Aging - Envejecimiento

TÍTULO / TITLE: - Age predicts Alzheimers in Down syndrome better than MRI, plasma, or cognition

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Jul;22(7):e71661. Free PMC article.

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AUTORES / AUTHORS: - James T Kennedy et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.

RESUMEN / SUMMARY: - Introduction: Alzheimers disease (AD) dementia in Down syndrome (DS) occurs at predictable ages. It is unclear whether age can differentiate across AD stages (amyloid positivity, tau positivity, mild cognitive impairment [MCI], dementia). Methods: Using data from the Alzheimers Biomarker Consortium-Down Syndrome, we analyzed how well age differentiated stage using receiver operating characteristic curves. We compared areas under the curve (AUC) for age to AUCs for imaging, biofluid, cognitive, motor, and behavioral variables. Results: Sample varied by stage and variable. Up to 148 variables and 461 participants were analyzed. Age effectively differentiated amyloid positivity, tau positivity, and MCI (AUCs > 0.85) but poorly discriminated MCI from dementia (0.588). No variable was better than age in distinguishing stages, except for MCI/dementia. Discussion: Our results show that age alone is effective at staging DS AD. Age is the most reliable correlate of amyloid, tau status, and cognitive impairment in DS and could screen for future clinical trials.

TÍTULO / TITLE: - Pearls and Pitfalls of 18F-FDG PET/CT for Suspected Alzheimers Disease in Patient with Down Syndrome

REVISTA / JOURNAL: - Mol Imaging Radionucl Ther. 2026 Jun 23. doi: 10.4274/mirt.galenos.2026.13285. Free article

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AUTORES / AUTHORS: - Elife Akgun, Satoshi Minoshima

INSTITUCIÓN / INSTITUTION: - University of Utah, Department of Radiology and Imaging Sciences, Salt Lake City, USA

RESUMEN / SUMMARY: - Dementia in individuals with Down syndrome (DS) is the leading cause of early-onset cognitive decline occurring before the age of 50. However, establishing an accurate diagnosis remains particularly challenging due to pre-existing intellectual disability, variability in baseline cognitive function, and the limited reliability of standard neuropsychological assessments. 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) plays a critical role in identifying underlying neurodegenerative processes and supporting the diagnosis. We present a case of DS with multiple known and unknown pathologies identified on brain 18F-FDG PET and a confirmed diagnosis of early-onset mild Alzheimers disease.

TÍTULO / TITLE: - Multiomics and proteomic insights into Alzheimers disease biology in Down syndrome

REVISTA / JOURNAL: - Expert Rev Neurother. 2026 Aug;26(8):745-763. doi: 10.1080/14737175.2026.2695187. Epub 2026 Jun 29.

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AUTORES / AUTHORS: - Mitchell Marta-Ariza, Thomas Wisniewski

INSTITUCIÓN / INSTITUTION: - Department of Neurology, NYU Grossman School of Medicine, New York, NY, US

RESUMEN / SUMMARY: - Introduction: Down syndrome (DS) confers a high risk of Alzheimers disease (AD) and is a genetically determined form of AD. As such, DS provides a uniquely informative biological context in which to investigate AD initiation and progression. Defining the molecular mechanisms that link trisomy 21 to neurodegeneration has broad implications for AD biology and neurotherapeutic development. Areas covered: This review summarizes findings from brain, cerebrospinal fluid, and blood-based proteomic studies, integrated with transcriptomic and multiomics analyses, to characterize molecular pathways underlying AD in DS. The literature was identified through iterative PubMed/MEDLINE searches and manual review of reference lists, considering studies available through June 2026 with no limitation to publication dates. Expert opinion: Brain, lesion-specific, cerebrospinal fluid, and blood-based proteomics, interpreted alongside transcriptomic and complementary omics data, position DSAD as a network-level disorder in which amyloid and tau pathology interact with immune, vascular, metabolic, synaptic, and proteostasis pathways. This integrated proteomic framework helps define shared and subtype-specific mechanisms across DSAD, sporadic AD, and autosomal dominant AD, while supporting biological staging, patient stratification, and therapeutic target discovery.

TÍTULO / TITLE: - CSF and plasma tau biomarkers in the Down syndrome-Alzheimers disease continuum

REVISTA / JOURNAL: - EBioMedicine. 2026 Jul 11:130:106370. doi: 10.1016/j.ebiom.2026.106370. Online ahead of print. Free

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AUTORES / AUTHORS: - Javier Arranz et al.

INSTITUCIÓN / INSTITUTION: - Sant Pau Memory Unit, IR SANT PAU, Hospital de la Santa Creu i Sant Pau, Barcelona, 08025, Spain; Institut de Neurociències, Universitat Autònoma de Barcelona, Barcelona, Spain.

RESUMEN / SUMMARY: - Background: Nearly all individuals with Down syndrome (DS) develop Alzheimers disease (AD) dementia, primarily due to overexpression of the APP gene. Although specific cerebrospinal fluid (CSF) and plasma tau biomarkers have been investigated in DS-AD, how different tau species change in the DS-AD continuum in comparison to sporadic AD remains uncertain. Methods: In this cross-sectional study, we analysed CSF and plasma tau biomarkers in 461 samples from the DABNI and SPIN cohorts, including individuals with DS, cognitively normal euploid participants, and patients with sporadic AD. Biomarker differences were assessed using linear regression with Tukey post hoc comparisons. LOESS modelling was applied to estimate the age at which tau biomarkers became abnormal. Findings: We analysed 461 participants from the DABNI and SPIN cohorts. Both CSF and plasma tau biomarkers increased during the asymptomatic stages of DS and in euploid controls, coinciding with Aβ positivity; across the DS clinical spectrum the largest increases were observed for CSF NTA-tau (fold-change [fc] = 6.46-6.94), CSF p-tau217 (fc = 6.43-6.74) and plasma p-tau217 (fc = 4.63-6.54) (linear regression adjusted for age, sex and APOE-ε4 with Tukey post-hoc tests; all p < 0.001). During the dementia stages, CSF tau biomarkers showed only modest further increases (no CSF biomarker differed between pDS and dDS; all p ≥ 0.268), whereas plasma tau biomarkers retained a broader dynamic range across symptomatic phases (pDS vs dDS: plasma p-tau217 p = 0.001, p-tau181 p = 0.002, p-tau231 p = 0.004). Plasma p-tau217 showed the highest diagnostic accuracy, with areas under the curve (AUC) of 0.91-0.97 for biological categorisations and numerically higher values than CSF in symptomatic stages (pDS vs dDS: plasma p-tau217 AUC = 0.69 [95% CI 0.58-0.80] vs CSF p-tau217 AUC = 0.53 [95% CI 0.41-0.65]; DeLong test p = 0.019). In LOESS analyses, tau biomarkers diverged from age-matched controls in the late

TÍTULO / TITLE: - The Role of Genetic Alterations in the Emergence of Alzheimers Disease in Down Syndrome: A Review

REVISTA / JOURNAL: - Eur J Neurosci. 2026 Jul;64(1):e70623. doi: 10.1111/ejn.70623. Free PMC article.

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AUTORES / AUTHORS: - Cecilia Villegas Robles et al

INSTITUCIÓN / INSTITUTION: - Research Center, Faculty of Medicine, Saltillo Campus, Autonomous University of Coahuila, Coahuila, Mexico.

RESUMEN / SUMMARY: - Down syndrome (DS), the most common chromosomal disorder, is associated with an accelerated aging process, increasing the risk of early-onset Alzheimers disease. This review examines genetic factors involved in the development of Alzheimers disease (AD) in people with DS. A systematic search in major databases was conducted, and articles from 2020 to 2025 that met the predefined inclusion criteria were included. The results showed that the prevalence of AD was above 60% in people with DS older than 65 years, the mean age at diagnosis was 53 years, and the mortality occurred around 59 years. The main genetic factor identified was the overexpression of the APP gene, along with other genes such as DYRK1A, RCAN1, SOD1, APOEε4, and genes involved in the immune response, as well as posttranscriptional dysregulation. Diagnosis remains a challenge due to the pre-existent intellectual disability and the atypical clinical presentation of the disease; however, the development of adapted neuropsychological tests, biomarkers, and neuroimaging techniques is expected to facilitate early diagnosis. The connection between both diseases is the result of multiple genetic factors that lead to early onset and accelerated progression of AD. It is essential to achieve timely diagnosis and provide early treatment to improve quality of life of both patients and their caregivers.

TÍTULO / TITLE: - Facial feature removal in magnetic resonance imaging scans of adults with Down syndrome: A de-facing methodological study

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Jul;22(7):e71614. doi: 10.1002/alz.71614. Free PMC article.

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AUTORES / AUTHORS: - Jason K Russell et al

INSTITUCIÓN / INSTITUTION: - Alzheimers Therapeutic Research Institute, Keck School of Medicine, University of Southern California, San Diego, California, USA.

RESUMEN / SUMMARY: - Introduction: Face identification algorithms have increased the risk of study participants being identified through different neuroimaging modalities. De-facing algorithms can de-identify neuroimages; however, none are validated in individuals with Down syndrome (DS) - a population at high risk of Alzheimers disease and the focus of numerous Alzheimers disease cohort studies. Methods: Overall, 37 adults with DS were parcellated using FreeSurfer before and after de-facing with mri_reface. A group of neurotypically developed individuals balanced on age, sex, and magnetic resonance imaging scanner manufacturer served as controls. Results: De-facing produced no effect on cortical thickness or volumetrics in adults with DS compared to controls or regional discrimination based on an area under the receiver operating characteristic curve analysis after correcting for multiple comparisons. Discussion: FreeSurfer-derived volumetric and cortical thickness measures changed minimally following de-facing with mri_reface in adults with DS and are unlikely to influence study outcomes. De-facing should be considered prior to data sharing in studies of adults with DS.

TÍTULO / TITLE: - BACH1/HO-1 axis dysregulation links Down syndrome to Alzheimer-like neurodegeneration

REVISTA / JOURNAL: - Neurochem Int. 2026 Jul 30:199:106232. doi: 10.1016/j.neuint.2026.106232.. Free article

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AUTORES / AUTHORS: - Fabio Di Domenico et al.

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences, A. Rossi Fanelli, Sapienza University of Rome, Rome, Italy.

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy of chromosome 21, is characterized by early-onset oxidative stress, impaired neuronal development, and an increased risk of Alzheimers disease (AD)-like neuropathology. Among chromosome 21 genes, the transcription factor BTB and CNC homology 1 (BACH1) has emerged as a critical regulator of redox homeostasis. Under physiological conditions, the balance between BACH1 and nuclear factor erythroid 2-related factor 2 (NRF2) warrants tight control of antioxidant defenses and heme metabolism. However, in DS, BACH1 overexpression disrupts this balance, impairing the induction of heme oxygenase-1 (HO-1) and of other cytoprotective pathways, thereby contributing to chronic oxidative stress, neuronal vulnerability, and pathological processes. The present review summarizes the molecular mechanisms that regulate the BACH1/HO-1 axis in the central nervous system. We recapitulate data from studies showing how dysregulation of this axis affects antioxidant defenses, iron homeostasis, ferroptosis, neuroinflammation, and mitochondrial function. We further provide evidence from the aging and AD literature, highlighting BACH1 as a convergent molecular node linking genetic and age-related neurodegeneration. Remarkably, we explore BACH1s contribution to the transition of DS to AD-like pathology. Finally, we evaluate emerging therapeutic strategies employing BACH1 inhibitors, NRF2 activators, and upstream signaling pathway modulators, and assess their applicability to the AD-like dementia context, concluding that targeting BACH1-dependent regulation of HO-1 represents a promising and unifying strategy to mitigate neurodegeneration in both DS and AD.

TÍTULO / TITLE: - Ageing in Adults With Mild and Moderate Intellectual Disabilities in Brazil: A Biopsychosocial Comparison of Individuals With and Without Down Syndrome

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jul 28. doi: 10.1111/jir.70151. Online ahead of print.

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AUTORES / AUTHORS: - Leila Regina de Castro et al.

INSTITUCIÓN / INSTITUTION: - Program in Aging Sciences, Universidade São Judas Tadeu (USJT), São Paulo, São Paulo, Brazil.

RESUMEN / SUMMARY: - Objectives: The objective of this study is to investigate functional, cognitive, physical and nutritional outcomes in adults with intellectual disabilities (IDs), comparing individuals with and without Down syndrome from Sao Paulo, Brazil, and to evaluate the associations of group, degree of disability, age and sex with these outcomes. Additionally, we hypothesized that individuals with Down syndrome would present greater vulnerability to cognitive and physical decline compared to those with ID of other aetiologies. Method: This cross-sectional observational study included 52 adults with ID divided into two groups: (1) 24 participants with Down syndrome (ID-DS) and (2) 28 participants with non-DS aetiologies (ID-nonDS). Assessments included sociodemographic and clinical data; functional independence measure (FIM); physical performance (handgrip strength, 30-s sit-to-stand test, gait speed test and MiniBESTest); nutritional status (Mini Nutritional Assessment [MNA]); cognitive function (Cambridge Cognitive Examination for Mental Disorders of the Elderly-Down Syndrome [CAMCOG-DS]); cognitive decline (Informant Questionnaire on Cognitive Decline in the Elderly [IQCODE]); and functional activities (Pfeffer Questionnaire [QPAF]). Data were obtained through self-report whenever possible, and proxy report (caregivers) when necessary, based on participants communication abilities. Results: Compared with the ID-nonDS group, the ID-DS group demonstrated significantly poorer learning (β = -2.56; p = 0.049) and remote memory performance (β = -1.18; p = 0.011), a nonsignificant trend towards lower handgrip strength (β = -4.68; p = 0.051) and more falls (β = -0.39; p = 0.050). Sex and degree of disability were associated with several outcomes, whereas age showed no significant effect. Conclusion: Adults in the ID-DS group exhibited cognitive and physical profiles suggestive of increased vulnerability to age-related functional impairment compared with adults w

TÍTULO / TITLE: - Adaptation of the Direct Assessment of Functional Status (DAFS): a new tool to assess functional changes in people with Down syndrome

REVISTA / JOURNAL: - Dement Neuropsychol. 2026 Jul 17:20:e20250415. doi: 10.1590/1980-5764-DN-2025-0415. eCollection 202

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AUTORES / AUTHORS: - Alexandra Martini de Oliveira et al.

INSTITUCIÓN / INSTITUTION: - Universidade de Sao Paulo, Faculdade de Medicina, Hospital das Clinicas, Departamento e Instituto de Psiquiatria, Laboratorio de Neurociencias, LIM27 - Sao Paulo SP, Brazil

RESUMEN / SUMMARY: - in English, Portuguese Functional decline in activities of daily living (ADL) is considered a marker of ageing and Alzheimers disease. However, there is a lack of performance-based instruments specifically designed to assess ADL in adults and older adults with Down syndrome. Objective: To describe the adaptation process of the Direct Assessment of Functional Status (DAFS) to assess the functional capacity of adults with Down syndrome. Methods: The Direct Assessment of Functional Status-Brazilian Version (DAFS-BR) was administered to 15 adults with Down syndrome (nine men and six women) who were divided into two diagnostic groups: stable cognition and suspected dementia or cognitive impairment. The process was conducted in two phases: phase one was characterized by an adaptation in the tasks. In phase two, (cultural and semantic) equivalences were verified, as well as structural aspects, including layout and instructions. This phase was essential for verifying the applicability and comprehensibility of newly adapted tasks. Results: The DAFS-BR was adapted for the time orientation, communication (telephone use), moneyhandling skills, and shopping skills domains, considering the target population. Conclusion: The adaptation process of the DAFS-BR for people with Down syndrome was made considering linguistic, psychological, and cultural idiosyncrasies in the target population, with the input of experts with relevant experience in each domain. After psychometric studies, the Direct Assessment of Functional Status-Down Syndrome (DAFS-DS) could be considered the first ecological instrument for evaluating functional status in adults with Down syndrome in Brazil to enhance both clinical practice and research.

TÍTULO / TITLE: - Down syndrome-associated trisomic chromosomal regions modify amyloid-β accumulation and cause early death in a mouse model of aspects of Alzheimers disease

REVISTA / JOURNAL: - J Alzheimers Dis. 2026 Jul 23:13872877261469121. doi: 10.1177/13872877261469121.

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AUTORES / AUTHORS: - Keiichi Ishihara et al.

INSTITUCIÓN / INSTITUTION: - Laboratory of Pathological Biochemistry, Division of Pathological Sciences, Kyoto Pharmaceutical University, Kyoto, Japan.

RESUMEN / SUMMARY: - BackgroundIndividuals with Down syndrome (DS), caused by triplication of chromosome 21 (Hsa21), face a significantly increased risk of early-onset Alzheimers disease (AD) and epilepsy. However, the specific impact of Hsa21 genes on these risks is not yet fully understood.ObjectiveTo investigate how triplication of mouse chromosome 16 (Mmu16), homologous to Hsa21, affects amyloid-β (Aβ) accumulation in the brain and epileptic seizures in AD-DS model mice.MethodsTo generate AD-DS model mice, we crossed a mouse model of aspects of AD-an APPswe/PS1dE9 mouse exhibiting brain Aβ accumulation and sudden death associated with epileptic seizures with DS mouse models carrying an extra copy of partial segments of mouse chromosome 16. We used three DS model lines: Ts1Cje, harboring a triplicated region encoding ∼70 Hsa21-homologous genes (Scaf4-Zbtb21); Ts1Rhr with triplication of the Cbr3-Fam3b region; and a newly developed Ts1Kei mouse carrying an extra copy of the Scaf4-Cbr1 region. Aβ accumulation was assessed by immunohistochemistry and enzyme-linked immunosorbent assay.ResultsCompared with APPswe/PS1dE9 mice, Aβ deposition and insoluble Aβ levels in the brain decreased in APPswe/PS1dE9-Ts1Cje mice but not in APPswe/PS1dE9-Ts1Rhr mice. The high mortality in APPswe/PS1dE9 mice was suppressed by either Ts1Cje- or Ts1Rhr-triplicated region. Despite a tendency for decreased Aβ accumulation in APPswe/PS1dE9-Ts1Kei mice, the study could not be finished due to the extremely high mortality.ConclusionsThe trisomic region in Ts1Kei mice is suggested to harbor genes associated with decreased Aβ accumulation. Alternatively, the trisomic region in Ts1Rhr mice contains genes suppressing sudden death in APPswe/PS1dE9 mice

TÍTULO / TITLE: - Distinct brain regions are affected by neurodevelopmental or pre-dementia changes in Down syndrome

REVISTA / JOURNAL: - Brain Commun. 2026 Jul 13;8(4):fcag269. doi: 10.1093/braincomms/fcag269. eCollection 2026. Free PM

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AUTORES / AUTHORS: - L�lia Jorge et al.

INSTITUCIÓN / INSTITUTION: - Institute for Nuclear Sciences Applied to Health, University of Coimbra, 3000-548 Coimbra, Portugal

RESUMEN / SUMMARY: - Down syndrome, a condition characterized by triplication of chromosome 21, leads to a complex interplay between neurodevelopmental and dementia-related changes similar to the ones observed in Alzheimers disease. Here we aimed to understand this interplay by using imaging biomarkers for different cognitive profiles in Down syndrome, and by analysing early developmental differences versus age-related changes. We analysed voxel-based morphometric measures of grey matter volume from high-resolution T1-weighted MRI in 23 adults with Down syndrome (18-59 years, five female) in preclinical/prodromal stages of Alzheimers disease and 24 age- and sex-matched controls, along with cognitive assessments. Neuroanatomical group differences were assessed using two-sample t-tests. Age-related effects on brain integrity, and cognitive function were examined through voxel-wise regression analyses and correlation tests, respectively. Finally, structural correlates of episodic memory were explored across the whole brain at the voxel level within the Down syndrome group. Results revealed a neuroanatomic phenotype with both regional increases and decreases in grey matter volume compared to controls (false discovery rate, q ≤ 0.05). Based on regression analysis, we found the following patterns in regions that were differentially reduced in Down syndrome: same intercept and different age-related slope (defining specific age-related differences), different intercept (implying initial neurodevelopmental differences) and same slope (signalling no age-related differences). A notable example of the first was the left hippocampus and its subfields, and of the second was the orbitofrontal cortex. Follow-up whole brain analyses confirmed age-related changes in Down syndrome (false discovery rate, q ≤ 0.05) in the parietal and temporal cortices, extending into hippocampus, as compared to controls, independent of neurodevelopmental (non-age related) features, and most pronounced in the ri

TÍTULO / TITLE: - Association of gait, balance, and fall risk with dementia in Down syndrome: a systematic review of the literature

REVISTA / JOURNAL: - Dement Neuropsychol. 2026 Jul 20:20:e20250442. doi: 10.1590/1980-5764-DN-2025-0442. Free PMC articl

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AUTORES / AUTHORS: - Aline de Souza Gon�alves Gomes da Concei�ao et al

INSTITUCIÓN / INSTITUTION: - Universidade de Sao Paulo, Faculdade de Medicina, Departamento e Instituto de Psiquiatria, Laboratório de Neurociência (LIM-27), Sao Paulo SP, Brazil.

RESUMEN / SUMMARY: - in English, Portuguese. Advances in healthcare have led to increased life expectancy among individuals with Down syndrome, resulting in a growing population of older adults within this group. As a result, the prevalence of cognitive decline and dementia has increased, largely due to the genetic predisposition of Down syndrome to early and significant accumulation of brain amyloid and intensified formation of neurofibrillary tangles. Early detection of functional alterations, particularly those related to gait and balance, may serve as a valuable clinical marker of emerging neurocognitive impairment. Objective: To synthesize the current evidence on the relationship between gait, cognitive decline, and dementia in adults and older adults with Down syndrome. Methods: A systematic search was conducted in the PubMed database in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. Original observational studies evaluating gait, balance, or fall risk in relation to cognitive decline or dementia in adults with Down syndrome were included. Methodological quality was assessed using the Joanna Briggs Institute critical appraisal tools. Results: Thirty-seven records were identified, of which five original studies met the inclusion criteria. Overall, the findings suggest an association between gait alterations, balance, and cognitive decline in individuals with Down syndrome. Commonly reported abnormalities included reduced gait speed, increased gait variability, inconsistency in gait parameters, and impaired balance. However, heterogeneity in study design, different measurement protocols, and small sample sizes limited the comparability and generalizability of the results. Conclusion: Gait assessment holds promise as a non-invasive, accessible approach for early identification of cognitive decline in individuals with Down syndrome. Future research should prioritize longitudinal designs, standardized assessment protoco

TÍTULO / TITLE: - Trisomy 21 cerebral organoids exhibit Alzheimers disease amyloid and apolipoprotein E co-pathologies

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Jul 7:2026.07.01.735908. doi: 10.64898/2026.07.01.735908. Free PMC articl

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AUTORES / AUTHORS: - Breanna R Dooling et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) develop Alzheimers disease (AD) brain pathology by age 40 due to triplication of the Amyloid Precursor Protein ( APP ) gene on chromosome 21. Inheritance of the apolipoprotein E-e4 ( APOE4) allele of the APOE gene on chromosome 19 remains the greatest genetic risk factor for AD in the typical population, yet its role in DS-associated AD (DS-AD) neuropathogenesis in people with DS is unclear. We generated human induced pluripotent stem cell (hiPSC)-derived neurons, astrocytes, and cerebral organoids (COs) using cells from people with DS and from euploid individuals. Aged DS COs were smaller than aged euploid COs and showed robust amyloid-β neuropathology that was positively correlated with the levels of apoE expression. We then captured extracellular vesicles (EVs) from the conditioned media of COs and observed a decrease in the levels of secreted AD-related proteins, including amyloid, contained within the EVs and in the media from which the EVs were isolated. We also identified distinct neuronal and astrocytic gene expression signatures in DS COs relative to euploid COs, including a set of genes known to interact with both APOE and APP at the gene and/or protein levels. Lastly, we determined that, despite differences in the expression levels of the specific genes involved, several common pathways were upregulated in T21 hiPSC-derived neurons, astrocytes, and COs, including apoptosis, the endolysosome, and structural stabilization pathways. Taken together, our findings provide novel insights into molecular mechanisms that may contribute to DS-AD and indicate that apoE plays an important role in the disease process.

TÍTULO / TITLE: - Blood biomarkers predict conversion from cognitively stable to mild cognitive impairment or Alzheimers disease in Down syndrome at 16-month follow-up in ABC-DS

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Jul;22(7):e71659. doi: 10.1002/alz.71659. Free PMC article.

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AUTORES / AUTHORS: - Fan Zhang et al

INSTITUCIÓN / INSTITUTION: - Institute for Translational Research, University of North Texas Health Science Center, Fort Worth, Texas, USA.

RESUMEN / SUMMARY: - Introduction: Individuals with Down syndrome (DS) face high risk for Alzheimers disease (AD), yet presymptomatic detection of cognitive decline is hindered by lifelong intellectual disability. Methods: Using data from the Alzheimers Biomarker Consortium-Down Syndrome (ABC-DS), blood samples from 246 participants were analyzed, yielding 404 longitudinal observations (45 Converters, 359 Stable) collected at 0, 16, and 32 months were analyzed. A Support Vector Machine was trained on 25 plasma biomarkers spanning neurodegeneration, inflammation, and vascular health, along with demographic factors (age, sex, ethnicity, karyotype, apolipoprotein E [APOE ε4]). Batch-effect correction and feature selection were applied, resulting in 13 key markers. Results: The refined model achieved 92.4% sensitivity, 59.9% specificity, and an area under the curve (AUC) of 77.9%, accurately identifying individuals at risk of cognitive decline up to 16 months before clinical progression. Discussion: This multi-domain, blood-based machine learning approach demonstrates that plasma biomarkers are valuable non-invasive tools for early detection and risk stratification of cognitive decline in DS.

TÍTULO / TITLE: - Blood biomarkers predict conversion from cognitively stable to mild cognitive impairment or Alzheimers disease in Down syndrome at 16-month follow-up in ABC-DS

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Jul;22(7):e71659. doi: 10.1002/alz.71659. Free PMC article.

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AUTORES / AUTHORS: - Fan Zhang et al

INSTITUCIÓN / INSTITUTION: - Institute for Translational Research, University of North Texas Health Science Center, Fort Worth, Texas, USA.

RESUMEN / SUMMARY: - Introduction: Individuals with Down syndrome (DS) face high risk for Alzheimers disease (AD), yet presymptomatic detection of cognitive decline is hindered by lifelong intellectual disability. Methods: Using data from the Alzheimers Biomarker Consortium-Down Syndrome (ABC-DS), blood samples from 246 participants were analyzed, yielding 404 longitudinal observations (45 Converters, 359 Stable) collected at 0, 16, and 32 months were analyzed. A Support Vector Machine was trained on 25 plasma biomarkers spanning neurodegeneration, inflammation, and vascular health, along with demographic factors (age, sex, ethnicity, karyotype, apolipoprotein E [APOE ε4]). Batch-effect correction and feature selection were applied, resulting in 13 key markers. Results: The refined model achieved 92.4% sensitivity, 59.9% specificity, and an area under the curve (AUC) of 77.9%, accurately identifying individuals at risk of cognitive decline up to 16 months before clinical progression. Discussion: This multi-domain, blood-based machine learning approach demonstrates that plasma biomarkers are valuable non-invasive tools for early detection and risk stratification of cognitive decline in DS.

TÍTULO / TITLE: - Necroptosis in Down Syndrome

REVISTA / JOURNAL: - Cell Death Dis. 2026 Jun 23;17(1):598. doi: 10.1038/s41419-026-09035-y. Free PMC article.

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AUTORES / AUTHORS: - Hymavathi Reddy Vari, Domenico Pratico

INSTITUCIÓN / INSTITUTION: - Department of Neural Sciences, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, 19140, USA.

RESUMEN / SUMMARY: - Necroptosis is a form of controlled cell death implicated in neuronal loss observed in neurodegenerative diseases such as Alzheimers disease. Down syndrome (DS) is also characterized by the presence of neuronal cell loss, but the underlying mechanisms remain unclear. Brain tissue from a mouse model of DS, Ts65dn mice, and subjects with DS were assessed for levels of necroptosis markers including receptor-interactive protein kinase 1 and 3, necroptosis executor mixed lineage kinase domain-like protein and long non-coding RNA MEG. While no differences were observed between the Ts65dn and wild type mice at a young age, levels of these markers were significantly elevated in the brains of old DS mice when compared with matched wild type controls. Assessment of post-mortem brains from DS subjects also revealed a significant increase in these necroptosis markers. Our study is the first report showing the presence of necroptosis markers in the brains of a mouse model of DS and in DS subjects. These findings support the novel idea that this form of cell death should be also considered for developing novel therapeutic strategies for DS.

TÍTULO / TITLE: - Beyond diagnosis: can fluid tau biomarkers stage Alzheimers disease? Lessons from down syndrome

REVISTA / JOURNAL: - EBioMedicine. 2026 Jul 14:130:106393. doi: 10.1016/j.ebiom.2026.106393. Online ahead of print. Free

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AUTORES / AUTHORS: - Lucilla Parnetti, Lorenzo Gaetani

INSTITUCIÓN / INSTITUTION: - Section of Neurology, Lab of Clinical Neurochemistry, Department of Medicine and Surgery, University of Perugia, Italy

RESUMEN / SUMMARY: -

Cardiology - Cardiología

TÍTULO / TITLE: - First- and Second-Trimester Cardiovascular Anomalies in Trisomy 21 Fetuses: Anatomy, Embryology, Genetics and Imaging

REVISTA / JOURNAL: - J Pers Med. 2026 Jun 30;16(7):358. doi: 10.3390/jpm16070358. Free PMC article.

