Aging - Envejecimiento

TÍTULO / TITLE: - Characterizing circadian rest-activity rhythm patterns across Alzheimers disease continuum in Down syndrome

REVISTA / JOURNAL: - Alzheimers Dement. 2026 May;22(5):e71409. doi: 10.1002/alz.71409. Free PMC article.

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AUTORES / AUTHORS: - Sandra Gimenez et al.

INSTITUCIÓN / INSTITUTION: - Multidisciplinary Sleep Unit, Respiratory Department, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant, Pau (IIB SANT PAU), Barcelona, Spain.

RESUMEN / SUMMARY: - Introduction: Sleep and circadian rest-activity rhythm (RAR) disruption may bidirectionally relate to Alzheimers disease (AD). Down syndrome (DS), the most common genetic cause of AD, presents sleep disorders, yet RAR patterns across the DS-associated AD continuum remain uncharacterized. Methods: We analyzed 7-day wrist actigraphy in 140 adults with DS (108 asymptomatic; 32 AD dementia) and 41 unimpaired controls. General linear models, adjusted for age, sex, sleep efficiency, and obstructive sleep apnea (OSA) severity, tested group differences, with interaction terms included to evaluate group-specific associations. Results: DS showed lower relative amplitude and higher nocturnal activity, already in asymptomatic individuals. Rhythm strength declined further with AD progression, while regularity and phase timing remained preserved until dementia. Findings were independent of sleep duration and OSA. Discussion: Adults with DS showed early RAR disturbance that progressed across the AD continuum, paralleling sporadic AD. Circadian RAR features may be scalable biomarkers of AD progression.

TÍTULO / TITLE: - Progressive myoclonus epilepsy in Down syndrome with Alzheimers disease: An 11-year longitudinal study and proposed diagnostic red flags

REVISTA / JOURNAL: - Epilepsia Open. 2026 May 21. doi: 10.1002/epi4.70277. Online ahead of print. Free article

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AUTORES / AUTHORS: - Giuseppe dOrsi et al.

INSTITUCIÓN / INSTITUTION: - Neurology Unit - Epilepsy Center, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

RESUMEN / SUMMARY: - Objective: Individuals with Down syndrome (DS) face an ultra-high risk of Alzheimers disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long-term natural history and pathological substrate. Methods: We conducted an 11-year longitudinal study of the original cohort of 12 DS patients with PME. Clinical progression was monitored via a three-stage model. Two additional illustrative cases (aged 50 and 58 years) underwent 18F-Flutemetamol PET to document in vivo amyloid load. Results: The study reached a 100% mortality rate. Median survival from myoclonus onset was 4.2 years (95% CI: 3.8-4.6). All patients progressed to the terminal phase within 2.5 ± 1.1 years. Both Amyloid-PET-scanned patients revealed a massive cortical burden (Global Z-scores up to 11.55). Iatrogenic clinical worsening due to sodium channel blockers or phenobarbital was observed in 38% of cases. The high uniformity of these findings allowed for the proposal of diagnostic criteria based on a mandatory DS-AD association, a core clinical triad (myoclonus, ataxia, seizures), and supportive biomarkers. PME-DS appears to be driven by an amyloid-related excitatory-inhibitory imbalance. Massive amyloid-beta deposition in motor cortices impairs GABAergic interneurons, triggering cortical hyperexcitability. Thus, the onset of myoclonus serves as a functional marker of peak amyloid burden and terminal neurodegeneration. Significance: PME-DS with AD represents a severe electroclinical phenotype within the AD-DS continuum, likely overlapping with the widely recognized LOMEDS (Late-Onset Myoclonic Epilepsy in Down Syndrome). Myoclonus onset serves as a definitive "red flag" of a severe amyloid-driven excitatory-inhibitory imbalance and peak cortical burden, predicting rapid progression to terminal stage (median survival 4.2 years). Standardizing the proposed

TÍTULO / TITLE: - Application of machine learning to blood-based biomarkers of Alzheimers disease in Down syndrome

REVISTA / JOURNAL: - Alzheimers Dement (Amst). 2026 Apr 6;18(2):e70325. doi: 10.1002/dad2.70325. eCollection 2026 Apr-Ju

Enlace a la Editora de la Revista Patrick H Luckett et al.

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: - Division of Neurotechnology Department of Neurological Surgery Washington University School of Medicine St. Louis Missouri USA.

RESUMEN / SUMMARY: - Introduction: Blood-based biomarkers can improve Alzheimers disease (AD) characterization in Down syndrome (DS). This study applied hierarchical clustering and machine learning-based feature selection to identify biomarkers associated with disease progression. Methods: Cross-sectional blood-based biomarkers were analyzed from 211 DS participants (n = 79 cognitively stable [CS]; n = 72 mild cognitive impairment [MCI]; n = 60 AD dementia [DS-AD]). These included markers of amyloid, tau, neurodegeneration, and inflammation. Clustering grouped biomarkers. Decision trees classified disease stage, and Shapley values identified the strongest predictors of disease stage. Results: The strongest predictors overall were neurofilament light chain (NfL), tau/amyloid beta (Aβ)40, Aβ42/Aβ40, alpha-2-macroglobulin (A2M), and interleukin (IL)-10. Within the CS group, NfL, tau/Aβ40, A2M, and IL-10 were strong predictors. In MCI, Aβ42/Aβ40, NfL, A2M, and IL-10 were strong predictors. In DS-AD, Aβ42/Aβ40, NfL, and tau/Aβ40 were the top predictors. Cluster membership varied based on disease stage. Discussion: These findings reveal evolving biomarker signatures and clustering patterns across cognitive stages, underscoring their potential for disease monitoring.

TÍTULO / TITLE: - The association between APOE 𝜀4 carrierships and the detection of amyloid positivity using an Alzheimers disease proteomic blood test in asymptomatic Down syndrome

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Apr;22(4):e71338. doi: 10.1002/alz.71338. Free PMC article.

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AUTORES / AUTHORS: - Lubnaa Badriyyah Abdullah et al.

INSTITUCIÓN / INSTITUTION: - Department of Family Medicine, UNT Health Fort Worth, Fort Worth, Texas, USA.

RESUMEN / SUMMARY: - Introduction: This study evaluates plasma-based proteomic profiles for predicting amyloid positivity in adults with Down syndrome (DS) and examines the impact of apolipoprotein E ε4 (APOE ε4) on test performance. Methods: Cross-sectional data from 290 adults with DS were analyzed using single molecule array (SIMOA) technology to measure plasma amyloid beta (Aβ)42, Aβ40, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), tau phosphorylated at threonine 181, and total tau. Amyloid burden was quantified using Pittsburgh Compound B and (18)F-florbetapir Aβ positron emission tomography. Support vector machine analyses were conducted with biomarkers as predictors and age, sex, and APOE ε4 carrier status as covariates. Results: Age, GFAP, and NfL contributed the most to the model performance. The proteomic profile achieved an area under the curve (AUC) of 96% in models with and without APOE ε4. Discussion: These findings suggest that plasma proteomic biomarkers can effectively identify amyloid positivity in adults with DS and may support clinical triage, monitoring, and selection for clinical trials, independent of APOE ε4 status.

TÍTULO / TITLE: - Cerebrospinal fluid and frontal cortex TMPRSS2 and ACE2 protein levels differ in Down syndrome and Alzheimers disease

REVISTA / JOURNAL: - Acta Neuropathol Commun. 2026 Apr 9;14(1):113. doi: 10.1186/s40478-026-02289-9. Free PMC article.

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AUTORES / AUTHORS: - Carlos Aviles-Granados et al.

INSTITUCIÓN / INSTITUTION: - Instituto de Neurociencias de Alicante, Universidad Miguel Hernandez-CSIC, Av. Ramon y Cajal s/n, San Joan dAlacant, E-03550, Spain

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) and Alzheimers disease (AD) are vulnerable to COVID-19, but whether alterations in ACE2, the viral receptor, and TMPRSS2, the spike-priming protease for SARS-CoV-2, differ between these disorders is unknown. We analyzed cleaved fragments and full-length species of ACE2 and TMPRSS2 in the cerebrospinal fluid (CSF) from non-infected individuals with DS (n = 9) without memory decline (nDS), DS with dementia (dDS; n = 10) and aged matched controls (n = 10). CSF levels were compared to levels in frozen postmortem frontal cortex in nDS (n = 4), dDS (n = 8) and 11 controls using quantitative fluorescent western blotting. We also examined CSF (19 AD and 19 age-matched non-AD controls) and frontal cortex from 30 AD cases and 7 non-disease controls. CSF and frontal cortex TMPRSS2 full-length zymogen and active protease-domain fragment were significantly increased in nDS, but not in dDS despite elevated zymogen. In contrast, AD CSF and frontal cortex levels of the TMPRSS2 protease fragment and zymogen remained unchanged. Regarding the viral receptor, an ~ 80 kDa fragment of ACE2 was significantly reduced in nDS CSF compared to controls, whereas there was a significant decrease in an ACE2 fragment/full-length quotient in both nDS and dDS. In frontal cortex, full-length ACE2 levels were preserved in nDS compared to controls, but several ACE2 species (120 and 110 kDa full-length, and 80 kDa fragment) were significantly decreased in dDS compared to nDS and controls. In contrast, CSF ACE2 130 kDa full-length levels were decreased compared to an increase in the fragment/full-length ratio in AD compared to controls, opposite to DS. In AD, frontal cortex levels of the 150 kDa ACE2 full-length species was significantly reduced across all Braak stages. ACE2 immunohistochemistry and immunofluorescence of frontal cortex sections revealed positive puncta in the neuropil, astrocytes and blood vessels in AD and DS with or without dementia. Overall, we foun

TÍTULO / TITLE: - MALDI mass spectrometry imaging (MSI) reveals molecular and structural heterogeneity of amyloid-β in sporadic Alzheimers disease and Down syndrome

REVISTA / JOURNAL: - Acta Neuropathol Commun. 2026 Apr 2;14(1):87. doi: 10.1186/s40478-026-02280-4. Free PMC article.

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AUTORES / AUTHORS: - Karolina Minta et al.

INSTITUCIÓN / INSTITUTION: - BioArctic AB, Warfvinges Väg 35, 112 51, Stockholm, Sweden

RESUMEN / SUMMARY: - Alzheimers disease (AD) and Down syndrome (DS) are both characterized by early accumulation of amyloid-β (Aβ), but the underlying mechanisms differ. In DS, lifelong overproduction of Aβ due to triplication of the APP gene drives pathology, whereas in sporadic AD (sAD) impaired clearance and altered processing are considered to be major contributors to Aβ pathology. Despite these shared hallmarks, it remains unclear whether the molecular composition of plaques, such as Aβ isoform distribution and post-translational modifications, is truly comparable between the two conditions. Most published studies rely on bulk tissue or antibody-based methods, which average across plaques and overlook truncated or modified Aβ isoforms, such as N-terminally or C-terminally truncated forms or pyroglutamate-modified species. Here, we applied a reflector-mode matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) approach, integrated with histology and immunoassay, to characterize Aβ pathology in postmortem brain tissue from DS, sAD, and non-demented control patients at single-plaque resolution. We demonstrate that Aβ plaques and neurofibrillary tangles are significantly larger in DS than in sAD, consistent with more aggressive disease progression. Molecular profiling revealed distinct peptide repertoires between the diseases. DS plaques contained nearly twice as many N-terminally truncated Aβ peptides as sAD, with proportionally similar contributions from Aβx-40 and Aβx-42, and uniquely harbored Aβ2-42, AβpE3-42, Aβ3-40, Aβ4-42, Aβ8-42, and AβpE11-40/42. In contrast, sAD plaques were dominated by truncated Aβ40 while Aβ42 remained largely full-length, and only sAD contained bi-terminally truncated isoforms such as Aβ2-37, Aβ2-39, and Aβ9-38. Overall, inter-peptide correlations between the relative abundances of all Aβ peptides as performed acros

TÍTULO / TITLE: - Frequency of mixed neuropathologies in individuals with down syndrome with and without Alzheimers dementia

REVISTA / JOURNAL: - Acta Neuropathol. 2026 May 15;151(1):55. doi: 10.1007/s00401-026-03028-z.

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AUTORES / AUTHORS: - Lisi Flores-Aguilar et al.

INSTITUCIÓN / INSTITUTION: - Department of Pathology and Laboratory Medicine, University of California Irvine, Irvine, CA, 92697, USA.

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) develop Alzheimers disease neuropathological change (ADNC) by the age of 40 years, and most develop dementia by their early 50s. The frequency of co-pathologies in clinically and neuropathologically characterized adults with DS has not been systematically characterized. We characterized the frequency of ADNC and common co-pathologies, including cerebral amyloid angiopathy (CAA), Lewy pathology (LP), limbic predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC), hippocampal sclerosis (HS), and other cerebrovascular and macroscopic findings reported in standardized National Alzheimers Coordinating Center (NACC) neuropathology forms in 63 adults with DS over 40 years. A secondary exploratory objective was to compare the neuropathological profiles between individuals with (n = 55) and without (n = 8) dementia from the same autopsy cohort. In the full autopsy cohort, cortical and hippocampal atrophy, and moderate-to-severe locus coeruleus hypopigmentation was a common finding. Pure ADNC, was present in only 29% of individuals. CAA was the most frequent co-pathology, present in approximately 84% of individuals followed by LP (21%), HS (19%), and LATE-NC (17%). Atherosclerosis and arteriolosclerosis were infrequent. In exploratory comparisons between dementia groups, brain weight was significantly lower in individuals with dementia than in those without (900 ± 116 vs 1060 ± 108 g P = .0006), and severe hippocampal atrophy and locus coeruleus hypopigmentation were more frequent in those with dementia (P = .049, P = .009, respectively). Advanced Braak NFT stage, frequent neuritic plaques, and high ADNC were more frequent in individuals with dementia (P = .0001, P = .03, P = .0016, respectively). LATE-NC and HS occurred exclusively in individuals with dementia, while LP and CAA were found in both groups. Individuals without dementia showed a less complex co-pathology profile than those with dementia. Our findings d

TÍTULO / TITLE: - The forgotten population: Early-onset Alzheimers in people with Down syndrome

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Apr;22(4):e71311. doi: 10.1002/alz.71311. Free PMC article.

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AUTORES / AUTHORS: - Michelle Cristina Oliveira

INSTITUCIÓN / INSTITUTION: - Institute of Psychiatry (IPq), LIM27, University of Sao Paulo (USP), Sao Paulo, Sao Paulo, Brazil.

RESUMEN / SUMMARY: - In recent decades, Alzheimers disease has increasingly been discussed through narratives of prevention, resilience, and delayed onset. For individuals with Down syndrome, however, Alzheimers disease is not a distant possibility, but an almost predictable consequence of increased longevity. The substantial rise in life expectancy in this population represents one of the greatest achievements of modern medicine. At the same time, it has exposed a profound biological vulnerability, as most individuals with Down syndrome will develop Alzheimers disease-related neuropathology decades earlier than the general population. Although Down syndrome constitutes the most common genetic cause of Alzheimers disease, these individuals remain largely excluded from prevention strategies, clinical trials, and global dementia agendas. This Viewpoint argues that such persistent invisibility does not reflect a lack of scientific relevance, but rather a systemic failure to align biological certainty with ethical responsibility. By highlighting the unique trajectory of Alzheimers disease in Down syndrome, as well as the social, familial, and caregiving implications of early cognitive decline, this article calls for a necessary shift in perspective: from longevity celebrated as an endpoint to longevity recognized as an obligation to ensure inclusion, dignity, and meaningful support. If efforts to confront Alzheimers disease are to be genuine, they must begin by including those who have lived with its burden the longest, often in silence.

TÍTULO / TITLE: - Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimers disease

REVISTA / JOURNAL: - Alzheimers Dement. 2026 Apr;22(4):e71404. doi: 10.1002/alz.71404. Free PMC article.

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AUTORES / AUTHORS: - Cliona Farrell et al

INSTITUCIÓN / INSTITUTION: - UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK.

RESUMEN / SUMMARY: - Introduction: The recent development and licensing of anti-amyloid-β monoclonal antibodies for the treatment of early-stage Alzheimers disease have significantly shifted the clinical landscape. However, current use recommendations preclude the administration of these new drugs to persons who have Down syndrome. Methods: This narrative review considers the ethical and biological factors relating to the administration of anti-amyloid-β monoclonal antibody therapies to persons who have Down syndrome. Literature was selected based on relevance. Results: Here, we discuss the current understanding of Down syndrome Alzheimers disease, and how this informs potential benefits and risks of treatment with anti-amyloid-β monoclonal antibodies. Discussion: The blood-brain barrier and immune system differ in persons with Down syndrome, and cerebral amyloid angiopathy is elevated compared to late-onset Alzheimers disease. Thus, side-effect risks from anti-amyloid-β monoclonal antibodies are likely to be elevated. Further research is needed to facilitate the treatment of persons with Down syndrome with these new therapies.

TÍTULO / TITLE: - (Alzheimers) dementia in adults with Down syndrome in Germany: Administrative prevalence based on a claims data analysis

REVISTA / JOURNAL: - J Alzheimers Dis. 2026 May 15:13872877261449417. doi: 10.1177/13872877261449417. Online ahead of pr

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AUTORES / AUTHORS: - Milena Weitzel et al.

INSTITUCIÓN / INSTITUTION: - Institute for Health Care Management and Research, University of Duisburg-Essen, Essen, Germany.

RESUMEN / SUMMARY: - BackgroundPeople with Down syndrome (DS) have a significantly increased risk of developing early-onset Alzheimers disease. For example, a longitudinal study by McCarron et al. (2017) found that 97% of a cohort of 77 DS patients aged 35 years and older developed dementia. Despite this high risk, administrative data on dementia prevalence in this population remain limited.ObjectiveThis study examines whether the diagnosed prevalence is lower than expected based on epidemiological data and explores differences compared to the general population.MethodsA comparative analysis of administrative dementia prevalence (2010-2019) was conducted using claims data for adults with and without DS. Prevalence rates were calculated by age and sex. Chi-square tests were applied to assess significance (p < 0.05), with Cramers V and Phi as measures of association. Odds ratios were calculated to evaluate group differences.ResultsTotal administrative dementia prevalence was significantly higher in adults with DS (Mean Value (MV) 9.2% ± 1.7% (Standard Deviation (SD))) than those without DS (MV 3.2% ±0.3% (SD)). Age- and sex-specific analyses also revealed notable differences. For example, in the 56-60 years age group, prevalence was MV 28.7% ± 4.6% (SD) in adults with DS versus MV 0.7% ± 0.1% (SD) in those without DS.ConclusionsAlthough administrative dementia prevalence is higher among adults with DS than those without DS, observed rates appear lower than expected based on existing epidemiological data. This suggests a potential underdiagnosis of dementia in the DS population in Germany.

TÍTULO / TITLE: - The Combined Role of Cognitive, Plasma, Volumetric and EEG Markers Along the Alzheimers Disease Continuum in Down Syndrome

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 May 15. doi: 10.1111/jir.70120. Online ahead of print.

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AUTORES / AUTHORS: - Javier Garcia-Alba et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology in Education and Research, Complutense University of Madrid, Madrid, Spain

RESUMEN / SUMMARY: - Background: The validation of noninvasive markers for the early detection of Alzheimers disease (AD) in Down syndrome (DS) is a crucial goal within this population. DS patients are characterised by their overall vulnerability and, particularly, by their high risk of developing AD due to genetic conditions. Considering this background, in this study, we analysed the benefits that a combination of markers might yield in such detection. Methods: Sixty-two participants (35 females, 27 males) with DS (age > 45 years) distributed in three groups (asymptomatic [ADS], prodromal [PDS] and dementia [DDS]) underwent clinical and neuropsychological evaluation, together with the assessment of brain volumetry, plasma (neurofilament light and p-tau217), genetic (APOE4) and EEG markers. Results: Regression analyses demonstrated the key role of p-tau217 among the studied biomarkers. However, the inclusion of p-tau217 failed to produce any significant improvement in the diagnostic model based on verbal memory tasks. This model correctly classified 88.0% of the ADS patients, 75.0% of the PDS patients and 93.8% of the DDS patients. In addition, a strong correlation was observed between p-tau217, delta power, volumetric scores and memory performance. Conclusions: Our findings suggested that, even when controlling the effect of elevated p-tau217 levels, the role of memory markers is essential to assist in AD diagnosis within the DS population. The combination of cognitive and plasma markers for the detection of prodromal AD cases in DS appeared to be highly effective. This is especially relevant after the recent FDAs approval of plasma markers such as ptau-217 for the diagnosis of AD.

TÍTULO / TITLE: - Immediate and Underlying Causes of Death and Survival Rates in Aging Adults With Down Syndrome

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 May;39(3):e70246. doi: 10.1111/jar.70246. Free PMC article.

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AUTORES / AUTHORS: - T I M Hilgenkamp et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, University of Nevada, Las Vegas, Nevada, USA.

RESUMEN / SUMMARY: - Background: To describe immediate and underlying causes of mortality (using ICD-10 codes) and survival rates of aging adults with Down syndrome (Ds). Method: This secondary analysis used the Healthy Aging and Intellectual Disabilities cohort. Adults with Ds (n = 149, ≥ 50 years at baseline) were matched 1:1 to adults with intellectual disabilities without Ds on age, sex and level of intellectual disability. Follow-up was ~10 years post-baseline, or at death. Results: The most common immediate and underlying causes of death in adults with Ds were respiratory diseases/infections, followed by cardiovascular disease and neuropsychiatric conditions. Unknown causes accounted for 29%-50% of deaths. Adults with Ds had higher mortality than matched comparators (HR = 5.05, 95% CI 3.10-7.47), increasing significantly with each year of age (HR = 1.08/year, 95% CI 1.04-1.11). Conclusion: Respiratory diseases, cardiovascular and neuropsychiatric conditions are important contributors to mortality in older adults with Ds, but large numbers of missing causes warrant cautious interpretation.

TÍTULO / TITLE: - Circadian Rest-Activity Rhythms, Cognition, and Alzheimer Disease Dementia in Adults With Down Syndrome

REVISTA / JOURNAL: - Neurology. 2026 May 26;106(10):e214938. doi: 10.1212/WNL.0000000000214938. Epub 2026 May 7.

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AUTORES / AUTHORS: - Paul A Chung et al.

INSTITUCIÓN / INSTITUTION: - Center for Circadian and Sleep Medicine, Division of Sleep Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

RESUMEN / SUMMARY: - Background and objectives: There is a paucity of research on the role of circadian rhythm disruption in Alzheimer disease (AD)-related cognitive impairments in adults with Down syndrome (DS). The aim of this study was to examine the association of the 24-hour rest-activity rhythm with cognition, dementia symptoms, and clinical AD status in adults with DS. Methods: In this cross-sectional study, adults with DS aged 25-61 years in the Alzheimers Biomarkers Consortium-Down Syndrome underwent wrist-worn actigraphy (≥4 days) and cognitive assessment. Primary variables included interdaily stability, intradaily variability, relative amplitude, most active 10-hour period (M10), and least active 5-hour period (L5). Secondary measures included coefficient of variation of total sleep time, sleep midpoint, sleep efficiency, and the sleep regularity index. Cognitive outcomes included modified Cued Recall Test (mCRT), Wechsler Block Design with Haxby Extension (Block Design), Purdue Pegboard, Cat and Dog Modified Stroop Task, DS Mental Status Examination (DSMSE), National Task Group-Early Detection Screen for Dementia (NTG-EDSD), Dementia Questionnaire for People with Learning Disabilities (DLD), and clinical AD status based on a case consensus process (stable vs mild cognitive impairment [MCI]/dementia). Linear and logistic regression models were adjusted for age, sex, intellectual disability level, site, and obstructive sleep apnea severity, with false discovery rate (FDR) correction. Results: Of 115 participants (mean age 40.0 ± 9.2 years; 43.5% female), higher interdaily stability was associated with higher DSMSE scores B = 20.6 (95% CI 5.0-36.2). Higher intradaily variability was associated with worse cognitive performance and increased dementia symptoms: mCRT B = -9.2 (95% CI -15.2 to -3.1), Block Design B = -11.0 (95% CI -19.0 to -3.0), DSMSE B = -12.0 (95% CI -20.1 to -3.9), and DLD-cognitive B = 6.3 (95% CI 3.0-10.5). Lower M10 was associated with increased demen

TÍTULO / TITLE: - Tetanus, diphtheria and pertussis vaccination and risk for incident dementia among adults with down syndrome

REVISTA / JOURNAL: - J Prev Alzheimers Dis. 2026 May 5;13(7):100583. doi: 10.1016/j.tjpad.2026.100583. Online ahead of p

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AUTORES / AUTHORS: - Kimberly Schiel et al.

INSTITUCIÓN / INSTITUTION: - Department of Family and Community Medicine, Saint Louis University School of Medicine, 1008 S. Spring, St. Louis, MO 63110 USA.

