Aging - Envejecimiento

TÍTULO / TITLE:   - Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimers disease: a cross-sectional study

REVISTA / JOURNAL:    - Lancet Neurol. 2023 Jan;22(1):55-65. doi: 10.1016/S1474-4422(22)00408-2.

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AUTORES / AUTHORS: - Anna H Boerwinkle et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Washington University in St Louis, St Louis, MO, USA 

RESUMEN / SUMMARY: - Background: Important insights into the early pathogenesis of Alzheimers disease can be provided by studies of autosomal dominant Alzheimers disease and Down syndrome. However, it is unclear whether the timing and spatial distribution of amyloid accumulation differs between people with autosomal dominant Alzheimers disease and those with Down syndrome. We aimed to directly compare amyloid changes between these two groups of people. Methods: In this cross-sectional study, we included participants (aged ≥25 years) with Down syndrome and sibling controls who had MRI and amyloid PET scans in the first data release (January, 2020) of the Alzheimers Biomarker Consortium-Down Syndrome (ABC-DS) study. We also included carriers of autosomal dominant Alzheimers disease genetic mutations and non-carrier familial controls who were within a similar age range to ABC-DS participants (25-73 years) and had MRI and amyloid PET scans at the time of a data freeze (December, 2020) of the Dominantly Inherited Alzheimer Network (DIAN) study. Controls from the two studies were combined into a single group. All DIAN study participants had genetic testing to determine PSEN1, PSEN2, or APP mutation status. APOE genotype was determined from blood samples. CSF samples were collected in a subset of ABC-DS and DIAN participants and the ratio of amyloid β42 (Aβ42) to Aβ40 (Aβ42/40) was measured to evaluate its Spearmans correlation with amyloid PET. Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset. We further analysed amyloid PET deposition by autosomal dominant mutation type. We also assessed regional patterns of amyloid accumulation by estimated number of years to symptom onset. Within a subset of participants the relationship between amyloid PET and CSF Aβ42/40 was evaluated. Findings: 192 individuals with Down syndrome and 33 sibling controls from the ABC-DS study and 265 carriers of autosomal domi

TÍTULO / TITLE:   - Weight Loss and Alzheimers Disease in Down Syndrome

REVISTA / JOURNAL:    - : J Alzheimers Dis. 2023;91(3):1215-1227. doi: 10.3233/JAD-220865.

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AUTORES / AUTHORS: - Victoria Fleming / Alzheimers Biomarker Consortium �Down Syndrome (ABC-DS) Consortium

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

RESUMEN / SUMMARY: - Virtually all adults with Down syndrome (DS) develop Alzheimers disease (AD) pathology, but research gaps remain in understanding early signs of AD in DS.Objective: The goal of the present study was to determine if unintentional weight loss is part of AD in DS. The specific aims were to: 1) examine relation between chronological age, weight, AD pathology, and AD-related cognitive decline were assessed in a large cohort of adults with DS, and 2) determine if baseline PET amyloid-β (Aβ) and tau PET status (-versus+) and/or decline in memory and mental status were associated with weight loss prior to AD progression. Methods: Analyses included 261 adults with DS. PET data were acquired using [11C] PiB for Aβ and [18F] AV-1451 for tau. Body mass index (BMI) was calculated from weight and height. Direct measures assessed dementia and memory. Clinical AD status was determined using a case consensus process. Percent weight decline across 16-20 months was assessed in a subset of participants (n = 77). Results: Polynomial regressions indicated an 0.23 kg/m2 decrease in BMI per year beginning at age 36.5 years, which occurs alongside the period during which Aβ and tau increase and memory and mental status decline. At a within-person level, elevated Aβ, decline in memory and mental status were associated with higher percent weight loss across 16-20 months. Conclusion: Unintentional weight loss occurs alongside Aβ deposition and prior to onset of AD dementia, and thus may be a useful sign of AD in DS.

TÍTULO / TITLE:   - Lessons from Down syndrome and autosomal dominant Alzheimers disease

REVISTA / JOURNAL:    - Lancet Neurol. 2023 Jan;22(1):5-6. doi: 10.1016/S1474-4422(22)00437-9.

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AUTORES / AUTHORS: - Juan Fortea et al

INSTITUCIÓN / INSTITUTION: - Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08025, Spain; 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - DYRK1A Inhibitors and Perspectives for the Treatment of Alzheimers Disease

REVISTA / JOURNAL:    - Curr Med Chem 2023;30(6):669-688.

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AUTORES / AUTHORS: - M�rcia Maria de Souza et al

INSTITUCIÓN / INSTITUTION: - School of Health Sciences, Graduate Program in Pharmaceutical Sciences, UNIVALI, Rua Uruguai, 458 F6 lab 206 Campus I, Centro, Itajai, SC, 88302-202, Brazil. 

RESUMEN / SUMMARY: - Background: Alzheimers disease (AD) is a chronic neurodegenerative disease and the most common form of dementia, especially in the elderly. Due to the increase in life expectancy, in recent years, there has been an excessive growth in the number of people affected by this disease, causing serious problems for health systems. In recent years, research has been intensified to find new therapeutic approaches that prevent the progression of the disease. In this sense, recent studies indicate that the dual-specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A) gene, which is located on chromosome 21q22.2 and overexpressed in Down syndrome (DS), may play a significant role in developmental brain disorders and early onset neurodegeneration, neuronal loss and dementia in DS and AD. Inhibiting DYRK1A may serve to stop the phenotypic effects of its overexpression and, therefore, is a potential treatment strategy for the prevention of age associated neurodegeneration, including Alzheimer-type pathology. Objective: In this review, we investigate the contribution of DYRK1A inhibitors as potential anti-AD agents. Methods: A search in the literature to compile an in vitro dataset including IC50 values involving DYRK1A was performed from 2014 to the present day. In addition, we carried out structure-activity relationship studies based on in vitro and in silico data. Results: molecular modeling and enzyme kinetics studies indicate that DYRK1A may contribute to AD pathology through its proteolytic process, reducing its kinase specificity. Conclusion: further evaluation of DYRK1A inhibitors may contribute to new therapeutic approaches for AD.

TÍTULO / TITLE:   - Case report: Ketogenic diet acutely improves cognitive function in patient with Down syndrome and Alzheimers disease

REVISTA / JOURNAL:    - Front Psychiatry. 2023 Jan 9;13:1085512. doi: 10.3389/fpsyt.2022.1085512. eCollection 2022. Free PM

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AUTORES / AUTHORS: - Annette Bosworth et al.

INSTITUCIÓN / INSTITUTION: - Meaningful Medicine, Tampa, FL, United States. 

RESUMEN / SUMMARY: - Ketogenic diets have a century-long history as a therapeutic tool to treat intractable epilepsy. Recently, a renewed interest in neuroketotherapeutics has arisen, with ketogenic diets being explored for the treatment of neurodegenerative diseases such as Alzheimers disease and Parkinson s disease, as well as mental health conditions. Herein, we present a case report of a 47-year-old woman with Down syndrome diagnosed with Alzheimers disease and absence seizures with accelerated cognitive decline over 6 years. A ketogenic diet restored her cognitive function over 6 weeks, with an increase in Activities of Daily Living Scale score from 34 to 58. A therapeutic ketogenic diet was associated with significant cognitive improvement in this patient with concurrent Down syndrome and dementia

TÍTULO / TITLE:   - Intranasal Administration of KYCCSRK Peptide Rescues Brain Insulin Signaling Activation and Reduces Alzheimers Disease-like Neuropathology in a Mouse Model for Down Syndrome

REVISTA / JOURNAL:    - Antioxidants (Basel). 2023 Jan 2;12(1):111. doi: 10.3390/antiox12010111.

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AUTORES / AUTHORS: - Antonella Tramutola et al

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

RESUMEN / SUMMARY: - Down syndrome (DS) is the most frequent genetic cause of intellectual disability and is strongly associated with Alzheimers disease (AD). Brain insulin resistance greatly contributes to AD development in the general population and previous studies from our group showed an early accumulation of insulin resistance markers in DS brain, already in childhood, and even before AD onset. Here we tested the effects promoted in Ts2Cje mice by the intranasal administration of the KYCCSRK peptide known to foster insulin signaling activation by directly interacting and activating the insulin receptor (IR) and the AKT protein. Therefore, the KYCCSRK peptide might represent a promising molecule to overcome insulin resistance. Our results show that KYCCSRK rescued insulin signaling activation, increased mitochondrial complexes levels (OXPHOS) and reduced oxidative stress levels in the brain of Ts2Cje mice. Moreover, we uncovered novel characteristics of the KYCCSRK peptide, including its efficacy in reducing DYRK1A (triplicated in DS) and BACE1 protein levels, which resulted in reduced AD-like neuropathology in Ts2Cje mice. Finally, the peptide elicited neuroprotective effects by ameliorating synaptic plasticity mechanisms that are altered in DS due to the imbalance between inhibitory vs. excitatory currents. Overall, our results represent a step forward in searching for new molecules useful to reduce intellectual disability and counteract AD development in DS.

Cardiology - Cardiología

TÍTULO / TITLE:   - Surgical Outcomes of Congenital Heart Disease in Down Syndrome: Tertiary Center Experience-Focus on the Electrical Conduction System

REVISTA / JOURNAL:    - Pediatr Cardiol. 2023 Jan;44(1):204-209. doi: 10.1007/s00246-022-03030-8. Epub 2022 Oct 19

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AUTORES / AUTHORS: - Mohammad A Ebrahim et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Kuwait University Faculty of Medicine, Affiliated With Chest Diseases Hospital, Block 4, Street 102, 46300, Jabriya, Kuwait. 

RESUMEN / SUMMARY: - To document outcomes of cardiac surgical repair in Down syndrome (DS) patients with specific focus on the associated electrical conduction morbidities, ultimately leading to a higher incidence of pacemaker implantation (PMI). A retrospective study conducted between 2011 and 2020. A total of 167 DS patients undergoing 204 surgeries were included. The mean gestational age (GA) and mean weight were 37.3 weeks and 5.5 kg, respectively. Complete atrioventricular septal defect (AVSD) was the most common diagnosis. Pre-operative ECG revealed superior axis deviation (SAD) in 92 and 32% of patients with AVSD and isolated perimembranous ventricular septal defect (VSD), respectively (p < 0.01). Postoperative right bundle branch block (RBBB) was observed in 83 and 55% of patients with AVSD and following perimembranous VSD repair, respectively (p = 0.04). Ten patients underwent post-operative pacemaker implantation (PMI). Reintervention rate was around 8.9%. Three mortalities were encountered throughout the study period, 2 of which were in-hospital deaths. Low mortality was observed, however, a higher rate of PMI requirements noted with risk factors including lower age and weight

TÍTULO / TITLE:   - Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus

REVISTA / JOURNAL:    - Circulation. 2023 Jan 31;147(5):425-441. doi: 10.1161/CIRCULATIONAHA.122.059706. Epub 2023 Jan 30.

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AUTORES / AUTHORS: - Konstantinos Dimopoulos � for Down Syndrome International (DSi)

INSTITUCIÓN / INSTITUTION: - Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital, Royal Brompton and Harefield Hospitals, Guy s and St Thomas NHS Foundation Trust, London, United Kingdom (K.D., A.C.). 

RESUMEN / SUMMARY: - Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the cardiovascular care of people with Down syndrome compared with the general population, which vary across different geographies and health care systems, further contribute to cardiovascular mortality; this issue is often overlooked by the wider medical community. This review focuses on the diagnosis, prevalence, and management of cardiovascular disease encountered in people with Down syndrome and summarizes available evidence in 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to disparities in care in areas of differing resource availability. All specialists and nonspecialist clinicians providing care for people with Down syndrome should be aware of best clinical practice in all aspects of care of this distinct population.

TÍTULO / TITLE:   - Heart Rate Variability in Individuals with Down Syndrome: A Scoping Review with Methodological Considerations

REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2023 Jan 4;20(2):941. doi: 10.3390/ijerph20020941

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AUTORES / AUTHORS: - Jakub S Gąsior et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, 02-091 Warsaw, Poland 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) present similar heart rate variability (HRV) parameters at rest but different responses to selected movement maneuvers in comparison to individuals without DS, which indicates reduced vagal regulation. The present study undertakes a scoping review of research on HRV in individuals with DS, with special attention paid to the compliance of the studies with standards and methodological paper guidelines for HRV assessment and interpretation. A review was performed using PubMed, Web of Science and CINAHL databases to search for English language publications from 1996 to 2020 with the MESH terms "heart rate variability" and "down syndrome", with the additional inclusion criteria of including only human participants and empirical investigations. From 74 studies, 15 were included in the review. None of the reviewed studies met the recommendations laid out by the standards and guidelines for providing the acquisition of RR intervals and necessary details on HRV analysis. Since authors publishing papers on this research topic do not adhere to the prescribed standards and guidelines when constructing the methodology, results of the research papers on the topic are not directly comparable. Authors need to design the study methodology more robustly by following the aforementioned standards, guidelines and recommendations.

Dental - Dental

TÍTULO / TITLE:   - Tooth wear prevalence in individuals with Down syndrome: a systematic review

REVISTA / JOURNAL:    - Clin Oral Investig. 2023 Jan 11. doi: 10.1007/s00784-022-04856-5. Online ahead of print.

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AUTORES / AUTHORS: - Thiago Isidro Vieira et al.

INSTITUCIÓN / INSTITUTION: - Centro de Ciências da Saúde - Térreo, Federal University of Paraíba, Campus I - Cidade Universitária, João Pessoa, 58051900, Brazil 

RESUMEN / SUMMARY: - Objectives: This systematic review investigated the prevalence of tooth wear between patients with and without Down syndrome. Methods: Six databases (Embase, LILACS, Livivo, PubMed, Scopus and Web of Science) and grey literature (Google Scholar, OpenGrey and ProQuest) were searched until March 7, 2022. Observational studies were included to assess the differences in tooth wear prevalence and/or severity in Down syndrome and non-syndromic controls. Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) recommendations were followed. Three reviewers independently screened studies, extracted data, assessed the methodological quality (Joanna Briggs Institute) and graded the certainty of evidence through the Grading of Recommendations, Assessment, Development, Evaluation (GRADE) approach. Results were summarized through meta-analyses using a random-effects model. The protocol was registered at PROSPERO (CRD42021266997). Results: Of the 1382 records identified, six cross-sectional studies were included. Individuals with Down syndrome had a higher prevalence and were more likely to have tooth wear than individuals without Down syndrome (44% × 15%; OR = 4.43; 95% CI 3.17-6.18; p < 0.00001; I2 = 8%). Also, the severity of tooth wear was higher in the Down syndrome group (n = 275) compared with the controls (n = 294). The certainty of evidence analysis was very low. Conclusions: Based on very low certainty of the evidence, patients with Down syndrome had a higher prevalence and likelihood and severity of tooth wear when compared to those without Down syndrome.

TÍTULO / TITLE:   - Lateral cephalometric characteristics in individuals with Down Syndrome compared to non-syndromic controls: a meta-analysis

REVISTA / JOURNAL:    - J Stomatol Oral Maxillofac Surg. 2023 Feb 2;101407. doi: 10.1016/j.jormas.2023.101407. Online ahead

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AUTORES / AUTHORS: - Kara Bierley, Gregory S Antonarakis

INSTITUCIÓN / INSTITUTION: - gregory.antonarakis@unige.ch 

RESUMEN / SUMMARY: - Objectives: The aim of this meta-analysis was to provide a complete synthesis of all studies involving lateral cephalometric measurements in Down Syndrome (DS) populations. Methods: A literature search was carried out using six electronic databases to identify studies comparing cephalometric characteristics between populations with DS and control (healthy) populations. Studies were selected according to the research objectives, and predefined inclusion and exclusion criteria. Only the cephalometric measurements included in three or more studies were analyzed. The random-effects meta-analysis model was used for data analysis, and all analyses were carried out using RevMan5 software. Results: From an initial 871 articles identified through the literature search, ten cross-sectional studies were finally selected based on the inclusion and exclusion criteria. Ten cephalometric measurements underwent meta-analysis, five linear and five angular measurements. Concerning the five linear measurements, namely S-N, ANS-PNS, Go-Gn, Ar-Go, and N-ANS all were significantly smaller in the DS population with the exception of Go-Gn. Of the five angular measurements, only three were statistically different between the DS and control groups. SNB and ANB angles were smaller in individuals with DS, whereas the basilar angle was larger. Subgroup analysis was also carried out based on age, and it was found that the gonial angle was significantly smaller before puberty, in individuals with DS. No differences between groups were found for the SNA angle. Conclusion: There are significant cephalometric differences between individuals with and without DS. Individuals with DS have a shorter anterior cranial base, maxillary length, upper anterior facial height and mandibular height. The ANB and SNB angles were also smaller in those with DS, but the SNA angle showed no differences. These findings may indicate that the Class III malocclusion commonly found in individuals with DS does not seem to b

TÍTULO / TITLE:   - Down syndrome and biological treatments in dermatology: Efficacy and safety in our real-life experience and review of literature

REVISTA / JOURNAL:    - Australas J Dermatol. 2023 Feb 13. doi: 10.1111/ajd.14006. Online ahead of print

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AUTORES / AUTHORS: - Vittorio Tancredi et al

INSTITUCIÓN / INSTITUTION: - Dermatology Unit, Department of Mental and Physical Health and Preventive medicine, University of Campania Luigi Vanvitelli Naples, Napoli, Italy 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common chromosomal disorder; several dermatological conditions are common in these patients; among them, psoriasis and atopic dermatitis can be frequently encountered. From 2017 to today, we retrospectively identified 4 adults and 3 under 18-year-old patients treated with biological drugs, from our research database. The first endpoint of this study was to evaluate whether the biological drugs work in these special population, and a secondary endpoint was to evaluate any loss of efficacy or any side effects during follow-up. All patients were treated with biological drugs experience resolution of their psoriasis. Mean PASI (Psoriasis Area Severity Index), BSA (Body Surface Area) and DLQI (Dermatology Life Quality Index) at baseline were 20, 16.5 and 25. At week 4, mean PASI, BSA and DLQI decreased, respectively, to 8, 6 and 12, while at week 24, mean values were, respectively, 3, 1.3 and 1. The patients that started therapy earlier, at week 52, do not have signs of recurrence and side effects. We highlighted that no official guidelines exist to approach these patients, from a literature evaluation the most employed drugs are anti-TNFα and in particular adalimumab. In our experience, the new anti-interleukin drugs seem to be well-tolerated, with no sides effect, good compliance and no loss of efficacy.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Decannulation in Trisomy 21 patients undergoing laryngotracheal reconstruction

REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2023 Jan;164:111407. doi: 10.1016/j.ijporl.2022.111407. Epub 2022 D

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AUTORES / AUTHORS: - Daniel Blumenthal et al

INSTITUCIÓN / INSTITUTION: - 1Department of Otolaryngology and Head and Neck Surgery Residency, Medstar Georgetown University Hospital, Washington, DC, USA. 

