CITAS BIBLIOGRÁFICAS
REFERENCES


Enero - Febrero 2024
January - February 2024


Si desea consultar citas de rastreos anteriores, pulse aquí
If you wish to find citations from previous searches, please click

Aging - Envejecimiento

TÍTULO / TITLE: - Chemical, Biochemical, Cellular, and Physiological Characterization of Leucettinib-21, a Down Syndrome and Alzheimer s Disease Drug Candidate

Enlace al Resumen

REVISTA / JOURNAL: - J Med Chem. 2023 Dec 14;66(23):15648-15670. doi: 10.1021/acs.jmedchem.3c01888. Epub 2023 Dec 5.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Mattias F Lindbe et al

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

RESUMEN / SUMMARY: - Leucettinibs are substituted 2-aminoimidazolin-4-ones (inspired by the marine sponge natural product Leucettamine B) developed as pharmacological inhibitors of DYRK1A (dual-specificity, tyrosine phosphorylation-regulated kinase 1A), a therapeutic target for indications such as Down syndrome and Alzheimer s disease. Leucettinib-21 was selected as a drug candidate following extensive structure/activity studies and multiparametric evaluations. We here report its physicochemical properties (X-ray powder diffraction, differential scanning calorimetry, stability, solubility, crystal structure) and drug-like profile. Leucettinib-21 s selectivity (analyzed by radiometric, fluorescence, interaction, thermal shift, residence time assays) reveals DYRK1A as the first target but also some "off-targets" which may contribute to the drug s biological effects. Leucettinib-21 was cocrystallized with CLK1 and modeled in the DYRK1A structure. Leucettinib-21 inhibits DYRK1A in cells (demonstrated by direct catalytic activity and phosphorylation levels of Thr286-cyclin D1 or Thr212-Tau). Leucettinib-21 corrects memory disorders in the Down syndrome mouse model Ts65Dn and is now entering safety/tolerance phase 1 clinical trials.


TÍTULO / TITLE: - Voxel-based dysconnectomic brain morphometry with computed tomography in Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Ann Clin Transl Neurol. 2024 Jan;11(1):143-155. doi: 10.1002/acn3.51940. Epub 2023 Dec 29.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Beatriz Sanchez-Moreno et al

INSTITUCIÓN / INSTITUTION: - Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.

RESUMEN / SUMMARY: - Objective: Alzheimer s disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability. Likewise, acquisition of magnetic resonance imaging to evaluate cerebral atrophy is not straightforward, as prolonged scanning times are less tolerated in this population. Computed tomography (CT) scans can be obtained faster, but poor contrast resolution limits its function for morphometric analysis. We implemented an automated analysis of CT scans to characterize differences across dementia stages in a cross-sectional study of an adult DS cohort. Methods: CT scans of 98 individuals were analyzed using an automatic algorithm. Voxel-based correlations with clinical dementia stages and AD plasma biomarkers (phosphorylated tau-181 and neurofilament light chain) were identified, and their dysconnectomic patterns delineated. Results: Dementia severity was negatively correlated with gray (GM) and white matter (WM) volumes in temporal lobe regions, including parahippocampal gyri. Dysconnectome analysis revealed an association between WM loss and temporal lobe GM volume reduction. AD biomarkers were negatively associated with GM volume in hippocampal and cingulate gyri. Interpretation: Our automated algorithm and novel dysconnectomic analysis of CT scans successfully described brain morphometric differences related to AD in adults with DS, providing a new avenue for neuroimaging analysis in populations for whom magnetic resonance imaging is difficult to obtain.


TÍTULO / TITLE: - Symptoms and age of prodromal Alzheimer s disease in Down syndrome: a systematic review and meta-analysis

Enlace al Resumen

REVISTA / JOURNAL: - Neurol Sci. 2024 Jan 16. doi: 10.1007/s10072-023-07292-9. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Eri Shimizu et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical Genetics, Juntendo University, 2-1-1, Hongo, Bunkyo-Ku, Tokyo, 113-8421, Japan.

RESUMEN / SUMMARY: - The diagnostic criteria for adult-onset Alzheimer s disease (AD) in patients with Down syndrome (DS) have not been standardised. This study investigated the specific symptoms of AD in the prodromal stage of DS, the mean age at diagnosis at each stage of dementia, and the relationship between intellectual disability (ID) and dementia. PubMed, Web of Science, and Embase were searched for studies on DS, AD, early-stage disease, initial symptoms, and prodromal dementia registered between January 2012 and January 2022. We also performed a meta-analysis of the differences between the mean age at prodromal symptoms and AD diagnosis and the proportion of mild cognitive impairment in patients with mild and moderately abnormal ID. We selected 14 articles reporting the behavioural and psychological symptoms of dementia (BPSD) and memory- and language-related impairments as early symptoms of AD in patients with DS. The specific symptoms of BPSD were classified into five categories: irritability (agitation), apathy, abnormal behaviour, adaptive functioning, and sleep disturbance. The mean age at the diagnosis of prodromal symptoms and AD dementia was 52.7 and 56.2 years, respectively (mean difference, + 3.11 years; 95% CI 1.82-4.40) in the meta-analysis. The diagnosis of mild dementia tended to correlate with ID severity (odds ratio [OR], 1.38; 95% CI 0.87-2.18). The features of behaviour-variant frontotemporal dementia may be clinically confirmed in diagnosing early symptoms of DS-associated AD (DSAD). Moreover, age-appropriate cognitive assessment is important. Further studies are required to evaluate DSAD using a combination of biomarkers and ID-related data.


TÍTULO / TITLE: - Down Syndrome Biobank Consortium: A perspective

Enlace al Resumen

REVISTA / JOURNAL: - Alzheimers Dement. 2024 Jan 25. doi: 10.1002/alz.13692. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Iban Aldecoa et al.

INSTITUCIÓN / INSTITUTION: - Pathology Department, Hospital Clinic de Barcelona-University of Barcelona, Barcelona, Spain.

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early-onset Alzheimer s disease (AD)-type dementia by early midlife. Despite ongoing clinical trials to treat late-onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS-related AD (DS-AD), partly due to limited access to well-characterized brain tissue and biomaterials for research. To address this challenge, we created an international consortium of brain banks focused on collecting and disseminating brain tissue from persons with DS throughout their lifespan, named the Down Syndrome Biobank Consortium (DSBC) consisting of 11 biobanking sites located in Europe, India, and the USA. This perspective describes the DSBC harmonized protocols and tissue dissemination goals.


Cardiology - Cardiología

TÍTULO / TITLE: - Safety and Efficacy of Surgical and Percutaneous Cardiac Interventions for Adults With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Mayo Clin Proc Innov Qual Outcomes. 2023 Dec 26;8(1):28-36.doi: 10.1016/j.mayocpiqo.2023.11.002

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Kaitlin Roehl et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, AZ.

RESUMEN / SUMMARY: - Objective: To assess risks and benefits of cardiac intervention in adults with Down syndrome (DS). Patients and methods: A retrospective review was conducted using data from a study we published in 2010. Patients aged 18 years or older with DS who underwent cardiac operation or percutaneous intervention from February 2009 through April 2022 (new cohort) were compared with patients in the previous study (January 1969 through November 2007; remote cohort) at Mayo Clinic. Results: In total, 81 adults (43 men; 38 women) with DS underwent 89 cardiac interventions (84 surgical; 5 percutaneous) at a mean age of 33 years. Twenty-six patients presented with complete atrioventricular canal defect (17%) or tetralogy of Fallot (15%). The most common adult procedures were valve interventions: mitral (31%), tricuspid (15%), and pulmonary (12%). Of pulmonary valve interventions in the new cohort, 33% were performed percutaneously. The postoperative mortality rate was low (1% total). The mean time between last operation and death was 16 years. Conclusion: Adults with DS can undergo cardiac operation and percutaneous intervention with low morbidity and mortality risk and good long-term survival.


TÍTULO / TITLE: - The impact of an additional copy of chromosome 21 in B-cell precursor acute lymphoblastic leukemia

Enlace al Resumen

REVISTA / JOURNAL: - Genes Chromosomes Cancer. 2024 Jan;63(1):e23217. doi: 10.1002/gcc.23217. Epub 2023 Dec 12.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Femke M Hormann et al.

INSTITUCIÓN / INSTITUTION: - Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

RESUMEN / SUMMARY: - A common finding in pediatric B-cell precursor acute lymphoblastic leukemia (BCPALL) is that chromosome 21 is never lost and an extra chromosome 21 is often gained. This implies an important role for chromosome 21 in the pathobiology of BCPALL, emphasized by the increased risk of BCPALL in children with Down syndrome. However, model systems of chromosome 21 gain are lacking. We therefore developed a BCPALL cell line (Nalm-6, DUX4-rearranged) with an additional chromosome 21 by means of microcell-mediated chromosome transfer. FISH, PCR, multiplex ligation-dependent probe amplification, and whole exome sequencing showed that an additional chromosome 21 was successfully transferred to the recipient cells. Transcription of some but not all genes on chromosome 21 was increased, indicating tight transcriptional regulation. Nalm-6 cells with an additional chromosome 21 proliferated slightly slower compared with parental Nalm-6 and sensitivity to induction chemotherapeutics was mildly increased. The extra copy of chromosome 21 did not confer sensitivity to targeted signaling inhibitors. In conclusion, a BCPALL cell line with an additional human chromosome 21 was developed, validated, and subjected to functional studies, which showed a minor but potentially relevant effect in vitro. This cell line offers the possibility to study further the role of chromosome 21 in ALL.


Dental - Dental

TÍTULO / TITLE: - Periodontal disease in down syndrome: Predisposing factors and potential non-surgical therapeutic approaches

Enlace al Resumen

REVISTA / JOURNAL: - J Clin Lab Anal. 2024 Jan 22:e25002. doi: 10.1002/jcla.25002. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Mahdie Ghaffarpour et al.

INSTITUCIÓN / INSTITUTION: - Department of Oral Medicine, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.

RESUMEN / SUMMARY: - Background: Periodontal diseases (PDs) have been documented to be significantly more prevalent and severe in patients with Down syndrome (DS). Different immunological and microbiological factors contributed to predisposing these patients to progressive and recurrent PDs. Aim: The aim of this review was to investigate the altered immunological responses and oral microbiota disorders as well as focus on adjunctive non-surgical methods for the treatment of PDs and its applicability in patients with DS. Material and methods: A literature review was conducted addressing the following topics: (1) the altered immunological responses, (2) orofacial disorders related to DS patients, (3) oral microbiota changing, and (4) adjunctive non-surgical treatment and its efficacy in patients with DS. Results: Due to the early onset of PDs in children with DS, the need for prompt and effective treatment in these patients is essential. Discussion and conclusion: So, investigating underlying factors may open a new window to better understand the pathology of PDs in DS people and thus, find better strategies for treatment in such group. Although non-surgical treatments such as photodynamic therapy and probiotic consumption represented acceptable outcomes in different examined patients without DS, data about the application of these convenience and no need for local anesthesia methods in patients with DS is limited.


TÍTULO / TITLE: - Effectiveness of oral motor appliances on oral motor function and speech in children: a systematic review

Enlace al Resumen

REVISTA / JOURNAL: - Acta Odontol Scand. 2024 Jan;82(1):9-17. doi: 10.1080/00016357.2023.2249547. Epub 2023 Aug 24.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Anna-Maria Pelkonen et al

INSTITUCIÓN / INSTITUTION: - Research Unit of Population Health, University of Oulu, Oulu, Finland.

RESUMEN / SUMMARY: - Background: Different oral motor appliances have been used in connection with speech therapy to improve oral motor function and speech development, but no consensus has been reached on the effectiveness of the appliances. The objective was to systematically review the effectiveness of oral motor appliances on oral motor function and speech in children with speech sound disorders (SSDs) or oral motor dysfunctions. Methods: A systematic search was conducted up to February 2023 in the PubMed, Scopus, and Cochrane databases. Inclusion criteria were prospective randomized or case-control clinical trials investigating the effect of intraoral appliances on orofacial function and/or speech. The risk of bias was evaluated by the Cochrane Collaboration s Robins-I tool. Results: Nine publications of three individual studies met the inclusion and search criteria. Six of the publications were conducted in children with Down Syndrome (DS) and three publications were conducted in children with Cerebral Palsy (CP). No meta-analysis was made due to the limitations of the publications. Selected studies reported some beneficial effects of intraoral appliances on oral motor function in children with DS and CP, although the evidence is low. Due to the study design in selected studies and confounding factors, the overall risk of bias was categorized as moderate or high. Discussion: Intraoral appliances may improve oral motor function in children with DS and CP. Due to lack of studies this review limited to children with DS and CP. The initial question concerning SSDs was not answered. Well-designed RCTs with larger sample sizes are needed, especially among non-syndromic children with SSDs. The level of evidence was considered very low.


TÍTULO / TITLE: - Enhancing special care dentistry with waiting room based multisensory-adapted dental environment: A randomized controlled-trial

Enlace al Resumen

REVISTA / JOURNAL: - Spec Care Dentist. 2024 Jan 17. doi: 10.1111/scd.12962. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Shivani Mehta et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatric and Preventive Dentistry, D.Y. Patil University School of Dentistry, Navi Mumbai, Maharashtra, India.

RESUMEN / SUMMARY: - Aim: To assess the effectiveness of waiting room based multisensory adapted dental environment (SADE) as a novel, non-invasive behavior management technique in alleviating anxiety levels in children with Down syndrome. Materials and methods: This study was conducted in the Department of Pediatric and Preventive Dentistry, D.Y. Patil University School of Dentistry, Nerul, Navi Mumbai. A total of 40 children between 8 and 13 years of age diagnosed with Down syndrome were included in our study. Prior to the first dental evaluation, they were divided equally into two groups using simple randomization via lottery system. Group A (Intervention group): Patients were subjected to a sensory adapted environment (SADE) in the waiting room for 10 min prior to dental evaluation. Group B (Control group): Patients were subjected to a regular dental environment (RDE) in the waiting room for 10 min prior to dental evaluation. Outcome parameters evaluated at baseline and post dental evaluation were anxiety and behavior, using a pulse oximeter and the Modified Venham s Scale respectively. Data were subjected to statistical analysis using SPSS version 21.0 (SPSS Inc. Chicago, IL). The p value < .05 was taken as significant at 95% confidence interval. Results: Mann-Whitney U test was used to carry out the inter group analysis which showed a significant increase in the heart rate (26.00, p = .00) in Group B and a significant decrease in the Modified Venham Scale score (90.00, p = .001) in Group A. The Wilcoxon Signed ranks test was used to carry out the intra group analysis for which a significant difference between the two time intervals for heart rate (-3.69, p = .00) and Modified Venham Scale score (-1.46, p = .03) was obtained in Group A whereas a significant difference was obtained only in the heart rate (-3.04, p = .002) in Group B. Conclusion: Multisensory-adapted dental environment (SADE) in the waiting room effectively improves behavior, reduces anxiety and sensory discomfort


Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE: - Challenges and adverse events in pediatric hypoglossal nerve stimulation

Enlace al Resumen

REVISTA / JOURNAL: - Int J Pediatr Otorhinolaryngol. 2024 Jan:176:111831. doi: 10.1016/j.ijporl.2023.111831. Epub 2023 D

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Doug Chieffe et al

INSTITUCIÓN / INSTITUTION: - Massachusetts Eye and Ear Infirmary, USA.

RESUMEN / SUMMARY: - Introduction: Hypoglossal nerve stimulation was recently FDA approved for use in children with Down Syndrome and persistent obstructive sleep apnea. Although there is a robust experience in hypoglossal nerve stimulation in adults, we observed several challenges that are unique to providing this therapy to a complex pediatric population with a high rate of sensory processing disorders. We sought to review the adverse events and challenges to inform clinicians as hypoglossal nerve stimulation becomes a more accessible option for this complex population. Methods: Retrospective case series of children with Down Syndrome and persistent OSA who underwent hypoglossal nerve stimulation. Inclusion and exclusion criteria included Down Syndrome, age 10-22 years, persistent severe OSA after adenotonsillectomy (AHI>10 with <25 % central or mixed events), inability to tolerate positive airway pressure, and absence of concentric palatal collapse on sleep endoscopy. Patients were identified and their charts were reviewed. Adverse events and their subsequent management were recorded. The major outcome variable was the total number of adverse events. Results: A total of 53 patients underwent implantation of a hypoglossal nerve stimulator; 35 (66 %) patients were male and the average age at implantation was 15.1 years (standard deviation 3.0y). A total of 30 adverse events were noted, including 17 nonserious and 13 serious. The most common nonserious complications included temporary tongue discomfort, rash at the surgical site, and cellulitis. Serious complications included readmission (for cellulitis, pain, and device extrusion), reoperation (most commonly for battery depletion) and pressure ulcer formation. Conclusion: Hypoglossal nerve stimulation provides a much-needed therapy for children with DS and persistent OSA after adenotonsillectomy. Although there is a robust experience in providing this treatment to adults, many considerations must be made when adapting this technology


TÍTULO / TITLE: - Transoral robotic lingual tonsillectomy in patients with trisomy 21 and obstructive sleep apnea

Enlace al Resumen

REVISTA / JOURNAL: - Am J Otolaryngol. 2023 Nov-Dec;44(6):103981. doi: 10.1016/j.amjoto.2023.103981. Epub 2023 Jul 5.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Timothy Mikulski et al.

INSTITUCIÓN / INSTITUTION: - 1Tufts University School of Medicine, Boston, MA, USA.

RESUMEN / SUMMARY: -


TÍTULO / TITLE: - Long-Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Enlace al Resumen

REVISTA / JOURNAL: - Otolaryngol Head Neck Surg. 2024 Feb;170(2):595-604. doi: 10.1002/ohn.566. Epub 2023 Oct 23.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Somya Shankar et al.

INSTITUCIÓN / INSTITUTION: - 1Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.