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AUTORES / AUTHORS: - Mariangela Pati et al

INSTITUCIÓN / INSTITUTION: - Unit of Obstetrics and Gynecologic Oncology, Azienda USL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

RESUMEN / SUMMARY: - Background: Trisomy 21 (T21) is strongly associated with congenital heart disease, particularly atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD) and selected conotruncal and arch anomalies. First- and second-trimester ultrasound, Doppler and fetal cardiac MRI enable increasingly early and detailed characterization of these lesions, while advances in molecular cardiogenesis have linked specific phenotypes to dosage-sensitive genes on chromosome 21. Methods: This narrative review synthesizes contemporary evidence on structural and functional cardiovascular anomalies in T21 fetuses in the first and second trimester, integrating fetal echocardiography, Doppler assessment and fetal cardiac MRI with embryologic and molecular insights, and summarizing trimester-specific detectability and pathophysiologic links to candidate genes in the Down syndrome-critical region. Approximately one quarter to one third of T21 fetuses have major congenital heart disease on high-quality prenatal echocardiography, with AVSD representing about half of all lesions and VSD, tetralogy of Fallot (TOF), arch anomalies, venous return abnormalities and functional markers (increased nuchal translucency, tricuspid regurgitation, ductus venosus abnormalities) comprising the remainder. Results: First-trimester detection relies on functional markers and early four-chamber and outflow-tract views, whereas second-trimester studies refine anatomic definition and hemodynamics, with MRI reserved for complex cases. Overexpression of genes such as DSCAM, COL6A1/COL6A2, DYRK1A and RCAN1 perturbs endocardial cushion, conotruncal and vascular development. Conclusions: Early, protocol-driven cardiac imaging in T21 supports timely diagnosis, risk stratification and multidisciplinary counselling, and links fetal imaging phenotypes with chromosome 21 gene dosage to advance personalized management and future genotype-phenotype research.

TÍTULO / TITLE: - Ruptured sinus of Valsalva aneurysm mimicking infective endocarditis in a patient with Down syndrome: case report

REVISTA / JOURNAL: - Eur Heart J Case Rep. 2026 Jul 9;10(7):ytag495. eCollection 2026 Jul. Free PMC article.

Enlace a la Editora de la Revista https://academic.oup.com/ehjcr

AUTORES / AUTHORS: - Jan Harpula et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiology and Structural Heart Diseases, Medical University of Silesia, Ziolowa 45 Street, Katowice 40-514, Poland

RESUMEN / SUMMARY: - Background: Sinus of Valsalva aneurysm is a rare structural anomaly that could be congenital or acquired, usually silent until the moment of rupture. Its diagnosis can be challenging as the turbulent jet flow may mimic vegetations or abscesses associated with infective endocarditis (IE). Case summary: A 31-year-old woman with Down syndrome presented with signs of severe right heart failure and a history of recurrent fevers. Initial echocardiography revealed a massive left-to-right shunt and an echogenic structure in the aortic root, raising suspicion of a paravalvular abscess-patient was treated initially with intravenous antibiotics. However, due to negative blood cultures and imaging findings (coronary computed tomography and cardiac magnetic resonance), lesion was reclassified as a ruptured non-coronary sinus of Valsalva aneurysm (RSOV) fistulizing into the right atrium (Qp:Qs 3.5). Due to the ambiguity of the diagnosis and initial clinical stability, elective surgery was planned after antibiotics course was completed and heart failure treatment optimalization. One month later, the patient presented with acute heart failure event with distribution shock. Emergency surgery was performed. Intraoperative findings confirmed RSOV without signs of infection. The aneurysm was excised with fistula closure, and the aortic valve replaced. The patient made a full recovery. Discussion: This case highlights the diagnostic overlap between RSOV and IE. It underscores the critical role of multimodality imaging in excluding infection and defining anatomy. Furthermore, it demonstrates that in cases of massive left-to-right shunting, delaying surgery carries a high risk of rapid haemodynamic collapse.

TÍTULO / TITLE: - Impact of weight loss on cardiovascular function in adolescents and young adults with overweight/ obesity and intellectual and developmental disabilities

REVISTA / JOURNAL: - Disabil Health J. 2026 Jul 16:102126. doi: 10.1016/j.dhjo.2026.102126. Online ahead of print.

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AUTORES / AUTHORS: - Geetha Haligheri et al.

INSTITUCIÓN / INSTITUTION: - Children s Mercy Hospital, Department of Pediatric Cardiology, 2401 Gillham Road, Kansas City, MO, 64108, United States of America; University of Missouri- Kansas City, Department of Pediatrics, 5000 Holmes St, Kansas City, MO, 64110, Unite

RESUMEN / SUMMARY: - : Background: Overweight and obesity affect over 60% of adolescents and young adults with intellectual and developmental disabilities (IDD) and are associated with impairments in cardiovascular (CV) function. Objective: This study aims to evaluate the impact of weight loss on cardiac strain and other measures of CV function in adolescents and young adults with IDD and obesity, addressing a current literature gap. Methods: Adolescents and young adults with IDD and obesity entering a weight loss parent trial (NCT02561754) were voluntarily co-enrolled in this observational ancillary study (49 participants representing 45% of those enrolled in the parent trial). The ancillary study CV testing was performed at baseline and 6 months including echocardiograms optimized for strain, pulse wave velocity, and treadmill stress testing. Changes in CV parameters were compared to changes in body mass index (BMI). Statistical analyses included medians (interquartile range), Spearman correlation with bootstrapping, and regression modeling (adjusting for IDD diagnosis), p < 0.05 significant. Results: The ancillary study cohort consisted of 21 females (42%), 23 participants with Down syndrome (47%), and 26 with autism (53%); the mean age was 16.5 ± 2.4 years (range 13-21 years). Average weight loss through the parent trial intervention was 6.5% (BMI decreased 6.0%) over 6 months, with 9/49 (18%) losing >10% body weight. The decrease in BMI correlated with increases in left ventricular (LV) global longitudinal strain (p < 0.01), tricuspid annular plane systolic excursion (TAPSE) (p = 0.02), LV lateral E/e (p = 0.007), LV global circumferential strain (p = 0.01), and LV end-diastolic strain rate (p = 0.005). Modest changes in LV global longitudinal strain (p < 0.001) and TAPSE (p = 0.003) remained significant on multivariant modeling. Conclusions: Weight loss in adolescents and young adults with IDD and overweight/obesity relates to improvements in certain parameters of ventricular fu

TÍTULO / TITLE: - Acute Severe Left Atrioventricular Valve Regurgitation Secondary to Spontaneous Rupture of Chordae Tendinae in a Patient with Down Syndrome

REVISTA / JOURNAL: - World J Pediatr Congenit Heart Surg. 2026 Jun 30:21501351261453065. doi: 10.1177/21501351261453065.

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AUTORES / AUTHORS: - Rukmini Komarlu et al.

INSTITUCIÓN / INSTITUTION: - Children s Institute Department of Heart, Vascular & Thoracic, Division of Cardiology & Cardiovascular Medicine, Cleveland Clinic Children s Hospital, Cleveland, OH, USA.

RESUMEN / SUMMARY: - We present a unique case of spontaneous chordal rupture in a young infant with Down syndrome and unrepaired transitional atrioventricular septal defect. This resulted in abrupt onset of severe left atrioventricular valve regurgitation, cardiogenic shock, and multiorgan dysfunction. Our case highlights the need for a high index of suspicion for a ruptured chord in a young infant presenting with acute onset of pulmonary edema.

Dental - Dental

TÍTULO / TITLE: - Dental Management of a Child With Moyamoya Disease and Down Syndrome: A Case Report and Review

REVISTA / JOURNAL: - Spec Care Dentist. 2026 Jul-Aug;46(4):e70221. doi: 10.1111/scd.70221. Free PMC article.

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AUTORES / AUTHORS: - Pranitha Vallala et al

INSTITUCIÓN / INSTITUTION: - Department of Dentistry, All India Institute of Medical Sciences, Bibinagar, Telangana, India.

RESUMEN / SUMMARY: - Moyamoya disease (MMD) is a rare cerebrovascular occlusive disorder involving Internal carotid arteries, which may present in association with Down syndrome (Trisomy 21). These patients are at increased risk of intraoperative complications such as hyperventilation, transient ischemia, stroke and cerebral haemorrhage. This case report describes the dental management of an 8-year-old female patient with MMD and associated Down syndrome (DS) receiving antiplatelet therapy, along with a comprehensive literature review. The patient presented with dental pain in the upper right quadrant and multiple carious teeth. The child was cognitively impaired but potentially cooperative, and behavior management was achieved through desensitization and audiovisual distraction techniques. Dental treatment was performed in staged, short appointments and included selective caries excavation and restoration of teeth (#11, #21, #53, #55, #63, #65, #83, #85) using glass ionomer cement. Extraction of decayed teeth (#54, #64, #75 root stumps) was carried out under local anaesthesia (LA) without discontinuation of aspirin therapy. Patient was monitored intraoperatively for SpO2 and postoperatively for extraction-site bleeding, which was effectively controlled using cold application and local pressure. Acetaminophen was prescribed for analgesia. Over a one-year follow-up period, the patient demonstrated significant improvement in oral health, pain reduction, and overall quality of life. This case highlights that the choice of anaesthesia and management protocol should be individualized based on the patient s level of cooperation, extent of dental treatment needs, and associated comorbidities, including bleeding risk and airway considerations.

TÍTULO / TITLE: - Efficacy of a Microencapsulated Sugar-Free Probiotic Oral Rinse on Gingival Health and Salivary Matrix Metalloproteinases 8 and 9 in Children With Down Syndrome: A Pilot Randomized Clinical Trial

REVISTA / JOURNAL: - Spec Care Dentist. 2026 Jul-Aug;46(4):e70213. doi: 10.1111/scd.70213. Free PMC article

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AUTORES / AUTHORS: - Swagata Saha et al.

INSTITUCIÓN / INSTITUTION: - Department of Pedodontics and Preventive Dentistry, Dr. D. Y. Patil Dental College & Hospital, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India.

RESUMEN / SUMMARY: - Background: Children with Down Syndrome (DS) are at heightened risk for oral diseases due to their distinct physiological and immune characteristics. Matrix metalloproteinases (MMPs), particularly MMP-8 and MMP-9, are key mediators of periodontal tissue breakdown. Probiotics may provide a novel, well-tolerated alternative to conventional antiseptics by modulating these biomarkers. Methods: This single-center, parallel-arm, randomized, single-blind pilot trial compared a sugar-free microencapsulated probiotic oral rinse against a 0.2% chlorhexidine digluconate rinse in children with DS. A total of 118 participants aged 6-14 years were enrolled; following attrition after oral rehabilitation, 40 children (20 per group) were allocated to intervention, and 15 participants per group completed all assessments. After individualized oral rehabilitation and oral health education, participants were randomized (1:1). Group 1 received probiotic rinse and Group 2 chlorhexidine rinse, both administered twice daily for two weeks. Primary outcomes were salivary MMP-8 and MMP-9 levels (enzyme-linked immunosorbent assay). Secondary outcomes were plaque index (PI), gingival index (GI), oral hygiene index-simplified (OHI-S), and bleeding on probing (BOP). Outcomes were assessed at baseline prior to oral rehabilitation (T0), two weeks after completion of oral rehabilitation (T1), two weeks following completion of the rinse protocol (T2), and six months post-rinse (washout period, T3) by blinded examiners. Results: All 30 randomized participants completed the trial (15 per group). Both groups showed significant within-group reductions in MMP-8, MMP-9, PI, GI, OHI-S, and BOP at follow-up (p < 0.05). Between-group comparisons showed no significant differences in MMP levels, PI, GI or OHI-S at any interval. At six months, the probiotic group demonstrated a greater reduction in BOP compared with chlorhexidine (median difference -6.0; 95% CI [-9.0, -3.0]; p = 0.001). Given the two-week duratio

TÍTULO / TITLE: - Effects of Palatal Plate Treatment Duration on Orofacial Functions of Children With Trisomy 21: Mapping the Evidence Through a Scoping Review

REVISTA / JOURNAL: - Spec Care Dentist. 2026 Jul-Aug;46(4):e70215. doi: 10.1111/scd.70215. Free PMC article.

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AUTORES / AUTHORS: - Valder Ferreira da Silva Filho et al

INSTITUCIÓN / INSTITUTION: - Faculty of Dentistry, Faculdade Sete Lagoas (FACSETE), Minas Gerais, Brazil.

RESUMEN / SUMMARY: - Aim: The aim of the present study was to synthesize the available evidence on the short- and long-term effects of Palatal Memory Plate in children with Trisomy 21. Methods: A scoping review was conducted, and followed the Preferred Reporting Items for Systematic Review and Meta-Analysis with extension for scoping reviews. The review was registered in Open Science Framework, under registration number 10.17605/OSF.IO/ZDNCQ. Two independent reviewers conducted searches in PubMed, Embase, Web of Science, Scopus, Cochrane Library, and Google Scholar for gray literature, in April, 2026. The critical evaluation of the included studies was done with Oxford-CEBM Levels of Evidence for intervention questions. Results: Of the 191 potentially eligible articles for selection, 19 were included. In treatments lasting 4 months to 1 year, improvements were observed in lip sealing, tongue posture, and early speech, as well as an increase in orofacial muscle tone. From 3 to 4 years, results remained stable. Conclusion: The evidence suggests potential improvements in orofacial functions at different follow-up periods, with some studies reporting maintenance or progression over time. However, results should be interpreted with caution due to the lack of higher evidence level.

TÍTULO / TITLE: - Dysregulated calcium signaling underlies hyposalivation and microbial dysbiosis in Down syndrome

REVISTA / JOURNAL: - Cell Rep. 2026 Jul 28;45(7):117619. Epub 2026 Jul 1. Free article

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/42258354/

AUTORES / AUTHORS: - Ga-Yeon Son et al.

INSTITUCIÓN / INSTITUTION: - Department Molecular Pathobiology, NYU Dentistry, New York, NY, USA.

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) produce less saliva for unknown reasons resulting in chronic periodontal disease with systemic detrimental effects. Using the (Dp(16)1Yey) mouse model of DS we define the molecular mechanisms of hyposalivation and potential links to periodontal disease. We show that Dp(16)1Yey mice produce less saliva and have a higher immune burden in the salivary glands. We demonstrate that store operated calcium entry (SOCE), required for saliva secretion, is deficient in the salivary glands of Dp(16)1Yey mice. SOCE is also reduced in iPSCs from an individual with DS. We show that the oral and gut microbiomes of Dp(16)1Yey mice have abundant succinate-associated microbes and high succinate levels in the serum. We highlight associations between altered Ca2+ handling and hyposalivation, dysbiosis, and periodontal disease in DS. The administration of pilocarpine in Dp(16)1Yey mice increased salivation, suggesting that cholinergic agonists might be useful to improve the oral health of individual with DS.

TÍTULO / TITLE: - Efficacy of Customized Toothbrush Handles in Individuals With Down Syndrome and Autism Spectrum Disorder: A Non-Randomized Clinical Trial

REVISTA / JOURNAL: - Spec Care Dentist. 2026 Jul-Aug;46(4):e70203. doi: 10.1111/scd.70203.

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AUTORES / AUTHORS: - Mirlena Mansur Dionizio da Silva et al

INSTITUCIÓN / INSTITUTION: - Oral Diagnosis Department, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, Sao Paulo, Brazil.

RESUMEN / SUMMARY: - Aims: Individuals with Down syndrome (DS) and autism spectrum disorder (ASD) often face challenges in maintaining adequate oral hygiene due to motor, sensory, and behavioral limitations. Toothbrushes with customized handles have been proposed as assistive devices, but clinical evidence of their effectiveness remains limited. This study aimed to evaluate the effectiveness of customized-handle toothbrushes compared with conventional toothbrushes in reducing dental plaque in these populations. Methods and results: A non-randomized clinical trial was conducted with 28 individuals diagnosed with DS or ASD. Participants used either customized-handle or conventional toothbrushes and were followed for three weeks. Dental plaque was assessed using the modified Quigley and Hein Plaque Index at baseline, immediately after supervised brushing, and after one and three weeks. Both toothbrush types led to plaque reduction over time in both groups; however, no statistically significant differences were observed between toothbrush types at any evaluation point. Conclusion: Customized-handle toothbrushes showed similar effectiveness compared to conventional toothbrushes in reducing dental plaque in individuals with DS and ASD and may serve as a supportive tool for oral hygiene care, particularly when combined with supervision and caregiver assistance.

Dermatology - Dermatología

TÍTULO / TITLE: - Solitary cutaneous mastocytoma in an infant with Down syndrome

REVISTA / JOURNAL: - JAAD Case Rep. 2026 Jun 20:75:1-4. doi: 10.1016/j.jdcr.2026.06.032. eCollection 2026 Sep. Free arti

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AUTORES / AUTHORS: - Fatmah Altaweel et al.

INSTITUCIÓN / INSTITUTION: - Dermatology Department, Farwaniya Hospital, Ministry of Health, Kuwait City, Kuwait.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Crusted Scabies Mimicking Psoriasis in a Patient With Down Syndrome: A Case Report

REVISTA / JOURNAL: - Cureus. 2026 Jun 18;18(6):e111106. doi: 10.7759/cureus.111106.eCollection 2026 Jun. Free PMC articl

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AUTORES / AUTHORS: - Lamis El Yaman et al.

INSTITUCIÓN / INSTITUTION: - Dermatology, Mohammed VI University Hospital of Oujda, Oujda, MAR.

RESUMEN / SUMMARY: - Crusted scabies, also known as Norwegian scabies, is a rare but highly contagious variant of scabies characterized by extensive hyperkeratotic plaques and a heavy mite burden. It predominantly affects immunocompromised individuals or those with neurological or cognitive impairments, including individuals with Down syndrome. We report the case of a 29-year-old man with Down syndrome who developed a progressive, treatment-resistant erythematosquamous eruption initially misdiagnosed as psoriasis. Topical corticosteroid therapy led to clinical worsening, with widespread hyperkeratotic and crusted plaques. Further evaluation revealed the presence of Sarcoptes scabiei mites and eggs on microscopic examination of skin scrapings. The patient was successfully treated with a combination of oral ivermectin, topical benzyl benzoate, and keratolytic agents, alongside environmental decontamination and the treatment of close contacts. This case underscores the diagnostic challenge of crusted scabies in cognitively impaired patients and highlights the risk of misdiagnosis, particularly as psoriasis, which may delay appropriate treatment and increase the risk of outbreaks. Early recognition, microscopic confirmation, and aggressive multidrug therapy are essential for effective management.

TÍTULO / TITLE: - A Real-Life, Multicenter, Retrospective Study on Epidemiological and Clinical Features of Patients With Hidradenitis Suppurativa and Concomitant Down Syndrome

REVISTA / JOURNAL: - Int J Dermatol. 2026 Jul 16. doi: 10.1111/ijd.70584. Online ahead of print.

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AUTORES / AUTHORS: - Chiara Moltrasio et al.

INSTITUCIÓN / INSTITUTION: - Dermatology Unit, Fondazione IRCCS ca Granda Ospedale Maggiore Policlinico, Milan, Italy.

RESUMEN / SUMMARY: - Background: Hidradenitis suppurativa (HS) is an autoinflammatory skin disorder, often associated with Down syndrome (DS), with a prevalence ranging from 2.1% to 3.02%. Objectives: Our aim was to describe the epidemiological and clinical features of patients with HS and concomitant DS in a relevant Italian cohort. Methods: We conducted a real-life, multicentre, retrospective, and descriptive analysis of 70 HS-DS patients with 2-year follow-up. Results: Seventy Caucasian adult patients (31 males and 39 females) affected by HS and DS were enrolled, with a mean age at baseline of 23.9 years. Mean body mass index (BMI) was 27.5 with obesity found in 20.9% of patients. Mean age at HS onset was 15.2, while at diagnosis was 18.6 with a diagnostic delay of 3.4 years. The groin was the most frequently involved site at HS onset and diagnosis, while the most common HS phenotype was the follicular one. At HS diagnosis, Hurley stage II was the most frequent with a median value of the International Hidradenitis Suppurativa Severity Score (IHS4) of 6 (moderate HS) while the most common therapy prescribed was systemic antibiotics, followed by topical treatments. Over follow-up, treatment patterns changed and IHS4, Dermatology Life Quality Index (DLQI) and pain numeric rating scale (NRS pain) scores decreased. Conclusions: Our patient cohort is characterized by female predominance, high BMI, early HS onset, predominance of follicular phenotype, and moderate disease severity. Given the recognized association between these two conditions, we recommend regular screening by pediatricians and dermatologists for early detection and management of HS in DS patients. Future comparative studies are needed to clarify which features may be specifically associated with HS and concomitant DS.

TÍTULO / TITLE: - Nail Disorders in Children With Down Syndrome: A Multicenter Study

REVISTA / JOURNAL: - Pediatr Dermatol. 2026 Jul-Aug;43(4):829-834. Epub 2026 Mar 10. Free PMC article

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/41467319/

AUTORES / AUTHORS: - Sezgi Sarikaya Solak et al.

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Faculty of Medicine, Trakya University, Edirne, Tunrkiye

RESUMEN / SUMMARY: - Background and objectives: Although skin diseases in Down syndrome (DS) have been investigated, nail disorders remain understudied. This study aims to evaluate the prevalence and clinical characteristics of nail disorders in children with DS. Methods: This is a multicenter, case-control study in which 221 children with DS and 160 healthy children were recruited from 9 tertiary dermatology centers. A detailed nail and skin examination was performed by an experienced dermatologist in each center. Nail disorders were recorded. Results: Of the 221 children with DS, 57% (126/221) had at least one nail disorder. The prevalence of nail disorders in the DS group was significantly higher than in the control group (p ≤ 0.001). Brittle nail was the most common nail disorder (19.0%, 42/221) in children with DS, followed by Beau s lines and onychomadesis (16.3%, 36/221), longitudinal ridging (12.7%, 28/221), and self-induced nail disorders (onychophagia, habitual tic deformity, and onychotillomania) (10.0%, 22/221). The risk of any nail disorder was 3 times higher, brittle nails 4.3 times, Beau s lines and onychomadesis 5.6 times, self-induced nail disorders 1.6 times, and longitudinal ridging 3.4 times higher in DS compared to the control group (p < 0.05). Conclusions: Nail disorders, including brittle nails, Beau s lines, and onychomadesis, self-induced nail disorders, and longitudinal ridging, are common in DS. The identification of nail disorders in DS may aid in recognizing underlying systemic or psychiatric conditions, thereby supporting more comprehensive care for children with DS.

TÍTULO / TITLE: - Increased Risk of Deep Vein Thrombosis and Pulmonary Embolism in Hidradenitis Suppurativa Patients With Down Syndrome: A Retrospective Cohort Study

REVISTA / JOURNAL: - Int J Dermatol. 2026 Jun 29. doi: 10.1111/ijd.70555. Online ahead of print.

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AUTORES / AUTHORS: - Claire S Chung et al.

INSTITUCIÓN / INSTITUTION: - Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

RESUMEN / SUMMARY: -

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE: - Tympanometric Measurement of Ear Canal Volume in Children With Trisomy 21: Rate of Growth and Predictive Value for Success of Ventilation Tube Insertion

REVISTA / JOURNAL: - Clin Otolaryngol. 2026 Jul 30. doi: 10.1111/coa.70152. Online ahead of print.

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AUTORES / AUTHORS: - Sam Plyming, Haytham Kubba

INSTITUCIÓN / INSTITUTION: - Department of Paediatric Otolaryngology, Royal Hospital for Children, Glasgow, UK.

RESUMEN / SUMMARY: - Introduction: Children with trisomy 21 have narrow ear canals which can make ventilation tube insertion difficult or impossible. This study aimed to use ear canal volume, as routinely reported on tympanometry, to estimate the annual growth rate of the ear canal and to predict the success rate of ventilation tube insertion in children with trisomy 21. Methods: We conducted a retrospective study on 50 children with trisomy 21 who each had tympanometric ear canal volume measurements available on 3 occasions to calculate the growth rate of the ear canal. We also conducted a separate retrospective study of 83 ventilation tube insertion attempts in 45 children with trisomy 21 to see if the tympanometric ear canal volume was predictive of success or failure. Results: Ear canal volume grows at 0.04-0.05 mL/year on average in children with trisomy 21, but at any given age the variation between children is many times larger than this. Of 83 ventilation tube insertion attempts, 66 were successful (92%) and 7 failed (8%). All failures occurred in children with ear canal volume 0.51 mL or less. Age was not predictive of success of ventilation tube insertion. Conclusion: Smaller ear canal volumes are predictive of failure of ventilation tube insertion. Ear canal volumes do grow over time in children with trisomy 21 but at a slow rate. Tympanometry can provide information on ear canal volume, which is useful for discussions about how best to manage otitis media with effusion in children with trisomy 21.

TÍTULO / TITLE: - Comparative outcomes of intracapsular and total tonsillectomy for obstructive sleep apnea in children with Trisomy 21

REVISTA / JOURNAL: - Int J Pediatr Otorhinolaryngol. 2026 Jul 17:208:112950. doi: 10.1016/j.ijporl.2026.112950. Free art

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AUTORES / AUTHORS: - Beverly J Fu et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head and Neck Surgery, Stanford Healthcare, USA.

RESUMEN / SUMMARY: - Introduction: Children with Trisomy 21 (T21) are at high risk for obstructive sleep apnea (OSA) and perioperative complications. Intracapsular tonsillectomy (IT) is associated with reduced postoperative morbidity, but its long-term efficacy compared to total tonsillectomy (TT) remains debated. Objectives: To compare the safety and efficacy of IT versus TT for OSA in children with T21. Methods: A retrospective cohort study was conducted of patients aged 2-18 years with T21 who underwent tonsillectomies with/without adenoidectomy between 2005 and 2025 at a tertiary center. Patients undergoing concurrent airway procedures were excluded. Outcomes included postoperative complications, polysomnography (PSG) changes, symptom recurrence, and OSA-symptom-free survival. Results: Among 176 patients (mean age 5.9 years; 54.0% female), 109 underwent TT and 67 IT. Preoperative OSA severity and tonsil size did not differ. Postoperative return visits were significantly higher after TT (17.4% vs 1.5%, p = 0.001) for poor oral intake (12.8% vs 1.5%, p = 0.010) and bleeding (6.4% vs 0.0%, p = 0.045). Improvements in AHI (53.4% TT vs 53.1% IT, p = 1.00) and OSA resolution (19.0% vs 21.9%, p = 0.787) were comparable. Unadjusted OSA recurrence was higher after TT, but this difference was not significant after adjusting for surgery year and follow-up duration (HR 1.10, 95% CI 0.54-2.25, p = 0.785). No patient undergoing IT required completion tonsillectomy despite tonsillar regrowth being observed in 5 patients (7.5%), all of whom were managed conservatively. Conclusion: Intracapsular tonsillectomy provides equivalent OSA control with lower perioperative morbidity compared with total tonsillectomy, supporting IT as a safe and effective first-line surgical approach for children with T21.

TÍTULO / TITLE: - Altered Tonsillar Microbiome in Children with Down Syndrome and Obstructive Sleep

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Jun 1:2026.05.29.728812. doi: 10.64898/2026.05.29.728812. Free PMC article

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AUTORES / AUTHORS: - E Woods et al.

INSTITUCIÓN / INSTITUTION: - 1Department of Pediatric Hematology, Oncology and Bone Marrow Transplant, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, 80045, USA.

RESUMEN / SUMMARY: - Background and objectives: Children with Down syndrome (DS) have a high prevalence of obstructive sleep apnea (OSA) due to anatomic, neuromuscular, immunological and metabolic factors, yet the contribution of the tonsillar microbiome to airway obstruction in this population remains unexplored. We hypothesized that DS-associated OSA would be associated with a distinct tonsillar microbiome compared to non-DS OSA. Methods: Tonsillar tissue from 22 DS and 18 NDS participants were analyzed by 16S rRNA sequencing. Alpha and beta diversity were assessed using Faith s phylogenetic diversity and UniFrac distances, respectively, and significantly different taxa were identified with ANCOM-BC and Mann-Whitney testing. Results: Although overall microbial richness and community structure were similar between groups, overweight DS participants demonstrated increased phylogenetic diversity compared to normal-weight DS peers. Taxonomic profiling of the entire patient cohort revealed that in DS tonsils there were selective alterations in key genera with selective depletion of Haemophilus and enrichment of Staphylococcus, Rothia, and Lactobacillales. Haemophilus abundance correlated positively with tonsil weight in both cohorts. Conclusions: These findings suggest that while global diversity is preserved, specific microbial shifts distinguish the DS tonsillar niche, potentially reflecting altered immune and metabolic environments associated with trisomy 21. Understanding these microbial differences may reveal mechanisms underlying the higher incidence and persistence of OSA in DS and inform targeted therapeutic strategies.

TÍTULO / TITLE: - elopharyngeal Insufficiency Secondary to Endoscopic Endonasal Odontoidectomy and Craniocervical Fusion in a Pediatric Patient With Down Syndrome: A Case Report

REVISTA / JOURNAL: - Ear Nose Throat J. 2026 Jul 17:1455613261471279. doi: 10.1177/01455613261471279. Free article

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AUTORES / AUTHORS: - Syeda Maria Ahmad Zaidi et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - IntroductionPost-operative morbidity is common (36%) in patients with Down Syndrome (DS) requiring surgical spine intervention. Underlying anatomical factors such as midface hypoplasia, shorter palates and hypotonia are also contributory. However, there are no reported cases on velopharyngeal insufficiency (VPI) following trans-nasal endoscopic odontoid resection and reconstruction.Case PresentationA 6-year old girl with Down Syndrome (DS) underwent an occipitocervical fusion for atlantoaxial instability and cervical stenosis. Post-operative complications and hardware failure necessitated a revision occipitocervical fusion with extension to the C6 vertebral level. Subsequently, the child presented with symptoms consistent with velopharyngeal insufficiency (VPI), including hypernasal speech and a decline in conversation skills. Speech examination confirmed weak oral airflow and poor articulation of phrases. A video nasopharyngeal endoscopy (VNE) demonstrated coronal pattern of movement was seen with lateral wall motion, and incomplete approximation of the posterior pharyngeal wall, consistent with the diagnosis. The child was managed consistently with dedicated speech therapy. Despite an initial decline of 50-60% in spoken skills, consistent subjective and objective spontaneous improvement was seen with speech rehabilitation.ConclusionThis case highlights the development of VPI due to extensive spinal intervention. However, dedicated rehabilitation endeavors with speech therapy were instrumental in mitigating the symptoms of this patient.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE: -

REVISTA / JOURNAL: - Nutrients. 2026 May 28;18(11):1727. doi: 10.3390/nu18111727. Free PMC article.