RESUMEN / SUMMARY: - Background: Down Syndrome (DS) patients are more susceptible to either congenital or acquired subglottic stenosis (SGS). This often creates a multilevel airway obstruction and can lead to tracheostomy dependence early in life. As a result, they may require Laryngotracheal Reconstruction (LTR) to achieve decannulation. The primary objective of this study was to assess decannulation rates, time to decannulation and potential barriers to decannulation in DS patients undergoing LTR. Methods: We performed a retrospective chart review from 2008 to 2021 of 193 children who underwent LTR for treatment for laryngotracheal stenosis at a stand-alone tertiary children s hospital. The relationship between clinical data and decannulation status was evaluated using multivariable logistic regression and Fisher exact tests. Time to decannulation analysis was performed using Kaplan Meier analysis and evaluated with log-rank and Cox proportional hazards regression. Results: We determined that DS patients carry an inherit risk for decannulation failure compared to the general population (OR: 6.112, P = . 044, CI 1.046-35.730). Of the 8 patients with DS only three were decannulated. Overall, patients with Trisomy 21 had a significantly increased time to decannulation when compared to all LTR patients (P = .008, Log-rank). We found that these patients are more likely to have both suprastomal collapse (P = .0004, Fischer s Exact) and Tracheomalacia (P = .034, Fischer s Exact) compared to all other LTR patients. While post-operative tracheomalacia did not significantly affect decannulation failure (P = .056, Fischer s Exact) it did significantly prolong decannulation in all LTR patients (P = .018, Log-rank). Conclusion: Trisomy 21 patients are at an increased risk for decannulation failure. Our study illustrates that these poor outcomes are likely a result of conditions more commonly found in this cohort including: narrow tracheal caliber, tracheomalacia and hypotonia.

TÍTULO / TITLE:   - Expert Consensus Statement: Management of Pediatric Persistent Obstructive Sleep Apnea After Adenotonsillectomy

REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2023 Feb;168(2):115-130. doi: 10.1002/ohn.159.

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AUTORES / AUTHORS: - Stacey L Ishman et al

INSTITUCIÓN / INSTITUTION: - University of Cincinnati College of Medicine, Cincinnati, Ohio, USA 

RESUMEN / SUMMARY: - Objective: To develop an expert consensus statement regarding persistent pediatric obstructive sleep apnea (OSA) focused on quality improvement and clarification of controversies. Persistent OSA was defined as OSA after adenotonsillectomy or OSA after tonsillectomy when adenoids are not enlarged. Methods: An expert panel of clinicians, nominated by stakeholder organizations, used the published consensus statement methodology from the American Academy of Otolaryngology-Head and Neck Surgery to develop statements for a target population of children aged 2-18 years. A medical librarian systematically searched the literature used as a basis for the clinical statements. A modified Delphi method was used to distill expert opinion and compose statements that met a standardized definition of consensus. Duplicate statements were combined prior to the final Delphi survey. Results: After 3 iterative Delphi surveys, 34 statements met the criteria for consensus, while 18 statements did not. The clinical statements were grouped into 7 categories: general, patient assessment, management of patients with obesity, medical management, drug-induced sleep endoscopy, surgical management, and postoperative care. Conclusion: The panel reached a consensus for 34 statements related to the assessment, management and postoperative care of children with persistent OSA. These statements can be used to establish care algorithms, improve clinical care, and identify areas that would benefit from future research.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Cardiometabolic profiles in children and adults with overweight and obesity and Down syndrome

REVISTA / JOURNAL:    - Am J Med Genet A. 2023 Mar;191(3):813-822. doi: 10.1002/ajmg.a.63088. Epub 2022 Dec 20.

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AUTORES / AUTHORS: - Nicolas M Oreskovic et al

INSTITUCIÓN / INSTITUTION: - Departments of Internal Medicine and Pediatrics, Massachusetts General Hospital, Massachusetts General Hospital, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals with DS were analyzed to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. Descriptive statistics and regression analyses by age categories determined the distributive percentiles for cardiometabolic biomarkers and tested for adiposity as a predictor of CR. Across seven DS clinics, data were collected on 240 patients between the ages of 3 and 63 years, with one quarter overweight and three quarters obese among children and nearly all adults being obese. In children and adults, most cardiometabolic biomarker profiles showed distributive values within normal ranges. Blood lipids were positively associated with body mass index (BMI) in children (high density lipid-cholesterol, p = 0.01; low density lipid-cholesterol, p = 0.02). Levels of hs-CRP were elevated in both children and adults, with BMI positively associated with hs-CRP in adults with DS (p = 0.04). Liver enzyme values were positively associated with BMI in children and adults. The data suggest that in contrast to the general population, in individuals with Down syndrome, being overweight and obese does not appear to confer a significantly increased risk for cardiometabolic disease by biomarker profile. Individuals with DS who are overweight/obese appear to have unique cardiometabolic profiles unrelated to adiposity, notable for increased hs-CRP and normal HA1c levels.

TÍTULO / TITLE:   - Diet Quality and Cardiometabolic Risk Factors in Adolescents with Down Syndrome

REVISTA / JOURNAL:    - J Acad Nutr Diet. 2023 Feb;123(2):253-262. doi: 10.1016/j.jand.2022.07.017. Epub 2022 Aug 5.

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AUTORES / AUTHORS: - Neha S Anand et al

INSTITUCIÓN / INSTITUTION: - Boston Combined Residency Program, Boston Children s Hospital & Boston Medical Center, Boston, Massachusetts.  

RESUMEN / SUMMARY: - Background: Youth with Down syndrome (DS) have a high prevalence of obesity and dyslipidemia. Diet quality may influence cardiometabolic risk (CMR) in youth. Objective: The aim of this secondary analysis was to investigate the relationship between diet quality (Healthy Eating Index [HEI-2015]) with CMR factors in youth with DS compared with age, sex, race, ethnicity, and body mass index percentile matched, typically developing controls. Design: Adolescents (aged 10 to 20 years) with DS and controls of comparable age, sex, race, ethnicity, and body mass index percentile were recruited from 2012 to 2017 for a cross-sectional study from two large children s hospitals (Children s Hospital of Philadelphia and the Children s National Health System in Washington, DC). Participants and setting: CMRs in 143 adolescents with DS were compared with 100 controls. Exclusion criteria consisted of major organ-system illnesses. Main outcome measures: The average of three 24-hour dietary recalls was used to calculate the HEI-2015. Anthropometrics, blood pressure, and fasting labs were collected. Statistical analyses performed: Group differences were tested using Wilcoxon rank-sum tests. Relationships of CMR factors with HEI-2015 score within DS and controls were tested using linear regression models adjusted for sex, age, race, and body mass index z score. Results: Compared with controls (n = 100, median age = 14.8 years [interquartile range = 12.2 to 17.3 years]; 41% male; 24% African American; 65% with body mass index ≥85th percentile), adolescents with DS (n = 143, median age = 14.7 years [interquartile range = 11.4 to 17.4 years]; 44% male; 18% African American; 62% with body mass index ≥85th percentile) had higher scores (more aligned with dietary recommendations) for total HEI-2015 (DS: 52.7 [interquartile range = 46.8 to 58.6] vs controls: 45.1 [interquartile range = 39.5 to 55.0]; P < 0.0001). Youth with DS also had higher HEI-2015 component scores for fruits, gre

TÍTULO / TITLE:   - Cytotoxic T-lymphocyte-associated protein 4 +49A/G polymorphism in Down syndrome children with Hashimoto s thyroiditis

REVISTA / JOURNAL:    - Biomol Biomed. 2023 Jan 30. doi: 10.17305/bb.2022.7869. Online ahead of print.

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AUTORES / AUTHORS: - Muhammad Faizi et al

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, Department of Child Health, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East Java, Indonesia. 

RESUMEN / SUMMARY: - Thyroid dysfunction is the most common endocrine disorder in Down syndrome (DS) children. Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) is one of the immune regulatory genes that correlates with Hashimoto s thyroiditis (HT). However, studies on CTLA-4 +49A/G in DS children with HT are still limited. We aimed to evaluate CTLA-4 +49A/G gene polymorphism in DS children with HT. This case-control study, conducted from February 2020 to February 2022 at Dr. Soetomo General Hospital, Surabaya, enrolled 40 DS children with HT and 50 healthy children. The DNA sequencing was performed to identify the polymorphism (Sanger sequencing). Thyroid peroxidase antibodies (TPOAb), thyroglobulin antibodies (TgAb), thyroid-stimulating hormone (TSH), and free thyroxine (FT4) levels were analyzed by enzyme-linked immunosorbent assay (ELISA). The mean age of DS children with HT was 1.78 years. Males predominated in the study population. Subjects with GG genotype were diagnosed earliest with hypothyroidism (8 months) compared with other studies. The most common thyroid dysfunction was central hypothyroidism, with TgAb positivity present in all patients. The AA genotype (odds ratio [OR] 0.265, 95% confidence interval [CI] 0.094-0.746; P = 0.012) and A allele (OR 0.472, 95% CI 0.309-0.721; P = 0.0002) were significantly more frequent in the control group. The AG genotype (OR 2.65, 95% CI 0.094-0.746; P = 0.003) and G allele (OR 2.116, 95% CI 1.386-3.23; P = 0.003) were more frequent in the DS with HT group. The age of the subjects in this study was younger than in previous studies. The AG genotype and the G allele were more prevalent in the DS with HT group and may be a risk factor in HT development in DS children. Furthermore, the AA genotype may act as a protective factor against HT in DS children.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Foregut duplication cyst associated with esophageal atresia and tracheoesophageal fistula: a case report and literature review

REVISTA / JOURNAL:    - J Pediatr Surg. 2013 May;48(5):E5-7. doi: 10.1016/j.jpedsurg.2013.02.071.

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AUTORES / AUTHORS: - J Leslie Knod et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric General and Thoracic Surgery, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC-2023, Cincinnati, Ohio 45229, USA. 

RESUMEN / SUMMARY: - A case of esophageal atresia associated with a foregut duplication cyst is reported and the literature reviewed. This is the first documented occurrence in conjunction with Down syndrome and the second case where both anomalies were treated at the initial surgery.

TÍTULO / TITLE:   - Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia

REVISTA / JOURNAL:    - Pediatr Surg Int. 2023 Jan 18;39(1):84. doi: 10.1007/s00383-022-05359-w

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AUTORES / AUTHORS: - Anna Zrinyi et al

INSTITUCIÓN / INSTITUTION: - Department of Surgery, Division of Pediatric Surgery, University of Manitoba, and Children s Hospital Research Institute of Manitoba, AE402-820 Sherbrook Street, Winnipeg, MB, R3A 1S1, Canada 

RESUMEN / SUMMARY: - Purpose: We aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA). Methods: We identified children born with DA between 1991 and 2017. Cases were divided into DA with T21 and DA without T21. Ten healthy controls per case were included. Esophageal, ulcerative, obstructive and stomach complaints were assessed. Risk ratios (RR), rate ratios (RaR) and Cox models were constructed. Analyses were performed for cases versus controls, and for T21 cases versus non-T21 cases. Results: DA cases totaled 52: 22 had T21 and 30 did not. There were 520 controls. DA cases had more gastrointestinal complaints than controls. T21 cases were at greater risk and frequency of esophageal disease than non-T21 cases (RR = 4.08, p = 0.002, RaR = 69.8, p < 0.001). T21 and non-T21 cases were equally likely to present with obstruction (RR = 0.91, p = 1), but T21 cases complained of obstructive symptoms less (RaR = 0.57, p = 0.003). T21 and non-T21 cases had the same risk of stomach diseases, but T21 cases complained more frequently (RaR = 6.20, p < 0.001). Cox models supported these observations. T21 did not affect ulcerative diseases. Conclusion: DA cases had more gastrointestinal problems than controls. T21 increased esophageal and gastric complaints in DA cases but did not affect ulcerative and obstructive complaints.

Genetics - Genética

TÍTULO / TITLE:   - Pericentrin expression in Down s syndrome

REVISTA / JOURNAL:    - Neurol Sci. 2013 Nov;34(11):2023-5. doi: 10.1007/s10072-013-1529-z. Epub 2013 Aug 27.

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AUTORES / AUTHORS: - Michele Salemi et al.

INSTITUCIÓN / INSTITUTION: - IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down s syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case-control study, PCNT gene expression was increased by 72.72% in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down syndrome.

TÍTULO / TITLE:   - Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development

REVISTA / JOURNAL:    - Elife. 2023 Jan 19;12:e78202. doi: 10.7554/eLife.78202.

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AUTORES / AUTHORS: - Cayla E Jewett et al

INSTITUCIÓN / INSTITUTION: - Department of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, United States 

RESUMEN / SUMMARY: - Trisomy 21, the genetic cause of Down syndrome, disrupts primary cilia formation and function, in part through elevated Pericentrin, a centrosome protein encoded on chromosome 21. Yet how trisomy 21 and elevated Pericentrin disrupt cilia-related molecules and pathways, and the in vivo phenotypic relevance remain unclear. Utilizing ciliogenesis time course experiments combined with light microscopy and electron tomography, we reveal that chromosome 21 polyploidy elevates Pericentrin and microtubules away from the centrosome that corral MyosinVA and EHD1, delaying ciliary membrane delivery and mother centriole uncapping essential for ciliogenesis. If given enough time, trisomy 21 cells eventually ciliate, but these ciliated cells demonstrate persistent trafficking defects that reduce transition zone protein localization and decrease sonic hedgehog signaling in direct anticorrelation with Pericentrin levels. Consistent with cultured trisomy 21 cells, a mouse model of Down syndrome with elevated Pericentrin has fewer primary cilia in cerebellar granule neuron progenitors and thinner external granular layers at P4. Our work reveals that elevated Pericentrin from trisomy 21 disrupts multiple early steps of ciliogenesis and creates persistent trafficking defects in ciliated cells. This pericentrosomal crowding mechanism results in signaling deficiencies consistent with the neurological phenotypes found in individuals with Down syndrome.

TÍTULO / TITLE:   - Mitochondrial Dysfunction in Down Syndrome: From Pathology to Therapy

REVISTA / JOURNAL:    - Neuroscience. 2023 Feb 10;511:1-12. doi: 10.1016/j.neuroscience.2022.12.003. Epub 2022 Dec 7.

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AUTORES / AUTHORS: - Kai-Leng Tan et al

INSTITUCIÓN / INSTITUTION: - Genetics and Regenerative Medicine Research Centre, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia; Department of Human Anatomy, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Se 

RESUMEN / SUMMARY: - Mitochondrial dysfunctions have been described in Down syndrome (DS) caused by either partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role in various vital functions in eukaryotic cells, especially in energy production, calcium homeostasis and programmed cell death. The function of mitochondria is primarily regulated by genes encoded in the mitochondrion and nucleus. Many genes on HSA21 are involved in oxidative phosphorylation (OXPHOS) and regulation of mitochondrial functions. This review highlights the HSA21 dosage-sensitive nuclear-encoded mitochondrial genes associated with overexpression-related phenotypes seen in DS. This includes impaired mitochondrial dynamics, structural defects and dysregulated bioenergetic profiles such as OXPHOS deficiency and reduced ATP production. Various therapeutic approaches for modulating energy deficits in DS, effects and molecular mechanism of gene therapy and drugs that exert protective effects through modulation of mitochondrial function and attenuation of oxidative stress in DS cells were discussed. It is prudent that improving DS pathophysiological conditions or quality of life may be feasible by targeting something as simple as cellular mitochondrial biogenesis and function.

