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Septiembre - Octubre 2021
September - October 2021


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Aging - Envejecimiento

TÍTULO / TITLE:   - VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome

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REVISTA / JOURNAL:    - Alzheimers Res Ther. 2021 Jun 28;13(1):119

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AUTORES / AUTHORS: - Alberto Lle et al

INSTITUCIÓN / INSTITUTION: - Memory Unit and Biomedical Research Institute Sant Pau (IIB Sant Pau), Neurology Department, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, c/Sant Quint , 77-79, 08025, Barcelona, Spain. 

RESUMEN / SUMMARY: - There is an urgent need for objective markers of Alzheimer s disease (AD)-related cognitive impairment in people with Down syndrome (DS) to improve diagnosis, monitor disease progression, and assess response to disease-modifying therapies. Previously, GluA4 and neuronal pentraxin 2 (NPTX2) showed limited potential as cerebrospinal fluid (CSF) markers of cognitive impairment in adults with DS. Here, we compare the CSF profile of a panel of synaptic proteins (Calsyntenin-1, Neuroligin-2, Neurexin-2A, Neurexin-3A, Syntaxin-1B, Thy-1, VAMP-2) to that of NPTX2 and GluA4 in a large cohort of subjects with DS across the preclinical and clinical AD continuum and explore their correlation with cognitive impairment. Methods:�We quantified the synaptic panel proteins by selected reaction monitoring in CSF from 20 non-trisomic cognitively normal controls (mean age 44) and 80 adults with DS grouped according to clinical AD diagnosis (asymptomatic, prodromal AD or AD dementia). We used regression analyses to determine CSF changes across the AD continuum and explored correlations with age, global cognitive performance (CAMCOG), episodic memory (modified cued-recall test; mCRT) and CSF biomarkers, CSF Aβ42:40 ratio, CSF Aβ1-42, CSF p-tau, and CSF NFL. P values were adjusted for multiple testing. Results:In adults with DS, VAMP-2 was the only synaptic protein to correlate with episodic memory (delayed recall adj.p = .04) and age (adj.p = .0008) and was the best correlate of CSF Aβ42:40(adj.p = .0001), p-tau (adj.p < .0001), and NFL (adj.p < .0001). Compared to controls, mean VAMP-2 levels were lower in asymptomatic adults with DS only (adj.p = .02). CSF levels of Neurexin-3A, Thy-1, Neurexin-2A, Calysntenin-1, Neuroligin-2, GluA4, and Syntaxin-1B all strongly correlated with NPTX2 (p < .0001), which was the only synaptic protein to show reduced CSF levels in DS at all AD stages compared to controls (adj.p < .002). Conclusion:These data show proof-of-concept for CSF

TÍTULO / TITLE:   - The French translation of the dementia screening questionnaire for individuals with intellectual disabilities is a sensitive tool for screening for dementia in people with Down Syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2021 Nov;118:104068. doi: 10.1016/j.ridd.2021.104068. Epub 2021 Aug 28.

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AUTORES / AUTHORS: - Anne-Sophie Rebillat et al

INSTITUCIÓN / INSTITUTION: - Institut Jerome Lejeune, Paris, France. annesophie.rebillat@institutlejeune.org.  

RESUMEN / SUMMARY: - People with Down Syndrome (DS) are at an increased risk of developing Alzheimer s Disease (AD) relatively early in life. The dementia screening questionnaire for individuals with intellectual disabilities (DSQIID) has been developed for people with intellectual disabilities and was shown to have high discriminative power to distinguish between people with and without dementia. The objective of this study was to verify if the French version of the DSQIID (DSQIID-F) had a good diagnostic specificity and to determine the optimal cut-off for screening people with DS for dementia. Method:This was a single-centre, retrospective, medical chart review study in people with DS aged ≥40 years. Demographics, level of intellectual disability, DSQIID-F data and clinical assessment of dementia were extracted from medical records. Sensitivity and specificity for different DSQIID-F cut-offs were calculated to determine the optimal cut-off. Results: 151 people with DS were included with a median age of 51 years. The optimal DSQIID-F cut-off was 19, sensitivity was 0.940 (95 % CI: 0.830; 0.985) and specificity was 0.941 (95 % CI: 0.873; 0.975). Results were comparable to those for the English DSQIID (cut-off: 20; sensitivity: 0.92; specificity: 0.97). However, the psychometric qualities of the DSQIID-F, used for clinical follow-up, have not been verified. Conclusions: The DSQIID-F has good discriminative power and represents a useful tool to screen people with DS for dementia.

TÍTULO / TITLE:   - Dementia in people with severe or profound intellectual (and multiple) disabilities: Focus group research into relevance, symptoms and training needs

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil.2021 Jul 2. doi: 10.1111/jar.12912.Online ahead of print.

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AUTORES / AUTHORS: - Alain D Dekkeret al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Alzheimer Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 

RESUMEN / SUMMARY: - Differentiating dementia from baseline level of functioning is difficult among people with severe/profound intellectual (and multiple) disabilities. Moreover, studies on observable dementia symptoms are scarce. This study examined (a) the relevance of dementia diagnosis, (b) observable symptoms and (c) training/information needs. Methods:Four explorative focus groups were held with care professionals and family members who have experience with people with severe/profound intellectual (and multiple) disabilities (≥40 years) and decline/dementia. Results:Thematic analysis showed that participants wanted to know about a dementia diagnosis for a better understanding and to be able to make informed choices (question 1). Using a categorisation matrix, cognitive and behavioural changes were shown to be most prominent (question 2). Participants indicated that they needed enhanced training, more knowledge development and translation, and supportive organisational choices/policies (question 3). Conclusions:Timely identifying/diagnosing dementia allows for a timely response to changing needs. This requires a better understanding of symptoms.

TÍTULO / TITLE:   - Protein phosphatase PPM1B inhibits DYRK1A kinase through dephosphorylation of pS258 and reduces toxic tau aggregation

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REVISTA / JOURNAL:    - J Biol Chem.Jan-Jun 2021;296:100245. Free PMC article doi: 10.1074/jbc.RA120.015574. Epub 2021 Jan

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AUTORES / AUTHORS: - Ye Hyung Lee et al

INSTITUCIÓN / INSTITUTION: - Department of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Korea. 

RESUMEN / SUMMARY: - Down syndrome (DS) is mainly caused by an extra copy of chromosome 21 (trisomy 21), and patients display a variety of developmental symptoms, including characteristic facial features, physical growth delay, intellectual disability, and neurodegeneration (i.e., Alzheimer s disease; AD). One of the pathological hallmarks of AD is insoluble deposits of neurofibrillary tangles (NFTs) that consist of hyperphosphorylated tau. The human DYRK1A gene is mapped to chromosome 21, and the protein is associated with the formation of inclusion bodies in AD. For example, DYRK1A directly phosphorylates multiple serine and threonine residues of tau, including Thr212. However, the mechanism underpinning DYRK1A involvement in Trisomy 21-related pathological tau aggregation remains unknown. Here, we explored a novel regulatory mechanism of DYRK1A and subsequent tau pathology through a phosphatase. Using LC-MS/MS technology, we analyzed multiple DYRK1A-binding proteins, including PPM1B, a member of the PP2C family of Ser/Thr protein phosphatases, in HEK293 cells. We found that PPM1B dephosphorylates DYRK1A at Ser258, contributing to the inhibition of DYRK1A activity. Moreover, PPM1B-mediated dephosphorylation of DYRK1A reduced tau phosphorylation at Thr212, leading to inhibition of toxic tau oligomerization and aggregation. In conclusion, our study demonstrates that DYRK1A autophosphorylates Ser258, the dephosphorylation target of PPM1B, and PPM1B negatively regulates DYRK1A activity. This finding also suggests that PPM1B reduces the toxic formation of phospho-tau protein via DYRK1A modulation, possibly providing a novel cellular protective mechanism to regulate toxic tau-mediated neuropathology in AD of DS.

TÍTULO / TITLE:   - Neurofibrillary tau depositions emerge with subthreshold cerebral beta-amyloidosis in Down syndrome

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REVISTA / JOURNAL:    - Neuroimage Clin.2021;31:102740. doi: 10.1016/j.nicl.2021.102740.Epub 2021 Jun 24. Free PMC articl

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AUTORES / AUTHORS: - Matthew D Zammit et al.

INSTITUCIÓN / INSTITUTION: - University of Wisconsin-Madison Waisman Center, Madison, WI, USA; University of Wisconsin-Madison Department of Medical Physics, Madison, WI, USA.  

RESUMEN / SUMMARY: - Adults with Down syndrome are genetically predisposed to develop Alzheimer s disease and accumulate beta-amyloid plaques (Aβ) early in life. While Aβ has been heavily studied in Down syndrome, its relationship with neurofibrillary tau is less understood. The aim of this study was to evaluate neurofibrillary tau deposition in individuals with Down syndrome with varying levels of Aβ burden. Methods: A total of 161 adults with Down syndrome (mean age = 39.2 (8.50) years) and 40 healthy, non-Down syndrome sibling controls (43.2 (12.6) years) underwent T1w-MRI, [C-11]PiB and [F-18]AV-1451 PET scans. PET images were converted to units of standardized uptake value ratios (SUVrs). Aβ burden was calculated using the amyloid load metric (AβL); a measure of global Aβ burden that improves quantification from SUVrs by suppressing the nonspecific binding signal component and computing the specific Aβ signal from all Aβ-carrying voxels from the image. Regional tau was assessed using control-standardized AV-1451 SUVr. Control-standardized SUVrs were compared across Down syndrome groups of Aβ-negative (A-) (AβL < 13.3), subthreshold A+ (13.3 ≤ AβL < 20) and conventionally A+ (AβL ≥ 20) individuals. The subthreshold A + group was identified as having significantly higher Aβ burden compared to the A- group, but not high enough to satisfy a conventional A + classification. Results: A large-sized association that survived adjustment for chronological age, mental age (assessed using the Peabody Picture Vocabulary Test), and imaging site was observed between AβL and AV-1451 within each Braak region (p < .05). The A + group showed significantly higher AV-1451 retention across all Braak regions compared to the A- and subthreshold A + groups (p < .05). The subthreshold A + group showed significantly higher AV-1451 retention in Braak regions I-III compared to an age-matched sample from the A- group (p < .05). Di

TÍTULO / TITLE:   - Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

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REVISTA / JOURNAL:    - Lancet Neurol.2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0.

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AUTORES / AUTHORS: - Maria Carmona-Iragui et al

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

RESUMEN / SUMMARY: - Background: Adults with Down syndrome are at an ultra-high risk of Alzheimer s disease, but diagnosis of Alzheimer s disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament light chain (NfL) for the diagnosis of symptomatic Alzheimer s disease in Down syndrome, assess its prognostic value, and establish longitudinal changes in adults with Down syndrome. Methods: We did a multicentre cohort study, including adults with Down syndrome (≥18 years), recruited from six hospitals and university medical centres in France, Germany, Spain, the UK, and the USA, who had been assessed, followed up, and provided at least two plasma samples. Participants were classified by local clinicians, who were masked to biomarker data, as asymptomatic (ie, no clinical suspicion of Alzheimer s disease), prodromal Alzheimer s disease, or Alzheimer s disease dementia. We classified individuals who progressed along the Alzheimer s disease continuum during follow-up as progressors. Plasma samples were analysed retrospectively; NfL concentrations were measured centrally using commercial kits for biomarker detection. We used ANOVA to evaluate differences in baseline NfL concentrations, Cox regression to study their prognostic value, and linear mixed models to estimate longitudinal changes. To account for potential confounders, we included age, sex, and intellectual disability as covariates in the analyses. Findings: Between Aug 2, 2010, and July 16, 2019, we analysed 608 samples from 236 people with Down syndrome: 165 (70%) were asymptomatic, 32 (14%) had prodromal Alzheimer s disease, and 29 (12%) had Alzheimer s disease dementia; ten [4%] participants were excluded because their classification was uncertain. Mean follow-up was 3·6 years (SD 1·6, range 0·6-9·2). Baseline plasma NfL concentrations showed an area under the receiver operating characteristic curve of 0·83 (95% CI 0·76-0·91) in the prodromal group and 0·94 (0·90-0·97) in the de

TÍTULO / TITLE:   - Evaluation of the National Task Group-Early Detection Screen for Dementia: Sensitivity to mild cognitive impairment in adults with Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil.2021 May;34(3):905-915. doi: 10.1111/jar.12849.Epub 2020 Dec 13.

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AUTORES / AUTHORS: - Wayne Silverman et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of California, Irvine, Irvine, CA, USA. 