RESUMEN / SUMMARY: - Background: Adult vaccination is inversely associated with incident Alzheimers Disease and Related Dementias. Objectives: We determined if Tetanus, Diphtheria and Pertussis (Tdap) vaccination was linked to incident Alzheimers Disease and dementia among adults with Down Syndrome, 50% of whom develop Alzheimers Disease by age 60. Design: This is a retrospective cohort study using TriNetX nationally distributed electronic health records from 2013 to 2024. Setting: Historical medical record data. Participants: 5591 patients with Down Syndrome across the United States. Eligible patients were free of Alzheimers Disease and dementia prior to index. Index date could occur 1/1/2015 to 1/1/2020 allowing for 5 to 10 years of possible follow-up time. Measurements: Vaccination was measured using product name and procedure codes and Alzheimers Disease and dementias was defined by ICD-10 codes. Results: The mean age of the cohort was 50.0 (±8.3), 50.1% were female and 72.1% were White. After controlling for confounding, Tdap vaccination vs. remaining without Tdap vaccination was associated with lower Alzheimers Disease and dementia risk (HR=0.74; 95%CI:0.57-0.98). Conclusions: In a cohort of patients with Down Syndrome, Tdap vaccination was associated with a 26% lower risk for Alzheimers Disease and dementia. This is a novel and important finding because existing studies of vaccination and reduced risk for Alzheimers Disease and dementia have been among cognitively intact adults. This study reveals benefits of vaccination even among those at high risk for Alzheimers Disease and dementia due to Down Syndrome. Future studies are needed to understand the mechanisms underlying this relationship.

TÍTULO / TITLE: - Epigenetically constrained astrocyte states underlie prefrontal cortex vulnerability in Down syndrome-associated Alzheimers disease

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Apr 21:2026.04.17.719050. doi: 10.64898/2026.04.17.719050. Free PMC artic

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AUTORES / AUTHORS: - Chuhanwen Sun et al

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy 21, confers a near-universal risk for Alzheimers disease (AD), yet individuals exhibit marked variability in cognitive decline, suggesting the presence of cellular mechanisms that modulate vulnerability and resilience. However, these mechanisms remain poorly defined in the human brain. Here, we integrate matched single-nucleus RNA-seq and ATAC-seq profiles from the prefrontal cortex (PFC) and amygdala (AMY) of age-matched individuals with DS with and without AD (DSAD), enabling direct comparison within a shared genetic background. We identify basal astrocytes in the PFC as a selectively vulnerable cell state in DSAD, characterized by both reduced abundance and coordinated transcriptional and regulatory reprogramming. This state exhibits a shift away from homeostatic support functions, with decreased cytokine signaling and lipid-handling programs, alongside increased steroid- and nuclear receptor-associated activity. Concomitantly, chromatin accessibility profiling reveals reduced engagement of immune- and stress-responsive transcription factor programs, including AP-1, STAT, and BACH families, with linked regulatory perturbations at loci such as ABCA1, DAB2IP, and IL1RAP. Together, these findings define a previously unrecognized astrocyte state marked by epigenetic constraint and diminished responsiveness to stress and inflammatory signals, distinguishing it from classical reactive astrocyte phenotypes. Our results nominate PFC basal astrocytes as a key locus of vulnerability in DSAD and suggest that failure to mount appropriate astrocyte responses, rather than overt activation alone, may contribute to neurodegenerative progression.

TÍTULO / TITLE: - Can Targeting Circadian Rhythms Help Prevent Alzheimer Disease?: Lessons From Down Syndrome

REVISTA / JOURNAL: - Neurology. 2026 May 26;106(10):e218086. doi: 10.1212/WNL.0000000000218086. Epub 2026 May 7.

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AUTORES / AUTHORS: - Yi Fang , Yue Leng

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry and Behavioral Sciences, University of California, San Francisco

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Common pathogenic mechanisms in the hippocampus across neurodegenerative dementias: Alzheimers disease, Down syndrome, and Parkinsons disease

REVISTA / JOURNAL: - NPJ Dement. 2026;2(1):32. doi: 10.1038/s44400-026-00075-x. Epub 2026 Apr 29. Free PMC article.

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AUTORES / AUTHORS: - Rene A J Crans et al.

INSTITUCIÓN / INSTITUTION: - Center for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Barcelona, Spain.

RESUMEN / SUMMARY: - Extensive evidence suggests overlapping pathological mechanisms in the brain of individuals with Parkinsons disease dementia, Down syndrome dementia, and Alzheimers disease. For these neurodegenerative dementias, we observed that the chronological age did not align with their biological age, which was determined based on hippocampal transcript levels (i.e., transcriptional age). Subsequently, we performed a transcriptomic analysis that corrected for the transcriptional age in the hippocampus of affected individuals, highlighting common underlying pathogenic mechanisms. There were 45 common differentially expressed genes (DEGs), whereas enriched functional terms were related to lysine N-methyltransferase activity and intermediate filament. Co-expression network analysis displayed a module that was significantly downregulated in the non-demented control group only. This module identified EHMT2 and LMNB2 as hub genes, which were also common DEGs. Overall, these findings uncover shared functional insights in the hippocampus, while specifically highlighting EHMT2 and LMNB2 as potential universal biomarkers or disease-altered targets across neurodegenerative dementias.

TÍTULO / TITLE: - Tau pathology in Down syndrome: Amyloid precursor protein gene and sex effects

REVISTA / JOURNAL: - Neural Regen Res. 2026 Apr 14. doi: 10.4103/NRR.NRR-D-25-01686. Online ahead of print. Free article

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AUTORES / AUTHORS: - Xu-Qiao Chen

INSTITUCIÓN / INSTITUTION: - Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.

RESUMEN / SUMMARY: -

Cardiology - Cardiología

TÍTULO / TITLE: - Inpatient hospitalizations in adults with congenital heart disease and down syndrome: A national perspective

REVISTA / JOURNAL: - Int J Cardiol Congenit Heart Dis. 2026 Apr 16:24:100674.doi:10.1016/j.ijcchd.2026.100674.Free art.

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AUTORES / AUTHORS: - Kevin Tabibian et al.

INSTITUCIÓN / INSTITUTION: - Cardiovascular Outcomes Research Laboratories (CORELAB), David Geffen School of Medicine at University of California, Los Angeles, CA, USA.

RESUMEN / SUMMARY: - Background: Adults with Down syndrome (DS) have a greater likelihood of being diagnosed with congenital heart disease (CHD) and may face unique cardiovascular, respiratory, and immunologic health burdens during hospitalization. While CHD survival has improved in recent decades, national data on hospitalization outcomes of patients diagnosed with DS remain limited. Objectives: The present study aimed to evaluate trends in hospital admissions, inpatient management, and perioperative outcomes stratified by the presence of DS among CHD patients. Methods: This was a retrospective cohort of the 2016-2022 National Inpatient Sample. All adult (18-64 years) hospitalizations with a diagnosis of congenital heart disease, were tabulated using previously validated International Classification of Diseases diagnosis codes. Our Primary outcome of interest was in-hospital mortality. Secondary endpoints included temporal trends in admissions, utilization of various cardiac procedures, and length of stay. Results: Of an estimated 54,410 CHD patients hospitalized, 3745 (6.9%) had diagnosis of DS. During the study period, annual CHD admissions increased (nptrend<0.05), while the proportion of those with DS remained stable (6.6% to 6.2%, 2016-2022; nptrend = 0.23). Patients with DS more commonly presented as having hypothyroidism, dementia, chronic obstructive pulmonary disease (all P < 0.05) and less frequently underwent cardiac procedures (7.6 vs 23.2%, P < 0.001). Following risk-adjustment, the presence of DS remained independently associated with greater odds of mortality among all hospitalizations (AOR 2.00, 95%CI 1.40-2.88, P < 0.001). Conclusions: Adults with DS and CHD represent a clinically vulnerable population with higher in-hospital mortality and lower procedural utilization. These findings underscore the need for dedicated care pathways to improve outcomes during medical admissions.

TÍTULO / TITLE: - Clinical profile and hospital outcomes of children with Down syndrome diagnosed with congenital heart disease in a developing country: A retrospective study

REVISTA / JOURNAL: - PLoS One. 2026 Apr 6;21(4):e0345457. doi: 10.1371/journal.pone.0345457. eCollection 2026. Free PMC

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AUTORES / AUTHORS: - Zawadi Edward Kalezi et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania.

RESUMEN / SUMMARY: - Background: The World health organization (WHO) identifies Down syndrome (DS) as one among common congenital disorders, along with congenital heart defects. Approximately fifty percent of children diagnosed with DS are affected by congenital heart defects which significantly impact their survival. Nevertheless, in low and middle income countries, there is limited published data on congenital heart defects in children with DS and their treatment outcomes. Therefore, this study aimed to document the clinical characteristics and hospital outcomes of children with DS who were diagnosed with heart defects. The goal is to assist healthcare providers and policymakers in improving care for these children. Methods: This was a retrospective descriptive study of children with DS diagnosed with heart disease admitted at the Jakaya Kikwete Cardiac Institute (JKCI) from December 2022 through December 2024. Socio-demographics, clinical characteristics, and survival data were extracted from medical records. Frequencies and proportions were calculated for categorical variables. The description of mean with standard deviation (SD) and median with and interquartile range (IQR) were calculated for continuous data. For the missing data, the case deletion approach was used. Results: In two years, out of 1,356 admitted children, data from 104 children with Down syndrome were analysed. Most of them, 93.2%, were aged below 5 years, with a slight predominance of male children, of almost 58%. Fifty percent (58/104) of study participants resided in the coastal region of Tanzania, followed by the northern zone (19.2%, 20/104). The most frequent cardiac diagnoses were AVSD, 46.2% and VSD, 14.4% with a median age at diagnosis of 5 months (IQR, 3.3-10). The median age of the mothers was 38 years (IQR, 38-42) while the mean age of the fathers was 36.9 years (SD, ± 7.1). At discharge, nearly a quarter, 19.2% of children had prolonged hospital stays of more than 2 weeks, and 7.7% (8/104) of enrolle

TÍTULO / TITLE: - Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique

REVISTA / JOURNAL: - Am J Case Rep. 2026 Apr 28:27:e951886. doi: 10.12659/AJCR.951886.

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AUTORES / AUTHORS: - Zivojin S Jonjev et al

INSTITUCIÓN / INSTITUTION: - Clinic of Cardiovascular Surgery, Institute for Cardiovascular Diseases of Vojvodina, Sremska Kamenica, Serbia

RESUMEN / SUMMARY: - BACKGROUND Atrioventricular septal defects (AVSDs) are common in Down syndrome, with the complete form being more frequent. Partial AVSD with significant mitral and tricuspid regurgitation presenting in adulthood poses a complex surgical challenge. This report describes a prosthesis-free, valve-sparing repair in a 21-year-old man with Down syndrome and partial AVSD with severe dual valve regurgitation. CASE REPORT A 21-year-old man with Down syndrome presented with fatigue, dyspnea, and poor exercise tolerance. Echocardiography revealed a large primum atrial septal defect, a high membranous ventricular septal defect, severe mitral regurgitation from a cleft in the A2 segment of the anterior mitral leaflet, and severe tricuspid regurgitation from a cleft in the septal cusp. The patient underwent a prosthesis-free repair via median sternotomy. The mitral valve was repaired by cleft closure and modified suture annuloplasty, the tricuspid valve by cleft closure and modified De Vega annuloplasty, and the septal defects were closed with an autologous pericardial patch. The postoperative course was uneventful. CONCLUSIONS At 1-year follow-up, echocardiography demonstrated competent valves with no residual shunts and stable ventricular function. A prosthesis-free, valve-sparing repair is a safe and effective option for partial AVSD with dual valve involvement in adults with Down syndrome, eliminating the need for prosthetic material and lifelong anticoagulation.

Dental - Dental

TÍTULO / TITLE: - Functional Independence Related to Oral Hygiene and Periodontal Status in Patients With Down Syndrome

REVISTA / JOURNAL: - Int J Dent Hyg. 2026 May 3. doi: 10.1111/idh.70085. Online ahead of print.

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AUTORES / AUTHORS: - Joana Albuquerque Bastos de Sousa et al.

INSTITUCIÓN / INSTITUTION: - Dentistry Graduate Program, Federal University of Maranhao, Sao Luis, Brazil.

RESUMEN / SUMMARY: - Objectives: This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods: A cross-sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were collected. The periodontal assessment included: probing depth (PPD), Clinical Attachment Level (CAL), Gingival Bleeding Index (GBI) and Visible Plaque Index (VPI). A structural equation model was used in the statistical analysis. Results: Regarding functional independence, higher frequencies of self-care skills were observed for eating (91.8%), using the bathroom (91.8%) and dressing (85.7%) and using the phone alone (53.1%). The experience of oral hygiene guidance contributed to an increase in the daily frequency of brushing (SRC = 0.280, SE = 0.134, p = 0.036). It was noted that the older the individual, the greater the impairment of the periodontal condition (p < 0.001). It was observed that greater functional independence was associated with less periodontal compromise. Conclusion: A greater functional independence is related to a better periodontal status. These study findings indicate that the development of self-care skills seems to be a positive strategy for the oral health of DS patients.

TÍTULO / TITLE: - Effects of Nonsurgical Periodontal Treatment on Bacterial and Clinical Parameters in Down Syndrome Patients Based on 16S rRNA Gene Amplicon Sequencing

REVISTA / JOURNAL: - Acta Med Okayama. 2026 Apr;80(2):85-97. doi: 10.18926/AMO/70451. Free article

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AUTORES / AUTHORS: - Takahiko Shiba et al.

INSTITUCIÓN / INSTITUTION: - Department of Periodontology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo.

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are more susceptible to periodontal disease; however, microbial changes following treatment remain insufficiently understood. This study evaluated the effects of nonsurgical periodontal therapy on clinical outcomes and oral microbiome dynamics in 6 patients with DS using 16S rRNA gene amplicon sequencing. Bacterial diversity, composition, network structure, and predicted functional pathways were analyzed using dental plaque samples. Bleeding on probing decreased significantly (p=0.047) after treatment, with a trend toward reduction in periodontal inflamed surface area (p=0.05). The abundance of Fusobacteria at the class level decreased significantly after treatment. The abundance of Mogibacterium timidum was higher in the pretreatment group than in the posttreatment group. M. timidum was positively correlated with Treponema denticola and associated with multiple bacterial taxa in the network during pretreatment. Predicted functional pathways related to aromatic compound degradation were more abundant in posttreatment samples than in pretreatment samples. An increase in the abundance of Fusobacterium and the positive correlation between T. denticola and M. timidum, together with their associations with other periodontal pathogens before treatment, may contribute to the development of periodontitis in individuals with DS. Nonsurgical periodontal therapy produces measurable clinical improvement and promotes microbial shifts in patients with DS.

TÍTULO / TITLE: - Outpatient intravenous sedation for dental treatment in patients with special health care needs: a five-year retrospective study in Venezuela

REVISTA / JOURNAL: - Front Oral Health. 2026 Apr 7:7:1759205. doi: 10.3389/froh.2026.1759205. eCollection 2026. Free PMC

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AUTORES / AUTHORS: - Mariana Morales-Chavez

INSTITUCIÓN / INSTITUTION: - Director of Dental Research Center, Dental School, Santa Maria University, Caracas, Venezuela

RESUMEN / SUMMARY: - Background: Patients with special health care needs (SHCN) frequently present behavioral and medical conditions that complicate conventional dental treatment. This study aimed to describe the clinical profile, dental procedures, pharmacological protocols, and safety outcomes of outpatient intravenous sedation in SHCN patients treated in a specialized center in Venezuela. Materials and methods: A retrospective review was conducted of all SHCN patients who received outpatient intravenous sedation for dental treatment at a private clinic in Caracas, Venezuela, between January 2019 and December 2024. Demographic data, type of disability, American Society of Anesthesiologists (ASA) physical status, dental procedures performed, sedative and analgesic regimens, duration of treatment and sedation, number of sedation sessions, intraoperative oxygen saturation, and complications were extracted from electronic records. Only patients classified as ASA I-III with complete medical and dental charts were included. Data were analyzed using descriptive statistics (means and standard deviations for continuous variables; frequencies and percentages for categorical variables). Group comparisons, when performed, used chi-square or Fishers exact tests for categorical variables and t tests or Mann-Whitney U tests for continuous variables, with a significance level of 0.05. Results: A total of 212 SHCN patients (70.8% male; mean age 11.1 ± 10.5 years) underwent 2,269 dental procedures under intravenous sedation. Autism spectrum disorder was the most frequent condition (34.0%), followed by dental phobia (16.5%), Down syndrome (16.0%), and very young uncooperative children (13.7%). Restorative procedures accounted for 52.2% of all treatments, preventive/periodontal procedures for 27.8%, and surgical interventions for 20.0%. The most common drug regimens were midazolam-fentanyl-ketamine (34.0%) and midazolam-fentanyl-propofol (27.4%). Oxygen saturation remained ≥90% in all but one tra

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE: - Multidisciplinary Management of Paediatric Nasolacrimal Duct Obstruction at a Tertiary Hospital: A Five-Year Review

REVISTA / JOURNAL: - Cureus. 2026 Apr 11;18(4):e106846. doi: 10.7759/cureus.106846. eCollection 2026 Apr. Free PMC arti

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AUTORES / AUTHORS: - Arshad Zubair et al.

INSTITUCIÓN / INSTITUTION: - Otolaryngology - Head and Neck Surgery, Alder Hey Childrens NHS Foundation Trust, Liverpool, GBR.

RESUMEN / SUMMARY: - Introduction Nasolacrimal duct obstruction (NLDO) is the most common cause of childhood epiphora. Congenital NLDO is usually managed conservatively in the first year of life; failing which, surgical interventions - such as syringing and probing (S&P), insertion of stents (intubation), or dacryocystorhinostomy (DCR) - are offered in a stepwise manner. The aim of this study was to evaluate the outcomes of our joint ophthalmology-ENT service in the management of NLDO. Methods This was a retrospective study conducted at a tertiary paediatric hospital. Nasolacrimal surgeries were retrieved from Hospital Episode Statistics (HES) data for a five-year period between May 2017 and April 2022. A retrospective case-note review was undertaken to examine demographics, presentation, surgical interventions, and outcomes (classified as complete resolution, partial improvement, or no improvement). Results At our institution, NLDO surgeries are performed on a joint ophthalmology/ENT list. A total of 301 procedures were performed on 218 patients (293 eyes). The causes of epiphora included congenital NLDO (n = 193, 88.5%), secondary NLDO (n = 10, 4.6%), and dacryocystitis/mucocele (n = 8, 3.7%), among others. The median age at the first procedure was 26 months (range: 2-189). The median number of procedures for congenital NLDO was one (range: 1-5). The success rates were 73% for all S&P procedures (n = 135/185), 78% for intubation (n = 76/98), and 58% for DCR (n = 10/17). Patients with craniofacial syndromes required a statistically significantly higher number of DCRs. Overall, epiphora was completely resolved in 81% of cases (n = 237), partially resolved in 6% (n = 18), and was persistent in 13% (n = 38). Conclusion A multidisciplinary approach to NLDO ensures the efficient delivery of care by minimising the number of procedures and hospital attendances. Congenital NLDO can be successfully treated in the vast majority of cases with S&P and intubation. In cases with bony anatomical abno

TÍTULO / TITLE: - Hypoglossal Nerve Stimulation Therapy for Pediatric Obstructive Sleep Apnea: A Meta-Analysis

REVISTA / JOURNAL: - Biomedicines. 2026 Mar 28;14(4):770. doi: 10.3390/biomedicines14040770. Free PMC article.

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AUTORES / AUTHORS: - Ji Ho Choi et al

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology-Head and Neck Surgery, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea.

RESUMEN / SUMMARY: - Background/Objectives: This study evaluates the efficacy of hypoglossal nerve stimulation as an alternative intervention for pediatric patients with obstructive sleep apnea (OSA) unresponsive to standard therapies and examines the uniformity of therapeutic outcomes across different patient cohorts. Methods: An extensive systematic search was performed across four principal databases (PubMed, EMBASE, Cochrane Library, and Web of Science) utilizing keywords associated with pediatric OSA and hypoglossal nerve stimulation, encompassing studies up to July 2025 that provided objective polysomnographic metrics (e.g., apnea-hypopnea index [AHI] values) to enable the quantitative assessment of pre- and post-intervention effects in children. The primary outcome measured was the ratio of means (ROM), determined from pre-post data in single-group studies, with summary estimates obtained using the fixed-effects model. Results: The systematic review included nine eligible studies with a total of 140 pediatric subjects, the majority of whom were adolescents with Down syndrome. AHI meta-analysis outcomes indicated a marked improvement in OSA severity, yielding an overall ROM of 0.57 [95% confidence interval: 0.49-0.65]. The therapeutic benefit demonstrated a high degree of uniformity across cohorts, as indicated by minimal statistical heterogeneity (I2 = 16%, p = 0.30). Funnel plot assessment showed no statistically significant evidence of systematic publication bias. Conclusions: Current evidence suggests that hypoglossal nerve stimulation therapy is a safe, effective, and valuable alternative for pediatric OSA patients who do not respond to conventional therapies.

TÍTULO / TITLE: - Visual Communication Supports for the Assessment of Swallowing and Somatosensation in Adults With Down Syndrome

REVISTA / JOURNAL: - Perspect ASHA Spec Interest Groups. 2026 Feb 9;11(1):202-212. doi: 10.1044/2025_persp-25-00100. Free

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AUTORES / AUTHORS: - Sophie Wolf et al.

INSTITUCIÓN / INSTITUTION: - Department of Communication Sciences and Disorders, The Pennsylvania State University, University Park, PA.

RESUMEN / SUMMARY: - Purpose: This article describes practical strategies for enhancing swallow assessments for individuals with intellectual or cognitive disabilities through the inclusion of visual communication supports (known as augmentative and alternative communication [AAC]). These strategies were developed to support understanding and self-expression during the swallow assessments for individuals with Down syndrome, as part of a large research study. Over the last 2 years, these supports have been integrated into swallow assessments with 14 adults with Down syndrome. Method: Clinicians and researchers with expertise in swallowing and AAC collaboratively designed and refined visual communication aids to enhance understanding and task completion of swallowing-related assessments, including the Mann Assessment of Swallowing Ability, Iowa Oral Performance Instrument, spontaneous swallowing frequency, food avoidance inquiries, and lingual somatosensation testing. A summary table of assessments and suggested strategies is provided. All study procedures were approved by the Institutional Review Board (IRB #00022372) at The Pennsylvania State University. Results: Our observations suggest the integration of AAC enhances the accessibility of swallow assessments for individuals with intellectual disabilities, supporting their participation in these assessments. Many participants referenced the visual aids, such as videos, as key to their understanding of what to expect and what to do during assessments. These observations are consistent with research showing that multisensory modalities and adaptations can improve functional outcomes for people with Down syndrome. Conclusions: Incorporation of visual supports may be useful for clinicians and researchers seeking to improve accessibility in swallow assessments for diverse populations. Clearly, dedicated research is necessary to examine these observations systematically.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE: - Nutrient Intake and Physical Activity of School-Aged Children with Trisomy 21 Living in Manitoba, Canada

REVISTA / JOURNAL: - Nutrients. 2026 Apr 23;18(9):1330. doi: 10.3390/nu18091330. Free PMC article.

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AUTORES / AUTHORS: - Maria S Baranowski et al.

INSTITUCIÓN / INSTITUTION: - College of Community and Global Health, University of Manitoba, Winnipeg, MB R3T 2N2, Canada.

RESUMEN / SUMMARY: - Background: Children and adults with Trisomy 21 are more likely to develop nutrition-related conditions and diseases. The nutrition-related health of Canadians with Trisomy 21 is unknown. We aimed to determine the nutrient intake and physical activity of school-aged children with Trisomy 21 in Manitoba, Canada. Methods: Mothers of 14 school-aged children (n = 7 female, average age 9 years old) with Trisomy 21 completed a 24 h dietary recall and a survey that included questions about their childrens nutrition and physical activity. Nutrient intake analysis was conducted to compare food and beverage consumption with dietary guidelines and nutrient recommendations. Data were analyzed descriptively. Results: Most children with T21 included in this study consumed an adequate average intake of daily protein, carbohydrate, and iron; an inadequate average intake of daily dietary fibre and calcium; and an excessive average daily intake of added sugars and saturated fat. Notably, all children consumed inadequate vitamin D and excessive sodium. Most children consumed a dietary supplement (10/14), engaged in moderate-intensity physical activity (10/14), and were active for more than 60 min per day (12/14). Conclusions: Most children with Trisomy 21 included in this study met daily physical activity recommendations. However, despite a variety of foods reportedly consumed across all food groups, nutrient intake among school-aged children with Trisomy 21 included in this study was mixed, as both deficiencies and excessive amounts of some nutrients were observed. There is a need to improve the nutrient intake of children with Trisomy 21 to reduce their risk of developing nutrition-related conditions and diseases.

TÍTULO / TITLE: - Subclinical inflammation in children with Down syndrome: implications for preventive care

REVISTA / JOURNAL: - Ann Pediatr Endocrinol Metab. 2026 Apr;31(2):119-128. doi: 10.6065/apem.2550148.074. Epub 2026 Apr

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AUTORES / AUTHORS: - Charu Sharma et al.