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AUTORES / AUTHORS: - Thomas Cahill et al

INSTITUCIÓN / INSTITUTION: - Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, 08003 Barcelona, Spain

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) are at an increased risk of obesity and, subsequently, its cardiometabolic and cognitive impacts. Caregivers play a critical role in managing health, yet their perceptions and behaviors have been poorly characterized. Methods: We performed a cross-sectional online survey of caregivers (n = 764) taking care of 48% females and 52% males with DS, conducted across European populations, predominantly in Spain and France. We assessed perceived obesity, perceived harmfulness of current weight, professional consultation, and confidence in promoting healthy behaviors. Associations were examined using chi-square tests, correlation analysis, and ordinal and logistic regression models. Results: Around one-third (32%) of caregivers perceived their family member with DS with obesity. Perceived obesity changed with age and was more frequently reported in female family members with DS. Awareness of general metabolic risk factors was high among caregivers, but half of respondents were unaware that abdominal fat affects brain health. Consultation with healthcare professionals was uncommon (57% "Never/Rarely/Sometimes") even among those perceived with obesity. Conclusions: Caregivers demonstrate good general awareness about high energy food risks but limited knowledge of the link between obesity and brain health. Enhancing caregiver education and supporting behavioral change could promote healthier lifestyles in families with individuals with DS.

TÍTULO / TITLE: - Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Individuals with Down Syndrome: Insights from a Large European Survey

REVISTA / JOURNAL: - Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Ind

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AUTORES / AUTHORS: - Thomas Cahill et al.

INSTITUCIÓN / INSTITUTION: - Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain.

RESUMEN / SUMMARY: - Background: Lifestyle factors such as diet and physical activity significantly impact on the risk of obesity in individuals with Down syndrome (DS). However, in the absence of national nutritional guidelines in individuals with DS, further work is needed to understand their dietary and physical activity patterns. In this work we retrieved caregivers responses on those aspects. Methods: We analyzed data from a cross-sectional online survey of caregivers of individuals with DS conducted as part of the GO-DS21 project and reported in the accompanying paper (nutrients-4216283) (n = 764). We explored physical activity patterns, dietary habits, beliefs around weight-loss interventions and caregiver confidence that family members with DS would engage in a healthier lifestyle. Associations were examined using correlation analysis, and cumulative and binary logistic regression models. Results: Caregivers reported that most individuals with DS exercised 1-3 times per week, with frequency declining with age. Males were more likely to exercise daily than females. Caregiver exercise frequency was positively correlated with that of their DS family member (ρ = 0.521, p < 0.001), suggesting clustering of shared health behaviors within households. In adjusted models, caregivers who exercised regularly had up to thirteen-fold higher odds of having a physically active family member with DS (aOR = 13.02, 95% CI: 7.40-24.06, p < 0.001). Fried food consumption and higher snack frequency were independently associated with perceived obesity status, while sugar-sweetened beverage consumption was not. Caregivers favored exercise as a weight-loss strategy, while anti-obesity drugs were endorsed by only 11% of caregivers primarily and were more likely to be endorsed when obesity was perceived (aOR = 4.21, 95% CI: 2.44-7.39, p < 0.001). Finally, caregiver confidence that their family member with DS would engage in healthier behaviors was associated with perceived obesity status and stron

TÍTULO / TITLE: - Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model

REVISTA / JOURNAL: - Elife 2026 Aug 3:15:RP110476. doi: 10.7554/eLife.110476. Free PMC article.

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AUTORES / AUTHORS: - Fangluo Chen ET AL.

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Pharmacology and Therapeutics, Johns Hopkins University, School of Medicine, Baltimore, United States.

RESUMEN / SUMMARY: - Gene dosage imbalance resulting from an extra copy of human chromosome 21 (Hsa21) contributes to numerous clinical features in Down syndrome (DS). While dysregulated metabolism has long been noted in DS, the underlying cause is poorly understood and vastly understudied. To fill this critical knowledge gap, we conducted a comprehensive metabolic analysis of Dp(16)1Yey/+mice (abbreviated Dp16), a segmental duplication model carrying ~58% of the triplicated Hsa21 gene orthologs. Our multi-tissue transcriptomic analyses reveal shared and sex-specific increases in expression dosage of the triplicated genes in white and brown adipose tissues, liver, skeletal muscle, and hypothalamus. Despite sexual dimorphism in body weight, body temperature, food intake, and physical activity, Dp16 males and females share striking core phenotypes of pronounced insulin resistance, glucose intolerance, impaired lipid clearance, and dyslipidemia. Functional assessments, combined with biochemical, transcriptomic, and metabolomic analyses reveal tissue signatures of immune activation and a pro-inflammatory state, ER and oxidative stress, fibrosis, impaired glucose and fatty acid catabolism, altered lipid and bile acid profiles, and reduced mitochondrial respiratory capacity in Dp16 mice. These concerted changes disrupt homeostatic mechanisms that underpin metabolic health, contributing to systemic metabolic dysfunction. An obesogenic diet further exacerbates insulin resistance in Dp16 males and females despite divergent weight gain. The collective phenotypes broadly reflect the metabolic profile of DS. Our extensive molecular, biochemical, and physiological data provide an essential foundation for genetic dissection of dosage-sensitive genes affecting glucose and lipid metabolism, and for testing therapeutic strategies to improve metabolic outcomes in DS.

TÍTULO / TITLE: - Immunometabolic interactions in individuals with down syndrome across childhood, adolescence and adulthood in relation to their siblings

REVISTA / JOURNAL: - Front Immunol. 2026 Jul 7:17:1838695. doi: 10.3389/fimmu.2026.1838695.eCollection2026.Free PMC arti

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AUTORES / AUTHORS: - Anna Tylutka et al.

INSTITUCIÓN / INSTITUTION: - Department of Applied and Clinical Physiology, Collegium Medicum University of Zielona Gora, Zielona Gora, Poland.

RESUMEN / SUMMARY: - Introduction and aim: Down syndrome is the most common chromosomal disorder characterized by a wide spectrum of clinical symptoms such as immune system dysregulation and co-occurring metabolic disorders, including an increased risk of cardiovascular disease. Therefore, the aim of this study was to evaluate the immunometabolic interactions in children adolescents and adults with Down syndrome (DS) and to compare selected inflammatory and metabolic parameters with those observed in their siblings. Materials and methods: The study included n= 63 individuals who were divided into two groups: group with DS n=42 (mean age: 14.2 ± 6.6) and control group (CG) n=21 (mean age: 15.6 ± 6.9). In addition, patients in both groups were also divided according to age ≤ 18 years and >18 years of age. Carbohydrate-lipid and immunological profiles were analyzed using spectrophotometric and immunoenzymatic methods. Statistical analysis was performed using R studio software. Results: In the DS group ≤ 18 years significantly higher obesity rates, i.e., Ponderal Mass Index (TMI), were observed (p=0.04), which was also associated with statistically significantly higher level of non-HDL (p=0.02) and apoB (p=0.04). Among lipid parameters, apolipoprotein A demonstrated relatively high diagnostic utility (AUC = 0.818, sens%=60.0, spec%=95.2). Significantly lower cytokine levels were observed in the DS group for IL-10 (p=0.006), IL-13 (p<0.01), and IL-22 (p=0.002). The highest diagnostic utility among the assessed cytokines was demonstrated for IL-5 (AUC = 0.814, sens%=71.10, spec%=88.1). Conclusion: The analyses conducted indicate significant differences between the studied groups of patients with Down syndrome and the control group. The presence of an additional copy of 21 the chromosome leads to changes in the immune system, influences the heterogeneous cytokine profile, and consequently may increase the development of metabolic disorders.

TÍTULO / TITLE: - Endocrine and Digestive Disorders Arising in Childhood in Down Syndrome and Their Cross-Talk

REVISTA / JOURNAL: - Nutrients. 2026 Jun 14;18(12):1928. doi: 10.3390/nu18121928. Free PMC article.

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AUTORES / AUTHORS: - Giuseppe Cannalire et al

INSTITUCIÓN / INSTITUTION: - Pediatrics and Neonatology Unit, University of Parma, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy 21, is associated with a wide spectrum of endocrine and gastrointestinal disorders that often arise early in life and significantly impact long-term health. This narrative review examines the pathophysiological mechanisms underlying these conditions, with a particular focus on their bidirectional interactions. Endocrine abnormalities in DS, including thyroid dysfunction, type 1 diabetes mellitus, growth impairment, and altered bone metabolism, occur at higher rates than in the general population and are largely driven by immune dysregulation, chronic inflammation, and gene dosage effects. Similarly, gastrointestinal disorders-ranging from congenital malformations to autoimmune conditions such as celiac disease-are highly prevalent and often present with atypical clinical features. Emerging evidence highlights the central role of gut dysbiosis, characterized by reduced microbial diversity and increased pro-inflammatory taxa, in modulating immune and metabolic pathways. This altered gut environment contributes to a chronic inflammatory state and may promote autoimmunity and endocrine dysfunction through the gut-endocrine-immune axis. Nutritional deficiencies and epigenetic factors, including microRNA dysregulation, further influence disease expression. Understanding this complex cross-talk is essential for improving clinical management. Integrated, multidisciplinary approaches and early screening strategies are crucial to optimize outcomes and guide future research in DS.

TÍTULO / TITLE: - Assessing the Diagnostic Performance of Triglyceride-Glucose-Based Indices for Early Detection of Metabolic Syndrome in Paediatric Down Syndrome

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jun 24. doi: 10.1111/jir.70134. Online ahead of print.

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AUTORES / AUTHORS: - Valeria Calcaterra et al.

INSTITUCIÓN / INSTITUTION: - Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy.

RESUMEN / SUMMARY: - Background: Down syndrome (DS) youth have an increased risk of metabolic syndrome (MetS). This study assessed the diagnostic performance of the triglyceride-glucose index (TyG) and its derivatives-TyG-BMI, TyG-waist circumference (WC) and TyG-waist-to-height ratio (WHtR) in detecting MetS compared with traditional markers. Methods: We retrospectively analysed data from 60 DS patients and 40 controls; IR was estimated using HOMA-IR, TyG, TyG-BMI, TyG-WC and TyG-WHtR indices. MetS was defined by the presence of at least three of the following criteria: BMI z-score ≥ 2 SD and/or WC/H ratio ≥ 0.5; fasting glucose > 100 mg/dL and/or pathological HOMA-IR; dyslipidaemia; hypertension. Results: MetS prevalence was 15% in DS. HOMA-IR showed the highest sensitivity (0.667) and specificity (0.80) to detect MetS, while TyG demonstrated similar performance (sensitivity 0.667; specificity 0.843) and the best overall accuracy (0.817). Composite indices showed moderate accuracy but high specificity. Conclusions: TyG, being simple and cost-effective, may be a valuable alternative for early MetS detection in DS.

Epidemiology - Epidemiología

TÍTULO / TITLE: - Death in People with Down syndrome: Mortality statistics and novel predictors in US Medicaid and Medicare enrolled adults

REVISTA / JOURNAL: - medRxiv [Preprint]. 2026 Jul 20:2026.07.17.26358090. doi: 10.64898/2026.07.17.26358090.Free PMC art

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AUTORES / AUTHORS: - Salina Tewolde et al.

INSTITUCIÓN / INSTITUTION: - Boston University School of Public Health, Department of Epidemiology 715 Albany Street, Boston MA, 02121, USA.

RESUMEN / SUMMARY: - People with Down syndrome have higher age-specific mortality rates compared to the general population as well as peers with other intellectual and developmental disabilities. While a large proportion of mortality is attributable to Alzheimers disease, many die prior to Alzheimers diagnosis and some live to old ages, dying without Alzheimers. Our objectives were to use 11 years of Medicaid and Medicare data to describe characteristics and factors related to death in adults with Down syndrome and use machine learning to identify which conditions most strongly predict death in the full population and stratified by age. We identified death using Center for Medicare and Medicaid Systems reported date of death health conditions using ICD 9 and 10 codes. We used a case-control design with risk set sampling to have that controls to mimic the distribution of times of incident Alzheimers disease. We trained gradient boosted trees to identify strongest predictors. Our cohort included 137,293 adults with Down syndrome. Among those, 30,894 (22.5%) died during the study period. Mean age at death among those who died was 55 years (SD=10). Mean age of death in those with Alzheimers disease was 59 (SD=7) and those without was 52 (SD=12). The most influential predictors of mortality were any claim for dementia, any claim for pneumonia, re-occurring claim for cardiovascular disease three years before index death, and any claim for heart failure and epilepsy. Our results align with previous clinical work and highlight intervenable areas to reduce mortality in the Down syndrome population.

TÍTULO / TITLE: - Spectrum of Congenital Anomalies Among Neonates With Trisomy 21 Born at Salmaniya Medical Complex, Bahrain: A Retrospective Review (2015-2020)

REVISTA / JOURNAL: - Cureus. 2026 Jun 12;18(6):e110758. eCollection 2026 Jun. Free PMC article.

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/41664743/

AUTORES / AUTHORS: - Abdulraoof Almadhoob et al.

INSTITUCIÓN / INSTITUTION: - Neonatology, Salmaniya Medical Complex, Manama, BHR

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is the most prevalent chromosomal disorder globally and is frequently associated with a complex spectrum of multisystem congenital malformations, including cardiovascular, gastrointestinal, endocrine, and hematological disorders. This study aimed to evaluate the clinical spectrum of congenital malformations among neonates with Trisomy 21 born at Salmaniya Medical Complex (SMC), the primary tertiary referral center in Bahrain. Methods: A retrospective descriptive study was conducted using total population sampling (census) of 110 infants with a confirmed diagnosis of DS registered in the iSeha electronic system over a five-year period (2015 to January 2020). Clinical data, including demographics, perinatal history, and multisystem comorbidities, were extracted and analyzed using SPSS version 29 (IBM Corp., Armonk, NY, USA). Results: The cohort consisted of 57.3% male population, with a mean maternal age of 35.47 ± 6.76 years. A significant proportion of the neonates (73.6%) required NICU admission, primarily due to congenital heart disease, poor weight gain, and hypoglycemia. Cardiovascular anomalies represented the most significant clinical burden (78.2%), with patent ductus arteriosus (22.7%) and atrioventricular septal defect (18.2%) being the most frequent. Gastrointestinal and hepatic findings were present in 17.3% of the cohort, most notably imperforate anus (4.5%) and duodenal atresia (3.6%), while neonatal jaundice affected 54.5% of the cohort. Hematological disorders were common, including polycythemia (23.6%) and thrombocytopenia (20.9%). Notably, acute myeloid leukemia (AML) was diagnosed in 4.5% of the cohort. Conclusion: Neonates with DS in Bahrain exhibit a high prevalence of multisystem congenital anomalies, with cardiovascular and hematological disorders being the most prominent. These findings underscore the critical need for structured, multidisciplinary neonatal screening and specialized care frameworks to optimize c

Gastroenterology - Gastroenterología

TÍTULO / TITLE: - Cryptogenic Multifocal Ulcerating Stenosing Enteritis (CMUSE) in a Patient with Down Syndrome: A Case Report

REVISTA / JOURNAL: - Reports (MDPI). 2026 Jul 20;9(3):231. doi: 10.3390/reports9030231. Free PMC article.

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AUTORES / AUTHORS: - Akash Bharatbhai Patel et al.

INSTITUCIÓN / INSTITUTION: - Peninsula University Hospital, Bayside Health, Frankston, VIC 3199, Australia

RESUMEN / SUMMARY: - Background and Clinical Significance: Cryptogenic multifocal ulcerating stenosing enteritis (CMUSE) is a rare idiopathic disorder of the small bowel which remains diagnostically challenging because it can closely mimic Crohn s disease, celiac disease, and non-steroidal anti-inflammatory drug (NSAID)-induced enteropathy; Case Presentation: We report a 44-year-old man with Down syndrome, Hirschsprung s disease, celiac disease, and multiple prior abdominal operations who developed recurrent small-bowel strictures of uncertain cause. Initial management involved endoscopic assessment and jejunal dilatation, but this became neither technically feasible nor durable as the disease progressed. He therefore underwent exploratory laparotomy with small-bowel resection to relieve obstruction and to obtain adequate tissue for diagnosis. On balance, the presence of multifocal ulceration, recurrent mucosa-predominant strictures, and non-transmural jejunitis supported a diagnosis of CMUSE; Conclusions: This case highlights the rarity and diagnostic difficulty of CMUSE, which may closely resemble Crohn s disease in patients with recurrent small-bowel strictures and obstructive symptoms. Early and ongoing MDT coordination (surgery, gastroenterology, radiology, dietetics, and infectious diseases) supports anatomy definition, complication control, and coherent long-term management focused on function and quality of life.

TÍTULO / TITLE: - Endocrine and Digestive Disorders Arising in Childhood in Down Syndrome and Their Cross-Talk

REVISTA / JOURNAL: - Nutrients. 2026 Jun 14;18(12):1928. doi: 10.3390/nu18121928. Free PMC article.

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AUTORES / AUTHORS: - Giuseppe Cannalire et al

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - Pediatrics and Neonatology Unit, University of Parma, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy. RESUMEN / SUMMARY: Down syndrome (DS), caused by trisomy 21, is associated with a wide spectrum of endocrine and gastrointestinal disorders that often arise early in life and significantly impact long-term health. This narrative review examines the pathophysiological mechanisms underlying these conditions, with a particular focus on their bidirectional interactions. Endocrine abnormalities in DS, including thyroid dysfunction, type 1 diabetes mellitus, growth impairment, and altered bone metabolism, occur at higher rates than in the general population and are largely driven by immune dysregulation, chronic inflammation, and gene dosage effects. Similarly, gastrointestinal disorders-ranging from congenital malformations to autoimmune conditions such as celiac disease-are highly prevalent and often present with atypical clinical features. Emerging evidence highlights the central role of gut dysbiosis, characterized by reduced microbial diversity and increased pro-inflammatory taxa, in modulating immune and metabolic pathways. This altered gut environment contributes to a chronic inflammatory state and may promote autoimmunity and endocrine dysfunction through the gut-endocrine-immune axis. Nutritional deficiencies and epigenetic factors, including microRNA dysregulation, further influence disease expression. Understanding this complex cross-talk is essential for improving clinical management. Integrated, multidisciplinary approaches and early screening strategies are crucial to optimize outcomes and guide future research in DS.

Genetics - Genética

TÍTULO / TITLE: - Chromosome 21 gene DSCAM drives Down syndrome phenotypes

REVISTA / JOURNAL: - Nat Rev Neurol. 2026 Aug;22(8):481. doi: 10.1038/s41582-026-01246-3.

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AUTORES / AUTHORS: - Lisa Kiani

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Duplication-based genetic dissection of the Down syndrome critical region reveals its complex functional organization

REVISTA / JOURNAL: - G3 (Bethesda). 2026 Jul 1:jkag173. doi: 10.1093/g3journal/jkag173. Online ahead of print. Free art.

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AUTORES / AUTHORS: - Xiaoling Jiang et al.

INSTITUCIÓN / INSTITUTION: - The Children s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA

RESUMEN / SUMMARY: - RESUMEN / SUMMARY: Down syndrome (DS), associated with trisomy 21, is the most common genetic cause of developmental delay and intellectual disability, yet the specific dosage-sensitive genes and the associated genetic mechanisms underlying these phenotypes remain incompletely defined. Here, we applied an additive genetic strategy to dissect the Down syndrome critical region (DSCR) by generating two complementary mouse models using Cre/loxP-mediated chromosome engineering that together span the entire DSCR on mouse chromosome 16: Dp(16)5Yey, duplicating the Setd4-Kcnj6 interval, and Dp(16)6Yey, duplicating the Kcnj15-Mx2 interval. In addition, we engineered a third duplication model, Dp(16)7Yey, carrying a selective duplication of the Dyrk1a-Kcnj6 interval containing only these two genes. Building upon our previously reported results, cognitive behavioral analyses of these three models reveal a complex functional genetic architecture of the DSCR, including dosage-sensitive genetic elements, interactions among these elements, and their contributions to DS-associated cognitive deficits. Together, these findings highlight the complexity of dosage-dependent genetic interactions, which provide important insights into DSCR functional organization and have major implications for the development of effective therapeutic strategies for DS-associated cognitive deficits. In addition, these duplication mouse models represent valuable resources for further genetic dissection of DS phenotypes beyond cognition.

TÍTULO / TITLE: - Complete chromosome 21 centromere sequencing of families with Down syndrome

REVISTA / JOURNAL: - Am J Hum Genet. 2026 Jul 2;113(7):1381-1398. doi: 10.1016/j.ajhg.2026.05.010. Epub 2026 Jun 17. Fre

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AUTORES / AUTHORS: - F Kumara Mastrorosa et al.

INSTITUCIÓN / INSTITUTION: - Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

RESUMEN / SUMMARY: - Down syndrome, the most common form of human intellectual disability, results from nondisjunction and an extra copy of chromosome 21 (chr21), also known as trisomy 21 (T21). Small centromeres have been hypothesized to contribute to its etiology, and studies on mice suggest that larger centromeres are more efficiently transmitted, yet complete sequencing of chr21 centromeres has been particularly challenging due to their repetitive nature and homology to chromosome 13. Using long-read sequencing, we sequenced and assembled the centromeres from eight families with a child with T21 (one parent-child trio, six mother-child duos, and one singleton), all resulting from maternal meiosis I errors. A comparison of all proband chr21 centromeres (n = 24) to those of control individuals (n = 287) shows that small centromeres are not enriched in families with T21 (p value = 0.72), contrary to earlier reports. However, chr21 extreme centromere size asymmetry (>10-fold) was observed for two of them. Mothers from these two families with T21 carry some of the smallest chr21 centromeres (143 and 181 kbp) observed in female individuals to date, exhibiting a ∼10.7- and ∼19.4-fold centromeric α-satellite higher-order repeat array size difference between the maternally inherited homologs, respectively. Phylogenetic reconstruction reveals that human chr21 is particularly prone to such asymmetry, with some of the biggest size differences occurring over the last ∼17,000 years of human evolution.

TÍTULO / TITLE: - The transcriptional landscape of developing human trisomy 21 lungs

REVISTA / JOURNAL: - Am J Respir Cell Mol Biol. 2026 Mar 1;74(3):388-402. doi: 10.1165/rcmb.2025-0217OC.

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AUTORES / AUTHORS: - Soumyaroop Bhattacharya et al.

INSTITUCIÓN / INSTITUTION: - Center for Children s Health Research, University of Rochester Medical Center, Rochester, NY, United States.

RESUMEN / SUMMARY: - Rationale: Trisomy 21 (T21), resulting in Down syndrome (DS), is the most prevalent chromosomal abnormality worldwide. While pulmonary disease is a major cause of morbidity and mortality in DS, the ontogeny of pulmonary complications remains poorly understood. We recently demonstrated that T21 lung anomalies, including airway branching and vascular lymphatic -abnormalities, are initiated in utero. Here, we aimed to describe molecular changes at the single-cell level in prenatal T21 lungs. Methods: Single-cell RNA sequencing was used to generate transcriptomic profiles of individual human lung cells in tissue obtained from T21 (n = 5) and non-T21 (n = 4) prenatal lungs. Clustering of cells, marker identification, uniform manifold approximation and projection representation, and differential expression analysis were performed in Seurat. Cell type annotation and pathway analysis were annotated using ToppFun and a human fetal lung cell atlas. Spatial differences in cellular phenotypes were validated using immunofluorescence staining and fluorescent in situ hybridization. Results: Our results detail changes in gene expression at the time of initiation of histopathological abnormalities in T21 prenatal lungs. Notably, we identify precocious differentiation of epithelial cells, widespread induction of key extracellular matrix molecules in mesenchymal cells, and hyperactivation of IFN signaling in endothelial cells. Conclusions: This single-cell dataset of T21 lungs greatly expands our understanding of antecedents to pulmonary complications and should facilitate efforts to mitigate respiratory disease in DS.

TÍTULO / TITLE: - A Researchers guide to rodent models of Down syndrome: Recent insights and translational perspectives

REVISTA / JOURNAL: - STAR Protoc. 2026 Jul 24;7(3):104717. doi: 10.1016/j.xpro.2026.104717. Free article

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AUTORES / AUTHORS: - Mir A Raza et al

INSTITUCIÓN / INSTITUTION: - Department of Biology, College of Arts & Sciences, University of Dayton, Dayton, OH 45469, USA.

RESUMEN / SUMMARY: - Rodent models of Down syndrome (DS) have been transformative in identifying basic mechanisms underlying the effects of Trisomy 21 at the molecular, cellular, physiological, and neurobehavioral levels. Each model, with its unique genomic architecture, has advanced our understanding of the complex multisystem etiology of DS. The availability of multiple models necessitates the challenge of selecting appropriate models to address a particular scientific question, experimental design, and translational relevance. This primer guides the reader through the various rodent models of DS and the genomic and phenotypic effects they recapitulate. We also provide recommendations and strategies for using DS rodent models to enable effective and robust forward and reverse translational approaches.

TÍTULO / TITLE: - Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model

REVISTA / JOURNAL: - Elife 2026 Aug 3:15:RP110476. doi: 10.7554/eLife.110476. Free PMC article.

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AUTORES / AUTHORS: - Fangluo Chen ET AL.

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Pharmacology and Therapeutics, Johns Hopkins University, School of Medicine, Baltimore, United States.

RESUMEN / SUMMARY: - Gene dosage imbalance resulting from an extra copy of human chromosome 21 (Hsa21) contributes to numerous clinical features in Down syndrome (DS). While dysregulated metabolism has long been noted in DS, the underlying cause is poorly understood and vastly understudied. To fill this critical knowledge gap, we conducted a comprehensive metabolic analysis of Dp(16)1Yey/+mice (abbreviated Dp16), a segmental duplication model carrying ~58% of the triplicated Hsa21 gene orthologs. Our multi-tissue transcriptomic analyses reveal shared and sex-specific increases in expression dosage of the triplicated genes in white and brown adipose tissues, liver, skeletal muscle, and hypothalamus. Despite sexual dimorphism in body weight, body temperature, food intake, and physical activity, Dp16 males and females share striking core phenotypes of pronounced insulin resistance, glucose intolerance, impaired lipid clearance, and dyslipidemia. Functional assessments, combined with biochemical, transcriptomic, and metabolomic analyses reveal tissue signatures of immune activation and a pro-inflammatory state, ER and oxidative stress, fibrosis, impaired glucose and fatty acid catabolism, altered lipid and bile acid profiles, and reduced mitochondrial respiratory capacity in Dp16 mice. These concerted changes disrupt homeostatic mechanisms that underpin metabolic health, contributing to systemic metabolic dysfunction. An obesogenic diet further exacerbates insulin resistance in Dp16 males and females despite divergent weight gain. The collective phenotypes broadly reflect the metabolic profile of DS. Our extensive molecular, biochemical, and physiological data provide an essential foundation for genetic dissection of dosage-sensitive genes affecting glucose and lipid metabolism, and for testing therapeutic strategies to improve metabolic outcomes in DS.

TÍTULO / TITLE: - Sex-specific developmental phenotypes and their response to neonatal Dyrk1a reduction in the Ts65Dn Down syndrome mouse model

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Jul 17:2026.07.15.738703. doi: 10.64898/2026.07.15.738703.

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AUTORES / AUTHORS: - Alyssa Duerst et al.

INSTITUCIÓN / INSTITUTION: - Department of Biology, Indiana University Indianapolis, 723 W Michigan Street, SL306, Indianapolis, IN 46202, USA.

RESUMEN / SUMMARY: - Children with Down syndrome (DS) experience delays in cognitive, physical, and motor development. Overexpression of Dual-specificity tyrosine phosphorylation-regulated kinase-1A (DYRK1A), a gene on human chromosome 21 (Hsa21) and triplicated in individuals with Trisomy 21, contributes to neurodevelopmental delays associated with DS, and is a candidate for therapies to improve neurodevelopmental phenotypes. Male and female Ts65Dn DS model pups are trisomic for ~100 Hsa21 orthologs including Dyrk1a, and both sexes show significant DYRK1A overexpression on postnatal day 6 (P6) in the hippocampus, cerebral cortex, and cerebellum. This study tested the hypothesis that normalization of Dyrk1a copy number in Ts65Dn pups prior to P6 would diminish physical and behavioral developmental outcomes in Ts65Dn mice, thus providing a standard of comparison for success of interventions targeting Dyrk1a. At P3-P21, Ts65Dn compared to euploid pups showed sex-specific deficits in physical, motor, and behavioral development. Male Ts,Dyrk1a +/+/Dox-Cre mice showed improved emergence to running on P19, and both sexes of Ts,Dyrk1a +/+/Dox-Cre mice exhibited reduced isolation-induced ultrasonic vocalizations during the second postnatal week. Dyrk1a normalization in Ts65Dn pups did not improve all abnormal phenotypes, perhaps because of developmental dysregulation between Dyrk1a RNA and DYRK1A protein levels, involvement of other trisomic genes, or improvements in only adult mice.

TÍTULO / TITLE: - Advances in Down Syndrome

REVISTA / JOURNAL: - Adv Pediatr. 2026 Aug;73(1):145-159. doi: 10.1016/j.yapd.2025.12.004. Epub 2026 Jan 29.

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AUTORES / AUTHORS: - Kinsa Thi Oo et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, David Geffen School of Medicine UCLA, Harbor UCLA Medical Center, 1000 W Carson Street, Torrance, CA 90509, USA; Lundquist Institute for Biomedical Innovation at Harbor UCLA Medical Center, 1124 W Carson Street, To

RESUMEN / SUMMARY: - Trisomy 21 (T21) is the most common chromosomal disorder worldwide and the leading cause of intellectual disability. Individuals with T21 present with unique facial features, developmental challenges, and multiorgan system defects including cardiovascular, pulmonary, gastrointestinal, endocrine, neurologic, hematological, immunologic diseases, and other systems. We reviewed the latest changes and advances in T21 management over the last 10 years, focusing on new findings and improvements in diagnosing, preventing, and treating complications across different organ systems, which have led to a longer lifespan and better quality of life for children with T21.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE: - The Down Syndrome Profile Emerges Gradually Across Early Development

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 Jul;39(4):e70218. doi: 10.1111/jar.70218. Free PMC article

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AUTORES / AUTHORS: - Hana D Souza et al.