RESUMEN / SUMMARY: - The accuracy of the National Task Group-Early Detection Screen for Dementia (NTG-EDSD) was evaluated in a sample of 185 adults with Down syndrome (DS), emphasizing mild cognitive impairment (MCI-DS) . Method: Knowledgeable informants were interviewed with the NTG-EDSD, and findings were compared to an independent dementia status rating based on consensus review of detailed assessments of cognition, functional abilities and health status (including physician examination). Results: Results indicated that sections of the NTG-EDSD were sensitive to MCI-DS, with one or more concerns within the Memory or Language and Communication domains being most informative. Conclusions: The NTG-EDSD is a useful tool for evaluating dementia status, including MCI-DS. However, estimates of sensitivity and specificity, even for detecting frank dementia, indicated that NTG-EDSD findings need to be supplemented by additional sources of relevant information to achieve an acceptable level of diagnostic/screening accuracy.

TÍTULO / TITLE:   - Development of a symptom menu to facilitate Goal Attainment Scaling in adults with Down syndrome-associated Alzheimer s disease: a qualitative study to identify meaningful symptoms

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REVISTA / JOURNAL:    - J Patient Rep Outcomes.2021 Jan 11;5(1):5. doi: 10.1186/s41687-020-00278-7. Free PMC article

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AUTORES / AUTHORS: - krockwood@dgiclinical.com

INSTITUCIÓN / INSTITUTION: - DGI Clinical Inc, 300SH-1701 Hollis St, Halifax, NS, B3J 3M8, Canada. 

RESUMEN / SUMMARY: - As life expectancy of people with Down syndrome (DS) increases, so does the risk of Alzheimer s disease (AD). Identifying symptoms and tracking disease progression is especially challenging whenever levels of function vary before the onset of dementia. Goal Attainment Scaling (GAS), an individualized patient-reported outcome, can aid in monitoring disease progression and treatment effectiveness in adults with DS. Here, with clinical input, a validated dementia symptom menu was revised to facilitate GAS in adults living with Down Syndrome-associated Alzheimer s disease (DS-AD). Methods: Four clinicians with expertise in DS-AD and ten caregivers of adults living with DS-AD participated in semi-structured interviews to review the menu. Each participant reviewed 9-15 goal areas to assess their clarity and comprehensiveness. Responses were systematically and independently coded by two researchers as clear , modify , remove or new . Caregivers were encouraged to suggest additional items and recommend changes to clarify items. Results: Median caregiver age was 65 years (range 54-77). Most were female (9/10) with ≥15 years of education (10/10). Adults with DS-AD had a median age of 58 years (range 52-61) and either a formal diagnosis (6/10) or clinical suspicion (4/10) of dementia. The initial symptom menu consisted of 67 symptoms each with 2-12 descriptors (589 total). The clinicians adaptation yielded 58 symptoms each with 4-17 descriptors (580 total). Of these 580 descriptors, caregivers identified 37 (6%) as unclear; these were reworded, and one goal area (4 descriptors) was removed. A further 47 descriptors and one goal area were added to include caregiver-identified concepts. The final menu contained 58 goal areas, each with 7-17 descriptors (623 total). Conclusions: A comprehensive symptom menu for adults living with DS-AD was developed to facilitate GAS. Incorporating expert clinician opinion and input from caregivers of adults with DS-AD identified meaningful

TÍTULO / TITLE:   - Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer s disease in adults with Down syndrome

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REVISTA / JOURNAL:    - Nat Commun.2021 Jul 14;12(1):4304. doi: 10.1038/s41467-021-24319-x. Free PMC article

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AUTORES / AUTHORS: - Alberto Lle et al

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

RESUMEN / SUMMARY: - Plasma tau phosphorylated at threonine 181 (p-tau181) predicts Alzheimer s disease (AD) pathology with high accuracy in the general population. In this study, we investigated plasma p-tau181 as a biomarker of AD in individuals with Down syndrome (DS). We included 366 adults with DS (240 asymptomatic, 43 prodromal AD, 83 AD dementia) and 44 euploid cognitively normal controls. We measured plasma p-tau181 with a Single molecule array (Simoa) assay. We examined the diagnostic performance of p-tau181 for the detection of AD and the relationship with other fluid and imaging biomarkers. Plasma p-tau181 concentration showed an area under the curve of 0.80 [95% CI 0.73-0.87] and 0.92 [95% CI 0.89-0.95] for the discrimination between asymptomatic individuals versus those in the prodromal and dementia groups, respectively. Plasma p-tau181 correlated with atrophy and hypometabolism in temporoparietal regions. Our findings indicate that plasma p-tau181 concentration can be useful to detect AD in DS.

TÍTULO / TITLE:   - The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation

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REVISTA / JOURNAL:    - J Alzheimers Dis.2021;81(4):1505-1527. doi: 10.3233/JAD-201427. Free PMC article

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AUTORES / AUTHORS: - Alain D Dekker et al

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Alzheimer Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 

RESUMEN / SUMMARY: - Erratum inThe Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation. Dekker AD, Ulgiati AM, Groen H, Boxelaar VA, Sacco S, Falquero S, Carfi A, di Paola A, Benejam B, Valldeneu S, Fopma R, Oosterik M, Hermelink M, Beugelsdijk G, Schippers M, Henstra H, Scholten-Kuiper M, Willink-Vos J, de Ruiter L, Willems L, Loonstra-de Jong A, Coppus AMW, Tollenaere M, Fortea J, Onder G, Rebillat AS, Van Dam D, De Deyn PP.J Alzheimers Dis. 2021;82(3):1371. doi: 10.3233/JAD-219007.PMID: 34308929 Free PMC article. No abstract available. Background: People with Down syndrome (DS) are at high risk to develop Alzheimer s disease dementia (AD). Behavioral and psychological symptoms of dementia (BPSD) are common and may also serve as early signals for dementia. However, comprehensive evaluation scales for BPSD, adapted to DS, are lacking. Therefore, we previously developed the BPSD-DS scale to identify behavioral changes between the last six months and pre-existing life-long characteristic behavior. Objective: To optimize and further study the scale (discriminative ability and reliability) in a large representative DS study population. Methods: Optimization was based on item irrelevance and clinical experiences obtained in the initial study. Using the shortened and refined BPSD-DS II, informant interviews were conducted to evaluate 524 individuals with DS grouped according to dementia status: no dementia (DS, N = 292), questionable dementia (DS + Q, N = 119), and clinically diagnosed dementia (DS + AD, N = 113). Results: Comparing item change scores between groups revealed prominent changes in frequency and severity for anxious, sleep-related, irritable, restless/stereotypic, apathetic, depressive, and eating/drinking behavior. For most items, the proportion of individuals displaying an increased frequency was highest in DS + AD, intermediate in DS + Q, and lowest in DS. For various items within sections about anx

Cardiology - Cardiología

TÍTULO / TITLE:   - Congenital heart defects among Down s syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling

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REVISTA / JOURNAL:    - J Genet.2021;100:45. Free article

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AUTORES / AUTHORS: - Ambreen Asim,Sarita Agarwal

INSTITUCIÓN / INSTITUTION: - Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226 014, India 

RESUMEN / SUMMARY: - Congenital heart defects (CHD) affect 50% of Down s syndrome (DS) cases. This review focusses on the pathogenic molecular mechanism leading to the formation of DS-associated CHD along with the advancement of the emerging diagnostic techniques available for such patients in past few decades. We have shed light on the causative genes of DS-associated CHD that are located either on chromosome 21 or outside chromosome 21. Along with locus-specific mutation, numerous SNP and CNV, miRNA, use of maternal folic acid during pregnancy and signalling pathways are also reported to contribute to the formation of CHD in patients with DS. With the help of both these our understanding of pathogenic mechanism causing CHD in DS cases along with the availability of emerging technologies has facilitated a novel discovery that has ultimately provided a better treatment and management for such cases. Accurate diagnosis and treatment are now available with the introduction of CNV detection and NGS based approaches such as WES, WGS, target sequencing and sequencing of foetal cell-free DNA by the medical geneticist and cardiologist have now allowed further identification of familial recurrence risk and relatives who are at risk through genetic counselling, thereby providing reproductive options and improving proper care of DS-associated CHD. Further, gene-editing studies explore novel pathogenic mechanisms and signalling pathways in DS-associated CHD.

TÍTULO / TITLE:   - Secundum Type Atrial Septal Defect in Patients with Trisomy 21-Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects

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REVISTA / JOURNAL:    - J Clin Med.2021 Aug 25;10(17):3807. doi: 10.3390/jcm10173807. Free PMC article

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AUTORES / AUTHORS: - Astrid E Lammers et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiology III-Adult Congenital and Valvular Heart Disease, University Hospital Muenster, 48149 Münster, Germany. 

RESUMEN / SUMMARY: - (1) Secundum type atrial septal defect (ASD II) is usually considered a relatively benign cardiac lesion amenable to elective closure at preschool age. Patients with trisomy 21 (T21), however, are known to have a higher susceptibility for pulmonary vascular disease (PVD). Therefore, T21 children may present with clinical symptoms earlier than those without associated anomalies. In addition, early PVD may even preclude closure in selected T21 patients. (2) We performed a retrospective analysis of the German National Register for Congenital Heart Defects including T21 patients with associated isolated ASD II. We report incidence, demographics, therapeutic strategy, outcome, and survival of this cohort. (3) Of 46,628 patients included in the registry, 1549 (3.3%) had T21. Of these, 156 (49.4% female) had an isolated ASD II. Fifty-four patients (34.6%) underwent closure at 6.4 ± 9.9 years of age. Over a cumulative follow-up (FU) of 1148 patient-years, (median 7.4 years), only one patient developed Eisenmenger syndrome and five patients died. Survival of T21 patients without PVD was not statistically different to age- and gender-matched controls from the normal population (p = 0.62), whereas children with uncorrected T21/ASD II (including patients with severe PVD, in whom ASD-closure was considered contraindicated) showed a significantly higher mortality. (4) The outcome of T21-patients with ASD II and without PVD is excellent. However, PVD, either precluding ASD-closure or development of progressive PVD after ASD-closure, is associated with significant mortality in this cohort. Thus T21 patients with ASD II who fulfill general criteria for closure and without PVD should be offered defect closure analogous to patients without T21.

TÍTULO / TITLE:   - Prevalence of breastfeeding in children with congenital heart diseases and Down syndrome

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REVISTA / JOURNAL:    - Clin Nutr ESPEN.2021 Aug;44:458-462. doi: 10.1016/j.clnesp.2021.03.023.Epub 2021 Apr 15.

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AUTORES / AUTHORS: - Clarissa de Oliveira Agostini et al

INSTITUCIÓN / INSTITUTION: - Instituto de Cardiologia do Rio Grande do Sul/Fundação Universitária de Cardiologia (IC/FUC), Porto Alegre, Rio Grande do Sul, Brazil. 

RESUMEN / SUMMARY: - Background: According to the World Health Organization, the worldwide incidence of Down syndrome is one in a thousand live births a year. Of these, it is estimated that 20-60% have congenital heart disease, a factor that hinders breastfeeding. Considering the numerous benefits of breastfeeding, a study verifying this prevalence in children with Down syndrome and congenital heart disease is indispensable, and this is not yet evidenced in the literature. The aim of this study is to verify the prevalence of breastfeeding in children with Down syndrome and congenital heart disease admitted to a referral hospital in cardiology. Methods: Cross-sectional study with 62 patients, aged between 0 and 5 years. Anthropometric variables (weight, height) and data related to breastfeeding were collected. Statistical analysis was performed using the SPSS® version 26.0 statistical software. Results: The prevalence of breastfeeding was of 80.6%, but the median of exclusive breastfeeding was of only 3 days. Only 38.7% received breastfeeding for more than 6 months. The main reasons for interruption were difficulty in sucking and tiredness to breastfeed. Statistical significance was evidenced when comparing the time of exclusive breastfeeding and maintenance with the mother s education, with p = 0.006 and p = 0.041, respectively. No relationship was found between nutritional status and breastfeeding. Conclusions: Despite the high prevalence of breastfeeding, the maintenance time is well below the recommendations. Therefore, further monitoring and promotion of breastfeeding is necessary for this population, given the countless benefits of breast milk.

Dental - Dental

TÍTULO / TITLE:   - Dental Caries Experience among Down s Syndrome Population in Saudi Arabia - A Systematic Review

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REVISTA / JOURNAL:    - Niger J Clin Pract.2021 Aug;24(8):1109-1116. doi: 10.4103/njcp.njcp_492_20. Free article

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AUTORES / AUTHORS: - H Ashi

INSTITUCIÓN / INSTITUTION: - Department of Dental Public Health, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia. 