TÍTULO / TITLE:   - Generation of Urine-Derived Induced Pluripotent Stem Cells and Cerebral Organoids for Modeling Down Syndrome

REVISTA / JOURNAL:    - Stem Cell Rev Rep. 2023 Jan 18. doi: 10.1007/s12015-022-10497-8. Online ahead of print.

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AUTORES / AUTHORS: - Andr� Lu�z Teles E Silva et al

INSTITUCIÓN / INSTITUTION: - Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.  

RESUMEN / SUMMARY: - Down syndrome (DS, or trisomy 21, T21), is the most common genetic cause of intellectual disability. Alterations in the complex process of cerebral cortex development contribute to the neurological deficits in DS, although the underlying molecular and cellular mechanisms are not completely understood. Human cerebral organoids (COs) derived from three-dimensional (3D) cultures of induced pluripotent stem cells (iPSCs) provide a new avenue for gaining a better understanding of DS neuropathology. In this study, we aimed to generate iPSCs from individuals with DS (T21-iPSCs) and euploid controls using urine-derived cells, which can be easily and noninvasively obtained from most individuals, and examine their ability to differentiate into neurons and astrocytes grown in monolayer cultures, as well as into 3D COs. We employed nonintegrating episomal vectors to generate urine-derived iPSC lines, and a simple-to-use system to produce COs with forebrain identity. We observed that both T21 and control urine-derived iPSC lines successfully differentiate into neurons and astrocytes in monolayer, as well as into COs that recapitulate early features of human cortical development, including organization of neural progenitor zones, programmed differentiation of excitatory and inhibitory neurons, and upper-and deep-layer cortical neurons as well as astrocytes. Our findings demonstrate for the first time the suitability of using urine-derived iPSC lines to produce COs for modeling DS.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Diet Quality and Cardiometabolic Risk Factors in Adolescents with Down Syndrome

REVISTA / JOURNAL:    - J Acad Nutr Diet. 2023 Feb;123(2):253-262. doi: 10.1016/j.jand.2022.07.017. Epub 2022 Aug 5

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AUTORES / AUTHORS: - Neha S Anand et al

INSTITUCIÓN / INSTITUTION: - Boston Combined Residency Program, Boston Children s Hospital & Boston Medical Center, Boston, Massachusetts. 

RESUMEN / SUMMARY: - Youth with Down syndrome (DS) have a high prevalence of obesity and dyslipidemia. Diet quality may influence cardiometabolic risk (CMR) in youth. Objective: The aim of this secondary analysis was to investigate the relationship between diet quality (Healthy Eating Index [HEI-2015]) with CMR factors in youth with DS compared with age, sex, race, ethnicity, and body mass index percentile matched, typically developing controls. Design: Adolescents (aged 10 to 20 years) with DS and controls of comparable age, sex, race, ethnicity, and body mass index percentile were recruited from 2012 to 2017 for a cross-sectional study from two large children s hospitals (Children s Hospital of Philadelphia and the Children s National Health System in Washington, DC). Participants and setting: CMRs in 143 adolescents with DS were compared with 100 controls. Exclusion criteria consisted of major organ-system illnesses. Main outcome measures: The average of three 24-hour dietary recalls was used to calculate the HEI-2015. Anthropometrics, blood pressure, and fasting labs were collected. Statistical analyses performed: Group differences were tested using Wilcoxon rank-sum tests. Relationships of CMR factors with HEI-2015 score within DS and controls were tested using linear regression models adjusted for sex, age, race, and body mass index z score. Results: Compared with controls (n = 100, median age = 14.8 years [interquartile range = 12.2 to 17.3 years]; 41% male; 24% African American; 65% with body mass index ≥85th percentile), adolescents with DS (n = 143, median age = 14.7 years [interquartile range = 11.4 to 17.4 years]; 44% male; 18% African American; 62% with body mass index ≥85th percentile) had higher scores (more aligned with dietary recommendations) for total HEI-2015 (DS: 52.7 [interquartile range = 46.8 to 58.6] vs controls: 45.1 [interquartile range = 39.5 to 55.0]; P < 0.0001). Youth with DS also had higher HEI-2015 component scores for fruits, greens/beans, d

TÍTULO / TITLE:   - Lateral cephalometric characteristics in individuals with Down Syndrome compared to non-syndromic controls: a meta-analysis

REVISTA / JOURNAL:    - J Stomatol Oral Maxillofac Surg. 2023 Feb 2;101407. doi: 10.1016/j.jormas.2023.101407.

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AUTORES / AUTHORS: - Kara Bierley, Gregory S Antonarakis

INSTITUCIÓN / INSTITUTION: - University of Geneva faculty of dental medicine, CUMD, Department of Orthodontics, Rue Michel-Servet 1, 1211 Genève 4, Switzerland.  

RESUMEN / SUMMARY: - Objectives: The aim of this meta-analysis was to provide a complete synthesis of all studies involving lateral cephalometric measurements in Down Syndrome (DS) populations. Methods: A literature search was carried out using six electronic databases to identify studies comparing cephalometric characteristics between populations with DS and control (healthy) populations. Studies were selected according to the research objectives, and predefined inclusion and exclusion criteria. Only the cephalometric measurements included in three or more studies were analyzed. The random-effects meta-analysis model was used for data analysis, and all analyses were carried out using RevMan5 software. Results: From an initial 871 articles identified through the literature search, ten cross-sectional studies were finally selected based on the inclusion and exclusion criteria. Ten cephalometric measurements underwent meta-analysis, five linear and five angular measurements. Concerning the five linear measurements, namely S-N, ANS-PNS, Go-Gn, Ar-Go, and N-ANS all were significantly smaller in the DS population with the exception of Go-Gn. Of the five angular measurements, only three were statistically different between the DS and control groups. SNB and ANB angles were smaller in individuals with DS, whereas the basilar angle was larger. Subgroup analysis was also carried out based on age, and it was found that the gonial angle was significantly smaller before puberty, in individuals with DS. No differences between groups were found for the SNA angle. Conclusion: There are significant cephalometric differences between individuals with and without DS. Individuals with DS have a shorter anterior cranial base, maxillary length, upper anterior facial height and mandibular height. The ANB and SNB angles were also smaller in those with DS, but the SNA angle showed no differences. These findings may indicate that the Class III malocclusion commonly found in individuals with DS does not seem to b

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Thrombotic Microangiopathy Due to Progressive Disseminated Histoplasmosis in a Child With Down Syndrome and Acute Lymphoblastic Leukemia

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2023 Jan 1;45(1):38-40. doi: 10.1097/MPH.0000000000002556. Epub 2022 Sep 2

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AUTORES / AUTHORS: - Brittany A Cowfer et al.

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center and Monroe Carell Jr. Children s Hospital at Vanderbilt, Nashville, TN. 

RESUMEN / SUMMARY: - Histoplasmosis, a common mycosis in the south-central United States, may be life threatening in immunocompromised patients. We describe a 4-year-old female with Down syndrome and acute lymphoblastic leukemia who developed hemolytic anemia, thrombocytopenia, and renal failure, consistent with thrombotic microangiopathy. Bone marrow biopsy revealed non-necrotizing granulomas with GMS staining demonstrating budding yeast. Serum Histoplasma antigen testing was positive, providing further evidence for the diagnosis of progressive disseminated histoplasmosis. Treatment with amphotericin B, plasma exchange, and ventilator, vasopressor, and renal replacement support led to a full recovery. Providers should have a low threshold for histoplasmosis testing in ill immunocompromised patients, who are at greater risk for infection-related morbidity.

TÍTULO / TITLE:   - Layered immunity and layered leukemogenicity: Developmentally restricted mechanisms of pediatric leukemia initiation

REVISTA / JOURNAL:    - : Immunol Rev. 2023 Jan 2. doi: 10.1111/imr.13180. Online ahead of print

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AUTORES / AUTHORS: - Jonny Mendoza-Castrejon, Jeffrey A Magee

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Division of Hematology and Oncology, St. Louis, Missouri, USA 

RESUMEN / SUMMARY: - Hematopoietic stem cells (HSCs) and multipotent progenitor cells (MPPs) arise in successive waves during ontogeny, and their properties change significantly throughout life. Ontological changes in HSCs/MPPs underlie corresponding changes in mechanisms of pediatric leukemia initiation. As HSCs and MPPs progress from fetal to neonatal, juvenile and adult stages of life, they undergo transcriptional and epigenetic reprogramming that modifies immune output to meet age-specific pathogenic challenges. Some immune cells arise exclusively from fetal HSCs/MPPs. We propose that this layered immunity instructs cell fates that underlie a parallel layered leukemogenicity. Indeed, some pediatric leukemias, such as juvenile myelomonocytic leukemia, myeloid leukemia of Down syndrome, and infant pre-B-cell acute lymphoblastic leukemia, are age-restricted. They only present during infancy or early childhood. These leukemias likely arise from fetal progenitors that lose competence for transformation as they age. Other childhood leukemias, such as non-infant pre-B-cell acute lymphoblastic leukemia and acute myeloid leukemia, have mutation profiles that are common in childhood but rare in morphologically similar adult leukemias. These differences could reflect temporal changes in mechanisms of mutagenesis or changes in how progenitors respond to a given mutation at different ages. Interactions between leukemogenic mutations and normal developmental switches offer potential targets for therapy.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Risk for Severe Illness and Death among Pediatric Patients with Down Syndrome Hospitalized for COVID-19, Brazil

REVISTA / JOURNAL:    - Emerg Infect Dis. 2023 Jan;29(1):26-35. doi: 10.3201/eid2901.220530. Free PMC article

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AUTORES / AUTHORS: - Char Leung et al.

INSTITUCIÓN / INSTITUTION: - University of Leicester, Leicester, England, UK 

RESUMEN / SUMMARY: - Down syndrome is the most common human chromosomal disorder. Whether Down syndrome is a risk factor for severe COVID-19 outcomes in pediatric patients remains unclear, especially in low-to-middle income countries. We gathered data on patients <18 years of age with SARS-CoV-2 infection from a national registry in Brazil to assess the risk for severe outcomes among patients with Down syndrome. We included data from 14,684 hospitalized patients, 261 of whom had Down syndrome. After adjustments for sociodemographic and medical factors, patients with Down syndrome had 1.8 times higher odds of dying from COVID-19 (odds ratio 1.82, 95% CI 1.22-2.68) and 27% longer recovery times (hazard ratio 0.73, 95% CI 0.61-0.86) than patients without Down syndrome. We found Down syndrome was associated with increased risk for severe illness and death among COVID-19 patients. Guidelines for managing COVID-19 among pediatric patients with Down syndrome could improve outcomes for this population

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Dysregulated systemic metabolism in a Down syndrome mouse model

REVISTA / JOURNAL:    - Mol Metab. 2023 Feb;68:101666. doi: 10.1016/j.molmet.2022.101666. Epub 2022 Dec 29

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AUTORES / AUTHORS: - Dylan C Sarver et al

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Center for Metabolism and Obesity Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA 

RESUMEN / SUMMARY: - Objective: Trisomy 21 is one of the most complex genetic perturbations compatible with postnatal survival. Dosage imbalance arising from the triplication of genes on human chromosome 21 (Hsa21) affects multiple organ systems. Much of Down syndrome (DS) research, however, has focused on addressing how aneuploidy dysregulates CNS function leading to cognitive deficit. Although obesity, diabetes, and associated sequelae such as fatty liver and dyslipidemia are well documented in the DS population, only limited studies have been conducted to determine how gene dosage imbalance affects whole-body metabolism. Here, we conduct a comprehensive and systematic analysis of key metabolic parameters across different physiological states in the Ts65Dn trisomic mouse model of DS. Methods: Ts65Dn mice and euploid littermates were subjected to comprehensive metabolic phenotyping under basal (chow-fed) state and the pathophysiological state of obesity induced by a high-fat diet (HFD). RNA sequencing of liver, skeletal muscle, and two major fat depots were conducted to determine the impact of aneuploidy on tissue transcriptome. Pathway enrichments, gene-centrality, and key driver estimates were performed to provide insights into tissue autonomous and non-autonomous mechanisms contributing to the dysregulation of systemic metabolism. Results: Under the basal state, chow-fed Ts65Dn mice of both sexes had elevated locomotor activity and energy expenditure, reduced fasting serum cholesterol levels, and mild glucose intolerance. Sexually dimorphic deterioration in metabolic homeostasis became apparent when mice were challenged with a high-fat diet. While obese Ts65Dn mice of both sexes exhibited dyslipidemia, male mice also showed impaired systemic insulin sensitivity, reduced mitochondrial activity, and elevated fibrotic and inflammatory gene signatures in the liver and adipose tissue. Systems-level analysis highlighted conserved pathways and potential endocrine drivers of adipose-liver c

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Oxidative-Stress-Associated Proteostasis Disturbances and Increased DNA Damage in the Hippocampal Granule Cells of the Ts65Dn Model of Down Syndrome

REVISTA / JOURNAL:    - Antioxidants (Basel). 2022 Dec 9;11(12):2438. doi: 10.3390/antiox11122438

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AUTORES / AUTHORS: - Alba Puente-Bedia, Mar�a T Berciano, Carmen Mart�nez-Cu�, Miguel Lafarga, Noem� Rueda

INSTITUCIÓN / INSTITUTION: - Departamento de Fisiología y Farmacología, Facultad de Medicina, Universidad de Cantabria, 39011 Santander, Spain. 

RESUMEN / SUMMARY: - Oxidative stress (OS) is one of the neuropathological mechanisms responsible for the deficits in cognition and neuronal function in Down syndrome (DS). The Ts65Dn (TS) mouse replicates multiple DS phenotypes including hippocampal-dependent learning and memory deficits and similar brain oxidative status. To better understand the hippocampal oxidative profile in the adult TS mouse, we analyzed cellular OS-associated alterations in hippocampal granule cells (GCs), a neuronal population that plays an important role in memory formation and that is particularly affected in DS. For this purpose, we used biochemical, molecular, immunohistochemical, and electron microscopy techniques. Our results indicate that TS GCs show important OS-associated alterations in the systems essential for neuronal homeostasis: DNA damage response and proteostasis, particularly of the proteasome and lysosomal system. Specifically, TS GCs showed: (i) increased DNA damage, (ii) reorganization of nuclear proteolytic factories accompanied by a decline in proteasome activity and cytoplasmic aggregation of ubiquitinated proteins, (iii) formation of lysosomal-related structures containing lipid droplets of cytotoxic peroxidation products, and (iv) mitochondrial ultrastructural defects. These alterations could be implicated in enhanced cellular senescence, accelerated aging and neurodegeneration, and the early development of Alzheimers disease neuropathology present in TS mice and the DS population.

TÍTULO / TITLE:   - Defective engram allocation contributes to impaired fear memory performance in Down syndrome

REVISTA / JOURNAL:    - bioRxiv. 2023 Jan 11;2023.01.11.523460.

Enlace a la Editora de la Revista alvaro FernAndez-Blanco et al

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic form of intellectual disability (ID). The cellular and molecular mechanisms contributing to ID in DS are not completely understood. Recent evidence indicates that a given memory is encoded by sparsely distributed neurons, highly activated during learning, the engram cells. Intriguingly, mechanisms that are of paramount importance for engram formation are impaired in DS. Here we explored engram formation in a DS mouse model, the Ts65Dn and we found a reduced number of engram cells in the dentate gyrus (DG), suggesting reduced neuronal allocation to engrams. We also show that trisomic engram cells present reduced number of mature spines than WT engram cells and their excitability is not enhanced during memory recall. In fact, activation of engram cells using a chemogenetic approach does not recover memory deficits in Ts65Dn. Altogether, our findings suggest that perturbations in engram neurons may play a significant role in memory alterations in DS

TÍTULO / TITLE:   - Generation of Urine-Derived Induced Pluripotent Stem Cells and Cerebral Organoids for Modeling Down Syndrome

REVISTA / JOURNAL:    - Stem Cell Rev Rep. 2023 Jan 18. doi: 10.1007/s12015-022-10497-8. Online ahead of print.

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AUTORES / AUTHORS: - Andre Luiz Teles E Silva et al

INSTITUCIÓN / INSTITUTION: - Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil. 

RESUMEN / SUMMARY: - Down syndrome (DS, or trisomy 21, T21), is the most common genetic cause of intellectual disability. Alterations in the complex process of cerebral cortex development contribute to the neurological deficits in DS, although the underlying molecular and cellular mechanisms are not completely understood. Human cerebral organoids (COs) derived from three-dimensional (3D) cultures of induced pluripotent stem cells (iPSCs) provide a new avenue for gaining a better understanding of DS neuropathology. In this study, we aimed to generate iPSCs from individuals with DS (T21-iPSCs) and euploid controls using urine-derived cells, which can be easily and noninvasively obtained from most individuals, and examine their ability to differentiate into neurons and astrocytes grown in monolayer cultures, as well as into 3D COs. We employed nonintegrating episomal vectors to generate urine-derived iPSC lines, and a simple-to-use system to produce COs with forebrain identity. We observed that both T21 and control urine-derived iPSC lines successfully differentiate into neurons and astrocytes in monolayer, as well as into COs that recapitulate early features of human cortical development, including organization of neural progenitor zones, programmed differentiation of excitatory and inhibitory neurons, and upper-and deep-layer cortical neurons as well as astrocytes. Our findings demonstrate for the first time the suitability of using urine-derived iPSC lines to produce COs for modeling DS.