INSTITUCIÓN / INSTITUTION: - Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, UK

RESUMEN / SUMMARY: - Background and aims: Down syndrome (DS) is associated with intellectual disability, with particular difficulties in expressive language and gross motor abilities, and relative strengths in receptive language. Here, we examine how this profile arises over the first five years of life. Methods: A total of 104 children with DS (6-63 months) participated in a standardised developmental assessment (Mullen Scales of Early Learning; MSEL). Developmental trajectories were analysed cross-sectionally and validated with a longitudinal subsample. Results: The trajectories gradually diverged from typical development, with an uneven pattern across domains. As children with DS get older, their gross motor difficulties persist, their expressive language becomes a relative weakness, and their receptive language becomes an area of emerging relative strength. Longitudinal data revealed limited stability of individual differences except for visual reception. Conclusion: Understanding how the DS profile emerges, as well as how stable individual differences are, presents important steps towards tailored support.

TÍTULO / TITLE: - Sex-specific developmental phenotypes and their response to neonatal Dyrk1a reduction in the Ts65Dn Down syndrome mouse model

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Jul 17:2026.07.15.738703. doi: 10.64898/2026.07.15.738703.

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AUTORES / AUTHORS: - Alyssa Duerst et al.

INSTITUCIÓN / INSTITUTION: - Department of Biology, Indiana University Indianapolis, 723 W Michigan Street, SL306, Indianapolis, IN 46202, USA.

RESUMEN / SUMMARY: - Children with Down syndrome (DS) experience delays in cognitive, physical, and motor development. Overexpression of Dual-specificity tyrosine phosphorylation-regulated kinase-1A (DYRK1A), a gene on human chromosome 21 (Hsa21) and triplicated in individuals with Trisomy 21, contributes to neurodevelopmental delays associated with DS, and is a candidate for therapies to improve neurodevelopmental phenotypes. Male and female Ts65Dn DS model pups are trisomic for ~100 Hsa21 orthologs including Dyrk1a, and both sexes show significant DYRK1A overexpression on postnatal day 6 (P6) in the hippocampus, cerebral cortex, and cerebellum. This study tested the hypothesis that normalization of Dyrk1a copy number in Ts65Dn pups prior to P6 would diminish physical and behavioral developmental outcomes in Ts65Dn mice, thus providing a standard of comparison for success of interventions targeting Dyrk1a. At P3-P21, Ts65Dn compared to euploid pups showed sex-specific deficits in physical, motor, and behavioral development. Male Ts,Dyrk1a +/+/Dox-Cre mice showed improved emergence to running on P19, and both sexes of Ts,Dyrk1a +/+/Dox-Cre mice exhibited reduced isolation-induced ultrasonic vocalizations during the second postnatal week. Dyrk1a normalization in Ts65Dn pups did not improve all abnormal phenotypes, perhaps because of developmental dysregulation between Dyrk1a RNA and DYRK1A protein levels, involvement of other trisomic genes, or improvements in only adult mice.

TÍTULO / TITLE: - Are Bioimpedance Parameters Altered in Adults With Down Syndrome? A Cross-Sectional Study

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jul 7. doi: 10.1111/jir.70143. Online ahead of print.

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AUTORES / AUTHORS: - Anselmo de Athayde Costa E Silva et al.

INSTITUCIÓN / INSTITUTION: - Graduate Program in Human Movement Sciences, Federal University of Pará, Belém, Brazil.

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) exhibit altered body composition that could be assessed through bioelectrical impedance analysis (BIA). This study aims to compare the BIA measures and bioelectrical impedance vector analysis (BIVA) between individuals with and without DS. Methods: We evaluated 46 individuals with and 46 without DS through BIA and BIVA. We employed generalized linear models (GLM) to assess the effects of group and sex on BIA, adjusting by age and height. Results: Individuals with DS had lower whole-body resistance/height (DS: 332.1 ± 51.1; non-DS: 349.0 ± 57.5 Ω/m), reactance/height (DS: 36.4 ± 5.0; non-DS: 41.9 ± 4.9 Ω/m) and impedance/height (DS: 334.1 ± 51.2; non-DS: 351.4 ± 57.6 Ω/m), while men with DS showed lower phase angle (DS: 6.4 ± 0.7; non-DS: 7.0 ± 0.5º) and lower bioimpedance index (DS: 50.8 ± 6.1; non-DS: 55.2 ± 6.5 Ω/m2); men and women with DS had higher total body water (males p = 0.030; females p = 0.006) and intracellular water (males p = 0.020; females p = 0.010) compared with individuals without DS; women had lower extracellular water (males p = 0.090; females p = 0.004) compared with individuals without DS; the bioelectrical vectors for individuals with DS were different from the population ellipses (p < 0.050), and showed overhydration compared with non-DS. Conclusions: Adults with DS showed a distinct hydration pattern in comparison with non-DS adults, as shown in BIA and BIVA analysis.

TÍTULO / TITLE: - Gut Microbiota Differences in Down Syndrome Are Most Pronounced in Childhood and Diminish With Age

REVISTA / JOURNAL: - Int J Microbiol. 2026 Jul 9:2026:6617119. doi: 10.1155/ijm/6617119. eCollection 2026. Free PMC art

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AUTORES / AUTHORS: - Jesus M Perez-Villarreal

INSTITUCIÓN / INSTITUTION: - Posgrado en Ciencias Biomédicas, Facultad de Ciencias Químico-Biológicas, Universidad Autonoma de Sinaloa, Culiacan, Sinaloa, Mexico, uas.edu.mx.

RESUMEN / SUMMARY: - Posgrado en Ciencias Biomédicas, Facultad de Ciencias Químico-Biol ogicas, Universidad Autonoma de Sinaloa, Culiacan, Sinaloa, Mexico, uas.edu.mx. RESUMEN / SUMMARY: Introduction: Down syndrome (DS) is linked to increased risks of metabolic, gastrointestinal, and neurodegenerative disorders. Early alterations in the gut microbiota have potential long-term health impacts. This report appears to be the first study to stratify DS participants by age to explore early-life microbiota changes. Methodology: We conducted a cross-sectional analysis of gut microbiota in children, adolescents, and adults with DS, compared with a control group, using Illumina iSeq100 sequencing of the V4 polymorphic region of the 16S rRNA gene. Results: Children with DS exhibited lower microbial diversity and a higher abundance of genera such as Sutterella and Enterococcus. These differences lessened in older groups, indicating a convergence with control profiles. Conclusion: Early alterations in gut microbiota in DS may contribute to metabolic and neurodegenerative risks, emphasizing the need for early interventions to potentially improve long-term health outcomes.

TÍTULO / TITLE: - Developmental Trajectories of Locomotor Skills in Infants With Down Syndrome

REVISTA / JOURNAL: - Pediatr Phys Ther. 2026 Jul 1;38(3):348-355. doi: 10.1097/PEP.0000000000001302. Epub 2026 Jul 6.

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AUTORES / AUTHORS: - Ellen N Sutter et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Sargent College of Health & Rehabilitation Sciences, Boston University, Boston, Massachusetts (Drs Sutter, Collimore-Doherty, Wilkerson, and Iverson); and Department of Pediatrics, Anna and John J. Sie Cente

RESUMEN / SUMMARY: - Purpose: Independent locomotion has cascading impacts on overall infant development. Although infants with Down syndrome (DS) attain locomotor milestones later, it is unknown how they use emerging skills (e.g., creeping and walking) in everyday play. Methods: This longitudinal observational study used behavioral coding to investigate locomotion quantity and type during play in infants with DS (n = 13), and changes with the acquisition of new motor skills. The amount of time locomoting was compared with 25 typically developing infants.Results: Infants with DS spent less time locomoting than typically developing infants, and their locomotion time changed less with age and motor skill level. Infants with DS also continued to rely on floor mobility skills even after attaining upright locomotor skills. Conclusions: Detailed behavioral coding identified differences in real-world locomotion used by infants with DS with potential implications for motor skill learning and development.

TÍTULO / TITLE: - Developmental Milestones for Children With Down Syndrome: Revised Estimates Using Moving Average Summaries

REVISTA / JOURNAL: - Ann Child Neurol Soc 2026 Mar 25;4(2):140-144. doi: 10.1002/cns3.70065. eCollection 2026 Jun. Free P

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AUTORES / AUTHORS: - Rahaf Tarawneh et al.

INSTITUCIÓN / INSTITUTION: - 1Department of Biostatistics Harvard T.H. Chan School of Public Health Boston Massachusetts USA

RESUMEN / SUMMARY: - : Objective: Children with Down syndrome follow distinct developmental trajectories that require specialized monitoring and counseling. We aimed to provide updated estimates of developmental milestone attainment using a nonparametric approach and to compare these results with previously reported generalized linear mixed-effects model (GLMM) estimates. Methods: We reanalyzed developmental data from 842 children with Down syndrome (ages 2 months to 24 years). For each milestone, achievement rates were calculated within overlapping 0.5-year time windows, and shape-constrained additive models were used to derive monotonic regression curves. Results: Compared with GLMM-based estimates, the nonparametric approach predicted milestone attainment at least 1 year earlier for 17 of 25 milestones at the highest comparable percentile. Early gross motor milestones showed consistent achievement patterns across methods, whereas more complex adaptive, language, and academic skills demonstrated greater variability and were more sensitive to modeling assumptions. Females achieved 17 of 25 milestones at least 1 year earlier than males. Conclusions: These findings highlight substantial developmental heterogeneity and support the potential for continued skill acquisition throughout childhood and adolescence in individuals with Down syndrome. The updated estimates provide clinically relevant reference points to guide individualized monitoring, anticipatory guidance, and family counseling.

TÍTULO / TITLE: - Some Biomechanical and Anthropmetric Differences Between Elite Swimmers with Down Syndrome and Intellectual Disabilities

REVISTA / JOURNAL: - Sports (Basel). 2026 Jan 6;14(1):28. doi: 10.3390/sports14010028. Free PMC article

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AUTORES / AUTHORS: - Ana Querido et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - The purpose was to characterize and compare biomechanical and coordinative parameters at maximum velocity between swimmers with Down syndrome and intellectual disabilities and examine these in relation to their anthropometrics. Nine swimmers (four with Down syndrome and five with intellectual disabilities) performed three bouts of 25 m crawl stroke, each at maximum velocity, which were recorded with the Qualysis motion analysis system. Anthropometric variables, BMI, and percentage of body fat were also assessed. Swimmers with Down syndrome presented a smaller height, acromion height, sitting height, arm span, hand length, hand width, foot length, foot width, and velocity than swimmers with intellectual disabilities. Swimmers with Down syndrome have disadvantageous anthropometrics and slower swimming velocities compared to swimmers with intellectual disabilities. Those swimmers also appear to present distinctive coordination (catch-up for Down syndrome and superposition for intellectual disabilities) and intracyclic velocity variation (Down syndrome presented higher values) compared to swimmers with intellectual disabilities, suggesting a lower swimming efficiency.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE: - The purpose was to characterize and compare biomechanical and coordinative parameters at maximum velocity between swimmers with Down syndrome and intellectual disabilities and examine these in relatio

REVISTA / JOURNAL: - Pediatr Blood Cancer. 2026 Jul 29:e70467. doi: 10.1002/1545-5017.70467. Online ahead of print.

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AUTORES / AUTHORS: - Amanda M Li et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, British Columbia Children s Hospital, University of British Columbia, Vancouver, British Columbia, Canada

RESUMEN / SUMMARY: - Children with Down syndrome (DS) experience excessive treatment-related mortality (TRM), primarily due to infectious complications, during treatment for acute lymphoblastic leukemia (ALL). This risk further increases during the intensive chemotherapy required to treat a relapse of ALL, limiting the feasibility of conventional intensive relapse chemotherapy. Anti-cluster of differentiation 19 (CD19) chimeric antigen receptor (CAR) T-cell therapy is an emerging treatment option for children with DS and relapsed B-ALL, including those in first relapse. This approach has demonstrated promising efficacy while potentially reducing the TRM associated with intensive salvage chemotherapy. Access to this form of immunotherapy for patients with DS and relapsed B-ALL is strongly encouraged.

TÍTULO / TITLE: - The effect of cohesin mutations on HLA-class II expression in the myeloid leukemia of Down syndrome

REVISTA / JOURNAL: - Leukemia. 2026 Jul 21. doi: 10.1038/s41375-026-03074-2. Online ahead of print.

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AUTORES / AUTHORS: - Austin C Boucher et al.

INSTITUCIÓN / INSTITUTION: - Department of Hematology, St. Jude Children s Research Hospital, Memphis, TN, USA

RESUMEN / SUMMARY: - Children with Down syndrome (DS) frequently develop transient abnormal myelopoiesis that can evolve to the myeloid leukemia of DS (ML-DS). TAM spontaneously resolves in most cases but progresses to ML-DS with additional mutations, most commonly in the cohesin complex. However, the mechanisms by which these alterations promote leukemia are unknown. We leveraged the RAD21-mutant CMY cell line and RAD21-corrected CMY isogenic clones, as well as patient data, to investigate the effect of cohesin mutations during leukemia progression. RNA-sequencing revealed that HLA-class II genes were significantly down-regulated with cohesin mutations. Furthermore, HLA-DR was found to be lower in ML-DS relative to TAM, and these decreased levels were associated with increased risk of leukemia progression. Multi-omic analyses revealed that haploinsufficiency of RAD21 altered chromatin accessibility and impaired the occupancy of GATA1s and CIITA, the master regulator of HLA-class II gene expression. Chromatin binding of CIITA was increased with RAD21 correction, providing a mechanism by which restoration of cohesin improves HLA-class II expression. Finally, decreased levels of RAD21 or STAG2 expression in other subtypes of AML also exhibited reduced expression of HLA-class II genes. Thus, cohesin may contribute to leukemia by altering HLA-class II gene expression.

TÍTULO / TITLE: - The spatial and multi-omic landscape of Down syndrome leukemogenesis: moving beyond cellular heterogeneity

REVISTA / JOURNAL: - Exp Hematol Oncol. 2026 Aug 6;15(1):72. doi: 10.1186/s40164-026-00815-y.

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AUTORES / AUTHORS: - Edoardo Peroni et al

INSTITUCIÓN / INSTITUTION: - Immunology and Molecular Oncology Unit, Veneto Institute of Oncology, IOV-IRCCS, Padova, 35128, Italy.

RESUMEN / SUMMARY: - Down syndrome (DS) confers a developmentally rooted predisposition to both myeloid and lymphoid leukemias, particularly myeloid leukemia associated with DS (ML-DS) and acute lymphoblastic leukemia associated with DS (ALL-DS). While trisomy 21-driven gene dosage imbalance is central to this risk, DS leukemogenesis cannot be fully explained by recurrent mutations alone; it reflects a dynamic interplay between altered hematopoietic development, cell-intrinsic programs, and tissue microenvironmental cues. In this perspective, we argue that the field should move beyond cataloging cellular heterogeneity and adopt a topographic, multi-omic framework of DS leukemogenesis. We discuss how fetal niche biology shapes pre-leukemic evolution in ML-DS, including the developmental context of GATA1-mutant clones, and how therapy-driven bottlenecks may promote persistence of spatially protected residual disease in ALL-DS. We further highlight the translational potential of integrating spatially resolved transcriptomics with single-cell and protein-aware multi-omics to identify compartment-specific signaling programs and clinically actionable vulnerabilities. A spatially informed model of DS leukemia may improve biological stratification, clarify mechanisms of relapse and toxicity, and support the development of more effective and less toxic therapeutic strategies.

TÍTULO / TITLE: - Ixazomib with chemotherapy for childhood relapsed acute lymphoblastic leukemia: a TACL consortium report

REVISTA / JOURNAL: - Blood Neoplasia. 2026 May 16;3(3):100247. doi: 10.1016/j.bneo.2026.100247.Free PMC article

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AUTORES / AUTHORS: - Eric S Schafer et al

INSTITUCIÓN / INSTITUTION: - Division of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine/Dan L. Duncan Cancer Center, Houston, TX.

RESUMEN / SUMMARY: - Ixazomib (MLN 9708) is an oral proteasome inhibitor, preclinically more potent than bortezomib, that is currently US Food and Drug Administration-approved for the treatment of multiple myeloma. We conducted a phase 1/2 study to estimate the maximum tolerated dose, recommended phase 2 dose (RP2D), and early efficacy of ixazomib when combined with chemotherapy in pediatric patients with relapsed/refractory (R/R) acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LL). Patients aged ≤21 years with R/R ALL/LL (including Down syndrome) were eligible. Ixazomib was combined with up to 3 different 28-day blocks of well-established, relapsed ALL chemotherapy. Ixazomib was tested at 2 dose levels (DL; DL1: 1.6 mg/m2 per dose; DL2: 2 mg/m2 per dose) using a 3+3 design. Dose-limiting toxicities (DLTs) during block 1 were used to make DL escalation decisions. Twenty-four patients enrolled, all with ALL (10 in phase 1, 14 in phase 2). The most common categories of grade ≥3 attributable adverse events were gastrointestinal disorders (n = 12) and febrile neutropenia (n = 9). Two patients experienced a DLT (both treated at DL2 in phase 2), however, DL2 was determined to be the RP2D. The complete response rate for evaluable patients was 67%; 64% (9/14) of whom were also flow minimal residual disease negative. The half-life was consistent across DLs and was comparable with that previously reported in adults. Oral capsule and liquid formulations were determined to be palatable. Ixazomib can be combined with chemotherapy with an acceptable safety profile and an encouraging early efficacy signal in pediatric R/R ALL. This trial was registered at www.clinicaltrials.gov as NCT03817320.

TÍTULO / TITLE: - Cancer Frequencies and Screening in Individuals With Down Syndrome: A Comprehensive Nationwide Cross-Sectional Analysis

REVISTA / JOURNAL: - JCO Glob Oncol. 2026 Jun;12(6):e2500710. doi: 10.1200/GO-25-00710. Epub 2026 Jun 24.

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AUTORES / AUTHORS: - Tanja Sappok et al.

INSTITUCIÓN / INSTITUTION: - Medical School and University Medical Center OWL, Bielefeld University, University Clinic for People with Neurodevelopmental Disorders, Mara Hospital, Bielefeld, Germany.

RESUMEN / SUMMARY: - Purpose: Down syndrome (DS) (trisomy 21) presents a distinctive cancer profile requiring risk-adapted surveillance strategies. This study examined cancer prevalence and screening participation patterns in individuals with DS to inform clinical care protocols. Methods: This large-scale retrospective cross-sectional study analyzed German nationwide statutory health insurance outpatient data, comparing 46,362 individuals with DS (International Classification of Diseases [ICD]-10: Q90) with 463,620 matched controls without intellectual disability (including DS), stratified by age, sex, and residential district. Logistic regression analysis evaluated cancer occurrence and screening program participation between groups. Results: Cancer prevalence was lower in the DS group compared with the matched control group (2.4% v 2.8%; odds ratios [OR], 0.85 [95% CI, 0.80 to 0.91]; P < .00001; corrected: P = .00002) and occurred at younger age. However, individuals with DS demonstrated markedly elevated odds for hematologic malignancies: unspecified cell type leukemia (OR, 10.32), lymphatic leukemia (OR, 6.12), and myeloid leukemia (OR, 6.32), and testicular cancer (OR, 4.25). Conversely, breast cancer (OR, 0.36), digestive system tumors (OR, 0.39), and malignant melanomas (OR, 0.52) were significantly less frequent. Notably, individuals with DS participated less frequently in cancer screening programs (17.03% v 26.17%; OR, 0.58 [95% CI, 0.56 to 0.59]). Conclusion: The distinctive cancer profile in DS reflects elevated leukemia and testicular cancer risks alongside protection against solid malignancies, consistent with the chromosomal biology of trisomy 21. Reduced screening participation may partially explain lower overall cancer prevalence and warrants future research. These findings underscore the need for syndrome-specific surveillance protocols targeting high-risk malignancies and further molecular characterization of cancer predisposition and protection mechanisms.

TÍTULO / TITLE: - Biological and pathogenic roles of major genes harbored in intrachromosomal amplification of chromosome 21 in childhood acute lymphoblastic leukemia (Review)

REVISTA / JOURNAL: - Oncol Lett. 2026 Jun 3;32(2):323. doi: 10.3892/ol.2026.15678. eCollection 2026 Aug. Free PMC articl

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AUTORES / AUTHORS: - Conrado Emilio Ur�a-G omez et al.

INSTITUCIÓN / INSTITUTION: - Human Genetics Laboratory, Faculty of Medicine, Autonomous University of Mexico State, Toluca de Lerdo, State of Mexico 50180, Mexico.

RESUMEN / SUMMARY: - Chromosomal alterations are key in the study of acute lymphoblastic leukemia (ALL) as they facilitate the establishment of risks, prognosis and treatment. The intrachromosomal amplification of chromosome 21 (iAMP21) can generate a structurally heterogeneous derivative chromosome 21 that can typically replace a normal chromosome 21 and defines a subtype of high-risk childhood ALL (iAMP21-ALL). A region commonly involved in this amplification has been delineated and includes genes such as chromatin assembly factor 1 subunit B, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, erythroblast transformation-specific-related gene, high mobility group nucleosome binding domain 1 and Runt-related transcription factor 1, but its role in the development of leukemia has not yet been fully elucidated. The Down syndrome critical region on chromosome 21 (ripply transcriptional repressor 3) overlaps with a common amplification region in iAMP21. Therefore, it has been hypothesized that iAMP21-related genes may be associated with Down syndrome susceptibility to ALL. The present review described the biological role of iAMP21-related genes and their relationship with ALL development.

Infectious diseases - Infecciones

TÍTULO / TITLE: - Beyond the Immunization Schedule: Unmasking Vaccine Failure in a Child With Down Syndrom

REVISTA / JOURNAL: - Case Rep Pediatr. 2026 Jun 19:2026:9928987. doi: 10.1155/crpe/9928987. eCollection 2026. Free PMC a

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AUTORES / AUTHORS: - Stacy B Buchanan, Marissa Terry

INSTITUCIÓN / INSTITUTION: - Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, Georgia, USA, emory.edu

RESUMEN / SUMMARY: - Children with Down syndrome (DS) commonly experience recurrent infections and may have altered immune responses to routine vaccinations. Primary care providers routinely monitor typical DS-associated comorbidities, but immunization effectiveness is not regularly assessed. Current guidelines recommend standard childhood vaccination schedules for children with DS, though evidence suggests some may have inadequate immune responses despite complete vaccination records. Here, we report the case of a 5-year-old child with DS who experienced frequent respiratory infections despite adherence to recommended immunizations and management of common comorbidities including cardiac disease, laryngomalacia, and gastroesophageal reflux disease. Following immunology consultation and administration of the 23-valent pneumococcal vaccine, the frequency of respiratory infections notably decreased. This case highlights the importance of considering vaccine response when evaluating recurrent infections in children with DS, even when routine immunization records are complete. The management approach demonstrated how broadening the differential diagnosis beyond typical DS-associated conditions and implementing additional immunization strategies can improve clinical outcomes. This case represents a possible approach that can inform shared decision-making discussions between clinicians and families of children with DS regarding immunization monitoring and enhanced vaccination strategies.

TÍTULO / TITLE: - Immunometabolic interactions in individuals with down syndrome across childhood, adolescence and adulthood in relation to their siblings

REVISTA / JOURNAL: - Front Immunol. 2026 Jul 7:17:1838695. eCollection 2026. Free PMC article.

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/42245676/

AUTORES / AUTHORS: - Anna Tylutka et al.

INSTITUCIÓN / INSTITUTION: - Departmnt of Applied and Clinical Physiology, Collegium Medicum University of Zielona Gora, Zielona Gora, Poland.

RESUMEN / SUMMARY: - Introduction and aim: Down syndrome is the most common chromosomal disorder characterized by a wide spectrum of clinical symptoms such as immune system dysregulation and co-occurring metabolic disorders, including an increased risk of cardiovascular disease. Therefore, the aim of this study was to evaluate the immunometabolic interactions in children adolescents and adults with Down syndrome (DS) and to compare selected inflammatory and metabolic parameters with those observed in their siblings. Materials and methods: The study included n= 63 individuals who were divided into two groups: group with DS n=42 (mean age: 14.2 ± 6.6) and control group (CG) n=21 (mean age: 15.6 ± 6.9). In addition, patients in both groups were also divided according to age ≤ 18 years and >18 years of age. Carbohydrate-lipid and immunological profiles were analyzed using spectrophotometric and immunoenzymatic methods. Statistical analysis was performed using R studio software. Results: In the DS group ≤ 18 years significantly higher obesity rates, i.e., Ponderal Mass Index (TMI), were observed (p=0.04), which was also associated with statistically significantly higher level of non-HDL (p=0.02) and apoB (p=0.04). Among lipid parameters, apolipoprotein A demonstrated relatively high diagnostic utility (AUC = 0.818, sens%=60.0, spec%=95.2). Significantly lower cytokine levels were observed in the DS group for IL-10 (p=0.006), IL-13 (p<0.01), and IL-22 (p=0.002). The highest diagnostic utility among the assessed cytokines was demonstrated for IL-5 (AUC = 0.814, sens%=71.10, spec%=88.1). Conclusion: The analyses conducted indicate significant differences between the studied groups of patients with Down syndrome and the control group. The presence of an additional copy of 21 the chromosome leads to changes in the immune system, influences the heterogeneous cytokine profile, and consequently may increase the development of metabolic disorders.

TÍTULO / TITLE: - Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome

REVISTA / JOURNAL: - J Hum Immun. 2026 Jul 15;2(5):e20260052.eCollection 2026 Sep 7. Free PMC article.

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/40568655/

AUTORES / AUTHORS: - Melissa Gans et al.

INSTITUCIÓN / INSTITUTION: - Jackson Health System, University of Miami Miller School of Medicine, Miami, FL, USA.

RESUMEN / SUMMARY: - Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by lifelong immune dysregulation leading to high rates of autoimmune disorders, elevated risk of complications from infections, immune hypersensitivity, and a unique form of immunodeficiency. It is now appreciated that DS shares key hallmarks with interferonopathies, with vast remodeling of all branches of the immune system, hypercytokinemia, and widespread autoantibody production. Here within, we review the existing literature with an emphasis on clinical considerations toward monitoring, management, and therapeutic opportunities. We highlight recent research advances that illuminate diagnostic approaches to evaluate immune dysregulation in DS. We also discuss the evidence supporting specific immunomodulatory strategies that could have multidimensional benefits in this population, including JAK inhibitors, intravenous immunoglobulin, and B cell-depleting agents.

TÍTULO / TITLE: - Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation

REVISTA / JOURNAL: - Front Immunol. 2026 Jun 3:17:1836558. doi: 10.3389/fimmu.2026.1836558.Free PMC article.

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AUTORES / AUTHORS: - Guangfu Wang et al.

INSTITUCIÓN / INSTITUTION: - Medical Genetic Institute of Henan Province, Henan Key Laboratory of Genetic Diseases and Functional Genomics, People s Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy 21, has long been viewed primarily as a neurodevelopmental disorder. However, increasing evidence indicates that it is also associated with pervasive immune dysregulation, including chronic inflammation and heightened susceptibility to autoimmunity. Here, we revisit DS from the perspective of innate immunity and suggest that it shares key features with interferon-driven, autoinflammation-like conditions. Drawing on recent multi-omics studies, we outline a mechanistic framework linking chromosome 21 gene dosage to systemic immune activation. Increased expression of interferon receptors lowers the threshold for signaling and drives persistent activation of interferon-stimulated genes (ISGs). In parallel, reduced METTL3-dependent m6A modification may stabilize pro-inflammatory transcripts and enhance innate immune sensing. These changes occur alongside chromatin accessibility remodeling enriched for AP-1-associated elements, consistent with a transcriptionally primed state that amplifies inflammatory gene expression. Together, these processes form a feed-forward network involving interferon signaling, transcriptional activation, and cytokine production, providing a basis for the basal inflammatory state in DS and its high burden of immune-mediated comorbidities. This framework also highlights potential therapeutic opportunities, including JAK-STAT inhibition and cytokine-targeted approaches, which may help restore immune homeostasis and inform future translational studies.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE: - A mathematical model of folate-mediated one-carbon metabolism in Down syndrome

REVISTA / JOURNAL: - NPJ Syst Biol Appl. 2026 Jun 26. doi: 10.1038/s41540-026-00760-w. Online ahead of print. Free artic

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AUTORES / AUTHORS: - Allison Piovesan et al.

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences (DIBINEM), Unit of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy.

RESUMEN / SUMMARY: - Down syndrome (DS), the most frequent human genetic disorder marked by an extra copy of chromosome 21 (Hsa21) or a portion thereof, leads to physical and cognitive impairments. Following the Lejeune work, researchers focused on a potential anomaly within the folate-mediated one-carbon metabolism (FOCM). Here, we present a FOCM model modified from a previous work with the incorporation of the enzyme cystathionine beta-synthase (CBS), whose encoding gene is located on Hsa21, coupled with the methionine input rate. Systematic perturbation of FOCM enzyme activity rates has been performed to explore possible in silico configurations to simulate the DS condition. The perturbed vs. unperturbed model-derived ratio concentrations of tetrahydrofolate, 5-formyl-tetrahydrofolate, 5-methyl-tetrahydrofolate, S-adenosyl-homocysteine, and S-adenosyl-methionine were compared with the known literature through various statistical approaches. After investigating public transcriptomic databases, the FTS (formate-tetrahydrofolate ligase) perturbation achieved the best overall score. Although the FTS encoding gene (MTHFD1) is not located on Hsa21, it was found to be overexpressed in the DS condition. In addition, an interesting correlation emerged with the PTG (phosphoribosylglycinamide formyltransferase) perturbation and the corresponding encoding gene (GART), located on Hsa21 and notably over-expressed in the DS condition. The model thus identifies key enzyme activities that warrant further investigation.

TÍTULO / TITLE: - Multiomics and proteomic insights into Alzheimers disease biology in Down syndrome

REVISTA / JOURNAL: - Expert Rev Neurother. 2026 Aug;26(8):745-763. doi: 10.1080/14737175.2026.2695187. Epub 2026 Jun 29.