INSTITUCIÓN / INSTITUTION: - Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.

RESUMEN / SUMMARY: - Purpose: Down syndrome (DS) is associated with metabolic dysregulation, obesity, and increased risk of chronic inflammation. This study aimed to assess subclinical inflammation in children with DS by evaluating inflammatory biomarkers, such as high-sensitivity C-reactive protein (hs-CRP), and their association with metabolic parameters including ghrelin, lipid profiles, and vitamin D levels. Methods: A total of 49 children with DS (aged 1-18 years) and 22 age-matched healthy controls were enrolled. Anthropometric data, body fat percentage, and metabolic parameters were assessed. Inflammatory markers (hs-CRP, apolipoprotein-B [Apo B], adiponectin), metabolic hormones (ghrelin, insulin), and lipid profiles were determined from venous blood samples. Statistical analyses included bivariate correlation, analysis of variance, and multiple linear regression to identify predictors of inflammation. Results: Children with DS exhibited significantly higher hs-CRP levels than controls (p=0.03), indicative of increased systemic inflammation. Higher hs-CRP levels were associated with older age (r=0.33, p=0.006), greater obesity (body mass index: r=0.32, p=0.011), and elevated serum insulin and low-density lipoprotein levels. Ghrelin levels correlated negatively with Apo B (r=-0.41, p<0.001) and positively with hs-CRP (r=0.30, p=0.012). Predictors of inflammation (based on hs-CRP) included older age, male sex, higher gamma-glutamyl transferase level, and a diagnosis of DS (adjusted R²=0.276). Conclusion: Children with DS are prone to metabolic inflammation, with increasing age and obesity exacerbating inflammatory responses. Clinicians should monitor and manage weight, dyslipidemia, and inflammation in this population to prevent long-term complications such as cardiovascular diseases and insulin resistance.

TÍTULO / TITLE: - Evidence of anti-corticotroph autoantibodies in Down syndrome with isolated adrenocorticotropic hormone deficiency: findings from a single case

REVISTA / JOURNAL: - Endocrine. 2026 May 2;91(1):161. doi: 10.1007/s12020-026-04629-0.

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AUTORES / AUTHORS: - Miki Watanabe et al.

INSTITUCIÓN / INSTITUTION: - Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Hospital, Kobe, Japan.

RESUMEN / SUMMARY: - Purpose: Down syndrome (DS) is associated with immune dysregulation and a broad spectrum of autoimmune diseases; however, autoimmune involvement of the pituitary gland remains poorly characterized. Isolated adrenocorticotropic hormone deficiency (IAD) is a rare cause of secondary adrenal insufficiency, and its relationship to DS-related autoimmunity has not yet been elucidated. We encountered a single case of DS that was complicated by IAD. We describe the clinical course in detail and present immunological findings suggestive of an autoimmune basis for IAD in the context of DS. Methods and results: To experimentally evaluate pituitary-directed autoimmunity, circulating antibodies were analyzed using immunofluorescence staining of mouse pituitary tissue. Immunoglobulin G derived from an individual with DS and IAD specifically showed reactivity toward corticotrophs, as demonstrated by colocalization with ACTH immunostaining. HLA genotyping did not identify alleles previously associated with idiopathic IAD, suggesting a disease mechanism distinct from established genetic susceptibility. Conclusion: The identification of anti-corticotroph antibodies in DS provides the first immunological evidence linking IAD to DS-related autoimmunity. These findings suggest that autoimmune IAD may represent a previously unrecognized component of endocrine polyautoimmunity in DS and underscore the importance of considering pituitary autoimmunity in the endocrine assessment of this population. However, considering that the present findings are derived from a single case, further studies are warranted to confirm their broader applicability.

TÍTULO / TITLE: - Early metabolic and hepatic alterations in children with Down syndrome: a hidden risk beyond BMI

REVISTA / JOURNAL: - J Pediatr Endocrinol Metab. 2026 Jun 1. doi: 10.1515/jpem-2026-0221. Online ahead of print.

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AUTORES / AUTHORS: - Valeria Calcaterra et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - Objectives: Children and adolescents with Down syndrome (DS) are at increased risk of cardiometabolic impairment, but this vulnerability may not be adequately captured by body mass index (BMI) alone. This study aimed to characterize anthropometric, metabolic, and hepatic alterations in pediatric DS beyond conventional BMI-based assessment. Methods: We included 95 children and adolescents aged 5-18 years: 48 with DS and 47 controls. Anthropometric assessment included weight, height, waist circumference, BMI z-score, waist-to-height ratio (WHtR), and predicted body composition. Fasting blood samples were analyzed for glucose, insulin, homeostatic model assessment for insulin resistance (HOMA-IR), triglyceride-glucose (TyG) index, lipid profile, and liver enzymes. Between-group differences were assessed using age- and sex-adjusted analysis of covariance, while multivariate analyses identified the variables contributing most strongly to group discrimination. Results: Compared with controls, children with DS showed no significant difference in BMI z-score, but had higher WHtR and % fat mass and lower % fat-free mass (p<0.05). They also exhibited a less favorable metabolic profile, with higher fasting glucose, HOMA-IR, and TyG index, lower HDL-cholesterol, higher triglycerides, and higher liver enzyme levels (p<0.05). Multivariate analyses confirmed that liver enzymes, glycemic markers, HDL-cholesterol, and WHtR were the strongest contributors to group separation. Conclusions: Children and adolescents with DS display an early high-risk cardiometabolic phenotype characterized by altered body composition, insulin resistance, dyslipidemia, and biochemical signs of hepatic involvement only partly reflected by BMI. These findings support broader metabolic surveillance in pediatric DS to improve early risk stratification and guide preventive interventions.

TÍTULO / TITLE: - A Tale of Three CTs: A Hip Fracture in a Patient with Down Syndrome Uncovers an Endocrinologic Iceberg

REVISTA / JOURNAL: - Isr Med Assoc J. 2026 May;28(5):320-323. Free article

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AUTORES / AUTHORS: - Chen Faibis et al.

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine C, Sheba Medical Center, Tel Hashomer, Israel, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

RESUMEN / SUMMARY: -

Epidemiology - Epidemiología

TÍTULO / TITLE: - Down Syndrome Births Among Live Births from the CDC Wonder Database

REVISTA / JOURNAL: - Children (Basel). 2026 Apr 28;13(5):612. doi: 10.3390/children13050612. Free PMC article.

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AUTORES / AUTHORS: - Stephanie L Santoro et al.

INSTITUCIÓN / INSTITUTION: - Massachusetts General Hospital, Boston, MA 02114, USA.

RESUMEN / SUMMARY: - We evaluated the birth rate of Down syndrome (DS) in the CDC birth certificate online database. From 2016 to 2025, live birth incidence could range greatly (depending on the proportion of unknown cases that are counted as DS+) due to relatively high numbers of unknown/not stated status. The annual live birth incidence of DS in live-born infants using CDC birth certificate data from 2016 to 2025 shows a wide range of potential birth rates as calculated here, due to relatively high numbers of unknown/not stated DS status. Although our findings overlap with published data, future studies are needed to further evaluate the current birth rate of DS in the US.

Gastroenterology - Gastroenterología

TÍTULO / TITLE: - Near-fatal Food Aspiration in a Young Child With Down Syndrome

REVISTA / JOURNAL: - J Dev Behav Pediatr. 2026 May 13. doi: 10.1097/DBP.0000000000001490. Online ahead of print.

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AUTORES / AUTHORS: - Masazumi Miyahara, Kyoko Osaki

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Okanami General Hospital, Iga, Japan.

RESUMEN / SUMMARY: - Objective: To highlight the multifactorial risks of food aspiration in children with Down syndrome (DS), including anatomical, functional, and behavioral vulnerabilities, through a case of near-fatal choking. Method: We describe a case involving a 4-year-old boy with DS who presented with near-asphyxiation after aspirating a large piece of fried chicken. The patients medical history, clinical findings, imaging results, and treatment course were reviewed. Results: The patient exhibited delayed language development, absent protective airway reflexes, impulsive eating behavior, and possible streptococcal tonsillitis. A large food bolus was visualized in the upper airway but could not be removed because of agitation. Spontaneous coughing expelled the object, and the patient recovered fully after a course of antibiotics. Imaging confirmed the obstruction, and group A Streptococcus was detected on a throat swab. Conclusion: This case underscores the need for proactive feeding and swallowing assessments, especially during transitions to self-feeding in children with DS. Individualized preventive strategies, including caregiver education and early behavioral assessment, are critical to reducing aspiration-related morbidity in this vulnerable population.

TÍTULO / TITLE: - A novel clustering of down syndrome and coeliac disease complicated by enteritis and small intestinal strictures: a case series

REVISTA / JOURNAL: - Ther Adv Gastroenterol. 2026 May 6:19:17562848261446854. doi: 10.1177/17562848261446854.Free PMC

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AUTORES / AUTHORS: - Cynthia Kanagasundaram et al.

INSTITUCIÓN / INSTITUTION: - Walter and Eliza Institute, Parkville, VIC, Australia.

RESUMEN / SUMMARY: - Down syndrome (DS) increases risk for autoimmune conditions, including coeliac disease (CeD). Here, we report five adults with DS and biopsy-proven CeD who developed enteritis and symptomatic small bowel stricturing, a clustering not previously described in this population. All five patients had confirmed DS and CeD, and despite apparent adherence to a gluten-free diet, all developed small bowel strictures requiring endoscopic intervention, most commonly at the duodenal D1/D2 junction. Stricture histology demonstrated active CeD with varying degrees of inflammation and fibrosis. Three patients had elevated faecal calprotectin without consistent colonic pathology, suggesting enteritis as an important inflammatory driver. Two patients responded well to open capsule budesonide with symptom resolution and histological improvement. One patient showed no sustained benefit from multiple immunosuppressive agents, including corticosteroids, azathioprine, and infliximab, requiring repeated endoscopic dilatations. Differential diagnoses, including Crohns disease, tuberculosis, nonsteroidal anti-inflammatory drug (NSAID) enteropathy, refractory CeD, and cryptogenic multifocal ulcerating stenosing enteritis were excluded based on clinical history, imaging, and histological findings. No granulomas or aberrant T-cell populations were identified. We propose this clustering may reflect a shared pathogenic mechanism linked to the interferonopathy of DS. Trisomy 21 causes overexpression of interferon receptors, creating heightened interferon signalling. Combined with CeD-triggered interferon production from gluten exposure, this may drive amplified immune activation, chronic enteritis, and fibrotic stricture formation. This hypothesis warrants further investigation through transcriptomic and immunohistochemical studies. Clinicians should consider this clustering in DS patients with CeD who present with persistent gastrointestinal symptoms. Given the underlying biology, JAK inhibitors

TÍTULO / TITLE: - Toward harmonized guidelines: A systematic review of celiac disease recommendations for children with Down syndrome

REVISTA / JOURNAL: - J Pediatr Gastroenterol Nutr. 2026 May 29. doi: 10.1002/jpn3.70469. Online ahead of print.

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AUTORES / AUTHORS: - Vanessa Nadia Dargenio et al

INSTITUCIÓN / INSTITUTION: - Interdisciplinary Department of Medicine, Pediatric Section, Childrens Hospital Giovanni XXIII, University of Bari "Aldo Moro", Bari, Italy.

RESUMEN / SUMMARY: - This systematic review critically compares current international guidelines and recommendations from major medical organizations on the management of celiac disease (CD) in individuals with Down syndrome (DS), in light of the increased disease prevalence and the diagnostic challenges posed by overlapping clinical and immunological features. A comprehensive search of PubMed, Embase, Scopus, and international association websites (through June 1, 2025) identified guidelines, position papers, and expert statements endorsed by national or international bodies. Two reviewers independently screened and selected studies, and guideline quality was assessed using the AGREE II tool. Of 929 records identified, seven clinical practice guidelines, and two clinical practice reports were included. Recommendations varied widely, ranging from universal screening (e.g., BSPGHAN, DSMIG, ESsCD, ESPGHAN, and NASPGHAN) to symptom-based testing (e.g., AAP, AGA, ACG, and NICE). While there is consensus on serologic screening using tissue transglutaminase IgA (tTG-IgA) and total IgA, interpretation is complicated by the high prevalence of selective IgA deficiency in DS, often necessitating IgG-based testing. HLA genotyping is not generally recommended for routine screening but may help exclude CD in non-susceptible individuals and support biopsy-sparing diagnostic pathways. In conclusion, marked heterogeneity exists among current guidelines. Harmonized, evidence-based recommendations are needed. HLA-DQ2/DQ8 genotyping should be used primarily for its high negative predictive value to exclude CD in non-susceptible individuals with DS. This tiered approach offers a clinically actionable strategy to reduce diagnostic delays, minimize unnecessary procedures, and improve care equity for children with DS.

TÍTULO / TITLE: - Hyperactivation of the cGAS-STING pathway promotes liver inflammation in Down syndrome

REVISTA / JOURNAL: - Genes Immun. 2026 May 2. doi: 10.1038/s41435-026-00401-6. Online ahead of print.

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AUTORES / AUTHORS: - Aashirwad Shahi et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiology & Biophysics, College of Medicine, Howard University, Washington, DC, USA.

RESUMEN / SUMMARY: - Patients with Down Syndrome (DS) are characterized by dysfunction of several organs, including the liver, brain, heart defects, gastrointestinal anomalies, and lethal immune hypersensitivity. A person with DS is also susceptible to various inflammatory diseases, including hepatic autoimmune diseases. The Cyclic guanosine monophosphate-adenosine monophosphate synthase (cGAS) is known to trigger the stimulator of interferon genes (STING) and downstream proinflammatory factors. In this work, we hypothesized that oxidative stress-associated DNA damage triggers activation of the cGAS-STING signaling pathway and promotes liver inflammation in DS. Here, we investigated the role of reactive oxygen species (ROS) associated DNA damage and the cGAS-STING signaling pathway in the pathogenesis of hepatic inflammation in the DS model. Our results showed that DS cells harbor excessive ROS and DNA damage in DS fibroblasts and DS mouse liver. Further, DS cells accumulate micronuclei that likely serve as a source of cytoplasmic DNA to stimulate cGAS-STING activation. In addition, RNA-seq analysis results showed enhanced expression of key type I interferon factors in cGAS-STING pathways in DS liver and inflammatory responses and elevated liver enzymes such as alanine transaminase (ALT) that indicate a hepatocellular liver injury in DS. The results of this study opened the opportunity to connect endogenous DNA damage triggers innate immune response, which may contribute to the upregulation of the cGAS-STING signaling to exacerbate hepatic inflammation in DS.

Genetics - Genética

TÍTULO / TITLE: - Maternal genetic variants associated with aneuploid conception: a narrative review

REVISTA / JOURNAL: - Hum Reprod Update. 2026 May 13:dmag012. doi: 10.1093/humupd/dmag012. Online ahead of print.

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AUTORES / AUTHORS: - Siyao Ha et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, the Reproductive Medicine Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

RESUMEN / SUMMARY: - Background: Human aneuploid conception, a leading cause of infertility, pregnancy loss, and congenital disorders (e.g. Downs syndrome), arises from errors in chromosome segregation during oocyte meiosis or embryonic mitosis. While advanced maternal age is a well-established risk factor, significant inter-individual variation exists among younger women, suggesting a substantial role for maternal genetic determinants. Objective and rationale: This review summarizes the identified maternal genetic variants associated with aneuploid conceptions and highlights directions for future research. Search methods: We systematically searched PubMed, Embase, and the Cochrane Library (up to 12 January 2026), using key terms related to maternal genetics, genetic variants, aneuploidy, and pregnancy. Inclusion criteria were human studies, genetic confirmation of aneuploidy (in oocytes/embryos/products of conception/fetal cells), maternal variants (rare single-nucleotide variations, single-nucleotide polymorphisms, and small indels [≤50 bp]), and English-language publications. Exclusion criteria were non-human studies, structural/non-aneuploid numerical abnormalities, paternal factors, and conference abstracts. Extracted data items included study identifiers, population characteristics, variant details, detection methods, clinical phenotypes, type and origin of aneuploidy, pathogenicity or effect assessment, and gene inclusion in currently commercially available infertility next-generation sequencing (NGS) panels. Rare variants were classified per American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines, whereas common variants were evaluated based on effect estimates and functional validation. Study quality was appraised using a modified Newcastle-Ottawa Scale. Supplementary searches explored associations between the identified genes and a broader range of reproductive phenotypes. Outcomes: From 28 studies covering th

TÍTULO / TITLE: - A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX

REVISTA / JOURNAL: - Mol Cytogenet. 2026 Apr 28. doi: 10.1186/s13039-026-00765-4. Online ahead of print. Free article

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AUTORES / AUTHORS: - Mengjie Shen et al

INSTITUCIÓN / INSTITUTION: - Chongqing Key Laboratory of Human Embryo Engineering, Center of Reproductive Medicine, Women and Childrens Hospital of Chongqing Medical University, Chongqing, 400013, China.

RESUMEN / SUMMARY: - TITULO / TITLE: A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX REVISTA / JOURNAL: Mol Cytogenet. 2026 Apr 28. doi: 10.1186/s13039-026-00765-4. Online ahead of print. Free article AUTORES / AUTHORS: Mengjie Shen et al INSTITUCION / INSTITUTION: 1Chongqing Key Laboratory of Human Embryo Engineering, Center of Reproductive Medicine, Women and Childrens Hospital of Chongqing Medical University, Chongqing, 400013, China. RESUMEN / SUMMARY: Background: Only ten patients with both trisomy 21 and normal karyotypes have been documented, including four singleton patients and three sets of twins. Among these twins, two were monochorionic dizygotic: one pair was terminated at 18 weeks, and the other was followed for two years. Case presentation: A 38-year-old woman conceived through in vitro fertilization. Ultrasound examinations confirmed monochorionic twins. Standard karyotyping of peripheral blood cells from the twins revealed 47,XY,+21/46,XX chimerism, with a predominance of the 46,XX line. Single nucleotide polymorphism microarray analysis of oral mucosa cells identified a single cell line (46,XX) in the twin girl and a single cell line (47,XY,+21) in the twin boy. Over a decade of follow-up, the twins exhibited normal development, including hormonal values and external genitalia. While the twin boy exhibited a typical Down Syndrome phenotype. Conclusions: Monochorionic dizygotic (MCDZ) twins, though rare, can occur in assisted reproductive technology (ART) pregnancies, possibly due to blastocyst fusion or other mechanisms. These cases may be associated with confined blood chimerism (CBC) and monochorionic complications, despite genetic discordance between the twins. MCDZ twinning presents unique diagnostic and management challenges. For monochorionic dizygotic twins, early determination of zygosity and chorionicity is essential. Timely diagnosis, multidisciplinary care-including maternal-fe

TÍTULO / TITLE: - A modified CRISPR/Cas9 approach in silencing the triplication in Down syndrome: A treatment path XISTs

REVISTA / JOURNAL: - Proc Natl Acad Sci U S A. 2026 Apr 21;123(16):e2517953123. doi: 10.1073/pnas.2517953123. Epub 2026

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AUTORES / AUTHORS: - Gewei Lian et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115.

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common developmental human genetic disorders and is due to triplication of chromosome 21 (HSA21). Although previous studies using epigenetic suppression of HSA21 by the long noncoding RNA XIST showed a potential for DS treatment, integration efficiency of XIST by conventional zinc finger nucleases is too low to allow for practical implementation. Here, we report a modified CRISPR/Cas9 approach, which enhances the efficiency of XIST gene integration. First, a codon-optimized λ-phage exonuclease (exo) was fused with Cas9 to create 5- and 3-end overhangs at cutting sites of donor DNA and acceptor chromosome DNA. Second, four sgRNAs, two of which selectively targeted each the acceptor or donor DNA, were assembled tandemly into one Cas9 plasmid (PX459) to increase the Cas9-cutting efficiency and promote donor DNA integration. Third, sgRNAs were designed by searching for unique single nucleotide polymorphism nucleotides distinct between the three HSA21 copies, as a protospacer adjacent motif site to specifically target one HSA21 copy. Fourth, donor DNA plasmid containing XIST was modified to disable replication and inhibit transcription function and allow for inducible expression. Our modified CRISPR method significantly enhanced the integration efficiency (20 to 40%) of long XIST gene (14 kb) into an extra chromosome 21 (HSA21), as was identified with PCR, cell cloning, immunostaining, and FISH. RNA sequencing results showed that imbalance of gene transcription across extra HSA21 can be partially corrected by XIST gene integration. The modified CRISPR method with XIST paves a road for therapeutic treatment for DS.

Gynecology - Ginecología

TÍTULO / TITLE: - Menopause in Patients With Disabilities

REVISTA / JOURNAL: - Clin Obstet Gynecol. 2026 Apr 22. doi: 10.1097/GRF.0000000000001020. Online ahead of print.

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AUTORES / AUTHORS: - John A Harris, Claire Z Kalpakjian

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics, Magee-Womens Research Institute, Gynecology, and Reproductive Science, University of Pittsburgh, Pittsburgh, Pennsylvania.

RESUMEN / SUMMARY: - This review covers menopause physiology, screening, treatment, and experience for women with physical, sensory, and intellectual and developmental disabilities. Menopause is a near-universal physiological experience for women with disabilities, but the menopause experience and management may vary widely due to differences or barriers related to cognition, communication, mobility, and disability-related medical conditions. While there are very limited trials of menopause treatments in populations of women with disabilities, there is substantial literature on the experience of menopause among these populations, and thoughtful extrapolations of available evidence support aggressive, evidence-based treatment for burdensome menopause symptoms.

TÍTULO / TITLE: - Pregnancy in a woman with down syndrome (47, XX, +21) and a euploid fetus: implications for prenatal diagnosis and counseling

REVISTA / JOURNAL: - Taiwan J Obstet Gynecol. 2026 May;65(3):587-591. doi: 10.1016/j.tjog.2025.11.024. Free article

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AUTORES / AUTHORS: - Chen Jin et al.

INSTITUCIÓN / INSTITUTION: - Department of Prenatal Diagnosis, Womens Hospital School of Medicine Zhejiang University Jilin Hospital, Changchun, Jilin, China.

RESUMEN / SUMMARY: - Objective: To report a rare pregnancy in a woman with Down syndrome (DS) whose fetus has a normal karyotype, and to discuss implications for prenatal diagnosis and counseling. Case report: A 24-year-old primigravida with cytogenetically confirmed DS (47, XX, +21) was referred at 17 weeks gestation. Amniocentesis revealed a euploid fetal karyotype (46, XX) with no pathogenic copy-number variants. A comprehensive fetal anatomical survey was normal, although fetal biometry measurements were at the lower end of the normal range. The pregnancy was complicated by maternal subclinical hypothyroidism, which was effectively managed with levothyroxine. The pregnancy is ongoing with scheduled antenatal follow-up. Conclusion: This case underscores that women with DS can conceive and carry fetuses with normal karyotypes and supports a counseling approach that emphasizes individualized risk assessment and the importance of offering invasive prenatal diagnostic testing.

TÍTULO / TITLE: - Trajectories of and trimester-specific six maternal lipid indices during pregnancy associated with preterm birth and its subtypes: a cohort-based record-linkage study

REVISTA / JOURNAL: - BMC Pregnancy Childbirth. 2026 May 11. doi: 10.1186/s12884-026-09225-8. Online ahead of print. Fre

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AUTORES / AUTHORS: - Meng-Ting Cao et al.

INSTITUCIÓN / INSTITUTION: - Key Laboratory for Health Technology Assessment, National Commission of Health and Family Planning, Fudan University, Shanghai, 200032, China.

RESUMEN / SUMMARY: - Objective: Maternal dyslipidemia during pregnancy affects occurrence of preterm birth (PTB), either spontaneous or iatrogenic, with varied mechanisms. This study aims at the trajectories of and trimester-specific six maternal lipids indices in relation to PTB and its subtypes. Methods: A cohort study was established on pregnant women who were screened for Down syndrome and followed up till termination of pregnancy. Lipid data were extracted from electronic medical records including triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C), and then linked with the cohort above. Non-HDL-C and atherogenic index of plasma (AIP) were calculated. Lipid dynamics across gestation were characterized by a generalized additive mixed model. Associations, overall and dose-response, of lipids with PTB and its subtypes were estimated respectively by a multivariable logistic regression model and a restricted cubic spline analysis. Results: Among the 2,749 pregnant women included in the final analysis, 137 (5.0%) delivered preterm. The six lipid indices differed in patterns across gestation. PTB-specific trajectories were clearly distinguishable from those of term birth for AIP throughout pregnancy and TG after about 20 weeks of gestation. Further, mid-pregnancy increments in AIP were strongly associated with higher odds of PTB (adjusted odds ratio [aOR] = 1.36, 95% confidence interval [CI]: 1.06-1.74 per standard deviation [SD]) and its iatrogenic subtype (aOR = 1.58, 95% CI: 1.05-2.38 per SD), and in a linear dose response. The aORs ranged from 1.29 to 1.50 for PTB with mid-pregnancy TG or non-HDL-C, iatrogenic PTB with mid-pregnancy TG or late-pregnancy TC, spontaneous PTB with mid-pregnancy non-HDL-C, and preterm premature rupture of the membranes with TG in mid-pregnancy, all per SD increment of the lipids above. Conclusions: Maternal lipids display distinct trajectories across gestation and affect

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE: - Outcomes of Myeloid Leukemia Associated With Down Syndrome Treated With a Reduced-Intensity Protocol: A Multicenter Experience in Argentina

REVISTA / JOURNAL: - Pediatr Blood Cancer. 2026 May 4:e70375. doi: 10.1002/1545-5017.70375. Online ahead of print.