TÍTULO / TITLE:   - Regional redistribution of CB1 cannabinoid receptors in human fetal brains with Down s syndrome, and their functional modifications in Ts65Dn+/+ mice

REVISTA / JOURNAL:    - Neuropathol Appl Neurobiol. 2023 Jan 30;e12887. doi: 10.1111/nan.12887. Online ahead of print

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AUTORES / AUTHORS: - Agoston Patthy et al

INSTITUCIÓN / INSTITUTION: - Department of Anatomy, Semmelweis University, Budapest, Hungary. 

RESUMEN / SUMMARY: - Aims: The endocannabinoid system with its type 1 cannabinoid receptor (CB1 R) expressed in postmitotic neuroblasts is a critical chemotropic guidance module with its actions cascading across neurogenic commitment, neuronal polarization and synaptogenesis in vertebrates. Here, we present the systematic analysis of regional CB1 R expression in the developing human brain from gestational week 14 until birth. In parallel, we diagrammed differences in CB1 R development in Down syndrome fetuses and identified altered CB1 R signalling. Methods: Fetal brains with normal development or with Down s syndrome were analysed using standard immunohistochemistry, digitalized light microscopy and image analysis (NanoZoomer). CB1 R function was investigated by in vitro neuropharmacology from neonatal Ts65Dn transgenic mice brains carrying an additional copy of ~90 conserved protein-coding gene orthologues of the human chromosome 21. Results: We detected a meshwork of fine-calibre, often varicose processes between the subventricular and intermediate zones of the cortical plate in the late first trimester, when telencephalic fibre tracts develop. The density of CB1 Rs gradually decreased during the second and third trimesters in the neocortex. In contrast, CB1 R density was maintained, or even increased, in the hippocampus. We found the onset of CB1 R expression being delayed by ≥1 month in age-matched fetal brains with Down s syndrome. In vitro, CB1 R excitation induced excess microtubule stabilization and, consequently, reduced neurite outgrowth. Conclusions: We suggest that neuroarchitectural impairments in Down s syndrome brains involve the delayed development and errant functions of the endocannabinoid system, with a particular impact on endocannabinoids modulating axonal wiring

TÍTULO / TITLE:   - Visual discrimination and inhibitory control deficits in mouse models of Down syndrome: A pilot study using rodent touchscreen technology

REVISTA / JOURNAL:    - J Neurosci Res. 2023 Jan 5. doi: 10.1002/jnr.25160. Online ahead of print.

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AUTORES / AUTHORS: - Ashley Emily Siegel et al

INSTITUCIÓN / INSTITUTION: - 1Prenatal Genomics and Therapy (PGT) Section, Center for Precision Health Research (CPHR), National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA. 

RESUMEN / SUMMARY: - Several non-verbal cognitive and behavioral tests have been developed to assess learning deficits in humans with Down syndrome (DS). Here we used rodent touchscreen paradigms in adult male mice to investigate visual discrimination (VD) learning and inhibitory control in the Dp(16)1/Yey (C57BL/6J genetic background), Ts65Dn (mixed B6 X C3H genetic background) and Ts1Cje (C57BL/6J genetic background) mouse models of DS. Dp(16)1/Yey and Ts1Cje models did not exhibit motivation or learning deficits during early pre-training, however, Ts1Cje mice showed a significant learning delay after the introduction of the incorrect stimulus (late pre-training), suggesting prefrontal cortex defects in this model. Dp(16)1/Yey and Ts1Cje mice display learning deficits in VD but these deficits were more pronounced in the Dp(16)1/Yey model. Both models also exhibited compulsive behavior and abnormal cortical inhibitory control during Extinction compared to WT littermates. Finally, Ts65Dn mice outperformed WT littermates in pre-training stages by initiating a significantly higher number of trials due to their hyperactive behavior. Both Ts65Dn and WT littermates showed poor performance during late pre-training and were not tested in VD. These studies demonstrate significant learning deficits and compulsive behavior in the Ts1Cje and Dp(16)1/Yey mouse models of DS. They also demonstrate that the mouse genetic background (C57BL/6J vs. mixed B6 X C3H) and the absence of hyperactive behavior are key determinants of successful learning in touchscreen behavioral testing. These data will be used to select the mouse model that best mimics cognitive deficits in humans with DS and evaluate the effects of future therapeutic interventions.

TÍTULO / TITLE:   - Preclinical Development of the Na-K-2Cl Co-transporter-1 (NKCC1) Inhibitor ARN23746 for the Treatment of Neurodevelopmental Disorders

REVISTA / JOURNAL:    - ACS Pharmacol Transl Sci. 2023 Jan 4;6(1):1-11. doi: 10.1021/acsptsci.2c00197. eCollection 2023 Jan

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AUTORES / AUTHORS: - Annalisa Savardi et al

INSTITUCIÓN / INSTITUTION: - IAMA Therapeutics, via Filippo Turati 2/9, 16128 Genoa, Italy. 

RESUMEN / SUMMARY: - Alterations in the expression of the Cl- importer Na-K-2Cl co-transporter-1 (NKCC1) and the exporter K-Cl co-transporter 2 (KCC2) lead to impaired intracellular chloride concentration in neurons and imbalanced excitation/inhibition in the brain. These alterations have been observed in several neurological disorders (e.g., Down syndrome and autism). Recently, we have reported the discovery of the selective NKCC1 inhibitor "compound ARN23746" for the treatment of Down syndrome and autism in mouse models. Here, we report on an extensive preclinical characterization of ARN23746 toward its development as a clinical candidate. ARN23746 shows an overall excellent metabolism profile and good brain penetration. Moreover, ARN23746 is effective in rescuing cognitive impairment in Down syndrome mice upon per os administration, in line with oral treatment of neurodevelopmental disorders. Notably, ARN23746 does not present signs of toxicity or diuresis even if administered up to 50 times the effective dose. These results further support ARN23746 as a solid candidate for clinical trial-enabling studies.

TÍTULO / TITLE:   - Characterization of mitochondrial and metabolic alterations induced by trisomy 21 during neural differentiation

REVISTA / JOURNAL:    - Free Radic Biol Med. 2023 Feb 20;196:11-21. doi: 10.1016/j.freeradbiomed.2023.01.009. Epub 2023 Jan

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AUTORES / AUTHORS: - Kendra M Prutton et al

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Aurora, CO, USA; Linda Crnic Institute for Down Syndrome, Aurora, CO, USA. 

RESUMEN / SUMMARY: - Cellular redox state directs differentiation of induced pluripotent stem cells (iPSC) by energy metabolism control and ROS generation. As oxidative stress and mitochondrial dysfunction have been extensively reported in Down syndrome (DS), we evaluated mitochondrial phenotypes and energy metabolism during neural differentiation of DS iPSCs to neural progenitor cells (NPCs). Our results indicate early maturation of mitochondrial networks and elevated NADPH oxidase 4 (NOX4) expression in DS iPSCs. DS cells also fail to transition from glycolysis to oxidative phosphorylation during differentiation. Specifically, DS NPCs show an increased energetic demand that is limited in their mitochondrial and glycolytic response to mitochondrial distress. Additionally, DS iPSC and NPC non-mitochondrial oxygen consumption was significantly impacted by NOX inhibition. Together, these data build upon previous evidence of accelerated neural differentiation in DS that correlates with cellular redox state. We demonstrate the potential for mitochondrial and non-mitochondrial ROS sources to impact differentiation timing in the context of DS, which could contribute to developmental deficits in this condition.

Neurology - Neurología

TÍTULO / TITLE:   - Disorders of Gut-Brain Interaction in Children With Down Syndrome

REVISTA / JOURNAL:    -

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AUTORES / AUTHORS: - Ji Sook Park

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Gyeongsang National University College of Medicine, Jinju, Gyeongsangnam-do, Korea; and Institute of Health Sciences, Gyeongsang National University, Jinju, Gyeongsangnam-do, Korea. 

RESUMEN / SUMMARY: - Down syndrome is associated with multiple physical and psychiatric comorbidities caused by chromosomal abnormality. The incidence is around 1 in 600-700 live births worldwide and is not different according to race or nation. Because of multiple health problems including congenital heart disease, congenital gastrointestinal (GI) obstruction, hematologic or endocrine disorders and high susceptibility of infection, quality of life (QoL) of pediatric patients with Down syndrome and their caregivers is dependent on the severity of the comorbidities. According to the present article, besides the congenital abnormalities, disorders of gut-brain interaction (DGBIs) could also contribute the QoL of the patients and their caregivers. Although GI symptoms in pediatric patients with Down syndrome are associated with diverse physical or mental comorbidities, the high prevalence of DGBIs and the low QoL in families of children with Down syndrome in the present study suggest the need for promoting adequate management of DGBIs as well as comorbidities.

TÍTULO / TITLE:   - Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review

REVISTA / JOURNAL:    - Mov Disord Clin Pract. 2022 Oct 31;10(1):17-31. doi: 10.1002/mdc3.13577. eCollection 2023 Jan. Free

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AUTORES / AUTHORS: - Emma N M M von Scheibler et al.

INSTITUCIÓN / INSTITUTION: - Advisium s Heeren Loo Zorggroep Amersfoort The Netherlands 

RESUMEN / SUMMARY: - Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms. Methods: A systematic literature review was conducted in PubMed and Embase on June 15, 2021. Search terms for parkinsonism and genetic neurodevelopmental disorders, using generic terms and the Human Phenotype Ontology, were combined. Study characteristics and descriptive data were extracted from the articles using a modified version of the Cochrane Consumers and Communication Review Group s data extraction template. The protocol was registered in PROSPERO (CRD42020191035). Results: The literature search yielded 208 reports for data-extraction, describing 69 genetic disorders in 422 patients. The five most reported from most to least frequent were: 22q11.2 deletion syndrome, beta-propeller protein-associated neurodegeneration, Down syndrome, cerebrotendinous xanthomatosis, and Rett syndrome. Notable findings were an almost equal male to female ratio, an early median age of motor onset (26 years old) and rigidity being more common than rest tremor. Results of dopaminergic imaging and response to antiparkinsonian medication often supported the neurodegenerative nature of parkinsonism. Moreover, neuropathology results showed neuronal loss in the majority of cases. Proposed disease mechanisms included aberrant mitochondrial function and disruptions in neurotransmitter metabolism, endosomal trafficking, and the autophagic-lysosomal and ubiquitin-proteasome system. Conclusion: Parkinsonism has been reported in many GNDs. Findings from this study may provide clues for further research and improve management of patients with GNDs and/or parkinsonism.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Long-term Impact of Planovalgus Foot on Activities of Daily Living in Patients With Down Syndrome

REVISTA / JOURNAL:    - J Pediatr Orthop. 2023 Jan 19. doi: 10.1097/BPO.0000000000002354. Online ahead of print.

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AUTORES / AUTHORS: - Maria Galan-Olleros et al

INSTITUCIÓN / INSTITUTION: - Neuro-Orthopaedic Unit. Orthopaedic Surgery and Traumatology Department Hospital Clínico San Carlos, Madrid, Spain 

RESUMEN / SUMMARY: - Introduction: Planovalgus foot (PVF) is the most common orthopaedic abnormality in children with Down syndrome (DS), and as a result these patients rarely develop an adequate plantar arch in adulthood. The present study aims to evaluate the impact of PVF on activities of daily living and participation in sports among young adults with DS and determine whether this impact is related to the degree of foot deformity based on clinical and imaging studies. Methods: Observational analytical study examining a database of 649 patients with DS from a pediatric referral center, identifying those individuals over age 20 years at the time of the study with a childhood diagnosis of PVF. Finally, 51 patients (102 feet) were evaluated based on clinical and imaging studies, and function was assessed using the The Foot and Ankle Outcome Score (FAOS) and the Visual Analogue Scale (VAS) pain scale. A correlation analysis was performed to determine the clinical and radiographic variables associated with functional outcomes. Linear regression models were obtained to quantify the impact of these variables on function. Results: Patients had a mean age of 26.14±3.88 years and body mass index of 24.51±4.57. Clinically, 63.65% presented grade 3 or 4 PVF, and most were flexible. Radiographically, midfoot flattening was mild-moderate in 92.16%, 58.82% had medial talo-navicular uncoverage, and 30.39% had an increased hallux valgus (HV) angle. Mean scores for all FAOS subscales were between 65 and 71% and the mean VAS score was 1.45±1.96. An association analysis revealed a tendency toward lower scores on all FAOS subscales and greater pain according to the VAS scale in more severe PVF and in cases of moderate HV with asymmetry between feet. Linear regression models showed that major contributors to functional scores were radiographic evidence of hindfoot valgus, midfoot abduction, and flattening, andHV. Conclusions: Young adults with DS who are diagnosed with PVF in childhood have acceptable fun

TÍTULO / TITLE:   - Congenital atlanto-occipital dislocation in a patient with Down syndrome: a case report

REVISTA / JOURNAL:    - Skeletal Radiol. 2023 Feb 11. doi: 10.1007/s00256-023-04297-5. Online ahead of print.

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AUTORES / AUTHORS: - Ryoko Onodera et al.

INSTITUCIÓN / INSTITUTION: - Department of Orthopedic Surgery, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan. 

RESUMEN / SUMMARY: - Down syndrome, also known as trisomy 21, is associated with congenital cervical spine abnormalities, including atlantoaxial instability with or without os odontoideum, atlanto-occipital instability, and hypoplasia of the atlas. Herein, we report a case of Down syndrome complicated by congenital atlanto-occipital dislocation. The patient presented with severe cervical myelopathy at 13 years of age after a 10-year follow-up. Radiography and computed tomography revealed os odontoideum protruding into the foramen magnum and congenital anterior atlanto-occipital dislocation. Additionally, a bifurcated internal occipital crest with a thinned central portion of the occipital bone was noted. Magnetic resonance imaging revealed kyphotic alignment of the spinal cord with severe compression at the foramen magnum level. As the neurological impairment was partially improved by halo vest immobilization, we performed in situ O-C2 fusion with an iliac autograft and decompression of the foramen magnum and posterior arch of C1. An improvement was observed immediately after surgery. Two years after surgery, radiography and computed tomography showed solid O-C2 segment fusion. The accumulation of similar cases is essential for determining the prognosis or optimal treatment for this rare congenital condition

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - The effect of a telehealth exercise intervention on balance in adults with Down syndrome

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2023 Mar;36(2):385-393. doi: 10.1111/jar.13068. Epub 2022 Dec 30.

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AUTORES / AUTHORS: - Kristina Guerrero et al

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

RESUMEN / SUMMARY: - Background: People with Down syndrome often present with balance deficits, which compromise safety during daily activity. While evidence shows that exercise can improve balance in the Down syndrome population, it is unclear if a telehealth method will elicit similar benefits. We aimed to examine the effects of a virtual exercise program on balance in adults with Down syndrome. Methods: Eighteen low-active participants with Down syndrome completed a 12-week telehealth exercise program based on the Mann Method. Balance testing took place before and after the intervention, which included: TUG, MCTSIB, FICSIT-4, and FRT. This study was registered as a clinical trial on ClinicalTrials.gov, identifier: NCT04647851. Results: Significant improvement was seen in the TUG (p = .043), FICSIT-4 (p = .019) and FRT (p = .019). All participants achieved maximum scores on the MCTSIB in pre- and post-testing. Conclusions: Balance in low-active adults with Down syndrome significantly improved following the telehealth exercise program, which we attribute to the tailored exercises that address visual/vestibular deficits and hip muscle weakness.

TÍTULO / TITLE:   - Health Outcomes of Physical Activity Interventions in Adults With Down Syndrome: A Systematic Review

REVISTA / JOURNAL:    - Adapt Phys Activ Q. 2023 Jan 1;1-25. doi: 10.1123/apaq.2022-0102. Online ahead of print.

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AUTORES / AUTHORS: - Brantley K Ballenger et al.

INSTITUCIÓN / INSTITUTION: - Mississippi State University, Mississippi State, MS,USA. 

RESUMEN / SUMMARY: - This systematic review examined whether physical activity interventions improve health outcomes in adults with Down syndrome (DS). We searched PubMed, APA PsycInfo, SPORTDiscus, APA PsycARTICLES, and Psychology and Behavioral Sciences Collection using keywords related to DS and physical activity. We included 35 studies published in English since January 1, 1990. Modes of exercise training programs included aerobic exercise, strength training, combined aerobic and strength training, aquatic, sport and gaming, and aerobic and strength exercise interventions combined with health education. The evidence base indicates that aerobic and strength exercise training improve physical fitness variables including maximal oxygen uptake, maximal heart rate, upper and lower body strength, body weight, and body fat percentage. Sport and gaming interventions improve functional mobility, work task performance, and sport skill performance. We concluded that adults with DS can accrue health benefits from properly designed physical activity and exercise interventions.

TÍTULO / TITLE:   - Fundamental motor skill proficiency among 7- to 10-year-old children with Down syndrome

REVISTA / JOURNAL:    - J Phys Ther Sci. 2023 Jan;35(1):1-6. doi: 10.1589/jpts.35.1. Epub 2023 Jan 1. Free PMC article

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AUTORES / AUTHORS: - Myo Thein Tun et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, University of Medical Technology, Yangon, Ministry of Health: Lower Mingalardon Road, Aung San, Insein, Yangon 11012, Myanmar. 