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AUTORES / AUTHORS: - Mitchell Marta-Ariza, Thomas Wisniewski

INSTITUCIÓN / INSTITUTION: - Department of Neurology, NYU Grossman School of Medicine, New York, NY, US

RESUMEN / SUMMARY: - Introduction: Down syndrome (DS) confers a high risk of Alzheimers disease (AD) and is a genetically determined form of AD. As such, DS provides a uniquely informative biological context in which to investigate AD initiation and progression. Defining the molecular mechanisms that link trisomy 21 to neurodegeneration has broad implications for AD biology and neurotherapeutic development. Areas covered: This review summarizes findings from brain, cerebrospinal fluid, and blood-based proteomic studies, integrated with transcriptomic and multiomics analyses, to characterize molecular pathways underlying AD in DS. The literature was identified through iterative PubMed/MEDLINE searches and manual review of reference lists, considering studies available through June 2026 with no limitation to publication dates. Expert opinion: Brain, lesion-specific, cerebrospinal fluid, and blood-based proteomics, interpreted alongside transcriptomic and complementary omics data, position DSAD as a network-level disorder in which amyloid and tau pathology interact with immune, vascular, metabolic, synaptic, and proteostasis pathways. This integrated proteomic framework helps define shared and subtype-specific mechanisms across DSAD, sporadic AD, and autosomal dominant AD, while supporting biological staging, patient stratification, and therapeutic target discovery.

TÍTULO / TITLE: - Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jun 11. doi: 10.1111/jir.70125. Online ahead of print.

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AUTORES / AUTHORS: - Carolina Gast�lum Guerrero et al

INSTITUCIÓN / INSTITUTION: - Posgrado en Ciencias en Biomedicina Molecular, Facultad de Medicina, Universidad Autonoma de Sinaloa, Culiacan, Sinaloa, Mexico.

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) face a high burden of health complications, yet the molecular underpinnings remain incompletely defined. Objective: The objective of this study is to systematically identify metabolomic changes in individuals with DS and how they relate to DS-associated conditions. Methods: A scoping review of the literature was performed across four online databases to identify studies profiling metabolites in people with DS using untargeted or targeted metabolomics procedures. The findings were narratively synthesised to provide a comprehensive overview of patterns of convergence and variability across studies. Results: Thirty-four studies examining metabolites in individuals with DS were identified. The combined findings revealed widespread disruptions in energy (e.g., tricarboxylic acid cycle intermediates and acylcarnitines), one-carbon (e.g., methionine and the SAM/SAH axis), amino acid (e.g., tryptophan-kynurenine and glutamate/GABA) and lipid (e.g., phospholipids and sphingolipids) metabolism, along with changes in immune and neurotransmitter pathways. These metabolic alterations are associated with phenotypic variability and comorbidities in DS. However, the evidence reflects partially convergent and context-dependent patterns, with substantial variability across studies. Conclusion: Metabolic disturbances are common in DS, suggesting candidate metabolic signatures that still require independent replication and validation. Current evidence is predominantly cross-sectional and associative, limiting causal inference. Integrating metabolomics with multi-omics approaches may enhance the understanding of DS-related health issues and support future translation into clinical applications.

Neurobiology - Neurobiología

TÍTULO / TITLE: - Structural MRI across lifespan reveals differential thalamic trajectories in Down syndrome

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Jul;22(7):e71671. doi: 10.1002/alz.71671. Free PMC article.

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AUTORES / AUTHORS: - Muhammad Shaikh et al

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, University of Cambridge, Cambridge, Cambridgeshire, UK.

RESUMEN / SUMMARY: - Introduction: Up to 90% of Down syndrome (DS) patients develop Alzheimers disease (AD). Sleep disturbance, affecting over 75% of DS patients, is implicated in AD pathogenesis. The thalamus, central to sleep and arousal, shows early vulnerability in DS-related AD. Methods: Structural 3T MRI scans from 253 DS participants (119 males, mean age 43.0 ± 9.4 years) and 36 controls (30 males, mean age 43.1 ± 12.2 years) from the Alzheimers Biomarker Consortium-Down Syndrome (ABC-DS) study were analyzed, alongside neurodegenerative plasma biomarker assays (phosphorylated tau [pTau]181, pTau217, neurofilament light chain [NfL], amyloid beta [Aβ]40, Aβ42). Results: In DS, intracranial volume-adjusted thalamic volume declined with age (t = -2.589, p = 0.00987), approximating 2.5% loss per decade. This was linear, gray matter involution-independent, and heterogeneous across nuclei, correlating negatively with pTau and NfL. Controls exhibited no significant volumetric changes. Discussion: Anteromedial and posterior thalamic shrinkage in DS AD mirrors sporadic AD. Associations with neurodegenerative biomarkers support thalamic atrophy as a sensitive marker of DS-related AD progression.

TÍTULO / TITLE: - DYRK1A Signaling in the Brain: Molecular Mechanisms and Neurotransmitter Regulation

REVISTA / JOURNAL: - Curr Neurovasc Res. 2026 Jul 2. doi: 10.2174/0115672026453723260618053839. Online ahead of print.

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AUTORES / AUTHORS: - Sampriti Paul et al

INSTITUCIÓN / INSTITUTION: - College of Pharmaceutical Sciences, Dayananda Sagar University, Bengaluru South, 562112, India.

RESUMEN / SUMMARY: - Introduction: DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A) is a dosage-sensitive regulator of central nervous system development. Dysregulation contributes to major neurodevelopmental disorders, including Down Syndrome (DS), Autism Spectrum Disorder (ASD), and Intellectual Developmental Disorder (IDD). This review critically examines how DYRK1A dosage shapes neurodevelopment, neurotransmitter regulation, and disease phenotypes. Methods: We synthesized molecular, cellular, and systems-level evidence (2015-2025) from rodent DYRK1A mutant models, human iPSC-derived neural progenitors, and human transcriptomic datasets using comprehensive searches of PubMed, Google Scholar, and Web of Science. Studies were assessed for mechanistic rigor, species applicability, and translational potential. Results: Recent studies reveal that DYRK1A coordinates four neurodevelopmental processes: (1) neural progenitor proliferation/differentiation via cell cycle regulation (cyclin D1, p27Kip1, E2F2, NeuroD1); (2) chromatin remodeling through histone acetyltransferase phosphorylation (EP300, CREBBP); (3) glutamatergic synaptic transmission via presynaptic gene suppression (RIMS1, Munc13-1, Syn2), impairing NMDA-independent long-term potentiation; (4) glial differentiation and myelination. DYRK1A overexpression in DS disrupts neurogenesis and synaptic connectivity; haploinsufficiency causes microcephaly and intellectual disability. Species divergence between rodent and human iPSC models, combined with inter-individual variability, underscores the limitations of current mechanistic models. Discussion: DYRK1A functions as a dosage sensitive regulator orchestrating neurogenesis, chromatin remodeling, synaptic transmission, and glial maturation. Evidence from rodent and human iPSC models underscores mechanistic divergence and inter individual variability, complicating translational pathways. Therapeutic strategies, such as small molecule inhibitors, CRISPR Cas9, and an

TÍTULO / TITLE: - Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 induced pluripotent stem cell-derived neural cells

REVISTA / JOURNAL: - Dis Model Mech. 2026 Jun 1;19(6):dmm052740. doi: 10.1242/dmm.052740. Epub 2026 Jun 29. Free PMC art

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AUTORES / AUTHORS: - Nicole R West et al

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

RESUMEN / SUMMARY: - Dosage imbalance of dual specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A) is a feature of several neurodevelopmental and neurodegenerative diseases, including Down syndrome, DYRK1A syndrome, autism spectrum disorders, Alzheimers disease and Parkinson s disease. Thus, manipulating DYRK1A activity in the brain has emerged as a potential therapeutic target for neurological disorders. Several DYRK1A inhibitors have shown promise for improving cognition in rodent models of Down syndrome and Alzheimers disease, for example, but the ability of these inhibitors to affect DYRK1A levels or activity in relevant human cells has not been established. We filled this gap by testing the effects of a new DYRK1A inhibitor on trisomy 21 induced pluripotent stem cell (iPSC)-derived neural progenitor cells and neurons, in which DYRK1A expression and activity are increased. Our results demonstrated that Leucettinib-21, a potent and selective low-molecular-mass pharmacological inhibitor of DYRK1A, decreases DYRK1A activity in human trisomy 21 iPSC-derived neural progenitor cells and cortical neurons. Leucettinib-21 reduces DYRK1A activity in a relevant human disease model, supporting future human trials.

TÍTULO / TITLE: - Brain Structural and Dysmaturation Anomalies in First- and Second-Trimester Trisomy 21 Fetuses: Ultrasound, MRI, and Autopsy Findings

REVISTA / JOURNAL: - Fetal Pediatr Pathol. 2026 Jun 24:1-11. doi: 10.1080/15513815.2026.2690379. Online ahead of print.

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AUTORES / AUTHORS: - Maria Paola Bonasoni et al.

INSTITUCIÓN / INSTITUTION: - Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

RESUMEN / SUMMARY: - Fetuses with trisomy 21 typically exhibit subtle but measurable deviations in early brain growth rather than frequent major malformations. This review synthesizes first-second trimester data from ultrasound, fetal MRI, and autopsy studies to characterize early neurodevelopmental alterations in Down syndrome. Especially, in second trimester, neurosonography reveals mild reductions in head and cerebellar biometry, a characteristic "seagull" cerebral hemisphere configuration, and thinned subplate, while fetal MRI demonstrates global but regionally accentuated brain and cerebellar hypoplasia with relatively preserved gross architecture. Autopsy and microscopic analyses confirm reduced cellularity and delayed lamination in cortex, basal ganglia, and cerebellum, supporting a primary disturbance of neurogenesis rather than migration. Severe structural malformations and obstructive hydrocephalus are rare but documented. Current evidence underscores the prognostic potential-and limitations-of early neuroimaging, highlighting the need for standardized, prospective studies linking prenatal brain metrics with long-term neurodevelopmental outcomes.

TÍTULO / TITLE: - Aberrant chromatin remodeling influences human neural cell fate change in Trisomy 21

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Jun 2:2026.06.01.729170. doi: 10.64898/2026.06.01.729170. Free PMC article

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AUTORES / AUTHORS: - Jenny A Klein et al

INSTITUCIÓN / INSTITUTION: - Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge MA 02142, USA.

RESUMEN / SUMMARY: - Correct neural progenitor cell (NPC) fate specification is essential to produce the full complement of neurons and glia needed for proper brain structure and function. Neurodevelopmental disorders, including the autosomal aneuploidy Down syndrome (DS), or Trisomy 21 (T21), are frequently associated with impaired cell fate decisions which ultimately drive differences in overall brain size and cell type composition through unknown mechanisms. To uncover mechanisms driving altered NPC fate in T21, we leverage paired single-nuclei transcriptomic and epigenomic analyses of human induced pluripotent stem cell (iPSC)-derived NPCs and their differentiated progeny coupled with in depth clonal cell fate, cell cycle, and proteomic analyses. Here we show that T21 NPCs fail to activate an orchestrated neurogenic program during the earliest stages of fate specification, instead maintaining a repressive chromatin structure over neurogenic loci, leading to reduced neurogenesis and continued NPC proliferation. We identify novel enrichment of the repressive histone mark H3K27me3 at fate instructive genes dysregulated across diverse cell and tissue types in T21, with corresponding genome-wide changes in H3K27me3 binding in T21 NPCs. Moreover, pharmacological treatment with an inhibitor of the Polycomb repressive complex 2 (PRC2) which catalyzes H3K27 methylation, is sufficient to partially restore neurogenesis in T21 cells. Collectively, our analyses reveal a chromatin mechanism influencing neurogenic defects in T21.

TÍTULO / TITLE: - Adults with Down syndrome display altered entrainment of occipital cortical neurons

REVISTA / JOURNAL: - Brain Commun. 2026 Feb 6;8(1):fcag038. doi: 10.1093/braincomms/fcag038. eCol- 2026.Free PMC article

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AUTORES / AUTHORS: - Liana Chinen et al.

INSTITUCIÓN / INSTITUTION: - Institute for Human Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA.

RESUMEN / SUMMARY: - Down syndrome is commonly associated with a trisomy of chromosome 21 that often presents an accelerated aging profile and higher probability of developing Alzheimers disease-like symptoms at a relatively early age. However, the physiological changes that may contribute to such symptoms remain poorly understood. To begin to address this knowledge gap, we used magnetoencephalographic neurophysiological imaging to assess the entrainment of occipital cortical neurons to a 15 Hz visual stimulus in a cohort of adults with DS without a dementia diagnosis (N = 26; Age = 27.65 ± 9.55 years) and a demographically matched cohort of neurotypical controls (N = 22; Age = 30.81 ± 8.02 years). Our results indicated that adults with Down syndrome exhibit substantially weaker entrainment of the occipital cortical neurons and elevated spontaneous activity during the prestimulation baseline period compared with the controls. These results suggest that there are alterations in the integrity of occipital neural populations that may be attributable to an imbalance in local GABAergic activity and/or disruption in cholinergic pathways. These changes may affect the strength of resting cortical rhythms, leading to the elevated spontaneous activity observed here, which has been linked to reductions in the dynamic range of neural populations and impairments in perceptual and cognitive processing. These novel results advance our understanding of the occipital cortical physiology seen in adults with Down syndrome and provide foundational knowledge for the development of biomarkers for the early detection of accelerated aging and cognitive decline in those with Down syndrome.

Neurology - Neurología

TÍTULO / TITLE: - Delayed Recognition and Stroke-Predominant Presentation in Down Syndrome-Associated Moyamoya Syndrome

REVISTA / JOURNAL: - Stroke. 2026 Jul 24:10.1161/STROKEAHA.126.056969. doi: 10.1161/STROKEAHA.126.056969.Free PMC articl

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AUTORES / AUTHORS: - Jonathan D Santoro et al.

INSTITUCIÓN / INSTITUTION: - Division of Neurology, Department of Pediatrics, Children s Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).

RESUMEN / SUMMARY: - Background: Children with Down syndrome (DS) are at high risk for moyamoya syndrome (MMS) and ischemic stroke, yet early detection strategies remain poorly defined despite the condition being surgically treatable. Methods: We conducted a multicenter retrospective cohort study comparing children with Down syndrome-associated moyamoya syndrome (DS-MMS) and MMS without DS (MMS). The primary outcome was stroke as the primary presenting symptom. Secondary outcomes included diagnostic delays, angiographic features, prediagnostic systolic blood pressure percentiles, and 1-year neurological outcomes. Multivariable models adjusted for demographic and access-related covariates. Results: In total, 271 patients were identified; 198 (73.1%) met inclusion criteria and comprised the analytic cohort. Among 198 patients (77 DS-MMS; 121 MMS), DS-MMS mean age was 9.5±5.2 years (50.6% female), and MMS mean age was 7.4±3.0 years (54.5% female). Stroke at presentation was more common in DS-MMS (71.4% versus 20.7%; absolute difference, 50.7%), corresponding to an adjusted odds ratio of 14.50 ([95% CI, 6.65-31.60]; P<0.001). Children with DS-MMS experienced longer delays from symptom onset to presentation and from presentation to diagnostic confirmation (both P<0.001). Posterior circulation involvement was more frequent in DS-MMS (adjusted odds ratio, 2.18 [95% CI, 1.09-4.37]; P=0.03), whereas angiographic severity was similar between groups. In the prediagnostic period, DS-MMS demonstrated a progressive rise in systolic blood pressure percentiles, exceeding the MMS cohort by 6 months (P<0.001). At 1 year, DS-MMS was associated with greater disability (adjusted odds ratio, 2.58 [95% CI, 1.45-4.57]; P<0.001) and spasticity (adjusted odds ratio, 6.33 [95% CI, 3.12-12.83]; P<0.001). Conclusions: DS-MMS represents a high-risk cerebrovascular phenotype characterized by delayed recognition and a markedly increased likelihood of stroke at presentation. Rising blood pressure percentiles preceding

Orthopedics - Ortopedía

TÍTULO / TITLE: - Although Down syndrome can be complicated by atlantoaxial subluxation with hemiparesis, alternative causes must be considered and ruled out

REVISTA / JOURNAL: - Sudan J Paediatr. 2026;26(1):94-95. doi: 10.24911/SJP.106-1770308644. Free PMC article.

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AUTORES / AUTHORS: - Sounira Mehri, Josef Finsterer

INSTITUCIÓN / INSTITUTION: - Laboratory of Nutrition - Functional Food and Health Faculty of Medicine, University of Monastir, Monastir, Tunisia.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Patellofemoral Instability in Children with Down Syndrome

REVISTA / JOURNAL: - J Pediatr Soc North Am. 2026 Jun 20:16:100409. doi: 10.1016/j.jposna.2026.100409. eCollection 2026

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AUTORES / AUTHORS: - Robert G Yoder et al

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedic Surgery, Cleveland Clinic Akron General, Akron, OH, USA.

RESUMEN / SUMMARY: - The incidence of patellofemoral instability (PFI) in patients with Down syndrome (DS) is 10% to 20%. Treatment of PFI in this cohort has evolved over the past four decades. Nonoperative management largely prevails today; however symptomatic patients with DS and recurrent instability may benefit from patellar stabilization surgery. Combined, physeal-sparing soft tissue procedures have become the focus of modern-day surgeons when operative intervention is pursued in skeletally immature patients. This review article outlines the seldom-discussed topic of PFI in patients with DS and highlights the need for high-quality, outcome-based research on the optimal management in this specific cohort.

Physiotherapy/Exercise – Fisioterapia/Ejercicio

TÍTULO / TITLE: - Parents Experiences and Expectations From Physiotherapy for Children With Down Syndrome: A Scoping Review

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jun;70(6):579-587. doi: 10.1111/jir.70088. Epub 2026 Feb 16.

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AUTORES / AUTHORS: - Fathimath Akhila, Asir John Samuel

INSTITUCIÓN / INSTITUTION: - Yenepoya Physiotherapy College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India

RESUMEN / SUMMARY: - Background: Physiotherapy plays a vital role in the care and development of children with Down syndrome (CDS), especially in addressing related health issues. Understanding caregivers perspectives on physiotherapy for CDS is essential for enhancing service delivery. This scoping review aims to synthesize research on parental experiences and expectations concerning physiotherapy for CDS. Method: Scoping review methodology follows the recommendations of Arksey and O Malley and the steps described by the Joanna Briggs Institute. A comprehensive search strategy was employed across four electronic databases: PubMed, Scopus, Web of Science and CINAHL, as well as relevant grey literature sources. Results: Out of the 97 studies screened, five met the inclusion criteria and were included in the review. Parents widely viewed physiotherapy as essential for their child s development, reporting benefits in motor skills, confidence and independence. However, they also faced challenges such as limited access, emotional strain and service dissatisfaction. Conclusions: This review enhances our understanding of the experiences and expectations of parents concerning physiotherapy for children with Down syndrome. It identifies important areas where future research and clinical practice can improve developmental outcomes and the quality of life for CDS.

TÍTULO / TITLE: - Up and down: analyzing physical activity and posture with wearable sensors during partial bodyweight supported play for young children with down syndrome

REVISTA / JOURNAL: - Dev Neurorehabil. 2026 Aug 1:1-10. doi: 10.1080/17518423.2026.2711427. Online ahead of print.

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AUTORES / AUTHORS: - Mia E Hoffma et al.

INSTITUCIÓN / INSTITUTION: - Department of Mechanical Engineering, University of Washington, Seattle, WA, USA.

RESUMEN / SUMMARY: - Background and objective: Children with Down syndrome experience delays in motor development. Open-area partial bodyweight support (PBWS) systems can help support motor development, but no study has objectively reported motor behavior changes, such as increased leg activity or time spent upright. This study quantified changes in physical activity and posture during exploratory play with a PBWS system for pre-ambulatory children with Down syndrome. We hypothesized that PBWS would increase both physical activity levels and upright posture duration. Methods: This randomized, multisite crossover trial included children with Down syndrome who could sit independently but were not yet walking. Each child completed nine 30-minute play-based sessions with and without PBWS. Physical activity and posture were measured using shank-worn accelerometers, capturing the percentage of time spent in high physical activity and upright. Nonparametric Mann-Whitney U tests compared outcome measures between PBWS and non-PBWS conditions. Results: Fifteen children (mean age: 19.4 months, range: 12-31 months) completed study procedures. Across all participants, high physical activity did not noticeably increase from the first to last session. The median change was -5.0% (IQR: -13.4- +9.05%) with PBWS and -2.53% (IQR: -13.7- +12.9%) without PBWS. Time spent on feet showed a median increase of +2.38% with PBWS (IQR: -0.96 - +12.24) and a decrease of -1.08% without PBWS (IQR: -7.70 - + 1.02%). A statistically significant difference between conditions (p = .042) indicated greater improvements in time on feet during PBWS sessions versus without. Discussion: PBWS did not increase time spent in high physical activity, but did support increased upright posture over time. These findings suggest PBWS systems may provide a supportive environment for practicing upright postures in early motor development for children with Down syndrome. Longer interventions may be needed to evaluate the full impact of PB

TÍTULO / TITLE: - The impact of a 12-month randomized exercise intervention on cognitive function and brain volume in adults with down syndrome

REVISTA / JOURNAL: - Disabil Health J. 2026 Jul 30:102134. doi: 10.1016/j.dhjo.2026.102134.Free article

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AUTORES / AUTHORS: - Lauren T Ptomey et al

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, The University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS, 66160, USA.

RESUMEN / SUMMARY: - Background: Adults with Down syndrome (DS) have a high risk for Alzheimers disease (AD). While exercise improves cognition and brain health in the general population, few long-term studies have evaluated its effects in DS. Objective: We examined the impact of a 12-month remotely delivered exercise program on cognitive function and brain volume in adults with DS. Methods: 81 adults with DS (mean age = 27 years) were randomized to high-frequency remote exercise (3 sessions/week, RH), low-frequency remote exercise (1 session/week, RL), or a support and education control (SE). Cognitive function was assessed using the DS-adapted Cambridge Neuropsychological Test Automated Battery (CANTAB), and brain volumes were measured via MRI at baseline and 12 months. Results: There were no significant changes in any group in executive function or episodic memory (all p > 0.05), but the RH arm significantly improved processing speed across the 12-month intervention (EMM change: 0.17; p = 0.04). No between-group differences were observed for changes in overall cognitive scores. The RL group showed a decrease in total grey matter volume (EMM change -0.82; p = 0.02) and the RH group had no change (EMM change: 0.08; p = 0.72), yielding a significant group effect across time (EMM: 0.90; p = 0.04). Additionally, the RH arm had an increase in right hippocampal volume over 12 months (EMM change: 0.004; p = 0.04). Conclusion: The improvements in reaction time, right hippocampal volume, and grey matter preservation suggest that structured exercise may influence cognition and brain health in adults with DS.

TÍTULO / TITLE: - Aquatic Exercise as a Complementary Intervention for Cognitive, Behavioral, Motor, and Functional Outcomes in Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Down Syndrome: A N

REVISTA / JOURNAL: - J Clin Med. 2026 Jul 8;15(14):5334. doi: 10.3390/jcm15145334. Free PMC article.

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AUTORES / AUTHORS: - Felipe Montalva-Valenzuela et al.

INSTITUCIÓN / INSTITUTION: - Escuela de Entrenador en Actividad Física y Deporte, Facultad de Ciencias Humanas, Universidad Bernardo O Higgins, Santiago 8370040, Chile.

RESUMEN / SUMMARY: - Background: Neurodevelopmental disorders such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Down syndrome (DS) are associated with cognitive, behavioral, motor, and functional impairments that may negatively affect daily functioning and quality of life. Aquatic exercise has emerged as a potential complementary intervention due to its unique physical and sensory characteristics. Objective: To analyze the available evidence regarding aquatic exercise as a complementary intervention for individuals with ADHD, ASD, and DS, considering its potential effects on cognitive, behavioral, motor, and functional outcomes. Methods: A narrative review was conducted using studies identified in PubMed, Scopus, and Web of Science between November 2025 and February 2026. Experimental and quasi-experimental designs, including case studies, evaluating aquatic exercise interventions in individuals with ADHD, ASD, or DS were included. Results: Twenty-two studies were analyzed (ADHD = 7, ASD = 10, DS = 5). In ADHD, aquatic exercise was associated with improvements in inhibitory control, attention, cognitive flexibility, behavioral regulation, academic performance, and cardiorespiratory fitness. In ASD, the main benefits included improvements in balance, motor coordination, aquatic skills, social interaction, communication, adaptive behavior, and behavioral regulation, particularly in Halliwick-based interventions. In DS, positive effects were mainly observed in aerobic capacity, muscular strength, body composition, balance, functional physical fitness, and motor autonomy. Across studies, interventions commonly involved 2-3 weekly sessions lasting 30-90 min over 6-36 weeks. Conclusions: Aquatic exercise appears to be a promising complementary intervention for individuals with ADHD, ASD, and DS, with potential benefits across cognitive, behavioral, motor, and functional domains. Although the available evidence is heterogeneous and methodological limi

TÍTULO / TITLE: - Understanding Physical Activity Demands and Reported Perceptions of Fatigue in Children with Developmental Disabilities

REVISTA / JOURNAL: - Behav Sci (Basel). 2026 Jun 9;16(6):945. doi: 10.3390/bs16060945. Free PMC article.

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AUTORES / AUTHORS: - Kavya Iyer et al

INSTITUCIÓN / INSTITUTION: - Graduate Program in Translational Biology, Medicine, and Health, Virginia Tech, Blacksburg, VA 24060, USA.

RESUMEN / SUMMARY: - Children with developmental disabilities are less physically active and at increased risk for chronic conditions that physical activity might ameliorate. This study examined the relationships between the impact of physical activity (e.g., muscles burning, body tiredness), physical activity time and fatigue in children with Cerebral Palsy (CP) and Down Syndrome (DS) in comparison to typically developing (TD) children. A convenience sample of children and parents was enrolled. All children were between 4 and 10 years, ambulatory, medically stable, not taking sleep-aid medications and were either TD (n = 20) or diagnosed with CP (n = 14) or DS (n = 5). Children and parents separately answered questionnaires about participation in physical activity and fatigue during the past week, yielding retrospective data. Additionally, they completed prospective questionnaires for 3 consecutive days. Repeated measures multivariate and univariate analyses (post hoc) of variance, along with correlations between variables were completed. Analyses of retrospective data yielded no specific findings. Prospectively, all groups of parents reported that as the impact of physical activity increased, perceptions of fatigue decreased (r = -0.349; p < 0.001). Parents of children with Cerebral Palsy noted a negative relationship between the time spent doing physical activity and perceptions of fatigue (r = -0.553; p < 0.001). Between-group differences in perceptions of fatigue occurred for children with CP compared to TD (F = 8.248; p < 0.001). Parent-reported findings suggest potential associations between physical activity participation and perceptions of fatigue across diagnostic groups.

TÍTULO / TITLE: - Contemporary physiotherapy interventions for balance rehabilitation in children with Down syndrome: a systematic review of randomized controlled trials

REVISTA / JOURNAL: - Eur J Pediatr. 2026 Jul 27;185(8):615. doi: 10.1007/s00431-026-07255-0. Free PMC article.

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AUTORES / AUTHORS: - Dimitra Kanopoulou et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Human Performance & Rehabilitation Laboratory, School of Health Sciences, University of Thessaly, 3Rd Km Old National Road Lamia-Athens, 35100, Lamia, Greece.

RESUMEN / SUMMARY: - Children with Down syndrome commonly present with impaired balance and postural control due to musculoskeletal, sensory, and neuromotor deficits, which may negatively affect functional mobility and participation in daily activities. Over the last decade, a variety of contemporary physiotherapy interventions have been investigated to improve balance in this population. The aim of this systematic review was to synthesize evidence from randomized controlled trials evaluating physiotherapy interventions targeting balance rehabilitation in children with Down syndrome. A systematic search was conducted in PubMed and Scopus for studies published between 2015 and 2025. Randomized controlled trials investigating physiotherapy-related interventions targeting balance in children and adolescents with Down syndrome were included. Two independent reviewers performed study selection and data extraction. Methodological quality was assessed using the Physiotherapy Evidence Database (PEDro) scale. A total of 14 randomized controlled trials involving 462 participants were included. The included interventions comprised isokinetic training, trampoline-based plyometric exercise, Pilates, dual-task exercise, hippotherapy, whole-body vibration, foot muscle strengthening, swimming programs, kinesiotaping, and vestibular stimulation. Improvements in balance-related outcomes were observed across a broad range of physiotherapy interventions, particularly when approaches were combined with conventional physiotherapy programs. Conclusion: Contemporary physiotherapy interventions appear to be associated with improvements in balance-related outcomes in children with Down syndrome. The findings of this review support the integration of technology-assisted and task-oriented rehabilitation approaches into pediatric physiotherapy practice. However, the overall methodological quality of the included studies ranged from fair to high, and further large-scale, high-quality RCTs with long-term follow-up ar

TÍTULO / TITLE: - Gait adaptation in adults with intellectual disability with and without Down syndrome: A Kinect-based neural network approach

REVISTA / JOURNAL: - Technol Health Care. 2026 Jul 14:9287329261468631. doi: 10.1177/09287329261468631.

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AUTORES / AUTHORS: - Mehmet U�ar et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Services and Techniques, Varto Vocational School, Muş Alparslan University, Muş, Turkey.