RESUMEN / SUMMARY: - It is the most common and best-known chromosomal disorder in humans. Its incidence in Saudi Arabia is reported to be 1 in 554 live births. and the scientific evidence on the experience of dental caries (Dental Caries) in DS population is non-conclusive. The aim of this systematic review was to report on the Dental Caries experience among DS population in Saudi Arabia. The electronic databases were searched for scientific research articles published from January 2000 to July 2020. The data search was performed in the electronic search engines like PubMed, Google scholar, Scopus, Web of science, Medline, Embase, Cochrane, and Saudi Digital Library. Eight studies which met the eligibility criteria were further analyzed. The qualitative and quantative data were included in the analysis. The sample size of the study population in the included studies varied from 36 to 224 participants and their age ranged from 3 years to 40 years. In this systematic review we found that five studies have reported a higher prevalence of Dental Caries among the DS population. Three studies reported that there was no difference in the Dental Caries prevalence among the DS population when compared to those without DS. The findings of these studies emphasizes the need to prioritize preventive and curative programs for this special care group. Oral health education programs should focus on targeting the DS population as well as their caretakers in order to help them in achieving better quality of life.

TÍTULO / TITLE:   - Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study

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REVISTA / JOURNAL:    - Int J Mol Sci.2021 Jun 10;22(12):6274. doi: 10.3390/ijms22126274. Free PMC article

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AUTORES / AUTHORS: - Mara Fernndez et al

INSTITUCIÓN / INSTITUTION: - Grupo de Investigación en Odontología Médico-Quirúrgica (OMEQUI), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain. 

RESUMEN / SUMMARY: - Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the "Axiom Spanish Biobank" array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 × 10-5, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10-5, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10-5, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10-5, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10-5, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 × 10-2, p = 5.1 × 10-3, p = 1.2 × 10-2, respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.

Dermatology - Dermatología

TÍTULO / TITLE:   - Treatment of extensive elastosis perforans serpiginosa with acitretin in a man with Down syndrome

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REVISTA / JOURNAL:    - Int J Dermatol.2021 May;60(5):611-612. doi: 10.1111/ijd.15321.Epub 2020 Nov 23.

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AUTORES / AUTHORS: - Tyler Enos et al

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, USA. 

RESUMEN / SUMMARY: -

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Validation of the Childhood Dysphagia Management Scale (CDMS): An Impact Scale for determining medical home for dysphagia

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol.2021 Jun;145:110716. doi: 10.1016/j.ijporl.2021.110716.Epub 2021 A

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AUTORES / AUTHORS: - Jennifer Maybee et al.

INSTITUCIÓN / INSTITUTION: - Children s Hospital Colorado, Aurora, CO, USA. 

RESUMEN / SUMMARY: - The results and recommendations from instrumental assessments of swallowing do not, by themselves, provide guidance regarding the type of medical management that might be needed for the pediatric patient with dysphagia. The aim of this study is to evaluate the reliability and validity of the Childhood Dysphagia Management Scale (CDMS), a clinical scale developed to estimate the impact of dysphagia and determine the need for a multidisciplinary medical home to manage dysphagia. Methods: This was a prospective observational study implemented in three phases to evaluate validity and reliability of the CDMS. Analyses for internal consistency, inter-rater and intra-rater reliability, repeated measure, content, structural, criterion and external validity and hypothesis testing were conducted. Results: This study established content, structural, internal, external, and criterion validity of the CDMS. The CDMS was found to have robust inter-rater (κ = 0.776) and intra-rater reliability (κ = 0.853), and consistency across repeated measures (κ = 0.853). Providers who used the CDMS had a high level of agreement with the recommended medical management plan. CDMS scores correlated (F(5,118) = 22.105, p < 0.001) with Functional Oral Intake Scale (FOIS) scores confirming that patients with significant diet restrictions were more likely to be referred for multidisciplinary care. To establish external validity, the CDMS was administered to a higher risk group, patients with Down syndrome, who were more likely to be referred for multidisciplinary care based on CDMS results versus the general swallowing disorders clinic population (F(1,281) = 24.357, p < 0.001). Conclusion: The CDMS is a reliable and valid scale for guiding decision-making regarding the medical home for pediatric dysphagia management.

TÍTULO / TITLE:   - Diagnosis and patterns of hearing loss in children with severe developmental delay

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REVISTA / JOURNAL:    - Am J Otolaryngol.May-Jun 2021;42(3):102923. doi: 10.1016/j.amjoto.2021.102923.Epub 2021 Jan 13.

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AUTORES / AUTHORS: - Stephen Trudeau

INSTITUCIÓN / INSTITUTION: - Case Western Reserve University School of Medicine, Cleveland, OH, United States of America. 

RESUMEN / SUMMARY: - Introduction & objective: Children with cognitive delay often experience challenges with obtaining hearing thresholds through behavioral audiometry (BA). This necessitates sedated Auditory Brainstem Response (sABR) testing. This study aimed to evaluate diagnostic and hearing patterns in children with Down Syndrome (DS), Autism Spectrum Disorder (ASD), Global Developmental delay (GDD), and Cerebral Palsy (CP) who were unable to complete reliable BA testing due to severe cognitive delay.Methods: Retrospective chart review on a cohort of children aged 0.5-18 years with a diagnosis of DS, ASD, GDD, or CP who underwent sABR due to unsuccessful BA testing. This was performed at a tertiary care institution from 2014 to 2019. Testing patterns and audiometric data were collected.Results: Across 15 DS, 39 ASD, 10 GDD, and 11 CP patients, the average time from first nondiagnostic BA to sABR ranged from 8.6 months (in GDD) to 21.8 months (in DS). The average number of BAs performed before sABR ranged from 1.6 (in ASD and GDD) to 2.7 (in DS). Hearing loss (HL) was diagnosed in 10%, 13%, 36% and 46% of patients with GDD, ASD, CP and DS respectively. Up to 75% of the HL was sensorineural (in CP patients).Conclusion: In children with significant cognitive delays, a high incidence of HL (especially SNHL) was identified, therefore high suspicion for HL should be held in these patients. Multiple unsuccessful BAs contribute to prolonged time to diagnosis and treatment, thus prompt sABR should be performed in patients whose severe cognitive delay inhibits reliable testing with BA.

TÍTULO / TITLE:   - Repeat tympanostomy tubes in children with Down syndrome

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol.2021 Sep;148:110811. doi: 10.1016/j.ijporl.2021.110811.Epub 2021 J

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AUTORES / AUTHORS: - Mahmoud Omar et al

INSTITUCIÓN / INSTITUTION: - University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. 

RESUMEN / SUMMARY: - Objectives: Children with Down syndrome (DS) have a higher incidence of tympanostomy tube insertion (TTI) than children in the general population. As there were no studies investigating factors that are associated with multiple TTIs in children with DS, we sought to determine what factors increase or decrease the likelihood of repeat TTI in children with DS. Methods: A retrospective case-control study was performed on consecutive children with DS from 2007 to 2018 with first TTI at a large tertiary children s hospital and follow-up duration at least 27 months since first TTI. Results: 277 patients met the inclusion criteria. Repeat TTI rate was 61.4%. Having an indication of chronic otitis media with effusion (COME) at first TTI was an adjusted risk factor for increased rate of repeat TTI (OR: 2.01, 95%CI: 1.15-3.51, p = .014), while being older at first TTI was an adjusted protective factor for decreased rate of repeat TTI (OR: 0.84, 95%CI: 0.74-0.95, p = .004). Adenotonsillectomy at or before first TTI was not an adjusted protective factor for decreased rate of repeat TTI (OR: 0.915, 95%CI: 0.448-1.872, p = .809) and bilateral intra-operative fluid was not an adjusted risk factor for repeat TTI (OR: 1.97, 95%CI: 0.99-3.90, p = .054). Conclusion: Children with DS were more likely to undergo repeat TTI if they were of younger age and if the indication for surgery was COME. The repeat TTI rate for children with DS was high at 61.4%. Prospective studies are warranted to more precisely investigate factors associated with repeat TTIs in this unique patient population.

TÍTULO / TITLE:   - Luc s abscess in Down syndrome - A case report

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REVISTA / JOURNAL:    - Med J Malaysia.2021 Sep;76(5):768-770. Free article

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AUTORES / AUTHORS: - A K Abdul Azim Al-Abrar et al

INSTITUCIÓN / INSTITUTION: - Universiti Sains Malaysia, School of Medical Sciences, Department of Otorhinolaryngology-Head and Neck Surgery, Health Campus, Kubang Kerian, Kelantan, Malaysia. 

RESUMEN / SUMMARY: - Luc s abscess is an exceedingly rare complication of otitis media, where the middle ear infection spreads extratemporally causing a subperiosteal collection under the temporalis muscle. It is known as a benign complication of otitis media as it is thought not to involve the mastoid bone in comparison to other types of extratemporal abscesses related to otitis media. We describe a challenging case of a 19-year-old male with Down syndrome diagnosed with Luc s abscess involving the mastoid bone. A high-resolution computed tomography scan is important to determine the extent of the abscess, with or without mastoid involvement, and the presence of complications. These findings will then help to determine the surgical options. Drainage of abscesses is a simple, initial, and conservative approach but less effective compared to mastoidectomy. Mastoidsparing approach should only be considered if there is complete resolution after a simple drainage and antibiotic treatment.

TÍTULO / TITLE:   - Complicated cholesteatoma in a child with Down syndrome: a case report

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REVISTA / JOURNAL:    - Arch Argent Pediatr.2021 Oct;119(5):e504-e507. doi: 10.5546/aap.2021.e504. Free article

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AUTORES / AUTHORS: - Roxana Spini et al

INSTITUCIÓN / INSTITUTION: - División de Otorrinolaringología, Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires, Argentina 

RESUMEN / SUMMARY: - in English, Spanish El colesteatoma adquirido en niños es una enfermedad agresiva debido a su rápido crecimiento y la alta tasa de recurrencia. Las complicaciones se dividen en dos grandes grupos: las relacionadas con el hueso temporal (dentro o fuera de él) y las complicaciones intracraneales. El absceso subperióstico es la complicación extratemporal más común y es más frecuente en los niños más pequeños. Los pacientes que padecen síndrome de Down tienen una prevalencia elevada (superior al 80 %) de otitis media con efusión, que puede estar determinada anatómicamente por la hipoplasia mediofacial con una nasofaringe estrecha y adenoides hipertrófica, junto a trastornos funcionales y mecánicos de la trompa auditiva. Se presenta un niño de 8 años con síndrome de Down que desarrolló un absceso subperióstico como complicación de un colesteatoma que requirió abordaje quirúrgico inmediato para su resolución.

TÍTULO / TITLE:   - Laryngeal lymphangioma as a cause of respiratory distress in an adult with Down s syndrome: an extremely rare presentation

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REVISTA / JOURNAL:    - BMJ Case Rep.2021 Jan 27;14(1):e240130. doi: 10.1136/bcr-2020-240130.

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AUTORES / AUTHORS: - Neha Chauhan et al

INSTITUCIÓN / INSTITUTION: - ENT, Post Graduate Institute of Medical Education and Research, Chandigarh, India. 

RESUMEN / SUMMARY: - A 32-year-old man with Down s syndrome was referred to the ear, nose and throat (ENT) department in view of failed attempts at extubation, and subsequently, at decannulation of tracheotomy tube. He had previously required ventilatory support and had history of intubation for 1 week. A flexible fibre-optic laryngoscopy showed a smooth mass covering the laryngeal inlet which moved with respiration. Direct laryngoscopy under general anaesthesia revealed a smooth mucosa covered fleshy mass arising from the left aryepiglottic fold and arytenoid, obstructing the laryngeal inlet. The mass was removed using controlled plasma ablation, and histopathological examination of the same was consistent with lymphangioma. Endoscopic examinations during the regular follow-up visits revealed well-healed supraglottic area with adequate glottic chink and the patient could be successfully decannulated.

TÍTULO / TITLE:   - Supraglottic foreign body in a woman with Down s syndrome and congenital heart disease: A case report

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REVISTA / JOURNAL:    - Medicine (Baltimore).2021 Apr 9;100(14):e25455. doi: 10.1097/MD.0000000000025455. Free PMC article

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AUTORES / AUTHORS: - Yuchao Liu et al

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology. 