RESUMEN / SUMMARY: - [Purpose] The purposes of this study were to assess the fundamental motor skill (FMS) of children with Down syndrome (DS) and to compare their FMS proficiencies to those of chronological age-matched and gender-matched typically developing children (TDC). [Participants and Methods] This cross-sectional study involved a total of 60 participants (30 children with DS and 30 TDC). The FMS proficiency of participants was assessed by using the test of gross motor development, second edition (TGMD-2). The data were analyzed using independent samples t-tests to verify the differences between the two groups and gender. The effect size of Cohen s d was also determined for comparing the two groups. [Results] The results showed that there were significant differences between children with DS and the TDC on locomotor and object control standard scores, and the gross motor quotient (GMQ). However, there were no significant gender-based differences in the locomotor and object control standard scores and the GMQ in both groups. [Conclusion] Based on the current results, the FMS proficiency of children with DS is lower than the TDC. Therefore, a therapeutic intervention program is necessary for children with DS to improve their FMS proficiency.

TÍTULO / TITLE:   - Calibration of hip accelerometers for measuring physical activity and sedentary behaviours in adults with Down syndrome

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2023 Feb;67(2):172-181. doi: 10.1111/jir.13002. Epub 2022 Dec 13.

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AUTORES / AUTHORS: - S Agiovlasitis et al

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology, Mississippi State University, Starkville, MS, USA. 

RESUMEN / SUMMARY: - Background: The knowledge base on physical activity and sedentary behaviour in adults with Down syndrome (DS) may advance by accelerometer calibration studies. This study aimed to develop cut-points for sedentary behaviour and moderate-to-vigorous physical activity (MVPA) for adults with DS based on output from accelerometers worn on the dominant and non-dominant hips. Methods: Sixteen adults with DS (10 men; age 31 ± 15 years) performed 12 tasks including sedentary behaviours and physical activities. We obtained metabolic equivalents (METs) with indirect calorimetry and vector magnitude (VM) output from triaxial accelerometers (wGT3X-BT, ActiGraph) worn on the dominant and non-dominant hips. Receiver operating characteristic curves were used to identify optimal VM cut-points that maximised sensitivity and specificity. Results: Overall classification accuracy was very high (area under the ROC curve: 0.95 and 0.92 for sedentary and MVPA models, respectively). For the non-dominant hip, the optimal VM cut-points were (1) sedentary behaviour ≤236 counts·min-1 and (2) MVPA ≥2167 counts·min-1 . For the dominant hip, optimal cut-points were (1) sedentary behaviour ≤243 counts·min-1 and (2) MVPA ≥2092 counts·min-1 . Conclusions: The presented VM cut-points for sedentary behaviour and MVPA for adults with DS had high classification accuracy. There were small differences in accelerometer cut-points between the dominant and non-dominant hip.

TÍTULO / TITLE:   - Factors That Influence Physical Activity in Individuals With Down Syndrome: Perspectives of Guardians and Health Professionals

REVISTA / JOURNAL:    - Adapt Phys Activ Q. 2023 Feb 8;1-20. doi: 10.1123/apaq.2022-0103. Online ahead of print.

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AUTORES / AUTHORS: - Emma E Schultz et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Identifying factors that influence physical activity (PA) among individuals with Down syndrome is essential for PA promotion. Insight can be gained from guardians and health professionals. The purpose of this study was to explore the perspectives of guardians and health professionals on facilitators and barriers of PA in individuals with Down syndrome. Interviews were conducted with 11 guardians (five mothers, four fathers, and two legal guardians) and 11 professionals (four PA specialists, three physical therapists, and four occupational therapists). Grounded theory was applied. Barriers and facilitators fit the levels of the ecological model of health behavior: (a) intrapersonal (perceived rewards), (b) interpersonal (interaction), (c) community (availability of programs), (d) organizational (school systems), and (e) policy (education). Guardians and professionals agreed on the importance of enjoyment, interaction, and programs to promote PA. Differences between groups were identified at the organizational and policy levels. PA in persons with Down syndrome is influenced by interactions between individual and environmental factors.

TÍTULO / TITLE:   - The Effectiveness of Computer Aided Video Modeling in Teaching Basic Basketball Movements to Individuals with Down Syndrome

REVISTA / JOURNAL:    - Children (Basel). 2023 Jan 12;10(1):153. doi: 10.3390/children10010153. Free PMC article

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AUTORES / AUTHORS: - Aslan Aydogan 1, Mukaddes Sakalli Demirok

INSTITUCIÓN / INSTITUTION: - Special Education Department, Atatürk Education Faculty, Near East University, Nicosia 99138, Cyprus 

RESUMEN / SUMMARY: - In this study, the effectiveness of the video modeling method in teaching basic basketball skills to students with Down syndrome was examined. Four students with Down syndrome, who were studying at the disability free living center in Dolayaba, participated in this study. The ages of the students diagnosed with Down syndrome were as follows: two of them were 13, the others were 14 and 16. In the study, the effectiveness of video modeling in teaching basic basketball skills was evaluated using the multiple probe model, one of the single-subject research methods. The experimental process of the study consisted of collecting baseline data, daily, conducting instructional sessions, maintenance and generalization stages. The findings of the study showed that video modeling was effective in teaching basic basketball skills to students with Down syndrome and that they maintained the skills in interpersonal and environmental differences after the end of the instruction. When the opinions of the basketball teacher and the students were evaluated, it was determined that the students self-confidence and peer relations were strengthened thanks to their active participation in the lessons. The students were not bored because they stated that they found the lessons interesting and fun.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Down Syndrome: how to communicate the diagnosis

REVISTA / JOURNAL:    - Ital J Pediatr. 2023 Feb 9;49(1):18. doi: 10.1186/s13052-023-01419-6. Free PMC article

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AUTORES / AUTHORS: - Caterina Gori et al.

INSTITUCIÓN / INSTITUTION: - IRCCS Institute of Neurological Sciences of Bologna, UOC Neuropsychiatry of the Pediatric Age, Bologna, Italy 

RESUMEN / SUMMARY: - Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be confident in some general indications, which are often overlooked in the strict hospital routine. This article is intended as a summary of the main articles published on this subject in the international literature, collecting and summarising the most important indications that have emerged in years of medical practice all over the world as well as in our personal experience. The diffusion of these guidelines is essential to help the doctor in this difficult task, on which there is often little training, and above all to guarantee to the parents the least traumatic communication possible.

TÍTULO / TITLE:   - Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome

REVISTA / JOURNAL:    - J Ultrasound Med. 2023 Feb 6. doi: 10.1002/jum.16190. Online ahead of print

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AUTORES / AUTHORS: - Kristen A Miller et al.

INSTITUCIÓN / INSTITUTION: - Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA. 

RESUMEN / SUMMARY: - Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Results: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P < .00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Conclusion: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Down syndrome regression disorder: updates and therapeutic advances

REVISTA / JOURNAL:    - Curr Opin Psychiatry. 2023 Mar 1;36(2):96-103. doi: 10.1097/YCO.0000000000000845. Epub 2022 Dec 29.

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AUTORES / AUTHORS: - Jonathan D Santoro et al

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

RESUMEN / SUMMARY: - Purpose of review: Down syndrome regression disorder (DSRD) is a symptom cluster consisting of neuropsychiatric regression without cause. Although knowledge of this condition has accelerated over the last decade, prior studies have been limited by heterogenous nomenclature, diagnostic approaches and therapeutic interventions. This review highlights recent advances in the diagnosis and clinical approach to DSRD and reviews the most up-to-date literature on therapeutic interventions for this condition. Recent findings: Several multicentre studies have reported exciting findings on the presence of neurodiagnostic study abnormalities and responses to a variety of therapeutics, including psychotropics (including benzodiazepines), electroconvulsive therapy and immunotherapy. Differential response rates have been observed in the presence and absence of a variety of clinical and diagnostic factors. Summary: Individuals with DSRD are responsive to a variety of psychiatric pharmacotherapy and immunotherapy underscoring this phenotype may have multiple causes. Multidisciplinary care is helpful in the evaluation and management of individuals with this condition.

TÍTULO / TITLE:   - Letter to the Editor regarding "Unexplained regression in Down syndrome: Management of 51 patients in an international patient database" by Santoro et al

REVISTA / JOURNAL:    - Am J Med Genet A. 2023 Jan 4. doi: 10.1002/ajmg.a.63117. Online ahead of print.

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AUTORES / AUTHORS: - Alexander Palffy, Neera Ghaziuddin

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, USA. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach

REVISTA / JOURNAL:    - Mol Autism. 2023 Jan 13;14(1):3. doi: 10.1186/s13229-022-00530-5. Free PMC article

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AUTORES / AUTHORS: - Natali Bozhilova et al

INSTITUCIÓN / INSTITUTION: - School of Psychology, University of Surrey, Guilford, UK. 

RESUMEN / SUMMARY: - Background: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of > 1500 individuals with rare genetic syndromes. Methods: Profiles of autistic characteristics based on the Social Communication Questionnaire (SCQ) scores were generated for thirteen genetic syndrome groups (Angelman n = 154, Cri du Chat n = 75, Cornelia de Lange n = 199, fragile X n = 297, Prader-Willi n = 278, Lowe n = 89, Smith-Magenis n = 54, Down n = 135, Sotos n = 40, Rubinstein-Taybi n = 102, 1p36 deletion n = 41, tuberous sclerosis complex n = 83 and Phelan-McDermid n = 35 syndromes). It was hypothesised that each syndrome group would evidence a degree of specificity in autistic characteristics. To test this hypothesis, a classification algorithm via support vector machine (SVM) learning was applied to scores from over 1500 individuals diagnosed with one of the thirteen genetic syndromes and autistic individuals who did not have a known genetic syndrome (ASD; n = 254). Self-help skills were included as an additional predictor. Results: Genetic syndromes were associated with different but overlapping autism-related profiles, indicated by the substantial accuracy of the entire, multiclass SVM model (55% correctly classified individuals). Syndrome groups such as Angelman, fragile X, Prader-Willi, Rubinstein-Taybi and Cornelia de Lange showed greater phenotypic specificity than groups such as Cri du Chat, Lowe, Smith-Magenis, tuberous sclerosis complex, Sotos and Phelan-McDermid. The inclusion of the ASD reference group and self-help skills did not change the model accuracy. Limitations: The key limitations

TÍTULO / TITLE:   - Disorders of Gut-Brain Interaction in Children With Down Syndrome

REVISTA / JOURNAL:    - J Neurogastroenterol Motil. 2023 Jan 30;29(1):3-4.doi: 10.5056/jnm22205.

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AUTORES / AUTHORS: - Ji Sook Park

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Gyeongsang National University College of Medicine, Jinju, Gyeongsangnam-do, Korea; and Institute of Health Sciences, Gyeongsang National University, Jinju, Gyeongsangnam-do, Korea. 

RESUMEN / SUMMARY: - Down syndrome is associated with multiple physical and psychiatric comorbidities caused by chromosomal abnormality. The incidence is around 1 in 600-700 live births worldwide and is not different according to race or nation. Because of multiple health problems including congenital heart disease, congenital gastrointestinal (GI) obstruction, hematologic or endocrine disorders and high susceptibility of infection, quality of life (QoL) of pediatric patients with Down syndrome and their caregivers is dependent on the severity of the comorbidities. According to the present article, besides the congenital abnormalities, disorders of gut-brain interaction (DGBIs) could also contribute the QoL of the patients and their caregivers. Although GI symptoms in pediatric patients with Down syndrome are associated with diverse physical or mental comorbidities, the high prevalence of DGBIs and the low QoL in families of children with Down syndrome in the present study suggest the need for promoting adequate management of DGBIs as well as comorbidities.

TÍTULO / TITLE:   - Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers

REVISTA / JOURNAL:    - J Autism Dev Disord. 2023 Jan 9. doi: 10.1007/s10803-022-05758-x. Online ahead of print.

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AUTORES / AUTHORS: - Noemi Alice Spinazzi et al

INSTITUCIÓN / INSTITUTION: - Division of Primary Care, Department of Pediatrics, UCSF Benioff Children s Hospital Oakland, 5220 Claremont Ave, Oakland, CA, USA. 

RESUMEN / SUMMARY: - This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

TÍTULO / TITLE:   - Comparing sensory processing in children with Down syndrome to a mental age matched sample of children with autism, other developmental disabilities, and typically developing children

REVISTA / JOURNAL:    - Res Dev Disabil. 2023 Mar;134:104421. doi: 10.1016/j.ridd.2022.104421. Epub 2023 Jan 11.

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AUTORES / AUTHORS: - Elizabeth B Isralowitz et al

INSTITUCIÓN / INSTITUTION: - Division of Occupational Science and Occupational Therapy, University of Southern California, 1540 Alcazar St., CHP-133, Los Angeles, CA, 90089-9003, USA. 

RESUMEN / SUMMARY: - Background: Atypical sensory processing impacts children with intellectual and developmental disabilities (IDD). Research has focused on SP in individuals with autism spectrum disorder (ASD); comparatively, little has been written regarding individuals with Down syndrome (DS) and IDDs. Aims: We compared patterns of sensory processing in children with DS to children with ASD, other IDDs, and typically developing (TD) peers examining the relationship among different sensory processing measures. Methods and procedures: We analyzed cross-sectional data using two caregiver questionnaires (SP, SEQ) and one observational measure (SPA). Groups were compared on three sensory processing patterns: hyporesponsiveness; hyperresponsiveness; and sensory interests, repetitions, and seeking (SIRS) via ANOVA. We assessed concordance through correlations. Outcomes and results: Children with DS, IDD, and ASD demonstrated more atypical sensory processing behaviors than TD peers. Children with ASD exhibited the most atypical responses across all measures, significantly more than DS children on all but one subscale. The IDD and DS groups differed on several measures. Measurement concordance was higher between caregiver-report versus observational assessment. Conclusions and implications: Differences between three clinical groups indicate that sensory processing features may differ across clinical populations regardless of cognitive functioning. Lower concordance between caregiver-report and observation measures highlights the need to understand sensory processing expression across different tasks and environments.

TÍTULO / TITLE:   - Confirmatory factor analysis of the BRIEF2 in a sample of youth with Down syndrome

REVISTA / JOURNAL:    - J Intellect Disabil Res . 2023 Feb;67(2):148-158. doi: 10.1111/jir.13000. Epub 2022 Dec 26

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AUTORES / AUTHORS: - A Soltani et al.

INSTITUCIÓN / INSTITUTION: - Division of Developmental and Behavioral Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA. 

RESUMEN / SUMMARY: - Background: The factor structure of the Behavior Rating Inventory of Executive Function, second edition (BRIEF2) has been widely examined in both typically developing children and specific clinical samples. Despite the frequent use of the BRIEF2 for measuring executive functioning in individuals with Down syndrome, no study has investigated the factorial validity or dimensionality of the BRIEF2 in this population. This study aimed to address this notable gap in the literature. Methods: Parents of 407 children and youth with Down syndrome aged 6-18 years completed the BRIEF2 as part of different studies led by six sites. Three competing models proposed by previous studies were analysed using Confirmatory Factor Analysis: the theoretical structure of the BRIEF2 where the scales were constrained to load on three factors labelled as Cognitive, Behavioral, and Emotional Regulation, a two-factor correlated model with the merged Behavioral and Emotional regulation, and a single-factor model. Results: The three-factor model provided a better fit than the one- and two-factor models, yet a large correlation was observed between Behavioural and Emotional regulation factors. The results provide meaningful explanatory value for the theoretical structure of the BRIEF2. However, the Behavioral and Emotional regulation factors might be less differentiated and the two-factor structure of the BRIEF2 may also make theoretical and empirical sense. Conclusions: Although more studies are needed to further examine the factor structure of the BRIEF2 in youth with Down syndrome, this investigation provides preliminary support for the interpretation of the three executive function index scores provided by the BRIEF2: Cognitive, Behavioral, and Emotional Regulation.

TÍTULO / TITLE:   - Assessment of oppositional defiant disorder and oppositional behavior in children and adolescents with Down syndrome

REVISTA / JOURNAL:    - Front Psychiatry. 2023 Jan 16;13:1062201. doi: 10.3389/fpsyt.2022.1062201. eCollection 2022. Free P

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AUTORES / AUTHORS: - Elisa Fuca et al

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

RESUMEN / SUMMARY: - Introduction: Children and adolescents with intellectual disability (ID) exhibit higher rates of oppositional defiant disorder (ODD) than typically developing (TD) peers. However, studies focusing on the investigation of ODD prevalence in youth with Down syndrome (DS) are still limited. Methods: The current study aimed to investigate the prevalence of ODD clinical and subclinical symptoms in a group of 101 youth with DS (63 boys, 38 girls) ranging in age from 6 to 18 years. Moreover, the prevalence of ODD symptoms, as detected by means of three parent-report questionnaires, was compared with that detected by a semi-structured psychopathological interview, namely, the Schedule for Affective Disorders and Schizophrenia for School Aged Children Present and Lifetime (K-SADS) Version Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5). Results: We found that 17% of participants met diagnostic criteria for ODD on the K-SADS, whereas 24% exhibited subclinical symptoms. Results also suggest good specificity of Swanson, Nolan, and Pelham-IV Rating Scale (SNAP-IV), Conners Parent Rating Scales Long Version (CPRS) and Child Behavior Checklist (CBCL) in detecting ODD symptoms. The investigation of the agreement in the prevalence rates of clinical and subclinical symptoms of ODD between K-SADS and the parent-report questionnaires indicated CPRS as the parent-report questionnaire with the best agreement with K-SADS. Discussion: This study provides support for the use of parent-report questionnaires to assess ODD symptoms in children and adolescents with DS by evaluating their levels of agreement with a semi-structured psychopathological interview. In particular, our results suggest that CPRS could be considered a suitable screening tool for ODD clinical and subclinical symptoms in youth with DS.