RESUMEN / SUMMARY: - Objective: To better understand the long-term health implications of obstructive sleep apnea (OSA) on patients with Trisomy 21 (T21) and the role of sleep surgery as a therapeutic intervention. Study design: Retrospective large database review. Setting: The prevalence of OSA is as high as 75% in patients with T21. We sought to examine the cardiovascular, neurological, and endocrinological outcomes of patients with T21 10 years after their diagnosis of OSA. Methods: TriNetX, an electronic medical record database, was queried for health outcomes in patients with T21 after diagnosis of OSA. The group was further analyzed to identify those who underwent sleep surgery, including hypoglossal nerve stimulation, palatopharyngoplasty, or adenotonsillectomy. Results: Ten years after diagnosis, patients with OSA and T21 had a significantly higher incidence of death, myocardial infarction, cerebral infarction, heart failure, cardiac arrhythmia, ischemic heart disease, atrial fibrillation, essential hypertension, pulmonary hypertension, diabetes mellitus, and Alzheimer s disease compared to patients with T21 alone. Patients with OSA and T21 who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to patients using continuous positive airway pressure. Conclusion: Our findings suggest that patients with T21 and OSA are at higher risk of poor health outcomes, which may require closer monitoring for earlier diagnosis and management of comorbid conditions. Sleep surgery is a suitable treatment modality for mitigating the risk of adverse outcomes in this population and should be considered in patients who are eligible surgical candidates.


TÍTULO / TITLE: - Pediatric Down Syndrome Upper Airway Stimulation: Patient Selection and Post-Implantation Optimization

Enlace al Resumen

REVISTA / JOURNAL: - Otolaryngol Head Neck Surg. 2024 Jan 3. doi: 10.1002/ohn.633. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Doug Chieffe et al

INSTITUCIÓN / INSTITUTION: - Massachusetts Eye and Ear Infirmary, Boston, USA.

RESUMEN / SUMMARY: - Objective: The Food and Drug Administration recently approved upper airway stimulation (UAS) for children with Down Syndrome and persistent obstructive sleep apnea who meet certain inclusion and exclusion criteria. Although there is a robust experience with this therapy in the adult population, established protocols used in adults are not directly transferrable to a complex pediatric population. This review aims to combine the protocols from several institutions for patient selection and postimplantation optimization, including a protocol for Drug-Induced Sleep Endoscopy in children with Down Syndrome, preactivation threshold measurements, device titration, and follow-up sleep studies. Study design: Expert panel development of best Practice algorithm. Setting: Multi-institutional investigator review. Methods: An expert panel was assembled of pediatric otolaryngologists with extensive experience in hypoglossal nerve stimulation in children with Down Syndrome. Thirty statements were created during an initial drafting session. A modified Delphi method was used assess consensus among the panel. Results: After 2 rounds of Delphi surveys, 29 statements met criteria for consensus. One statement did not meet consensus. The statements were grouped into several categories to facilitate presentation. Conclusions: A standardized approach to UAS for children with Down Syndrome must take into account the unique challenges inherent to treating a complex pediatric population with a high rate of sensory processing disorders. This expert panel has met consensus on several statements that will guide clinicians as this novel therapy is adopted.


Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE: - Editorial: Endocrine dysfunction in patients with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front Endocrinol (Lausanne). 2023 Dec 18:14:1336637. doi: 10.3389/fendo.2023.1336637. eCollection 2

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Eli Hershkovitz, David Strich

INSTITUCIÓN / INSTITUTION: - Pediatric Endocrinology & Metabolisms Unit, Soroka Medical Center, Beersheba, Israel.

RESUMEN / SUMMARY: - Editorial. Down syndrome is a genetic disorder caused by an extra full or partial copy of chromosome 21. It is the most common genomic disorder of intellectual disability, with an estimated live birth prevalence of 1 in 800. The lifetime prevalence of Down syndrome is increasing substantially. For example, in the United States, the population prevalence of Down syndrome increased from approximately 50,000 in 1950 (3.3 per 10,000 individuals) to approximately 212,000 in 2013 (6.7 per 10,000 individuals). The life expectancy of individuals with Down syndrome has increased significantly, primarily due to improved childhood survival. In the United States, life expectancy has increased from an estimated mean of 26 years and median of 4 years in 1950 to 53 years and 58 years, respectively, in 2010). The pathophysiology of DS is complex but chromosome 21 trisomy leads to overexpressed genes and developmental instability, in which non-specific global disturbance of gene expression from the extra chromosome results in disruption of overall biological homeostasis. In addition to intellectual disability, Down syndrome is associated with a number of medical conditions, including congenital heart disease, obstructive sleep apnea, celiac disease, and endocrine disorders. Endocrine disorders, such as thyroid dysfunction, low bone mass, diabetes, short stature, infertility, and obesity, are much more common in individuals with Down syndrome than in the general population. This Research Topic, “Endocrine Dysfunction in Down Syndrome,” brings some important aspects to the forefront.


TÍTULO / TITLE: - Imbalanced dietary patterns, anthropometric, and body composition profiles amongst adults with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Nutr Neurosci. 2024 Feb;27(2):96-105. doi: 10.1080/1028415X.2022.2161139. Epub 2022 Dec 29.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - L Herrera-Quintana et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology "José Mataix", University of Granada, Granada, Spain.

RESUMEN / SUMMARY: - Introduction: We aimed to analyze the anthropometric and body composition profiles of Down syndrome (DS) adults; to describe their dietary habits, nutrient intake, and physical activity patterns; and to identify the related risk factors which may influence their health status and quality of life. Methods: A cross-sectional study was conducted on a cohort of 23 DS adults (45% women) aged 21-44 years. Anthropometry and body composition were assessed by bioelectrical impedance. Dietary nutrient intake was assessed quantitatively using a 72-h recall. A food frequency questionnaire and the prevention with Mediterranean diet-PREDIMED questionnaire were used for qualitative rating. Results: Higher fat mass (FM) and lower lean mass (LM), bone mass (BM), and waist to hip ratio (WHR) were observed in women compared to men. LM and BM decreased, and body mass index (BMI), FM, and WHR increased with aging (all P < 0.05). Vitamin D and iodine intakes were not met by 70% and 60% of the studied participants, respectively. A total of 82% of the participants consumed less than 5 portions of fruits and vegetables per day and overconsumed food groups such as sweets and snacks and red meat (> 2 times per week). Protein intake showed a significant positive correlation with height (r = 0.489, P < 0.05), whereas fat intake was positively correlated with sweets and snacks (r = 0.521, P < 0.05). Conclusion: The present findings support the existence of poor anthropometric and body composition profiles, and diet quality, underscoring the need for an interdisciplinary team assessment to enhance health and quality of life in DS adults.


Epidemiology - Epidemiología

TÍTULO / TITLE: - High mortality rate of preterm infants with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Pediatr Res. 2024 Jan 3. doi: 10.1038/s41390-023-03003-4. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Masahiko Kawai

INSTITUCIÓN / INSTITUTION: - Department of Neonatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

RESUMEN / SUMMARY: -


Genetics - Genética

TÍTULO / TITLE: - Transcriptome research of human amniocytes identifies hub genes associated with developmental dysplasia in Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Aging (Albany NY). 2023 Dec 12;15(23):14086-14108. doi: 10.18632/aging.205291. Epub 2023 Dec 12.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Zhenglong Guo et al

INSTITUCIÓN / INSTITUTION: - Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, Peo

RESUMEN / SUMMARY: - Trisomy 21, or Down syndrome (DS), is the most frequent human autosomal chromosome aneuploidy, which leads to multiple developmental disorders, especially mental retardation in individuals. The presence of an additional human chromosome 21 (HSA21) could account for the pathological manifestations in DS. In this study, we analyzed the mRNA gene expression profile of DS-derived amniocytes compared with normal amniocytes, aiming to evaluate the relationship between candidate dysregulated HSA21 genes and DS developmental phenotypes. Differentially expressed genes (DEGs) included 1794 upregulated genes and 1411 downregulated genes, which are mainly involved in cell adhesion, inflammation, cell proliferation and thus may play an important role in inducing multiple dysplasia during DS fetal development. Furthermore, STRING protein network studies demonstrated 7 candidate HSA21 genes participated Gene Ontology (GO) terms: cell adhesion and extracellular matrix remodeling (COL6A1, COL6A2, COL18A1, ADAMTS5, JAM2, and POFUT2), inflammation and virus infection response (MX1 and MX2), histone modification and chromatin remodeling (NRIP1), glycerolipid and glycerophospholipid metabolism (AGPAT3), mitochondrial function (ATP5PF and ATP5PO), synaptic vesicle endocytosis (ITSN1 and SYNJ1) and amyloid metabolism (APP). Meanwhile, GSEA enrichment identified several transcription factors and miRNAs, which may target gene expression in the DS group. Our study established connections between dysregulated genes, especially HSA21 genes, and DS-associated phenotypes. The alteration of multiple pathways and biological processes may contribute to DS developmental disorders, providing potential pathogenesis and therapeutic targets for DS.


TÍTULO / TITLE: - Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Am J Obstet Gynecol 2024 Feb;230(2):258.e1-258.e11

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - April D Adams et al.

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; Department of Obstetrics and Gynecology, Baylor College of Medicin

RESUMEN / SUMMARY: - Background: Down syndrome is associated with several comorbidities, including intellectual disability, growth restriction, and congenital heart defects. The prevalence of Down syndrome-associated comorbidities is highly variable, and intellectual disability, although fully penetrant, ranges from mild to severe. Understanding the basis of this interindividual variability might identify predictive biomarkers of in utero and postnatal outcomes that could be used as endpoints to test the efficacy of future therapeutic interventions. Objective: The main objective of this study was to examine if antenatal interindividual variability exists in mouse models of Down syndrome and whether applying statistical approaches to clinically relevant measurements (ie, the weights of the embryo, placenta, and brain) could define cutoffs that discriminate between subgroups of trisomic embryos. Study design: Three commonly used mouse models of Down syndrome (Dp(16)1/Yey, Ts65Dn, and Ts1Cje) and a new model (Ts66Yah) were used in this study. Trisomic and euploid littermate embryos were used from each model with total numbers of 102 for Ts66Yah, 118 for Dp(16)1/Yey, 92 for Ts65Dn, and 126 for Ts1Cje. Placental, embryonic, and brain weights and volumes at embryonic day 18.5 were compared between genotypes in each model. K-mean clustering analysis was applied to embryonic and brain weights to identify severity classes in trisomic embryos, and brain and placental volumetric measurements were compared between genotypes and classes for each strain. In addition, Ts66Yah embryos were examined for malformations because embryonic phenotypes have never been examined in this model. Results: Reduced body and brain weights were present in Ts66Yah, Dp(16)1/Yey, and Ts65Dn embyos. Cluster analysis identified 2 severity classes in trisomic embryos-mild and severe-in all 4 models that were distinguishable using a putative embryonic weight cutoff of <0.5 standard deviation below the mean. Ts66Yah trisomic e


TÍTULO / TITLE: - Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects

Enlace al Resumen

REVISTA / JOURNAL: - Hum Genet. 2009 Feb;125(1):41-52. doi: 10.1007/s00439-008-0603-8. Epub 2008 Dec 3.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Emily Graves Allen et al.

INSTITUCIÓN / INSTITUTION: - Department of Human Genetics, Emory University, 2165 North Decatur Rd, Decatur, Atlanta, GA 30030, USA.

RESUMEN / SUMMARY: - We examined the association between maternal age and chromosome 21 nondisjunction by origin of the meiotic error. We analyzed data from two population-based, case-control studies: Atlanta Down Syndrome Project (1989-1999) and National Down Syndrome Project (2001-2004). Cases were live born infants with trisomy 21 and controls were infants without trisomy 21 delivered in the same geographical regions. We enrolled 1,215 of 1,881 eligible case families and 1,375 of 2,293 controls. We report four primary findings. First, the significant association between advanced maternal age and chromosome 21 nondisjunction was restricted to meiotic errors in the egg; the association was not observed in sperm or in post-zygotic mitotic errors. Second, advanced maternal age was significantly associated with both meiosis I (MI) and meiosis II (MII). For example, compared to mothers of controls, mothers of infants with trisomy 21 due to MI nondisjunction were 8.5 times more likely to be >or=40 years old than 20-24 years old at the birth of the index case (95% CI=5.6-12.9). Where nondisjunction occurred in MII, mothers were 15.1 times more likely to be >or=40 years (95% CI = 8.4-27.3). Third, the ratio of MI to MII errors differed by maternal age. The ratio was lower among women <19 years of age and those >or=40 years (2.1, 2.3, respectively) and higher in the middle age group (3.6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis.


TÍTULO / TITLE: - Comparative analysis of craniofacial shape in two mouse models of Down syndrome: Ts65Dn and TcMAC21

Enlace al Resumen

REVISTA / JOURNAL: - J Anat. 2024 Jan 24. doi: 10.1111/joa.14012. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Nandini Singh et al

INSTITUCIÓN / INSTITUTION: - California State University, Sacramento, California, USA

RESUMEN / SUMMARY: - Mouse models are central to studying and understanding the genotypic-to-phenotypic outcomes of Down syndrome (DS), a complex condition caused by an extra copy of the long arm of human chromosome 21. The recently developed TcMAC21-a transchromosomic mouse strain with comparable gene dosage to human chromosome 21 (Hsa21)-includes more Hsa21 genes than any other model of DS. Recent studies on TcMAC21 have provided valuable insight into the molecular, physiological, and neuroanatomical aspects of the model. However, relatively little is known about the craniofacial phenotype of TcMAC21 mice, particularly as it compares to the widely studied Ts65Dn model. Here we conducted a quantitative study of the cranial morphology of TcMAC21 and Ts65Dn mice and their respective unaffected littermates. Our comparative data comprise forty three-dimensional cranial measurements taken on micro-computed tomography scans of the heads of TcMAC21 and Ts65Dn mice. Our results show that TcMAC21 exhibit similar patterns of craniofacial change to Ts65Dn. However, the DS-specific morphology is more pronounced in Ts65Dn mice. Specifically, Ts65Dn present with more medio-lateral broadening and retraction of the snout compared to TcMAC21. Our findings reveal the complexity of potential gene interaction in the production of craniofacial phenotypes.


TÍTULO / TITLE: - Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy

Enlace al Resumen

REVISTA / JOURNAL: - BMC Pregnancy Childbirth. 2024 Jan 2;24(1):2. doi: 10.1186/s12884-023-06185-1.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Xiao-Xi Zhao, Le Le Bai

INSTITUCIÓN / INSTITUTION: - Department of Gynecology and Obstetrics, Affiliate Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010050, China

RESUMEN / SUMMARY: - Background: This study aimed to assess whether maternal telomere length is a more accurate predictor of trisomy 21 than maternal age while also exploring the factors influencing maternal and fetal telomere length. Methods: Forty mothers with fetuses carrying extra maternal copies of chromosome 21 were defined as trisomy 21 cases, and 18 mothers with normal karyotype fetuses were defined as controls. Telomere lengths of maternal blood lymphocytes and amniotic fluid cells were determined using real-time polymerase chain reaction. Fetal and maternal telomere lengths were compared between the two groups. Moreover, we analyzed the factors influencing maternal and fetal telomere length in the trisomy 21 pedigree. A logistic regression model was used to analyze the correlation between maternal telomere length and trisomy 21 risk. In addition, receiver operating characteristic (ROC) curve analysis was used to determine the accuracy of using maternal telomere length as an indicator of trisomy 21 risk. Results: The study revealed that both maternal and fetal telomere lengths were significantly shorter in trisomy 21 cases than in the controls. In the trisomy 21 group, the maternal age, occupation, and nationality showed no significant correlation with their telomere length; fetal telomere length exhibited a positive correlation with maternal telomere length. Furthermore, maternal telomere length shortening is associated with trisomy 21 (OR = 0.311; 95% CI, 0.109-0.885, P < 0.05). The results of ROC curve analysis indicated that a combined assessment of maternal age and maternal telomere length predicted fetal chromosome trisomy more effectively than a single assessment (area under the curve 0.808, 95% CI, 0.674-0.941, P < 0.001). Conclusion: Maternal age combined with maternal telomere length proved to be a superior predictor of trisomy risk. Additionally, maternal telomere length was found to influence fetal telomere length.


Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE: - Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Am J Obstet Gynecol. 2024 Feb;230(2):258.e1-258.e11

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - April D Adams et al.

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; Department of Obstetrics and Gynecology, Baylor College of Medicin

RESUMEN / SUMMARY: - Background: Down syndrome is associated with several comorbidities, including intellectual disability, growth restriction, and congenital heart defects. The prevalence of Down syndrome-associated comorbidities is highly variable, and intellectual disability, although fully penetrant, ranges from mild to severe. Understanding the basis of this interindividual variability might identify predictive biomarkers of in utero and postnatal outcomes that could be used as endpoints to test the efficacy of future therapeutic interventions. Objective: The main objective of this study was to examine if antenatal interindividual variability exists in mouse models of Down syndrome and whether applying statistical approaches to clinically relevant measurements (ie, the weights of the embryo, placenta, and brain) could define cutoffs that discriminate between subgroups of trisomic embryos. Study design: Three commonly used mouse models of Down syndrome (Dp(16)1/Yey, Ts65Dn, and Ts1Cje) and a new model (Ts66Yah) were used in this study. Trisomic and euploid littermate embryos were used from each model with total numbers of 102 for Ts66Yah, 118 for Dp(16)1/Yey, 92 for Ts65Dn, and 126 for Ts1Cje. Placental, embryonic, and brain weights and volumes at embryonic day 18.5 were compared between genotypes in each model. K-mean clustering analysis was applied to embryonic and brain weights to identify severity classes in trisomic embryos, and brain and placental volumetric measurements were compared between genotypes and classes for each strain. In addition, Ts66Yah embryos were examined for malformations because embryonic phenotypes have never been examined in this model. Results: Reduced body and brain weights were present in Ts66Yah, Dp(16)1/Yey, and Ts65Dn embyos. Cluster analysis identified 2 severity classes in trisomic embryos-mild and severe-in all 4 models that were distinguishable using a putative embryonic weight cutoff of <0.5 standard deviation below the mean. Ts66Yah trisomic e


TÍTULO / TITLE: - Imbalanced dietary patterns, anthropometric, and body composition profiles amongst adults with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Nutr Neurosci. 2024 Feb;27(2):96-105. doi: 10.1080/1028415X.2022.2161139. Epub 2022 Dec 29.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - L Herrera-Quintana et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiology, School of Pharmacy, Institute of Nutrition and Food Technology "José Mataix", University of Granada, Granada, Spain

RESUMEN / SUMMARY: - Introduction: We aimed to analyze the anthropometric and body composition profiles of Down syndrome (DS) adults; to describe their dietary habits, nutrient intake, and physical activity patterns; and to identify the related risk factors which may influence their health status and quality of life. Methods: A cross-sectional study was conducted on a cohort of 23 DS adults (45% women) aged 21-44 years. Anthropometry and body composition were assessed by bioelectrical impedance. Dietary nutrient intake was assessed quantitatively using a 72-h recall. A food frequency questionnaire and the prevention with Mediterranean diet-PREDIMED questionnaire were used for qualitative rating. Results: Higher fat mass (FM) and lower lean mass (LM), bone mass (BM), and waist to hip ratio (WHR) were observed in women compared to men. LM and BM decreased, and body mass index (BMI), FM, and WHR increased with aging (all P < 0.05). Vitamin D and iodine intakes were not met by 70% and 60% of the studied participants, respectively. A total of 82% of the participants consumed less than 5 portions of fruits and vegetables per day and overconsumed food groups such as sweets and snacks and red meat (> 2 times per week). Protein intake showed a significant positive correlation with height (r = 0.489, P < 0.05), whereas fat intake was positively correlated with sweets and snacks (r = 0.521, P < 0.05). Conclusion: The present findings support the existence of poor anthropometric and body composition profiles, and diet quality, underscoring the need for an interdisciplinary team assessment to enhance health and quality of life in DS adults.


Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE: - Detection of transient abnormal myelopoiesis blasts in a liver biopsy specimen by double-immunostaining for full-length GATA1 and CD42b

Enlace al Resumen

REVISTA / JOURNAL: - Hematology. 2023 Dec;28(1):2240135. doi: 10.1080/16078454.2023.2240135.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Azusa Haba et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.

RESUMEN / SUMMARY: - Background: Transient abnormal myelopoiesis (TAM) is characterized by leukocytosis with increased circulating megakaryoblasts that harbor N-terminal truncating mutations in the GATA1 gene. Approximately 10% of affected patients experience early death. Observations: A 2-month-old boy with Down syndrome was diagnosed with TAM and followed without treatment. Although the blasts in the peripheral blood disappeared, liver failure progressed. A pathological examination revealed liver fibrosis, and double-immunostaining for full-length GATA1 and CD42b identified megakaryocytes with a GATA1 mutation. Conclusions: This simple and cost-effective method can be applied in routine practice to detect TAM blasts during assessment in a TAM crisis.


TÍTULO / TITLE: - Outcomes in Children, Adolescents, and Young Adults With Down Syndrome and ALL: A Report From the Children s Oncology Group

Enlace al Resumen

REVISTA / JOURNAL: - J Clin Oncol. 2024 Jan 10;42(2):218-227. doi: 10.1200/JCO.23.00389. Epub 2023 Oct 27.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Karen R Rabin et al

INSTITUCIÓN / INSTITUTION: - Baylor College of Medicine, Houston, TX

RESUMEN / SUMMARY: - Purpose: Patients with Down syndrome (DS) and B-ALL experience increased rates of relapse, toxicity, and death. We report results for patients with DS B-ALL enrolled on Children s Oncology Group trials between 2003 and 2019. Methods: We analyzed data for DS (n = 743) and non-DS (n = 20,067) patients age 1-30 years on four B-ALL standard-risk (SR) and high-risk trials. Results: Patients with DS exhibited more frequent minimal residual disease (MRD) ≥0.01% at end induction (30.8% v 21.5%; P < .001). This difference persisted at end consolidation only in National Cancer Institute (NCI) high-risk patients (34.0% v 11.7%; P < .0001). Five-year event-free survival (EFS) and overall survival (OS) were significantly poorer for DS versus non-DS patients overall (EFS, 79.2% ± 1.6% v 87.5% ± 0.3%; P < .0001; OS, 86.8% ± 1.4% v 93.6% ± 0.2%; P < .0001), and within NCI SR and high-risk subgroups. Multivariable Cox regression analysis of the DS cohort for risk factors associated with inferior EFS identified age >10 years, white blood count >50 × 103/μL, and end-induction MRD ≥0.01%, but not cytogenetics or CRLF2 overexpression. Patients with DS demonstrated higher 5-year cumulative incidence of relapse (11.5% ± 1.2% v 9.1% ± 0.2%; P = .0008), death in remission (4.9% ± 0.8% v 1.7% ± 0.1%; P < .0001), and induction death (3.4% v 0.8%; P < .0001). Mucositis, infections, and hyperglycemia were significantly more frequent in all patients with DS, while seizures were more frequent in patients with DS on high-risk trials (4.1% v 1.8%; P = .005). Conclusion: Patients with DS-ALL exhibit an increased rate of relapse and particularly of treatment-related mortality. Novel, less-toxic therapeutic strategies are needed to improve outcomes.


TÍTULO / TITLE: - Six Years of Disease-free Survival After a Second Cord Blood Transplantation for Recurrent Acute Lymphocytic Leukemia in a Child With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - J Pediatr Hematol Oncol. 2024 Jan 1;46(1):e100-e102. doi: 10.1097/MPH.0000000000002794. Epub 202

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Momoka Aoshima et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.

RESUMEN / SUMMARY: - Outcomes are extremely poor in Down syndrome-associated acute lymphocytic leukemia, particularly in recurrent cases. A 2-year-old boy with Down syndrome-associated acute lymphocytic leukemia achieved complete remission after standard chemotherapy. However, he experienced recurrence twice in the bone marrow and central nervous system. Salvage treatments included whole-brain/whole-spine irradiation. Thereafter, the patient received a second cord blood transplantation after the reduced-intensity conditioning. The graft was characterized by killer cell immunoglobulin-like receptor ligands mismatch. The patient has subsequently survived for 6.5 years without recurrence. We speculate that killer cell immunoglobulin-like receptor ligand-mismatched cord blood transplantation enhanced the graft-versus-leukemia effect through natural killer cells, and conferred long-term remission.


TÍTULO / TITLE: - Neurocognitive and psychosocial outcomes in survivors of childhood leukemia with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Cancer Med. 2024 Jan 19. doi: 10.1002/cam4.6842. Online ahead of print

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Kellen Gandy et al.

INSTITUCIÓN / INSTITUTION: - 1Department of Psychology and Biobehavioral Sciences, St. Jude Children s Research Hospital, Memphis, Tennessee, USA

RESUMEN / SUMMARY: - : Objective: The primary aim of this study was to assess the feasibility of a developmentally tailored neurocognitive assessment in survivors of childhood acute leukemia with Down syndrome (DS-leukemia). A secondary aim was to compare outcomes in the DS-leukemia group to a historical comparison group of individuals with DS and no history of childhood cancer. Methods: Survivors of DS-leukemia (n = 43; 56% male, mean [SD] age at diagnosis = 4.3 [4.5] years; age at evaluation = 15 [7.9] years) completed a neurocognitive assessment battery that included direct measures of attention, executive function, and processing speed, and proxy ratings of attention problems and executive dysfunction. Direct assessment outcomes were compared to a historical comparison cohort of individuals with DS and no history of childhood cancer (DS-control; n = 117; 56% male, mean [SD] age at evaluation = 12.7 [3.4] years). Results: Rates of valid task completion ranged from 54% to 95%, suggesting feasibility for most direct assessment measures. Compared to the DS-control group, the DS-leukemia group had significantly lower completion rates on measures of executive function (p = 0.008) and processing speed (p = 0.018) compared to the DS-control group. There were no other significant group differences in completion rates. Compared to the DS-control group, the DS-leukemia group had significantly more accurate performance on two measures of executive function (p = 0.032; p = 0.005). Compared to the DS-control group, the DS-leukemia group had significantly more problems with executive function as identified on proxy ratings (6.5% vs. 32.6%, p = <0.001). Conclusion: Children with Down syndrome (DS) are at increased risk for developing acute leukemia compared to the general population but are systematically excluded from neurocognitive outcome studies among leukemia survivors. This study demonstrated the feasibility of evaluating neurocognitive late effects in leukemia survivors with DS using novel m


Infectious diseases - Infecciones

TÍTULO / TITLE: - Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Enlace al Resumen

REVISTA / JOURNAL: - Immun Ageing. 2024 Jan 2;21(1):2. doi: 10.1186/s12979-023-00402-3.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Cristina Rodriguez-Rodriguez et al.

INSTITUCIÓN / INSTITUTION: - Department of Immunology and Oncology, Spanish National Centre for Biotechnology (CNB-CSIC), UAM Campus de Cantoblanco, Darwin 3, 28049, Madrid, Spain.

RESUMEN / SUMMARY: - Background: Sorting Nexin 27 (SNX27)-retromer complex facilitates cargo recycling from endosomes to the plasma membrane. SNX27 downregulation in neurons, as the result of Trisomy 21 (T21), has been linked with cognitive deficits due to impairment of AMPA and NMDA receptor recycling. Studies in human T cell lines likewise demonstrated that SNX27 regulates the correct delivery of cargoes to the immune synapse limiting the activation of pro-inflammatory pathways. Nevertheless, the physiological consequences of partial SNX27 loss in T cell homeostasis are still unclear. Results: In this study, we have explored the consequences of T cell specific partial SNX27 downregulation in mice. T cells with partial SNX27 deficiency show a marked deficit in the CD4+ T cell pool, a hallmark of aging in mice and humans, and a well-characterized comorbidity of individuals with Down syndrome (DS). When analyzed ex vivo, CD4+ T cells with partial SNX27 deletion demonstrate enhanced proliferation but diminished IL-2 production. In contrast, the CD8+ population show enhanced expression of pro-inflammatory cytokines and lytic enzymes. Conclusions: This mouse model supports the relevance of SNX27 in the organization of the immune synapse, previously described in cell lines, as well as in the control of T cell homeostasis. Individuals with DS experiment an acceleration of the aging process, which particularly affects the immune and central nervous systems. Thus, we hypothesize that reduced SNX27 expression in DS could contribute to the dysregulation of these systems and further research in SNX27 will shed light on the molecular factors underlying the phenotypes observed in people with DS and its contribution to aging.


Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE: - Intersectin - many facets of a scaffold protein

Enlace al Resumen

REVISTA / JOURNAL: - Biochem Soc Trans. 2024 Jan 4:BST20211241. doi: 10.1042/BST20211241. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Mubashir Mintoo et al.

INSTITUCIÓN / INSTITUTION: - Department of Cell and Molecular Pharmacology and Experimental Therapeutics, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, U.S.A.

RESUMEN / SUMMARY: - Intersectin (ITSN) is a multi-domain scaffold protein with a diverse array of functions including regulation of endocytosis, vesicle transport, and activation of various signal transduction pathways. There are two ITSN genes located on chromosomes 21 and 2 encoding for proteins ITSN1 and ITSN2, respectively. Each ITSN gene encodes two major isoforms, ITSN-Long (ITSN-L) and ITSN-Short (ITSN-S), due to alternative splicing. ITSN1 and 2, collectively referred to as ITSN, are implicated in many physiological and pathological processes, such as neuronal maintenance, actin cytoskeletal rearrangement, and tumor progression. ITSN is mis-regulated in many tumors, such as breast, lung, neuroblastomas, and gliomas. Altered expression of ITSN is also found in several neurodegenerative diseases, such as Down Syndrome and Alzheimer s disease. This review summarizes recent studies on ITSN and provides an overview of the function of this important family of scaffold proteins in various biological processes.


Neurobiology - Neurobiología

TÍTULO / TITLE: - New insights into the effects of APP gene dose on synapse in Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Neural Regen Res. 2024 May;19(5):961-962. doi: 10.4103/1673-5374.382245.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Xu-Qiao Chen, Xinxin Zuo

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

RESUMEN / SUMMARY: - Our research revealed decreased levels of several synaptic proteins in the frontal cortex of individuals with AD and DS-AD, including SNARE proteins syntaxin 1A and SNAP25, synaptic vesicle proteins synaptophysin and synapsin 1, as well as postsynaptic density protein PSD95. Notably, reductions in SNARE complex levels were correlated with changes in other synaptic proteins, indicating that the loss of these essential proteins necessary for neurotransmitter transmission may signify synaptic dysfunction or loss in DS-AD. Changes in this set of proteins in the brains of DS-AD subjects are consistent with sporadic AD cases. However, no changes in synaptic proteins or SNARE complexes were observed in DS patients without dementia, suggesting that molecular and cellular events that lead to synaptic dysfunction and defects may jointly contribute to the potential pathogenesis of DS-AD and AD comorbidities. Consistently, we observed a notable age-dependent decline in the levels of SNARE proteins syntaxin 1A and SNAP25 in the Dp16 DS mouse model. Notably, findings from both the rare case of partial trisomy 21 (PT-DS) and Dp16 mice with App gene normalization (Dp16: App++−) indicate that an increased dosage of the APP gene is crucial for synaptic dysfunction or loss.


TÍTULO / TITLE: - Memory consolidation in honey bees is enhanced by down-regulation of Down syndrome cell adhesion molecule and changes its alternative splicing

Enlace al Resumen

REVISTA / JOURNAL: - Front Mol Neurosci. 2024 Jan 9:16:1322808. doi: 10.3389/fnmol.2023.1322808. eCollection 2023

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Pinar Ustaoglu et al.

INSTITUCIÓN / INSTITUTION: - School of Biosciences, College of Life and Environmental Sciences, University of Birmingham, Birmingham, United Kingdom.

RESUMEN / SUMMARY: - Down syndrome cell adhesion molecule (Dscam) gene encodes a cell adhesion molecule required for neuronal wiring. A remarkable feature of arthropod Dscam is massive alternative splicing generating thousands of different isoforms from three variable clusters of alternative exons. Dscam expression and diversity arising from alternative splicing have been studied during development, but whether they exert functions in adult brains has not been determined. Here, using honey bees, we find that Dscam expression is critically linked to memory retention as reducing expression by RNAi enhances memory after reward learning in adult worker honey bees. Moreover, alternative splicing of Dscam is altered in all three variable clusters after learning. Since identical Dscam isoforms engage in homophilic interactions, these results suggest a mechanism to alter inclusion of variable exons during memory consolidation to modify neuronal connections for memory retention.


TÍTULO / TITLE: - EGCG-like non-competitive inhibitor of DYRK1A rescues cognitive defect in a down syndrome model

Enlace al Resumen

REVISTA / JOURNAL: - Eur J Med Chem. 2024 Feb 5:265:116098. doi: 10.1016/j.ejmech.2023.116098. Epub 2024 Jan 1.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Jean M Delabar et al.

INSTITUCIÓN / INSTITUTION: - Paris Brain Institute (ICM), Centre National de la Recherche Scientifique (CNRS) UMR 7225, INSERM U1127, Sorbonne Universite, Hopital de la Pitie-Salpetriere, Paris, 75013, France

RESUMEN / SUMMARY: - Overexpression of the chromosome 21 DYRK1A gene induces morphological defects and cognitive impairments in individuals with Down syndrome (DS) and in DS mice models. Aging neurons of specific brain regions of patients with Alzheimer s disease, DS and Pick s disease have increased DYRK1A immunoreactivity suggesting a possible association of DYRK1A with neurofibrillary tangle pathology. Epigallocatechin-3-gallate (EGCG) displays appreciable inhibition of DYRK1A activity and, contrary to all other published inhibitors, EGCG is a non-competitive inhibitor of DYRK1A. Prenatal exposure to green tea polyphenols containing EGCG protects from brain defects induced by overexpression of DYRK1A. In order to produce more robust and possibly more active analogues of the natural compound EGCG, here we synthetized new EGCG-like molecules with several structural modifications to the EGCG skeleton. We replaced the ester boun of EGCG with a more resistant amide bond. We also replaced the oxygen ring by a methylene group. And finally, we positioned a nitrogen atom within this ring. The selected compound was shown to maintain the non-competitive property of EGCG and to correct biochemical and behavioral defects present in a DS mouse model. In addition it showed high stability and specificity.


Neurology - Neurología

TÍTULO / TITLE: - Diagnosis and treatment of status epilepticus in Down Syndrome (DS): A case report and systematic literature review

Enlace al Resumen

REVISTA / JOURNAL: - Seizure. 2024 Jan:114:90-95. doi: 10.1016/j.seizure.2023.11.009. Epub 2023 Nov 20

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Clarissa Corniello et al

INSTITUCIÓN / INSTITUTION: - Department of Neuroscience, Imaging and Clinical Science, "G. d Annunzio" University of Chieti-Pescara, Chieti, Italy; Epilepsy Center, Neurology Department, "SS Annunziata" Hospital, Chieti, Italy

RESUMEN / SUMMARY: - Introduction: Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly showing a phenotype labeled as "Late-onset myoclonic epilepsy" (LOMEDS). Status epilepticus (SE) is a life-threatening complication in patients with epilepsy. In this study, we described a non-convulsive SE (NCSE) case in a patient diagnosed with LOMEDS. We also performed a systematic review of the literature on SE diagnosis and treatment in patients with Down Syndrome. Methods: Clinical and demographic characteristics of a DS patient diagnosed with NCSE were described. The systematic literature search dissected the diagnostic and therapeutic management of SE in patients with DS. The following databases were used: PubMed, EMBASE, and Google Scholar. Results: 5 DS individuals (4 from the past literature + 1 novel case report) with SE have been identified. The median age at SE onset was 42 years (IQR: 21-60.5 years). The most common SE type was myoclonic SE (MSE), followed by NCSE. Two cases of acute symptomatic etiology were described, whereas a progressive symptomatic etiology was otherwise reported. Ictal EEG recording information was available in two patients who showed generalized spike waves and polyspike and wave discharges. In 3 cases, SE was treated with intravenous antiseizure medications that produced a complete resolution. Conclusion: SE may represent a rare complication in patients with DS. Although no definitive conclusions may be achieved due to the lack of evidence, treatment with valproic acid seems effective, especially in MSE. NCSE management is more challenging. It requires low doses of anesthetics, which should be used cautiously due to the high rate of complications.