RESUMEN / SUMMARY: - Rationale: An impacted foreign body (FB) in the larynx of an adult is a rare but potentially life-threatening occurrence. Patients with Down s syndrome (DS) are vulnerable to airway FB. However, the anesthesia for FB removal can be challenging. This report describes a case in which a FB was impacted between the vestibular folds in an adult with DS, congenital heart disease, and a difficult airway. Patient concerns: A 41-year-old woman swallowed a piece of sharp-tipped wooden skewer presented with a sudden onset of aphonia, dysphagia, and an acute sore throat without respiratory difficulty. The patient had DS, congenital heart disease, pulmonary arterial hypertension, and severe obstructive sleep apnea-hypopnea syndrome. The airway evaluation indicated that ventilation and intubation would be difficult due to retrognathia, macroglossia, adenotonsillar hypertrophy, and Mallampati s classification III. Diagnosis: The clinical symptoms and laboratory examination confirmed FB penetrated between the vestibular folds. Interventions: After careful multidisciplinary preoperative assessment and preparation, the FB was removed successfully by direct laryngoscopy under moderate sedation and spontaneous ventilation, with the application of 1% lidocaine as topical anesthesia. Outcomes: The laryngeal FB was removed successfully without any complications. And the patient was discharged home the next day. Lessons: This case report shows the importance of anesthetic depth for laryngeal FB removal. The use of moderate sedation (allowing spontaneous ventilation) and adequate analgesia combined with local anesthesia enabled the patient to withstand the stress of direct laryngoscopy. Appropriate assessment, careful preparation, and multidisciplinary collaboration yielded the smooth removal of a laryngeal FB in an adult with DS.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Graves disease in a patient with Down syndrome: a shift from hyperthyroidism to hypothyroidism

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REVISTA / JOURNAL:    - BMJ Case Rep.2021 Sep 13;14(9):e242612. doi: 10.1136/bcr-2021-242612.

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AUTORES / AUTHORS: - Sara Todo Bom Costa et al

INSTITUCIÓN / INSTITUTION: - Pediatrics Deparment-HVFX, CUF, José Mello Saude Group, CUF, Carnaxide, Portuga 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with an increased risk of multisystemic dysfunction, namely endocrine abnormalities. Thyroid dysfunction is the most common endocrinological disorder, and it can manifest as either hypothyroidism or hyperthyroidism. A 16-year-old patient with DS developed hyperthyroidism after a lifetime of alternating between subclinical hypothyroidism and euthyroidism. He presented new onset weight loss, agitation and diarrhoea. Laboratory studies were compatible with hyperthyroidism. Thyroid receptor antibodies (TRAbs) were positive, antithyroid peroxidase antibodies and thyroglobulin antibodies were negative. Antithyroid medication (methimazole) was prescribed and, despite therapy adjustments, laboratory evaluation revealed new onset hypothyroidism with persistently positive TRAbs. He experienced weight gain and remained in a hypothyroid state even with withdrawal of methimazole and administration of levothyroxine. This case illustrates an example of Graves disease with coexisting stimulating and inhibiting TRAbs that led to a shift from hyperthyroidism to hypothyroidism, a rare condition in patients with DS.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Ileosigmoid knot in a patient with Down syndrome: a unique surgical emergency

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REVISTA / JOURNAL:    - Pan Afr Med J.2021 Jan 5;38:8. doi: 10.11604/pamj.2021.38.8.27407.eCollection 2021. Free PMC arti

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AUTORES / AUTHORS: - Said Boussaidane et al

INSTITUCIÓN / INSTITUTION: - Department of General Surgery, Ibn Tofail Hospital, Mohamed VI University Hospital, Cadi Ayad University, Marrakech, Morocco. 

RESUMEN / SUMMARY: - The ileosigmoid knot (ISK) or double ileosigmoid volvulus is a wrapping of the small intestine around the base of the sigmoid colon. We report an unusual case in the digestive surgery department of the Ibn Tofail Hospital of CHU Mohammed VI Marrakech of a 28-year-old man with Down s syndrome who presented with symptoms and signs of intestinal obstruction. Abdominal CT scan revealed a whirl sing and significant distension of the sigmoid loop. Exploratory laparotomy revealed ISK resulting in gangrene of ileum and sigmoid colon. The surgical procedure was a necrotic digestive segments resection, with a double-barrelled ileostomy and a Hartmann procedure. One month afterwards, the patient was operated on to reestablish of the continuity. Through this observation and a review of the literature we define the diagnostic, therapeutic and prognosis aspects of this rare clinical entity.

TÍTULO / TITLE:   - Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

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REVISTA / JOURNAL:    - Am J Med Genet A.2020 Aug;182(8):1890-1895. doi: 10.1002/ajmg.a.61639.Epub 2020 Jun 23.

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AUTORES / AUTHORS: - Mersedeh Rohanizadegan et al

INSTITUCIÓN / INSTITUTION: - Division of Genetics and Genomics, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.

TÍTULO / TITLE:   - Validation of the Childhood Dysphagia Management Scale (CDMS): An Impact Scale for determining medical home for dysphagia

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol.2021 Jun;145:110716. doi: 10.1016/j.ijporl.2021.110716.Epub 2021 Ap

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AUTORES / AUTHORS: - Jennifer Maybee et al.

INSTITUCIÓN / INSTITUTION: - Children s Hospital Colorado, Aurora, CO, USA. 

RESUMEN / SUMMARY: - Background: The results and recommendations from instrumental assessments of swallowing do not, by themselves, provide guidance regarding the type of medical management that might be needed for the pediatric patient with dysphagia. The aim of this study is to evaluate the reliability and validity of the Childhood Dysphagia Management Scale (CDMS), a clinical scale developed to estimate the impact of dysphagia and determine the need for a multidisciplinary medical home to manage dysphagia. Methods: This was a prospective observational study implemented in three phases to evaluate validity and reliability of the CDMS. Analyses for internal consistency, inter-rater and intra-rater reliability, repeated measure, content, structural, criterion and external validity and hypothesis testing were conducted. Results: This study established content, structural, internal, external, and criterion validity of the CDMS. The CDMS was found to have robust inter-rater (κ = 0.776) and intra-rater reliability (κ = 0.853), and consistency across repeated measures (κ = 0.853). Providers who used the CDMS had a high level of agreement with the recommended medical management plan. CDMS scores correlated (F(5,118) = 22.105, p < 0.001) with Functional Oral Intake Scale (FOIS) scores confirming that patients with significant diet restrictions were more likely to be referred for multidisciplinary care. To establish external validity, the CDMS was administered to a higher risk group, patients with Down syndrome, who were more likely to be referred for multidisciplinary care based on CDMS results versus the general swallowing disorders clinic population (F(1,281) = 24.357, p < 0.001). Conclusion: The CDMS is a reliable and valid scale for guiding decision-making regarding the medical home for pediatric dysphagia management.

Genetics - Genética

TÍTULO / TITLE:   - Aneuploidy as a promoter and suppressor of malignant growth

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REVISTA / JOURNAL:    - Nat Rev Cancer.2021 Feb;21(2):89-103. doi: 10.1038/s41568-020-00321-1.Epub 2021 Jan 11.

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AUTORES / AUTHORS: - Anand Vasudevan,Klaske M Schukken,Erin L Sausville,Vishruth Girish,Oluwadamilare A Adebambo,Jason M Sheltzer

INSTITUCIÓN / INSTITUTION: - Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. 

RESUMEN / SUMMARY: - Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant growth has remained obscure. New evidence emerging from both basic and clinical research has illuminated a complicated relationship: despite its frequency in human tumours, aneuploidy is not a universal driver of cancer development and instead can exert substantial tumour-suppressive effects. The specific consequences of aneuploidy are highly context dependent and are influenced by a cell s genetic and environmental milieu. In this Review, we discuss the diverse facets of cancer biology that are shaped by aneuploidy, including metastasis, drug resistance and immune recognition, and we highlight aneuploidy s distinct roles as both a tumour promoter and an anticancer vulnerability.

TÍTULO / TITLE:   - The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report

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REVISTA / JOURNAL:    - Am J Med Genet A.2021 Sep 2. doi: 10.1002/ajmg.a.62471.Online ahead of print.

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AUTORES / AUTHORS: - Desalyn Louise Johnson 1, Caterina Abdala Villa 2 3, Matthew C Lustig 3 4, Nathaniel H Robin

INSTITUCIÓN / INSTITUTION: - School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA. 

RESUMEN / SUMMARY: - Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung s disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.

TÍTULO / TITLE:   - Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome

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REVISTA / JOURNAL:    - PLoS One.2021 Jul 20;16(7):e0254806. doi: 10.1371/journal.pone.0254806.eCollection 2021. Free PMC

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AUTORES / AUTHORS: - Kelly Rafferty et al

INSTITUCIÓN / INSTITUTION: - Department of Human & Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America. 

RESUMEN / SUMMARY: - Down syndrome, which results from a trisomic imbalance for chromosome 21, has been associated with 80+ phenotypic traits. However, the cellular changes that arise in somatic cells due to this aneuploid condition are not fully understood. The primary aim of this study was to determine if germline trisomy 21 is associated with an increase in spontaneous somatic cell chromosomal instability frequencies (SCINF). To achieve this aim, we quantified SCINF in people with mosaic Down syndrome using a cytokinesis-blocked micronucleus assay. By comparing values in their isogenic trisomic/disomic cells, we obtained a measure of differences in SCINF that are directly attributable to a trisomy 21 imbalance, since differential effects attributable to "background" genetic factors and environmental exposures could be eliminated. A cross-sectional assessment of 69 people with mosaic Down syndrome (ages 1 to 44; mean age of 12.84 years) showed a significantly higher frequency of micronuclei in their trisomic (0.37 ± 0.35 [mean ± standard deviation]) compared to disomic cells (0.18 ± 0.11)(P <0.0001). The daughter binucleates also showed significantly higher levels of abnormal patterns in the trisomic (1.68 ± 1.21) compared to disomic (0.35 ± 0.45) cells (P <0.0001). Moreover, a significant Age x Cell Type interaction was noted (P = 0.0113), indicating the relationship between age and SCINF differed between the trisomic and disomic cells. Similarly, a longitudinal assessment (mean time interval of 3.9 years; range of 2 to 6 years) of 18 participants showed a mean 1.63-fold increase in SCINF within individuals over time for their trisomic cells (P = 0.0186), compared to a 1.13-fold change in their disomic cells (P = 0.0464). In summary, these results showed a trisomy 21-associated, age-related increase in SCINF. They also underscore the strength of the isogenic mosaic Down syndrome model system for "unmasking" cellular changes arising from a trisomy 21 imbalance.

TÍTULO / TITLE:   - Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions

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REVISTA / JOURNAL:    - Genes (Basel).2021 Aug 6;12(8):1215. doi: 10.3390/genes12081215. Free PMC article

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AUTORES / AUTHORS: - Yichen Li et al

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

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most complex genetic disorders in humans and a leading genetic cause of developmental delays and intellectual disabilities. The mouse remains an essential model organism in DS research because human chromosome 21 (Hsa21) is orthologously conserved with three regions in the mouse genome. Recent studies have revealed complex interactions among different triplicated genomic regions and Hsa21 gene orthologs that underlie major DS phenotypes. Because we do not know conclusively which triplicated genes are indispensable in such interactions for a specific phenotype, it is desirable that all evolutionarily conserved Hsa21 gene orthologs are triplicated in a complete model. For this reason, the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ mouse is the most complete model of DS to reflect gene dosage effects because it is the only mutant triplicated for all Hsa21 orthologous regions. Recently, several groups have expressed concerns that efforts needed to generate the triple compound model would be so overwhelming that it may be impractical to take advantage of its unique strength. To alleviate these concerns, we developed a strategy to drastically improve the efficiency of generating the triple compound model with the aid of a targeted coat color, and the results confirmed that the mutant mice generated via this approach exhibited cognitive deficits.