TÍTULO / TITLE:   - Cognitive flexibility assessment in youth with Down syndrome: Reliability, practice effects, and validity

REVISTA / JOURNAL:    - Res Dev Disabil. 2023 Feb;133:104416. doi: 10.1016/j.ridd.2022.104416. Epub 2023 Jan 3.

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AUTORES / AUTHORS: - Emily K Schworer et al.

INSTITUCIÓN / INSTITUTION: - Division of Developmental and Behavioral Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA; University of Wisconsin-Madison, Waisman Center, Madison, WI, USA 

RESUMEN / SUMMARY: - Background: Cognitive flexibility refers to the ability to switch between different mental sets, tasks, or strategies and is challenging for some individuals with Down syndrome (DS). The lack of reliable and valid cognitive flexibility measures for individuals with DS is a major barrier to clinical trials and intervention studies designed to address cognitive challenges specific to DS. To avoid measurement limitations that could confound interpretations of performance in clinical trials in children with DS, it is critical to use phenotype-sensitive and psychometrically sound measures of cognitive flexibility. Aim: This study aimed to evaluate the psychometric properties of three measures of cognitive flexibility including Rule-Shift, Weigl Sorting, and KiTAP Flexibility in a sample of 97 youth with DS aged 6-17 years old. Method: Data were collected at two time points with a two-week interval. Parents also completed adaptive behavior and cognitive flexibility questionnaires. Child cognitive and language abilities were also assessed. Results: The Weigl Sorting met the most psychometric criteria, with adequate feasibility (≥ 80 %) and significant correlations with most of the broader developmental domains; however, the levels of test-retest reliability, practice effects, and convergent validity did not meet a priori criteria. Rule-Shift and KiTAP Flexibility measures did not have acceptable feasibility; although sensitivity and specificity analyses revealed that Rule-Shift may be appropriate for a subgroup of the participants. Conclusion: No evaluated measures met all psychometric study criteria and, therefore, additional evaluation of cognitive flexibility measures is needed for use among individuals with DS.

TÍTULO / TITLE:   - Profiles and trajectories of executive functioning in young children with Down syndrome

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2023 Jan 15. doi: 10.1111/jir.13008. Online ahead of print.

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AUTORES / AUTHORS: - A Dimachkie Nunnally et al

INSTITUCIÓN / INSTITUTION: - M.I.N.D Institute, University of California, Davis, CA, USA. 

RESUMEN / SUMMARY: - Background: Language acquisition strongly predicts executive functioning (EF) in early childhood in typical development and in children with Down syndrome (DS). Both language and EF are critical contributors to later positive social and academic outcomes yet are often areas of concern in children with DS. Despite the wider availability of interventions targeting language development in DS, no efforts have been made to understand how these interventions may influence the development of EF in this population. Methods: This study examined secondary data from 76 preschoolers with DS collected as part of a randomised waitlist control trial of an early social communication intervention (JASPER-EMT). Children s EF skills were measured using the BRIEF-P, at three timepoints over 6 months. Linear regression was used to examine the baseline relationship between child characteristics and the three indices of the BRIEF-P: Emergent Metacognition, Flexibility and Inhibitory Self-Control. Linear mixed effects models were used to estimate change across the three indices of the BRIEF-P and whether that change was moderated by treatment. Results: Children in this sample exhibited an uneven profile of EF at baseline, with relative strengths in the Flexibility Index and the Inhibitory Self-Control Index, and relative weaknesses in the Emerging Metacognition Index. Chronological age was associated with all indices at baseline (all P < 0.05). Children in the intervention group exhibited improvements in the Flexibility Index from entry to exit (3 months later) compared with the control, although this treatment effect did not maintain at the follow up at 6 months. Conclusions: Baseline EF profiles of children were consistent with findings of other studies with children with DS. Longitudinal findings suggest that behavioural interventions targeting language may have positive collateral effects on certain EF skills, however these effects may be transitory without ongoing support. These findi

TÍTULO / TITLE:   - The Mediatory Role of Executive Functioning on the Association Between Sleep and Both Everyday Memory and ADHD Symptoms in Children and Youth With Down Syndrome

REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2023 Jan 1;128(1):82-95. doi: 10.1352/1944-7558-128.1.82.

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AUTORES / AUTHORS: - Amanallah Soltani et al

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

RESUMEN / SUMMARY: - People with Down syndrome (DS) commonly experience challenges with sleep, executive functioning, everyday memory, and symptoms of attention deficit hyperactivity disorder (ADHD). A path analysis was conducted to determine if executive function mediated the relationship between sleep problems and both everyday memory and ADHD symptoms. Parents of 96 children and youth with DS completed questionnaires related to sleep, executive functioning, everyday memory, and ADHD symptoms. Results showed that executive functioning fully mediated the relation between sleep and both everyday memory and ADHD symptoms. Implications for education and intervention for children and youth with DS are discussed.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Down Syndrome: how to communicate the diagnosis

REVISTA / JOURNAL:    - Ital J Pediatr. 2023 Feb 9;49(1):18. doi: 10.1186/s13052-023-01419-6. Free PMC article

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AUTORES / AUTHORS: - Caterina Gori et al.

INSTITUCIÓN / INSTITUTION: - IRCCS Institute of Neurological Sciences of Bologna, UOC Neuropsychiatry of the Pediatric Age, Bologna, Italy. 

RESUMEN / SUMMARY: - Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be confident in some general indications, which are often overlooked in the strict hospital routine. This article is intended as a summary of the main articles published on this subject in the international literature, collecting and summarising the most important indications that have emerged in years of medical practice all over the world as well as in our personal experience. The diffusion of these guidelines is essential to help the doctor in this difficult task, on which there is often little training, and above all to guarantee to the parents the least traumatic communication possible.

TÍTULO / TITLE:   - Health in Down syndrome: creating a conceptual model

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2023 Jan 17. doi: 10.1111/jir.13007. Online ahead of print.

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AUTORES / AUTHORS: - S L Santoro et al

INSTITUCIÓN / INSTITUTION: - Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being. Methods: In 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS. Results: Feedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS. Conclusion: Health in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.

TÍTULO / TITLE:   - Designing an international survey for organisations serving people with Down syndrome

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2023 Jan 19. doi: 10.1111/jar.13071. Online ahead of print.

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AUTORES / AUTHORS: - Daniel J Kats et al

INSTITUCIÓN / INSTITUTION: - Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - Background: Down syndrome is the most common liveborn genetic condition. However, there are no surveys measuring societal services and supports for people with Down syndrome. We developed a questionnaire so that initiatives could be targeted towards countries most in need of assistance. Method: We formed a geographically diverse group of physicians, family members of people with Down syndrome, and members of Down syndrome not-for-profit organisations to create a survey of societal services and supports. We used a modified Delphi method and disseminated the survey to Down syndrome non-profit organisations worldwide. Results: Our survey consists of 61 items categorised within five domains: Education, Community Inclusion, Independence, Healthcare, and Social and Policy Issues. Conclusions: We developed a survey to measure societal services and supports available to people with Down syndrome as perceived by organisational leaders. Our methods might serve as a blueprint for other populations of people with intellectual and developmental disabilities.

TÍTULO / TITLE:   - Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics

REVISTA / JOURNAL:    - Am J Med Genet A. 2023 Mar;191(3):770-775. doi: 10.1002/ajmg.a.63072. Epub 2022 Dec 7.

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AUTORES / AUTHORS: - J Seth VanZant, Kishore Vellody

INSTITUCIÓN / INSTITUTION: - UPMC Children s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) have specific health care needs and require additional screening and surveillance for commonly associated conditions. The American Academy of Pediatrics (AAP) Committee on Genetics has provided clinical guidance in "Health Supervision for Children and Adolescents with Down Syndrome." Many DS specialty centers (DSC) have been created, in part, to help ensure adherence to these guidelines. The primary purpose of this work is to determine the financial impact of a specialized DSC. A retrospective chart review was completed for all patients seen in DSC for fiscal year 2018 (June 2018-June 2019). Charts were reviewed to ascertain the financial impact of a DSC to a healthcare system by calculating total downstream charges (using CMS Chargemaster) as a surrogate marker for financial impact. Five-hundred-seventy-four patient encounters were conducted; 99 were new patient visits. Annual charges totaled $1,399,450. The 1-5-year-old age group accounted for greater than half of all charges. The greatest proportion of charges resulted from sleep studies and other diagnostic testing (55%). DS clinics are extremely helpful in ensuring that children receive guideline-based care. Taking into account downstream revenue, specialized DSCs are also financially beneficial to the institutions with whom they are affiliated.

TÍTULO / TITLE:   - Health-related quality of life in children with Down syndrome

REVISTA / JOURNAL:    - Arch Argent Pediatr. 2023 Jan 26;e202202756. doi: 10.5546/aap.2022-02756.eng. Online ahead of print

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AUTORES / AUTHORS: - Eugenia Fernandez Scotto , Alfredo Eymann

INSTITUCIÓN / INSTITUTION: - Service of Clinical Pediatrics, Department of Pediatrics, Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.  

RESUMEN / SUMMARY: - Introduction. The characteristics of patients with Down syndrome (DS) may affect their quality of life. The objective of this study was to assess the health-related quality of life (HRQoL) in patients with DS. Population and methods. This was a cross-sectional study to assess the HRQoL with the PedsQL 4.0 questionnaire administered to patients with DS and healthy patients aged 2 to 4 years in 2020-2021 at a teaching hospital. Results. Each study group included 51 patients. The HRQoL score in children with DS was 82.1 compared to 88 (p = 0.003) in the population without DS. Psychosocial health was impacted the most (p = 0.007), especially in terms of social and school functioning (p = 0.0001). Conclusion. Children with DS aged 2 to 4 years were observed to have a lower HRQoL. The psychosocial health scale was affected the most, especially in terms of social and school functioning.

TÍTULO / TITLE:   - Communicating the complex lives of families that include a child with Down syndrome

REVISTA / JOURNAL:    - Health Sociol Rev. 2023 Feb 7;1-23. doi: 10.1080/14461242.2022.2161405. Online ahead of print.

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AUTORES / AUTHORS: - Emma Cooke et al.

INSTITUCIÓN / INSTITUTION: - Child Health Research Centre, The University of Queensland, South Brisbane, Australia 

RESUMEN / SUMMARY: - Families of children with Down syndrome experience complex lives and needs, yet the few existing studies on these families are written in conventional academic prose that is not optimal for knowledge translation beyond academia, particularly for busy healthcare professionals. In this paper, we Depart Radically in Academic Writing (DRAW) (Mackinlay, 2022) and present data poetry and two case studies that draw upon semi-structured interviews with mothers, fathers, and siblings, who were interviewed separately about their experiences of having a child/sibling with Down syndrome. We introduce our interdisciplinary team that includes academics and clinicians to contextualise our focus on research translation. We demonstrate that writing with creative criticality (i.e. DRAWing ) contributes an embodied and affective understanding of research participants stories, which is largely lacking in the academic literature on families of children with Down syndrome and the sociology of health and illness field more broadly. Moreover, DRAWing can impact audiences emotionally as well as intellectually (Richardson, 2003, p. 924), which has important knowledge translation implications for both healthcare professionals and these families. DRAWing can capture healthcare professionals attention, prompting them to critically reflect on their practices and opportunities for improving care and treatment for these families.

TÍTULO / TITLE:   - A Mixed Methods Analysis of Care Coordination Needs and Desirable Features of an M-Health Application to Support Caregivers of Children With Down Syndrome

REVISTA / JOURNAL:    - J Pediatr Health Care. 2023 Jan-Feb;37(1):30-39. doi: 10.1016/j.pedhc.2022.08.002. Epub 2022 Oct 17

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AUTORES / AUTHORS: - Beth Cosgrove Kathleen Knafl, Marcia Van Riper

INSTITUCIÓN / INSTITUTION: - School of Nursing, University of North Carolina at Chapel Hill, Chapel Hill, NC  

RESUMEN / SUMMARY: - Introduction: Care coordination is critical for the management of health care needs of children with Down syndrome by encompassing management of health information and linking of providers. This study was designed to identify caregiver and health care provider experiences of care coordination to inform the development of an m-health application. Method: In this mixed methods study, caregivers completed survey materials addressing the child s health care needs, m-health use, and care coordination experiences. A sample of caregivers and health care providers were interviewed to further understanding. Results: Most caregivers reported having a primary health care provider but wanted increased communication and help with care coordination. Interview data identified themes related to care coordination challenges, including information management, information sharing, use of health care guidelines, tracking health data, resources, technology use, previous application use, and coordination of schedules. Discussion: Qualitative themes were linked to desired features of an m-health application to aid in development.

TÍTULO / TITLE:   - Parent-mediated intervention training for caregivers of children with developmental differences in Zambia

REVISTA / JOURNAL:    - Res Dev Disabil. 2023 Jan;132:104373. doi: 10.1016/j.ridd.2022.104373. Epub 2022 Nov 19.

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AUTORES / AUTHORS: - Jillian M Pierucci � Haatembo Mooya

INSTITUCIÓN / INSTITUTION: - Department of Psychology, St. Mary s University, One Camino Santa Maria, San Antonio, TX 78228, USA.  

RESUMEN / SUMMARY: - Department of Psychology, University of Zambia, Great East Road Campus, P.O. Box 32379 Lusaka, Zambia. Electronic address: haatembo.mooya@unza.zm Background: Lower- and middle-income countries (LAMICs) are under-resourced and have limited intervention services for children with developmental differences and their families. A logical method to address service gaps within resource-scarce contexts is to train caregivers as interventionists, specifically using empirically-supported parent-mediated Naturalistic Developmental Behavioral Interventions (P-M NDBIs; Kasari et al., 2010; Ingersoll & Wainer, 2013). Aims: The study implemented the first P-M NDBI in Zambia and aimed to train caregivers and improve children s social-communication skills. Methods/procedures: The current study utilized a mixed-methods, pre-post design and implemented Project ImPACT (Ingersoll & Dvortcsak, 2010, 2019). Participants included 19 Zambian caregivers of children (n = 20) with developmental differences including autism spectrum condition, Down syndrome, and cerebral palsy. Outcomes/results: Findings indicated that children s language skills and pretend play skills significantly improved from pre- to post-assessment, and caregivers most frequently used intervention strategies for modeling communication and prompting communication. Conclusions/implications: The success and feasibility of implementing Project ImPACT in Zambia, and recommendations for culturally adapting and implementing P-M NDBIs in LAMICs, were discussed.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Antibiotics for chronic pulmonary infection in children with a neurodisability (neurodevelopmental disorder)

REVISTA / JOURNAL:    - Cochrane Database Syst Rev. 2023 Feb 9;2(2):CD013813. doi: 10.1002/14651858.CD013813.pub2.

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AUTORES / AUTHORS: - Juliane Rf Sanner et al.

INSTITUCIÓN / INSTITUTION: - Department of Family Health, Nottingham University Hospitals NHS Trust, Nottingham, UK. 