TÍTULO / TITLE: - Voxel-based dysconnectomic brain morphometry with computed tomography in Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Ann Clin Transl Neurol. 2024 Jan;11(1):143-155. doi: 10.1002/acn3.51940. Epub 2023 Dec 29.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Beatriz Sanchez-Moreno et al.

INSTITUCIÓN / INSTITUTION: - Adult Down Syndrome Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, Madrid, Spain.

RESUMEN / SUMMARY: - Objective: Alzheimer s disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability. Likewise, acquisition of magnetic resonance imaging to evaluate cerebral atrophy is not straightforward, as prolonged scanning times are less tolerated in this population. Computed tomography (CT) scans can be obtained faster, but poor contrast resolution limits its function for morphometric analysis. We implemented an automated analysis of CT scans to characterize differences across dementia stages in a cross-sectional study of an adult DS cohort. Methods: CT scans of 98 individuals were analyzed using an automatic algorithm. Voxel-based correlations with clinical dementia stages and AD plasma biomarkers (phosphorylated tau-181 and neurofilament light chain) were identified, and their dysconnectomic patterns delineated. Results: Dementia severity was negatively correlated with gray (GM) and white matter (WM) volumes in temporal lobe regions, including parahippocampal gyri. Dysconnectome analysis revealed an association between WM loss and temporal lobe GM volume reduction. AD biomarkers were negatively associated with GM volume in hippocampal and cingulate gyri. Interpretation: Our automated algorithm and novel dysconnectomic analysis of CT scans successfully described brain morphometric differences related to AD in adults with DS, providing a new avenue for neuroimaging analysis in populations for whom magnetic resonance imaging is difficult to obtain.


TÍTULO / TITLE: - Neurovascular considerations in patients with Down syndrome and moyamoya syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Childs Nerv Syst. 2024 Jan 25. doi: 10.1007/s00381-024-06293-z. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Arevik Abramyan et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurosurgery, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

RESUMEN / SUMMARY: - In this article, we describe a rare and complex case of moyamoya syndrome in a 7-year-old boy with Down syndrome and atlantoaxial subluxation. The patient presented with an ischemic stroke in the left hemisphere and cervical cord compression with increased cord edema. Diagnostic digital subtraction angiography revealed unique patterns of vascular involvement, with retrograde flow through the anterior spinal artery, ascending cervical artery, occipital artery, and multiple leptomeningeal arteries compensating for bilateral vertebral artery occlusion. This case underscores the underreported phenomenon of upward retrograde flow through the anterior spinal artery in bilateral vertebral artery occlusion. We address the rare manifestation of posterior circulation involvement in moyamoya syndrome, highlighting the importance of considering atlantoaxial instability as a contributing factor, as the absence of atlantoaxial stability is a risk factor for vertebral artery dissection. This study contributes valuable insights into the intricate relationship of moyamoya syndrome, Down syndrome, and atlantoaxial instability, urging clinicians to consider multifaceted approaches in diagnosis and treatment. It also emphasizes the potential significance of the anterior spinal artery as a compensatory pathway in complex vascular scenarios.


TÍTULO / TITLE: - Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort

Enlace al Resumen

REVISTA / JOURNAL: - Pediatr Neurol. 2024 Jan:150:3-9. doi: 10.1016/j.pediatrneurol.2023.09.017. Epub 2023 Oct 5.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Wafa Bouchaala et al.

INSTITUCIÓN / INSTITUTION: - Child Neurology Department, Hedi Chaker Sfax University Hospital, Sfax, Tunisia; Search Laboratory "Neuropediatrie" LR19ES15 Sfax University, Sfax, Tunisia.

RESUMEN / SUMMARY: - Background: Moyamoya angiopathy is a rare cerebral vasculopathy and an underdiagnosed cause of arterial ischemic stroke in children. We aim to report the clinical and radiological presentations in a Tunisian pediatric cohort. Methods: We identified moyamoya angiopathy in pediatric patients managed at the Child Neurology Department of Hedi Chaker Sfax University Hospital between 2008 and 2020 and reviewed their clinical and radiological data as well as their evolutionary profile. Results: We collected 14 patients with median age 40.6 months and a female predominance (sex ratio of 0.75). An arterial ischemic stroke (AIS) revealed the disease in all patients, with the major symptom being a motor deficit. Symptoms related to a transient ischemic attack before the diagnostic consultation were reported in four patients. Carotid territory was, clinically and radiologically, the most frequently involved. Brain magnetic resonance imaging with angiography was performed in 12 patients confirming the diagnosis by revealing the development of collateral vessels. All the investigations concluded to moyamoya disease in 57.2% and moyamoya syndrome in 42.8%. The latter was related to Down syndrome in five patients and neurofibromatosis type 1 in one patient. With a mean follow-up of 2.35 years, two patients had at least two more AISs during the first two years following diagnosis and 42.8% of patients were diagnosed with vascular or poststroke epilepsy. Full recovery was noted in 14.3% of cases. Conclusions: Moyamoya angiopathy in children is a serious condition that needs to be recognized due to the high risk of recurrent ischemic strokes.


TÍTULO / TITLE: - Enhancing Speech Rehabilitation in a Young Adult with Trisomy 21: Integrating Transcranial Direct Current Stimulation (tDCS) with Rapid Syllable Transition Training for Apraxia of Speech

Enlace al Resumen

REVISTA / JOURNAL: - Brain Sci. 2024 Jan 6;14(1):58. doi: 10.3390/brainsci14010058.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Ester Miyuki Nakamura-Palacios et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiological Sciences, Federal University of Espírito Santo, Vitória 29040-090, ES, Brazil.

RESUMEN / SUMMARY: - Apraxia of speech is a persistent speech motor disorder that affects speech intelligibility. Studies on speech motor disorders with transcranial Direct Current Stimulation (tDCS) have been mostly directed toward examining post-stroke aphasia. Only a few tDCS studies have focused on apraxia of speech or childhood apraxia of speech (CAS), and no study has investigated individuals with CAS and Trisomy 21 (T21, Down syndrome). This N-of-1 randomized trial examined the effects of tDCS combined with a motor learning task in developmental apraxia of speech co-existing with T21 (ReBEC RBR-5435x9). The accuracy of speech sound production of nonsense words (NSWs) during Rapid Syllable Transition Training (ReST) over 10 sessions of anodal tDCS (1.5 mA, 25 cm) over Broca s area with the cathode over the contralateral region was compared to 10 sessions of sham-tDCS and four control sessions in a 20-year-old male individual with T21 presenting moderate-severe childhood apraxia of speech (CAS). The accuracy for NSW production progressively improved (gain of 40%) under tDCS (sham-tDCS and control sessions showed < 20% gain). A decrease in speech severity from moderate-severe to mild-moderate indicated transfer effects in speech production. Speech accuracy under tDCS was correlated with Wernicke s area activation (P3 current source density), which in turn was correlated with the activation of the left supramarginal gyrus and the Sylvian parietal-temporal junction. Repetitive bihemispheric tDCS paired with ReST may have facilitated speech sound acquisition in a young adult with T21 and CAS, possibly through activating brain regions required for phonological working memory.


TÍTULO / TITLE: - Purified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Seizure. 2024 Jan 15:115:94-99. doi: 10.1016/j.seizure.2024.01.010. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Gabriela Reyes Valenzuela et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Hospital de Pediatría Juan P Garrahan, Combate de los Pozos, Buenos Aires 1881 Argentina.

RESUMEN / SUMMARY: - Objective: The aim of this study was to assess efficacy, safety, and tolerability of highly purified cannabidiol oil (CBD) as add-on therapy for the treatment of a series of patients with infantile epileptic spasms syndrome (IESS) who were resistant to antiseizure medications and ketogenic dietary therapy. Material and methods: We conducted a retrospective analysis of the medical records of 28 infants with treatment-resistant IESS aged 6 to 21 months who received highly purified CBD between July 2021 and June 2023. Data were collected on neurological examinations, EEG, Video-EEG and polygraphic recordings, imaging studies, laboratory testing, and seizure frequency, type, and duration, and adverse effects. As the primary outcome, a reduction of frequency of epileptic spasms (ES) was assessed. ES freedom was considered after a minimal time of 1 month without ES. Results: Sixteen male and 12 female patients, aged 6-21 months, who received CBD for treatment-resistant IESS were included. The etiology was structural in 10, Down syndrome in seven, genetic in nine, and unknown in two. Initial CBD dose was 2 mg/kg/day, which was uptitrated to a median dose of 25 mg/kg/day (range, 2-50). Prior to CBD initiation, patients had a median of 69 ES in clusters per day (range, 41-75) and of 10 focal seizures per week (range, 7-13). After a mean and median follow-up of 15 and 12.5 months (range, 6-26 months), seven patients were ES free and 12 had a >50 % ES reduction. Five of seven patients (71 %) with Down syndrome and 3/5 (60 %) with cerebral palsy responded well. Adverse effects were mild. EEG improvements correlated with ES reductions. Conclusion: In this study evaluating the use of CBD in children with IESS, 19/28 (67.8 %) had a more than 50 % ES reduction with good tolerability.


Ophtalmology - Oftalmología

TÍTULO / TITLE: - Characterization of autoimmune eye disease in association with Down s syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Eye (Lond). 2024 Feb;38(2):386-392. doi: 10.1038/s41433-023-02706-6. Epub 2023 Aug 19.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Amr M Zaki et al

INSTITUCIÓN / INSTITUTION: - Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.

RESUMEN / SUMMARY: - Background: Autoimmunity and deficiency of the transcription factor autoimmune regulator protein (AIRE) are known associations with Down syndrome (DS). Lack of AIRE abrogates thymic tolerance. The autoimmune eye disease associated with DS has not been characterized. We identified a series of subjects with DS (n = 8) and uveitis. In three consecutive subjects, we tested the hypothesis that autoimmunity to retinal antigens might be a contributing factor. Subjects/methods: This was a multicentred, retrospective case series. Deidentified clinical data of subjects with both DS and uveitis were collected via questionnaire by uveitis-trained ophthalmologists. Anti-retinal autoantibodies (AAbs) were detected using an Autoimmune Retinopathy Panel tested in the OHSU Ocular Immunology Laboratory. Results: We characterized eight subjects (mean age 29 [range, 19-37] years). The mean age of detected uveitis onset was 23.5 [range, 11-33] years. All eight subjects had bilateral uveitis (p < 0.001 based on comparison to published university referral patterns), with anterior and intermediate uveitis found in six and five subjects respectively. Each of three subjects tested for anti-retinal AAbs was positive. Detected AAbs included anti-carbonic anhydrase II, anti-enolase, anti-arrestin, and anti-aldolase. Discussion: A partial deficiency in the AIRE on chromosome 21 has been described in DS. The similarities in the uveitis presentations within this patient group, the known autoimmune disease predisposition in DS, the recognized association of DS and AIRE deficiency, the reported detection of anti-retinal antibodies in patients with DS in general, and the presence of anti-retinal AAbs in three subjects in our series supports a causal association between DS and autoimmune eye disease.


TÍTULO / TITLE: - Ocular Cyclopentolate: A Mini Review Concerning Its Benefits and Risks

Enlace al Resumen

REVISTA / JOURNAL: - Clin Ophthalmol. 2022 Nov 15:16:3753-3762. doi: 10.2147/OPTH.S388982. eCollection 2022.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Homero Contreras-Salinas et al.

INSTITUCIÓN / INSTITUTION: - Pharmacovigilance Department, Laboratorios Sophia, S.A. de C.V, Zapopan, Jalisco, México

RESUMEN / SUMMARY: - Cycloplegic and mydriatic agents are essential in ophthalmological clinical practice since they provide the means for diagnosing and treating certain eye conditions. In addition, cyclopentolate has proven to possess certain benefits compared to other available cycloplegics and mydriatics. Still, the incidence of some adverse drug reactions related to this drug, especially in susceptible patients, has created interest in reviewing the literature about the benefits and risks of using cyclopentolate. A literature search was conducted in Medline/PubMed and Google Scholar, focusing on identifying cyclopentolate s benefits and risks; the most important benefit was its usefulness for evaluating refractive errors, especially for hyperopic children, pseudomyopia, anterior uveitis, treatment of childhood myopia, idiopathic vision loss, and during examinations before refractive surgery, with particular advantages compared to other cycloplegics. While the risks were divided into local adverse drug reactions such as burning sensation, photophobia, hyperemia, punctate keratitis, synechiae, and blurred vision, which are relatively frequent but mild and temporary; and systemic adverse drug reactions such as language problems, visual or tactile hallucinations and ataxia, but unlike ocular, systemic adverse drug reactions are rare and occur mainly in patients with risk factors. In addition, six cases of abuse were found. The treatment with cyclopentolate is effective and safe in most cases; nevertheless, special care must be taken due to the potential severe ADRs that may occur, especially in susceptible patients like children, geriatrics, patients with neurological disorders or Down s syndrome, patients with a low blood level of pseudocholinesterase, users of substances with CNS effects, and patients with a history of drug addiction. The recommendations are avoiding the use of 2% cyclopentolate and instead employing solutions with lower concentrations, preferably with another mydria


Physiotherapy - Fisioterapia

TÍTULO / TITLE: - Dynamic gait stability in children with and without Down syndrome during overground walking

Enlace al Resumen

REVISTA / JOURNAL: - Clin Biomech (Bristol, Avon). 2024 Jan:111:106163. doi: 10.1016/j.clinbiomech.2023.106163. Epub 202

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Matthew Beerse et al.

INSTITUCIÓN / INSTITUTION: - Department of Health and Sport Science, University of Dayton, Dayton, OH, USA.

RESUMEN / SUMMARY: - Background: Challenging children with Down syndrome to walk fast and with external ankle load has demonstrated acute adjustments, such as increased step length and decreased step width, and improved joint stability. However, it is unknown to what extent these task constraints affect gait stability. Assessing dynamic gait stability through margin-of-stability not only quantifies adjustments related to balance control, but also informs safety considerations. Methods: Twenty-four children with and without Down syndrome participated in this study. Subjects walked overground at two speed conditions: self-selected (normal) and as fast as possible (fast); and two ankle load conditions: no load and ankle load of 2% body mass. We assessed margin-of-stability in the anteroposterior and mediolateral directions, separately, at three gait events of toe-off, mid-swing, and heel strike. Findings: Children with Down syndrome walked with greater mediolateral margin-of-stability than typically developing children. Children with Down syndrome demonstrated less anteroposterior margin-of-stability than typically developing children only before heel-strike at normal speed but increased anteroposterior margin-of-stability at fast speed. The ankle load increased the mediolateral margin-of-stability in both groups but did not impact the anteroposterior margin-of-stability. In addition, children with Down syndrome took shorter and wider steps for more lateral placement of mediolateral margin-of-stability. Interpretation: Children with Down syndrome were capable of adjusting their margin-of-stability for fast walking and ankle-load conditions. However, children with Down syndrome walked with less mediolateral stability and anteroposterior mobility than typically developing children. Children with Down syndrome overcompensate the mediolateral foot placement to recapture their margin-of-stability and maintain gait stability.


TÍTULO / TITLE: - Impact of Prescribed Exercise on the Physical and Cognitive Health of Adults with Down Syndrome: The MinDSets Study

Enlace al Resumen

REVISTA / JOURNAL: - Int. J. Environ. Res. Public Health 2023, 20(23), 7121;

Enlace a la Editora de la Revista https://doi.org/10.3390/ijerph20237121

AUTORES / AUTHORS: - Viviane Merzbach et al.

INSTITUCIÓN / INSTITUTION: - Cambridge Centre for Sport & Exercise Sciences, Anglia Ruskin University, Cambridge CB1 1PT, UK

RESUMEN / SUMMARY: - The duplication of chromosome 21, as evidenced in Down Syndrome (DS), has been linked to contraindications to health, such as chronotropic and respiratory incompetence, neuromuscular conditions, and impaired cognitive functioning. The purpose of this study was to examine the effects of eight weeks of prescribed exercise and/or cognitive training on the physical and cognitive health of adults with DS. Eighty-three participants (age 27.1 ± 8.0 years) across five continents participated. Physical fitness was assessed using a modified version of the six-minute walk test (6MWT), while cognitive and executive functions were assessed using the Corsi block test, the Sustained-Attention-To-Response Task (SART), and the Stroop task (STROOP). All were completed pre- and post-intervention. Participants were assigned to eight weeks of either exercise (EXE), 3 × 30 min of walking/jogging per week, cognitive training (COG) 6 × ~20 min per week, a combined group (COM), and a control group (CON) engaging in no intervention. 6MWT distance increased by 11.4% for EXE and 9.9% for COM (p < 0.05). For SART, there were positive significant interactions between the number of correct and incorrect responses from pre- to post-intervention when participants were asked to refrain from a response (NO-GO-trials) across all experimental groups (p < 0.05). There were positive significant interactions in the number of correct, incorrect, and timeout incompatible responses for STROOP in EXE, COG, and COM (p < 0.05). Walking generated a cognitive load attributed to heightened levels of vigilance and decision-making, suggesting that exercise should be adopted within the DS community to promote physical and cognitive well-being.


TÍTULO / TITLE: - Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study

Enlace al Resumen

REVISTA / JOURNAL: - J Intellect Disabil Res. 2024 Jan 6. doi: 10.1111/jir.13118. Online ahead of print

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - B H 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: - Background: Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups. Method: This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) standing, and (E) walking, running, and jumping. Differences between groups were tested using the Mann-Whitney test, and the relationship between the variables was examined using Spearman s correlation tests, with a significance level set at 5%. Results: Children with DS showed greater difficulties with sensory processing than TD children in Seeker (P < 0.001), Avoider (P < 0.001), Sensitivity (P < 0.001), Registration (P < 0.001), Auditory (P < 0.001), Touch (P = 0.001), Movements (P = 0.001), Oral (P = 0.028), Conduct (P = 0.005), Socioemotional (P < 0.001), and Attentional (P < 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, standing (P < 0.001) and walking, running, and jumping (P < 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in walking, running, and jumping for the DS group. Conclusion: Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. The


TÍTULO / TITLE: - The physical and psychosocial impact of a school-based running programme for adolescents with disabilities

Enlace al Resumen

REVISTA / JOURNAL: - J Intellect Disabil Res. 2024 Feb;68(2):181-192. doi: 10.1111/jir.13104. Epub 2023 Nov 20.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - J Campagna et al.