TÍTULO / TITLE:   - Novel insights from fetal and placental phenotyping in 3 mouse models of Down syndrome

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REVISTA / JOURNAL:    - Am J Obstet Gynecol.2021 Sep;225(3):296.e1-296.e13. doi: 10.1016/j.ajog.2021.03.019.Epub 2021 Mar

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AUTORES / AUTHORS: - April D Adams et al

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

RESUMEN / SUMMARY: - Background: In human fetuses with Down syndrome, placental pathology, structural anomalies and growth restriction are present. There is currently a significant lack of information regarding the early life span in mouse models of Down syndrome. Objective: The objective of this study was to examine embryonic day 18.5 and placental phenotype in the 3 most common mouse models of Down syndrome (Ts65Dn, Dp(16)1/Yey, Ts1Cje). Based on prenatal and placental phenotyping in 3 mouse models of Down syndrome, we hypothesized that one or more of them would have a similar phenotype to human fetuses with trisomy 21, which would make it the most suitable for in utero treatment studies. Study design: Here, C57BL6J/6 female mice were mated to Dp(16)1/Yey and Ts1Cje male mice and Ts65Dn female mice to C57BL/B6Eic3Sn.BLiAF1/J male mice. At embryonic day 18.5, dams were euthanized. Embryos and placentas were examined blindly for weight and size. Embryos were characterized as euploid or trisomic, male or female by polymerase chain reaction. A subset of embryos (34 euploid and 34 trisomic) were examined for malformations. Results: The Ts65Dn mouse model showed the largest differences in fetal growth, brain development, and placental development when comparing euploid and trisomic embryos. For the Dp(16)1/Yey mouse model, genotype did not impact fetal growth, but there were differences in brain and placental development. For the Ts1Cje mouse model, no significant association was found between genotype and fetal growth, brain development, or placental development. Euploid mouse embryos had no congenital anomalies; however, 1 mouse embryo died. Hepatic necrosis was seen in 6 of 12 Dp(16)1/Yey (50%) and 1 of 12 Ts1Cje (8%) mouse embryos; hepatic congestion or inflammation was observed in 3 of 10 Ts65Dn mouse embryos (30%). Renal pelvis dilation was seen in 5 of 12 Dp(16)1/Yey (42%), 5 of 10 Ts65Dn (50%), and 3 of 12 Ts1Cje (25%) mouse embryos. In addition, 1 Ts65Dn mouse embryo and 1 Dp(16)1/

TÍTULO / TITLE:   - The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte

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REVISTA / JOURNAL:    - PLoS Genet.2021 Mar 22;17(3):e1009462. doi: 10.1371/journal.pgen.1009462.eCollection 2021 Mar. Fr

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AUTORES / AUTHORS: - Upamanyu Pal et al.

INSTITUCIÓN / INSTITUTION: - Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath Palit Siksha Prangan (Ballygunge Science College Campus), Kolkata, West Bengal, India. 

RESUMEN / SUMMARY: - Altered patterns of recombination on 21q have long been associated with the nondisjunction chromosome 21 within oocytes and the increased risk of having a child with Down syndrome. Unfortunately the genetic etiology of these altered patterns of recombination have yet to be elucidated. We for the first time genotyped the gene MCM9, a candidate gene for recombination regulation and DNA repair in mothers with or without children with Down syndrome. In our approach, we identified the location of recombination on the maternal chromosome 21 using short tandem repeat markers, then stratified our population by the origin of meiotic error and age at conception. We observed that twenty-five out of forty-one single nucleotide polymorphic sites within MCM9 exhibited an association with meiosis I error (N = 700), but not with meiosis II error (N = 125). This association was maternal age-independent. Several variants exhibited aprotective association with MI error, some were neutral. Maternal age stratified characterization of cases revealed that MCM9 risk variants were associated with an increased chance of reduced recombination on 21q within oocytes. The spatial distribution of single observed recombination events revealed no significant change in the location of recombination among women harbouring MCM9 risk, protective, or neutral variant. Additionally, we identified a total of six novel polymorphic variants and two novel alleles that were either risk imparting or protective against meiosis I nondisjunction. In silico analyses using five different programs suggest the risk variants either cause a change in protein function or may alter the splicing pattern of transcripts and disrupt the proportion of different isoforms of MCM9 products within oocytes. These observations bring us a significant step closer to understanding the molecular basis of recombination errors in chromosome 21 nondisjunction within oocytes that leads to birth of child with Down syndrome.

TÍTULO / TITLE:   - Possible roles for the hominoid-specific DSCR4 gene in human cells

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REVISTA / JOURNAL:    - Genes Genet Syst.2021 May 8;96(1):1-11. doi: 10.1266/ggs.20-00012.Epub 2021 Mar 24. Free article

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AUTORES / AUTHORS: - Morteza M Saber et al

INSTITUCIÓN / INSTITUTION: - Population Genetics Laboratory, National Institute of Genetics. 

RESUMEN / SUMMARY: - Down syndrome in humans is caused by trisomy of chromosome 21. DSCR4 (Down syndrome critical region 4) is a de novo-originated protein-coding gene present only in human chromosome 21 and its homologous chromosomes in apes. Despite being located in a medically critical genomic region and an abundance of evidence indicating its functionality, the roles of DSCR4 in human cells are unknown. We used a bioinformatic approach to infer the biological importance and cellular roles of this gene. Our analysis indicates that DSCR4 is likely involved in the regulation of interconnected biological pathways related to cell migration, coagulation and the immune system. We also showed that these predicted biological functions are consistent with tissue-specific expression of DSCR4 in migratory immune system leukocyte cells and neural crest cells (NCCs) that shape facial morphology in the human embryo. The immune system and NCCs are known to be affected in Down syndrome individuals, who suffer from DSCR4 misregulation, which further supports our findings. Providing evidence for the critical roles of DSCR4 in human cells, our findings establish the basis for further experimental investigations that will be necessary to confirm the roles of DSCR4 in the etiology of Down syndrome.

TÍTULO / TITLE:   - Whole exome sequencing of fetal structural anomalies detected by ultrasonography

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REVISTA / JOURNAL:    - J Hum Genet.2021 May;66(5):499-507. doi: 10.1038/s10038-020-00869-8.Epub 2020 Nov 3.

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AUTORES / AUTHORS: - Hiromi Aoi et al

INSTITUCIÓN / INSTITUTION: - Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. 

RESUMEN / SUMMARY: - The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth. WES data were analyzed on prenatal phenotypes alone, and the data were re-analyzed after information regarding the postnatal phenotype was obtained. Based solely on the fetal phenotype, pathogenic, or likely pathogenic, single nucleotide variants were identified in 5 of 19 (26.3%) cases. Moreover, we detected trisomy 21 in two cases by WES-based copy number variation analysis. The overall diagnostic rate was 36.8% (7/19). They were all compatible with respective fetal structural anomalies. By referring to postnatal phenotype information, another candidate variant was identified by a postnatal clinical feature that was not detected in prenatal screening. As detailed phenotyping is desirable for better diagnostic rates in WES analysis, we should be aware that fetal phenotype is a useful, but sometimes limited source of information for comprehensive genetic analysis. It is important to amass more data of genotype-phenotype correlations, especially to appropriately assess the validity of WES in prenatal settings.

TÍTULO / TITLE:   - Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study

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REVISTA / JOURNAL:    - Hum Cell.2021 Nov;34(6):1662-1670. doi: 10.1007/s13577-021-00602-3.Epub 2021 Sep 12.

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AUTORES / AUTHORS: - Michele Salemi et al

INSTITUCIÓN / INSTITUTION: - Oasi Research Institute-IRCCS, Troina, EN, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is defined by the presence of a third copy of chromosome 21. Several comorbidities can be found in these patients, such as intellectual disability (ID), muscle weakness, hypotonia, congenital heart disease, and autoimmune diseases. The molecular mechanisms playing a role in the development of such comorbidities are still unclear. The regulation and expression of genes that map to chromosome 21 are dynamic and complex, so it is important to perform global gene expression studies with high statistical power to fully characterize the transcriptome in DS patients. This study was undertaken to evaluate mRNAs and lncRNA expression in patients with DS versus a matched cohort of healthy subjects. RNA sequencing was used to perform this transcriptome study. Differential expression analysis revealed 967 transcripts with padj ≤ 0.05. Among them, 447 transcripts were differentially expressed in patients with DS compared to controls. Particularly, 203 transcripts were down expressed (151 protein-coding mRNAs, 45 lncRNAs, 1 microRNA, 1 mitochondrial tRNA, 1 ribozyme, and 1 small nuclear RNA) and 244 were over expressed (210 protein-coding mRNAs and 34 lncRNAs). Interestingly, deregulated lncRNAs are involved in pathways that play a role in developmental disorders, neurological diseases, DNA replication and repair mechanisms, and cancer development in DS patients. In conclusion, these results suggest a role of lncRNAs in the phenotype of DS patients.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Spinal Deformities in the Adolescent Athlete

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REVISTA / JOURNAL:    - Clin Sports Med.2021 Jul;40(3):541-554. doi: 10.1016/j.csm.2021.03.007.

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AUTORES / AUTHORS: - Keith R Bachmann

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedic Surgery, University of Virginia, PO Box 800159, Charlottesville, VA 22908, USA. 

RESUMEN / SUMMARY: - Idiopathic scoliosis will be noted in 2% to 3% of typically developing athletes. Sports physicals are an opportunity to screen for spinal deformity and to promote healthy involvement in activities. Bracing is effective at limiting further progression if a curve progresses beyond 20°. If spinal fusion is performed, most surgeons allow return to noncontact and contact sports by 6 to 12 months. There are many other conditions associated with scoliosis that require a more nuanced approach and assessment of the entire patient. Patients with Down syndrome should be examined for myelopathy before participation and a lateral radiograph obtained if concerned for instability.

TÍTULO / TITLE:   - Repeat Pediatric Trisomy 21 Radiographic Exam: Does Atlantoaxial Instability Develop Over Time?

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REVISTA / JOURNAL:    - J Pediatr Orthop.2021 Sep 1;41(8):e646-e650. doi: 10.1097/BPO.0000000000001884.

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AUTORES / AUTHORS: - Jennifer M Bauer et al.

INSTITUCIÓN / INSTITUTION: - Seattle Children s Hospital Department of Orthopaedic Surgery, University of Washington Department of Orthopaedics and Sports Medicine. 

RESUMEN / SUMMARY: - Background: Atlantoaxial instability (AAI) is common in pediatric patients with Trisomy 21 and can lead to spinal cord injury during sports, trauma, or anesthetized neck manipulation. Children with Trisomy 21 therefore commonly undergo radiographic cervical spine screening, but recommendations on age and timing vary. The purpose of this study was to determine if instability develops over time. Methods: We performed a retrospective review for all pediatric Trisomy 21 patients receiving at least 2 cervical spine radiographic series between 2008 and 2020 at our institution. Atlantodens interval (ADI) and space available for the cord at C1 (SAC) were measured; bony abnormalities such as os odontoidium, and age and time between radiographs were noted. AAI was determined by ADI ≥6 mm or SAC ≤14 mm based on our groups prior study. Those who developed instability were compared with those who did not. Results: A total of 437 cervical spine radiographic series from 192 patients were evaluated, with 160 included. Mean age at first radiograph was 7.4±4.4 years, average ADI was 3.1 mm (±1.2), and SAC was 18.1 mm (±2.6). The average time between first and last radiographs was 4.3 years (±1.8), with average final ADI 3.2 mm (±1.4) and SAC 18.9 mm (±2.9). Seven patients (4%) had instability: 4 were unstable on their initial studies and 3 (1.6%) on subsequent imaging. Os odontoideum was found in 5 (71%) unstable spines and 3 (2%) stable spines (P<0.0001); only 1 patient that became unstable on subsequent radiograph did not have an os. There was no specific age cut-off or surveillance time period after which one could be determined no longer at risk. Conclusions: Trisomy 21 patients have a 4.4% overall rate of AAI in our series with a 1.6% rate of progression to instability over ∼4 years. Given this nearly 1 in 23 risk of instability, we recommend initial surveillance radiograph for all children over 3 years with Trisomy 21; repeat asymptomatic surveillance shoul

Gynecology - Ginecología

TÍTULO / TITLE:   - The Effect of Fetal Trisomy 21 on Adverse Perinatal Obstetrical Outcomes in Nova Scotia, 2000-2019

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REVISTA / JOURNAL:    - J Obstet Gynaecol Can.2021 May;43(5):583-588. doi: 10.1016/j.jogc.2020.09.019.Epub 2020 Oct 6.