RESUMEN / SUMMARY: - BackgroundRecognizing that walking is a critical marker of independence, fall risk, and overall health in adults with intellectual disability (ID) and that comparative evidence by Down syndrome (DS) status remains limited, this study aimed to quantify spatial, temporal, and kinematic gait differences across flat and compliant surfaces in adults with and without DS and to evaluate the classification performance of Kinect-derived gait data using artificial neural networks (ANNs).MethodsCross-sectional, exploratory study at a state special education center in eastern Tunrkiye. Sixty-nine participants aged 18-27 years (ID without DS: n = 46; ID with DS: n = 23; mild-moderate levels) completed three 3-m trials at preferred speed on flat (concrete) and compliant (foam) surfaces. Kinect V1 recorded 3D joint trajectories. Step count, step length, step duration, and walking speed were computed via a threshold-based method. ANN models were trained to classify by DS status, gender, and disability level/age.ResultsOn compliant surfaces, step count and walking time increased while walking speed decreased relative to flat surfaces. Performance decrements were more pronounced in participants with DS and those with moderate ID. Women took more steps and walked more slowly than men on both surfaces. ANN models showed high correlation values across tasks (R = 0.96-0.99); however, these findings should be interpreted as exploratory. Conclusion A Kinect-based approach may provide a practical and accessible method for characterizing gait in adults with ID with and without DS; however, the findings should be interpreted with caution due to methodological limitations and the need for further validation. Findings support integrating surface-specific balance and gait training, age- and gender-sensitive strategies, and individualized programs for DS. ANN-based analyses may provide preliminary insights for classification purposes; however, their clinical applicability requires further validat

TÍTULO / TITLE: - The effect of dual-task on postural control and gait in individuals with Down syndrome: a systematic review

REVISTA / JOURNAL: - Front Neurol. 2026 Jun 11:17:1858461. doi: 10.3389/fneur.2026.1858461. . Free PMC article.

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AUTORES / AUTHORS: - Gunlsunm Kargı et al

INSTITUCIÓN / INSTITUTION: - Department of Recreation Management, Faculty of Tourism, Selcuk University, Konya, Tunrkiye

RESUMEN / SUMMARY: - Background and aims: Individuals with Down syndrome (DS) exhibit deficits in postural control (PC) and gait. Dual-task (DT) paradigms, which involve performing concurrent cognitive or motor tasks, may exacerbate these deficits or, conversely, serve as effective interventions. Objective: This systematic review synthesizes evidence on how DT conditions affect PC and gait in individuals with DS, examining both acute effects and long-term training outcomes. Methods: PubMed, Web of Science, and Scopus were searched from inception to February 2025. Included studies examined DT effects on PC or gait in DS populations. Risk of bias was assessed using ROBINS-I (non-randomized studies; non-RCTs) and RoB-2 (randomized controlled trials; RCTs). Due to heterogeneity in the outcome measures, a narrative synthesis following SWiM guidelines was conducted. Results: Ten studies [363 participants; mean age 13.66 ± 2.53 years; eight non-RCTs (including six with control groups) and two RCTs] met inclusion criteria. Eight studies examining acute DT effects demonstrated that concurrent cognitive or motor tasks significantly impaired gait parameters (reduced velocity, increased step time, prolonged double support phase) and increased postural sway in individuals with DS compared to single-task conditions. These deficits were observed across various DT paradigms, including counting, word generation, and object manipulation. Conversely, two long-term DT intervention studies (8 weeks) reported significant improvements in dynamic balance, functional independence, and DT performance. IQ scores, reported in six studies (mean range: 26.97-66.60), correlated positively with gait speed and step length. Risk of bias was moderate in seven studies, low in two, and raised some concerns in one. Conclusion: Acute DT conditions compromise PC and gait in individuals with DS, reflecting attention resource limitations. However, preliminary evidence suggests that DT training may improve long-term functional

TÍTULO / TITLE: - Developmental Trajectories of Locomotor Skills in Infants With Down Syndrome

REVISTA / JOURNAL: - Pediatr Phys Ther. 2026 Jul 1;38(3):348-355. doi: 10.1097/PEP.0000000000001302. Epub 2026 Jul 6.

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AUTORES / AUTHORS: - Ellen N Sutter et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Sargent College of Health & Rehabilitation Sciences, Boston University, Boston, Massachusetts (Drs Sutter, Collimore-Doherty, Wilkerson, and Iverson); and Department of Pediatrics, Anna and John J. Sie Cente

RESUMEN / SUMMARY: - Purpose: Independent locomotion has cascading impacts on overall infant development. Although infants with Down syndrome (DS) attain locomotor milestones later, it is unknown how they use emerging skills (e.g., creeping and walking) in everyday play. Methods: This longitudinal observational study used behavioral coding to investigate locomotion quantity and type during play in infants with DS (n = 13), and changes with the acquisition of new motor skills. The amount of time locomoting was compared with 25 typically developing infants.Results: Infants with DS spent less time locomoting than typically developing infants, and their locomotion time changed less with age and motor skill level. Infants with DS also continued to rely on floor mobility skills even after attaining upright locomotor skills. Conclusions: Detailed behavioral coding identified differences in real-world locomotion used by infants with DS with potential implications for motor skill learning and development.

TÍTULO / TITLE: - Some Biomechanical and Anthropmetric Differences Between Elite Swimmers with Down Syndrome and Intellectual Disabilities

REVISTA / JOURNAL: - Sports (Basel). 2026 Jan 6;14(1):28. doi: 10.3390/sports14010028. Free PMC article.

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AUTORES / AUTHORS: - Ana Querido et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - The purpose was to characterize and compare biomechanical and coordinative parameters at maximum velocity between swimmers with Down syndrome and intellectual disabilities and examine these in relation to their anthropometrics. Nine swimmers (four with Down syndrome and five with intellectual disabilities) performed three bouts of 25 m crawl stroke, each at maximum velocity, which were recorded with the Qualysis motion analysis system. Anthropometric variables, BMI, and percentage of body fat were also assessed. Swimmers with Down syndrome presented a smaller height, acromion height, sitting height, arm span, hand length, hand width, foot length, foot width, and velocity than swimmers with intellectual disabilities. Swimmers with Down syndrome have disadvantageous anthropometrics and slower swimming velocities compared to swimmers with intellectual disabilities. Those swimmers also appear to present distinctive coordination (catch-up for Down syndrome and superposition for intellectual disabilities) and intracyclic velocity variation (Down syndrome presented higher values) compared to swimmers with intellectual disabilities, suggesting a lower swimming efficiency.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE: - "It s an Uphill Battle. We Have a Long Way to Go": Perspectives of Canadian Individuals Living with Genetic Conditions Detectable by Prenatal Cell-Fr

REVISTA / JOURNAL: - AJOB Empir Bioeth. 2026 Apr-Jun;17(2):120-128. doi: 10.1080/23294515.2026.2691708. Epub 2026 Jun 24

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AUTORES / AUTHORS: - Mathilde Cassou et al.

INSTITUCIÓN / INSTITUTION: - School of Public Health, University of Montreal, Montreal, Canada

RESUMEN / SUMMARY: - Background: In Canada, prenatal cell-free DNA screening is mainly used as a second-tier screening test that targets specific aneuploidies, namely trisomy 21, 18 and 13. Methods: Within the PEGASUS-2 study, we conducted in-depth interviews with 11 individuals living with a genetic condition currently or potentially detectable by this screening method, to explore their opinions regarding its potential implementation as a first-tier test, and the expansion of its scope. Results: Qualitative analysis revealed that, although some individuals appreciated an early result with the test, they generally considered prenatal screening to be a predetermined route to termination of pregnancy. Participants felt that this social expectation reflects negative attitudes toward people who are genetically different. They feared that a more accessible and expanded test would accentuate the slippery slope toward eugenic tendencies in society. Thus, broadening its scope could be beneficial only in the case of conditions deemed severe on the basis of viability and quality of life criteria. While parents of children living with Down syndrome were reluctant to support screening, based on their challenging but rewarding experiences, people living with sex chromosome anomalies (SCAs) were supportive of its use to detect SCAs, to enable better prenatal preparation. All felt that screening should be accompanied by better, balanced, and more transparent information, to ensure it is a tool that promotes reproductive autonomy. Additional findings include a recurring comparison between Down syndrome and autism spectrum disorder regarding the future provision of prenatal screening, the use of "battle" metaphors to describe the prenatal journey, and reflections on the role of adoption as an alternative to termination. Conclusion: These perspectives, informed by lived experiences, should inform recommendations on the implementation of prenatal screening in Canada.

TÍTULO / TITLE: - Allele-counting based non-invasive prenatal paternity testing for trisomy 21 fetuses:Methodology and case-based evaluation

REVISTA / JOURNAL: - Leg Med (Tokyo). 2026 Jul 10:85:102928. doi: 10.1016/j.legalmed.2026.102928. Online ahead of print.

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AUTORES / AUTHORS: - Guosong Shen et al

INSTITUCIÓN / INSTITUTION: - Medical Laboratory Center, Huzhou Maternity & Child Health Care Hospital, Huzhou, Zhejiang Province 313000, China

RESUMEN / SUMMARY: - Prenatal paternity testing in fetuses with chromosomal aneuploidy poses interpretative challenges for traditional short tandem repeat (STR) analysis, whereas non-invasive SNP-based approaches may offer advantages. This study compared STR and non-invasive SNP testing for paternity determination in two fetuses with Down syndrome (trisomy 21). Amniotic fluid and parental peripheral blood samples were collected. STR typing was performed using the STRtyper-21G system. Non-invasive prenatal paternity testing (NIPPT) was conducted on maternal plasma cell-free fetal DNA using a custom capture panel of 5180 autosomal SNPs, followed by high-throughput sequencing and statistical analysis with the Prenatal Paternity Test Analysis System (PTAS). STR profiling revealed tri-allelic patterns and allelic dosage imbalance at chromosome 21 loci D21S11 and Penta D, forcing manual exclusion of these two loci for Combined Paternity Index (CPI) calculation. This reduced the final CPI by 2-fold (Case 1) and 21-fold (Case 2), yielding CPIs of 3.2 × 109 and 5.7 ×10(Gao et al., 2023 [10]). In contrast, NIPPT produced CPIs of 2.40 × 10183 and 7.18 × 10154 with Cumulative Probability of Exclusion >99.999999% for both cases, requiring no adjustment for aneuploidy. SNP numbers and distribution were consistent between trisomy 21 and euploid controls. These findings demonstrate that while STR analysis is significantly confounded by chromosomal copy number variation in trisomy 21 pregnancies, SNP-based NIPPT - relying on allele counting, genome-wide locus redundancy, and a cumulative statistical model - provides robust, objective, and highly reliable paternity evidence without requiring exclusion of aneuploid loci. This approach represents a superior alternative for prenatal paternity testing in the context of fetal chromosomal aneuploidy.

Psychiatry - Psiquiatría

TÍTULO / TITLE: - Psychosocial stressors prior to Down Syndrome Regression Disorder: findings from two referral clinics

REVISTA / JOURNAL: - Front Psychiatry. 2026 Jul 7:17:1799799. doi: 10.3389/fpsyt.2026.1799799. eCollection 2026. Free P

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AUTORES / AUTHORS: - Mar�a Del Carmen Ortega et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry and Clinical Psychology, Clinica Universidad de Navarra, Madrid, Spain.

RESUMEN / SUMMARY: - Objective: To examine the prevalence, categories, and timing of psychosocial stressors preceding Down Syndrome Regression Disorder (DSRD) onset, and to characterize the clinical presentation in a cohort of adolescents and adults evaluated at two specialized referral clinics. Methods: We conducted a retrospective cohort study including all individuals diagnosed with DSRD between 2021 and 2024. Psychosocial stressors occurring ≤ 6 months before symptom onset were identified using a standardized coding matrix and independently rated by two blinded coders. Sociodemographic, clinical, and functional severity variables were summarized using descriptive statistics and exact 95% confidence intervals. Results: At least one adverse psychosocial stressor was identified in 91% of the cohort (31/34; 95% CI 76-98). The most frequent categories were bereavement or illness of a close person (35%; 95% CI 20-54) and separation or displacement of a significant figure (32%; 95% CI 17-51). Social withdrawal (100%; 95% CI 90-100), psychomotor slowing (97%; 95% CI 85-100), and loss of previously acquired abilities (94%; 95% CI 80-99) were the most common symptoms at initial assessment.

TÍTULO / TITLE: - Immunosuppression in down syndrome regression disorder: a prospective observational cohort study

REVISTA / JOURNAL: - Brain Commun. 2026 Jun 2;8(3):fcag203. doi: 10.1093/braincomms/fcag203. eCollection 2026. Free PMC

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AUTORES / AUTHORS: - Jonathan D Santoro et al.

INSTITUCIÓN / INSTITUTION: - Division of Neurology, Department of Pediatrics, Children s Hospital Los Angeles, Los Angeles, CA 90027, USA.

RESUMEN / SUMMARY: - Down syndrome regression disorder is a severe neuropsychiatric condition for which intravenous immunoglobulin offers partial benefit in many cases. The efficacy of second-line immunosuppressive therapies in those with partial responses to intravenous immunoglobulin (IVIg) remains unclear. This study sought to evaluate the comparative efficacy of B-cell depletion, Janus kinase inhibition, and mycophenolate mofetil as second-line immunosuppressive therapies in individuals with Down syndrome regression disorder. This multicenter, prospective observational cohort study included 126 individuals with Down syndrome regression disorder. Participants were aged 10-30 years and had demonstrated >50% improvement following IVIg on either the Bush-Francis Catatonia Rating Scale or the Neuropsychiatric Inventory Questionnaire, followed by second-line immunosuppression with one of three agents. Participants received B-cell depletion (rituximab or biosimilar; n = 63), Janus kinase inhibitors (tofacitinib or baricitinib; n = 34), or mycophenolate mofetil (n = 29). Treatments were assigned as part of clinical care and not randomized. The primary outcomes were change scores (Δ) on the Bush-Francis Catatonia Rating Scale and the Neuropsychiatric Inventory Questionnaire following immunosuppression. Secondary outcomes included treatment-emergent adverse event rates. All therapies produced symptomatic improvement; however, mean Δ Bush-Francis Catatonia Rating Scale and Δ Neuropsychiatric Inventory Questionnaire scores were greatest with B-cell depletion (mean [standard deviation] Δ Bush-Francis Catatonia Rating Scale: -9.6 [4.1]; Δ Neuropsychiatric Inventory Questionnaire: -16.5 [6.1]) compared with Janus kinase inhibition (Δ Bush-Francis Catatonia Rating Scale: -6.3 [5.0]; Δ Neuropsychiatric Inventory Questionnaire: -12.0 [7.2]) and mycophenolate mofetil (Δ Bush-Francis Catatonia Rating Scale: -3.0 [4.3]; Δ Neuropsychiatric Inventory Questionna

TÍTULO / TITLE: - Alexithymia in neurodevelopmental populations: a scoping review of Down syndrome, autism spectrum disorder, and dual diagnosis

REVISTA / JOURNAL: - Front Psychol. 2026 Jun 5:17:1705694. doi: 10.3389/fpsyg.2026.1705694.Free PMC article.

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AUTORES / AUTHORS: - Nasr Chalghaf et al.

INSTITUCIÓN / INSTITUTION: - Department of Education, High Institute of Sport, and Physical Education of Gafsa, University of Gafsa, Gafsa, Tunisia

RESUMEN / SUMMARY: - Background: Alexithymia, characterized by difficulties in identifying and describing emotions, affects ~10% of the general population. Prevalence is substantially higher in individuals with neurodevelopmental disorders. Objective: To systematically map existing research on alexithymia across Down syndrome, autism spectrum disorder, and dual diagnosis populations, synthesize current knowledge, and identify critical research gaps informing future investigation priorities. Methods: Following Arksey and O Malley s framework and PRISMA-ScR guidelines, searches were conducted across MEDLINE, PsycINFO, EMBASE, CINAHL, and Cochrane databases from inception to December 2024. Studies examining alexithymia, emotional processing, or emotional awareness in DS, ASD, or DS-ASD populations underwent selection and narrative synthesis employing thematic analysis. Results: Database searches yielded 2,847 records, of which 55 studies met inclusion criteria spanning 1994-2024. Literature demonstrates research imbalances, with extensive evidence on ASD contrasted with minimal investigation on DS and the absence of research on dual diagnoses. Six major themes emerged: prevalence disparities with ASD populations showing 49.9% weighted mean prevalence vs. unestablished DS rates; assessment limitations with current tools lacking intellectual disability validation; intervention approaches demonstrating moderate effectiveness (d = 0.65) in limited populations; neurobiological correlates implicating emotion processing networks; developmental trajectory gaps across the lifespan; and clinical implications for therapeutic engagement and quality of life. Seven research gaps were identified, including the absence of validated assessment tools for populations with intellectual disabilities and the lack of longitudinal developmental studies. Conclusion: Current evidence reveals research imbalances with extensive ASD literature contrasting with the absence of DS research, limiting understanding and ev

Quality of life - Calidad de vida

TÍTULO / TITLE: - Adaptation of the Direct Assessment of Functional Status (DAFS): a new tool to assess functional changes in people with Down syndrome

REVISTA / JOURNAL: - Dement Neuropsychol. 2026 Jul 17:20:e20250415. doi: 10.1590/1980-5764-DN-2025-0415.Free PMC article

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AUTORES / AUTHORS: - Alexandra Martini de Oliveira et al.

INSTITUCIÓN / INSTITUTION: - Universidade de Sao Paulo, Faculdade de Medicina, Hospital das Clinicas, Departamento e Instituto de Psiquiatria, Laborat orio de Neurociencias, LIM27 - Sao Paulo SP, Brazil

RESUMEN / SUMMARY: - Functional decline in activities of daily living (ADL) is considered a marker of ageing and Alzheimers disease. However, there is a lack of performance-based instruments specifically designed to assess ADL in adults and older adults with Down syndrome. Objective: To describe the adaptation process of the Direct Assessment of Functional Status (DAFS) to assess the functional capacity of adults with Down syndrome. Methods: The Direct Assessment of Functional Status-Brazilian Version (DAFS-BR) was administered to 15 adults with Down syndrome (nine men and six women) who were divided into two diagnostic groups: stable cognition and suspected dementia or cognitive impairment. The process was conducted in two phases: phase one was characterized by an adaptation in the tasks. In phase two, (cultural and semantic) equivalences were verified, as well as structural aspects, including layout and instructions. This phase was essential for verifying the applicability and comprehensibility of newly adapted tasks. Results: The DAFS-BR was adapted for the time orientation, communication (telephone use), moneyhandling skills, and shopping skills domains, considering the target population. Conclusion: The adaptation process of the DAFS-BR for people with Down syndrome was made considering linguistic, psychological, and cultural idiosyncrasies in the target population, with the input of experts with relevant experience in each domain. After psychometric studies, the Direct Assessment of Functional Status-Down Syndrome (DAFS-DS) could be considered the first ecological instrument for evaluating functional status in adults with Down syndrome in Brazil to enhance both clinical practice and research.

TÍTULO / TITLE: - Review of early development in children with Down syndrome: family and clinician partnership

REVISTA / JOURNAL: - BMJ Paediatr Open. 2026 Jan 6;10(1):e004028. doi: 10.1136/bmjpo-2025-004028. Free PMC article.

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AUTORES / AUTHORS: - Alison Kelly et al.

INSTITUCIÓN / INSTITUTION: - Specialist Children s Services, NHS Greater Glasgow and Clyde, Glasgow, Scotland, UK

RESUMEN / SUMMARY: - This article reviews current literature on early child development in Down syndrome (DS) to provide a summary for clinicians who deliver developmental care. Literature was reviewed on acquisition of developmental skills across domains including motor, language, vision and hearing skills, and evidence for interventions. We include current concepts on promotion of early developmental care and the importance of clinician-family collaboration. The perspective of a family is included which highlights their experience of the early years.Professionals including paediatricians and therapists have a role in monitoring development and proactively identifying and mitigating co-morbidities and barriers to progress. Families are best served by integrated therapeutic and educational input from specialists where required, with customised interventions when delays are apparent.The use of DS-specific developmental frameworks and monitoring for conditions which may impact development is suggested to enable realistic, meaningful and individualised goal setting, in partnership with families. Our review additionally provides a summary of potential actions for clinicians and carers to promote optimal child development across developmental domains.

TÍTULO / TITLE: - Capturing attitudes towards research and data sharing in down syndrome (CARDS-DS): Piloting a novel parent-report measure

REVISTA / JOURNAL: - Soc Sci Humanit Open. 2026 Jun:13:102673. Epub 2026 Apr 1. Free PMC article.

Enlace a la Editora de la Revista https://pubmed.ncbi.nlm.nih.gov/42388726/

AUTORES / AUTHORS: - Ankita A Menon et al

INSTITUCIÓN / INSTITUTION: - University of Washington, Seattle, WA, United States.

RESUMEN / SUMMARY: - Open science initiatives aim to accelerate research through data sharing. While prior research has explored public attitudes toward genomic data sharing, perspectives on sharing other data types, such as neuroimaging data, remain largely unexplored. To address this gap, we developed the CARDS-DS (Capturing Attitudes toward Research and Data Sharing in Down Syndrome) questionnaire, a novel survey designed to assess parental attitudes toward open-access data sharing in large-scale Down syndrome (DS) research. CARDS-DS items were adapted from existing surveys or newly written to fit the context. We conducted interviews to refine the survey items with 14 parents of infants with DS enrolled in a longitudinal neuroimaging study. Responses were analyzed using a structured qualitative coding framework and informed modifications to the final questionnaire. The finalized 35-item CARDS-DS survey encompasses five domains: (I) benefits of research participation, (II) concerns about participation, (III) attitudes toward data sharing, (IV) decision-making in research, and (V) access to research results. Parents in this pilot study expressed strong intrinsic motivation to participate in research, citing benefits for future generations. Most were comfortable sharing medical and behavioral data, but expressed concerns about videos, photographs, and genetic data due to privacy risks and potential misuse. Trust in researchers played a critical role in shaping parental attitudes. In future work, CARDS-DS can serve as a tool for assessing attitudes of large samples of participants toward data sharing in DS research, and has potential to be modified for use with other research populations.

TÍTULO / TITLE: - The effectiveness of resilience training on coping strategies and well-being of mothers of children with down syndrome

REVISTA / JOURNAL: - J Pediatr Nurs. 2026 Aug 6:91:27-35. doi: 10.1016/j.pedn.2026.07.030. Online ahead of print.

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AUTORES / AUTHORS: - Fatemeh Akhlaghi et al

INSTITUCIÓN / INSTITUTION: - M.Sc. Student in Pediatric Nursing, Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran; Department of Pediatric and Neonatal Intensive Care Nursing, Razi Faculty of Nursing and Midwifery, Kerman University of Me

RESUMEN / SUMMARY: - Objective and background: Down syndrome, a chromosomal disorder, requires long-term care, which can reduce maternal well-being and hinder effective coping. This study aimed to determine the impact of resilience training on coping strategies and well-being of mothers of children with Down syndrome. Methods: This randomized controlled trial included 60 mothers from Down Syndrome Association (2025). After consent and matching, they were randomly assigned to intervention (n = 30) or control (n = 30) groups. The intervention group received nine 60-min resilience training sessions over two months; the control group received none. Data were collected using the Billings and Moos Coping Strategies Scale and the WHO-5 Well-being Index before and after the intervention. Analysis used SPSS-22. Results: The intervention group s total coping score decreased non-significantly (45.96 to 44.03). The control group s score increased significantly (42.6 to 51.1). All coping subscales improved significantly in the intervention group. Well-being increased significantly in both groups (intervention: 16.06 to 26.86; control: 14.3 to 21.9). Analysis of covariance showed significant post-intervention differences in total coping, its dimensions, and well-being between groups. Conclusions: Resilience training effectively enhances adaptive capacity and quality of life in mothers of children with Down syndrome. The significant improvements in coping strategies and well-being highlight the program s potential as an evidence-based intervention for this vulnerable population. Practice implications: Pediatric nurses can implement resilience training in Down syndrome support centers and outpatient clinics to improve maternal well-being and coping strategies. Integrating such training into pediatric nursing curricula and family-centered protocols is recommended to provide sustainable support for families.

TÍTULO / TITLE: - Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta-Analysis

REVISTA / JOURNAL: - Acta Paediatr. 2026 Jul 3. doi: 10.1111/apa.70628. Online ahead of print.

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AUTORES / AUTHORS: - Melina Balland et al.

INSTITUCIÓN / INSTITUTION: - Hospices Civils de Lyon, Lyon, France

RESUMEN / SUMMARY: - To estimate the prevalence of breastfeeding-overall, exclusive, partial and depending on infants age-in infants with Down syndrome, and to investigate associated factors. Methods: A systematic literature search was conducted in Medline, Cochrane Library, Web of Science, Embase, CINAHL and SciELO up to 1 August 2024. Original articles that estimated the prevalence of breastfeeding in infants with Down syndrome, written in French, English or Spanish, were included. Study quality was assessed using the Joanna Briggs Institute (JBI) scale. Meta-analyses were performed for breastfeeding outcomes and meta-regression explored heterogeneity. The review was registered in PROSPERO (CRD42021278019). Results: Twenty-six studies (3463 infants) were included. The estimated prevalence of overall breastfeeding regardless of duration was 71.6% (95% CI [60.3; 80.7]; 25 studies, 3351 infants) with high heterogeneity, I2 = 94%. The estimated prevalence of exclusive breastfeeding was 38.4% (95% CI [22.4; 57.3]; 10 studies, 1099 infants). No factor assessed in meta-regression was significantly associated with overall breastfeeding. Conclusion: The estimated breastfeeding prevalence in infants with Down syndrome is similar to that reported in the general population, despite high heterogeneity. Further studies using standardised methodology to assess breastfeeding barriers and facilitators in the context of Down syndrome would allow us to improve support for breastfeeding.

TÍTULO / TITLE: - Impact of weight loss on cardiovascular function in adolescents and young adults with overweight/ obesity and intellectual and developmental disabilities

REVISTA / JOURNAL: - Disabil Health J. 2026 Jul 16:102126. doi: 10.1016/j.dhjo.2026.102126. Online ahead of print.

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AUTORES / AUTHORS: - Geetha Haligheri et al.

INSTITUCIÓN / INSTITUTION: - Children s Mercy Hospital, Department of Pediatric Cardiology, 2401 Gillham Road, Kansas City, MO, 64108, United States of America; University of Missouri- Kansas City, Department of Pediatrics, 5000 Holmes St, Kansas City, MO, 64110, Unite

RESUMEN / SUMMARY: - Background: Overweight and obesity affect over 60% of adolescents and young adults with intellectual and developmental disabilities (IDD) and are associated with impairments in cardiovascular (CV) function. Objective: This study aims to evaluate the impact of weight loss on cardiac strain and other measures of CV function in adolescents and young adults with IDD and obesity, addressing a current literature gap. Methods: Adolescents and young adults with IDD and obesity entering a weight loss parent trial (NCT02561754) were voluntarily co-enrolled in this observational ancillary study (49 participants representing 45% of those enrolled in the parent trial). The ancillary study CV testing was performed at baseline and 6 months including echocardiograms optimized for strain, pulse wave velocity, and treadmill stress testing. Changes in CV parameters were compared to changes in body mass index (BMI). Statistical analyses included medians (interquartile range), Spearman correlation with bootstrapping, and regression modeling (adjusting for IDD diagnosis), p < 0.05 significant. Results: The ancillary study cohort consisted of 21 females (42%), 23 participants with Down syndrome (47%), and 26 with autism (53%); the mean age was 16.5 ± 2.4 years (range 13-21 years). Average weight loss through the parent trial intervention was 6.5% (BMI decreased 6.0%) over 6 months, with 9/49 (18%) losing >10% body weight. The decrease in BMI correlated with increases in left ventricular (LV) global longitudinal strain (p < 0.01), tricuspid annular plane systolic excursion (TAPSE) (p = 0.02), LV lateral E/e (p = 0.007), LV global circumferential strain (p = 0.01), and LV end-diastolic strain rate (p = 0.005). Modest changes in LV global longitudinal strain (p < 0.001) and TAPSE (p = 0.003) remained significant on multivariant modeling. Conclusions: Weight loss in adolescents and young adults with IDD and overweight/obesity relates to improvements in certain parameters of ventricular func

TÍTULO / TITLE: - Fathers experiences of caring for children with developmental disabilities

REVISTA / JOURNAL: - J Pediatr Nurs. 2026 Jul 22:90:649-656. doi: 10.1016/j.pedn.2026.07.024. Online ahead of print.

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AUTORES / AUTHORS: - Serdal Deniz, Derya Evgin

INSTITUCIÓN / INSTITUTION: - Child Development Department, Kayseri University Health Science Faculty, Kayseri, Turkey.

RESUMEN / SUMMARY: - Background: Although caregiving for children with developmental disabilities has been widely examined, fathers experiences remain relatively underexplored. This qualitative descriptive study explored fathers caregiving experiences in the context of children with developmental disabilities, focusing on psychological, social, economic, and systemic dimensions of caregiving and fathers coping and adaptation processes. Design and methods: A qualitative descriptive design was used. Data were collected through semi-structured, in-depth interviews with 19 fathers of children diagnosed with developmental disabilities, including autism spectrum disorder, Down syndrome, and intellectual disabilities. Participants were recruited using purposive sampling. Interviews were audio-recorded, transcribed verbatim, and analyzed using Braun and Clarke s thematic analysis. Rigor was ensured through credibility, dependability, confirmability, and transferability strategies, and reporting followed COREQ guidelines. Results: Six themes were identified: meaning and transformation of fatherhood, multidimensional burden and challenges, social attitudes and support versus stigma, redefinition of the paternal role, need for formal support systems, and coping and adaptation. Fathers reported psychological distress, future-oriented anxiety, financial burden, social challenges, service-related barriers, and a need for more accessible father-inclusive support. Caregiving was also associated with personal growth, meaning-making, emotional engagement, and active participation in daily care. Conclusions: Fathers caregiving experiences reflected both burden and resilience, shaped by personal, social, and systemic factors. Recognizing fathers as active caregivers is essential for strengthening family-centered pediatric care. Implications for pediatric nursing: Pediatric nurses should include fathers in assessment, communication, education, care planning, and support services to address caregiver bur

TÍTULO / TITLE: - Advances in Down Syndrome

REVISTA / JOURNAL: - Adv Pediatr. 2026 Aug;73(1):145-159. doi: 10.1016/j.yapd.2025.12.004. Epub 2026 Jan 29.