INSTITUCIÓN / INSTITUTION: - Student, Lebanon Valley College, Annville, PA, USA

RESUMEN / SUMMARY: - Background: Adolescents with disabilities have fewer opportunities to participate in community-based fitness programmes. The purpose of this study was to examine the impact of a school-based running programme at a local middle school in Lebanon, Pennsylvania, on fitness and quality of life (QoL) in children with physical and cognitive disabilities in a life-skills classroom. Methods: Nineteen adolescents with diagnosed disabilities including intellectual disability (ID), autism spectrum disorder and Down syndrome were recruited from three life-skills classrooms to participate in a school-based running programme. The programme was designed to be implemented two times/week for 6 weeks by classroom teachers/aides. Physical therapy faculty and students developed the programme and assisted with implementation. Each session lasted 30 min, consisting of a warm-up and cooldown, relay races, games and timed runs. Pre- and post-test measures included physiological cost index (PCI) and Paediatric Quality of Life Inventory™ (PedsQL™). Pre- and post-test data were compared using Wilcoxon signed rank tests. Each week participants also completed a training log to reflect on the activity for the day. Results: Participants demonstrated significant improvements in PCI (P = 0.028) and the PedsQL™ (P = 0.008) following the running programme. Conclusions: Results of this study suggest that participation in a 6-week school-based running programme may improve fitness and QoL in adolescents with disabilities.


Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE: - Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for Down syndrome: preliminary results of an observational study on fresh s

Enlace al Resumen

REVISTA / JOURNAL: - Clin Chem. 2004 Jan;50(1):182-9. doi: 10.1373/clinchem.2003.023986.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Glenn E Palomaki et al.

INSTITUCIÓN / INSTITUTION: - Foundation for Blood Research, PO Box 190, Scarborough, ME 04070-0190, USA.

RESUMEN / SUMMARY: - Background: Down syndrome screening is commonly performed in the US using maternal age and three or four second-trimester maternal serum markers that can identify up to 75% of affected pregnancies by offering diagnostic studies to 5% of women. Invasive trophoblast antigen [ITA; hyperglycosylated human chorionic gonadotropin (hCG)] is a promising marker that can be measured in urine or serum in the first or second trimester. We report preliminary results for urinary ITA in an ongoing observational study. Methods: Women undergoing second-trimester amniocentesis for reasons not associated with biochemical testing provided consent and a urine (and possibly serum) sample that was tested within a few days. Demographic and pregnancy-related information was collected, along with karyotype. Screening performance was modeled for ITA alone and in combination with serum markers Results: Twelve recruitment centers collected urine from 2055 women with singleton pregnancies between 15 and 20 weeks of gestation (2023 unaffected, 28 Down syndrome, and 4 pregnancies with other chromosome abnormalities). After correction for gestational age, urine concentration, and maternal race and weight, the ITA measurements were higher in women with a Down syndrome pregnancy (median ITA, 4.33 multiples of the median). At a 75% detection rate, the false-positive rate could be reduced by substituting ITA for hCG measurements (from 5.6% to 2.6% for the triple test) or by adding ITA measurements to existing combinations (from 3.3% to 2.0% for the quadruple test). Conclusions: Our data provide preliminary confirmation of the potential usefulness of urinary ITA measurements in detecting Down syndrome in a setting that simulates routine usage.


TÍTULO / TITLE: - Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR

Enlace al Resumen

REVISTA / JOURNAL: - Sci Rep. 2023 Dec 22;13(1):22948. doi: 10.1038/s41598-023-50330-x.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Soňa Lakov et al

INSTITUCIÓN / INSTITUTION: - Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic

RESUMEN / SUMMARY: - Non-invasive prenatal tests for the detection of fetal aneuploidies are predominantly based on the analysis of cell-free DNA (cfDNA) from the plasma of pregnant women by next-generation sequencing. The development of alternative tests for routine genetic laboratories is therefore desirable. Multiplex digital droplet PCR was used to detect 16 amplicons from chromosome 21 and 16 amplicons from chromosome 18 as the reference. Two fluorescently labeled lock nucleic acid probes were used for the detection of reaction products. The required accuracy was achieved by examining 12 chips from each patient using Stilla technology. The plasma cfDNA of 26 pregnant women with euploid pregnancies and 16 plasma samples from pregnancies with trisomy 21 were analyzed to determine the cutoff value for sample classification. The test was validated in a blind study on 30 plasma samples from pregnant patients with a risk for trisomy 21 ranging from 1:4 to 1:801. The results were in complete agreement with the results of the invasive diagnostic procedure (sensitivity, specificity, PPV, and NPV of 100%). Low cost, and speed of analysis make it a potential screening method for implementation into the clinical workflow to support the combined biochemical and ultrasound results indicating a high risk for trisomy 21.


TÍTULO / TITLE: - Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies

Enlace al Resumen

REVISTA / JOURNAL: - J Obstet Gynaecol. 2023 Dec;43(2):2288226. doi: 10.1080/01443615.2023.2288226. Epub 2023 Dec 6.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Feng Suo et al

INSTITUCIÓN / INSTITUTION: - Center for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.

RESUMEN / SUMMARY: - Background: Non-invasive prenatal testing (NIPT) has been widely adopted as an approach for foetal aneuploidy screening. This study was to evaluate the performance of NIPT for foetal T21 detection in subgroups of pregnancies and the correlation between Z-score and discordant positive predictive values (PPVs). Methods: We retrospectively reviewed the NIPT results among 22361 pregnancies undergoing combined second-trimester screening (cSTS) previously. Sixty-four cases with positive NIPT results for foetal T21 were validated by invasive prenatal diagnosis. Results: In pregnancies with cSTS-T21 low-, intermediate-, and high-risk, the PPVs at NIPT were 14.3%, 64.3%, and 86.4%, respectively. Mean Z-scores of positive NIPT cases with cSTS-T21 high- and intermediate-risk were comparable, while were higher than that of cases with pre-test low-risk. Furthermore, PPVs for positive NIPT cases at 3 < Z < 5, 5 ≤ Z < 9, and Z ≥ 9 were 16.7%, 63.2%, and 100.0%, respectively. Conclusions: This study suggested that Z-score value of positive cases might be associated with discordant PPVs for T21 screening in subgroups of pregnancies


TÍTULO / TITLE: - Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy

Enlace al Resumen

REVISTA / JOURNAL: - BMC Pregnancy Childbirth. 2024 Jan 2;24(1):2. doi: 10.1186/s12884-023-06185-1.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Xiao-Xi Zhao, Le Le Bai

INSTITUCIÓN / INSTITUTION: - Department of Gynecology and Obstetrics, Affiliate Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010050, China.

RESUMEN / SUMMARY: - Background: This study aimed to assess whether maternal telomere length is a more accurate predictor of trisomy 21 than maternal age while also exploring the factors influencing maternal and fetal telomere length. Methods: Forty mothers with fetuses carrying extra maternal copies of chromosome 21 were defined as trisomy 21 cases, and 18 mothers with normal karyotype fetuses were defined as controls. Telomere lengths of maternal blood lymphocytes and amniotic fluid cells were determined using real-time polymerase chain reaction. Fetal and maternal telomere lengths were compared between the two groups. Moreover, we analyzed the factors influencing maternal and fetal telomere length in the trisomy 21 pedigree. A logistic regression model was used to analyze the correlation between maternal telomere length and trisomy 21 risk. In addition, receiver operating characteristic (ROC) curve analysis was used to determine the accuracy of using maternal telomere length as an indicator of trisomy 21 risk. Results: The study revealed that both maternal and fetal telomere lengths were significantly shorter in trisomy 21 cases than in the controls. In the trisomy 21 group, the maternal age, occupation, and nationality showed no significant correlation with their telomere length; fetal telomere length exhibited a positive correlation with maternal telomere length. Furthermore, maternal telomere length shortening is associated with trisomy 21 (OR = 0.311; 95% CI, 0.109-0.885, P < 0.05). The results of ROC curve analysis indicated that a combined assessment of maternal age and maternal telomere length predicted fetal chromosome trisomy more effectively than a single assessment (area under the curve 0.808, 95% CI, 0.674-0.941, P < 0.001). Conclusion: Maternal age combined with maternal telomere length proved to be a superior predictor of trisomy risk. Additionally, maternal telomere length was found to influence fetal telomere length.


Psychiatry - Psiquiatría

TÍTULO / TITLE: - Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder

Enlace al Resumen

REVISTA / JOURNAL: - Am J Med Genet A. 2024 Jan 2. doi: 10.1002/ajmg.a.63524. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Jonathan D Santoro et al.

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

RESUMEN / SUMMARY: - Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders. A single-center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (p = 0.31, 95% CI: 0.80-2.00), but cardiac-related AEs specifically were more common among the DSRD group (p = 0.02, 95% CI: 1.23-17.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (p = 0.12, 95% CI: 0.34-1.13) or discontinuation of therapy (p = 0.74, 95% CI: 0.06-7.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (p = 0.03, 95% CI: 0.24-0.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions.


TÍTULO / TITLE: - Cross-sectional developmental trajectories in the adaptive functioning of children and adolescents with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Res Dev Disabil. 2024 Jan:144:104641. doi: 10.1016/j.ridd.2023.104641. Epub 2023 Dec 22.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Sara Onnivello et al

INSTITUCIÓN / INSTITUTION: - Department of Developmental Psychology and Socialization, University of Padova, Italy.

RESUMEN / SUMMARY: - Background: Persons with Down syndrome (DS) reveal adaptive functioning (AF) difficulties. Studies on AF in DS have focused mainly on describing the profile (i.e., strengths in socialization, and weaknesses in communication), while less is known about age-related differences. This study aimed to elucidate how AF changes with age in children and adolescents with DS, taking a cross-sectional developmental trajectory approach. Moreover, the contribution of both chronological age (CA) and mental age (MA) on AF development was explored. Method: This study involved 115 children and adolescents (between 3 and 16 years old) with DS. Parents were interviewed about their children s AF on communication, daily living and socialization skills. Children and adolescents with DS were assessed on their developmental level. Results: While participants standard scores on AF decreased linearly over time, their age-equivalent scores increased with linear or segmented patterns, depending on the skill considered. CA and MA were related to daily living skills and socialization to much the same degree, while MA correlated more strongly than CA with communication. Conclusion: This study contributes to the understanding of how AF develops in children and adolescents with DS, showing that CA and MA both contribute to shaping the skills involved.


TÍTULO / TITLE: - Implications of Using the BRIEF-Preschool With School-Age Children With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Am J Intellect Dev Disabil. 2024 Jan 1;129(1):41-55. doi: 10.1352/1944-7558-129.1.41.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Anna J Esbensen et al.

INSTITUCIÓN / INSTITUTION: - Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine.

RESUMEN / SUMMARY: - This study evaluated the appropriateness of scoring the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P) using age-equivalent scores generated from multiple measures of cognition and language among school-age children with Down syndrome (DS). Subscale T scores for 95 children with DS were contrasted using standard scoring on the Behavior Rating Inventory of Executive Function-Second edition (BRIEF-2; based on chronological age) to alternate scoring using the BRIEF-P (based on age-equivalent) for patterns of subscale intercorrelations, differences in mean scores, and agreement on findings from clinical cut-off scores. Results with children with DS suggested using (1) the BRIEF-P for children ages 2-5 years old, (2) the BRIEF-2 with chronological-age scoring or the BRIEF-P with age-equivalent scoring (with some caveats) for research on children ages 5-10 years old, and (3) the BRIEF-2 for children ages 11 and older.


TÍTULO / TITLE: - Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - J Autism Dev Disord. 2024 Jan;54(1):301-311. doi: 10.1007/s10803-022-05779-6. Epub 2022 Oct 31.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Laura Del Hoyo Soriano et al.

INSTITUCIÓN / INSTITUTION: - MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, USA

RESUMEN / SUMMARY: - This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS + autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS.


TÍTULO / TITLE: - Functional Analysis of Contextually Inappropriate Social Behavior in Children With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Behav Modif. 2024 Jan 18:1454455231222912. doi: 10.1177/01454455231222912. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Sally M Izquierdo et al

INSTITUCIÓN / INSTITUTION: - The Graduate Center and Queens College of the City University of New York, USA.

RESUMEN / SUMMARY: - Background: Children with Down syndrome often engage in contextually inappropriate social behavior, which researchers suggest may function to escape from difficult activities to preferred social interactions. Caregivers may reinforce the behavior, perceiving it only as evidence of the child s social strength, when, in fact, the pattern may also prevent or slow the development of critical skills. Unlike overt forms of challenging behavior, contextually inappropriate social behavior had never been subjected to experimental analysis. Aims: The purpose of the current study was to identify and demonstrate functional control of contextually inappropriate social behavior to caregiver-informed contingencies. Method and procedures: We interviewed caregivers and subjected contextually inappropriate social behavior to functional analyses for nine young children with Down syndrome. Outcomes and results: We found sensitivity to the caregiver-informed contingencies for all nine participants with strong functional control and large effect sizes for most. Conclusions and implications: Caregivers may not perceive contextually inappropriate social behavior as problematic, yet patterns of contextually inappropriate and other problem behaviors suggest decreased engagement and poor task persistence. Assessments that lead to intervention decisions may be more informative when they include questions about social topographies of behavior not typically considered as problematic. Once caregivers are aware of the pattern, they may be better prepared to intervene.


Quality of life - Calidad de vida

TÍTULO / TITLE: - The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syn

Enlace al Resumen

REVISTA / JOURNAL: - Am J Med Genet C Semin Med Genet. 2024 Jan 10:e32081. doi: 10.1002/ajmg.c.32081. Online ahead of

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Sujata Bardhan et al.

INSTITUCIÓN / INSTITUTION: - Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland, USA.

RESUMEN / SUMMARY: - The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer s disease. Due to a steady expansion in dedicated funding over its first 5 years, INCLUDE has invested $258 M in over 250 new research projects. INCLUDE also supports training initiatives to expand the number and diversity of investigators studying DS. NIH has funded an INCLUDE Data Coordinating Center that is collecting de-identified clinical information and multi-omics data from research participants for broad data sharing and secondary analyses. Through the DS-Connect® registry, INCLUDE investigators can access recruitment support. The INCLUDE Research Plan articulates research goals for the program, with an emphasis on diversity of research participants and investigators. Finally, a new Cohort Development Program is poised to increase the impact of the INCLUDE Project by recruiting a large DS cohort across the lifespan


TÍTULO / TITLE: - Impact of Physical Activity on Autonomy and Quality of Life in Individuals with Down Syndrome: A Systematic Review

Enlace al Resumen

REVISTA / JOURNAL: - Healthcare (Basel). 2024 Jan 11;12(2):181. doi: 10.3390/healthcare12020181

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Antonio Muoz-Llerena et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Education and Sports, University of Seville, 41013 Seville, Spain

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits and limitations related to intellectual functioning and the development of motor skills. People with DS tend to have lower levels of physical activity (PA) than the general population, despite its benefits for health and quality of life, which could be caused by barriers such as the lack of adapted programs or knowledge on how to adapt them. Therefore, this systematic review aimed to examine the impact of physical activity or sports programs on autonomy and quality of life in individuals with DS. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed to search four databases (Scopus, Web of Science, PubMed, and SportDiscus), adhering to the population, intervention, comparison, and outcome strategy. A total of 13 studies were selected that followed different training programs (combined training, adapted football, technology-based, pulmonary training, gymnastics and dance, water-based, and whole body vibration). Most of the interventions provided benefits for autonomy or quality of life (physical, psychological, cognitive, emotional, and social) in people with DS. In conclusion, the benefits of physical activity and sports programs adapted to people with DS are positive.


TÍTULO / TITLE: - Walking capacity and its association with quality of life among children with Down syndrome in Saudi Arabia

Enlace al Resumen

REVISTA / JOURNAL: - BMC Pediatr. 2024 Jan 19;24(1):55. doi: 10.1186/s12887-023-04519-8.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Saad A Alhammad et al.

INSTITUCIÓN / INSTITUTION: - Department of Health Rehabilitation Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh, 11433, Saudi Arabia.

RESUMEN / SUMMARY: - Background: Walking ability, which has been connected to better health and independence, is one of the daily activities that is negatively impacted by Down syndrome. Thus, the objective of this study was to examine the walking capacity and its association with the quality of life of children who have Down syndrome compared to those who do not have Down syndrome in Saudi Arabia. Methods: For this cross-sectional study, we recruited 68 Arabic-speaking children aged 6 to 12 using a convenience sampling method from August to November 2021. Children were divided into two groups: those who do not have Down syndrome (n = 38) and those who have Down syndrome (n = 30). Children in the Riyadh region of Saudi Arabia who do not have Down syndrome were chosen randomly from two schools. Children who have Down syndrome were selected from multiple associations and centers in the same region. A 6-minute walk test was used to measure the child s walking capacity. The Arabic version of the Pediatric Quality of Life Inventory scale was used to assess the child s or parent s perceptions of the child s quality of life and its physical, emotional, social, and school functioning domains. Results: The difference in the mean 6-minute walk test scores between children who have and who do not have Down syndrome was statistically significant, with a mean difference = 105.6, 95% confidence limit = 57.2-154.0, p < .0001. The linear regression analysis after adjusting for age, height, weight, and body mass index revealed that walking capacity was found to be significantly associated with the worst score on the Pediatric Quality of Life Inventory scale (β = -2.71, SE = 0.49, p < .0001) and its domains of physical, social, and school functioning (β = -2.29, SE = 0.54, p < .0001; β = -2.40, SE = 0.58; p = .001; β = -3.71, SE = 0.56, p = .002, respectively) in children who have Down syndrome, but they had better emotional functioning than children who do not have Down syndrome. Con


TÍTULO / TITLE: - The influence of food sensory properties on eating behaviours in children with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Food Res Int. 2024 Jan:175:113749. doi: 10.1016/j.foodres.2023.113749. Epub 2023 Nov 25

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Carolyn F Ross et al.