RESUMEN / SUMMARY: - Background: Neurodisability refers to a group of conditions that result primarily from a neurological problem (e.g. cerebral palsy), neuromuscular problem (e.g. a muscular dystrophy) or developmental problems (e.g. developmental impairment, Down syndrome). Children and young people with these conditions may have similar problems with mobility, feeding and airway clearance. Chest and breathing problems (including pulmonary infections) are commonly experienced by children and young people with neurodisabilities and are often a cause for them requiring hospital care. For those who are unable to completely clear their airway of secretions, or have frequent infections, pulmonary infections may not be able to be completely eradicated and therefore become chronic. It is unclear what treatment is best for children and young people in this position. Objectives: To assess the effectiveness and adverse effects of antibiotic treatment for chronic pulmonary infection in children and young people living with a neurodisability, including quality-of-life measures, effects on hospitalisation and healthcare contacts. Search methods: We searched the Cochrane Airways Trials Register, Cochrane Acute Respiratory Infections Group Register of Trials (CARIGRT), Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (Ovid), Embase (Ovid), Cumulative Index to Nursing and Allied Health Literature (CINAHL), OpenGrey (www.opengrey.eu) and three trials registries up to 8 February 2022. Additionally, we identified related systematic reviews through Epistemonikos.org (8 February 2022) and searched reference lists of these. Selection criteria: All randomised controlled trials of antibiotic therapy for chronic pulmonary infection in children and young people up to the age of 18 living with a neurodisability were eligible. Data collection and analysis: Two independent review authors screened results of the searches against predetermined inclusion criteria, resolving any discrepancies by d

TÍTULO / TITLE:   - UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants

REVISTA / JOURNAL:    - Ital J Pediatr. 2023 Feb 10;49(1):19. doi: 10.1186/s13052-022-01392-6. Free PMC article

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AUTORES / AUTHORS: - Sara Manti et al

INSTITUCIÓN / INSTITUTION: - University of Messina, Messina, Italy 

RESUMEN / SUMMARY: - Bronchiolitis is an acute respiratory illness that is the leading cause of hospitalization in young children. This document aims to update the consensus document published in 2014 to provide guidance on the current best practices for managing bronchiolitis in infants. The document addresses care in both hospitals and primary care. The diagnosis of bronchiolitis is based on the clinical history and physical examination. The mainstays of management are largely supportive, consisting of fluid management and respiratory support. Evidence suggests no benefit with the use of salbutamol, glucocorticosteroids and antibiotics with potential risk of harm. Because of the lack of effective treatment, the reduction of morbidity must rely on preventive measures. De-implementation of non-evidence-based interventions is a major goal, and educational interventions for clinicians should be carried out to promote high-value care of infants with bronchiolitis. Well-prepared implementation strategies to standardize care and improve the quality of care are needed to promote adherence to guidelines and discourage non-evidence-based attitudes. In parallel, parents education will help reduce patient pressure and contribute to inappropriate prescriptions. Infants with pre-existing risk factors (i.e., prematurity, bronchopulmonary dysplasia, congenital heart diseases, immunodeficiency, neuromuscular diseases, cystic fibrosis, Down syndrome) present a significant risk of severe bronchiolitis and should be carefully assessed. This revised document, based on international and national scientific evidence, reinforces the current recommendations and integrates the recent advances for optimal care and prevention of acute bronchiolitis.

TÍTULO / TITLE:   - Residual OSA in Down syndrome: does body position matter?

REVISTA / JOURNAL:    - J Clin Sleep Med. 2023 Jan 1;19(1):171-177. doi: 10.5664/jcsm.10288.

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AUTORES / AUTHORS: - Taylor G Lackey et al

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology and Head and Neck Surgery, University of Colorado Denver, Aurora, Colorado. 

RESUMEN / SUMMARY: - Study objectives: To examine children with Down syndrome with residual obstructive sleep apnea (OSA) to determine if they are more likely to have positional OSA. Methods: A retrospective chart review of children with Down syndrome who underwent adenotonsillectomy at a single tertiary children s hospital was conducted. Children with Down syndrome who had a postoperative polysomnogram with obstructive apnea-hypopnea index (OAHI) > 1 event/h, following adenotonsillectomy with at least 60 minutes of total sleep time were included. Patients were categorized as mixed sleep (presence of ≥ 30 minutes of both nonsupine and supine sleep), nonsupine sleep, and supine sleep. Positional OSA was defined as an overall OAHI > 1 event/h and a supine OAHI to nonsupine OAHI ratio of ≥ 2. Group differences are tested via Kruskal-Wallis test for continuous variables and Fisher s exact tests for categorical. Results: There were 165 children with Down syndrome who met inclusion criteria, of which 130 individuals had mixed sleep. Patients who predominately slept supine had a greater OAHI than mixed and nonsupine sleep (P = .002). Sixty (46%) of the mixed-sleep individuals had positional OSA, of which 29 (48%) had moderate/severe OSA. Sleeping off their backs converted 14 (48%) of these 29 children from moderate/severe OSA to mild OSA. Conclusions: Sleep physicians and otolaryngologists should be cognizant that the OAHI may be an underestimate if it does not include supine sleep. Positional therapy is a potential treatment option for children with residual OSA following adenotonsillectomy and warrants further investigation.

TÍTULO / TITLE:   - The burden of sleep disordered breathing in infants with Down syndrome referred to tertiary sleep center

REVISTA / JOURNAL:    - Pediatr Pulmonol. 2023 Jan 1. doi: 10.1002/ppul.26302. Online ahead of print.

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AUTORES / AUTHORS: - Yeilim Cho et al

INSTITUCIÓN / INSTITUTION: - Sleep Center, University of Washington, Seattle, Washington, USA. 

RESUMEN / SUMMARY: - Introduction: Children with Down Syndrome (DS) are at high risk of sleep disordered breathing (SDB). We aimed to examine the burden of SDB in infants with DS referred to tertiary sleep center. Methods: Infants (≤12 months old) with DS who underwent consecutive polysomnography (PSG) at a single academic sleep center over a 6-year period were included. obstructive sleep apnea (OSA) (obstructive apnea hypopnea index [oAHI]>1/hr), central sleep apnea (central apnea index > 5/h) and the presence of hypoventilation (% time spent with CO2 > 50 mmHg either by end-tidal or transcutaneous> 25% of total sleep time) and hypoxemia (time spent with O2 saturation <88% >5 min) were ascertained. Results: A total of 40 infants were included (Mean age 6.6 months, male 66%). PSGs consisted of diagnostic (n = 13) and split night (n = 27, 68%) studies. All met criteria for OSA with mean oAHI 34.6/h (32.3). Central sleep apnea was present in 11 (27.5%) of infants. A total of 11 (27.5%) had hypoxemia. Hypoventilation was present in 10 (25%) infants. Conclusion: This study highlights the high prevalence of SDB in infants with DS referred to a sleep center, and supports early PSG assessment in this patient population.

TÍTULO / TITLE:   - Linguistic validation of a questionnaire for the screening of OSAS in a paediatric population with Down Syndrome

REVISTA / JOURNAL:    - Eur J Paediatr Dent. 2023 Jun;23(2):128-130. doi: 10.23804/ejpd.2022.23.02.09.

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AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: - Undergraduate student, Department of Neuroscience, School of Dentistry, University of Padua, Italy. 

RESUMEN / SUMMARY: - Aim: Obstructive sleep apnoea syndrome (OSAS) is a common clinical condition in which the throat narrows or collapses repeatedly during sleep, causing obstructive sleep apnoea events. This disorder is present in the paediatric population with a prevalence estimated between 1.2% and 5.8%. Down Syndrome (DS) is the most common chromosomal alteration associated with mental disability and characterised by other clinical manifestations, and its incidence is estimated at 1/800 births worldwide. Most of the craniofacial features typical of DS represent a risk factor for the development of OSAS. Routine screening has been recommended in some countries but it is still not a standard practice. The aim of this study is the Italian linguistic validation of a questionnaire for the diagnosis of OSAS in children with Down Syndrome. Methods: After careful review of the existing scientific literature, a specific questionnaire was selected for the diagnosis of OSAS in children with DS. The questionnaire was then translated into Italian and administered to 111 parents of children with Down syndrome, for online completion. The last part of the questionnaire was dedicated to the comprehension of the questionnaire itself, with a specific focus on its clarity, accuracy and difficulty in completing it. Conclusion: The positive feedback registered in the comprehension part of the questionnaire, certified the good quality of the Italian translation and confirmed the questionnaire as a useful screening method to identify the comorbidity of OSAS and DS.

TÍTULO / TITLE:   - Sleep Apnea in Children With Down Syndrome

REVISTA / JOURNAL:    - Pediatrics. 2023 Feb 10;e2022058771. doi: 10.1542/peds.2022-058771. Online ahead of print.

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AUTORES / AUTHORS: - Katelyn Seither et al.

INSTITUCIÓN / INSTITUTION: - Division of Neonatal-Perinatal Medicine, Indiana University School of Medicine, Indianapolis, Indiana 

RESUMEN / SUMMARY: - Objective: The authors of this study aimed to evaluate the use of polysomnography (PSG) in children with Down syndrome (DS) between ages 0 and 7 years, to assess the prevalence and severity of obstructive sleep apnea (OSA) and associated comorbidities, and to describe interventions used for OSA. Methods: A retrospective cohort study was performed at Cincinnati Children s Hospital Medical Center for children with DS born between 2013 and 2019. Data were extracted from the electronic medical record, including demographics, age at PSG, PSG results, and interventions after an abnormal PSG. Statistical analysis included unadjusted bivariate association testing and multivariable logistic regression modeling to investigate associations with OSA severity. Results: Among 397 patients in the cohort, 59% (n = 235) had a documented PSG and 94% (n = 221) had an abnormal study with 60% (n = 141) demonstrating moderate or severe OSA. There was an inverse relationship between age and OSA severity (P < .001). In a multiple regression model, OSA severity was associated with increased rates of failure to thrive (P < .01), aspiration (P = .02), and laryngomalacia (P < .01). After medical or surgical intervention, 73% of patients experienced the resolution of OSA or an improvement in OSA severity. Conclusion: In this study of pediatric patients with DS, OSA was identified most frequently in the first year of life. In addition, to prompt evaluation of symptomatic infants, our data support earlier PSG screening for patients requiring neonatal ICU care and those with feeding difficulties, airway abnormalities, and/or pulmonary hypertension given their increased risk for severe OSA.

TÍTULO / TITLE:   - Expert Consensus Statement: Management of Pediatric Persistent Obstructive Sleep Apnea After Adenotonsillectomy

REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2023 Feb;168(2):115-130. doi: 10.1002/ohn.159.

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AUTORES / AUTHORS: - Stacey L Ishman et al

INSTITUCIÓN / INSTITUTION: - University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. 

RESUMEN / SUMMARY: - Objective: To develop an expert consensus statement regarding persistent pediatric obstructive sleep apnea (OSA) focused on quality improvement and clarification of controversies. Persistent OSA was defined as OSA after adenotonsillectomy or OSA after tonsillectomy when adenoids are not enlarged. Methods: An expert panel of clinicians, nominated by stakeholder organizations, used the published consensus statement methodology from the American Academy of Otolaryngology-Head and Neck Surgery to develop statements for a target population of children aged 2-18 years. A medical librarian systematically searched the literature used as a basis for the clinical statements. A modified Delphi method was used to distill expert opinion and compose statements that met a standardized definition of consensus. Duplicate statements were combined prior to the final Delphi survey. Results: After 3 iterative Delphi surveys, 34 statements met the criteria for consensus, while 18 statements did not. The clinical statements were grouped into 7 categories: general, patient assessment, management of patients with obesity, medical management, drug-induced sleep endoscopy, surgical management, and postoperative care. Conclusion: The panel reached a consensus for 34 statements related to the assessment, management and postoperative care of children with persistent OSA. These statements can be used to establish care algorithms, improve clinical care, and identify areas that would benefit from future research.

TÍTULO / TITLE:   - Polysomnographic characteristics and treatment modalities in a referred population of children with trisomy 21

REVISTA / JOURNAL:    - Front Pediatr. 2023 Jan 10;10:1109011. doi: 10.3389/fped.2022.1109011. eCollection 2022.

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AUTORES / AUTHORS: - Kaelyn Gaza et al.

INSTITUCIÓN / INSTITUTION: - Division of Pulmonology and Sleep Medicine, Nemours Children s Hospital, Wilmington, DE, United States 

RESUMEN / SUMMARY: - Background: Children with Trisomy 21 (T21) are at an increased risk of sleep-disordered breathing (SDB), which can impact daily functioning and cause other health complications. Accordingly, it is imperative to diagnose and treat SDB in this population. Current guidelines recommend screening polysomnogram by age 4 or sooner if clinically indicated. There are limited published studies describing characteristics of SDB in children with T21, particularly in infants and young children. Objective: The objective of this study is to characterize SDB and treatment modalities in infants and young children with T21. Methods: This is a retrospective review of a cohort of children (≤60 months of age) with T21 who completed a polysomnogram (PSG) between 2015 and 2020 at a pediatric referral center. Demographic information, relevant medical history, polysomnography parameters, and treatment details of these children were collected from EMR. Descriptive and comparative statistics were calculated for the cohort; additional subgroup analysis was completed by age 0-35 months and 36-60 months. Results: Most of the cohort met criteria for sleep apnea (84.1%), and airway surgery was the most common treatment modality (71.4%). The mean AHI was high (21.4 events/hour) with a trend towards hypoventilation (mean EtCO2 = 55.9 mmHg; mean percentage of TST with EtCO2 > 50 mmHg 20.8%). Mean arousal index was elevated (32 events/hour). There were no significant differences in SDB by age when we compared children 0-35 months and 36-60 months. Conclusions: This cohort of referred children with T21 showed high prevalence of SDB with a trend towards hypoventilation and disrupted sleep quality with no significant differences by age. These data highlight the importance of maintaining a high index of suspicion for SDB in young patients with T21 and obtaining PSG testing to characterize sleep and breathing.

Surgery - Cirugía

TÍTULO / TITLE:   - Decannulation in Trisomy 21 patients undergoing laryngotracheal reconstruction

REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2023 Jan;164:111407. doi: 10.1016/j.ijporl.2022.111407. Epub 2022 D

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AUTORES / AUTHORS: - Daniel Blumenthal et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology and Head and Neck Surgery Residency, Medstar Georgetown University Hospital, Washington, DC, USA. 

RESUMEN / SUMMARY: - Background: Down Syndrome (DS) patients are more susceptible to either congenital or acquired subglottic stenosis (SGS). This often creates a multilevel airway obstruction and can lead to tracheostomy dependence early in life. As a result, they may require Laryngotracheal Reconstruction (LTR) to achieve decannulation. The primary objective of this study was to assess decannulation rates, time to decannulation and potential barriers to decannulation in DS patients undergoing LTR. Methods: We performed a retrospective chart review from 2008 to 2021 of 193 children who underwent LTR for treatment for laryngotracheal stenosis at a stand-alone tertiary children s hospital. The relationship between clinical data and decannulation status was evaluated using multivariable logistic regression and Fisher exact tests. Time to decannulation analysis was performed using Kaplan Meier analysis and evaluated with log-rank and Cox proportional hazards regression. Results: We determined that DS patients carry an inherit risk for decannulation failure compared to the general population (OR: 6.112, P = . 044, CI 1.046-35.730). Of the 8 patients with DS only three were decannulated. Overall, patients with Trisomy 21 had a significantly increased time to decannulation when compared to all LTR patients (P = .008, Log-rank). We found that these patients are more likely to have both suprastomal collapse (P = .0004, Fischer s Exact) and Tracheomalacia (P = .034, Fischer s Exact) compared to all other LTR patients. While post-operative tracheomalacia did not significantly affect decannulation failure (P = .056, Fischer s Exact) it did significantly prolong decannulation in all LTR patients (P = .018, Log-rank). Conclusion: Trisomy 21 patients are at an increased risk for decannulation failure. Our study illustrates that these poor outcomes are likely a result of conditions more commonly found in this cohort including: narrow tracheal caliber, tracheomalacia and hypotonia.

TÍTULO / TITLE:   - Foregut duplication cyst associated with esophageal atresia and tracheoesophageal fistula: a case report and literature review

REVISTA / JOURNAL:    - J Pediatr Surg. 2013 May;48(5):E5-7. doi: 10.1016/j.jpedsurg.2013.02.071

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AUTORES / AUTHORS: - J Leslie Knod et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric General and Thoracic Surgery, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC-2023, Cincinnati, Ohio 45229, USA. 

RESUMEN / SUMMARY: - A case of esophageal atresia associated with a foregut duplication cyst is reported and the literature reviewed. This is the first documented occurrence in conjunction with Down syndrome and the second case where both anomalies were treated at the initial surgery.

TÍTULO / TITLE:   - Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia

REVISTA / JOURNAL:    - Pediatr Surg Int. 2023 Jan 18;39(1):84. doi: 10.1007/s00383-022-05359-w.

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AUTORES / AUTHORS: - Anna Zrinyi et al.

INSTITUCIÓN / INSTITUTION: - Department of Surgery, Division of Pediatric Surgery, University of Manitoba, and Children s Hospital Research Institute of Manitoba, AE402-820 Sherbrook Street, Winnipeg, MB, R3A 1S1, Canada 

RESUMEN / SUMMARY: - Purpose: We aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA). Methods: We identified children born with DA between 1991 and 2017. Cases were divided into DA with T21 and DA without T21. Ten healthy controls per case were included. Esophageal, ulcerative, obstructive and stomach complaints were assessed. Risk ratios (RR), rate ratios (RaR) and Cox models were constructed. Analyses were performed for cases versus controls, and for T21 cases versus non-T21 cases. Results: DA cases totaled 52: 22 had T21 and 30 did not. There were 520 controls. DA cases had more gastrointestinal complaints than controls. T21 cases were at greater risk and frequency of esophageal disease than non-T21 cases (RR = 4.08, p = 0.002, RaR = 69.8, p < 0.001). T21 and non-T21 cases were equally likely to present with obstruction (RR = 0.91, p = 1), but T21 cases complained of obstructive symptoms less (RaR = 0.57, p = 0.003). T21 and non-T21 cases had the same risk of stomach diseases, but T21 cases complained more frequently (RaR = 6.20, p < 0.001). Cox models supported these observations. T21 did not affect ulcerative diseases. Conclusion: DA cases had more gastrointestinal problems than controls. T21 increased esophageal and gastric complaints in DA cases but did not affect ulcerative and obstructive complaints.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - State-of-the-art therapy for Down syndrome

REVISTA / JOURNAL:    - Dev Med Child Neurol. 2023 Jan 24.