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AUTORES / AUTHORS: - Alejandra Deana et al

INSTITUCIÓN / INSTITUTION: - Grupo, Argentino de Tratamiento de la Leucemia Aguda (GATLA), Buenos Aires, Argentina.

RESUMEN / SUMMARY: - Background: Children with Down syndrome (DS) have a markedly increased risk of myeloid leukemia (ML-DS). While survival rates approach 90% in high-income settings, treatment-related toxicity remains a critical challenge in other regions. This study evaluated overall survival (OS), event-free survival (EFS), cumulative incidence of relapse (CIR), and treatment-related mortality (TRM) in pediatric patients with ML-DS in Argentina. Design/methods: We conducted a multicenter retrospective study of 49 patients with ML-DS (≤18 years) treated between 2008 and 2025. All patients were treated with the GATLA 8-LMAP-2007 protocol, a reduced-intensity regimen based on AML-BFM 98 (four chemotherapy cycles with reduced anthracyclines, omission of high-dose cytarabine and mitoxantrone, eight intrathecal doses, and 1-year maintenance). We did not use cranial irradiation and hematopoietic stem cell transplantation. Survival was estimated using the Kaplan-Meier method, and comparisons were performed using the log-rank test. Results: We enrolled 49 patients with ML-DS in this study. Most patients were ≤2 years old (59.2%) and presented with the FAB M7 subtype (75.5%). At 48 months, the CIR was 6.9% (standard error [SE] 3.9), and TRM was 12.5% (SE 4.8). Both 48-month EFS and OS were 80.3% (SE 5.9). Conclusions: In this Argentine cohort, ML-DS treated with an adapted reduced-intensity protocol achieved favorable survival outcomes. However, the TRM of 12.5% highlights the ongoing need to optimize supportive care and further refine strategies to reduce treatment-related toxicity in this population.

TÍTULO / TITLE: - Transcription Factors GATA1/2 in Hematological Disorders

REVISTA / JOURNAL: - : EJHaem. 2026 Apr 24:7:e70258. doi: 10.1002/jha2.70258. eCollection 2026 Apr. Free PMC article

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AUTORES / AUTHORS: - Matthew Karr et al

INSTITUCIÓN / INSTITUTION: - Department of Hematology and Oncology Robert Wood Johnson Medical School Rutgers University New Brunswick New Jersey USA.

RESUMEN / SUMMARY: - Background: GATA1 and GATA2 are zinc-finger transcription factors essential for normal hematopoiesis. As genetic testing becomes more widely integrated into clinical practice, GATA1/2-related disorders are increasingly recognized, making it important for clinicians to understand their diagnosis and management. Aims: This review summarizes the clinical features, disease mechanisms, and management considerations for GATA1- and GATA2-related hematological disorders. Content: We discuss germline GATA1 mutations causing rare X-linked erythroid and megakaryocytic cytopenias, somatic GATA1 mutations driving myeloid leukemia of Down syndrome, and germline GATA2 mutations causing GATA2 deficiency syndrome-a predisposition to immunodeficiency and myeloid malignancies affecting up to 75%-80% of carriers. Evolving genotype-phenotype patterns, the somatic mutational landscape, and current therapeutic strategies, including allogeneic hematopoietic stem cell transplantation (HSCT), are reviewed. Summary: Despite growing recognition of GATA1/2-related disorders, many aspects of disease biology and clinical variability remain incompletely understood. Earlier identification and risk stratification of affected patients, along with advances in transplant approaches and novel therapeutics, will be essential for improving outcomes.

TÍTULO / TITLE: - Single cell transcriptional evolution of myeloid leukemia of Down syndrome

REVISTA / JOURNAL: - Nat Commun. 2026 Apr 23;17(1):3474. doi: 10.1038/s41467-026-71707-2. Free PMC article.

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AUTORES / AUTHORS: - Mi K Trinh et al.

INSTITUCIÓN / INSTITUTION: - Wellcome Sanger Institute, Hinxton, UK

RESUMEN / SUMMARY: - Children with Down syndrome have a 150-fold increased risk of developing myeloid leukaemia (ML-DS). Unusually for a childhood leukaemia, ML-DS arises from a preleukaemic state, termed transient abnormal myelopoiesis (TAM), via a conserved sequence of mutations. Here, we examine the relationship between the genetic and transcriptional evolution of ML-DS from natural variation; a rich collection of primary patient samples and foetal tissues with a range of constitutional karyotypes. We distil transcriptional consequences of each genetic step in ML-DS evolution, utilising single-cell mRNA sequencing, complemented by phylogenetic analyses in progressive disease. We find that transcriptional changes induced by the TAM-defining GATA1 mutations are retained in, and account for most of the ML-DS transcriptome. The GATA1 transcriptome pervades all stages of ML-DS, including progressive disease that had undergone genetic evolution. Our approach delineates the transcriptional evolution of ML-DS and provides an analytical blueprint for distiling consequences of mutations within their pathophysiological context.

TÍTULO / TITLE: - Polycomb repressive complex 2 insufficiency underlies myeloid leukemia in Down syndrome

REVISTA / JOURNAL: - Blood. 2026 Apr 8:blood.2025032083. doi: 10.1182/blood.2025032083. Online ahead of print.

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AUTORES / AUTHORS: - Yutaro Suzuki et al.

INSTITUCIÓN / INSTITUTION: - Albert Einstein College of Medicine, Bronx, New York, United States

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have an elevated risk of developing myeloid leukemia in DS (ML-DS). In addition to mutations in GATA1, which generate the truncated isoform GATA1-short (GATA1s), ML-DS requires additional somatic gene mutations, most frequently in cohesion and polycomb repressive complex 2 (PRC2) genes. Here, we show that PRC2 insufficiency underlies ML-DS pathogenesis. Transplantation of Gata1s fetal liver cells followed by deletion of the cohesion subunit Stag2 and/or the PRC2 component Ezh2 induced megakaryocyte-biased differentiation and expansion of megakaryocytic progenitors, culminating in lethal myelofibrosis. Mechanistically, loss of Stag2 or Ezh2 reinforced Gata1s-driven reduced chromatin accessibility at erythroid transcription factor target loci in pre-megakaryocyte/erythroid progenitors (pre-MegEs), thereby promoting megakaryocytic skewing. Ezh2 loss attenuated the Gata1s-mediated global elevation of H3K27me3 in pre-MegEs, resulting in derepression of a broad set of PRC2 target genes and establishing a functionally PRC2-insufficient state. Similarly, Stag2 loss induced a moderate but significant degree of PRC2-insufficient state in Gata1s progenitors. Furthermore, chromosome 21-encoded miR-125b blocked megakaryocytic differentiation of Gata1s progenitors lacking either Stag2 or Ezh2 alone, but drove full transformation and expansion of CD150+Sca-1+c-Kit+ leukemic stem cell-like populations only upon concurrent loss of both Stag2 and Ezh2, leading to acute megakaryoblastic leukemia in mice. These findings reveal that cohesin and PRC2 insufficiencies converge on PRC2 dysfunction while exerting distinct epigenetic effects, and synergize with trisomy 21 and GATA1s to remodel the epigenetic landscape, driving progression from a preleukemic state to overt leukemia.

TÍTULO / TITLE: - DLK1 is a GATA1s-Driven Dependency and Therapeutic Target in Down Syndrome-Associated Myeloid Leukemia

REVISTA / JOURNAL: - Blood Adv. 2026 Apr 7:bloodadvances.2025018830. doi: 10.1182/bloodadvances.2025018830. Online

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AUTORES / AUTHORS: - Lonneke Verboon et al.

INSTITUCIÓN / INSTITUTION: - Goethe Universitat Frankfurt, Frankfurt, Germany.

RESUMEN / SUMMARY: - Children with Down syndrome have a markedly increased risk of developing myeloid leukemia (ML-DS). Although having an excellent prognosis, 10-20% develop relapsed or refractory disease with poor survival, highlighting the need for new targeted approaches. The pathogenesis of ML-DS is tightly linked to fetal hematopoiesis and mutations in GATA1, generating the truncated GATA1short(s) isoform. We identified Delta-like non-canonical Notch ligand 1 (DLK1) as a direct GATA1s target. DLK1, a paternally imprinted transmembrane protein, is highly expressed in fetal liver CD34⁺ cells but absent in adult hematopoiesis, making it an attractive immunotherapeutic target. Chromatin profiling revealed GATA1s occupancy at a distal enhancer within the DLK1-DIO3 locus, driving aberrant DLK1 upregulation in ML-DS. Functional studies demonstrated that DLK1 is a leukemia dependency, as its genetic ablation impaired proliferation and engraftment, induced apoptosis, and altered Notch and β-catenin signaling. Therapeutically, a DLK1-directed antibody-drug conjugate (DLK1-ADC) induced selective cytotoxicity, abrogated colony formation, and significantly prolonged survival in refractory ML-DS PDX models, achieving durable remissions at higher doses. These findings establish DLK1 as a leukemia-specific vulnerability and provide preclinical proof-of-concept for DLK1-targeted therapies in ML-DS and other leukemias with fetal-like expression programs.

TÍTULO / TITLE: - The Kifc3 Motor Protein Controls Centrosomal Factor Cep192 in Ontogenic Coordination of Megakaryocyte Development

REVISTA / JOURNAL: - bioRxiv [Preprint]. 2026 Mar 23:2026.03.20.713234. doi: 10.64898/2026.03.20.713234. Free PMC artic

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AUTORES / AUTHORS: - Kamaleldin E Elagib et al

INSTITUCIÓN / INSTITUTION: - Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA.

RESUMEN / SUMMARY: - The distinct features of neonatal megakaryocytes, high proliferation and inefficient platelet production, have clinical repercussions. A diminished capacity for stress thrombopoiesis, the response to acute drops in platelet counts, contributes to the high prevalence of thrombocytopenia in premature infants and to impaired platelet recovery after umbilical cord blood stem cell transplantation. High proliferation also promotes leukemogenesis in babies with Down Syndrome (DS). The transcriptional coactivator Mkl1/MrtfA participates in programming the ontogenic shift from fetal/neonatal to adult-type megakaryopoiesis; in this activity it is opposed by the DS-associated kinase Dyrk1a. In a screen for downstream ontogenic effectors in human progenitors, we identified the kinesin Kifc3 as a factor selectively decreased in adult megakaryocytes and whose knockdown in neonatal megakaryocytes induced adult-type morphogenesis with augmented platelet release. Kifc3 acts as a minus-end directed motor for centrosomal delivery of various cargos. Centrosomal release of Cep192 has recently been found induce cellular process extensions through actin remodeling, reminiscent of megakaryocyte platelet release. In our studies, Cep192 showed striking upregulation and dispersion in adult vs neonatal megakaryocytes, and Kifc3 knockdown recapitulated this effect in neonatal megakaryocytes. A role for Cep192 in promoting megakaryocyte morphogenesis, distinct from its role in centrosome biogenesis, was demonstrated in vitro and in vivo. In silico screening for Kifc3 inhibitors identified a small molecule that affected neonatal megakaryocytes similarly to Kifc3 knockdown, indicating feasibility for therapeutic targeting of the Kifc3-Cep192 pathway in clinical conditions associated with fetal-type megakaryopoiesis.

TÍTULO / TITLE: - Transplantation outcomes in patients with Down syndrome-associated acute lymphoblastic leukaemia: Implications for treatment intensity and the use of novel therapies

REVISTA / JOURNAL: - Br J Haematol. 2026 May 24. doi: 10.1111/bjh.70583. Online ahead of print.

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AUTORES / AUTHORS: - Hisashi Ishida et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Okayama University Hospital, Okayama, Japan

RESUMEN / SUMMARY: - Down syndrome-associated acute lymphoblastic leukaemia (DS-ALL) is associated with inferior outcomes compared with non-DS-ALL; however, data on haematopoietic stem cell transplantation (HSCT) in DS-ALL remain limited. We analysed nationwide data of patients aged <30 years with B-cell precursor ALL who underwent first allogeneic HSCT between 2000 and 2022 in Japan. In total, 56 patients with DS-ALL and 3873 with non-DS-ALL were identified. The incidences of neutrophil engraftment, grade II-IV acute graft-versus-host disease and chronic graft-versus-host disease were comparable between groups. The 4-year event-free survival (EFS) was lower in DS-ALL than in non-DS-ALL (40.3% vs. 55.2%), but was similar when stratified by disease status at HSCT. The 4-year EFS rates in first and second complete remission (CR) were 62.7% and 48.2% in DS-ALL and 69.5% and 56.0% in non-DS-ALL respectively. Relapse, rather than non-relapse mortality (NRM), was the leading cause of treatment failure in DS-ALL. Among patients with DS-ALL undergoing HSCT in CR1/2, myeloablative conditioning (MAC) showed a trend towards superior EFS compared with reduced-intensity conditioning (RIC), which was associated with a higher incidence of NRM. Accordingly, patients in CR1/2 who are unable to tolerate MAC are considered good candidates for emerging novel therapies rather than RIC-HSCT.

Infectious diseases - Infecciones

TÍTULO / TITLE: - How I Treat: Immune dysregulation in Down syndrome

REVISTA / JOURNAL: - J Hum Immun. 2026 May 4;2(4):e20250161. doi: 10.70962/jhi.20250161. eCollection 2026 Jul 6.

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AUTORES / AUTHORS: - Melissa Gans et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Division of Allergy & Immunology, Jackson Memorial Health System, University of Miami Miller School of Medicine, Miami, FL, USA.

RESUMEN / SUMMARY: - underrecognized feature of this common genetic syndrome. Infection is the leading cause of mortality in DS. This infectious risk likely stems from underlying immunodeficiency compounded by their unique intrinsic anatomy. Furthermore, individuals with DS display a broad range of autoinflammatory and autoimmune diseases, spanning dermatologic, neurologic, and metabolic features, which are often difficult to treat with immunomodulators. Through real clinical vignettes of our patients, we will describe how we treat immune dysregulation in DS.

TÍTULO / TITLE: - Vaccination in individuals with Down syndrome: immune vulnerability, safety, efficacy and opportunities

REVISTA / JOURNAL: - NPJ Vaccines. 2026 May 19. doi: 10.1038/s41541-026-01489-7. Online ahead of print. Free article

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AUTORES / AUTHORS: - Bernard Khor et al.

INSTITUCIÓN / INSTITUTION: - Benaroya Research Institute at Virginia Mason, Seattle, WA, USA.

RESUMEN / SUMMARY: - Although individuals with Down syndrome (DS) remain highly vulnerable to severe infections, vaccination remains underutilized. Here we review, specific to people with DS, the safety and efficacy of vaccination, drivers of susceptibility to infection, and existing and emerging opportunities to improve vaccine response. We find that vaccines are generally safe and immunogenic in individuals with DS, although continued research is essential to improve vaccine efficacy and health outcomes.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE: - Systematic multi-omic deconvolution of the clinical heterogeneity of Down syndrome

REVISTA / JOURNAL: - Nat Commun. 2026 May 11. doi: 10.1038/s41467-026-72946-z. Online ahead of print. Free article

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AUTORES / AUTHORS: - Micah G Donovan et al

INSTITUCIÓN / INSTITUTION: - Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz, Aurora, USA

RESUMEN / SUMMARY: - Persons with Down syndrome, the genetic condition caused by trisomy 21, are at high risk of developing various co-occurring conditions affecting all major organ systems. Recent multi-omic studies have revealed the profound impacts of trisomy 21 on human biology, including strong effects on the transcriptome, proteome, metabolome, and immunome. However, it is unclear whether these changes are conserved effects of trisomy 21 versus effects associated with specific co-occurring conditions. Here we report a multi-omic investigation of 100 clinical phenotypes in a cohort of 356 individuals with Down syndrome, which identifies many phenotype-associated signatures of potential clinical significance. Obesity associates with the largest number of changes in the proteome and metabolome of persons with Down syndrome, with dysregulation of key hormonal, growth signaling, and neurotransmitter systems. Congenital heart defects associate with the strongest changes in the whole blood transcriptome, concurrent with interferon hyperactivity and immune remodeling. Key signatures dysregulated by trisomy 21 are exacerbated in those with seizure disorders, gastrointestinal conditions, and various cardiopulmonary diseases. These analyses implicate immune dysregulation as a driver of diverse clinical phenotypes in Down syndrome beyond canonical autoimmune disorders. Altogether, these results support the development of personalized medicine approaches for the clinical management of Down syndrome

TÍTULO / TITLE: - Loss of Proteostasis and Early-Onset Neurodegeneration in Down Syndrome: From Mechanisms to Interventions

REVISTA / JOURNAL: - Antioxidants (Basel). 2026 Apr 21;15(4):520. doi: 10.3390/antiox15040520. Free PMC article.

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AUTORES / AUTHORS: - Antonella Tramutola et al.

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences "A. Rossi-Fanelli", Sapienza University of Rome, Piazzale A. Moro 5, 00185 Roma, Italy.

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy 21, is the most prevalent genetic condition associated with accelerated aging and near-universal development of early-onset Alzheimers disease (AD). Beyond gene-dosage imbalance, trisomy 21 induces widespread transcriptional, metabolic, and proteomic remodeling that establishes a chronic state of proteotoxic and oxidative stress from early development. Increasing evidence identifies DS as a disorder of proteostasis network failure, in which sustained translational pressure, redox disequilibrium, and degradation pathway insufficiency progressively erode cellular resilience. In the DS brain, persistent endoplasmic reticulum stress with PERK-dominant signaling, mitochondrial dysfunction characterized by oxidative phosphorylation deficits and excessive reactive oxygen species production, and impaired antioxidant responses create a highly vulnerable intracellular environment. Concomitantly, degradation systems become compromised: proteasomal catalytic activity declines, ubiquitin-dependent signaling is remodeled, and chronic mTOR hyperactivation suppresses autophagic and mitophagic flux. The coordinated impairment of the ubiquitin-proteasome system and autophagy establish a feed-forward cycle of proteotoxic accumulation and redox amplification. Within this framework, Alzheimer-like neuropathology in DS emerges not solely from amyloid precursor protein triplication but as the late manifestation of decades-long proteostasis exhaustion. Therapeutic strategies aimed at restoring global proteostasis and redox balance may therefore represent a more effective systems-level approach to mitigating neurodegeneration in DS.

TÍTULO / TITLE: - Early dynamics of the genome in Down syndrome

REVISTA / JOURNAL: - Science. 2026 Apr 23;392(6796):360-361. doi: 10.1126/science.aeh0065. Epub 2026 Apr 23.

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AUTORES / AUTHORS: - Tarik Haydar, Zhen Li

INSTITUCIÓN / INSTITUTION: - Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA, USA.

RESUMEN / SUMMARY: - Cell type-specific early hallmarks of Down syndrome are uncovered.

Neurobiology - Neurobiología

TÍTULO / TITLE: - A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex

REVISTA / JOURNAL: - Science. 2026 Apr 23;392(6796):eaea1259. doi: 10.1126/science.aea1259. Epub 2026 Apr 23.

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AUTORES / AUTHORS: - Celine K Vuong et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic cause of intellectual disability, yet the cellular and molecular mechanisms driving this developmental disorder remain unclear. In this study, we profiled human mid-gestation neocortex with snMultiomics across 26 donors. We observed a reduction in neural progenitors and corticothalamic neurons and an increase of intratelencephalic neurons, accompanied by accelerated neuronal specification. We uncovered widespread changes in gene expression, chromatin accessibility, and cell interaction networks affecting neurogenesis, specification, and maturation; and in gene-regulatory networks directing these processes, including those downstream of human chromosome 21 (HSA21)-encoded genes. We identified cell-specific molecular pathways shared with other neurodevelopmental disorders and enrichment of genome-wide association study signals in DS-altered chromatin. Together, our data revealed a cascade of molecular dysregulation outlining the earliest steps in DS, providing a foundation for future therapeutic targets.

TÍTULO / TITLE: - Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex

REVISTA / JOURNAL: - Science. 2026 Apr 23;392(6796):eaea1549. doi: 10.1126/science.aea1549. Epub 2026 Apr 23.

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AUTORES / AUTHORS: - Ryan D Risgaard et al.

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

RESUMEN / SUMMARY: - Down syndrome is a genetic condition that causes intellectual disability and is characterized by early-onset delays in motor, cognitive, and language development. The molecular mechanisms underlying these neurodevelopmental impairments remain poorly understood. We used single-nucleus multiomic sequencing to simultaneously profile gene expression and chromatin accessibility in the Down syndrome prefrontal cortex during early postnatal development, a critical period for synaptogenesis, neural maturation, and developmental neuroimmune interactions. Our findings reveal widespread dysregulation of chromatin accessibility and gene expression, with deficits spanning metabolic and synaptic pathways, oligodendrocyte lineage progression, and a pronounced neuroinflammatory signature. We present a molecular atlas of Down syndrome neuropathology at a critical stage of brain development, highlighting convergent neurodevelopmental and neurodegenerative pathways and informing potential targeted therapies for Down syndrome-associated neuroinflammation.

TÍTULO / TITLE: - Mapping the Brain Interaction Network of the Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) Targeted by Leucettinib-21 Using Affinity Chromatography

REVISTA / JOURNAL: - ACS Pharmacol Transl Sci. 2026 Apr 15;9(5):1204-1227. doi: 10.1021/acsptsci.6c00066. Free PMC artic

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AUTORES / AUTHORS: - Emmanuel Deau et al.

INSTITUCIÓN / INSTITUTION: - Perha Pharmaceuticals, Perharidy Research Centre, 29680 Roscoff, Bretagne, France

RESUMEN / SUMMARY: - Leucettinibs are substituted 2-aminoimidazolin-4-ones inspired by the marine sponge natural product Leucettamine B and developed as pharmacological inhibitors of DYRK1A (dual-specificity, tyrosine phosphorylation-regulated kinase 1A), a therapeutic target for indications such as Down syndrome, Alzheimers disease, Parkinsons disease, diabetes, myocardial infarction, etc. Leucettinib-21 is currently being tested in a phase 1 clinical trial. In this study, four different affinity chromatography-based approaches were developed to identify the rat brain targets of Leucettinib-21: (1) Leucettinib-21 (and its kinase-inactive isomer as control) immobilized on agarose beads, (2) immobilized metal affinity chromatography, (3) KinAffinity bead competition assays, and (4) immunoprecipitation with DYRK1A-specific antibodies. Altogether, these complementary methods (1) confirm known targets of Leucettinib-21, and identify (2) new protein kinases and nonkinases interacting with Leucettinib-21, (3) potential new partners of DYRK1A, and (4) pathways and cellular mechanisms potentially modulated by Leucettinib-21. These methods can be expanded to various cells and tissues from models of pathologies where Leucettinib-21 demonstrates efficacy.

TÍTULO / TITLE: - The role of choline in neurodevelopment

REVISTA / JOURNAL: - Pediatr Res. 2026 May 13. doi: 10.1038/s41390-026-05021-4. Online ahead of print.

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AUTORES / AUTHORS: - Nicholas C Rickman et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, UH Rainbow Babies & Childrens Hospital, Cleveland, OH, USA

RESUMEN / SUMMARY: - Choline was first declared to be an essential nutrient in 1998. Current research on choline intake has been sufficient for the Food and Nutrition Board of the National Academies of Science, Engineering & Medicine to establish a loose guideline, but more investigation into healthy choline intakes is necessary to clarify guidelines. Choline is intimately involved in human metabolism, as an essential precursor for cell membrane components such as phosphatidylcholine and sphingomyelin, lipoprotein and fatty acid trafficking, and the neurotransmitter acetylcholine. It plays an essential role in histone, RNA, and DNA methylation, creatine synthesis, and more. Choline-related pathologies have already been implicated in multiple severe developmental diseases, such as schizophrenia, Down syndrome, and neural tube defects, and age-related diseases such as Alzheimers. Choline supplementation has been shown to alleviate the symptoms of neurodevelopmental diseases, such as Fetal Alcohol Spectrum Disorder and neonatal hyperbilirubinemia. The choline intake by most adults is estimated to be less than the current recommendations. Choline supplementation, particularly for vulnerable populations such as pregnant women, preterm infants, and cystic fibrosis patients, requires further investigation to establish adequate recommendations and to fully elucidate the consequences of malnutrition. Outcomes of choline deficiency and supplementation, such as neurodevelopment, should be measured. IMPACT: What this article adds to the existing literature An up-to-date summary of the metabolism of choline A review of the role of choline in normal and abnormal neurodevelopment A concise description of sources of choline.