INSTITUCIÓN / INSTITUTION: - School of Food Science, Washington State University, Pullman, WA, USA

RESUMEN / SUMMARY: - Developing new food products for children is challenging, particularly in vulnerable groups including children with Down syndrome (DS). Focusing on children with DS, the aim of this study was to study the influence of parent liking on acceptance of food products by children with DS and demonstrate the influence of food sensory properties on indicators of food acceptance, food rejection, and challenging eating behaviours. Children (ages 1158 months) with DS (n = 111) participated in a home use test evaluating snack products with varying sensory properties as profiled by a trained sensory panel. Parents recorded their children s reactions to each food product; trained coders coded videos for eating behaviours. To understand the influence of each sensory modality on eating behaviour, ordered probit regression models were run. Results found a significant correlation between the parent liking and overall child disposition to the food (p < 0.05). From the regression analysis, the inclusion of all food sensory properties, including texture, flavour, taste, product shape and size, improved the percentage of variance explained in child mealtime behaviours and overall disposition over the base model (containing no sensory modalities), with texture having the largest influence. Overstuffing the mouth, a challenging eating behaviour, was most influenced by product texture (children ≥ 30 months), and product texture and size (children < 30 months). In both age groups, coughing/choking/gagging was most influenced by food texture and was associated with a product that was grainy and angular (sharp corners). In both age groups, product acceptance was associated with a product that was dissolvable, crispy, and savoury while rejection was associated with a dense, gummy and fruity product. These results suggest that a dissolvable, crispy texture, with a cheesy or buttery flavour are the sensory properties important in a desirable flavoured commercial snack product for children w


TÍTULO / TITLE: - The shame-blame complex of parents with cognitively disabled children in Italy

Enlace al Resumen

REVISTA / JOURNAL: - Sociol Health Illn. 2024 Jan 2. doi: 10.1111/1467-9566.13742. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Alice Scavarda

INSTITUCIÓN / INSTITUTION: - Università di Torino, Torino, Italy.

RESUMEN / SUMMARY: - This article aims to advance knowledge related to the concept of the shame-blame complex by analysing the accounts and experiences of parents with cognitively disabled children. It draws on 29 interviews with parents of children with Down syndrome and shadowing sessions with one family, carried out in Italy. Results show how the feeling of shame as a consequence of being associated with a disabled child is turned into blame for bad parenting. The sources of this blaming process are twofold: firstly, neoliberalism has disseminated an intensive parenting model based on the imperative of individual responsibility and risk avoidance. Secondly, ableism acts as a network of processes and beliefs that produce a particular kind of self and body as the perfect and complete human being. Participants have been held responsible for their children s condition because they avoided prenatal screening or continued a pregnancy after receiving a positive result. Consequently, parents moral culpability for their children s diversity and their social marginalisation were enhanced. Although the interviewees resist the shame of being associated with a cognitively disabled child and the blame for bad parenting, they seem unable to escape from the grips of the shame-blame complex. The latter has structural and cultural underpinnings. In an age of neoliberal-ableism , this complex is indeed a powerful weapon to erode the rights of families with cognitively disabled members.


Respiratory - Respiratorio

TÍTULO / TITLE: - Challenges and adverse events in pediatric hypoglossal nerve stimulation

Enlace al Resumen

REVISTA / JOURNAL: - Int J Pediatr Otorhinolaryngol. 2024 Jan:176:111831. doi: 10.1016/j.ijporl.2023.111831. Epub 2023 D

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Doug Chieffe et al

INSTITUCIÓN / INSTITUTION: - Massachusetts Eye and Ear Infirmary, USA.

RESUMEN / SUMMARY: - Introduction: Hypoglossal nerve stimulation was recently FDA approved for use in children with Down Syndrome and persistent obstructive sleep apnea. Although there is a robust experience in hypoglossal nerve stimulation in adults, we observed several challenges that are unique to providing this therapy to a complex pediatric population with a high rate of sensory processing disorders. We sought to review the adverse events and challenges to inform clinicians as hypoglossal nerve stimulation becomes a more accessible option for this complex population. Methods: Retrospective case series of children with Down Syndrome and persistent OSA who underwent hypoglossal nerve stimulation. Inclusion and exclusion criteria included Down Syndrome, age 10-22 years, persistent severe OSA after adenotonsillectomy (AHI>10 with <25 % central or mixed events), inability to tolerate positive airway pressure, and absence of concentric palatal collapse on sleep endoscopy. Patients were identified and their charts were reviewed. Adverse events and their subsequent management were recorded. The major outcome variable was the total number of adverse events. Results: A total of 53 patients underwent implantation of a hypoglossal nerve stimulator; 35 (66 %) patients were male and the average age at implantation was 15.1 years (standard deviation 3.0y). A total of 30 adverse events were noted, including 17 nonserious and 13 serious. The most common nonserious complications included temporary tongue discomfort, rash at the surgical site, and cellulitis. Serious complications included readmission (for cellulitis, pain, and device extrusion), reoperation (most commonly for battery depletion) and pressure ulcer formation. Conclusion: Hypoglossal nerve stimulation provides a much-needed therapy for children with DS and persistent OSA after adenotonsillectomy. Although there is a robust experience in providing this treatment to adults, many considerations must be made when adapting this technology


TÍTULO / TITLE: - Transoral robotic lingual tonsillectomy in patients with trisomy 21 and obstructive sleep apnea

Enlace al Resumen

REVISTA / JOURNAL: - Am J Otolaryngol. 2023 Nov-Dec;44(6):103981. doi: 10.1016/j.amjoto.2023.103981. Epub 2023 Jul 5.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Timothy Mikulski et al.

INSTITUCIÓN / INSTITUTION: - Tufts University School of Medicine, Boston, MA, USA.

RESUMEN / SUMMARY: -


TÍTULO / TITLE: - Long-Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Enlace al Resumen

REVISTA / JOURNAL: - Otolaryngol Head Neck Surg. 2024 Feb;170(2):595-604. doi: 10.1002/ohn.566. Epub 2023 Oct 23

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Somya Shankar et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.

RESUMEN / SUMMARY: - Objective: To better understand the long-term health implications of obstructive sleep apnea (OSA) on patients with Trisomy 21 (T21) and the role of sleep surgery as a therapeutic intervention. Study design: Retrospective large database review. Setting: The prevalence of OSA is as high as 75% in patients with T21. We sought to examine the cardiovascular, neurological, and endocrinological outcomes of patients with T21 10 years after their diagnosis of OSA. Methods: TriNetX, an electronic medical record database, was queried for health outcomes in patients with T21 after diagnosis of OSA. The group was further analyzed to identify those who underwent sleep surgery, including hypoglossal nerve stimulation, palatopharyngoplasty, or adenotonsillectomy. Results: Ten years after diagnosis, patients with OSA and T21 had a significantly higher incidence of death, myocardial infarction, cerebral infarction, heart failure, cardiac arrhythmia, ischemic heart disease, atrial fibrillation, essential hypertension, pulmonary hypertension, diabetes mellitus, and Alzheimer s disease compared to patients with T21 alone. Patients with OSA and T21 who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to patients using continuous positive airway pressure. Conclusion: Our findings suggest that patients with T21 and OSA are at higher risk of poor health outcomes, which may require closer monitoring for earlier diagnosis and management of comorbid conditions. Sleep surgery is a suitable treatment modality for mitigating the risk of adverse outcomes in this population and should be considered in patients who are eligible surgical candidates


TÍTULO / TITLE: - Pediatric Down Syndrome Upper Airway Stimulation: Patient Selection and Post-Implantation Optimization

Enlace al Resumen

REVISTA / JOURNAL: - Otolaryngol Head Neck Surg. 2024 Jan 3. doi: 10.1002/ohn.633. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Doug Chieffe et al.

INSTITUCIÓN / INSTITUTION: - Massachusetts Eye and Ear Infirmary, Boston, USA.

RESUMEN / SUMMARY: - Objective: The Food and Drug Administration recently approved upper airway stimulation (UAS) for children with Down Syndrome and persistent obstructive sleep apnea who meet certain inclusion and exclusion criteria. Although there is a robust experience with this therapy in the adult population, established protocols used in adults are not directly transferrable to a complex pediatric population. This review aims to combine the protocols from several institutions for patient selection and postimplantation optimization, including a protocol for Drug-Induced Sleep Endoscopy in children with Down Syndrome, preactivation threshold measurements, device titration, and follow-up sleep studies. Study design: Expert panel development of best Practice algorithm. Setting: Multi-institutional investigator review. Methods: An expert panel was assembled of pediatric otolaryngologists with extensive experience in hypoglossal nerve stimulation in children with Down Syndrome. Thirty statements were created during an initial drafting session. A modified Delphi method was used assess consensus among the panel. Results: After 2 rounds of Delphi surveys, 29 statements met criteria for consensus. One statement did not meet consensus. The statements were grouped into several categories to facilitate presentation. Conclusions: A standardized approach to UAS for children with Down Syndrome must take into account the unique challenges inherent to treating a complex pediatric population with a high rate of sensory processing disorders. This expert panel has met consensus on several statements that will guide clinicians as this novel therapy is adopted.


Surgery - Cirugía

TÍTULO / TITLE: - Safety and Efficacy of Surgical and Percutaneous Cardiac Interventions for Adults With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Mayo Clin Proc Innov Qual Outcomes. 2023 Dec 26;8(1):28-36. doi: 10.1016/j.mayocpiqo.2023.11.002. e

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Kaitlin Roehl et al

INSTITUCIÓN / INSTITUTION: - Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, AZ

RESUMEN / SUMMARY: - Objective: To assess risks and benefits of cardiac intervention in adults with Down syndrome (DS). Patients and methods: A retrospective review was conducted using data from a study we published in 2010. Patients aged 18 years or older with DS who underwent cardiac operation or percutaneous intervention from February 2009 through April 2022 (new cohort) were compared with patients in the previous study (January 1969 through November 2007; remote cohort) at Mayo Clinic. Results: In total, 81 adults (43 men; 38 women) with DS underwent 89 cardiac interventions (84 surgical; 5 percutaneous) at a mean age of 33 years. Twenty-six patients presented with complete atrioventricular canal defect (17%) or tetralogy of Fallot (15%). The most common adult procedures were valve interventions: mitral (31%), tricuspid (15%), and pulmonary (12%). Of pulmonary valve interventions in the new cohort, 33% were performed percutaneously. The postoperative mortality rate was low (1% total). The mean time between last operation and death was 16 years. Conclusion: Adults with DS can undergo cardiac operation and percutaneous intervention with low morbidity and mortality risk and good long-term survival.


Therapeutics - Terapéutica

TÍTULO / TITLE: - Chemical, Biochemical, Cellular, and Physiological Characterization of Leucettinib-21, a Down Syndrome and Alzheimer s Disease Drug Candidate

Enlace al Resumen

REVISTA / JOURNAL: - J Med Chem. 2023 Dec 14;66(23):15648-15670. doi: 10.1021/acs.jmedchem.3c01888. Epub 2023 Dec 5.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Mattias F Lindbe et al.,

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

RESUMEN / SUMMARY: - Leucettinibs are substituted 2-aminoimidazolin-4-ones (inspired by the marine sponge natural product Leucettamine B) developed as pharmacological inhibitors of DYRK1A (dual-specificity, tyrosine phosphorylation-regulated kinase 1A), a therapeutic target for indications such as Down syndrome and Alzheimer s disease. Leucettinib-21 was selected as a drug candidate following extensive structure/activity studies and multiparametric evaluations. We here report its physicochemical properties (X-ray powder diffraction, differential scanning calorimetry, stability, solubility, crystal structure) and drug-like profile. Leucettinib-21 s selectivity (analyzed by radiometric, fluorescence, interaction, thermal shift, residence time assays) reveals DYRK1A as the first target but also some "off-targets" which may contribute to the drug s biological effects. Leucettinib-21 was cocrystallized with CLK1 and modeled in the DYRK1A structure. Leucettinib-21 inhibits DYRK1A in cells (demonstrated by direct catalytic activity and phosphorylation levels of Thr286-cyclin D1 or Thr212-Tau). Leucettinib-21 corrects memory disorders in the Down syndrome mouse model Ts65Dn and is now entering safety/tolerance phase 1 clinical trials.


TÍTULO / TITLE: - Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder

Enlace al Resumen

REVISTA / JOURNAL: - Am J Med Genet A. 2024 Jan 2. doi: 10.1002/ajmg.a.63524. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Jonathan D Santoro et al

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

RESUMEN / SUMMARY: - Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders. A single-center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (p = 0.31, 95% CI: 0.80-2.00), but cardiac-related AEs specifically were more common among the DSRD group (p = 0.02, 95% CI: 1.23-17.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (p = 0.12, 95% CI: 0.34-1.13) or discontinuation of therapy (p = 0.74, 95% CI: 0.06-7.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (p = 0.03, 95% CI: 0.24-0.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions.


TÍTULO / TITLE: - Ocular Cyclopentolate: A Mini Review Concerning Its Benefits and Risks

Enlace al Resumen

REVISTA / JOURNAL: - Clin Ophthalmol. 2022 Nov 15:16:3753-3762. doi: 10.2147/OPTH.S388982. eCollection 2022

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Homero Contreras-Salinas et al.

INSTITUCIÓN / INSTITUTION: - Pharmacovigilance Department, Laboratorios Sophia, S.A. de C.V, Zapopan, Jalisco, México

RESUMEN / SUMMARY: - Cycloplegic and mydriatic agents are essential in ophthalmological clinical practice since they provide the means for diagnosing and treating certain eye conditions. In addition, cyclopentolate has proven to possess certain benefits compared to other available cycloplegics and mydriatics. Still, the incidence of some adverse drug reactions related to this drug, especially in susceptible patients, has created interest in reviewing the literature about the benefits and risks of using cyclopentolate. A literature search was conducted in Medline/PubMed and Google Scholar, focusing on identifying cyclopentolate s benefits and risks; the most important benefit was its usefulness for evaluating refractive errors, especially for hyperopic children, pseudomyopia, anterior uveitis, treatment of childhood myopia, idiopathic vision loss, and during examinations before refractive surgery, with particular advantages compared to other cycloplegics. While the risks were divided into local adverse drug reactions such as burning sensation, photophobia, hyperemia, punctate keratitis, synechiae, and blurred vision, which are relatively frequent but mild and temporary; and systemic adverse drug reactions such as language problems, visual or tactile hallucinations and ataxia, but unlike ocular, systemic adverse drug reactions are rare and occur mainly in patients with risk factors. In addition, six cases of abuse were found. The treatment with cyclopentolate is effective and safe in most cases; nevertheless, special care must be taken due to the potential severe ADRs that may occur, especially in susceptible patients like children, geriatrics, patients with neurological disorders or Down s syndrome, patients with a low blood level of pseudocholinesterase, users of substances with CNS effects, and patients with a history of drug addiction. The recommendations are avoiding the use of 2% cyclopentolate and instead employing solutions with lower concentrations, preferably with another mydria


TÍTULO / TITLE: - EGCG-like non-competitive inhibitor of DYRK1A rescues cognitive defect in a down syndrome model

Enlace al Resumen

REVISTA / JOURNAL: - Eur J Med Chem. 2024 Feb 5:265:116098. doi: 10.1016/j.ejmech.2023.116098. Epub 2024 Jan 1.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Jean M Delabar et al.

INSTITUCIÓN / INSTITUTION: - Paris Brain Institute (ICM), Centre National de la Recherche Scientifique (CNRS) UMR 7225, INSERM U1127, Sorbonne Universite, Hopital de la Pitie-Salpetriere, Paris, 75013, France.

RESUMEN / SUMMARY: - Overexpression of the chromosome 21 DYRK1A gene induces morphological defects and cognitive impairments in individuals with Down syndrome (DS) and in DS mice models. Aging neurons of specific brain regions of patients with Alzheimer s disease, DS and Pick s disease have increased DYRK1A immunoreactivity suggesting a possible association of DYRK1A with neurofibrillary tangle pathology. Epigallocatechin-3-gallate (EGCG) displays appreciable inhibition of DYRK1A activity and, contrary to all other published inhibitors, EGCG is a non-competitive inhibitor of DYRK1A. Prenatal exposure to green tea polyphenols containing EGCG protects from brain defects induced by overexpression of DYRK1A. In order to produce more robust and possibly more active analogues of the natural compound EGCG, here we synthetized new EGCG-like molecules with several structural modifications to the EGCG skeleton. We replaced the ester boun of EGCG with a more resistant amide bond. We also replaced the oxygen ring by a methylene group. And finally, we positioned a nitrogen atom within this ring. The selected compound was shown to maintain the non-competitive property of EGCG and to correct biochemical and behavioral defects present in a DS mouse model. In addition it showed high stability and specificity.


TÍTULO / TITLE: - Purified cannabidiol as add-on therapy in children with treatment-resistant infantile epileptic spasms syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Seizure. 2024 Jan 15:115:94-99. doi: 10.1016/j.seizure.2024.01.010. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Gabriela Reyes Valenzuela et al

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Hospital de Pediatría Juan P Garrahan, Combate de los Pozos, Buenos Aires 1881 Argentina.

RESUMEN / SUMMARY: - Objective: The aim of this study was to assess efficacy, safety, and tolerability of highly purified cannabidiol oil (CBD) as add-on therapy for the treatment of a series of patients with infantile epileptic spasms syndrome (IESS) who were resistant to antiseizure medications and ketogenic dietary therapy. Material and methods: We conducted a retrospective analysis of the medical records of 28 infants with treatment-resistant IESS aged 6 to 21 months who received highly purified CBD between July 2021 and June 2023. Data were collected on neurological examinations, EEG, Video-EEG and polygraphic recordings, imaging studies, laboratory testing, and seizure frequency, type, and duration, and adverse effects. As the primary outcome, a reduction of frequency of epileptic spasms (ES) was assessed. ES freedom was considered after a minimal time of 1 month without ES. Results: Sixteen male and 12 female patients, aged 6-21 months, who received CBD for treatment-resistant IESS were included. The etiology was structural in 10, Down syndrome in seven, genetic in nine, and unknown in two. Initial CBD dose was 2 mg/kg/day, which was uptitrated to a median dose of 25 mg/kg/day (range, 2-50). Prior to CBD initiation, patients had a median of 69 ES in clusters per day (range, 41-75) and of 10 focal seizures per week (range, 7-13). After a mean and median follow-up of 15 and 12.5 months (range, 6-26 months), seven patients were ES free and 12 had a >50 % ES reduction. Five of seven patients (71 %) with Down syndrome and 3/5 (60 %) with cerebral palsy responded well. Adverse effects were mild. EEG improvements correlated with ES reductions. Conclusion: In this study evaluating the use of CBD in children with IESS, 19/28 (67.8 %) had a more than 50 % ES reduction with good tolerability.