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AUTORES / AUTHORS: - Jo-Ann K Brock

INSTITUCIÓN / INSTITUTION: - Departent of Pathology and Laboratory Medicine, Dalhousie University, Halifax, NS; Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, NS 

RESUMEN / SUMMARY: - Objective: To understand the risks associated with trisomy 21 in pregnancy in order to inform obstetrical care and improve outcomes.Methods: A population-based retrospective cohort study was undertaken of all pregnancies involving a fetus with trisomy 21 in Nova Scotia, Canada, from 2000 to 2019. Cases were identified from the provincial laboratory genetics database, linked to the Nova Scotia Atlee Perinatal Database for pregnancy outcomes, and compared with the general obstetrical population.Results: A total of 350 pregnancies were identified, of which 23% were ongoing pregnancies in which trisomy 21 was diagnosed prenatally and 24% involved diagnoses made after delivery. Compared with the general obstetrical population, women with ongoing pregnancies affected by trisomy 21 were more likely to be older (mean age 34 vs. 29 y), multiparous (67% vs. 55%), and in a relationship (79% vs. 68%). Trisomy 21 was associated with a significantly increased risk of preterm birth (<37 weeks; 24.1% vs. 8.3%); small for gestational age (<10th percentile; 21.7% vs. 8.2%); cesarean delivery (31.5% vs. 27.1%); and combined perinatal/neonatal mortality (8.0% vs. 0.8%) (P < 0.001 for all).Conclusion: Trisomy 21 is associated with significant adverse perinatal and neonatal risks. Population screening to identify trisomy 21 can be used to optimize perinatal outcomes with appropriate fetal surveillance in these pregnancies.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Down syndrome with neonatal alloimmune thrombocytopenia due to anti-HLA A31 and B61 antibodies

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REVISTA / JOURNAL:    - Int J Hematol.2021 Jun;113(6):945-949. doi: 10.1007/s12185-021-03092-z.Epub 2021 Feb 11.

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AUTORES / AUTHORS: - Eriko Shima et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima, Fukushima, 960-1295, Japan. 

RESUMEN / SUMMARY: - Neonatal alloimmune thrombocytopenia (NAIT) arises from fetomaternal platelet incompatibility that results in transplacental passage of maternal antibodies mostly against fetal human platelet antigens (HPA), whereas NAIT due to anti-human leukocyte antigen (HLA) antibodies is extremely rare. Here, we report a case of Down syndrome (DS) with NAIT that was attributed to HLA antibodies. A boy with DS was delivered at 36 weeks gestation. His platelet count declined to 13.0 × 109/L, suggestive of NAIT rather than other conditions, including transient abnormal myelopoiesis. Random platelet concentrates and intravenous immunoglobulin administration resolved the thrombocytopenia without clinical complications. Immunoserological investigations detected anti-HLA, but no anti-HPA antibodies in samples from the patient and the mother. HLA typing and cross-matching indicated that anti-HLA antibodies to paternal HLA A31 and B61, which had probably been induced during a prior pregnancy, led to NAIT in this case. Although it is a rare condition, healthcare providers should consider NAIT due to HLA antibodies and be vigilant for subsequent cases in DS.

TÍTULO / TITLE:   - Aneuploidy as a promoter and suppressor of malignant growth

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REVISTA / JOURNAL:    - Nat Rev Cancer. 2021 Feb;21(2):89-103. doi: 10.1038/s41568-020-00321-1. Epub 2021 Jan 11.

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AUTORES / AUTHORS: - Anand Vasudevan, Klaske M Schukken, Erin L Sausville, Vishruth Girish, Oluwadamilare A Adebambo, Jason M Sheltzer

INSTITUCIÓN / INSTITUTION: - Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. 

RESUMEN / SUMMARY: - Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant growth has remained obscure. New evidence emerging from both basic and clinical research has illuminated a complicated relationship: despite its frequency in human tumours, aneuploidy is not a universal driver of cancer development and instead can exert substantial tumour-suppressive effects. The specific consequences of aneuploidy are highly context dependent and are influenced by a cell s genetic and environmental milieu. In this Review, we discuss the diverse facets of cancer biology that are shaped by aneuploidy, including metastasis, drug resistance and immune recognition, and we highlight aneuploidy s distinct roles as both a tumour promoter and an anticancer vulnerability.

TÍTULO / TITLE:   - Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay

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REVISTA / JOURNAL:    - Haematologica.2021 Apr 1;106(4):1106-1119. doi: 10.3324/haematol.2019.244541. Free PMC article

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AUTORES / AUTHORS: - Gatan Juban et al

INSTITUCIÓN / INSTITUTION: - MRC Molecular Haematology Unit WIMM, University of Oxford, UK. 

RESUMEN / SUMMARY: - The megakaryocyte/erythroid Transient Myeloproliferative Disorder (TMD) in newborns with Down Syndrome (DS) occurs when N-terminal truncating mutations of the hemopoietic transcription factor GATA1, that produce GATA1short protein (GATA1s), are acquired early in development. Prior work has shown that murine GATA1s, by itself, causes a transient yolk sac myeloproliferative disorder. However, it is unclear where in the hemopoietic cellular hierarchy GATA1s exerts its effects to produce this myeloproliferative state. Here, through a detailed examination of hemopoiesis from murine GATA1s ES cells and GATA1s embryos we define defects in erythroid and megakaryocytic differentiation that occur relatively late in hemopoiesis. GATA1s causes an arrest late in erythroid differentiation in vivo, and even more profoundly in ES-cell derived cultures, with a marked reduction of Ter-119 cells and reduced erythroid gene expression. In megakaryopoiesis, GATA1s causes a differentiation delay at a specific stage, with accumulation of immature, kit-expressing CD41hi megakaryocytic cells. In this specific megakaryocytic compartment, there are increased numbers of GATA1s cells in S-phase of cell cycle and reduced number of apoptotic cells compared to GATA1 cells in the same cell compartment. There is also a delay in maturation of these immature GATA1s megakaryocytic lineage cells compared to GATA1 cells at the same stage of differentiation. Finally, even when GATA1s megakaryocytic cells mature, they mature aberrantly with altered megakaryocyte-specific gene expression and activity of the mature megakaryocyte enzyme, acetylcholinesterase. These studies pinpoint the hemopoietic compartment where GATA1s megakaryocyte myeloproliferation occurs, defining where molecular studies should now be focussed to understand the oncogenic action of GATA1s.

TÍTULO / TITLE:   - Mapping the cellular origin and early evolution of leukemia in Down syndrome

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REVISTA / JOURNAL:    - Science.2021 Jul 9;373(6551):eabf6202. doi: 10.1126/science.abf6202.

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AUTORES / AUTHORS: - Elvin Wagenblast et al

INSTITUCIÓN / INSTITUTION: - Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1L7, Canada.  

RESUMEN / SUMMARY: - Children with Down syndrome have a 150-fold increased risk of developing myeloid leukemia, but the mechanism of predisposition is unclear. Because Down syndrome leukemogenesis initiates during fetal development, we characterized the cellular and developmental context of preleukemic initiation and leukemic progression using gene editing in human disomic and trisomic fetal hematopoietic cells and xenotransplantation. GATA binding protein 1 (GATA1) mutations caused transient preleukemia when introduced into trisomy 21 long-term hematopoietic stem cells, where a subset of chromosome 21 microRNAs affected predisposition to preleukemia. By contrast, progression to leukemia was independent of trisomy 21 and originated in various stem and progenitor cells through additional mutations in cohesin genes. CD117+/KIT proto-oncogene (KIT) cells mediated the propagation of preleukemia and leukemia, and KIT inhibition targeted preleukemic stem cells.

TÍTULO / TITLE:   - Minimal residual disease, long-term outcome, and IKZF1 deletions in children and adolescents with Down syndrome and acute lymphocytic leukaemia: a matched cohort study

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REVISTA / JOURNAL:    - Lancet Haematol.2021 Oct;8(10):e700-e710. doi: 10.1016/S2352-3026(21)00272-6. Free PMC article

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AUTORES / AUTHORS: - Naomi Michels et al

INSTITUCIÓN / INSTITUTION: - Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands; Oncode Institute, Utrecht, Netherlands; Department of Pediatric Oncology and Hematology, Erasmus Medical Center-Sophia Children s Hospital, Rotterdam, Netherlands. 

RESUMEN / SUMMARY: - Background: Patients with Down syndrome and acute lymphocytic leukaemia are at an increased risk of treatment-related mortality and relapse, which is influenced by unfavourable genetic aberrations (eg, IKZF1 deletion). We aimed to investigate the potential underlying effect of Down syndrome versus the effects of adverse cancer genetics on clinical outcome. Method: Patients (aged 1-23 years) with Down syndrome and acute lymphocytic leukaemia and matched non-Down syndrome patients with acute lymphocytic leukaemia (matched controls) from eight trials (DCOG ALL10 and ALL11, ANZCHOG ALL8, AIEOP-BFM ALL2009, UKALL2003, NOPHO ALL2008, CoALL 07-03, and CoALL 08-09) done between 2002 and 2018 across various countries (the Netherlands, the UK, Australia, Denmark, Finland, Iceland, Norway, Sweden, and Germany) were included. Participants were matched (1:3) for clinical risk factors and genetics, including IKZF1 deletion. The primary endpoint was the comparison of MRD levels (absolute MRD levels were categorised into two groups, low [<0·0001] and high [≥0·0001]) between patients with Down syndrome and acute lymphocytic leukaemia and matched controls, and the secondary outcomes were comparison of long-term outcomes (event-free survival, overall survival, relapse, and treatment-related mortality [TRM]) between patients with Down syndrome and acute lymphocytic leukaemia and matched controls. Two matched cohorts were formed: for MRD analyses and for long-term outcome analyses. For both cohorts, matching was based on induction regimen; for the long-term outcome cohort, matching also included MRD-guided treatment group. We used mixed-effect models, Cox models, and competing risk for statistical analyses. Findings: Of 251 children and adolescents with Down syndrome and acute lymphocytic leukaemia, 136 were eligible for analyses and matched to 407 (of 8426) non-Down syndrome patients with acute lymphocytic leukaemia (matched controls). 113 patients with Down syndrome and acute ly

TÍTULO / TITLE:   - GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients

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REVISTA / JOURNAL:    - Int J Lab Hematol.2021 Aug;43(4):713-723. doi: 10.1111/ijlh.13451.Epub 2021 Jan 2.

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AUTORES / AUTHORS: - Agnesa Panferova et al

INSTITUCIÓN / INSTITUTION: - Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia. 

RESUMEN / SUMMARY: - Introduction: Accurate detection of GATA1 mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for GATA1 mutations; and (b) characterization of molecular landscapes for such conditions. Methods: The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the GATA1 exon 2, complemented by targeted high-throughput sequencing (HTS). Results: Acquired GATA1 mutations were identified in 43 cases (98%). Additional mutations in the genes of JAK/STAT signaling, cohesin complex, and RAS pathway activation were revealed by HTS in 48%, 36%, and 16% of the cases, respectively. Conclusions: The GATA1 mutations were reliably determined by fragment analysis and/or Sanger sequencing in a single PCR amplicon manner. For patients with extremely low blast counts and/or rare variants, the rapid screening with simple molecular approaches must be complemented with HTS. The JAK/STAT and RAS pathway-activating mutations may represent an extra option of targeted therapy with kinase inhibitors.

TÍTULO / TITLE:   - DNA Methylation Alterations in Blood Cells of Toddlers with Down Syndrome

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REVISTA / JOURNAL:    - Genes (Basel).2021 Jul 23;12(8):1115. doi: 10.3390/genes12081115. Free PMC article

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AUTORES / AUTHORS: - Oxana Yu Naumova et al.

INSTITUCIÓN / INSTITUTION: - Vavilov Institute of General Genetics RAS, 119991 Moscow, Russia. 

RESUMEN / SUMMARY: - Recent research has provided evidence on genome-wide alterations in DNA methylation patterns due to trisomy 21, which have been detected in various tissues of individuals with Down syndrome (DS) across different developmental stages. Here, we report new data on the systematic genome-wide DNA methylation perturbations in blood cells of individuals with DS from a previously understudied age group-young children. We show that the study findings are highly consistent with those from the prior literature. In addition, utilizing relevant published data from two other developmental stages, neonatal and adult, we track a quasi-longitudinal trend in the DS-associated DNA methylation patterns as a systematic epigenomic destabilization with age.

TÍTULO / TITLE:   - Post-induction MRD by FCM and GATA1-PCR are significant prognostic factors for myeloid leukemia of Down syndrome

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REVISTA / JOURNAL:    - Leukemia.2021 Sep;35(9):2508-2516. doi: 10.1038/s41375-021-01157-w.Epub 2021 Feb 15.