TÍTULO / TITLE: - Maternal Choline Supplementation in a Mouse Model of Down Syndrome and Alzheimers Disease Generates Unique Expression Profile Mosaics Within Three Hippocampal Excitatory Neuronal Populations

REVISTA / JOURNAL: - FASEB J. 2026 Apr 15;40(7):e71625. doi: 10.1096/fj.202504243R. Free PMC article.

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AUTORES / AUTHORS: - Melissa J Alldred et al

INSTITUCIÓN / INSTITUTION: - Center for Dementia Research, Nathan Kline Institute, Orangeburg, New York, USA.

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are at risk for early-onset Alzheimers disease (AD), marked by neurodegeneration in hippocampal and basal forebrain circuits. Early-life interventions offer therapeutic potential, including maternal choline supplementation (MCS). MCS improves cognitive outcomes and neuroplasticity in rodent models of neurodevelopmental and neurodegenerative disorders, yet cell-type specific molecular effects remain unknown. We investigated the effect of MCS upon the onset of septohippocampal degeneration at 6 months of age in the Ts65Dn mouse model of DS/AD. Using laser capture microdissection and single population RNA-sequencing, transcriptomic changes were profiled within hippocampal CA1 and CA3 pyramidal neurons and dentate gyrus granule cells comparing trisomic and disomic offspring. Bioinformatic analysis revealed MCS-mediated downregulation of apoptotic pathways and upregulation of cognition-related functions across all populations, alongside cell-specific responses. These findings highlight MCS as a promising strategy for modulating disease-relevant pathways in a hippocampal cell-type-specific manner during early neurodegeneration in DS/AD.

TÍTULO / TITLE: - Mapping the molecular effects of Down syndrome in the developing brain

REVISTA / JOURNAL: - Nat Rev Neurosci. 2026 May 12. doi: 10.1038/s41583-026-01050-4. Online ahead of print.

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AUTORES / AUTHORS: - Katherine Whalley

INSTITUCIÓN / INSTITUTION: - 1Nature Reviews Neuroscience.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Integrated Single-Cell and System Network Analysis: Exploring Cellular Communication Network Complexity and Signal Transmission Dysregulation in Down Syndrome Brain

REVISTA / JOURNAL: - Neuroinformatics. 2026 Apr 9;24(2):19. doi: 10.1007/s12021-025-09749-y.

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AUTORES / AUTHORS: - Xuehai Ma et al.

INSTITUCIÓN / INSTITUTION: - Xin jiang Key Laboratory of Mental Development and Learning Science, College of Psychology, Xinjiang Normal University, Urumqi, Xinjiang, 830017, China.

RESUMEN / SUMMARY: - Down syndrome (DS) is a widespread chromosomal disorder primarily associated with cognitive impairment and progressive neurodegenerative changes. Clinically, age 50 years is considered a pivotal turning point in the health trajectory of individuals with DS. Before this age, they primarily face developmental challenges including significant cognitive deficits and difficulties in social interaction. However, as they age, they increasingly exhibit more severe neurodegenerative changes, including Alzheimers disease (AD)-like cognitive decline and dementia symptoms. This study aimed to dissect intricate gene expression patterns in key neuronal cell types within the DS cerebral cortex and to examine how these patterns evolve with age. We conducted a detailed gene expression analysis of key neuronal cells, including inhibitory neurons, excitatory neurons, microglia, and oligodendrocyte progenitor cells, in individuals with DS. Additionally, the bioinformatics tool NeuronChat was employed to investigate the intercellular communication networks in the DS brain. Individuals with DS were divided into younger and older groups, with age 50 years as the boundary. Through comparative analysis, our findings indicated that aging in DS is associated with exacerbated neuronal dysfunction, decreased energy metabolism in microglia, and increased neurodegenerative traits in oligodendrocyte progenitor cells. Notably, compared to the control group, the DS brain showed increased complexity in cellular communication networks, reflecting an effort to maintain adaptability during syndrome progression. However, this increased complexity does not translate into effective signal transmission, suggesting significant disruptions in the function and structure of the neural network. This study provides a deeper understanding of cell function abnormalities and signal transmission irregularities in DS. By integrating single-cell and systemic network analyses, we revealed complex pathophysiological mech

TÍTULO / TITLE: - Restoring RCAN1 dosage mitigates sleep and EEG abnormalities in a Down syndrome model

REVISTA / JOURNAL: - Neurobiol Dis. 2026 Jun 1:223:107375. doi: 10.1016/j.nbd.2026.107375. Epub 2026 Apr 6. Free article

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AUTORES / AUTHORS: - Peter Cain et al.

INSTITUCIÓN / INSTITUTION: - Institute for Behavioral Genetics, University of Colorado, Boulder, CO 80309, USA.

RESUMEN / SUMMARY: - Background: Approximately 60% of individuals with Down syndrome (DS) have sleep abnormalities independent of breathing obstruction. Previously, we demonstrated increased wakefulness and decreased NREM sleep in the Dp(16)1Yey+ (Dp16) DS model mouse. In this study, we determined if increased RCAN1 levels mediate sleep disruption in Dp16 mice. Methods: We examined sleep architecture and electroencephalogram (EEG) patterns in young and aged Dp16 mice in which we genetically restored disomic levels of Rcan1 (Dp16 Rcan12N, shortened to Dp16-2N). Approximately equal numbers of male and female mice were used for each age group. We also examined gene expression and anxiety-like behaviors in aged mice. Results: We found that young Dp16 and Dp16-2N mice differ slightly from WT mice in sleep architecture and EEG characteristics. However, with age, more severe sleep deficits manifest in Dp16 mice and are partially rescued by Rcan1 dosage correction. Aged Dp16 mice exhibit significantly less mean EEG total power across different sleep states and activity phases. In contrast, WT and Dp16-2N mice show no age-related differences across states and stages. Aged Dp16 mice diverge from aged WT mice across multiple wake and sleep frequency bands during dark and light phases. In contrast, the EEG characteristics of aged Dp16-2N differ only modestly from those of WT mice. Conclusions: Combined, our data demonstrate that restoring Rcan1 gene levels mitigates some sleep architecture disruptions and EEG differences observed in aged Dp16 mice.

Neurology - Neurología

TÍTULO / TITLE: - Bilateral persistence of the proatlantal intersegmental arteries in moyamoya syndrome: illustrative case

REVISTA / JOURNAL: - J Neurosurg Case Lessons. 2026 May 25;11(21):CASE25974. doi: 10.3171/CASE25974. Free PMC article.

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AUTORES / AUTHORS: - Aaron Higginbotham et al.

INSTITUCIÓN / INSTITUTION: - University of Kansas School of Medicine, Kansas City

RESUMEN / SUMMARY: - Background: The persistent proatlantal intersegmental artery (PPIA) arises from the cervical internal carotid artery (ICA) and joins the vertebral artery near the foramen magnum. In moyamoya syndrome (MMS), such embryonic carotid-vertebrobasilar channels may influence collateralization and procedural strategy. The authors report bilateral PPIA identified concurrently with bilateral MMS. Observations: A 28-year-old woman with Down syndrome presented with sudden severe headache and unresponsiveness. CT showed bilateral intraventricular hemorrhage, a small left periatrial hemorrhage, and obstructive hydrocephalus; an external ventricular drain was placed. CT angiography demonstrated bilateral distal ICA and proximal middle cerebral artery/anterior cerebral artery narrowing concerning for MMS. Digital subtraction angiography revealed bilateral PPIA supplying the posterior circulation with extensive leptomeningeal and meningeal collateral vessels. A tortuous left posterior choroidal branch had no definite aneurysm or treatable lesion. The patient improved with CSF diversion and supportive care and was discharged on hospital day 19. Follow-up angiography confirmed advanced bilateral MMS and bilateral PPIA, and the choroidal finding was recharacterized as a vascular loop. Lessons: Bilateral PPIA in MMS is rare and clinically consequential. Precise angiographic mapping is essential due to the PPIAs potential to reshape anterior-posterior collateralization, affect bypass targeting and competitive flow risk, and influence endovascular access and surveillance planning. https://thejns.org/doi/10.3171/CASE25974.

TÍTULO / TITLE: - Common pathogenic mechanisms in the hippocampus across neurodegenerative dementias: Alzheimers disease, Down syndrome, and Parkinsons disease

REVISTA / JOURNAL: - NPJ Dement. 2026;2(1):32. doi: 10.1038/s44400-026-00075-x. Epub 2026 Apr 29. Free PMC article.

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AUTORES / AUTHORS: - Rene A J Crans et al.

INSTITUCIÓN / INSTITUTION: - Center for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Barcelona, Spain.

RESUMEN / SUMMARY: - Extensive evidence suggests overlapping pathological mechanisms in the brain of individuals with Parkinsons disease dementia, Down syndrome dementia, and Alzheimers disease. For these neurodegenerative dementias, we observed that the chronological age did not align with their biological age, which was determined based on hippocampal transcript levels (i.e., transcriptional age). Subsequently, we performed a transcriptomic analysis that corrected for the transcriptional age in the hippocampus of affected individuals, highlighting common underlying pathogenic mechanisms. There were 45 common differentially expressed genes (DEGs), whereas enriched functional terms were related to lysine N-methyltransferase activity and intermediate filament. Co-expression network analysis displayed a module that was significantly downregulated in the non-demented control group only. This module identified EHMT2 and LMNB2 as hub genes, which were also common DEGs. Overall, these findings uncover shared functional insights in the hippocampus, while specifically highlighting EHMT2 and LMNB2 as potential universal biomarkers or disease-altered targets across neurodegenerative dementias.

TÍTULO / TITLE: - EEG hyperscanning in intellectual disability: a scoping review with implications for cognitive stimulation therapy

REVISTA / JOURNAL: - Front Neuroergon. 2026 Apr 13:7:1757738. doi: 10.3389/fnrgo.2026.1757738.Free PMC article.

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AUTORES / AUTHORS: - Pavithra Pavithra et al

INSTITUCIÓN / INSTITUTION: - Trinity Centre for Ageing and Intellectual Disability, School of Nursing and Midwifery, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

RESUMEN / SUMMARY: - Electroencephalography (EEG) hyperscanning has emerged as a valuable method for examining social dynamics during group-based activities and may serve as a promising outcome measure in group interventions. Cognitive stimulation therapy (CST) is one such interventions shown to improve cognition and quality of life in people with dementia and has recently been adapted for individuals with intellectual disability (ID). However, the potential for obtaining objective neural markers of CST benefit via EEG and hyperscanning is yet to be explored. This scoping review aims to identify existing evidence and gaps related to the use of EEG within CST research for adults with ID by examining three relevant areas: (1) the use of individual EEG and hyperscanning to evaluate cognitive and social outcomes in CST; (2) the evidence base for individual and group-based CST in people with ID; and (3) the use of EEG to evaluate cognitive and social outcomes for people with ID. Following the PRISMA-ScR guidelines, studies were searched in CINAHL, MEDLINE, PsychInfo, and EMBASE. Our search focused on adult participants with ID and studies that used EEG for the purpose of evaluating cognitive or social outcomes. Currently, there are no studies that use EEG to evaluate CST in adults with ID. Following screening and eligibility assessment, no studies met the inclusion criteria for EEG and CST. Five studies were included for CST and ID, and 14 articles met criteria for EEG and ID. In total, 19 articles were included in the final review. The evidence base suggests that EEG has been successfully used to investigate neural mechanism in ID and Down Syndrome related Alzheimers disease. Existing CST research in ID remains largely feasibility-focused but some preliminary findings show cognitive benefits, enhanced enjoyment, and social connectedness. Our review shows that there is a large gap when it comes to any objective metrics for CST in general. Given that there is evidence of EEG studies including

TÍTULO / TITLE: - The Relationship Between Vestibular, Hearing, and Balance Outcomes in Individuals With Down Syndrome

REVISTA / JOURNAL: - Ear Hear. 2026 Apr 29. doi: 10.1097/AUD.0000000000001829. Online ahead of print.

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AUTORES / AUTHORS: - Casey Vandervelde et al

INSTITUCIÓN / INSTITUTION: - Boys Town National Research Hospital, Department of Hearing Research, Omaha, USA.

RESUMEN / SUMMARY: - Objectives: The purpose of this study was to determine the prevalence of vestibular dysfunction in individuals with Down syndrome (DS) and its relationship with audiometric and balance outcomes. Design: Participants were 27 individuals with DS (mean age: 23.3 yrs; range: 7 to 38 yrs) and 20 neurotypical controls (mean age: 23.3 yrs; range: 7 to 47 yrs). All participants completed otoscopy, audiometric testing, 226 Hz tympanometry, wideband acoustic immittance (absorbance), air and bone conduction cervical and ocular vestibular evoked myogenic potential (VEMP) testing, and the video head impulse test. Balance and gait testing included gait speed, Timed Up and Go, and the Single Leg Stance. Results: In the participants with DS, 35.2% of ears demonstrated some degree of vestibular dysfunction (i.e., absent cervical VEMP, absent ocular VEMP, or abnormal video head impulse test). A large degree of variability in both the severity (normal to profound) and type (sensorineural, conductive, and mixed) of hearing loss was found in participants with DS. VEMP response rates tended to be higher when using bone-conducted compared with air-conducted stimuli. Overall, vestibular loss was more prevalent in those with sensorineural hearing loss. Compared with participants in the neurotypical control group, participants with DS had significantly longer Timed Up and Go scores, slower gait speed in the fast condition, and poorer balance in the Single Leg Stance eyes open and eyes closed conditions. Conclusions: Findings from the present study confirm a large degree of heterogeneity in the severity and type of both hearing loss and vestibular dysfunction in individuals with DS. These findings represent, for the first time, a comprehensive vestibular assessment in individuals with DS. Approximately 1/3 of individuals with DS have some degree of vestibular involvement. Those with sensorineural hearing loss had higher rates of vestibular involvement. The presence of conductive hearing lo

TÍTULO / TITLE: - Prevalence and severity of sleep-disordered breathing in individuals with Down syndrome using a portable home-based diagnostic device: a pilot study

REVISTA / JOURNAL: - Sci Rep. 2026 May 20. doi: 10.1038/s41598-026-46328-w. Online ahead of print. Free article

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AUTORES / AUTHORS: - Miriam Yumi Matsui Yamaguchi et al.

INSTITUCIÓN / INSTITUTION: - Health Sciences Graduate Program, Santa Casa de Misericordia of Sao Paulo (FCMSCSP), Sao Paulo, Brazil.

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with craniofacial abnormalities, muscular hypotonia, and upper airway obstruction, factors that increase the risk of obstructive sleep apnea (OSA). Despite the high likelihood of sleep-disordered breathing in this population, diagnostic access remains limited, especially in low-resource settings. This study aimed to determine the prevalence and severity of sleep-disordered breathing in adolescents and adults with DS. This cross-sectional study included adolescents and adults with DS who underwent home type IV polygraphy (Biologix) and completed validated questionnaires assessing OSA risk and excessive daytime sleepiness. Anthropometric data were collected, and correlations with respiratory parameters were analyzed. OSA was highly prevalent, affecting 93% of participants. Mild to moderate OSA predominated (80%). Respiratory events were frequently accompanied by oxygen desaturation, with marked nocturnal hypoxemia (mean minimum SpO₂: 82.4%). Sleep was inefficient and fragmented, with efficiency below 75% in most individuals. Neck circumference showed a significant correlation with nocturnal hypoxemia, whereas age and body weight did not. Subjective sleep questionnaires underestimated OSA severity compared with polygraphy. Sleep-disordered breathing appears to be highly prevalent and physiologically relevant in individuals with DS. Home type IV polygraphy proved feasible, well-accepted, and clinically informative for this population. These findings highlight the importance of accessible diagnostic strategies to improve early detection and management of OSA in individuals with DS.

Orthopedics - Ortopedía

TÍTULO / TITLE: - A Tale of Three CTs: A Hip Fracture in a Patient with Down Syndrome Uncovers an Endocrinologic Iceberg

REVISTA / JOURNAL: - Isr Med Assoc J. 2026 May;28(5):320-323. Free article

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AUTORES / AUTHORS: - Chen Faibis et al.

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine C, Sheba Medical Center, Tel Hashomer, Israel, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

RESUMEN / SUMMARY: -

Physiotherapy - Fisioterapia

TÍTULO / TITLE: - Promoting healthy behaviours in young people with intellectual disabilities: a pilot RCT of an mHealth-based intervention targeting physical activity and sedentary behaviour

REVISTA / JOURNAL: - Disabil Rehabil Assist Technol . 2026 May 15:1-13. doi: 10.1080/17483107.2026.2671844. Online ahead

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AUTORES / AUTHORS: - B Sa�udo et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Education and Sport, University of Seville, Seville, Spain.

RESUMEN / SUMMARY: - Introduction and Purpose: Young individuals with intellectual disabilities (ID) often exhibit low levels of physical activity and high sedentary behaviour, increasing their risk of chronic health conditions. Digital health interventions may offer promising alternatives, although evidence in this population remains limited. This pilot randomised controlled trial (RCT) examined the effectiveness of a gamified mobile health (mHealth) intervention (IDHEApp) in promoting physical activity and reducing sedentary behaviour among youth with ID. Methods: 38 participants with ID (mean age = 20.4 years) were recruited in Rome (Italy) and Rijeka (Croatia) and randomised to an 8-week mHealth intervention or a control condition. Physical activity and sedentary behaviour were assessed using Fitbit Charge 6 devices. The intervention delivered daily gamified activity challenges and feedback tailored to users cognitive needs. Effects were analysed using ANCOVA with post-intervention values as outcomes and baseline values as covariates, using complete-case analyses. Results: A significant between-group effect was observed for daily step count in favour of the intervention group (adjusted mean difference = 2,326.72 steps/day, 95% CI:763.97 to 3,461.23; p = 0.001; d = 0.97). No significant between-group effects were found for light, moderate, or vigorous physical activity, or for sitting and standing time; these outcomes were considered exploratory. Interaction analyses did not reveal differential effects between participants with Down syndrome and those with other forms of ID. Conclusion: This pilot RCT suggests that a gamified mHealth intervention is feasible and may increase daily ambulatory activity in young people with ID. Although effects were limited to step count, the findings provide hypothesis-generating evidence to inform future adequately powered trials in this underserved population.

TÍTULO / TITLE: - Factors associated to motor development in Down syndrome patients

REVISTA / JOURNAL: - Bol Med Hosp Infant Mex. 2026;83(2):94-101. doi: 10.24875/BMHIM.25000020. Free article

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AUTORES / AUTHORS: - Alan A Perez-Arzola et al

INSTITUCIÓN / INSTITUTION: - Servicio de Genetica Medica, Hospital General de Zona No. 20, Instituto Mexicano del Seguro Social (IMSS), Puebla.

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is characterized by dysmorphia, psychomotor delay, and systemic conditions, with a prevalence of 1:700 live births. Around 80% of newborns with DS exhibit hypotonia, which is the main cause of gross motor delay. In these children, motor milestones are considered atypical because it is delayed compared to children in the general population. The aim is to describe factors associated to motor development in patients with DS. Methods: An observational, analytical, cross-sectional, and ambispective study was conducted at the Medical Genetics Service of the General Hospital of Zone No. 20, Puebla. Age, sex, cytogenetic mechanism, prematurity, breastfeeding, socioeconomic level, congenital heart disease, thyroid function, and rehabilitation for motor development were analyzed. Descriptive and inferential statistical analysis was performed with the chi square test to identify variables associated with the motor development of patients with DS. Results: Forty patients were analyzed, 22 (55%) male and 18 (45%) female, a median age of 32.5 months; 22 individuals (55%) had regular trisomy 21 and 18 (45%) mosaicism; 37 individuals (92.5%) presented developmental motor delay and 3 (7.5%) reached the milestones. A statistically significant difference was found between having or not having hypothyroidism and milestone achievement (p = 0.046). Conclusions: This study found that patients with DS have delayed motor development and that there is a statistically significant difference between hypothyroidism and motor milestones, highlighting that hypothyroidism did not limit motor development in patients with DS who reached their motor milestones.

TÍTULO / TITLE: - Pilot evaluation of a dance-based physical activity program for adults with Down syndrome

REVISTA / JOURNAL: - Transl J Am Coll Sports Med. 2026 Spring;11(2):e000362. doi: 10.1249/tjx.0000000000000362. Free

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AUTORES / AUTHORS: - Julianne G Clina et al.

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

RESUMEN / SUMMARY: - Introduction: Adults with Down syndrome (DS) face barriers to traditional exercise modalities due in part to a lack of interest or enjoyment, desire for social connectedness during exercise, and difficulty completing traditional exercise movements because of physical limitations. Dance provides a potential alternative to conventional exercise and may address some of these barriers. The purpose of this study was to assess the feasibility, usability, safety, and energy expenditure of a 12-week dance-based exercise intervention in adults with DS. Methods: Participants completed a 12-week remotely-delivered, dance-based exercise intervention. Classes were 35 minutes each and held twice weekly. Feasibility was assessed via retention and attendance. Usability was assessed via a satisfaction survey, with all measures assessed on a 5-point Likert scale, and safety was based on the number of adverse events. Energy expenditure was assessed using indirect calorimetry. Results: Twenty participants (mean age 28.3 years, 70% female) enrolled in the intervention, and study retention was 100%. Participants attended 21.7 out of 24 sessions (90.4%). Satisfaction scores were high, with overall satisfaction rated as 4.8±0.4 (100% rating 4 or above). There were no intervention-related adverse events reported. Sixteen participants completed an assessment of energy expenditure, with the average metabolic equivalents (METs) of 4.8 ± 1.0, exceeding the threshold for moderate intensity (3.0 METs). Conclusion: Intervention retention, attendance, and satisfaction were all high and energy expenditure met the threshold for moderate intensity. Remotely-delivered dance may represent a feasible and effective exercise modality for adults with DS to increase overall exercise participation and should be tested in a larger intervention.

TÍTULO / TITLE: - Design and Development of Building Opportunities for Optimal physical activity Skills Training in children with Down Syndrome (BOOST-DS) Programme and its Content Validation through Consensus using Mo

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 May 22. doi: 10.1111/jir.70119. Online ahead of print.

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AUTORES / AUTHORS: - V Megha Jain et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Manipal College of Health Professions, Manipal Academy of Higher Education, Manipal, Udupi, Karnataka, India.

RESUMEN / SUMMARY: - Background: Children with Down syndrome (DS) often do not meet daily physical activity requirements, which affects their participation in daily activities and overall quality of life. Structured physical activity programmes could address these issues, but accessible, participation-based activities are limited. Method: The Building Opportunities for Optimal physical activity Skills Training in children with Down Syndrome (BOOST-DS) programme was designed, developed and content validated in three phases. A conceptual framework was developed from the relevant literature, followed by the identification physical activity components through brainstorming and discussions. The final content validation phase involved expert consensus using a modified Delphi method. Results: The BOOST-DS identified 62 active play items across six domains of physical activity. After three Delphi rounds, 53 items achieved expert agreement. Conclusion: The content-validated BOOST-DS programme includes 53 play-based activities across six physical activity domains to enhance participation outcomes in children with DS.

TÍTULO / TITLE: - Aerobic Training for Obesity Management in Individuals with Down Syndrome: A Bibliometric and Meta-Analyses

REVISTA / JOURNAL: - Healthcare (Basel). 2026 Apr 15;14(8):1052. doi: 10.3390/healthcare14081052. Free PMC article.

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AUTORES / AUTHORS: - Sieun Park, Seung Kyum Kim

INSTITUCIÓN / INSTITUTION: - Department of Sports Science, Seoul National University of Science and Technology, Seoul 01811, Republic of Korea.

RESUMEN / SUMMARY: - Background/Objectives: Down syndrome (DS), the most common chromosomal disorder, is associated with obesity and related metabolic complications. Although physical activity (PA) improves health outcomes in individuals with DS, global research trends in this field have not been systematically synthesized, and evidence regarding the effects of aerobic training (AT) on obesity-related parameters in individuals with DS remains inconsistent. This study incorporated a dual bibliometric and meta-analytical approach. Methods: First, the bibliometric analysis included 321 original research articles published between 2001 and 2024, retrieved from Scopus, Web of Science, and PubMed. Second, a meta-analysis of 15 randomized controlled trials (n = 477) was conducted to examine the effects of AT on obesity-related parameters, including body weight (BW), body mass index (BMI), fat mass (FM), waist circumference (WC), and waist-to-hip ratio (WHR) in individuals with DS. Results: Keyword co-occurrence and collaboration network analyses revealed a notable increase in research output since 2018, with "adolescent," "obesity," and "intellectual disability" the most co-occurring keywords associated with DS and PA. "Obesity" emerged as the most prominently growing keyword associated with DS and PA. A meta-analysis concluded that AT reduced FM (standardized mean differences [SMD] = -0.44; p < 0.001) and WC (SMD = -0.39; p < 0.01), while subtle changes in BW, BMI, and WHR were found. These findings suggest that AT improves body composition, particularly reducing central adiposity, even without changes in traditional weight-based metrics. Conclusions: Our findings demonstrate that AT can be an effective non-pharmacological strategy for improving body composition in individuals with DS and obesity and highlight the urgent need to shift clinical and research paradigms toward multidimensional, individualized health strategies that support PA and healthy body composition throughout the lifespan.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE: - Inclusion of adoption as a pregnancy management option in prenatal genetic counseling practice

REVISTA / JOURNAL: - J Genet Couns. 2026 Jun;35(3):e70229. doi: 10.1002/jgc4.70229

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AUTORES / AUTHORS: - Emma Billings et al.