Education - Educación

TÍTULO / TITLE: - Impact of Physical Activity on Autonomy and Quality of Life in Individuals with Down Syndrome: A Systematic Review

Enlace al Resumen

REVISTA / JOURNAL: - Healthcare (Basel). 2024 Jan 11;12(2):181. doi: 10.3390/healthcare12020181.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Antonio Muoz-Llerena et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Education and Sports, University of Seville, 41013 Seville, Spain

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic alteration in humans, resulting from the trisomy of chromosome 21. Individuals with DS are characterized by physical traits and limitations related to intellectual functioning and the development of motor skills. People with DS tend to have lower levels of physical activity (PA) than the general population, despite its benefits for health and quality of life, which could be caused by barriers such as the lack of adapted programs or knowledge on how to adapt them. Therefore, this systematic review aimed to examine the impact of physical activity or sports programs on autonomy and quality of life in individuals with DS. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed to search four databases (Scopus, Web of Science, PubMed, and SportDiscus), adhering to the population, intervention, comparison, and outcome strategy. A total of 13 studies were selected that followed different training programs (combined training, adapted football, technology-based, pulmonary training, gymnastics and dance, water-based, and whole body vibration). Most of the interventions provided benefits for autonomy or quality of life (physical, psychological, cognitive, emotional, and social) in people with DS. In conclusion, the benefits of physical activity and sports programs adapted to people with DS are positive.


TÍTULO / TITLE: - Cross-sectional developmental trajectories in the adaptive functioning of children and adolescents with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Res Dev Disabil. 2024 Jan:144:104641. doi: 10.1016/j.ridd.2023.104641. Epub 2023 Dec 22.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Sara Onnivello et al

INSTITUCIÓN / INSTITUTION: - Department of Developmental Psychology and Socialization, University of Padova, Italy

RESUMEN / SUMMARY: - Background: Persons with Down syndrome (DS) reveal adaptive functioning (AF) difficulties. Studies on AF in DS have focused mainly on describing the profile (i.e., strengths in socialization, and weaknesses in communication), while less is known about age-related differences. This study aimed to elucidate how AF changes with age in children and adolescents with DS, taking a cross-sectional developmental trajectory approach. Moreover, the contribution of both chronological age (CA) and mental age (MA) on AF development was explored. Method: This study involved 115 children and adolescents (between 3 and 16 years old) with DS. Parents were interviewed about their children s AF on communication, daily living and socialization skills. Children and adolescents with DS were assessed on their developmental level. Results: While participants standard scores on AF decreased linearly over time, their age-equivalent scores increased with linear or segmented patterns, depending on the skill considered. CA and MA were related to daily living skills and socialization to much the same degree, while MA correlated more strongly than CA with communication. Conclusion: This study contributes to the understanding of how AF develops in children and adolescents with DS, showing that CA and MA both contribute to shaping the skills involved.


TÍTULO / TITLE: - Implications of Using the BRIEF-Preschool With School-Age Children With Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Am J Intellect Dev Disabil. 2024 Jan 1;129(1):41-55. doi: 10.1352/1944-7558-129.1.41.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Anna J Esbensen et al.

INSTITUCIÓN / INSTITUTION: - Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine

RESUMEN / SUMMARY: - This study evaluated the appropriateness of scoring the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P) using age-equivalent scores generated from multiple measures of cognition and language among school-age children with Down syndrome (DS). Subscale T scores for 95 children with DS were contrasted using standard scoring on the Behavior Rating Inventory of Executive Function-Second edition (BRIEF-2; based on chronological age) to alternate scoring using the BRIEF-P (based on age-equivalent) for patterns of subscale intercorrelations, differences in mean scores, and agreement on findings from clinical cut-off scores. Results with children with DS suggested using (1) the BRIEF-P for children ages 2-5 years old, (2) the BRIEF-2 with chronological-age scoring or the BRIEF-P with age-equivalent scoring (with some caveats) for research on children ages 5-10 years old, and (3) the BRIEF-2 for children ages 11 and older.


TÍTULO / TITLE: - Impact of Prescribed Exercise on the Physical and Cognitive Health of Adults with Down Syndrome: The MinDSets Study

Enlace al Resumen

REVISTA / JOURNAL: - Int. J. Environ. Res. Public Health 2023, 20(23), 7121

Enlace a la Editora de la Revista https://doi.org/10.3390/ijerph20237121

AUTORES / AUTHORS: - Viviane Merzbach et al.

INSTITUCIÓN / INSTITUTION: - Cambridge Centre for Sport & Exercise Sciences, Anglia Ruskin University, Cambridge CB1 1PT, UK

RESUMEN / SUMMARY: - The duplication of chromosome 21, as evidenced in Down Syndrome (DS), has been linked to contraindications to health, such as chronotropic and respiratory incompetence, neuromuscular conditions, and impaired cognitive functioning. The purpose of this study was to examine the effects of eight weeks of prescribed exercise and/or cognitive training on the physical and cognitive health of adults with DS. Eighty-three participants (age 27.1 ± 8.0 years) across five continents participated. Physical fitness was assessed using a modified version of the six-minute walk test (6MWT), while cognitive and executive functions were assessed using the Corsi block test, the Sustained-Attention-To-Response Task (SART), and the Stroop task (STROOP). All were completed pre- and post-intervention. Participants were assigned to eight weeks of either exercise (EXE), 3 × 30 min of walking/jogging per week, cognitive training (COG) 6 × ~20 min per week, a combined group (COM), and a control group (CON) engaging in no intervention. 6MWT distance increased by 11.4% for EXE and 9.9% for COM (p < 0.05). For SART, there were positive significant interactions between the number of correct and incorrect responses from pre- to post-intervention when participants were asked to refrain from a response (NO-GO-trials) across all experimental groups (p < 0.05). There were positive significant interactions in the number of correct, incorrect, and timeout incompatible responses for STROOP in EXE, COG, and COM (p < 0.05). Walking generated a cognitive load attributed to heightened levels of vigilance and decision-making, suggesting that exercise should be adopted within the DS community to promote physical and cognitive well-being.


TÍTULO / TITLE: - Effects of Cognitive Orientation to Daily Occupational Performance and Conductive Education Treatment Approaches on Fine Motor Skills, Activity and Participation Limitations in Children with Down Synd

Enlace al Resumen

REVISTA / JOURNAL: - J Autism Dev Disord. 2024 Jan;54(1):168-181. doi: 10.1007/s10803-022-05781-y. Epub 2022 Nov 2.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Hulya Ozbeşer et al

INSTITUCIÓN / INSTITUTION: - Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Cyprus International University, Via Mersin 10, 99258, Lefkosa, Turkey

RESUMEN / SUMMARY: - : This study aiming to compare the effectiveness of Cognitive Orientation to Daily Occupational Performance (CO-OP) and Conductive Education (CE) approaches on motor skills, activity limitation and participation restrictions in children with Down Syndrome (DS). Twelwe children were randomly assigned into two groups. Twelve-week CO-OP or CE intervention (period-1) followed by a 12-week washout period. Same interventions were crossed over for another 12 weeks (period-2). The Performance Quality Rating Scale (PQRS), Canadian Occupational Performance Measure (COPM) and the Bruininks Oseretsky Test of Motor Proficiency Second Edition-Brief Form (BOT2-BF) were used for outcome measurements. CO-OP was effective in the improvement of task-specific activity performance, while both approaches have similar effects on the improvement of perceived performance, satisfaction, and motor skills performance.


TÍTULO / TITLE: - Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study

Enlace al Resumen

REVISTA / JOURNAL: - J Intellect Disabil Res. 2024 Jan 6. doi: 10.1111/jir.13118. Online ahead of print.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - B H 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: - Background: Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups. Method: This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) standing, and (E) walking, running, and jumping. Differences between groups were tested using the Mann-Whitney test, and the relationship between the variables was examined using Spearman s correlation tests, with a significance level set at 5%. Results: Children with DS showed greater difficulties with sensory processing than TD children in Seeker (P < 0.001), Avoider (P < 0.001), Sensitivity (P < 0.001), Registration (P < 0.001), Auditory (P < 0.001), Touch (P = 0.001), Movements (P = 0.001), Oral (P = 0.028), Conduct (P = 0.005), Socioemotional (P < 0.001), and Attentional (P < 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, standing (P < 0.001) and walking, running, and jumping (P < 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in walking, running, and jumping for the DS group. Conclusion: Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. The


TÍTULO / TITLE: - The physical and psychosocial impact of a school-based running programme for adolescents with disabilities

Enlace al Resumen

REVISTA / JOURNAL: - J Intellect Disabil Res. 2024 Feb;68(2):181-192. doi: 10.1111/jir.13104. Epub 2023 Nov 20.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - J Campagna et al.

INSTITUCIÓN / INSTITUTION: - Student, Lebanon Valley College, Annville, PA, USA.

RESUMEN / SUMMARY: - Background: Adolescents with disabilities have fewer opportunities to participate in community-based fitness programmes. The purpose of this study was to examine the impact of a school-based running programme at a local middle school in Lebanon, Pennsylvania, on fitness and quality of life (QoL) in children with physical and cognitive disabilities in a life-skills classroom. Methods: Nineteen adolescents with diagnosed disabilities including intellectual disability (ID), autism spectrum disorder and Down syndrome were recruited from three life-skills classrooms to participate in a school-based running programme. The programme was designed to be implemented two times/week for 6 weeks by classroom teachers/aides. Physical therapy faculty and students developed the programme and assisted with implementation. Each session lasted 30 min, consisting of a warm-up and cooldown, relay races, games and timed runs. Pre- and post-test measures included physiological cost index (PCI) and Paediatric Quality of Life Inventory™ (PedsQL™). Pre- and post-test data were compared using Wilcoxon signed rank tests. Each week participants also completed a training log to reflect on the activity for the day. Results: Participants demonstrated significant improvements in PCI (P = 0.028) and the PedsQL™ (P = 0.008) following the running programme. Conclusions: Results of this study suggest that participation in a 6-week school-based running programme may improve fitness and QoL in adolescents with disabilities.


TÍTULO / TITLE: - Views of Parents on Supporting Language and Literacy for Their Children With Complex Communication Needs

Enlace al Resumen

REVISTA / JOURNAL: - Lang Speech Hear Serv Sch. 2024 Jan 11;55(1):69-84. doi: 10.1044/2023_LSHSS-23-00009. Epub 2023 Oct

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Emma L Leroux et al.

INSTITUCIÓN / INSTITUTION: - Department of Special Education, Vanderbilt University, Nashville, TN.

RESUMEN / SUMMARY: - Purpose: Understanding students home literacy environments can help speech-language pathologists, teachers, and other educators partner with families to promote language and literacy learning. This study focused on gaining insight into the views of parents of elementary-age students with intellectual and developmental disabilities who had complex communication needs related to supporting children s language and literacy learning in the home. Method: This qualitative study was conducted during the COVID-19 pandemic, when many schools were utilizing remote or hybrid learning arrangements. Participants were 37 parents of students with complex communication needs in kindergarten to fourth grade. Most children had either autism or Down syndrome, and they ranged from primarily communicating prelinguistically (e.g., gestures and nonword vocalizations) to using some two to three word phrases in different modes (e.g., speech, sign, and aided augmentative and alternative communication [AAC]). Each parent was interviewed three times over the 2020-2021 school year, and data were analyzed using an inductive qualitative approach. Results: Findings showed patterns of commonalities and differences in parents experiences, including related to their (a) goals and values about communication, language, and literacy; (b) perceptions and experiences with roles supporting language and literacy; and (c) satisfaction with supports and progress in these areas. Conclusion: This study provides important insight into the views of parents related to home literacy that can be used to improve the design and delivery of interventions for school-age students with complex communication needs and their families.


TÍTULO / TITLE: - Enhancing Speech Rehabilitation in a Young Adult with Trisomy 21: Integrating Transcranial Direct Current Stimulation (tDCS) with Rapid Syllable Transition Training for Apraxia of Speech

Enlace al Resumen

REVISTA / JOURNAL: - Brain Sci. 2024 Jan 6;14(1):58. doi: 10.3390/brainsci14010058.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Ester Miyuki Nakamura-Palacios et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiological Sciences, Federal University of Espírito Santo, Vitória 29040-090, ES, Brazil.

RESUMEN / SUMMARY: - Apraxia of speech is a persistent speech motor disorder that affects speech intelligibility. Studies on speech motor disorders with transcranial Direct Current Stimulation (tDCS) have been mostly directed toward examining post-stroke aphasia. Only a few tDCS studies have focused on apraxia of speech or childhood apraxia of speech (CAS), and no study has investigated individuals with CAS and Trisomy 21 (T21, Down syndrome). This N-of-1 randomized trial examined the effects of tDCS combined with a motor learning task in developmental apraxia of speech co-existing with T21 (ReBEC RBR-5435x9). The accuracy of speech sound production of nonsense words (NSWs) during Rapid Syllable Transition Training (ReST) over 10 sessions of anodal tDCS (1.5 mA, 25 cm) over Broca s area with the cathode over the contralateral region was compared to 10 sessions of sham-tDCS and four control sessions in a 20-year-old male individual with T21 presenting moderate-severe childhood apraxia of speech (CAS). The accuracy for NSW production progressively improved (gain of 40%) under tDCS (sham-tDCS and control sessions showed < 20% gain). A decrease in speech severity from moderate-severe to mild-moderate indicated transfer effects in speech production. Speech accuracy under tDCS was correlated with Wernicke s area activation (P3 current source density), which in turn was correlated with the activation of the left supramarginal gyrus and the Sylvian parietal-temporal junction. Repetitive bihemispheric tDCS paired with ReST may have facilitated speech sound acquisition in a young adult with T21 and CAS, possibly through activating brain regions required for phonological working memory.


TÍTULO / TITLE: - Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability

Enlace al Resumen

REVISTA / JOURNAL: - Res Sq. 2024 Jan 8:rs.3.rs-3684708. doi: 10.21203/rs.3.rs-3684708/v1. Preprint Free PMC article

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Andrew Dakopolos et al.

INSTITUCIÓN / INSTITUTION: -

RESUMEN / SUMMARY: - Background. Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living (DSM-5). Individuals with IDD often present with an intellectual disability in addition to a developmental disability such as autism or Down syndrome. Those with IDD may present with deficits in intellectual functioning as well as adaptive functioning that interfere with independence and living skills. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two-year period. Methods. Eligible participants for this multisite longitudinal study included those who were between 6 and 26 years at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID. Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid, Crystallized, Composite) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). Results. Over a two-year period, change in cognition (both Crystalized and Composite) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. Conclusions. The present study demonstrated that developmental improvements in cognition and adaptive behavior are associated in children and youn


TÍTULO / TITLE: - Editorial: Speech, language, and literacy development in individuals with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front Psychol. 2024 Jan 4:14:1346494. Free PMC article

Enlace a la Editora de la Revista https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10794319/

AUTORES / AUTHORS: - Sue Buckley et al.

INSTITUCIÓN / INSTITUTION: - Down Syndrome Education International, Kirkby Lonsdale, United Kingdom.

RESUMEN / SUMMARY: - The ease and speed with which many children develop spoken language belies the complex processes that underpin it. Further, speech and language are fundamentally important for learning, thinking, reasoning, and remembering, as well as for communicating and fully participating in the social world. Mastering a written language is equally important and inextricably linked to spoken language, with each influencing progress in the other (Ellis and Large, 1988). Speech and language difficulties are common, and often persistent and severe, for individuals with Down syndrome, potentially impacting all aspects of cognitive and social development. This Research Topic contributes to our understanding of speech, language, and literacy development in individuals with Down syndrome and of effective interventions for this population.


TÍTULO / TITLE: - A biophysiological framework exploring factors affecting speech and swallowing in clinical populations: focus on individuals with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 21 June 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1085779/full

AUTORES / AUTHORS: - Aarthi Madhavan, Larissa Lam, Nicole M. Etter, Krista M. Wilkinson

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

RESUMEN / SUMMARY: - Speech and swallowing are complex sensorimotor behaviors accomplished using shared vocal tract anatomy. Efficient swallowing and accurate speech require a coordinated interplay between multiple streams of sensory feedback and skilled motor behaviors. Due to the shared anatomy, speech and swallowing are often both impacted in individuals with various neurogenic and developmental diseases, disorders, or injuries. In this review paper, we present an integrated biophysiological framework for modeling how sensory and motor changes alter functional oropharyngeal behaviors of speech and swallowing, as well as the potential downstream effects to the related areas of language and literacy. We discuss this framework with specific reference to individuals with Down syndrome (DS). Individuals with DS experience known craniofacial anomalies that impact their oropharyngeal somatosensation and skilled motor output for functional oral-pharyngeal activities such as speech and swallowing. Given the increased risk of dysphagia and “silent” aspiration in individuals with DS, it is likely somatosensory deficits are present as well. The purpose of this paper is to review the functional impact of structural and sensory alterations on skilled orofacial behaviors in DS as well as related skills in language and literacy development. We briefly discuss how the basis of this framework can be used to direct future research studies in swallowing, speech, and language and be applied to other clinical populations.