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AUTORES / AUTHORS: - Kinsa Thi Oo et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, David Geffen School of Medicine UCLA, Harbor UCLA Medical Center, 1000 W Carson Street, Torrance, CA 90509, USA; Lundquist Institute for Biomedical Innovation at Harbor UCLA Medical Center, 1124 W Carson Street, To

RESUMEN / SUMMARY: - Trisomy 21 (T21) is the most common chromosomal disorder worldwide and the leading cause of intellectual disability. Individuals with T21 present with unique facial features, developmental challenges, and multiorgan system defects including cardiovascular, pulmonary, gastrointestinal, endocrine, neurologic, hematological, immunologic diseases, and other systems. We reviewed the latest changes and advances in T21 management over the last 10 years, focusing on new findings and improvements in diagnosing, preventing, and treating complications across different organ systems, which have led to a longer lifespan and better quality of life for children with T21.

TÍTULO / TITLE: - The Down Syndrome Profile Emerges Gradually Across Early Development

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 Jul;39(4):e70218. doi: 10.1111/jar.70218. Free PMC article.

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AUTORES / AUTHORS: - Hana D Souza et al.

INSTITUCIÓN / INSTITUTION: - Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, UK

RESUMEN / SUMMARY: - Background and aims: Down syndrome (DS) is associated with intellectual disability, with particular difficulties in expressive language and gross motor abilities, and relative strengths in receptive language. Here, we examine how this profile arises over the first five years of life. Methods: A total of 104 children with DS (6-63 months) participated in a standardised developmental assessment (Mullen Scales of Early Learning; MSEL). Developmental trajectories were analysed cross-sectionally and validated with a longitudinal subsample. Results: The trajectories gradually diverged from typical development, with an uneven pattern across domains. As children with DS get older, their gross motor difficulties persist, their expressive language becomes a relative weakness, and their receptive language becomes an area of emerging relative strength. Longitudinal data revealed limited stability of individual differences except for visual reception. Conclusion: Understanding how the DS profile emerges, as well as how stable individual differences are, presents important steps towards tailored support.

TÍTULO / TITLE: - [Cross-sectional study on medical coverage for children with Down syndrome in Morocco: case study of the dysmorphology unit of the paediatrics 2 department at Ibn Sina University Hospital in Rabat]

REVISTA / JOURNAL: - Pan Afr Med J. 2026 Feb 26:53:101. doi: 10.11604/pamj.2026.53.101.49364.Free PMC article.

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AUTORES / AUTHORS: - Meriem Benadada et al.

INSTITUCIÓN / INSTITUTION: - Equipe de Recherche sur les Anomalies Congenitales, Faculte de Medecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.

RESUMEN / SUMMARY: - Introduction: Down syndrome creates complex medical needs that require multidisciplinary care. In Morocco, there is a significant scarcity of data regarding the medical coverage for these patients. This study aims to describe the medical coverage of children with trisomy 21, as well as the medical specialities involved and the costs incurred during their care pathway, with a view to identifying areas for improvement in their care, particularly in the context of the public-private partnership that is part of the process of expanding compulsory health insurance (AMO). Methods: a descriptive cross-sectional study was conducted between January 2023 and December 2024 among children followed at the dysmorphology unit of the Rabat Children s Hospital. The data were collected via standardised forms and semi-structured interviews with parents. Results: among the 118 children included (52% boys, 48% girls), the majority were aged 6-10 (31%). 58% had no medical coverage, exposing families to direct financing. The most sought-after specialities were: endocrinology/genetics (39.8%), gastroenterology (36.4%), ophthalmology (31.4%), and cardiology (29.7%). Others, such as pediatric psychiatry (0.8%) and dentistry (2.5%), remained marginal. The highest costs were for haematology (702.5 MAD/month), developmental neurology (642 MAD/month), and cardiology (413.9 MAD/month). Conclusion: in our series, only 42% of patients had medical coverage. This finding highlights the need to provide other children with Down syndrome with better access to care, smoother check-ups, and, more generally, improved medical coverage.

TÍTULO / TITLE: - Caregiver-reported social foundations and cognitive regulation in toddlers with Down syndrome

REVISTA / JOURNAL: - Front Psychiatry. 2026 Jul 1:17:1803350. doi: 10.3389/fpsyt.2026.1803350.Free PMC article.

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AUTORES / AUTHORS: - Madison M Walsh et al.

INSTITUCIÓN / INSTITUTION: - Department of Human Development and Family Studies, Colorado State University, Fort Collins, CO, United States.

RESUMEN / SUMMARY: - Introduction: Down syndrome (DS) is associated with variable social developmental outcomes. Neurocognitive areas of vulnerability in DS, like executive function (EF), are a viable starting point for investigation into potential sources of individual differences in social development in children with DS. Methods: The present study investigated the association between early caregiver reported EF and social foundational skills in 105 young children with DS (M = 20.56 months, SD = 1.55). Caregivers completed the Early Executive Functions Questionnaire (EEFQ) and the Communication and Symbolic Behavior Scales Developmental Profile, Infant-Toddler Checklist (CSBS). Results: Substantial inter-individual variability was observed among toddlers with DS along foundational social and EF dimensions. EEFQ Inhibitory control ratings were associated with all three CSBS domain scores, and Flexibility and Working Memory were associated with the Social and Symbolic domains, respectively. Conclusion: Implications for intervention and future research on regulatory vulnerabilities and social foundations in DS are discussed.

Respiratory - Respiratorio

TÍTULO / TITLE: - Understanding Severe Sleep-Disordered Breathing in Down Syndrome: Insights from a Clinical-Polysomnographic Cohort

REVISTA / JOURNAL: - J Clin Med. 2026 Jul 16;15(14):5581. doi: 10.3390/jcm15145581. Free PMC article.

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AUTORES / AUTHORS: - Marco Zaffanello et al.

INSTITUCIÓN / INSTITUTION: - Department of Surgical Sciences, Dentistry, Gynaecology and Pediatrics, University of Verona, 37129 Verona, Italy.

RESUMEN / SUMMARY: - Introduction: Children with Down syndrome (DS) are at increased risk of sleep-disordered breathing (SDB), but clinical correlates of polysomnography-derived severity remain incompletely defined. Objectives: This retrospective clinical-polysomnographic cohort study examined associations between selected demographic, anthropometric, cardiac, and otolaryngological variables and SDB severity metrics in children and adolescents with DS. Materials and Methods: Forty-eight participants aged ≤ 18 years underwent overnight polysomnography for suspected SDB. Respiratory events were scored according to paediatric AASM criteria; hypopnoeas required a ≥30% airflow reduction associated with ≥3% oxygen desaturation and/or arousal, and ODI was calculated using ≥3% desaturation events per hour of total sleep time. Outcomes included Apnoea-Hypopnoea Index (AHI), ODI, minimum SpO2, and time with SpO2 < 90%. Results: OSA was highly prevalent: AHI ≥ 1 event/h was observed in 93.8% of participants, AHI ≥ 5 events/h in 58.3%, and AHI ≥ 10 events/h in 35.4%. Mean AHI was 10.51 ± 11.82 events/h, and mean ODI was 7.07 ± 9.31 events/h. Age at PSG was not significantly associated with AHI. AHI correlated with ODI, and clinically documented adenoidal hypertrophy correlated with both AHI and ODI. Males showed significantly higher ODI values than females, whereas sex differences in AHI, minimum SpO2, and time with SpO2 < 90% were not significant. In exploratory multivariable models, adenoidal hypertrophy was associated with higher ODI, while adenotonsillectomy was associated with lower minimum SpO2. Conclusions: The association between atrioventricular canal defect and hypoxaemic burden was not robust in bootstrap analyses. These exploratory findings do not warrant changes to current screening management strategies, but support further prospective studies incorporating standardised ENT and cardiac characterisation.

TÍTULO / TITLE: - Respiratory-Related Hospital Admissions in Children and Young Adults With Down Syndrome

REVISTA / JOURNAL: - Hosp Pediatr. 2026 Aug 1;16(8):700-708. doi: 10.1542/hpeds.2025-008731.

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AUTORES / AUTHORS: - Emily DeBoer et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado.

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have an increased risk for hospitalization and intensive care owing to respiratory illnesses; however, current research does not specify which co-occurring diagnoses increase this risk throughout childhood. We aim to decrease morbidity by focusing outpatient care on the most critical diagnoses. This study examines which co-occurring diagnoses increase the risk of hospitalization and need for intensive care owing to respiratory tract infections in a large cohort of children with DS. Methods: This retrospective review of children with DS (n = 2327), receiving care from a large clinic for children with DS between 2011 and 2023, evaluated clinical data and hospitalizations. Admission diagnosis, intensive care unit (ICU) support, co-occurring diagnoses, and demographics were reviewed. Results: Thirty percent (n = 703) of children with DS had a hospital admission owing to respiratory illness, with 340 (48.4%) having more than one inpatient stay and 65 (9.2%) requiring ICU care. Most common admission reasons were pneumonia, bronchiolitis, and respiratory failure/distress. Median age at first admission was 2.0 years (mean = 3.0 years; SD = 4.3). Children diagnosed with chronic lung disease had 2.15 times higher odds of having a respiratory-related hospitalization. Children with chronic lung disease, dysphagia with aspiration, deep laryngeal penetration without aspiration, obstructive sleep apnea, asthma/reactive airway disease, pulmonary hypertension, laryngomalacia, and Medicaid insurance status were more likely to require multiple hospital admissions. Discussion: Children with DS have a high rate of hospital admissions related to respiratory tract infections. Co-occurring pulmonary diagnoses increase the risk of recurrent hospitalizations.

TÍTULO / TITLE: - Sleep Bruxism, Pharmacotherapy, Sleep Aspects and Screen Use in Children and Adolescents With Down Syndrome: A Cluster Analysis

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 Jul;39(4):e70287. doi: 10.1111/jar.70287. Free PMC article.

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AUTORES / AUTHORS: - Sania Aparecida Miyagui et al.

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Sciences, Universidade Federal de Sao Paulo, Diadema, Brazil.

RESUMEN / SUMMARY: - Background and aims: Bruxism is frequent in individuals with Down syndrome (DS), and there is a need to identify patient profiles to develop treatment plans that meet their specific needs.Methods: Cluster analysis was applied on clinical, dentofacial, sleep, pharmacotherapy, and screen use cross-sectional data from 101 children/adolescents with DS (5-18 years). Results: Cardiopathy and thyroid dysfunction were the most frequent health conditions. Centrally acting medications use increased with increasing age. Proxy-reported and clinically based sleep bruxism (SB) was found in 5% of children and 46% of adolescents. Three clusters were generated: children without SB , children/adolescents with lower frequency of SB , and adolescents with high frequency of SB . SB, age, reflux, antidepressant use, snoring, sleep time, and smartphone/tablet use contributed most to cluster classification. Conclusion: The group of adolescents with high frequency of SB was characterized by antidepressant use, snoring, reflux, shorter sleep, and longer screen usage time.

TÍTULO / TITLE: - Screening awareness of obstructive sleep apnea in children with down syndrome among primary care and pediatric sub-specialty clinicians by survey questionnaire

REVISTA / JOURNAL: - Sleep Breath. 2026 Jun 19;30(4):190. doi: 10.1007/s11325-026-03731-x.

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AUTORES / AUTHORS: - Lauren Tranthem et al.

INSTITUCIÓN / INSTITUTION: - University of Louisville School Medicine, University of Louisville, Louisville, KY, USA.

RESUMEN / SUMMARY: - To assess the screening awareness of obstructive sleep apnea in children with Down syndrome among Primary Care and Pediatric Sub-Specialty Clinicians. Methods: A 15-question cross-sectional survey was conducted to determine the current awareness of OSA screening in DS children among primary care and pediatric subspecialty clinicians in the state of Kentucky. A Fishers Exact test was performed to determine if the proportions of respondents differed significantly among different clinicians. Results: A total of 97 responses were included. 73% of the clinicians specialized in pediatrics, 23% in family medicine, and 3% in ENT. Of the respondents, 50% were physician attendings, 27% were residents, and 23% were nurse practitioners or physician assistants. Although 94% of the respondents were aware that the prevalence of OSA in children with DS is higher than normally developing children, only 26% were aware of AAP guidelines and only 29.6% knew the age-specific threshold for screening regardless of symptoms. A significant difference existed between the type of clinicians who agreed that all DS children should undergo OSA screening regardless of symptoms: 85.4% of attending physicians, 57.7% of residents, and 81.8% of nurse practitioners (p < 0.03). In terms of specialty, 84% in pediatrics, 50% in medicine/pediatrics, and 59% in family medicine (p < 0.003). Conclusions: AAP screening guidelines for awareness of OSA in DS children vary among clinicians, their practice, and their specialty in Kentucky. Given the clinical implications of OSA, clinicians can utilize this study to identify knowledge gaps to address the barriers to screening guidelines education.

TÍTULO / TITLE: - The transcriptional landscape of developing human trisomy 21 lungs

REVISTA / JOURNAL: - Am J Respir Cell Mol Biol. 2026 Mar 1;74(3):388-402. doi: 10.1165/rcmb.2025-0217OC.

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AUTORES / AUTHORS: - Soumyaroop Bhattacharya et al.

INSTITUCIÓN / INSTITUTION: - Center for Children s Health Research, University of Rochester Medical Center, Rochester, NY, United States.

RESUMEN / SUMMARY: - Rationale: Trisomy 21 (T21), resulting in Down syndrome (DS), is the most prevalent chromosomal abnormality worldwide. While pulmonary disease is a major cause of morbidity and mortality in DS, the ontogeny of pulmonary complications remains poorly understood. We recently demonstrated that T21 lung anomalies, including airway branching and vascular lymphatic -abnormalities, are initiated in utero. Here, we aimed to describe molecular changes at the single-cell level in prenatal T21 lungs. Methods: Single-cell RNA sequencing was used to generate transcriptomic profiles of individual human lung cells in tissue obtained from T21 (n = 5) and non-T21 (n = 4) prenatal lungs. Clustering of cells, marker identification, uniform manifold approximation and projection representation, and differential expression analysis were performed in Seurat. Cell type annotation and pathway analysis were annotated using ToppFun and a human fetal lung cell atlas. Spatial differences in cellular phenotypes were validated using immunofluorescence staining and fluorescent in situ hybridization. Results: Our results detail changes in gene expression at the time of initiation of histopathological abnormalities in T21 prenatal lungs. Notably, we identify precocious differentiation of epithelial cells, widespread induction of key extracellular matrix molecules in mesenchymal cells, and hyperactivation of IFN signaling in endothelial cells. Conclusions: This single-cell dataset of T21 lungs greatly expands our understanding of antecedents to pulmonary complications and should facilitate efforts to mitigate respiratory disease in DS.

Surgery - Cirugía

TÍTULO / TITLE: - Multiple ventral hernias in a 30-year-old female with Down syndrome: a case report and review of the literature

REVISTA / JOURNAL: - J Med Case Rep. 2026 Jul 19. doi: 10.1186/s13256-026-06397-x. Online ahead of print. Free article

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AUTORES / AUTHORS: - Seyed Abbas Fatemiyoun et al

INSTITUCIÓN / INSTITUTION: - Department of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

RESUMEN / SUMMARY: - Ventral hernias are common abdominal wall defects, usually occurring as isolated entities related to prior surgery, trauma, or increased intra-abdominal pressure. The occurrence of multiple synchronous ventral hernias in a single patient is rare, and reports in individuals with Down syndrome are particularly scarce. Down syndrome is associated with connective tissue abnormalities, hypotonia, and ligamentous laxity, which may predispose patients to hernia formation. However, multiple simultaneous ventral hernias in this population have not been widely described. This case adds to the limited literature by presenting an unusual constellation of three synchronous ventral hernias in an adult female with Down syndrome, highlighting the diagnostic and therapeutic challenges in such patients. Case presentation: A 30-year-old Baluch female with Down syndrome presented with a 2-month history of abdominal pain, progressive swelling, postprandial vomiting, anorexia, constipation, and weight loss. She had no history of prior abdominal surgery. Clinical examination revealed epigastric tenderness and protrusions along the linea alba. Abdominal ultrasonography confirmed two distinct fascial defects containing omentum, consistent with ventral hernias. Preoperative evaluation was significant for hypothyroidism and long QT syndrome but otherwise unremarkable. Following optimization, she underwent open surgical repair via a midline incision. Intraoperative exploration revealed three discrete fascial defects, ranging from 0.5 to 2 cm in diameter, each with hernia sacs. The sacs were excised, the defects connected, and closure was performed with non-absorbable sutures reinforced by an onlay polypropylene mesh. The postoperative course was uneventful. She resumed oral intake on the first postoperative day, was discharged on the second day, and showed no evidence of recurrence or complications at 30-day follow-up. At 1 month, she had returned to normal daily activities with satisfactory w

Therapeutics - Terapéutica

TÍTULO / TITLE: - Integrative Insights Into DYRK1A From Molecular Function to Therapeutic Advancement

REVISTA / JOURNAL: - Chem Biol Drug Des. 2026 Jul;108(1):e70366. doi: 10.1111/cbdd.70366. Free PMC article.

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AUTORES / AUTHORS: - Sampriti Paul et al.

INSTITUCIÓN / INSTITUTION: - College of Pharmaceutical Sciences, Dayananda Sagar University, Bengaluru South, India.

RESUMEN / SUMMARY: - Dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A), located within the Down syndrome critical region and implicated in Alzheimers disease (AD), Parkinson s disease (PD), and context-dependent cancer biology, represents a high-value yet challenging therapeutic target. This review compiles comprehensive structure-activity relationship (SAR) insights essential for medicinal chemists designing selective DYRK1A inhibitors. We detail the molecular architecture of the ATP-binding pocket of DYRK1A, key regulatory residues (Lys188, Phe238, Glu239, Leu241), and structure-function relationships governing inhibitor classes: ATP-competitive agents, ATP-non-competitive inhibitors, and Proteolysis-Targeting Chimeras (PROTAC) degraders with emphasis on functional group modifications and scaffold optimization strategies. Readers will gain actionable insights on binding mode predictions, potency-selectivity trade-offs, and prioritization of lead compounds for preclinical validation. The framework addresses pharmacokinetic property optimization and selectivity profiling across kinase families, enabling researchers to accelerate rational inhibitor design and facilitate translation of DYRK1A therapeutics into clinical trials for neurodegenerative and developmental disorders.

TÍTULO / TITLE: - Efficacy of a Microencapsulated Sugar-Free Probiotic Oral Rinse on Gingival Health and Salivary Matrix Metalloproteinases 8 and 9 in Children With Down Syndrome: A Pilot Randomized Clinical Trial

REVISTA / JOURNAL: - Spec Care Dentist. 2026 Jul-Aug;46(4):e70213. doi: 10.1111/scd.70213. Free PMC article.

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AUTORES / AUTHORS: - Swagata Saha et al.

INSTITUCIÓN / INSTITUTION: - Department of Pedodontics and Preventive Dentistry, Dr. D. Y. Patil Dental College & Hospital, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India.

RESUMEN / SUMMARY: - Background: Children with Down Syndrome (DS) are at heightened risk for oral diseases due to their distinct physiological and immune characteristics. Matrix metalloproteinases (MMPs), particularly MMP-8 and MMP-9, are key mediators of periodontal tissue breakdown. Probiotics may provide a novel, well-tolerated alternative to conventional antiseptics by modulating these biomarkers. Methods: This single-center, parallel-arm, randomized, single-blind pilot trial compared a sugar-free microencapsulated probiotic oral rinse against a 0.2% chlorhexidine digluconate rinse in children with DS. A total of 118 participants aged 6-14 years were enrolled; following attrition after oral rehabilitation, 40 children (20 per group) were allocated to intervention, and 15 participants per group completed all assessments. After individualized oral rehabilitation and oral health education, participants were randomized (1:1). Group 1 received probiotic rinse and Group 2 chlorhexidine rinse, both administered twice daily for two weeks. Primary outcomes were salivary MMP-8 and MMP-9 levels (enzyme-linked immunosorbent assay). Secondary outcomes were plaque index (PI), gingival index (GI), oral hygiene index-simplified (OHI-S), and bleeding on probing (BOP). Outcomes were assessed at baseline prior to oral rehabilitation (T0), two weeks after completion of oral rehabilitation (T1), two weeks following completion of the rinse protocol (T2), and six months post-rinse (washout period, T3) by blinded examiners. Results: All 30 randomized participants completed the trial (15 per group). Both groups showed significant within-group reductions in MMP-8, MMP-9, PI, GI, OHI-S, and BOP at follow-up (p < 0.05). Between-group comparisons showed no significant differences in MMP levels, PI, GI or OHI-S at any interval. At six months, the probiotic group demonstrated a greater reduction in BOP compared with chlorhexidine (median difference -6.0; 95% CI [-9.0, -3.0]; p = 0.001). Given the two-week duratio

TÍTULO / TITLE: - An updated patent review of dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors (2020-present)

REVISTA / JOURNAL: - Expert Opin Ther Pat. 2026 Aug;36(8):713-741. doi: 10.1080/13543776.2026.2694586. Epub 2026 Jul 2.

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AUTORES / AUTHORS: - Mennatallah Abdallah et al

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Chemistry, Faculty of Pharmacy and Biotechnology, German University in Cairo, Cairo, Egypt.

RESUMEN / SUMMARY: - Introduction: Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a conserved CMGC serine/threonine kinase with an autophosphorylation-dependent activation mechanism. As a dosage-sensitive regulator of transcription, RNA splicing, cell-cycle progression, and signaling, DYRK1A is implicated in neurological, oncological, cardiovascular, metabolic, immune, and infectious diseases. These roles have driven drug discovery, from early probes to advanced clinical-stage inhibitors. Areas covered: This review covers patent literature related to the discovery of DYRK1A inhibitors and degraders published from January 2020 to the review cutoff date. The literature search was conducted in WIPO, Reaxys, SciFinder, Lens.org, Espacenet, USPTO, and Google Patents. Expert opinion: Recent patents indicate that DYRK1A inhibition is no longer a single pharmacological concept but an indication-driven strategy shaped by tissue access, delivery, and mechanistic pharmacodynamic biomarkers. The most credible programs prioritize functional pathway modulation and meaningful target engagement at therapeutically achievable exposure rather than maximal biochemical potency alone, with selectivity defined by disease biology rather than as an absolute requirement. Delivery-advantaged indications such as osteoarthritis and peripheral inflammatory disorders may provide the earliest clinical validation, whereas CNS programs will require brain-penetrant compounds with controlled, likely partial, target modulation. Degraders and macrocycles broaden the toolbox, but biomarker-guided translation remains the key determinant of success.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE: - Serum Creatinine Levels in Children With Down Syndrome: A Single-Centre Retrospective Study in Ireland

REVISTA / JOURNAL: - Acta Paediatr. 2026 Jun 17. doi: 10.1111/apa.70640. Online ahead of print.

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AUTORES / AUTHORS: - C Broderick Farrell et al.

INSTITUCIÓN / INSTITUTION: - Department of Child Development and Neurodisability, Children s Health Ireland, Tallaght, Dublin, Ireland.

RESUMEN / SUMMARY: - Aim: To assess the proportion of children with Down syndrome (DS) with creatinine levels above standard paediatric reference ranges in a single-centre Irish outpatient cohort. Methods: We performed a retrospective cross-sectional study of children aged 0-16 years attending the DS Clinic at Children s Health Ireland, Tallaght, between June 2022 and June 2024. Children with known renal disease and acute results were excluded. Creatinine levels were analysed using age- and sex-specific reference ranges. The proportion with creatinine above the upper reference limit was compared with the expected proportion of 2.5% using a one-sided exact binomial test. Estimated glomerular filtration rate (eGFR) was calculated using the bedside Schwartz equation, where height was available. Results: A total of 194 patients were included. Among them, 52 (26.8%) had creatinine levels above the upper reference limit (p < 0.0001). Additionally, 42 (21.6%) had persistently elevated creatinine (p < 0.0001). Height was available for 124 children. Of those, 42 (34%) had an eGFR < 90 mL/min/1.73 m2 and 1 (0.8%) had an eGFR < 60 mL/min/1.73 m2. Conclusion: Children with DS in this Irish clinic frequently had creatinine levels above standard reference ranges. Further studies are required to clarify the clinical significance of these findings.

Education - Educación

TÍTULO / TITLE: - The impact of Mainstream versus Specialist secondary school placement on health and education outcomes for pupils with neurodisability in England: A target trial emulation study using the ECHILD datab

REVISTA / JOURNAL: - Int J Popul Data Sci. 2026 Jul 6;11(5):3560. doi: 10.23889/ijpds.v11i5.3560. eCollection 2026.

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AUTORES / AUTHORS: - Julia Shumway et AL.

INSTITUCIÓN / INSTITUTION: - Institute of Child Health University College London, London, United Kingdom

RESUMEN / SUMMARY: - Introduction: UK policymakers have proposed supporting more children with neurodisability in Mainstream rather than Specialist secondary schools, despite little evidence on which schools provide better support. Methods: We aim to apply a target trial emulation (TTE) approach to linked health and education data from ECHILD to understand the causal impact of Mainstream versus Specialist secondary school (Year 7 [Y7], age 12) on health (hospitalisations) and education (absences) outcomes for pupils with neurodisability in England. We followed cohorts attending Mainstream Year 6 (baseline) between 2008 and 2017 with four categories of neurodisability: Down syndrome (DS), cerebral palsy (CP), autism, and learning disability (LD). We evaluated requisite assumptions for conducting causal analyses using a TTE approach by estimating propensity scores (PS) based on baseline health, education, and sociodemographic characteristics. Results: Cohorts included 43,535 pupils (DS: n = 1,984; CP: n = 3,694; autism: n = 27,451; LD: n = 10,406). The proportions in Mainstream Y7 were respectively 43%, 80%, 74%, and 60%. For all cohorts, those in Specialist Y7 had higher levels of health complexity, absences, and deprivation. We found common support for each cohort, with highest support between pupils with DS in Mainstream (mean PS: 0.62, standard deviation [SD]: 0.14) and Specialist Y7 (mean PS: 0.52, SD: 0.15). Conclusions: The estimated PS distributions suggest that causal inference will be a viable approach. We will apply PS-based methods to adjust for non-randomised school placement (inverse probability weighting [IPW], augmented IPW, and g-computation) and estimate the causal effect of Mainstream versus Specialist secondary school placement on outcomes for pupils with neurodisability.

TÍTULO / TITLE: - The impact of a 12-month randomized exercise intervention on cognitive function and brain volume in adults with down syndrome

REVISTA / JOURNAL: - Disabil Health J. 2026 Jul 30:102134. doi: 10.1016/j.dhjo.2026.102134. Free article

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AUTORES / AUTHORS: - Lauren T Ptomey et al

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, The University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS, 66160, USA.

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) have a high risk for Alzheimers disease (AD). While exercise improves cognition and brain health in the general population, few long-term studies have evaluated its effects in DS. Objective: We examined the impact of a 12-month remotely delivered exercise program on cognitive function and brain volume in adults with DS. Methods: 81 adults with DS (mean age = 27 years) were randomized to high-frequency remote exercise (3 sessions/week, RH), low-frequency remote exercise (1 session/week, RL), or a support and education control (SE). Cognitive function was assessed using the DS-adapted Cambridge Neuropsychological Test Automated Battery (CANTAB), and brain volumes were measured via MRI at baseline and 12 months. Results: There were no significant changes in any group in executive function or episodic memory (all p > 0.05), but the RH arm significantly improved processing speed across the 12-month intervention (EMM change: 0.17; p = 0.04). No between-group differences were observed for changes in overall cognitive scores. The RL group showed a decrease in total grey matter volume (EMM change -0.82; p = 0.02) and the RH group had no change (EMM change: 0.08; p = 0.72), yielding a significant group effect across time (EMM: 0.90; p = 0.04). Additionally, the RH arm had an increase in right hippocampal volume over 12 months (EMM change: 0.004; p = 0.04). Conclusion: The improvements in reaction time, right hippocampal volume, and grey matter preservation suggest that structured exercise may influence cognition and brain health in adults with DS

TÍTULO / TITLE: - Aquatic Exercise as a Complementary Intervention for Cognitive, Behavioral, Motor, and Functional Outcomes in Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Down Syndrome: A N

REVISTA / JOURNAL: - J Clin Med. 2026 Jul 8;15(14):5334. doi: 10.3390/jcm15145334. Free PMC article.

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AUTORES / AUTHORS: - Felipe Montalva-Valenzuela et al.

INSTITUCIÓN / INSTITUTION: - Escuela de Entrenador en Actividad Física y Deporte, Facultad de Ciencias Humanas, Universidad Bernardo O Higgins, Santiago 8370040, Chile.

RESUMEN / SUMMARY: - Background: Neurodevelopmental disorders such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Down syndrome (DS) are associated with cognitive, behavioral, motor, and functional impairments that may negatively affect daily functioning and quality of life. Aquatic exercise has emerged as a potential complementary intervention due to its unique physical and sensory characteristics. Objective: To analyze the available evidence regarding aquatic exercise as a complementary intervention for individuals with ADHD, ASD, and DS, considering its potential effects on cognitive, behavioral, motor, and functional outcomes. Methods: A narrative review was conducted using studies identified in PubMed, Scopus, and Web of Science between November 2025 and February 2026. Experimental and quasi-experimental designs, including case studies, evaluating aquatic exercise interventions in individuals with ADHD, ASD, or DS were included. Results: Twenty-two studies were analyzed (ADHD = 7, ASD = 10, DS = 5). In ADHD, aquatic exercise was associated with improvements in inhibitory control, attention, cognitive flexibility, behavioral regulation, academic performance, and cardiorespiratory fitness. In ASD, the main benefits included improvements in balance, motor coordination, aquatic skills, social interaction, communication, adaptive behavior, and behavioral regulation, particularly in Halliwick-based interventions. In DS, positive effects were mainly observed in aerobic capacity, muscular strength, body composition, balance, functional physical fitness, and motor autonomy. Across studies, interventions commonly involved 2-3 weekly sessions lasting 30-90 min over 6-36 weeks. Conclusions: Aquatic exercise appears to be a promising complementary intervention for individuals with ADHD, ASD, and DS, with potential benefits across cognitive, behavioral, motor, and functional domains. Although the available evidence is heterogeneous and methodological limi

TÍTULO / TITLE: - Supporting the development of number and early algebraic thinking in children with Down syndrome: A parent-led intervention study

REVISTA / JOURNAL: - J Intellect Disabil. 2026 Jul 27:17446295261469636. doi: 10.1177/17446295261469636. Online ahead of

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AUTORES / AUTHORS: - Kathy Cologon

INSTITUCIÓN / INSTITUTION: - Children s Voices Centre, Charles Sturt University, Bathurst, NSW, Australia

RESUMEN / SUMMARY: - Limited research has investigated early numeracy intervention with children with Down syndrome. This study examines the impact of a parent-led early numeracy intervention, emphasising number skills and early algebraic thinking. Twelve children with Down syndrome aged 28 to 62 months and their parents participated in this small-scale randomised controlled trial. Participants received intervention sessions over 17-weeks. Language, memory and cognition were measured pre-intervention. Mathematical patterning, and highest-count sequence scores were assessed pre- and post-intervention. The experimental group showed significant improvements in mathematical patterning scores (U = .000, p = .004, r = 1.0). There were no significant changes in highest-count sequence scores, though Cohen s d suggests a moderate effect size (U = 7.500, p = .089, d = 0.49). These results suggest that this parent-led early numeracy intervention may be generally effective in supporting the development of early mathematical thinking in children with Down syndrom.