INSTITUCIÓN / INSTITUTION: - Graduate School of Biomedical Sciences, The University of Texas MD Anderson Cancer Center UTHealth Houston, Houston, Texas, USA.

RESUMEN / SUMMARY: - The current study assessed prenatal genetic counselors experiences, comfort levels, and preparedness in discussing adoption as a pregnancy management option following a prenatal diagnosis of a non-life-limiting anomaly and/or genetic condition. This study also evaluated factors influencing adoption counseling and characterized adoption-specific education in genetic counseling program (GCP) curricula, serving as an updated review since the landscape of adoption education in GC practice was last characterized over a decade ago, which revealed substantial variability in both adoption-specific education in genetic counseling program (GCP) curricula and the discussion of pregnancy management options with patients in prenatal practice. An anonymous online survey was distributed to board-certified/eligible genetic counselors with prenatal experience in the U.S. and Canada (N = 148). Quantitative and qualitative data were analyzed using descriptive statistics, and statistical tests including Mann-Whitney U, Kruskal-Wallis, Fishers exact, and multivariable ordinal logistic models (StataCorp, 2021) to determine statistical significance (p < 0.05). Only 32% of participants reported adoption-specific education in their GCP curriculum. Counselors were least comfortable discussing adoption (80% somewhat/very comfortable) compared to abortion (94%) and parenting (97%). Comfort levels increased with years of experience (OR = 1.12, 95% CI [1.06-1.19]) and when certain adoption resources were identified in prenatal practice (e.g., agencies, support groups). Key factors influencing frequency of adoption discussions included direct patient inquiries (91%) and abortion restrictions in restrictive U.S. states (p < 0.001). The studys findings highlighted a persistent lack of adoption-specific educational opportunities and discomfort with counseling on adoption as a pregnancy management option. Therefore, targeted training, particularly experiential learning (e.g., patient panels, guest le

TÍTULO / TITLE: - Opportunities for antenatal medical treatment of genetic conditions: the earlier, the better

REVISTA / JOURNAL: - Pediatr Res. 2026 May 6. doi: 10.1038/s41390-026-05044-x. Online ahead of print.

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AUTORES / AUTHORS: - Diana W Bianchi

INSTITUCIÓN / INSTITUTION: - Section on Prenatal Genomics and Fetal Therapy, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

RESUMEN / SUMMARY: - Advances in genomic technologies, particularly massively parallel sequencing of cell-free fetal DNA, have transformed prenatal screening and created opportunities for fetal therapies. First-tier screening for trisomy 21 (T21) now enables early identification of affected fetuses, raising the possibility of prenatal intervention. Down syndrome (DS) is increasingly recognized not only as a neurodevelopmental condition but also as an interferon-driven disorder of immune dysregulation. Preclinical studies using human cellular models and trisomic mice demonstrated abnormalities in oxidative stress and inflammatory pathways. Connectivity Map-guided identification of apigenin, a naturally occurring flavonoid, showed partial normalization of gene expression, reduced neuroinflammation, and improved hippocampal-dependent learning in a mouse model, supporting the concept that atypical fetal brain development in T21 may be modifiable. Parallel human studies have confirmed chronic hypercytokinemia and autoimmunity in DS, and postnatal treatment with JAK inhibitors has shown early clinical benefit. A similar therapeutic paradigm is emerging for cystic fibrosis, where noninvasive prenatal testing detects CFTR variants and highly effective CFTR modulators are increasingly used during pregnancy. Early reports suggest that in utero exposure may ameliorate fetal complications such as meconium ileus. Together, these advances support a framework in which selected genetic disorders may be treatable beginning in fetal life. IMPACT: Advances in engineering and computational science, coupled with new biological and genomic knowledge, have led to novel prenatal opportunities to improve child health and treat disease.

TÍTULO / TITLE: - [Maternal serum markers profiles for Down syndrome: Review of comments and actionable recommendations]

REVISTA / JOURNAL: - Gynecol Obstet Fertil Senol. 23:S2468-7189(26)00112-1. doi: 10.1016/j.gofs.2026.04.002.. Free articl

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AUTORES / AUTHORS: - Gilles Renom et al.

INSTITUCIÓN / INSTITUTION: - Laboratoire de depistage perinatal, centre de biologie pathologie genetique, CHU, CS 70002, 59037 Lille cedex, France. Electronic

RESUMEN / SUMMARY: - In France, for the vast majority of patients, screening for Down syndrome using circulating cell-free fetal DNA is contingent upon prior assessment of maternal serum markers and calculation of a specific risk estimate for this aneuploidy. Certain marker profiles may also suggest other fetal or maternal pathologies. This article therefore aims: (i) to clarify and explain any comments that may appear in laboratory reports; (ii) to propose a clinical interpretation and a procedure to be followed for the monitoring of the considered pregnancy. It updates a first article published in 2014 and, like its predecessor, reflects broad consensus among the biologists authorised to perform this screening.

Psychiatry - Psiquiatría

TÍTULO / TITLE: - A challenging case of Down syndrome regression disorder

REVISTA / JOURNAL: - Arq Neuropsiquiatr. 2026 Aug;84(8):1-5. doi: 10.1055/s-0046-1819661. Epub 2026 May 12.

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AUTORES / AUTHORS: - Leticia Klabinske Marques Monteiro et al.

INSTITUCIÓN / INSTITUTION: - Universidade Federal de Pernambuco, Empresa Brasileira de Serviços Hospitalares, Hospital das Clinicas, Serviço de Neurologia, Recife PE, Brazil

RESUMEN / SUMMARY: - Down syndrome regression disorder (DSRD) is a rare cause of neuropsychiatric regression observed in previously-healthy individuals with Down syndrome (DS). There have been reports of brain iron accumulation in the basal ganglia of patients with DS and DSRD, although the underlying etiology remains unclear. The current study aims to report, through detailed neuroimaging, laboratory tests, and clinical data findings, the case of a patient with DS who experienced a significant loss of abilities, accompanied by neuroimaging findings indicative of abnormal brain iron accumulation. While an extensive investigation with blood, cerebrospinal fluid (CSF), and genetic markers was unremarkable, magnetic resonance imaging (MRI) scans revealed abnormal iron deposition and calcifications in the globus pallidus. The abnormal iron accumulation in the basal ganglia of patients with DSRD could be a potential neuroimaging marker for this condition.

TÍTULO / TITLE: - An Examination of the Cognitive and Behavioural Features Associated With Down Syndrome Regression Disorder

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 May 10. doi: 10.1111/jir.70118. Online ahead of print.

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AUTORES / AUTHORS: - Mary Godfrey et al

INSTITUCIÓN / INSTITUTION: - Kennedy Krieger Institute, Baltimore, Maryland, USA.

RESUMEN / SUMMARY: - Background: Down syndrome regression disorder (DSRD) is a rare phenomenon of regression impacting individuals with Down syndrome (DS), occurring in adolescence to early adulthood and characterized by acute-to-subacute deterioration of functioning. Cognitive and behavioural phenotypes associated with DSRD have been examined using physician checklists but not yet through direct assessments or caregiver questionnaires. The goal of this initial study was to explore the cognitive and behavioural features of those with DS and regression (DS+regression) through direct assessment and informant questionnaires. Methods: A total of 25 individuals (DS+regression n = 13 and DS n = 12) participated in the study. Participants were administered a standardized measure of intellectual functioning, and caregivers completed questionnaires assessing executive functioning, mood, and adaptive functioning. Results: The two groups did not significantly differ on a standardized measure of intellectual functioning, although these results were based upon a reduced sample size (DS+regression n = 8), which limited interpretability. Results tentatively suggest that caregivers of those with DS+regression endorsed concern for executive functioning, mood and adaptive functioning in comparison to those without regression. Conclusions: This study provides emerging evidence of cognitive and behavioural features reported by caregivers that may be associated with DSRD, with the goal of informing future studies with larger sample sizes. Our findings also emphasize the importance of evaluations for patients with DSRD, and the utility of caregiver-report measures to identify symptoms of regression for treatment planning.

TÍTULO / TITLE: - Letter: Catatonia Treatment in Down Syndrome Regressive Disorder with Repeated Vineland Assessment: A Case Report

REVISTA / JOURNAL: - J Child Adolesc Psychopharmacol. 2026 May;36(4):247-249. doi: 10.1177/10445463261438764. . Free PMC

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AUTORES / AUTHORS: - Niki M Harris et al.

INSTITUCIÓN / INSTITUTION: - Vanderbilt Brain Institute, Vanderbilt University, Nashville, Tennessee, USA.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Practice Patterns and Barriers in the Assessment and Treatment of Autism Spectrum Disorder in Children With Down Syndrome

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 May 8. doi: 10.1111/jir.70117. Online ahead of print.

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AUTORES / AUTHORS: - Noemi Alice Spinazzi et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Childrens Specialized Hospital, New Brunswick, New Jersey, USA.

RESUMEN / SUMMARY: - Background: Autism spectrum disorder (ASD) is common in individuals with Down syndrome (DS), with an estimated prevalence of 16%-18%. However, receiving a dual diagnosis of Down syndrome and ASD (DS + ASD) is often delayed. Little evidence exists on the path to ASD diagnosis nor interventions to support individuals with DS + ASD. Barriers to diagnosis and treatment for this unique patient population have yet to be described. This study explores clinicians practices and perceptions regarding the diagnosis and treatment DS + ASD, and the barriers their patients face in connecting to recommended evaluations and services. Methods: The study used an anonymous web-based survey developed by a group of physicians, psychologists and researchers who work with individuals with DS, ASD and DS + ASD. The survey queried clinicians from various specialties about their practice patterns regarding assessment of suspected ASD in individuals with DS. The survey inquired about treatment recommendations for DS + ASD and perceived barriers to connecting families with evaluations and services. Data analysis involved descriptive statistics and Mann-Whitney U tests. Results: Most respondents believe diagnosing ASD in individuals with DS significantly impacts management. Challenges were reported in accessing diagnostic evaluations, with heavy reliance on highly specialised DS and ASD clinics. Communication impairment (n = 64, 65%), aggressive behaviours (n = 38, 39%), self-injurious behaviours (n = 33, 34%) and adaptive skills (n = 27, 28%) are priority targets for intervention, and applied behavioural analysis (ABA) (n = 80, 82%), speech therapy through insurance (n = 60, 61%), augmentative and alternative communication evaluation through insurance (n = 59, 60%), and occupational therapy through insurance (n = 57, 58%) are the most frequent referrals following a diagnosis of DS + ASD. All respondents identified multiple barriers to care for individuals with DS + ASD, including waitlists,

TÍTULO / TITLE: - Adaptive and Maladaptive Behaviours and Their Cognitive Correlates in Aging Adults With Down Syndrome

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 May;39(3):e70234. doi: 10.1111/jar.70234. Free PMC article.

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AUTORES / AUTHORS: - Yingying Yang et al

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Montclair State University, Montclair, New Jersey, USA

RESUMEN / SUMMARY: - Background: Longer life expectancy in Down syndrome (DS) has shifted concern to age-related declines in everyday functioning. Adaptive and maladaptive behaviours are pivotal to quality of life, yet little is known about their patterns in older adults with DS. Method: Data from 259 cognitively stable adults (25-72 year) in the Alzheimers Biomarkers Consortium-DS were analysed. Adaptive behaviour (Vineland-3) and maladaptive behaviour (Reiss Screen) were analysed and then regressed on age, intellectual disability level, and cognitive tests. Results: Higher age and greater disability predicted poorer adaptive functioning, but effects waned after cognition was included. General cognition, cued-recall memory, and inhibitory control independently predicted adaptive skills. Maladaptive behaviours were rare, lacked cognitive or demographic predictors, and correlated negatively with adaptive scores. Conclusions: By identifying strengths, vulnerabilities, and predictors of behavioural functioning, this study offers insight into future clinical and caregiving strategies for aging adults with DS.

Quality of life - Calidad de vida

TÍTULO / TITLE: - Experiences of caregivers and healthcare providers regarding health services for children with Down syndrome in Karachi; Pakistan

REVISTA / JOURNAL: - PLOS Glob Public Health. 2026 Apr 30;6(4):e0006225. doi: 10.1371/journal.pgph.0006225.Free PMC arti

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AUTORES / AUTHORS: - Zeeluf M Qaisar et al.

INSTITUCIÓN / INSTITUTION: - School of Nursing and Midwifery, The Aga Khan University, Karachi, Pakistan.

RESUMEN / SUMMARY: - This study aimed to investigate the experiences and perceptions of caregivers seeking healthcare services for children with Down Syndrome, and those of healthcare providers offering these services in Karachi, Pakistan. A total of 23 In-depth interviews were conducted with the study participants comprising of 10 caregivers (mothers and fathers) and 13 healthcare providers (paediatricians and therapists). Participants were selected through purposive sampling and interviewed using a semi-structured interview guide at a private NGO and a tertiary care hospital. The collected data underwent deductive content analysis, guided by the socio-ecological framework, to comprehensively explore the various factors. Experiences clustered across socio ecological levels. Intrapersonally, caregivers moved from shock and grief to faith based acceptance that sustained caregiving. Interpersonally, delayed/missed diagnosis, inadequate antenatal recognition, and scarce post diagnostic counselling forced families to self navigate care amid inconsistent provider engagement. Organizationally, high costs prompted reliance on NGOs; limited specialized services, long waits, and therapist burnout constrained individualized therapy. Community factors included service concentration in Karachi, long travel/relocation, financial burden, and pervasive stigma that curtailed social inclusion and lowered parental expectations. Policy gaps included absent DS specific clinical/counselling guidelines and poor epidemiologic data; participants prioritized a national registry to enable follow up and coordination. Education was a dominant, unmet need restricted by school policies and costs and often overshadowed health concerns. This study emphasizes the urgent need for system-level reforms and coordinated interventions to improve care pathways for children with Down syndrome in Pakistan. These changes are crucial for ensuring equitable access to timely, quality care for affected families, improving health out

TÍTULO / TITLE: - Strengthening health-care pathways for people with Down syndrome

REVISTA / JOURNAL: - Lancet Healthy Longev. 2026 May 26:100850. doi: 10.1016/j.lanhl.2026.100850.Free article

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AUTORES / AUTHORS: - Katie Greenland et al.

INSTITUCIÓN / INSTITUTION: - International Centre for Evidence in Disability, Department of Population Health, London School of Hygiene & Tropical Medicine, London, UK.

RESUMEN / SUMMARY: - People with Down syndrome are living longer than ever before because of improved management of concomitant health conditions. However, they continue to experience health inequalities across the life course, and health systems remain poorly equipped to meet the evolving and complex needs of adults with Down syndrome. Fragmented services, diagnostic overshadowing, absence of reasonable adjustments, and insufficient professional training about disability undermine health access, quality, outcomes, and autonomy. Families and caregivers of people with Down syndrome often bear a high burden of care, with inadequate support from health systems. This Review presents evidence that many of the health gaps encountered by adults with Down syndrome are avoidable through improvements in health systems. We propose practical, life-course principles for health-care professionals to strengthen health-care pathways for people with Down syndrome, informed by lived experience, policy guidance, and case studies. Promising practices include structured health-care transition from paediatric to adult care services, annual health checks, inclusive healthy lifestyle and rehabilitation programmes, workforce training, and supported decision-making approaches. Inclusive and adapted approaches are also required in specific specialities, such as sexual and reproductive health care, dementia care, and end-of-life planning, to meet the needs of people with Down syndrome. Strengthening health-care pathways to deliver person-centred, rights-based care for adults with Down syndrome is essential to optimise their health, wellbeing, and quality of life across the life course.

TÍTULO / TITLE: - Advancing health-care access to optimise health and quality of life for children and young people with Down syndrome worldwide

REVISTA / JOURNAL: - Lancet Child Adolesc Health. 2026 May 26:S2352-4642(26)00122-7. doi: 10.1016/S2352-4642(26)00122-7.

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AUTORES / AUTHORS: - Tracey Smythe et al.

INSTITUCIÓN / INSTITUTION: - Division of Physiotherapy, Department of Health and Rehabilitation Sciences, Stellenbosch University, Cape Town, South Africa.

RESUMEN / SUMMARY: - This Series paper describes the health inequities faced by children and young people with Down syndrome, and how health systems can be strengthened to meet these needs. Meta-analyses have shown that children and young people with Down syndrome face frequent health challenges, including, but not exclusively, increased rates of respiratory infections and poorer cancer outcomes. Important evidence gaps remain in the health needs and trajectories for children and young people with Down syndrome, despite this period of early life being a crucial period for intervention and development. Inclusive and accessible health systems are vital for children and young people with Down syndrome, and their families, to support good health and good health-care access. Yet, current health systems are failing to meet these needs. Families experience fragmented and uncoordinated care, and gaps in availability of essential services. Barriers, such as stigma, lack of knowledge and false assumptions, and diagnostic overshadowing, further limit the quality of care. Consequently, health systems are failing to maximise health and development for children and young people with Down syndrome. Core ways in which health systems should be optimised to better meet their needs include the accommodation of co-occurring conditions and broad-ranging functioning profiles, and provision of coordinated multidisciplinary care across paediatric and young adult years. Crucially, health-care providers must work more closely with children and young people with Down syndrome and their families, and offer connected and respectful care.

TÍTULO / TITLE: - Lifestyle intervention and cognitive outcomes in Down syndrome: a horizon 21 European Down syndrome consortium scoping review

REVISTA / JOURNAL: - J Neurodev Disord. 2026 Apr 21. doi: 10.1186/s11689-026-09694-0. Online ahead of print. Free articl

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AUTORES / AUTHORS: - Eimear McGlinchey et al

INSTITUCIÓN / INSTITUTION: - Trinity Centre for Ageing and Intellectual Disability, Trinity College Dublin, Dublin, Ireland.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - 24-hour movement behaviors of physical activity, screen time, and sleep in youth with down syndrome compared to typically developing peers

REVISTA / JOURNAL: - Acta Psychol (Amst). 2026 May 28:267:107123. doi: 10.1016/j.actpsy.2026.107123. Online ahead of pri

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AUTORES / AUTHORS: - Azeem Hussain et al.

INSTITUCIÓN / INSTITUTION: - Zilber School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, WI, USA.

RESUMEN / SUMMARY: - Background: Youth with Down syndrome (DS) tend to have a higher prevalence of obesity compared to their peers with typical development (TD). Physical activity, sleep and screen time are modifiable behaviors which can influence childhood obesity. To better understand an individuals activity, these behaviors should be examined concurrently versus independently over a 24-h period. Objective: To pilot the examination and comparison of physical activity, sleep, and screen and non-screen sedentary behaviors concurrently in a 24-h period, and determine if 24-h guidelines were met in a sample of youth with DS and peers with TD. Methods: This secondary data-analysis from a cross-sectional study included youth with DS and peers with TD. Parent reported 24-h activity logs were completed for 6 days. Total minutes spent in each behavior were calculated and the 24-h movement guideline recommendations were compared between groups using independent t-tests and chi-square analyses. Results: Youth with DS (n = 8) and youth with TD (n = 9) spent significantly different time in moderate-to-vigorous physical activity (t(15) = 2.334, p = 0.034). Light physical activity, non-screen and screen time sedentary behaviors, and sleep were comparable. Both groups met recommended guidelines for moderate-to-vigorous activity and sleep, however, screen time guidelines were only met by 50% of youth with DS and 22% of youth with TD. Conclusions: Youth with DS met two of the three recommended guidelines for the 24-h movement behaviors. By studying each behavior concurrently over a 24-h period, an increased understanding of activity is present and targeted changes can be made.

TÍTULO / TITLE: - Wireless, skin-interfaced multimodal sensing system for continuous psychophysiological monitoring-A wearable polygraph device

REVISTA / JOURNAL: - Sci Adv. 2026 May 15;12(20):eaed3162. doi: 10.1126/sciadv.aed3162. Epub 2026 May 13. Free PMC arti

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AUTORES / AUTHORS: - Sun Hong Kim et al.

INSTITUCIÓN / INSTITUTION: - Querrey Simpson Institute for Bioelectronics, Northwestern University, Evanston, IL 60208, USA

RESUMEN / SUMMARY: - Accurate, continuous monitoring of psychophysiological states is central to understanding stress and autonomic dysfunction across diverse medical contexts. Current approaches such as polygraphy and polysomnography rely on cumbersome, wired sensors that limit real-world utility and burden patients, particularly vulnerable populations such as infants. Here, we introduce a wireless, skin-interfaced multimodal sensing system capable of simultaneously recording cardiac, respiratory, electrodermal, and thermal signals in a time-synchronized manner. Leveraging compact and soft designs, the technology enables unobtrusive monitoring across controlled, clinical, and naturalistic settings. Validation studies performed in parallel with gold standard systems demonstrate high fidelity in quantifying stress responses during polygraph interviews, cognitive load tasks, and cold pressor tests. In pediatric sleep studies, the data reliably identify arousals, hypopnea, and apnea while revealing disease-specific autonomic signatures in infants with Down syndrome. Real-world deployment during emergency simulation training shows that multimodal stress signatures correlate inversely with performance, underscoring translational value in medical education. Machine learning analyses across all studies confirm that multimodal features outperform single-signal approaches in detecting stress and clinical events with high sensitivity and specificity. Collectively, these findings establish the technology as a next-generation wearable platform that bridges engineering innovation and clinical practice, offering mechanistic insight and diagnostic potential in stress medicine, sleep medicine, and beyond.

TÍTULO / TITLE: - Maternal experiences and family dynamics following Down syndrome diagnosis in Saudi Arabia

REVISTA / JOURNAL: - Front Psychol. 2026 Apr 10:17:1752134. doi: 10.3389/fpsyg.2026.1752134.Free PMC article.

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AUTORES / AUTHORS: - Nuha Alrayes et al

INSTITUCIÓN / INSTITUTION: - Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is a genetic condition characterized by developmental delays and congenital irregularities. Parents of children with DS face significant psychological challenges, with the method of diagnosis delivery critically influencing their initial reactions and long-term coping strategies. Objective: This study aimed to investigate the emotional impact on mothers following a DS diagnosis in their child. Methods: A cross-sectional study was conducted with 161 mothers of children with DS in Saudi Arabia. Participants completed a survey assessing demographic characteristics, emotional experiences upon diagnosis, and the impact on family and social life. Data were analyzed using descriptive statistics and Pearsons chi-square tests. Results: Most participants were Saudi nationals (80.5%). Most mothers were aged 30-40 years at childbirth, while their husbands were typically 40-50 years old. A substantial proportion of mothers (41.6%) reported marital tension, with 58.3% of these experiencing a weakened partner bond. Lack of emotional support from partners was reported by 63.3% of participants. Key correlations revealed that detailed diagnostic explanations were associated with reduced maternal self-blame (p = 0.007), while maternal acceptance correlated with decreased persistent anxiety (p = 0.0001). Conclusion: The findings highlight the critical importance of compassionate, clear diagnosis delivery and comprehensive support for mothers of children with DS. Healthcare providers should prioritize empathetic communication and provide adequate resources, while also encouraging mutual support between partners to mitigate stress and promote child acceptance. These measures are essential for improving family outcomes following a DS diagnosis.

TÍTULO / TITLE: - Multidimensional Sleep Health of Toddlers With Down Syndrome: A Descriptive Study Guided by the Pediatric Sleep Health Framework

REVISTA / JOURNAL: - Am J Occup Ther. 2026 Jul 1;80(4):8004205080. doi: 10.5014/ajot.2026.051493.

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AUTORES / AUTHORS: - Waad Aljurayyad et al

INSTITUCIÓN / INSTITUTION: - Waad Aljurayyad, MSc, OT, is PhD Student, Department of Occupational Therapy, School of Health and Rehabilitation Sciences, University of Pittsburgh, Pittsburgh, PA

RESUMEN / SUMMARY: - Importance: Sleep health supports child development and family well-being. Toddlers with Down syndrome experience elevated sleep difficulties, yet few studies have examined their sleep within a multidimensional framework. Objective: To apply the Pediatric Sleep Health framework (Peds B-SATED) to characterize multidimensional sleep health and sleep-related practices of toddlers with Down syndrome (12-36 mo). Design: Secondary analysis of cross-sectional descriptive data. Setting: Clinics and organizations serving families of children with Down syndrome. Participants: Twenty-four mothers of children with Down syndrome were recruited. Outcomes and measures: Parent-reported Brief Infant Sleep Questionnaire items mapped onto the Peds B-SATED domains (Behavior, Satisfaction, Alertness, Timing, Efficiency, Duration). Descriptive statistics summarized sleep profiles and parental practices. Results: Fifty percent of the sample demonstrated multidomain sleep difficulties; 33% had difficulties in a single domain, and 17% had none. Behavior was the most problematic domain (63%), followed by satisfaction and efficiency (29% each), timing (25%), and duration (13%). Most children had structured sleep behaviors (consistent bedtimes/routines ≥80%; falling asleep independently, 70%; limited prebedtime screen exposure, 67%) and high parental satisfaction. Most children woke up happy and took one daytime nap (>90%). Sleep timing and efficiency were characterized by early bedtimes (median lights-out 8 p.m.; median wake 7 a.m.), no night awakenings (71%), and mean sleep latency of 13.5 min. Mean 24-hr sleep duration was 12.5 hr.