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AUTORES / AUTHORS: - Takashi Taga et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan 

RESUMEN / SUMMARY: - Myeloid leukemia of Down syndrome (ML-DS) is associated with good response to chemotherapy, resulting in favorable outcomes. However, no universal prognostic factors have been identified to date. To clarify a subgroup with high risk of relapse, the role of minimal residual disease (MRD) was explored in the AML-D11 trial by the Japanese Pediatric Leukemia/Lymphoma Study Group. MRD was prospectively evaluated at after induction therapy and at the end of all chemotherapy, using flow cytometry (FCM-MRD) and GATA1-targeted deep sequencing (GATA1-MRD). A total of 78 patients were eligible and 76 patients were stratified to the standard risk (SR) group by morphology. In SR patients, FCM-MRD and GATA1-MRD after induction were positive in 5/65 and 7/59 patients, respectively. Three-year event-free survival (EFS) and overall survival (OS) rates were 95.0% and 96.7% in the FCM-MRD-negative population, and 60.0% and 80.0% in the positive population. Three-year EFS and OS rates were both 98.1% in the GATA1-MRD-negative population, and 57.1% and 71.4% in the positive population. Adjusted hazard ratios for associations of FCM-MRD with EFS were 14.67 (p = 0.01). Detection of MRD by either FCM or GATA1 after initial induction therapy represents a significant prognostic factor for predicting ML-DS relapse.

TÍTULO / TITLE:   - GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients

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REVISTA / JOURNAL:    - Int J Lab Hematol.2021 Aug;43(4):713-723. doi: 10.1111/ijlh.13451.Epub 2021 Jan 2.

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AUTORES / AUTHORS: - Agnesa Panferova et al

INSTITUCIÓN / INSTITUTION: - Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia. 

RESUMEN / SUMMARY: - Introduction: Accurate detection of GATA1 mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for GATA1 mutations; and (b) characterization of molecular landscapes for such conditions. Methods: The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the GATA1 exon 2, complemented by targeted high-throughput sequencing (HTS). Results: Acquired GATA1 mutations were identified in 43 cases (98%). Additional mutations in the genes of JAK/STAT signaling, cohesin complex, and RAS pathway activation were revealed by HTS in 48%, 36%, and 16% of the cases, respectively. Conclusions: The GATA1 mutations were reliably determined by fragment analysis and/or Sanger sequencing in a single PCR amplicon manner. For patients with extremely low blast counts and/or rare variants, the rapid screening with simple molecular approaches must be complemented with HTS. The JAK/STAT and RAS pathway-activating mutations may represent an extra option of targeted therapy with kinase inhibitors.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - miRNAs in SARS-CoV 2: A Spoke in the Wheel of Pathogenesis

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REVISTA / JOURNAL:    - Curr Pharm Des.2021;27(13):1628-1641. doi: 10.2174/1381612826999201001200529.

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AUTORES / AUTHORS: - Rohit Satya et al.

INSTITUCIÓN / INSTITUTION: - Department of Biotechnology, Noida Institute of Engineering and Technology (NIET), Greater Noida, India. 

RESUMEN / SUMMARY: - Introduction: The rapid emergence of Severe Acute Respiratory Syndrome coronavirus 2 (SARS-- CoV-2) has resulted in an increased mortality rate across the globe. However, the underlying mechanism of SARS-CoV-2 altering human immune response is still elusive. The existing literature on miRNA mediated pathogenesis of RNA virus viz. Dengue virus, West Nile virus, etc. raises a suspicion that miRNA encoded by SARS-CoV-2 might facilitate virus replication and regulate the host s gene expression at the post-transcriptional level. Methods: We investigated this possibility via computational prediction of putative miRNAs encoded by the SARS-CoV-2 genome using a novel systematic pipeline that predicts putative mature-miRNA and their targeted genes transcripts. To trace down if viral-miRNAs targeted the genes critical to the immune pathway, we assessed whether mature miRNA transcripts exhibit effective hybridization with the 3 UTR region of human gene transcripts. Conversely, we also tried to study human miRNA-mediated viral gene regulation to get insight into the miRNA mediated offense and defense mechanism of virus and its host organisms in toto. Results: Our analysis led us to shortlist six putative miRNAs that target, majorly, genes related to cell proliferation/ differentiation/signaling, and senescence. Nonetheless, they also target immune-related genes that directly/ indirectly orchestrate immune pathways like TNF (Tumor Necrosis Factor) signaling and Chemokine signaling pathways putatively serving as the nucleus to cytokine storms. Conclusion: Besides, these six miRNAs were found to be conserved so far across 80 complete genomes of SARS-CoV-2 (NCBI Virus, last assessed 12 April 2020) including Indian strains that are also targeted by 7 human miRNAs and can, therefore, be exploited to develop MicroRNA-Attenuated Vaccines.

TÍTULO / TITLE:   - Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

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REVISTA / JOURNAL:    - J Clin Immunol.2021 Oct;41(7):1457-1462. doi: 10.1007/s10875-021-01078-4.Epub 2021 Jun 5. Free PM

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AUTORES / AUTHORS: - Louise Malle et al

INSTITUCIÓN / INSTITUTION: - Center for Inborn Errors of Immunity, Icahn School of Medicine At Mount Sinai, New York, NY, USA. 

RESUMEN / SUMMARY: - While adults with Down syndrome (DS) are at increased risk of severe COVID-19 pneumonia, little is known about COVID-19 in children with DS. In children without DS, SARS-CoV-2 can rarely cause severe COVID-19 pneumonia, or an even rarer and more typically pediatric condition, multisystem inflammatory syndrome in children (MIS-C). Although the underlying mechanisms are still unknown, MIS-C is thought to be primarily immune-mediated. Here, we describe an atypical, severe form of MIS-C in two infant girls with DS who were hospitalized for over 4 months. Immunological evaluation revealed pronounced neutrophilia, B cell depletion, increased circulating IL-6 and IL-8, and elevated markers of immune activation ICAM1 and FcɣRI. Importantly, uninfected children with DS presented with similar but less stark immune features at steady state, possibly explaining risk of further uncontrolled inflammation following SARS-CoV-2 infection. Overall, a severe, atypical form of MIS-C may occur in children with DS.

TÍTULO / TITLE:   - [Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2]

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REVISTA / JOURNAL:    - Andes Pediatr.2021 Apr;92(2):309-315. doi: 10.32641/andespediatr.v92i2.3716.

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AUTORES / AUTHORS: - Victor Faundes et al

INSTITUCIÓN / INSTITUTION: - instituto de nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Chile 

RESUMEN / SUMMARY: - In the framework of the vaccination campaign against the SARS-CoV-2 virus, the Chilean Ministry of Health requested advice from the Genetics Branch of the Chilean Society of Pediatrics, to define the level of prioritization for people with Down Syndrome . A panel of geneticists worked on the development of this consensus, in which not only patients with Down syndrome were included, but the search was extended to patients with other types of disabilities, in both pediatric and adult ages in or der to contribute to the development of public health measures against the COVID-19 pandemic. The consensus concludes that, given the prevalence of comorbidities associated with Down syndrome, the higher incidence of cases with severe COVID-19 in this population group and a higher mortality, individuals with trisomy 21 should be considered as a high-risk population, and therefore, vaccina tion against SARS-CoV-2 should have a high priority for all people with Down syndrome regardless of their age (except for the age limit established by the clinical trials of each vaccine), and should be preceded only by the groups of health personnel and adults aged > 60-65 years. Likewise, this group of experts urges health authorities to include people with intellectual disabilities and related conditions as a priority population (other chromosomal abnormalities other than Down syndrome, intellectual disability, congenital anomalies and conditions that cause disability with microcephaly), as well as the caregivers of people with this type of conditions. Vaccination in children with this type of disorders should be considered as part of the first priority group, once safe vaccines against SARS-CoV-2 are available for use in children and adolescents.

TÍTULO / TITLE:   - SARS-CoV-2 Triggering Severe Acute Respiratory Distress Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in a 3-Year-Old Child With Down Syndrome

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REVISTA / JOURNAL:    - J Pediatric Infect Dis Soc.2021 Apr 30;10(4):543-546. doi: 10.1093/jpids/piaa148. Free PMC article

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AUTORES / AUTHORS: - Sarah Kim-Hellmuth et al

INSTITUCIÓN / INSTITUTION: - Dr von Hauner Children s Hospital, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany. 

RESUMEN / SUMMARY: - Down syndrome (DS) predisposes to severe immunologic reaction secondary to infectious triggers. Here, we report a pediatric DS patient with coronavirus disease 2019 (COVID-19) who developed a hyperinflammatory syndrome, severe acute respiratory distress syndrome, and secondary hemophagocytic lymphohistiocytosis requiring pediatric intensive care unit admission and treatment with steroids, intravenous immunoglobulin, and remdesivir. Investigations into genetic susceptibilities for COVID-19 and severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-associated complications warrant systematic clinical and scientific studies. We report a pediatric Down syndrome patient with coronavirus disease 2019 (COVID-19) who developed secondary hemophagocytic lymphohistiocytosis requiring treatment with steroids, intravenous immunoglobulin, and remdesivir. Investigations into genetic susceptibilities for COVID-19-associated complications warrant systematic clinical and scientific studies.

TÍTULO / TITLE:   - Post-infectious inflammatory syndrome associated with SARS-CoV-2 in a paediatric patient with Down syndrome

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REVISTA / JOURNAL:    - BMJ Case Rep.2021 Apr 15;14(4):e240490. doi: 10.1136/bcr-2020-240490. Free PMC article

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AUTORES / AUTHORS: - Mellad Khoshnood et al

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

RESUMEN / SUMMARY: - Neurological complications of SARS-CoV-2 continue to be recognised. In children, neurological phenomenon has been reported generally in the acute infectious period. It is possible that SARS-CoV-2 could trigger an immune-mediated post-infectious phenomenon. Here, we present a unique case of post-infectious marantic cardiac lesion causing cerebrovascular accident in a patient with Down syndrome.

TÍTULO / TITLE:   - Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

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REVISTA / JOURNAL:    - J Clin Immunol.2021 Oct;41(7):1457-1462. doi: 10.1007/s10875-021-01078-4.Epub 2021 Jun 5. Free PM

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AUTORES / AUTHORS: - Louise Malle et al

INSTITUCIÓN / INSTITUTION: - Center for Inborn Errors of Immunity, Icahn School of Medicine At Mount Sinai, New York, NY, USA. 

RESUMEN / SUMMARY: - While adults with Down syndrome (DS) are at increased risk of severe COVID-19 pneumonia, little is known about COVID-19 in children with DS. In children without DS, SARS-CoV-2 can rarely cause severe COVID-19 pneumonia, or an even rarer and more typically pediatric condition, multisystem inflammatory syndrome in children (MIS-C). Although the underlying mechanisms are still unknown, MIS-C is thought to be primarily immune-mediated. Here, we describe an atypical, severe form of MIS-C in two infant girls with DS who were hospitalized for over 4 months. Immunological evaluation revealed pronounced neutrophilia, B cell depletion, increased circulating IL-6 and IL-8, and elevated markers of immune activation ICAM1 and FcɣRI. Importantly, uninfected children with DS presented with similar but less stark immune features at steady state, possibly explaining risk of further uncontrolled inflammation following SARS-CoV-2 infection. Overall, a severe, atypical form of MIS-C may occur in children with DS.

TÍTULO / TITLE:   - Sound prescriptions to mitigate the effects of COVID-19 in the population with Down syndrome

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REVISTA / JOURNAL:    - Neurol Sci.2021 Aug;42(8):3087-3088. doi: 10.1007/s10072-021-05315-x.Epub 2021 May 26. Free PMC a

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AUTORES / AUTHORS: - Sergio Verd et al

INSTITUCIÓN / INSTITUTION: - Pediatric Unit, Department of Primary Care, La Vileta Surgery, Matamusinos Street, 07013, Palma de Mallorca, Spain.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform

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REVISTA / JOURNAL:    - BMJ.2021 Jul 14;374:n1592.doi: 10.1136/bmj.n1592. Free PMC article

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AUTORES / AUTHORS: - Elizabeth J Williamson et al

INSTITUCIÓN / INSTITUTION: - London School of Hygiene and Tropical Medicine, London, UK. 