TÍTULO / TITLE: - Contemporary physiotherapy interventions for balance rehabilitation in children with Down syndrome: a systematic review of randomized controlled trials

REVISTA / JOURNAL: - Eur J Pediatr. 2026 Jul 27;185(8):615. doi: 10.1007/s00431-026-07255-0. Free PMC article.

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AUTORES / AUTHORS: - Dimitra Kanopoulou et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Human Performance & Rehabilitation Laboratory, School of Health Sciences, University of Thessaly, 3Rd Km Old National Road Lamia-Athens, 35100, Lamia, Greece.

RESUMEN / SUMMARY: - Children with Down syndrome commonly present with impaired balance and postural control due to musculoskeletal, sensory, and neuromotor deficits, which may negatively affect functional mobility and participation in daily activities. Over the last decade, a variety of contemporary physiotherapy interventions have been investigated to improve balance in this population. The aim of this systematic review was to synthesize evidence from randomized controlled trials evaluating physiotherapy interventions targeting balance rehabilitation in children with Down syndrome. A systematic search was conducted in PubMed and Scopus for studies published between 2015 and 2025. Randomized controlled trials investigating physiotherapy-related interventions targeting balance in children and adolescents with Down syndrome were included. Two independent reviewers performed study selection and data extraction. Methodological quality was assessed using the Physiotherapy Evidence Database (PEDro) scale. A total of 14 randomized controlled trials involving 462 participants were included. The included interventions comprised isokinetic training, trampoline-based plyometric exercise, Pilates, dual-task exercise, hippotherapy, whole-body vibration, foot muscle strengthening, swimming programs, kinesiotaping, and vestibular stimulation. Improvements in balance-related outcomes were observed across a broad range of physiotherapy interventions, particularly when approaches were combined with conventional physiotherapy programs. Conclusion: Contemporary physiotherapy interventions appear to be associated with improvements in balance-related outcomes in children with Down syndrome. The findings of this review support the integration of technology-assisted and task-oriented rehabilitation approaches into pediatric physiotherapy practice. However, the overall methodological quality of the included studies ranged from fair to high, and further large-scale, high-quality RCTs with long-term follow-up ar

TÍTULO / TITLE: - Fathers experiences of caring for children with developmental disabilities

REVISTA / JOURNAL: - J Pediatr Nurs. 2026 Jul 22:90:649-656. doi: 10.1016/j.pedn.2026.07.024. Online ahead of print.

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AUTORES / AUTHORS: - Serdal Deniz, Derya Evgin

INSTITUCIÓN / INSTITUTION: - Child Development Department, Kayseri University Health Science Faculty, Kayseri, Turkey.

RESUMEN / SUMMARY: - Background: Although caregiving for children with developmental disabilities has been widely examined, fathers experiences remain relatively underexplored. This qualitative descriptive study explored fathers caregiving experiences in the context of children with developmental disabilities, focusing on psychological, social, economic, and systemic dimensions of caregiving and fathers coping and adaptation processes. Design and methods: A qualitative descriptive design was used. Data were collected through semi-structured, in-depth interviews with 19 fathers of children diagnosed with developmental disabilities, including autism spectrum disorder, Down syndrome, and intellectual disabilities. Participants were recruited using purposive sampling. Interviews were audio-recorded, transcribed verbatim, and analyzed using Braun and Clarke s thematic analysis. Rigor was ensured through credibility, dependability, confirmability, and transferability strategies, and reporting followed COREQ guidelines. Results: Six themes were identified: meaning and transformation of fatherhood, multidimensional burden and challenges, social attitudes and support versus stigma, redefinition of the paternal role, need for formal support systems, and coping and adaptation. Fathers reported psychological distress, future-oriented anxiety, financial burden, social challenges, service-related barriers, and a need for more accessible father-inclusive support. Caregiving was also associated with personal growth, meaning-making, emotional engagement, and active participation in daily care. Conclusions: Fathers caregiving experiences reflected both burden and resilience, shaped by personal, social, and systemic factors. Recognizing fathers as active caregivers is essential for strengthening family-centered pediatric care. Implications for pediatric nursing: Pediatric nurses should include fathers in assessment, communication, education, care planning, and support services to address caregiver bur

TÍTULO / TITLE: - A mobile learning environment: a preliminary study of a developmentally progressive modified ride-on car in infants with Down Syndrome

REVISTA / JOURNAL: - Disabil Rehabil Assist Technol. 2026 Jul 22:1-11. doi: 10.1080/17483107.2026.2703296. Online ahead

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AUTORES / AUTHORS: - Andrina Sabet et al.

INSTITUCIÓN / INSTITUTION: - Dept of Physical Therapy, Cleveland State University, Cleveland, OH, USA.

RESUMEN / SUMMARY: - Purpose: An embodied theory of development views an infant s mobility as a causal factor in their cognitive, language and motor development. This study, as guided by embodied theory, predicts that infants with Down Syndrome (DS) provided daily mobility via a modified ride on car (MROC) would display higher developmental scores compared to infants with no access to a MROC. Methods: Eight infants with DS were initially provided a seated MROC later followed by a custom Sit-Stand-Power Walking (3in1) MROC with ongoing paediatric physical therapist follow-up. Infants were encouraged to use the MROC 30 min daily during family based play. These infants were compared to a database of scores from infants with DS not provided MROCs. The outcome measures were the Bayley Scales of Infant and Toddler Development 3rd edition subscales of cognition, receptive language, expressive language, fine motor, and gross motor. Results: Median frequency of use was calculated at 72% with a group range from 39-96% over an intervention median duration of 13.5 months and a group range of 6.7-15.0 months. The MROC group scored higher on most cognitive, language and motor scores (Mann Whitney, (p<.05). Conclusion: This study supports the use of advanced MROCs such as the 3in1 as a "mobile learning environment" to advance general development while simultaneously increasing daily mobility and participation. Future studies can now test more specific hypotheses, use more detailed measures, larger samples, and more advanced MROC designs.

TÍTULO / TITLE: - The Down Syndrome Profile Emerges Gradually Across Early Development

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 Jul;39(4):e70218. doi: 10.1111/jar.70218. Free PMC article.

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AUTORES / AUTHORS: - Hana D Souza et al.

INSTITUCIÓN / INSTITUTION: - Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, UK

RESUMEN / SUMMARY: - Background and aims: Down syndrome (DS) is associated with intellectual disability, with particular difficulties in expressive language and gross motor abilities, and relative strengths in receptive language. Here, we examine how this profile arises over the first five years of life. Methods: A total of 104 children with DS (6-63 months) participated in a standardised developmental assessment (Mullen Scales of Early Learning; MSEL). Developmental trajectories were analysed cross-sectionally and validated with a longitudinal subsample. Results: The trajectories gradually diverged from typical development, with an uneven pattern across domains. As children with DS get older, their gross motor difficulties persist, their expressive language becomes a relative weakness, and their receptive language becomes an area of emerging relative strength. Longitudinal data revealed limited stability of individual differences except for visual reception. Conclusion: Understanding how the DS profile emerges, as well as how stable individual differences are, presents important steps towards tailored support.

TÍTULO / TITLE: - Cognitive-pragmatic challenges in the verbal behaviour of Iraqi children with Down syndrome

REVISTA / JOURNAL: - Clin Linguist Phon. 2026 Jul 17:1-18. doi: 10.1080/02699206.2026.2692480. Online ahead of print.

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AUTORES / AUTHORS: - Hardan Mohammed Mousa, Rihab Alattar

INSTITUCIÓN / INSTITUTION: - Department of English, College of Languages, University of Baghdad, Baghdad, Iraq.

RESUMEN / SUMMARY: - This research study examined the cognitive-pragmatic aspects of verbal communication abilities in Iraqi children with Down syndrome by utilising the Children s Communication Checklist-2 (CCC-2). Forty-four children aged 8-12 years were evaluated using the Arabic version of the CCC-2, which was completed by a parent, legal guardian, or teacher familiar with the child s daily communication. A mixed-method design was used to analyse the data. The quantitative data were analysed using descriptive statistics, t-tests, ANOVA, and correlation, while the qualitative caregiver data were interpreted using the Cognitive-Pragmatic Component Model (CPCM), informed by Relevance Theory, Theory of Mind, and Executive Function. The findings showed difficulties across all subscales, with structural language domains, particularly speech and syntax, more impaired than the pragmatic subscales. A strong correlation was identified between the Use of Context and Social Relations, highlighting the close relationship between social interaction and contextual understanding. The findings indicated the effect of linguistic and cultural factors on communication, besides the lack of early interventions for Iraqi children with Down syndrome. These findings underscore the need for culturally grounded interventions with a pragmatic focus for Arabic-speaking children with Down syndrome.

TÍTULO / TITLE: - Comparing feedback learning and arousal responses in Down, Fragile X, and Williams syndromes

REVISTA / JOURNAL: - NPJ Sci Learn. 2026 Jul 16;11(1):46. doi: 10.1038/s41539-026-00438-2. Free PMC article.

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AUTORES / AUTHORS: - Astrid E Z Hallman et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Stockholm University, Stockholm, Sweden.

RESUMEN / SUMMARY: - Mechanisms underlying feedback learning in intellectual disability (ID) remain poorly understood. Down syndrome (DS), Fragile X syndrome (FXS), and Williams syndrome (WS) are genetic syndromes associated with ID, with distinct attention and arousal regulation profiles. Pupil dilation is a well-established index of feedback processing in typical development; little is known about these processes in non-social learning in these syndromes. Participants with DS (n = 13), FXS (n = 13), WS (n = 27), and typically developing (TD) individuals (n = 56) aged 6-60 years completed a reward contingency reversal task while eye-tracking recorded pupil dilation and gaze allocation. Data were analyzed using Bayesian mixed-effects models. All groups effectively learned from feedback, staying with rewarded options and switching after losses. WS participants performed similarly to TD participants. DS and FXS individuals showed more variable behavioral performance, indicating potential individual differences in feedback processing that warrant further investigation. Physiologically, TD individuals showed greater pupil dilation following losses than wins, whereas WS individuals showed no difference, suggesting attenuated physiological sensitivity to feedback valence. All groups tended to fixate on the previously rewarded options. This research highlights the value of combining behavioral and physiological approaches in ID research.

TÍTULO / TITLE: - Caregiver-reported social foundations and cognitive regulation in toddlers with Down syndrome

REVISTA / JOURNAL: - Front Psychiatry. 2026 Jul 1:17:1803350. doi: 10.3389/fpsyt.2026.1803350. Free PMC article.

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AUTORES / AUTHORS: - Madison M Walsh et al.

INSTITUCIÓN / INSTITUTION: - Department of Human Development and Family Studies, Colorado State University, Fort Collins, CO, United States.

RESUMEN / SUMMARY: - Introduction: Down syndrome (DS) is associated with variable social developmental outcomes. Neurocognitive areas of vulnerability in DS, like executive function (EF), are a viable starting point for investigation into potential sources of individual differences in social development in children with DS. Methods: The present study investigated the association between early caregiver reported EF and social foundational skills in 105 young children with DS (M = 20.56 months, SD = 1.55). Caregivers completed the Early Executive Functions Questionnaire (EEFQ) and the Communication and Symbolic Behavior Scales Developmental Profile, Infant-Toddler Checklist (CSBS). Results: Substantial inter-individual variability was observed among toddlers with DS along foundational social and EF dimensions. EEFQ Inhibitory control ratings were associated with all three CSBS domain scores, and Flexibility and Working Memory were associated with the Social and Symbolic domains, respectively. Conclusion: Implications for intervention and future research on regulatory vulnerabilities and social foundations in DS are discussed.

TÍTULO / TITLE: - Caregiver-reported relevance of the BRIEF-2 in youth with Down syndrome: an initial content validity study

REVISTA / JOURNAL: - J Neurodev Disord. 2026 Jul 14. doi: 10.1186/s11689-026-09715-y. Online ahead of print. Free artic

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AUTORES / AUTHORS: - Natasha N Ludwig et al.

INSTITUCIÓN / INSTITUTION: - Center for Neuropsychological and Psychological Assessment, Kennedy Krieger Institute, Baltimore, USA

RESUMEN / SUMMARY: - Background: Establishing evidence of content validity, or how well a measure reflects the intended outcome, is essential for developing or selecting assessment tools that support individualized care and research in clinical populations like Down syndrome (DS). This study aimed to examine caregiver-reported relevance of a widely used measure of executive function in school-aged youth with DS, the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), Parent Form. Specifically, this study focused on one aspect of content validity, relevance to the target population, which has yet to be systematically evaluated in DS. Methods: This study integrated data from two online studies of youth with DS. After completing the BRIEF-2, caregivers were asked forced-choice questions about the relevance of the measure to their child with DS, as well as an open-text question about their response strategy for items they deemed not relevant. Results: Caregivers of 281 youth with DS between the ages of 6-18 years (M = 12.7, SD = 3.4) reported on the relevance of the BRIEF-2 for their child. Just under half (46.3%) of caregivers reported that they deemed items not relevant. Of those caregivers who deemed items not relevant, just over half (57.7%) described their response strategy was to select "Never" for items that were not relevant; however, a range of strategies was employed. Caregivers rated the measure overall as moderately relevant to their child, although there was considerable range in ratings. Additionally, caregivers of youth who were ≤ 12 years old, had lower expressive language skills (i.e., no phrases/sentences) or lower adaptive function (> 2 SDs below the mean), rated items as not relevant to their child more often and provided lower overall measure relevance ratings than caregivers of youth who were older and/or had stronger functional skills. Conclusions: This initial evaluation of the content validity of the BRIEF-2 in school-aged youth with DS

TÍTULO / TITLE: - Assessment of knowledge, attitudes, pharmacotherapy counseling, and patient education about Down syndrome among community pharmacists: a cross-sectional study

REVISTA / JOURNAL: - Front Public Health. 2026 Jun 29:14:1879369. doi: 10.3389/fpubh.2026.1879369. Free PMC article.

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AUTORES / AUTHORS: - Anmar Al-Taie, Zekiye Yılmaz

INSTITUCIÓN / INSTITUTION: - Clinical Pharmacy Department, Faculty of Pharmacy, Istinye University, Istanbul, Tunrkiye.

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is one of the most common causes of intellectual disability and is associated with multiple clinical challenges. The role of pharmacists in the care of individuals with DS is essential and cannot be overlooked, given the specific clinical characteristics that may affect the pharmacotherapy of this condition. Objective: This study aimed to assess community pharmacists knowledge and attitudes toward individuals with DS, as well as their provision of patient education and counseling in Tunrkiye. Methods: A descriptive cross-sectional study was conducted using an online questionnaire among community pharmacists in Tunrkiye. Results: A total of 497 community pharmacists participated in the study, of whom 77.7% had no prior DS training. Approximately 45.5% of participants demonstrated awareness of medications used in the pharmacotherapy of DS, and 39.6% were aware of potential adverse drug effects associated with medications used in individuals with DS. The mean scores were 5.4 ± 1.4 for general knowledge of DS, 5.7 ± 2.3 for DS treatment knowledge, and 5.1 ± 1.2 for attitudes toward DS. A statistically significant association was found between the knowledge of DS clinical characteristics (KDSC) and female gender (p = 0.01), higher educational level (p = 0.009), and prior DS training (p = 0.002). Conclusion: Turkish community pharmacists demonstrated a good level of knowledge and positive attitudes toward DS. However, gaps were identified in pharmacotherapy knowledge, as well as in patient education and counseling related to this condition.

TÍTULO / TITLE: - Developmental Milestones for Children With Down Syndrome: Revised Estimates Using Moving Average Summaries

REVISTA / JOURNAL: - Ann Child Neurol Soc 2026 Mar 25;4(2):140-144. doi: 10.1002/cns3.70065. eCollection 2026 Jun. Free P

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AUTORES / AUTHORS: - Rahaf Tarawneh et al.

INSTITUCIÓN / INSTITUTION: - Department of Biostatistics Harvard T.H. Chan School of Public Health Boston Massachusetts USA

RESUMEN / SUMMARY: - Objective: Children with Down syndrome follow distinct developmental trajectories that require specialized monitoring and counseling. We aimed to provide updated estimates of developmental milestone attainment using a nonparametric approach and to compare these results with previously reported generalized linear mixed-effects model (GLMM) estimates. Methods: We reanalyzed developmental data from 842 children with Down syndrome (ages 2 months to 24 years). For each milestone, achievement rates were calculated within overlapping 0.5-year time windows, and shape-constrained additive models were used to derive monotonic regression curves. Results: Compared with GLMM-based estimates, the nonparametric approach predicted milestone attainment at least 1 year earlier for 17 of 25 milestones at the highest comparable percentile. Early gross motor milestones showed consistent achievement patterns across methods, whereas more complex adaptive, language, and academic skills demonstrated greater variability and were more sensitive to modeling assumptions. Females achieved 17 of 25 milestones at least 1 year earlier than males. Conclusions: These findings highlight substantial developmental heterogeneity and support the potential for continued skill acquisition throughout childhood and adolescence in individuals with Down syndrome. The updated estimates provide clinically relevant reference points to guide individualized monitoring, anticipatory guidance, and family counseling.

TÍTULO / TITLE: - The effectiveness of resilience training on coping strategies and well-being of mothers of children with down syndrome

REVISTA / JOURNAL: - J Pediatr Nurs. 2026 Aug 6:91:27-35. doi: 10.1016/j.pedn.2026.07.030. Online ahead of print.

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AUTORES / AUTHORS: - Fatemeh Akhlaghi et al

INSTITUCIÓN / INSTITUTION: - M.Sc. Student in Pediatric Nursing, Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran; Department of Pediatric and Neonatal Intensive Care Nursing, Razi Faculty of Nursing and Midwifery, Kerman University of Me

RESUMEN / SUMMARY: - Objective and background: Down syndrome, a chromosomal disorder, requires long-term care, which can reduce maternal well-being and hinder effective coping. This study aimed to determine the impact of resilience training on coping strategies and well-being of mothers of children with Down syndrome. Methods: This randomized controlled trial included 60 mothers from Down Syndrome Association (2025). After consent and matching, they were randomly assigned to intervention (n = 30) or control (n = 30) groups. The intervention group received nine 60-min resilience training sessions over two months; the control group received none. Data were collected using the Billings and Moos Coping Strategies Scale and the WHO-5 Well-being Index before and after the intervention. Analysis used SPSS-22. Results: The intervention group s total coping score decreased non-significantly (45.96 to 44.03). The control group s score increased significantly (42.6 to 51.1). All coping subscales improved significantly in the intervention group. Well-being increased significantly in both groups (intervention: 16.06 to 26.86; control: 14.3 to 21.9). Analysis of covariance showed significant post-intervention differences in total coping, its dimensions, and well-being between groups. Conclusions: Resilience training effectively enhances adaptive capacity and quality of life in mothers of children with Down syndrome. The significant improvements in coping strategies and well-being highlight the program s potential as an evidence-based intervention for this vulnerable population. Practice implications: Pediatric nurses can implement resilience training in Down syndrome support centers and outpatient clinics to improve maternal well-being and coping strategies. Integrating such training into pediatric nursing curricula and family-centered protocols is recommended to provide sustainable support for families.

TÍTULO / TITLE: - Group-based aquatic exercise for adolescents with down syndrome; a pilot study

REVISTA / JOURNAL: - Disabil Rehabil. 2026 Jun 28:1-11. doi: 10.1080/09638288.2026.2691633. Online ahead of print.

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AUTORES / AUTHORS: - Ashley B Conklin et al.

INSTITUCIÓN / INSTITUTION: - The Department of Rehabilitation and Movement Sciences at Rutgers, The State University of New Jersey. Rutgers University, Newark, NJ, USA.

RESUMEN / SUMMARY: - Purpose: Adolescents with Down syndrome (ADS) have reduced physical activity (PA) levels compared to peers. Aquatic exercise may appeal to ADS because the aquatic environment allows for increased ease of movement and mobility. However, research surrounding group-based aquatic exercise programs for ADS is limited. The purpose of the study was to investigate the safety, feasibility, and preliminary outcomes of group-based aquatic exercise for ADS. Materials and methods: Nine ADS, participated in a twice-weekly, one-hour group-based aquatic exercise class over eight weeks. Safety was assessed via heart rate monitoring and critical incidents. Feasibility was assessed through program adherence and parent perception of convenience. Outcome measures included the timed up-and-go test (TUG), five-repetition sit-to-stand test (FRSTST), six-minute walk test (6MWT), pediatric quality of life inventory (PedsQL TM), and a parent satisfaction survey. Scores were compared with pre- and post-intervention and at 4-week follow-up. Results: There were no critical safety incidents. Program adherence was > 85%. Improvements in the 6MWT and the PedsQL TM were found (p < .017). Improvements exceeding the minimal detectable change were obtained for the 6MWT, TUG, FRSTST, and PedsQL TM. Parent satisfaction was high. Conclusion: Group-based aquatic exercise may provide a safe, feasible and effective alternative to PA in ADS.

TÍTULO / TITLE: - Understanding Physical Activity Demands and Reported Perceptions of Fatigue in Children with Developmental Disabilities

REVISTA / JOURNAL: - Behav Sci (Basel). 2026 Jun 9;16(6):945. doi: 10.3390/bs16060945. Free PMC article.

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AUTORES / AUTHORS: - Kavya Iyer et al

INSTITUCIÓN / INSTITUTION: - Graduate Program in Translational Biology, Medicine, and Health, Virginia Tech, Blacksburg, VA 24060, USA.

RESUMEN / SUMMARY: - Children with developmental disabilities are less physically active and at increased risk for chronic conditions that physical activity might ameliorate. This study examined the relationships between the impact of physical activity (e.g., muscles burning, body tiredness), physical activity time and fatigue in children with Cerebral Palsy (CP) and Down Syndrome (DS) in comparison to typically developing (TD) children. A convenience sample of children and parents was enrolled. All children were between 4 and 10 years, ambulatory, medically stable, not taking sleep-aid medications and were either TD (n = 20) or diagnosed with CP (n = 14) or DS (n = 5). Children and parents separately answered questionnaires about participation in physical activity and fatigue during the past week, yielding retrospective data. Additionally, they completed prospective questionnaires for 3 consecutive days. Repeated measures multivariate and univariate analyses (post hoc) of variance, along with correlations between variables were completed. Analyses of retrospective data yielded no specific findings. Prospectively, all groups of parents reported that as the impact of physical activity increased, perceptions of fatigue decreased (r = -0.349; p < 0.001). Parents of children with Cerebral Palsy noted a negative relationship between the time spent doing physical activity and perceptions of fatigue (r = -0.553; p < 0.001). Between-group differences in perceptions of fatigue occurred for children with CP compared to TD (F = 8.248; p < 0.001). Parent-reported findings suggest potential associations between physical activity participation and perceptions of fatigue across diagnostic groups.

TÍTULO / TITLE: - Effects of a cognitive-motor dual-task exercise program versus exergaming on cognitive function in children with down syndrome: A single-blinded randomized trial

REVISTA / JOURNAL: - Psychol Sport Exerc. 2026 Sep:86:103190. doi: 10.1016/j.psychsport.2026.103190. Epub 2026 Jun 17.

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AUTORES / AUTHORS: - Maha F Algabbani et al.

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

RESUMEN / SUMMARY: - Children with Down syndrome (DS) often experience motor and cognitive delays. Dual-task (DT) interventions targeting both domains may offer a comprehensive strategy for cognitive enhancement. This study examined and compared the effects of cognitive-motor dual-task (CMDT) training and exergaming on cognitive performance in children with DS. Methods: Twenty-three children with DS, aged 8-14 years, took part in an 8-week study protocol. Assessments were conducted before and after the intervention, during Weeks 1 and 8, respectively. The intervention included twelve 45-min sessions held over six weeks (Week 2 to 7) from September to December 2024. Eleven received the exergaming protocol; twelve received CMDT training. Pre- and post-intervention assessments were conducted using the Cambridge Neuropsychological Test Automated Battery (CANTAB) adapted for DS. Outcomes included attention and psychomotor speed, memory, and executive function. Results: Significant time effects were observed for reaction time (p < 0.01, η2 = 0.31), error reduction (p = 0.01, η2 = 0.25), single-task errors (p = 0.01, η2 = 0.24), and side block errors (p = 0.05, η2 = 0.17): notably, all significant effects reflected positive improvements in attention and executive function over the course of the intervention. Both groups exhibited a significant increase in incongruency latency from pre-to post-intervention (p < 0.01, η2 = 0.33) No significant memory or group-by-time effects emerged. Conclusion: CMDT and exergaming produced comparable improvements in processing speed, attentional control, and inhibitory function, supporting their use in cognitively engaging physical activity programs. The study was registered on ClinicalTrials.gov (Identifier: NCT06146907).

TÍTULO / TITLE: - Parents Experiences and Expectations From Physiotherapy for Children With Down Syndrome: A Scoping Review

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 Jun;70(6):579-587. doi: 10.1111/jir.70088. Epub 2026 Feb 16.

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AUTORES / AUTHORS: - Fathimath Akhila, Asir John Samuel

INSTITUCIÓN / INSTITUTION: - Yenepoya Physiotherapy College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India

RESUMEN / SUMMARY: - Background: Physiotherapy plays a vital role in the care and development of children with Down syndrome (CDS), especially in addressing related health issues. Understanding caregivers perspectives on physiotherapy for CDS is essential for enhancing service delivery. This scoping review aims to synthesize research on parental experiences and expectations concerning physiotherapy for CDS. Method: Scoping review methodology follows the recommendations of Arksey and O Malley and the steps described by the Joanna Briggs Institute. A comprehensive search strategy was employed across four electronic databases: PubMed, Scopus, Web of Science and CINAHL, as well as relevant grey literature sources. Results: Out of the 97 studies screened, five met the inclusion criteria and were included in the review. Parents widely viewed physiotherapy as essential for their child s development, reporting benefits in motor skills, confidence and independence. However, they also faced challenges such as limited access, emotional strain and service dissatisfaction. Conclusions: This review enhances our understanding of the experiences and expectations of parents concerning physiotherapy for children with Down syndrome. It identifies important areas where future research and clinical practice can improve developmental outcomes and the quality of life for CDS.

TÍTULO / TITLE: - Mainstream or special secondary school for the health, education, and well-being of adolescents with Down syndrome: A systematic review

REVISTA / JOURNAL: - Dev Med Child Neurol. 2026 Jun;68(6):755-766. doi: 10.1111/dmcn.70066. Epub 2025 Nov 4. Free PMC art

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AUTORES / AUTHORS: - Julia Shumway et al.

INSTITUCIÓN / INSTITUTION: - Great Ormond Street Institute of Child Health, University College London, London, UK

RESUMEN / SUMMARY: - Aim: To systematically examine evidence on the impact of attending mainstream compared with special secondary school for adolescents with Down syndrome, in terms of health, education, and well-being outcomes. Method: We searched four bibliographic databases for studies comparing education and health (including social and self-care) outcomes in adolescents with Down syndrome who attended mainstream secondary school to those attending special secondary school. Results: Of 4458 publications, we identified three studies from the UK and the Netherlands, which involved 246 adolescents with Down syndrome: 49 attended mainstream and 197 attended special secondary school. Of three studies examining education outcomes, two reported improved attainment among adolescents attending mainstream school, but both were at risk of bias from participant selection, missing data, and deviations to the intended intervention. One study reported social and self-care outcomes, with no significant differences. No studies reported health outcomes. Studies provided only cursory information about teaching support. Interpretation: Parents, policy-makers, and others who make choices about education for adolescents with Down syndrome lack evidence on whether outcomes differ, on average, between mainstream and special secondary schools. Well-designed studies are needed to quantify the impact of secondary school type on outcomes among adolescents with Down syndrome.

TÍTULO / TITLE: - Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course

REVISTA / JOURNAL: - Pediatr Ann. 2026 Jul;55(7):e252-e259. doi: 10.3928/19382359-20260317-02. Epub 2026 Jul 1.

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AUTORES / AUTHORS: - Rudaina Banihani, Michael E Msall

INSTITUCIÓN / INSTITUTION: - Newborn & Developmental Paediatrics, Sunnybrook Health Sciences Centre, Department of Paediatrics, Division of Developmental Paediatrics, University of Toronto, Toronto, Ontario, Canada.

RESUMEN / SUMMARY: - There is increasing recognition that intellectual developmental disabilities are best understood through strengths, everyday functioning, and participation rather than through deficits or predicted limitations. The "F-Words" framework (ie, Function, Family, Fitness, Fun, Friends, Future) translates the World Health Organization s International Classification of Functioning, Disability and Health into language that is meaningful for clinicians and families. Using three common pediatric scenarios (eg, Down syndrome, fetal alcohol spectrum disorder, prematurity), this review shows how early counseling and interdisciplinary support can shift care from prediction to enablement-focused participation. These early global developmental delay conditions are commonly accompanied by uncertainty and deficit-based prognostic framing. A function- and participation-focused approach supports clinically useful goal setting, reduces diagnostic overshadowing and stigma, and improves alignment with family priorities. We propose practical, clinically applicable principles for enablement counseling and collaboration across health, education, and community systems to support belonging and quality of life across the life course.