TÍTULO / TITLE: - From classroom to the counter: exploring knowledge, attitudes, and practices toward Down syndrome among pharmacy students and pharmacists

REVISTA / JOURNAL: - BMC Med Educ. 2026 May 27. doi: 10.1186/s12909-026-09513-z. Online ahead of print. Free article

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AUTORES / AUTHORS: - Isra Dmour et al.

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutics and Pharmaceutical Technology, Faculty of Pharmaceutical Sciences, The Hashemite University, Zarqa, Jordan.

RESUMEN / SUMMARY: - Background: The worldwide prevalence of Down syndrome (DS) is increasing. Limited DS-specific information and dosing guidelines can hinder pharmacists ability to effectively respond to DS related inquiries. As accessible healthcare providers, pharmacists are well positioned to identify and address these challenges, yet their role in optimizing DS care remains underexplored. This study aimed at evaluating community pharmacists knowledge, confidence, and practices related to DS pharmacotherapy, and to identify training needs that can improve their role in optimizing medication management for individuals with DS. Methods: A cross-sectional online questionnaire was conducted among community pharmacists and pharmacy students to assess their knowledge, practices and confidence regarding DS pharmacotherapy. The survey included questions on educational background, experience with DS-related inquiries, and training needs. Data was analyzed using descriptive statistics, scoring, and tests for statistical significance. Results: Four hundred and two participants completed the study. The results revealed that a majority had limited familiarity with DS pharmacotherapy. Levels in managing medication needs for DS patients were generally low, particularly for prescription medications. More than 90% of participants support the integration of specialized courses, ongoing education, and pharmacist training within the pharmacy curriculum. Positive attitudes toward integrating DS-related content in the curriculum were reported by 94% of respondents. They also emphasized the active involvement of public authorities, collaboration with community organizations, expansion of clinical research, and greater use of social media to increase DS awareness and improve early healthcare access. Knowledge scores were highest for Clinical Causes, Symptoms and Treatment (12.90 ± 5.84; range - 14 to 14) and lowest for Causes and Prevalence (- 3.61 ± 3.04; range - 14 to 14), with modest scores for Preve

TÍTULO / TITLE: - Social Cognition in Toddlers, Children, and Adolescents With Down Syndrome: A Scoping Review

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 Mar;39(2):e70215. doi: 10.1111/jar.70215.

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AUTORES / AUTHORS: - Magdalena Mu�oz-Montes et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Education, Pontificia Universidad Catolica de Chile, Santiago, Chile.

RESUMEN / SUMMARY: - Background: Social cognition (SC) involves mental processes underlying interactions. Children and adolescents with Down syndrome face sociocognitive challenges affecting relationships and well-being. This review systematically examines research on SC development in persons with Down syndrome. Method: Following PRISMA-ScR guidelines, we systematically searched WoS and Scopus for peer-reviewed studies on SC in individuals with Down syndrome (0-19 years). Forty studies (2008-2024) met the criteria and were analysed and assessed for quality using the MMAT tool. Results: Evidence does not clearly indicate age-related SC development in Down syndrome. Instead, language is the key factor influencing SC development. Individuals with Down syndrome show challenges in SC and emotion processing, specifically compared to typical development. Conclusion: More research is needed, especially longitudinal and developmental trajectory studies, to clarify SC development in Down syndrome and its relation to age. These findings can guide educational and clinical strategies to improve social inclusion and well-being.

TÍTULO / TITLE: - Telehealth and healthcare access for individuals with Down syndrome: a systematic review of opportunities and barriers

REVISTA / JOURNAL: - BMC Health Serv Res. 2026 May 6. doi: 10.1186/s12913-026-14374-9. Online ahead of print. Free arti

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AUTORES / AUTHORS: - Armita Pak et al.

INSTITUCIÓN / INSTITUTION: - Students Scientific Research Center (SSRC), Tehran University of Medical Sciences, Tehran, Iran.

RESUMEN / SUMMARY: - Background: People with Down syndrome (DS) face significant barriers in accessing healthcare. Telehealth, defined as the delivery of healthcare services through direct clinical interaction using telecommunications technologies such as videoconferencing, telephone, or remote monitoring, has emerged as a potential strategy to improve accessibility and quality of care. This systematic review synthesizes evidence on the impact of telehealth interventions on healthcare access for individuals with DS. Methods: We conducted a systematic review of studies evaluating telehealth interventions for people with DS. Four databases (PubMed, Scopus, Web of Science Core Collection, and Google Scholar) were searched from inception to May 31, 2025. Eligible studies included interventions involving direct remote clinical care (e.g., videoconferencing, telephone, telemonitoring). Screening and data extraction were performed independently by two reviewers, with disagreements resolved by a third reviewer. Results: Of 332 records screened after duplicate removal, 53 full-text articles were reviewed and 39 were included. Interventions ranged from teleconsultations to remote monitoring and mobile applications. Findings suggested potential improvements in healthcare access, clinical outcomes, and satisfaction. However, most studies were small in sample size, varied in design, and more than half had a moderate risk of bias. Conclusions: Telehealth shows promise in improving access to healthcare for people with DS, but current evidence is limited by methodological weaknesses and heterogeneity. Future research should focus on larger, high-quality studies to clarify long-term impacts and inform implementation strategies.

TÍTULO / TITLE: - Caregiver Concerns for Children and Adolescents With Down Syndrome: A Cross-Sectional Study in Brazil

REVISTA / JOURNAL: - Child Care Health Dev. 2026 May;52(3):e70283. doi: 10.1111/cch.70283. Free PMC article.

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AUTORES / AUTHORS: - Beatriz Helena Brugnaro et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Child Development Analysis Laboratory (LADI), Federal University of Sao Carlos (UFSCar), Sao Carlos, Sao Paulo, Brazil.

RESUMEN / SUMMARY: - Aim: The aim of this study is to describe and compare areas of concern for caregivers of children and adolescents with Down syndrome across ages and explore how these areas impact their ability to participate in daily activities. Methods: One hundred and seventeen caregivers of children and adolescents with Down syndrome, aged 0-18, participated and completed the About My Child questionnaire. Descriptive analyses of data from the caregivers were carried out. Individual item scores and the mean scores, standard deviations, median and confidence interval of the total Concern and Impact scores were calculated. Item analyses were carried out across age groups (Kruskal-Wallis test) and between children and adolescent groups (Mann-Whitney Test), aiming to explore concerns and impacts at different ages. Results: The lowest mean concern score for an age group was 9.27, and the highest was 12.67, with possible scores from 0 to 19. The lowest mean impact score for an age group was 2.80, and the highest was 3.25, with possible scores from 0 to 4. The items with the highest frequency of concern for most age groups were communication, participation in school and community and behaviour. The biggest impacts on participation were reported for the items concerning the use of arms and hands, sleep and hearing. No differences were found across age groups. Interpretation: This study found that caregivers of children and adolescents with Down syndrome have concerns about their child that, in total, do not change throughout life.

Respiratory - Respiratorio

TÍTULO / TITLE: - Hypoglossal Nerve Stimulation Therapy for Pediatric Obstructive Sleep Apnea: A Meta-Analysis

REVISTA / JOURNAL: - Biomedicines. 2026 Mar 28;14(4):770. doi: 10.3390/biomedicines14040770. Free PMC article.

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AUTORES / AUTHORS: - Ji Ho Choi et al

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology-Head and Neck Surgery, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea.

RESUMEN / SUMMARY: - Background/Objectives: This study evaluates the efficacy of hypoglossal nerve stimulation as an alternative intervention for pediatric patients with obstructive sleep apnea (OSA) unresponsive to standard therapies and examines the uniformity of therapeutic outcomes across different patient cohorts. Methods: An extensive systematic search was performed across four principal databases (PubMed, EMBASE, Cochrane Library, and Web of Science) utilizing keywords associated with pediatric OSA and hypoglossal nerve stimulation, encompassing studies up to July 2025 that provided objective polysomnographic metrics (e.g., apnea-hypopnea index [AHI] values) to enable the quantitative assessment of pre- and post-intervention effects in children. The primary outcome measured was the ratio of means (ROM), determined from pre-post data in single-group studies, with summary estimates obtained using the fixed-effects model. Results: The systematic review included nine eligible studies with a total of 140 pediatric subjects, the majority of whom were adolescents with Down syndrome. AHI meta-analysis outcomes indicated a marked improvement in OSA severity, yielding an overall ROM of 0.57 [95% confidence interval: 0.49-0.65]. The therapeutic benefit demonstrated a high degree of uniformity across cohorts, as indicated by minimal statistical heterogeneity (I2 = 16%, p = 0.30). Funnel plot assessment showed no statistically significant evidence of systematic publication bias. Conclusions: Current evidence suggests that hypoglossal nerve stimulation therapy is a safe, effective, and valuable alternative for pediatric OSA patients who do not respond to conventional therapies.

TÍTULO / TITLE: - Epithelial Barrier Dysfunction in Down Syndrome: A Gateway to Chronic Lung Injury?

REVISTA / JOURNAL: - Cell Biochem Biophys. 2026 Apr 6. doi: 10.1007/s12013-026-02060-w. Online ahead of print.

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AUTORES / AUTHORS: - Ameera Shahzad et al.

INSTITUCIÓN / INSTITUTION: - Division of Allergy and Immunology, Department of Internal Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.

RESUMEN / SUMMARY: -

TÍTULO / TITLE: - Management of Severe Respiratory Failure after Acute Empyema Surgery in a Patient with Down Syndrome: A Case Report

REVISTA / JOURNAL: - Surg Case Rep. 2026;12(1):25-0667. doi: 10.70352/scrj.cr.25-0667. Epub 2026 Apr 1. Free PMC article

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AUTORES / AUTHORS: - Chisaki Ichinohe et al.

INSTITUCIÓN / INSTITUTION: - Department of Thoracic and Cardiovascular Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.

RESUMEN / SUMMARY: - Introduction: Empyema associated with parapneumonic pleural effusion can cause respiratory failure requiring surgical intervention. However, some cases remain difficult to manage even after surgery. Patients with Down syndrome are particularly susceptible to respiratory infections and tend to develop more severe symptoms. Few studies have addressed the management of postoperative respiratory failure in acute empyema. Case presentation: A 12-year-old girl with Down syndrome developed acute empyema following right-sided parapneumonic pleural effusion and underwent thoracoscopic empyema cavity debridement. Surgical intervention alone was not sufficient to resolve postoperative respiratory failure. She was managed with adjunctive therapies including inhaled nitric oxide (iNO), intrapulmonary percussive ventilation (IPV), and prone positioning therapy. These therapies resulted in marked improvements in postoperative atelectasis and respiratory failure, enabling successful weaning from mechanical ventilation. Conclusions: The combined use of iNO, IPV, and prone positioning therapy may be an effective management strategy for severe respiratory failure after acute empyema surgery in patients with Down syndrome. These adjunctive therapies could contribute to recovery of respiratory function in patients with postoperative atelectasis. Keywords: Down syndrome; acute empyema; atelectasis; inhaled nitric oxide; intrapulmonary percussive ventilation; prone positioning therapy; respiratory failure.

TÍTULO / TITLE: - Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome

REVISTA / JOURNAL: - Curr Opin Pulm Med. 2026 May 26. doi: 10.1097/MCP.0000000000001287. Online ahead of print.

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AUTORES / AUTHORS: - Kevin Guy, Amal Isaiah

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine.

RESUMEN / SUMMARY: - : Purpose of review: Down syndrome (DS) is the most common nonlethal chromosomal aneuploidy, affecting 1 in 700 live births. Pulmonary hypertension (PH) occurs in approximately 25% of children with DS and contributes to a 10% mortality rate within 3 years of diagnosis. Despite obstructive sleep apnea (OSA) affecting up to 80% of children with DS, the specific contribution of upper airway obstruction to PH in this population remains poorly characterized. This review synthesizes current evidence to address that gap. Recent findings: Children with DS develop multilevel upper airway obstruction due to craniofacial dysmorphology, relative macroglossia, hypotonia, and reduced peripheral chemosensitivity. OSA-driven chronic hypoxemia promotes pulmonary vascular remodeling, with 87% of recurrent PH cases classified as WHO Group III. Echocardiographic diagnosis is limited by chronic lung disease. NT-proBNP is the most reliable biomarker in DS. Adenotonsillectomy reduces apnea severity, though evidence of a reduction in mean pulmonary arterial pressure in DS is lacking. Endothelin receptor antagonists show functional benefit, while sildenafil appears less effective in DS-specific analyses. Summary: No DS-specific PH staging system exists, representing a critical gap. Future research should quantify the impact of airway interventions on pulmonary hemodynamics, develop DS-tailored biomarkers, and optimize pharmacologic regimens in this molecularly distinct population.

Surgery - Cirugía

TÍTULO / TITLE: - Do Congenital Heart Diseases or Chromosomal Anomalies Influence the Surgical Outcomes of Esophagocoloplasty in Esophageal Atresia Patients?

REVISTA / JOURNAL: - J Pediatr Surg. 2026 May 12:163202. doi: 10.1016/j.jpedsurg.2026.163202. Online ahead of print.

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AUTORES / AUTHORS: - Ana Cristina Aoun Tannuri et al.

INSTITUCIÓN / INSTITUTION: - Pediatric Surgery and Liver Transplantation Division, University of Sao Paulo Medical School, Sao Paulo, Brazil.

RESUMEN / SUMMARY: - Background: Esophageal atresia (EA) is frequently associated with congenital heart disease (CHD) and chromosomal anomalies, mainly Down syndrome (DS). While these conditions affect outcomes following primary repair, their specific impact on esophageal substitution procedure remains poorly defined. This study aimed to evaluate the influence of CHD and chromosomal anomalies on surgical outcomes following esophagocoloplasty for failed repair of EA patients. Methods: Retrospective study including patients who underwent esophagocoloplasty between January 2015 and January 2025 at a single center divided into 4 groups: HD (CHD and DS), D (isolated DS), H (isolated CHD) and C (isolated EA). Demographic, clinical and surgical data, postoperative complications, length of stay, and mortality were analyzed. Results: 105 patients were included (mean age 31.2 months; 57.1% male). VACTERL-associated anomalies were present in 53.3% of patients, with CHD being the most frequent (33.3%). DS was identified in 7.6% of the cohort. Postoperative complications occurred in 40% of cases, (87.9% minor complications). Multivariate analysis demonstrated that CHD was independently associated with impaired postoperative weight gain (OR = 3.62; p = 0.008). DS was not associated with major complications or mortality, although a trend toward an increased risk of sepsis was observed. Overall mortality was 0.95% (one case). No significant differences in the incidence of major complications among the study groups were observed. Conclusions: CHD negatively affected postoperative nutritional recovery but did not increase major morbidity or mortality in esophagocoloplasty patients. Chromosomal anomalies did not compromise overall surgical safety, supporting the feasibility of esophagocoloplasty in this complex patient population.

TÍTULO / TITLE: - Predicted vs. Actual Endotracheal Tube Size in Pediatric Cardiac Surgery for Children with Down Syndrome

REVISTA / JOURNAL: - Ann Card Anaesth. 2026 Apr 1;29(2):219-227. doi: 10.4103/aca.aca_280_25. Epub 2026 Apr 15. Free PM

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AUTORES / AUTHORS: - Madan M Maddali et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiac Anesthesia, Oman Medical Specialty Board, Department of Cardiac Anesthesia, National Heart Center, Royal Hospital, Muscat, Oman.

RESUMEN / SUMMARY: - Background: Children with Down syndrome have a higher risk of upper airway obstruction and smaller tracheal lumens due to conditions like subglottic stenosis and laryngomalacia. While the Cole formula is widely used to predict endotracheal tube (ETT) size in non-syndromic children, this formula may be inappropriate for children with Down syndrome undergoing cardiac surgery. Objectives: The primary objective was to determine whether the actual endotracheal tube size used in children with Down syndrome undergoing cardiac surgery matches the size predicted by the Cole formula. The secondary objectives included age-stratified comparisons (<1 year vs. ≥1 year) of predicted versus actual endotracheal tube size used, along with the impact of airway characteristics, drug usage, and postoperative outcomes on the actual endotracheal tube used. Settings and design: A retrospective cohort study at a single tertiary pediatric cardiac center. Measurements and main results: A total of 182 pediatric patients with Down syndrome who had cardiac surgery were enrolled. Data were collected from patients with Down syndrome who had cardiac surgery with tracheal intubation using uncuffed ETTs. Patients were divided into two groups: those under one year of age and those one year or older. Results: The actual ETT size used was statistically different from the size predicted by the Cole formula across all patients (P < 0.001). The difference between the actual and predicted ETT sizes remained significant in both age groups and did not decrease with age [both groups: P <0.001]. For the entire cohort, the actual ETT size was smaller than predicted by the standard Cole formula, with a correlation coefficient of 0.797. Infants with Down syndrome under one year of age were more likely to be on anti-failure medications (64.2% vs. 43.9%, P = 0.011) and have more complex cardiac anomalies (RACHS-1 score) compared to older children. These conditions had not impact on the endotracheal tube size

Therapeutics - Terapéutica

TÍTULO / TITLE: - Nitrogen-Doped Graphene Quantum Dots Conjugated to Leucettinib-21 Rescue Differentiating Zebrafish Purkinje Cells by Inhibiting Dyrk1A Kinase

REVISTA / JOURNAL: - ACS Appl Nano Mater. 2026 Apr 20;9(18):8023-8038. doi: 10.1021/acsanm.6c00239.Free PMC article.

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AUTORES / AUTHORS: - Luiza Araujo Gusmao et al.

INSTITUCIÓN / INSTITUTION: - Division of Cellular and Molecular Neurobiology, Zoological Institute, Technische Universitat Braunschweig, Spielmannstraße 7, Braunschweig 38106, Germany.

RESUMEN / SUMMARY: - A major challenge in treating neurological diseases is the transport of compounds across the blood-brain barrier. Herein, we report the synthesis and characterization of nitrogen-doped graphene quantum dots (GQDs) that exhibit high tolerance in zebrafish larvae at high concentrations. In contrast to classical semiconductor quantum dots, vascular microinjection of these fluorescent carbon-based nanomaterials results in rapid tissue distribution and efficient neuronal internalization within the brain, highlighting their potential as nanocarriers for central nervous system delivery. Vascular microinjections of these quantum dots conjugated with the high-affinity Dyrk1A kinase inhibitor Leucettinib-21 (LCTB21) at nanomolar concentrations rescued cell-autonomous dendrite deficiencies in cerebellar Purkinje cells overexpressing human Dyrk1a. LCTB21 concentrations were significantly lower than those of the inhibitor alone. Dyrk1A activity is responsible for neurological defects in Down syndrome and acts as a priming kinase for Alzheimers disease-associated proteins Tau and APP. Thus, efficient nanodelivery of Dyrk1A inhibitors across the blood-brain barrier improves therapeutic options while minimizing the treatment dose and potential side effects.

TÍTULO / TITLE: - Mapping the Brain Interaction Network of the Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) Targeted by Leucettinib-21 Using Affinity Chromatography

REVISTA / JOURNAL: - ACS Pharmacol Transl Sci. 2026 Apr 15;9(5):1204-1227. doi: 10.1021/acsptsci.6c00066. Free PMC artic

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AUTORES / AUTHORS: - Emmanuel Deau et al.

INSTITUCIÓN / INSTITUTION: - Perha Pharmaceuticals, Perharidy Research Centre, 29680 Roscoff, Bretagne, France

RESUMEN / SUMMARY: - Leucettinibs are substituted 2-aminoimidazolin-4-ones inspired by the marine sponge natural product Leucettamine B and developed as pharmacological inhibitors of DYRK1A (dual-specificity, tyrosine phosphorylation-regulated kinase 1A), a therapeutic target for indications such as Down syndrome, Alzheimers disease, Parkinsons disease, diabetes, myocardial infarction, etc. Leucettinib-21 is currently being tested in a phase 1 clinical trial. In this study, four different affinity chromatography-based approaches were developed to identify the rat brain targets of Leucettinib-21: (1) Leucettinib-21 (and its kinase-inactive isomer as control) immobilized on agarose beads, (2) immobilized metal affinity chromatography, (3) KinAffinity bead competition assays, and (4) immunoprecipitation with DYRK1A-specific antibodies. Altogether, these complementary methods (1) confirm known targets of Leucettinib-21, and identify (2) new protein kinases and nonkinases interacting with Leucettinib-21, (3) potential new partners of DYRK1A, and (4) pathways and cellular mechanisms potentially modulated by Leucettinib-21. These methods can be expanded to various cells and tissues from models of pathologies where Leucettinib-21 demonstrates efficacy.

TÍTULO / TITLE: - Bumetanide as a potential treatment for neurodegenerative and neurodevelopmental disorders: A systematic review

REVISTA / JOURNAL: - Biomed Pharmacother. 2026 May 20:200:119533. doi: 10.1016/j.biopha.2026.119533. Online ahead of pri

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AUTORES / AUTHORS: - Oran McNamara et al.

INSTITUCIÓN / INSTITUTION: - Pharmacology and Therapeutics, School of Pharmacy and Medical Sciences, Institute for Health Discovery and Innovation, Institute for Clinical Trials, Galway Neuroscience Centre, University of Galway, Ireland.

RESUMEN / SUMMARY: - Neurological disorders represent a major global health burden, affecting an estimated 3.4 billion individuals worldwide. Bumetanide, a clinically approved loop-diuretic and antagonist of the Na+ -K+-Cl- cotransporter NKCC1, has recently emerged as a candidate for repurposing in the treatment of neurological disorders. Disrupted excitation-inhibition balance, driven in part by depolarizing GABAA receptor signaling resulting from altered chloride homeostasis, has been implicated across multiple neurodegenerative and neurodevelopmental conditions. This systematic literature review evaluated preclinical and clinical evidence for the efficacy of bumetanide across a range of neurological disorders, including Alzheimers, Parkinsons, and Huntingtons disease, autism spectrum disorder, schizophrenia, tuberous sclerosis, fragile X syndrome, Down syndrome, and Angelman syndrome. Across in vivo and ex vivo models, bumetanide frequently restored hyperpolarizing GABAergic activity and attenuated behavioral and cognitive abnormalities, although translational relevance is constrained by limited central nervous system penetration following systemic administration. Clinical evidence mainly comes from autism spectrum disorder, where some studies have reported modest improvements in behavioral outcomes and measurable neurophysiological changes, although findings remain inconsistent. Collectively, these findings suggest that NKCC1 inhibition represents a mechanistically relevant but clinically unproven therapeutic strategy. Further research is required to clarify the cellular mechanisms underlying bumetanide responsiveness, optimize delivery to the central nervous system, and identify biomarkers to stratify patients most likely to respond to treatment.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE: - Urodynamic patterns in pediatric patients with cognitive developmental disorders: A retrospective descriptive study

REVISTA / JOURNAL: - J Pediatr Urol. 2026 Apr 17;22(4):105966. doi: 10.1016/j.jpurol.2026.105966. Online ahead of print.

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AUTORES / AUTHORS: - Sebastian Tobia-Gonzalez et al.

INSTITUCIÓN / INSTITUTION: - Urology Unit, Driscoll Childrens Hospital, USA.

RESUMEN / SUMMARY: - Purpose: Cognitive developmental disorders (CDD) including intellectual disability (ID), cerebral palsy (CP), Downs syndrome (DS), and autism spectrum disorder (ASD) are often associated with lower urinary tract dysfunction. This study aimed to characterize urodynamic (UD) patterns in pediatric patients with CDD and analyze their relationship with clinical variables and treatment outcomes. Materials and methods: A retrospective observational study was conducted including 79 pediatric patients (ages 4-17) with confirmed CDD who underwent comprehensive video urodynamic evaluations between 2009 and 2024 at a tertiary pediatric center. Data analyzed included age, sex, diagnosis, urodynamic parameters (detrusor overactivity, bladder compliance, detrusor-sphincter dyssynergia, bladder sensation), vesicoureteral reflux (VUR), and treatment modalities. Statistical associations between CDD type and UD parameters were examined using chi-square tests (p < 0.05). Results: The mean age was 9.2 years, with male predominance (70.9%). Diagnoses included CP (38.0%), ID (32.9%), ASD (24.1%), and DS (5.1%). Dysfunctional voiding was the most frequent diagnosis (32.9%), particularly in CP (43.3%) and ASD (36.8%). Detrusor overactivity was common in ID (57.7%) and CP (40.0%) but rare in ASD (5.3%). Detrusor-sphincter dyssynergia was seen in 56.7% of CP and 26.9% of ID patients and absent in ASD. Decreased bladder compliance (<20 ml/cmH2O) occurred in 90.0% of ID and 57.7% of CP patients but was preserved in ASD. Absent urgency sensation was found in 50.0% of CP and 19.2% of ID patients. VUR was present in 10.5% of ASD and 6.7% of CP patients. Clinical management was most frequent in ID (96.2%) and ASD (94.7%) patients. Clean intermittent catheterization was required in 43.3% of CP and 12.5% of ID cases. Surgical intervention was necessary in 12.7% of patients, mainly in CP (20.0%). Conclusions: Distinct urodynamic patterns were observed across cognitive developmental disorders. CP pa

Education - Educación

TÍTULO / TITLE: - Near-fatal Food Aspiration in a Young Child With Down Syndrome

REVISTA / JOURNAL: - J Dev Behav Pediatr. 2026 May 13. doi: 10.1097/DBP.0000000000001490. Online ahead of print.