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AUTORES / AUTHORS: - Nicola Lorenzon , Juanluis Musoles-Lleo, Federica Turrisi, Maria Gomis-Gonzalez, Rafael De La Torre, Mara Dierssen

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

RESUMEN / SUMMARY: - In the last decade, an important effort was made in the field of Down syndrome to find new interventions that improve cognition. These therapies have added to the traditional symptomatic treatments and to the drugs for treating Alzheimer disease in the general population repurposed for Down syndrome. Defining next-generation therapeutics will involve biomarker-based therapeutic decision-making, and preventive and multimodal interventions. However, translation of specific findings into effective therapeutic strategies has been disappointingly slow and has failed in many cases at the clinical level, leading to reduced credibility of mouse studies. This is aggravated by a tendency to favour large-magnitude effects and highly significant findings, leading to high expectations but also to a biased view of the complex pathophysiology of Down syndrome. Here, we review some of the most recent and promising strategies for ameliorating the cognitive state of individuals with Down syndrome. We studied the landscape of preclinical and clinical studies and conducted a thorough literature search on PubMed and ClinicalTrials.gov for articles published between June 2012 and August 2022 on therapies for ameliorating cognitive function in individuals with Down syndrome. We critically assess current therapeutic approaches, why therapies fail in clinical trials in Down syndrome, and what could be the path forward. We discuss some intrinsic difficulties for translational research, and the need for a framework that improves the detection of drug efficacy to avoid discarding compounds too early from the companies pipelines.

TÍTULO / TITLE:   - DYRK1A Inhibitors and Perspectives for the Treatment of Alzheimers Disease

REVISTA / JOURNAL:    - Curr Med Chem . 2023;30(6):669-688.

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AUTORES / AUTHORS: - Marcia Maria de Souza et al

INSTITUCIÓN / INSTITUTION: - School of Health Sciences, Graduate Program in Pharmaceutical Sciences, UNIVALI, Rua Uruguai, 458 F6 lab 206 Campus I, Centro, Itajai, SC, 88302-202, Brazil 

RESUMEN / SUMMARY: - Background: Alzheimers disease (AD) is a chronic neurodegenerative disease and the most common form of dementia, especially in the elderly. Due to the increase in life expectancy, in recent years, there has been an excessive growth in the number of people affected by this disease, causing serious problems for health systems. In recent years, research has been intensified to find new therapeutic approaches that prevent the progression of the disease. In this sense, recent studies indicate that the dual-specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A) gene, which is located on chromosome 21q22.2 and overexpressed in Down syndrome (DS), may play a significant role in developmental brain disorders and early onset neurodegeneration, neuronal loss and dementia in DS and AD. Inhibiting DYRK1A may serve to stop the phenotypic effects of its overexpression and, therefore, is a potential treatment strategy for the prevention of age associated neurodegeneration, including Alzheimer-type pathology. Objective: In this review, we investigate the contribution of DYRK1A inhibitors as potential anti-AD agents. Methods: A search in the literature to compile an in vitro dataset including IC50 values involving DYRK1A was performed from 2014 to the present day. In addition, we carried out structure-activity relationship studies based on in vitro and in silico data. Results: molecular modeling and enzyme kinetics studies indicate that DYRK1A may contribute to AD pathology through its proteolytic process, reducing its kinase specificity. Conclusion: further evaluation of DYRK1A inhibitors may contribute to new therapeutic approaches for AD.

TÍTULO / TITLE:   - Case report: Ketogenic diet acutely improves cognitive function in patient with Down syndrome and Alzheimers disease

REVISTA / JOURNAL:    - Front Psychiatry. 2023 Jan 9;13:1085512. doi: 10.3389/fpsyt.2022.1085512. eCollection 2022. Free PM

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AUTORES / AUTHORS: - Annette Bosworth et al

INSTITUCIÓN / INSTITUTION: - Meaningful Medicine, Tampa, FL, United States. 

RESUMEN / SUMMARY: - Ketogenic diets have a century-long history as a therapeutic tool to treat intractable epilepsy. Recently, a renewed interest in neuroketotherapeutics has arisen, with ketogenic diets being explored for the treatment of neurodegenerative diseases such as Alzheimers disease and Parkinson s disease, as well as mental health conditions. Herein, we present a case report of a 47-year-old woman with Down syndrome diagnosed with Alzheimers disease and absence seizures with accelerated cognitive decline over 6 years. A ketogenic diet restored her cognitive function over 6 weeks, with an increase in Activities of Daily Living Scale score from 34 to 58. A therapeutic ketogenic diet was associated with significant cognitive improvement in this patient with concurrent Down syndrome and dementia.

TÍTULO / TITLE:   - One-year prediction of cognitive decline following cognitive-stimulation from real-world data

REVISTA / JOURNAL:    - J Neuropsychol. 2023 Feb 1. doi: 10.1111/jnp.12307. Online ahead of print.

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AUTORES / AUTHORS: - Borja Camino-Pontes et al

INSTITUCIÓN / INSTITUTION: - Biocruces-Bizkaia Health Research Institute, Barakaldo, Spain 

RESUMEN / SUMMARY: - Clinical evidence based on real-world data (RWD) is accumulating exponentially providing larger sample sizes available, which demand novel methods to deal with the enhanced heterogeneity of the data. Here, we used RWD to assess the prediction of cognitive decline in a large heterogeneous sample of participants being enrolled with cognitive stimulation, a phenomenon that is of great interest to clinicians but that is riddled with difficulties and limitations. More precisely, from a multitude of neuropsychological Training Materials (TMs), we asked whether was possible to accurately predict an individual s cognitive decline one year after being tested. In particular, we performed longitudinal modelling of the scores obtained from 215 different tests, grouped into 29 cognitive domains, a total of 124,610 instances from 7902 participants (40% male, 46% female, 14% not indicated), each performing an average of 16 tests. Employing a machine learning approach based on ROC analysis and cross-validation techniques to overcome overfitting, we show that different TMs belonging to several cognitive domains can accurately predict cognitive decline, while other domains perform poorly, suggesting that the ability to predict decline one year later is not specific to any particular domain, but is rather widely distributed across domains. Moreover, when addressing the same problem between individuals with a common diagnosed label, we found that some domains had more accurate classification for conditions such as Parkinson s disease and Down syndrome, whereas they are less accurate for Alzheimers disease or multiple sclerosis. Future research should combine similar approaches to ours with standard neuropsychological measurements to enhance interpretability and the possibility of generalizing across different cohorts.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE:   - Urology case report: Multifactorial bladder dysfunction in the setting of down syndrome

REVISTA / JOURNAL:    - Urol Case Rep. 2022 Dec 6;46:102294. doi: 10.1016/j.eucr.2022.102294. eCollection 2023 Jan. Free PM

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AUTORES / AUTHORS: - Yusuke Matsuura et al

INSTITUCIÓN / INSTITUTION: - Icahn School of Mount Sinai, 1468 Madison Ave, New York, NY, 10029, USA. 

RESUMEN / SUMMARY: - A 16-year-old male patient with Down syndrome diagnosed with AKI and urinary tract infection was treated with meropenem for ESBL-positive E. coli in urine culture. Persistently elevated creatinine and persistent post-void residual (PVR) of >300 mL led to further testing, which revealed urethral stricture and a lower sacral Tarlov cyst. Due to no complete improvement with urethral dilatation, he underwent laminectomy and Tarlov cyst fenestration. Creatinine normalized, with increased urine output and robust flow. Due to a PVR of >100 mL, he received behavioral therapy, including sitting and timed voiding, and the PVR was reduced to <5 mL.

Education - Educación

TÍTULO / TITLE:   - Health Outcomes of Physical Activity Interventions in Adults With Down Syndrome: A Systematic Review

REVISTA / JOURNAL:    - Adapt Phys Activ Q. 2023 Jan 1;1-25. doi: 10.1123/apaq.2022-0102. Online ahead of print.

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AUTORES / AUTHORS: - Brantley K Ballenger

INSTITUCIÓN / INSTITUTION: - Mississippi State University, Mississippi State, MS,USA. 

RESUMEN / SUMMARY: - This systematic review examined whether physical activity interventions improve health outcomes in adults with Down syndrome (DS). We searched PubMed, APA PsycInfo, SPORTDiscus, APA PsycARTICLES, and Psychology and Behavioral Sciences Collection using keywords related to DS and physical activity. We included 35 studies published in English since January 1, 1990. Modes of exercise training programs included aerobic exercise, strength training, combined aerobic and strength training, aquatic, sport and gaming, and aerobic and strength exercise interventions combined with health education. The evidence base indicates that aerobic and strength exercise training improve physical fitness variables including maximal oxygen uptake, maximal heart rate, upper and lower body strength, body weight, and body fat percentage. Sport and gaming interventions improve functional mobility, work task performance, and sport skill performance. We concluded that adults with DS can accrue health benefits from properly designed physical activity and exercise interventions.

TÍTULO / TITLE:   - Profiles and trajectories of executive functioning in young children with Down syndrome

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2023 Jan 15. doi: 10.1111/jir.13008. Online ahead of print.

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AUTORES / AUTHORS: - A Dimachkie Nunnally et al

INSTITUCIÓN / INSTITUTION: - M.I.N.D Institute, University of California, Davis, CA, USA. 

RESUMEN / SUMMARY: - Background: Language acquisition strongly predicts executive functioning (EF) in early childhood in typical development and in children with Down syndrome (DS). Both language and EF are critical contributors to later positive social and academic outcomes yet are often areas of concern in children with DS. Despite the wider availability of interventions targeting language development in DS, no efforts have been made to understand how these interventions may influence the development of EF in this population. Methods: This study examined secondary data from 76 preschoolers with DS collected as part of a randomised waitlist control trial of an early social communication intervention (JASPER-EMT). Children s EF skills were measured using the BRIEF-P, at three timepoints over 6 months. Linear regression was used to examine the baseline relationship between child characteristics and the three indices of the BRIEF-P: Emergent Metacognition, Flexibility and Inhibitory Self-Control. Linear mixed effects models were used to estimate change across the three indices of the BRIEF-P and whether that change was moderated by treatment. Results: Children in this sample exhibited an uneven profile of EF at baseline, with relative strengths in the Flexibility Index and the Inhibitory Self-Control Index, and relative weaknesses in the Emerging Metacognition Index. Chronological age was associated with all indices at baseline (all P < 0.05). Children in the intervention group exhibited improvements in the Flexibility Index from entry to exit (3 months later) compared with the control, although this treatment effect did not maintain at the follow up at 6 months. Conclusions: Baseline EF profiles of children were consistent with findings of other studies with children with DS. Longitudinal findings suggest that behavioural interventions targeting language may have positive collateral effects on certain EF skills, however these effects may be transitory without ongoing support. These findi

TÍTULO / TITLE:   - Factors That Influence Physical Activity in Individuals With Down Syndrome: Perspectives of Guardians and Health Professionals

REVISTA / JOURNAL:    - Adapt Phys Activ Q. 2023 Feb 8;1-20. doi: 10.1123/apaq.2022-0103. Online ahead of print.

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AUTORES / AUTHORS: - Emma E Schultz et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Identifying factors that influence physical activity (PA) among individuals with Down syndrome is essential for PA promotion. Insight can be gained from guardians and health professionals. The purpose of this study was to explore the perspectives of guardians and health professionals on facilitators and barriers of PA in individuals with Down syndrome. Interviews were conducted with 11 guardians (five mothers, four fathers, and two legal guardians) and 11 professionals (four PA specialists, three physical therapists, and four occupational therapists). Grounded theory was applied. Barriers and facilitators fit the levels of the ecological model of health behavior: (a) intrapersonal (perceived rewards), (b) interpersonal (interaction), (c) community (availability of programs), (d) organizational (school systems), and (e) policy (education). Guardians and professionals agreed on the importance of enjoyment, interaction, and programs to promote PA. Differences between groups were identified at the organizational and policy levels. PA in persons with Down syndrome is influenced by interactions between individual and environmental factors.

TÍTULO / TITLE:   - The Effectiveness of Computer Aided Video Modeling in Teaching Basic Basketball Movements to Individuals with Down Syndrome

REVISTA / JOURNAL:    - Children (Basel). 2023 Jan 12;10(1):153. doi: 10.3390/children10010153. Free PMC article

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AUTORES / AUTHORS: - Aslan Aydogan , Mukaddes Sakalli Demirok

INSTITUCIÓN / INSTITUTION: - Special Education Department, Atatürk Education Faculty, Near East University, Nicosia 99138, Cyprus 

RESUMEN / SUMMARY: - In this study, the effectiveness of the video modeling method in teaching basic basketball skills to students with Down syndrome was examined. Four students with Down syndrome, who were studying at the disability free living center in Dolayaba, participated in this study. The ages of the students diagnosed with Down syndrome were as follows: two of them were 13, the others were 14 and 16. In the study, the effectiveness of video modeling in teaching basic basketball skills was evaluated using the multiple probe model, one of the single-subject research methods. The experimental process of the study consisted of collecting baseline data, daily, conducting instructional sessions, maintenance and generalization stages. The findings of the study showed that video modeling was effective in teaching basic basketball skills to students with Down syndrome and that they maintained the skills in interpersonal and environmental differences after the end of the instruction. When the opinions of the basketball teacher and the students were evaluated, it was determined that the students self-confidence and peer relations were strengthened thanks to their active participation in the lessons. The students were not bored because they stated that they found the lessons interesting and fun.

TÍTULO / TITLE:   - Teleintervention for users of augmentative and alternative communication devices: A systematic review

REVISTA / JOURNAL:    - Dev Med Child Neurol. 2023 Feb;65(2):171-184. doi: 10.1111/dmcn.15387. Epub 2022 Aug 31.

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AUTORES / AUTHORS: - Saranda Bekteshi et al

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation Sciences, Research Group for Neurorehabilitation, KU Leuven, Bruges, Belgium. 

RESUMEN / SUMMARY: - Aim: To synthesize existing evidence on the effectiveness of speech-language teleinterventions delivered via videoconferencing to users of augmentative and alternative communication (AAC) devices. Method: A systematic literature search was conducted in 10 electronic databases, from inception until August 2021. Included were speech-language teleinterventions delivered by researchers and/or clinicians via videoconferencing to users of AAC devices, without restrictions on chronological age and clinical diagnosis. The quality of the studies included in the review was appraised using the Downs and Black checklist and the Single-Case Experimental Design Scale; risk of bias was assessed using the Risk Of Bias In Non-Randomized Studies - of Interventions and the single-case design risk of bias tools. Results: Six teleinterventions including 25 participants with a variety of conditions, such as Down syndrome, autism, Rett syndrome, and amyotrophic lateral sclerosis met the inclusion criteria. Five studies used a single-case experimental design and one was a cohort study. Teleinterventions included active consultation (n = 2), functional communication training (n = 2), brain-computer interface (n = 1), and both teleintervention and in-person intervention (n = 1). All teleinterventions reported an increase in participants independent use of AAC devices during the training sessions compared to baseline, as well as an overall high satisfaction and treatment acceptability. Interpretation: Speech-language teleinterventions for users of AAC devices show great potential for a successful method of service delivery. Future telehealth studies with larger sample sizes and more robust methodology are strongly encouraged to allow the generalization of results across different populations. What this paper adds: Individuals can learn to use augmentative and alternative communication (AAC) devices independently during tele-AAC interventions. Service providers and recipients reported an ove

TÍTULO / TITLE:   - One-year prediction of cognitive decline following cognitive-stimulation from real-world data

REVISTA / JOURNAL:    - J Neuropsychol. 2023 Feb 1. doi: 10.1111/jnp.12307. Online ahead of print.

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AUTORES / AUTHORS: - Borja Camino-Pontes et al.

INSTITUCIÓN / INSTITUTION: - Biocruces-Bizkaia Health Research Institute, Barakaldo, Spain. 

RESUMEN / SUMMARY: - Clinical evidence based on real-world data (RWD) is accumulating exponentially providing larger sample sizes available, which demand novel methods to deal with the enhanced heterogeneity of the data. Here, we used RWD to assess the prediction of cognitive decline in a large heterogeneous sample of participants being enrolled with cognitive stimulation, a phenomenon that is of great interest to clinicians but that is riddled with difficulties and limitations. More precisely, from a multitude of neuropsychological Training Materials (TMs), we asked whether was possible to accurately predict an individual s cognitive decline one year after being tested. In particular, we performed longitudinal modelling of the scores obtained from 215 different tests, grouped into 29 cognitive domains, a total of 124,610 instances from 7902 participants (40% male, 46% female, 14% not indicated), each performing an average of 16 tests. Employing a machine learning approach based on ROC analysis and cross-validation techniques to overcome overfitting, we show that different TMs belonging to several cognitive domains can accurately predict cognitive decline, while other domains perform poorly, suggesting that the ability to predict decline one year later is not specific to any particular domain, but is rather widely distributed across domains. Moreover, when addressing the same problem between individuals with a common diagnosed label, we found that some domains had more accurate classification for conditions such as Parkinson s disease and Down syndrome, whereas they are less accurate for Alzheimers disease or multiple sclerosis. Future research should combine similar approaches to ours with standard neuropsychological measurements to enhance interpretability and the possibility of generalizing across different cohorts.