TÍTULO / TITLE: - Stuttering in individuals with Down syndrome: a systematic review of earlier research

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 29 November 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1176743/full

AUTORES / AUTHORS: - Silje Hokstad, Kari-Anne B. Naess

INSTITUCIÓN / INSTITUTION: - Department of Education, Lillehammer, Inland Norway University of Applied Sciences, Lillehammer, Norway

RESUMEN / SUMMARY: - The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and thus contribute knowledge about stuttering in this population. Group studies reporting outcome measures of stuttering were included. Studies with participants who were preselected based on their fluency status were excluded. We searched the Eric, PsychInfo, Medline, Scopus, and Web of Science Core Collection databases on 3rd January 2022 and conducted supplementary searches of the reference lists of previous reviews and the studies included in the current review, as well as relevant speech and language journals. The included studies were coded in terms of information concerning sample characteristics, measurement approaches, and stuttering-related outcomes. The appraisal tool for cross-sectional studies (AXIS) was used to evaluate study quality. We identified 14 eligible studies, with a total of 1,833 participants (mean = 131.29, standard deviation = 227.85, median = 45.5) between 3 and 58 years of age. The estimated occurrence of stuttering ranged from 2.38 to 56%, which is substantially higher than the estimated prevalence (1%) of stuttering in the general population. The results also showed that stuttering severity most often was judged to be mild-to-moderate and that individuals with Down syndrome displayed secondary behaviors when these were measured. However, little attention has been paid to investigating the potential adverse effects of stuttering for individuals with Down syndrome. We judged the quality of the evidence to be moderate-to-low. The negative evaluation was mostly due to sampling limitations that decreased the representability and generalizability of the results. Based on the high occurrence of stuttering and the potential negative effects of this condition, individuals with Down syndrome who show signs of stuttering should be referred to a


TÍTULO / TITLE: - Joint engagement and early language abilities in young children with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 28 April 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1152559/full

AUTORES / AUTHORS: - Laura J. Mattie, Daniela Fanta

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Science, University of Illinois at Urbana-Champaign, Champaign, IL, United States

RESUMEN / SUMMARY: - Introduction: Early social strengths likely serve as a foundation for language acquisition for young children with Down syndrome (DS). One way to characterize early social skills is to examine a child s engagement with a caregiver around an object of interest. The current study examines joint engagement in young children with DS and its relation to language abilities at two-time points in early development. Methods: Participants were 16 young children with DS and their mothers. At two time points, mother–child free plays were completed and coded for joint engagement. Language abilities were measured at both time points using the Vineland Adaptive Behavior Scales 3rd edition and the number of words understood and produced on the MacArthur-Bates Communication Development Inventory. Results: Young children with DS spent more time in supported joint engagement than coordinated joint engagement at both time points. Using a weighted joint engagement variable, children with DS who had higher weighted joint engagement had lower expressive language raw scores on the Vineland when controlling for age at Time 1. At Time 2, children with DS who had higher weighted joint engagement had higher expressive and receptive language raw scores on the Vineland when controlling for age. Predictively, children with DS who had a higher weighted joint engagement at Time 1 had a lower number of words produced at Time 2 when controlling for age at Time 1. Discussion: Our results suggest that young children with DS may compensate for their difficulties with language by using joint engagement. These results highlight the importance of teaching parents to be responsive during interactions with their child to move them into both supported and coordinated engagement, which in turn may foster language development.


TÍTULO / TITLE: - Home-literacy environments and language development in toddlers with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 29 June 2023 Volume 14 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1143369/full

AUTORES / AUTHORS: - Madison S. Dulin et al.

INSTITUCIÓN / INSTITUTION: - Department of Communication Sciences and Disorders, University of Mississippi, University, MS, United States

RESUMEN / SUMMARY: - Introduction: The present study aimed to (1) characterize the home-literacy environments (HLE) of toddlers with Down syndrome (DS) and (2) examine if richness of the HLE, child engagement during shared storybook reading activities, quality of a caregiver-child shared storybook reading activity, and exposure to language in the home environment predicted child receptive vocabulary concurrently (Time 1) and 6 months later (Time 2). Methods: Participants were toddlers with DS (n = 13 at Time 1, 11–29 months of age; n = 10 at Time 2) and their mothers. Mothers completed a Home Literacy Environment Questionnaire at Time 1, which was used to characterize the HLE and to calculate two composite variables: richness of the HLE and child engagement in shared storybook reading. Also at Time 1, the home language environment was measured using adult word count from the LENA Recorder DLP©. The LENA was also used to audio-record and capture the quality of a caregiver-child storybook reading task in the child s home using the book Dear Zoo. At both time points, mothers completed the MacArthur-Bates Communicative Development Inventories, and the number of words understood variable was used to measure receptive vocabulary. Results/Discussion: Results indicated that toddlers with DS experience rich HLEs and interactive shared storybook reading encounters with their mothers. A multiple linear regression revealed that child engagement and the home language environment correlated with both toddlers concurrent and later receptive vocabularies, while the richness of the HLE and the shared storybook reading task emerged as moderate predictors of receptive vocabulary 6 months later.


TÍTULO / TITLE: - Shared book reading as a context for language intervention for children with Down syndrome: a mini-review

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 05 May 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1176218/full

AUTORES / AUTHORS: - Mirjana Jeremic et al

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, University of Reading, Reading, United Kingdom

RESUMEN / SUMMARY: - Acquiring language and communication skills is one of the biggest challenges for children with Down syndrome (DS). However, few evidence-based interventions exist to enhance the development of language and communication in this population. Shared book reading (SBR) is well-established as an effective intervention for language and communication development of typically developing children, and evidence of the possible effectiveness of this approach for those at risk of language difficulties is emerging. This paper provides a mini-review of the existing evidence for SBR in relation to language and communication outcomes for young children with DS. A systematic literature search was conducted with the following inclusion criteria: children with DS aged 0–6;11 years, SBR, language or communication outcomes. The results show that interventions which incorporate SBR strategies are associated with improved language and communication outcomes for young children with DS, improved parental sensitivity, and continuing implementation of SBR strategies following intervention instruction. However, evidence is limited in scope, of low quality, including mostly single case studies, with only one study having a control group. We conclude that although SBR may hold promise as a possible intervention, further research is essential to establish what specific components of SBR intervention are most effective for young children with DS and what further adaptations are needed to accommodate the cognitive profile and variability within this population


TÍTULO / TITLE: - Parent-implemented augmented communication intervention and young children with Down syndrome: an exploratory report

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 13 June 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1168599/full

AUTORES / AUTHORS: - MaryAnn Romski et al.

INSTITUCIÓN / INSTITUTION: - Departments of Communication and Psychology, Georgia State University, Atlanta, GA, United States

RESUMEN / SUMMARY: - Introduction: Young children with Down syndrome (DS) present with speech and language impairments very early in childhood. Historically, early language intervention for children with DS included manual signs, though recently there has been an interest in the use of speech-generating devices (SGDs). This paper examines the language and communication performance of young children with DS who participated in parent-implemented communication interventions that included SGDs. Specifically, we compared the functional vocabulary usage and communication interaction skills of children with DS who received augmented communication interventions (AC) that included an SGD with those children with DS who received spoken communication intervention (SC). Methods: Twenty-nine children with DS participated in this secondary data analysis. These children were part of one of two longitudinal RCT studies investigating the effectiveness of parent-implemented augmented communication interventions in a larger sample of 109 children with severe communication and language impairments. Results: There were significant differences between children with DS in the AC and SC groups in terms of the number and proportion of functional vocabulary targets used and the total vocabulary targets provided during the intervention at sessions 18 (lab)and 24 (home). Discussion: Overall, the AC interventions provided the children with a way to communicate via an SGD with visual-graphic symbols and speech output, while the children in the SC intervention were focused on producing spoken words. The AC interventions did not hinder the children s spoken vocabulary development. Augmented communication intervention can facilitate the communication abilities of young children with DS as they are emerging spoken communicators.


TÍTULO / TITLE: -

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 21 June 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1118659/full

AUTORES / AUTHORS: - Bernadette Witecy et al.

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation and Special Education, University of Cologne, Cologne, Germany

RESUMEN / SUMMARY: - Introduction: The present study provides longitudinal data on the development of receptive and expressive grammar in children and adolescents with Down syndrome and addresses the role of nonverbal cognitive abilities and verbal short-term memory for morphosyntactic development. Method: Seventeen German-speaking individuals with Down syndrome (aged 4;6–17;1 years at first testing (T1)) were assessed twice, 4;4–6;6 years apart. For a subset of five participants, there was also a third assessment 2 years after the second. Receptive grammar, nonverbal cognition, and verbal short-term memory were tested using standardized measures. For expressive grammar, elicitation tasks were used to assess the production of subject-verb agreement and of wh-questions. Results: At group level, the participants showed a significant increase in grammar comprehension from T1 to T2. However, progress diminished with increasing chronological age. Notable growth could not be observed beyond the age of 10 years. With respect to expressive grammatical abilities, progress was limited to those participants who had mastered verbal agreement inflection around age 10 years. Individuals who did not master verbal agreement by late childhood achieved no progress in producing wh-questions, either. There was an increase in nonverbal cognitive abilities in the majority of participants. Results for verbal short-term memory followed a similar pattern as those for grammar comprehension. Finally, neither nonverbal cognition nor verbal short-term memory were related to changes in receptive or expressive grammar. Discussion: The results point to a slowdown in the acquisition of receptive grammar which starts before the teenage years. For expressive grammar, improvement in wh-question production only occurred in individuals with good performance in subject-verb agreement marking, which suggests that the latter might have a trigger function for further grammatical development in German-speaking individuals with


TÍTULO / TITLE: - Narrative abilities in individuals with Down syndrome: single case-profiles

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 03 October 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1116567/full

AUTORES / AUTHORS: - Isabel Neitzel

INSTITUCIÓN / INSTITUTION: - Research Unit of Language and Communication, Department of Rehabilitation Sciences, TU Dortmund University, Dortmund, Germany

RESUMEN / SUMMARY: - Introduction: Narrative abilities are an important part of our everyday lives and social interaction with others. Nevertheless, narration is a complex ability influenced by language and cognition. This makes it difficult for individuals with language and cognitive impairment, such as in children and adolescents with Down syndrome. Previous studies have shown distinct narrative impairments in individuals with Down syndrome; nevertheless, this research was based on overall group means in most cases. To identify individual strengths and weaknesses and to draw conclusions for speech and language therapy, the narrative profile of every participant should be considered equally. Following this approach, the current study aims to describe single case narrative profiles in individuals with Down syndrome. Methods: The narrative transcripts of 28 children and adolescents with Down syndrome (aged 10;0–20;1), based on a non-verbal picture book, were rated using the Narrative Scoring Scheme across seven macro- and microstructural categories. Point scores across the whole group are displayed – nevertheless, the paper specifically addresses the individual narrative profiles of the participants. The participants could be assigned to narrative profile groups which show different characteristics, strengths and weaknesses. Group comparisons and correlations were computed for the relation to language abilities (especially vocabulary) and nonverbal cognitive abilities. Results: The results of the two profile groups with minimal and developing narrative skills differ significantly not only concerning narrative outcomes in the Narrative Scoring Scheme but also for language abilities and developmental stage of nonverbal cognition. Individuals that show floor effects in narrative abilities are characterized by an overall weakness in language and cognition. In contrast, a group of approximately equal size shows distinct strengths in their narrative profiles which are in line with their vocabu


TÍTULO / TITLE: - Talkitt: toward a new instrument based on artificial intelligence for augmentative and alternative communication in children with down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 06 June 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1176683/full

AUTORES / AUTHORS: - Floriana Costanzo et al.

INSTITUCIÓN / INSTITUTION: - Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children s Hospital, IRCCS, Rome, Italy

RESUMEN / SUMMARY: - Introduction: Individuals with Down syndrome (DS) often exhibit a severe speech impairment, with important consequences on language intelligibility. For these cases, the use of Augmentative Alternative Communication instruments, that increase an individual s communication abilities, becomes crucial. Talkitt is a mobile application created by Voiceitt Company, exploiting speech recognition technology and artificial intelligence models to translate in real-time unintelligible sounds into clear words, allowing individuals with language production impairment to verbally communicate in real-time. Methods: The study evaluated the usability and satisfaction related to the Talkitt application use, as well as effects on adapted behavior and communication, of participants with DS. A final number of 23 individuals with DS, aged 5.54 to 28.9 years, participated in this study and completed 6 months of training. The application was trained to consistently recognize at least 20 different unintelligible words (e.g., nouns and/or short phrases)/person. Results: Results revealed good usability and high levels of satisfaction related to the application use. Moreover, we registered improvement in linguistic abilities, particularly naming. Discussion: These results paves the road for a potential role of Talkitt application as a supportive and rehabilitative tool for DS.


TÍTULO / TITLE: - The impact of COVID-19 (Coronavirus) on children and young people with Down syndrome in the United Kingdom

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 02 June 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1175636/full

AUTORES / AUTHORS: - Emma Pagnamenta et al

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, University of Reading, Reading, United Kingdom

RESUMEN / SUMMARY: - The COVID-19 pandemic had a profound impact across the globe. Evidence suggests children with Special Educational Needs and Disabilities and their families experienced impacts on well-being and disruptions in support from education and health services. This study investigated the impact of measures associated with the COVID-19 pandemic on children and young people (CYP) with Down syndrome in the United Kingdom, specifically changes in speech, language and communication abilities, behavior, social, emotional and mental health and access to education and healthcare services. Forty-six parents/carers of CYP with Down Syndrome (aged 2–25 years) completed an online survey between June and September 2020. Parents/carers frequently reported deterioration in speech, language and communication, literacy and attention skills since the onset of the pandemic. Deterioration in social and emotional wellbeing and behavior, including greater reliance on adults were also reported for some CYP with Down syndrome. Parents reported challenges with home-schooling and reductions in support from education and community services. Preferences for support during COVID-19 were for professional support or from other parents. These findings have implications for the support that is now needed for CYP with Down syndrome and their families and for periods of social restrictions in the future.


TÍTULO / TITLE: - Using the Social Skills Improvement System (SSiS) Rating Scales to assess social skills in youth with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 04 April 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1105520/full

AUTORES / AUTHORS: - Marie Moore Channell et al.

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Science, University of Illinois Urbana-Champaign, Champaign, IL, United States

RESUMEN / SUMMARY: - Introduction and Methods: This study provides preliminary data on the Social Skills Improvement System (SSiS) Rating Scales Parent Form to measure social skills in a sample of 124 children and adolescents with Down syndrome (DS) ages 6–17 years. Results: Overall, participants demonstrated relatively mild symptoms, with the sample s average standard score falling within 1 standard deviation from the mean of the normative sample for the social skills (M = 92, SD = 15) and problem behaviors (M = 104, SD = 12) domains (normative sample M = 100, SD = 15 for both domains). However, a wide range of scores was observed across the sample for the composite and subscale scores. Differential patterns were also observed by subscale. For some subscales (i.e., Cooperation, Assertion, Responsibility, Engagement, Externalizing, Hyperactivity/Inattention, and Autism Spectrum), a disproportionate number of participants scored in the below average (i.e., lower levels of social skills) or above average (i.e., more symptomatic in problem behaviors or autism spectrum) range relative to the normative sample; for other subscales (i.e., Communication, Empathy, Self-Control, Bullying, and Internalizing), participants score distribution aligned more closely to that of the normative sample. SSiS composite scores correlated in the expected directions with standardized measures of autism characteristics, executive function, and expressive language. Discussion: This study provides some of the first evidence validating the use of the SSiS in youth with DS, filling a gap in standardized measures of social functioning in this population.


TÍTULO / TITLE: - Study of a set of reading precursors among Chilean children with Down syndrome

Enlace al Resumen

REVISTA / JOURNAL: - Front. Psychol., 06 February 2023 Volume 14 - 2023

Enlace a la Editora de la Revista https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1090710/full

AUTORES / AUTHORS: - Paulina S. Arango et al.

INSTITUCIÓN / INSTITUTION: - Millennium Institute for Care Research (MICARE), Santiago, Chile

RESUMEN / SUMMARY: - Learning to read for children with Down syndrome is relevant because of the impact this ability has on learning and the development of autonomy. Previous research has described reading development in this population, but it is not clear if the process and precursors are the same in a transparent language like Spanish. This study explores performance in a set of precursors (phonological awareness, visual recognition, vocabulary, letter knowledge and verbal reasoning) in 42 children with Down syndrome between 6:0 and 10:11 years. We hypothesized that the participants would have a lower performance than previously reported with children with typical development, particularly in tasks of phonological awareness, because the method for reading instruction in Chile with this population is usually the global method. Our results show that the precursors improve with age, that there are differences in performance between the skills assessed, and the ceiling effect was not observed as would be expected for children with typical development for the abilities assessed at these ages, which suggests that in the children assessed the precursors are not consolidated at these ages. These results suggest that the stimulation of phonological awareness and other reading precursors in children with Down syndrome is important for reading development.


TÍTULO / TITLE: - The co-construction of a reading assessment measure with adults with Down syndrome: a meaningful literacy approach

Enlace al Resumen

REVISTA / JOURNAL: - https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1173300/full

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Pauline Frizelle et al.

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Sciences, University College Cork, Cork, Ireland

RESUMEN / SUMMARY: - Introduction: The need to develop appropriate measures of broad-based reading-related literacy skills for adults with Down syndrome has been highlighted in the literature. In this study we aimed to co-construct a valid and reliable assessment measure that can be used to document meaningful everyday reading, in adolescents and adults with Down syndrome. Methods: The study was carried out in two stages. Stage 1 used an inclusive participatory design in which individuals with Down syndrome were research collaborators (n = 46). Items to be included in the measure were identified and ecological, face and content validity were established through an iterative process. In stage 2 we examined the reliability of the tool and explored potential relationships between meaningful reading score and (1) age, (2) receptive vocabulary, and (3) reading ability as measured by standardized assessments. In addition, we profiled what a pilot cohort of adults with Down syndrome read (n = 33) and how they experience reading in their everyday lives. Results: Results showed that 46 items were generated for inclusion in the Meaningful Reading Measure (MRM). Our preliminary data showed that the tool has internal and external reliability and ecological and content validity. There were no associations between meaningful reading score and any of the other variables examined. There was considerable variability in items read (range 12–44) which reflected a broad range of reading practices. Adults with Down syndrome identified the importance of reading as a pleasurable activity and as something that aids learning. Conclusion: The MRM developed here can be used (1) as a reading intervention outcome measure to complement existing standardized tools, (2) to profile meaningful reading in adults with Down syndrome, (3) to guide reading module content, and (4) to capture change in adults perceptions of themselves as readers. Future work is needed to establish the tool s sensitiv

Realizar búsqueda