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AUTORES / AUTHORS: - Masazumi Miyahara, Kyoko Osaki

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Okanami General Hospital, Iga, Japan.

RESUMEN / SUMMARY: - Objective: To highlight the multifactorial risks of food aspiration in children with Down syndrome (DS), including anatomical, functional, and behavioral vulnerabilities, through a case of near-fatal choking. Method: We describe a case involving a 4-year-old boy with DS who presented with near-asphyxiation after aspirating a large piece of fried chicken. The patients medical history, clinical findings, imaging results, and treatment course were reviewed. Results: The patient exhibited delayed language development, absent protective airway reflexes, impulsive eating behavior, and possible streptococcal tonsillitis. A large food bolus was visualized in the upper airway but could not be removed because of agitation. Spontaneous coughing expelled the object, and the patient recovered fully after a course of antibiotics. Imaging confirmed the obstruction, and group A Streptococcus was detected on a throat swab. Conclusion: This case underscores the need for proactive feeding and swallowing assessments, especially during transitions to self-feeding in children with DS. Individualized preventive strategies, including caregiver education and early behavioral assessment, are critical to reducing aspiration-related morbidity in this vulnerable population.

TÍTULO / TITLE: - Home-Based Occupational Therapy Early Intervention Programs in Children with Down Syndrome: A Randomized Clinical Trial

REVISTA / JOURNAL: - Phys Occup Ther Pediatr. 2026 May 14:1-15. doi: 10.1080/01942638.2026.2667359. Online ahead of prin

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AUTORES / AUTHORS: - K G Argueta Dheming et al.

INSTITUCIÓN / INSTITUTION: - Department of Occupational Therapy, School of Physical Education, Physiotherapy and Occupational Therapy, Federal University of Minas Gerais (UFMG), Belo Horizonte, MG.

RESUMEN / SUMMARY: - : Aims: To investigate the effectiveness of combining home-based programs with early intervention (EI) as an occupational therapy strategy for children with Down Syndrome. Methods: A six-month longitudinal pilot study was conducted with 30 children with DS aged 0-3 years, recruited from an early intervention institute in Belo Horizonte, Brazil. Participants were allocated to a control group (EI only) or an experimental group (EI plus home-based programs grounded in Family-Centered Practice (FCP)). Outcomes were assessed at baseline and post-intervention using the Canadian Occupational Performance Measure (COPM), the Pediatric Evaluation of Disability Inventory (PEDI), and the Affordances in the Home Environment for Motor Development (AHEMD). Results: Both groups demonstrated statistically significant improvements from pre- to post-intervention (p < 0.001). However, the experimental group showed moderate effect sizes (Hedges g) in occupational performance (0.61), satisfaction (0.50), and self-care (0.56), while the remaining outcomes presented small effects. No significant between-group differences were observed in environmental affordances. Conclusion: The integration of home-based programs grounded in FCP into early intervention was associated with greater improvements in occupational performance, caregiver satisfaction, and self-care skills in young children with Down Syndrome. These findings support home-based programs as a feasible and effective complementary occupational therapy approach within early intervention services.

TÍTULO / TITLE: - Concurrent and longitudinal associations between the Home Literacy Environment and the language skills of children with Down syndrome

REVISTA / JOURNAL: - Front Psychol. 2026 Apr 28:17:1795715. doi: 10.3389/fpsyg.2026.1795715. Free PMC article.

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AUTORES / AUTHORS: - Amelia Hickman et al.

INSTITUCIÓN / INSTITUTION: - Department of Educational Psychology, Manchester Institute of Education, University of Manchester, Manchester, United Kingdom.

RESUMEN / SUMMARY: - Introduction: Substantial research demonstrates a positive association between the Home Literacy Environment (HLE) and vocabulary growth in typically developing (TD) children (Lovčević, 2025). Though few studies have explored this in children with Down syndrome (DS), limited evidence suggests that an enriched HLE also promotes receptive vocabulary growth in this population (Dulin et al., 2023). However, the extent to which the HLE influences expressive vocabulary development within this population remains unclear (Dulin et al., 2023). Research questions: (1) How do parent(s) of children with DS describe their HLEs, in terms of richness and (2) child engagement during shared book reading (SBR) interactions? Do these measures of the HLE (richness and child engagement) correlate with child language scores (3) concurrently and (4) longitudinally? Method: Participants were parents and children with Down syndrome (DS) aged 2 years 11 months - 6 years 10 months at the start of the study. Parent(s) completed a Home Learning Environment Questionnaire (Dulin et al., 2023) which characterised (a) HLE richness and (b) child engagement in SBR. Language skills were measured using a parent-completed vocabulary checklist and a standardised measure of expressive vocabulary at two time points approximately 9 months apart. Results/discussion: Descriptive statistics revealed variability in the richness of HLEs (M = 32.76, SD = 6.83, range = 16-44) and child engagement during SBR (M = 18.86, SD = 6.00, range = 5-32). Parents of children with Down syndrome reported rich and variable home literacy environments, and frequent shared book reading in which there were generally high levels of child engagement, with children reported to regularly request books, turn pages, and point to pictures or words. Child engagement during SBR was the strongest predictor of concurrent expressive vocabulary, suggesting immediate vocabulary growth is linked with child engagement. Although HLE ri

TÍTULO / TITLE: - Test-retest reliability of the Test of Gross Motor Development-3 instrument for children with Down syndrome

REVISTA / JOURNAL: - Afr J Disabil. 2026 Apr 22:15:1925. doi: 10.4102/ajod.v15i0.1925. eCollection 2026.Free PMC article

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AUTORES / AUTHORS: - Seyide Abiodun-Salawu, Pieter H Boer

INSTITUCIÓN / INSTITUTION: - Department of Physical Activity, Sport and Recreation, Faculty of Health Sciences, North-West University, Potchefstroom, South Africa

RESUMEN / SUMMARY: - Background: The Test of Gross Motor Development-3 (TGMD-3 2019) evaluates fundamental gross motor skills across two domains: locomotor and ball skills. Objectives: The purpose of this study was to determine the test-retest reliability of the TGMD-3 in children with Down syndrome. Method: Twenty-four children with Down syndrome, aged 9-15 years, from five special needs schools in the North West province of South Africa participated in this study. Results: Excellent and good intraclass correlation coefficient values were reported for locomotor (0.91), ball (0.84) and overall gross motor performance (0.91). Standard error of measurement, minimal detectable change at the 95% and Bland-Altman plots showed acceptable precision levels, low variability, a small discrepancy between scores for the two assessments and no systematic bias in the analyses. The test and retest values for locomotor (p = 0.587), ball (p = 0.403) and overall gross motor scores (p = 0.321) were not significant. Conclusion: The TGMD-3 instrument showed good to excellent test-retest reliability for assessing gross motor skills in children with Down syndrome.

TÍTULO / TITLE: - Is the community participation and environment of children with Down syndrome different from their typically developing peers? A cross-sectional study

REVISTA / JOURNAL: - Dev Neurorehabil. 2026 May 3:1-10. doi: 10.1080/17518423.2026.2665090. Online ahead of print.

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AUTORES / AUTHORS: - Seren Uc Boynuegri, Duygu Turker

INSTITUCIÓN / INSTITUTION: - Gulhane Institute of Health Science, University of Health Sciences, Ankara, Turkey.

RESUMEN / SUMMARY: - Aim: The aim of this study was to examine the community participation levels (frequency and involvement) of children with Down syndrome (DS) and the restrictive and supportive factors affecting their participation levels and compare them with typically developing (TD) children. Methods: This cross-sectional study included parents of 70 children (35 with DS; 35 TD children) aged 8-17 years. Parents of all children completed the community module of the Participation and Environment Measure for Children and Youth, which is used to assess participation and environmental factors in the community. Results: Children with DS participated less frequently (organizations, groups, clubs, or leadership activities and out-of-school classes and lessons) and less involved (getting together with children, organizations, groups, clubs, or leadership activities and out-of-school classes and lessons) in community activities compared to TD children, and parents of children with DS were less satisfied with their childrens participation in community activities. Children with DS faced more barriers (the physical layout, the sensory quality and weather conditions) and had insufficient resources (information and supplies) compared to their TD peers in the community. After adjusting for the childs age, parental education level and average income, the group (DS vs. TD) had an independent effect on frequency, involvement and desire for change. Conclusions: Children with DS are negatively affected in terms of community participation (both) compared to TD children. Beyond sociodemographic factors, being a child with DS may reduce community participation (both). The community environmental factors were influential for the community participation of children with DS. Community participation of children with DS can be increased through environmental regulations.

TÍTULO / TITLE: - Caregiver Concerns for Children and Adolescents With Down Syndrome: A Cross-Sectional Study in Brazil

REVISTA / JOURNAL: - Child Care Health Dev. 2026 May;52(3):e70283. doi: 10.1111/cch.70283. Free PMC article.

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AUTORES / AUTHORS: - Beatriz Helena Brugnaro et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Child Development Analysis Laboratory (LADI), Federal University of Sao Carlos (UFSCar), Sao Carlos, Sao Paulo, Brazil.

RESUMEN / SUMMARY: - Aim: The aim of this study is to describe and compare areas of concern for caregivers of children and adolescents with Down syndrome across ages and explore how these areas impact their ability to participate in daily activities. Methods: One hundred and seventeen caregivers of children and adolescents with Down syndrome, aged 0-18, participated and completed the About My Child questionnaire. Descriptive analyses of data from the caregivers were carried out. Individual item scores and the mean scores, standard deviations, median and confidence interval of the total Concern and Impact scores were calculated. Item analyses were carried out across age groups (Kruskal-Wallis test) and between children and adolescent groups (Mann-Whitney Test), aiming to explore concerns and impacts at different ages. Results: The lowest mean concern score for an age group was 9.27, and the highest was 12.67, with possible scores from 0 to 19. The lowest mean impact score for an age group was 2.80, and the highest was 3.25, with possible scores from 0 to 4. The items with the highest frequency of concern for most age groups were communication, participation in school and community and behaviour. The biggest impacts on participation were reported for the items concerning the use of arms and hands, sleep and hearing. No differences were found across age groups. Interpretation: This study found that caregivers of children and adolescents with Down syndrome have concerns about their child that, in total, do not change throughout life.

TÍTULO / TITLE: - Questions Matter: Investigating the Role of Caregiver Interactions in Children With Down Syndrome

REVISTA / JOURNAL: - Am J Speech Lang Pathol. 2026 May 5;35(3):1227-1241. doi: 10.1044/2026_AJSLP-25-00254. Free PMC art

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AUTORES / AUTHORS: - Tiffany Chavers Edgar et al

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

RESUMEN / SUMMARY: - Purpose: Past research on interactions between parents and their children with Down syndrome (DS) has focused on mothers as the communication partner, despite fathers also frequently interacting with their children. This exploratory study examined mother and father question-asking behaviors during dyadic interactions with their children with DS and included preliminary observations of childrens responsiveness to capture the bidirectional nature of interaction. Method: Participants included 15 children with DS (Mage = 39.67 months) and their biological parents. Each participant was administered the Mullen Scales of Early Learning. Ten-minute interactions for mother-child and father-child dyads were video-recorded during free-play in their home. Analyses examined the differences in the rate and type of questions between mothers and fathers and whether question asking was associated with childrens nonverbal developmental quotient (NVDQ), language ability, chronological age, or rate of response. Results: Mothers asked significantly more questions than fathers, including more open-ended, closed-ended, and rhetorical questions, as well as specific subtypes of closed-ended questions. Within individual family units, mothers asked more questions than fathers in 10 of the 15 families studied. Exploratory observations of child responses suggested that responsiveness varied across dyads. Parental questioning behaviors were associated with childrens NVDQs and chronological age, but not language ability. Conclusion: Results underscore the importance of including both parents in language interventions for children with DS and suggest that parents naturally adjust their questioning strategies based on childrens NVDQs and chronological age rather than language skills. Supplemental material: https://doi.org/10.23641/asha.31842937.

TÍTULO / TITLE: - Speech-language-hearing interventions in orofacial functions in individuals with Down syndrome: a scoping review

REVISTA / JOURNAL: - Codas. 2026 Mar 27;38(2):e20240337. doi: 10.1590/2317-1782/e20240337pt.Free PMC article.

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AUTORES / AUTHORS: - Paula Rayana Batista Correia et al.

INSTITUCIÓN / INSTITUTION: - Programa Associado de Pos-graduaçao em Fonoaudiologia, Universidade Federal da Paraiba - UFPB - Joao Pessoa (PB), Brasil.

RESUMEN / SUMMARY: - Purpose: To map the syntheses of evidence in the literature on speech-language-hearing interventions in orofacial functions and their effects on people with trisomy 21 (T21). Research strategies: A search was conducted in EMBASE, LILACS, PubMed/Medline, Scopus, Web of Science, Cochrane, and ASHA databases, also consulting grey literature. Selection criteria: The review included studies with people with T21, addressing therapies related to orofacial functions, and excluded those with other populations, studies whose intervention of interest was characterized as non-speech-language-hearing therapy or were not aimed at orofacial functions, and descriptive studies. Data analysis: Data were synthesized and described narratively, illustrated with a table and a flowchart. Results: The review included 10 studies, which involved all functions, with swallowing being the most recurrent. They were published between 2009 and 2024 and originated from various countries. Participants were of both sexes, aged 2 to 25 years. Parameters such as the number and frequency of sessions and the duration of treatment varied. The types of exercises and interventions and the evaluation methods were individualized for each study. Five studies were clinical trials and performed quantitative evaluations to verify the effectiveness of the interventions. Conclusion: The literature showed that speech-language-hearing intervention in orofacial functions in individuals with Down syndrome promotes gains and modifications in structural and functional aspects.

TÍTULO / TITLE: - From classroom to the counter: exploring knowledge, attitudes, and practices toward Down syndrome among pharmacy students and pharmacists

REVISTA / JOURNAL: - BMC Med Educ. 2026 May 27. doi: 10.1186/s12909-026-09513-z. Online ahead of print. Free article

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AUTORES / AUTHORS: - Isra Dmour et al.

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutics and Pharmaceutical Technology, Faculty of Pharmaceutical Sciences, The Hashemite University, Zarqa, Jordan.

RESUMEN / SUMMARY: - Background: The worldwide prevalence of Down syndrome (DS) is increasing. Limited DS-specific information and dosing guidelines can hinder pharmacists ability to effectively respond to DS related inquiries. As accessible healthcare providers, pharmacists are well positioned to identify and address these challenges, yet their role in optimizing DS care remains underexplored. This study aimed at evaluating community pharmacists knowledge, confidence, and practices related to DS pharmacotherapy, and to identify training needs that can improve their role in optimizing medication management for individuals with DS. Methods: A cross-sectional online questionnaire was conducted among community pharmacists and pharmacy students to assess their knowledge, practices and confidence regarding DS pharmacotherapy. The survey included questions on educational background, experience with DS-related inquiries, and training needs. Data was analyzed using descriptive statistics, scoring, and tests for statistical significance. Results: Four hundred and two participants completed the study. The results revealed that a majority had limited familiarity with DS pharmacotherapy. Levels in managing medication needs for DS patients were generally low, particularly for prescription medications. More than 90% of participants support the integration of specialized courses, ongoing education, and pharmacist training within the pharmacy curriculum. Positive attitudes toward integrating DS-related content in the curriculum were reported by 94% of respondents. They also emphasized the active involvement of public authorities, collaboration with community organizations, expansion of clinical research, and greater use of social media to increase DS awareness and improve early healthcare access. Knowledge scores were highest for Clinical Causes, Symptoms and Treatment (12.90 ± 5.84; range - 14 to 14) and lowest for Causes and Prevalence (- 3.61 ± 3.04; range - 14 to 14), with modest scores for Preve

TÍTULO / TITLE: - Comparative language performance in children and adolescents with 22q11.2ds syndrome and down syndrome

REVISTA / JOURNAL: - J Neurodev Disord. 2026 May 26. doi: 10.1186/s11689-026-09701-4. Online ahead of print. Free art

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AUTORES / AUTHORS: - Esther Moraleda-Sep�lveda et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Faculty of Psychology, University Complutense, Campus de Somosaguas, 28223, Pozuelo de Alarcon, Madrid, Spain.

RESUMEN / SUMMARY: - Genetically defined neurodevelopmental syndromes provide a framework for examining constraints on language development. This study compared language performance in children and adolescents with 22q11.2 deletion syndrome (22q11.2DS; n = 40) and Down syndrome (DS; n = 40), matched for age and nonverbal cognitive ability, aged 6-16 years. Standardized assessments included the Clinical Evaluation of Language Fundamentals (CELF-5) and the BLOC-C to evaluate multiple receptive and expressive language domains. Group differences, effect sizes, and associations with age were analyzed to characterize syndrome-specific profiles. Children with 22q11.2DS demonstrated relatively stronger receptive vocabulary and syntax alongside weaker morphosyntactic and pragmatic skills, with vocabulary showing moderate positive associations with age. In contrast, the DS group exhibited generally lower performance across domains, with pronounced difficulties in morphosyntax and limited age-related gains. These findings highlight differences in overall level of performance and relative strengths within a globally impaired profile across syndromes and emphasize the value of multi-dimensional assessment in capturing both age-related patterns and vulnerabilities.

TÍTULO / TITLE: - Balancing in Virtual Reality: Motor Learning and Functional Improvement in Down Syndrome

REVISTA / JOURNAL: - J Intellect Disabil Res. 2026 May 24. doi: 10.1111/jir.70124. Online ahead of print.

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AUTORES / AUTHORS: - Evelyn Ardai et al.

INSTITUCIÓN / INSTITUTION: - ELTE Eotvos Lorand University Barczi Gusztav Faculty of Special Needs Education, Institute of Special Needs Education for People with Atypical Behaviour and Cognition, Budapest, Hungary.

RESUMEN / SUMMARY: - Background: Motor learning in individuals with Down syndrome (DS) may be influenced by syndrome-specific motor and cognitive characteristics. Virtual reality (VR) systems are becoming increasingly popular and offer a valuable opportunity to study motor learning. To date, only a few studies have examined motor learning to improve balance in DS. This study aimed to investigate motor learning and functional motor performance in young adults with DS during VR-based training. Methods: Participants with DS (n = 31) and typical development (TD = 28) between 18 and 30 years of age took part in the study. Participants were randomly allocated into training (DS Wii and TD Wii) and control (DS C and TD C) groups. Training groups participated in a 4-week-long balance training with two Nintendo Wii balance games, whereas their performance was monitored. All participants underwent pre- and posttraining assessment of functional motor performance. Results: During the VR training, the DS Wii and TD Wii groups game scores show significant performance improvements in both games. Learning curves showed great individual differences, especially in DS. Although TD groups outperformed DS groups in the functional motor tests, DS Wii groups pre- and post-training results indicated a significant improvement in functional motor performance. Conclusion: These findings demonstrate that individuals with DS are able to learn in a VR environment and successfully transfer the acquired skills to functional abilities. TD individuals also improved their functional performance or reached a plateau. We conclude that VR is an effective system for engaging DS individuals in motor training for improving balance skills.

TÍTULO / TITLE: - Design and feasibility implementation of an interactive learning room for children with down syndrome to promote inclusive educational access in Indonesia

REVISTA / JOURNAL: - Disabil Rehabil Assist Technol. 2026 May 22:1-17. doi: 10.1080/17483107.2026.2674282. Online ahead

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AUTORES / AUTHORS: - Rinda Hedwig et al.

INSTITUCIÓN / INSTITUTION: - Department of Computer Engineering, Faculty of Engineering, Bina Nusantara University, Jakarta, Indonesia.

RESUMEN / SUMMARY: - Objective: This study aims to design and evaluate the feasibility of an interactive multisensory learning room to support engagement and school readiness among children with Down syndrome (DS) and autism spectrum disorder (ASD) in Indonesia. Methods: A qualitative observational design was employed involving 10 participants aged 3-15 years. The system integrates four interactive components: mimic stimulation, motor coordination, colour recognition, and auditory feedback. Participants engaged in supervised sessions lasting 30-45 minutes. Behavioural responses were assessed using a four-point Likert-type observational scale and supported by semi-structured interviews with parents, caregivers, therapists, and a primary school teacher. Since 2022, the system has been implemented twice weekly with rotating small groups, with additional observations conducted between January 2023 and June 2025. Results: Findings indicate that the motor coordination component significantly increased physical activity and engagement. The music and video components contributed to emotional comfort and improved willingness to participate. Sustained observations suggest consistent engagement patterns over time, supporting the systems usability and adaptability in real-world settings. Conclusion: The study demonstrates the feasibility and sustainability of implementing an affordable multisensory learning environment in under-resourced contexts. The findings provide a foundation for future controlled and outcome-based studies and contribute to broader efforts toward inclusive education aligned with Sustainable Development Goals (SDGs) 4, 9, 10, and 17.

TÍTULO / TITLE: - Educators Book Selection in Shared Book Reading: A Case From an Early Intervention Centre for Children With Down Syndrome

REVISTA / JOURNAL: - J Appl Res Intellect Disabil. 2026 May;39(3):e70241. doi: 10.1111/jar.70241.

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AUTORES / AUTHORS: - Hooi San Phoon et al

INSTITUCIÓN / INSTITUTION: - Universiti Sains Malaysia, Penang, Malaysia

RESUMEN / SUMMARY: - Background: Language development in individuals with Down syndrome (DS) is often delayed, requiring targeted interventions. Shared Book Reading (SBR), an evidence-based approach, supports language and pre-literacy skills through interactive reading. For children with DS, selecting suitable books is vital due to their unique intellectual and linguistic profiles. Method: This study examined books used by educators during SBR with young children with DS and factors influencing selection. Using a mixed-methods design, data from 13 educators at a Malaysian early intervention centre were gathered through a survey and an open-ended question. Results: Results showed a strong preference for picture storybooks, followed by sensory and wordless books among educators. Seven factors guided choices: simple language; clear visuals; developmental level; interest and engagement; format and interactivity; rhythmic and repetitive language; and conceptual simplicity. Conclusion: Findings inform educators, curriculum designers, and policymakers, supporting guidelines for developmentally appropriate, inclusive reading materials to enhance language and literacy outcomes. Keywords: Down syndrome; book selection; early intervention centre; intellectual disabilities; shared book reading.

TÍTULO / TITLE: - The relationship between language and executive functions in adolescents with Down syndrome and fragile X syndrome

REVISTA / JOURNAL: - J Neurodev Disord. 2026 May 20. doi: 10.1186/s11689-026-09697-x. Online ahead of print. Free articl

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AUTORES / AUTHORS: - Audra Sterling et al.

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, Waisman Center, 1500 Highland Ave, Madison, WI, 53705, USA.

RESUMEN / SUMMARY: - Background: Individuals with fragile X syndrome (FXS) and Down syndrome (DS) have significant and pervasive challenges in language (and more specifically grammar) and executive functions (EFs). While these aspects of development are linked in autism and developmental language disorder, there has not been an investigation into this in FXS and DS. Thus, the purpose of this study was: 1) to evaluate the feasibility of experimental tasks for language and EFs, 2) to test if there are differences in language and EFs in DS and FXS, and 3) to test if EFs are related to grammatical abilities in DS and FXS within and between groups. Methods: Participants included 21 boys with FXS and 25 participants with DS (n = 9 females) between 9-17 years of age; groups were matched on chronological age (variance ratio = 1.13; d = 0.04, p = 0.897) and were similar on nonverbal IQ and vocabulary. Participants completed lab-based assessments including standardized assessments of nonverbal IQ and vocabulary, experimental measures of grammar (i.e., grammatical judgment and sentence imitation), three experimental executive function tasks, and a parent report of executive functions. Results: While there were participants who could not complete the tasks, overall the feasibility was high (72-91% participants completed the tasks). Wilcoxon rank-sum tests revealed no significant group differences in experimental grammar or EF tasks. In contrast, large differences emerged on parent-reported EFs, with greater impairment in FXS for shifting and inhibition. We used generalized linear regression models with Gaussian and binomial distributions to examine the relationships between EFs and grammatical abilities. We found that only working memory significantly predicted grammatical judgment. Conclusions: Participants with DS and FXS showed similar grammatical production and comprehension skills, contrasting with prior studies that relied on standardized testing and found more impaired production skills f