RESUMEN / SUMMARY: - Objective: To assess the association between learning disability and risk of hospital admission and death from covid-19 in England among adults and children. Design: Population based cohort study on behalf of NHS England using the OpenSAFELY platform. Setting: Patient level data were obtained for more than 17 million people registered with a general practice in England that uses TPP software. Electronic health records were linked with death data from the Office for National Statistics and hospital admission data from NHS Secondary Uses Service. Participants: Adults (aged 16-105 years) and children (<16 years) from two cohorts: wave 1 (registered with a TPP practice as of 1 March 2020 and followed until 31 August 2020); and wave 2 (registered 1 September 2020 and followed until 8 February 2021). The main exposure group consisted of people on a general practice learning disability register; a subgroup was defined as those having profound or severe learning disability. People with Down s syndrome and cerebral palsy were identified (whether or not they were on the learning disability register). Main outcome measure: Covid-19 related hospital admission and covid-19 related death. Non-covid-19 deaths were also explored. Results: For wave 1, 14 312 023 adults aged ≥16 years were included, and 90 307 (0.63%) were on the learning disability register. Among adults on the register, 538 (0.6%) had a covid-19 related hospital admission; there were 222 (0.25%) covid-19 related deaths and 602 (0.7%) non-covid deaths. Among adults not on the register, 29 781 (0.2%) had a covid-19 related hospital admission; there were 13 737 (0.1%) covid-19 related deaths and 69 837 (0.5%) non-covid deaths. Wave 1 hazard ratios for adults on the learning disability register (adjusted for age, sex, ethnicity, and geographical location) were 5.3 (95% confidence interval 4.9 to 5.8) for covid-19 related hospital admission and 8.2 (7.2 to 9.4) for covid-19 related death. Wave 2 produced similar e

TÍTULO / TITLE:   - SARS-CoV-2 Related Ischemic Colitis in an Adolescent With Trisomy 21: Diagnostic Pitfalls and Considerations

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REVISTA / JOURNAL:    - Pediatr Dev Pathol.Sep-Oct 2021;24(5):445-449. doi: 10.1177/10935266211015666.Epub 2021 May 28.

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AUTORES / AUTHORS: - Y Ma et al

INSTITUCIÓN / INSTITUTION: - School of Medicine, Creighton University, Phoenix, Arizona. 

RESUMEN / SUMMARY: - Millions of patients seek medical attention for diarrhea, vomiting, nausea, and abdominal pain. In the current environment, it is important to recognize that these symptoms may be the only manifestation or may precede more serious systemic complications of COVID-19. Herein, we describe the first case of ischemic colitis (IC) in a young adult who presented with diarrhea and highlight the laboratory pitfalls for patients with COVID-19 presenting with gastrointestinal (GI) symptoms.

TÍTULO / TITLE:   - Cerebral venous thrombosis in a patient with Down syndrome and coronavirus disease 2019: a case report

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REVISTA / JOURNAL:    - J Med Case Rep.2021 Jul 12;15(1):364.doi: 10.1186/s13256-021-02908-0. Free PMC article

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AUTORES / AUTHORS: - Henry Robayo-Amortegui et al

INSTITUCIÓN / INSTITUTION: - Critical Medicine and Intensive Care Resident, Universidad de la SabanaFundación Clínica Shaio, Bogotá, Colombia. 

RESUMEN / SUMMARY: - Background: The new coronavirus disease 2019 pandemic has spread throughout most of the world. Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. Case presentation: We report the case of a Hispanic woman with Down syndrome who has coronavirus disease 2019 and presents as a complication extensive cerebral venous thrombosis. Conclusions: Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. In the absence of clinical and epidemiological data, it is important to carry out further investigation of the risk factors and pathophysiological causes related to the development of cerebrovascular thrombotic events in patients with Down syndrome with coronavirus disease 2019 infection.

TÍTULO / TITLE:   - Molecular basis of immunoglobulin heavy constant G4 gene ( IGHG4)-related low serum IgG4 subclasses in Down syndrome

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REVISTA / JOURNAL:    - Saudi Med J. 2021 Sep;42(9):975-980. doi: 10.15537/smj.2021.42.9.20210030. Free article

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AUTORES / AUTHORS: - Mohammed A Jeraiby

INSTITUCIÓN / INSTITUTION: - Department of Biochemistry, Faculty of Medicine, Jazan University, Jazan, Kingdom of Saudi Arabia. 

RESUMEN / SUMMARY: - Objectives: To investigate the molecular mechanism of low serum IgG4 at the level of the immunoglobulin heavy constant G4 gene (IGHG4). Patients with Down syndrome (DS) are more likely to exhibit immunological abnormalities that predispose them to infection. Among other anomalies, individuals with DS have altered serum concentrations of some subclasses of immunoglobulin G (IgG), particularly the IgG4 subclasses. Methods: In this prospective study, quantitative real-time polymerase chain reaction (qPCR) was carried out from December 2017 to June 2019 in the University Hospital of Saint-Etienne, Saint-Etienne, France to measure the number of IGHG4 copies and to compare those outcomes with a reference gene (36B4). An IGHG4/36B4 ratio was considered normal when between 0.8 and 1.2. Forty-four DS patients, comprising 23 DS patients carrying severe low serum IgG4 and 21 DS patients with normal serum IgG4 (level >0.1 g/L). The patient group was compared with 38 healthy donors (controls) without DS. Results: The heavy chain gene IGHG4 heterozygous deletion was found in 16 (69.57%) DS patients with low serum IgG4 versus in 2 (9.52%) DS with normal serum IgG4 (p=0.0001). In the control group, deletion was found in 5.26% (2/38) of the sample. Conclusion: The heavy chain gene IGHG4 haploinsufficiency is highly correlated with low serum IgG4 in our population with DS, but other relevant factors must be assessed in future work.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Fission Yeast Methylenetetrahydrofolate Reductase Ensures Mitotic and Meiotic Chromosome Segregation Fidelity

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REVISTA / JOURNAL:    - Int J Mol Sci.2021 Jan 11;22(2):639. doi: 10.3390/ijms22020639. Free PMC article

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AUTORES / AUTHORS: - Kim Kiat Lim et al

INSTITUCIÓN / INSTITUTION: - Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117596, Singapore. 

RESUMEN / SUMMARY: - Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate metabolic pathway, and its loss of function through polymorphisms is often associated with human conditions, including cancer, congenital heart disease, and Down syndrome. MTHFR is also required in the maintenance of heterochromatin, a crucial determinant of genomic stability and precise chromosomal segregation. Here, we characterize the function of a fission yeast gene met11+, which encodes a protein that is highly homologous to the mammalian MTHFR. We show that, although met11+ is not essential for viability, its disruption increases chromosome missegregation and destabilizes constitutive heterochromatic regions at pericentromeric, sub-telomeric and ribosomal DNA (rDNA) loci. Transcriptional silencing at these sites were disrupted, which is accompanied by the reduction in enrichment of histone H3 lysine 9 dimethylation (H3K9me2) and binding of the heterochromatin protein 1 (HP1)-like Swi6. The met11 null mutant also dominantly disrupts meiotic fidelity, as displayed by reduced sporulation efficiency and defects in proper partitioning of the genetic material during meiosis. Interestingly, the faithful execution of these meiotic processes is synergistically ensured by cooperation among Met11, Rec8, a meiosis-specific cohesin protein, and the shugoshin protein Sgo1, which protects Rec8 from untimely cleavage. Overall, our results suggest a key role for Met11 in maintaining pericentromeric heterochromatin for precise genetic inheritance during mitosis and meiosis.

TÍTULO / TITLE:   - Role of DSCAM in the Development of Neural Control of Movement and Locomotion

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REVISTA / JOURNAL:    - Int J Mol Sci. 2021 Aug 7;22(16):8511. doi: 10.3390/ijms22168511. Free PMC article

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AUTORES / AUTHORS: - Maxime Lemieux et al.

INSTITUCIÓN / INSTITUTION: - Centre de Recherche du Centre Hospitalier Universitaire de Québec, CHUL-Neurosciences P09800, 2705 boul. Laurier, Québec, QC G1V 4G2, Canada. 

RESUMEN / SUMMARY: - Locomotion results in an alternance of flexor and extensor muscles between left and right limbs generated by motoneurons that are controlled by the spinal interneuronal circuit. This spinal locomotor circuit is modulated by sensory afferents, which relay proprioceptive and cutaneous inputs that inform the spatial position of limbs in space and potential contacts with our environment respectively, but also by supraspinal descending commands of the brain that allow us to navigate in complex environments, avoid obstacles, chase prey, or flee predators. Although signaling pathways are important in the establishment and maintenance of motor circuits, the role of DSCAM, a cell adherence molecule associated with Down syndrome, has only recently been investigated in the context of motor control and locomotion in the rodent. DSCAM is known to be involved in lamination and delamination, synaptic targeting, axonal guidance, dendritic and cell tiling, axonal fasciculation and branching, programmed cell death, and synaptogenesis, all of which can impact the establishment of motor circuits during development, but also their maintenance through adulthood. We discuss herein how DSCAM is important for proper motor coordination, especially for breathing and locomotion.

TÍTULO / TITLE:   - Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery

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REVISTA / JOURNAL:    - Nat Commun.2021 Jul 13;12(1):4284. doi: 10.1038/s41467-021-24426-9. Free PMC article

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AUTORES / AUTHORS: - Corvin Walter et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The translocase of the outer mitochondrial membrane TOM constitutes the organellar entry gate for nearly all precursor proteins synthesized on cytosolic ribosomes. Thus, TOM presents the ideal target to adjust the mitochondrial proteome upon changing cellular demands. Here, we identify that the import receptor TOM70 is targeted by the kinase DYRK1A and that this modification plays a critical role in the activation of the carrier import pathway. Phosphorylation of TOM70Ser91 by DYRK1A stimulates interaction of TOM70 with the core TOM translocase. This enables transfer of receptor-bound precursors to the translocation pore and initiates their import. Consequently, loss of TOM70Ser91 phosphorylation results in a strong decrease in import capacity of metabolite carriers. Inhibition of DYRK1A impairs mitochondrial structure and function and elicits a protective transcriptional response to maintain a functional import machinery. The DYRK1A-TOM70 axis will enable insights into disease mechanisms caused by dysfunctional DYRK1A, including autism spectrum disorder, microcephaly and Down syndrome.

TÍTULO / TITLE:   - Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview

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AUTORES / AUTHORS: - Marta Ferrari,Stefano Stagi

INSTITUCIÓN / INSTITUTION: - Department of Health Sciences, University of Florence, Anna Meyer Children s University Hospital, 50139 Florence, Italy. 

RESUMEN / SUMMARY: - Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxidative damage to macromolecules, aberrant signaling, and inflammation can occur. Down syndrome (DS) and Williams-Beuren syndrome (WBS) are well-known and common genetic conditions with multi-systemic involvement. Their etiology is linked to oxidative stress with important causative genes, such as SOD-1 and NCF-1, respectively, of the diseases being primarily involved in the regulation of the redox state. Early aging, dementia, autoimmunity, and chronic inflammation are some of the main characteristics of these conditions that can be associated with oxidative stress. In recent decades, there has been a growing interest in the possible role of oxidative stress and inflammation in the pathology of these conditions. However, at present, few studies have investigated these correlations. We provide an overview of the current literature concerning the role of oxidative stress and oxidative damage in genetic syndromes with a focus on Down syndrome and WBS. We hope to provide new insights to improve the management of complications related to these diseases.

TÍTULO / TITLE:   - Trisomy 21 results in modest impacts on mitochondrial function and central carbon metabolism

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REVISTA / JOURNAL:    - Free Radic Biol Med.2021 Aug 20;172:201-212. doi: 10.1016/j.freeradbiomed.2021.06.003.Epub 2021 Ju

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AUTORES / AUTHORS: - Colin C Anderson et al

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic cause of intellectual disability. Mechanistically, oxidative stress and mitochondrial dysfunction are reported to be etiological factors for many of the DS-related comorbidities and have previously been reported in a number of in vitro and in vivo models of DS. The purpose of this study was to test for the presence of mitochondrial dysfunction in fibroblast cells obtained via skin biopsy from individuals with DS, and to assess the impact of trisomy 21 on central carbon metabolism. Using extracellular flux assays in matched dermal fibroblasts from euploid and DS individuals, we found that basal mitochondrial dysfunction is quite mild. Stressing the cells with a cocktail of mitochondrial stressors revealed a significant mitochondrial deficit in DS cells compared to euploid controls. Evaluation of extracellular acidification rate did not reveal a baseline abnormality in glycolysis; however, metabolomic assessments utilizing isotopically labeled glucose and glutamine revealed altered central carbon metabolism in DS cells. Specifically, we observed greater glucose dependency, uptake and flux into the oxidative phase of the pentose phosphate pathway in DS fibroblasts. Furthermore, using induced pluripotent stem cells (iPSC) we found that mitochondrial function in DS iPSCs was similar to the previously published studies employing fetal cells. Together, these data indicate that aberrant central carbon metabolism is a candidate mechanism for stress-related mitochondrial dysfunction in DS.

TÍTULO / TITLE:   - Structure of cell-cell adhesion mediated by the Down syndrome cell adhesion molecule

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REVISTA / JOURNAL:    - Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2022442118. doi: 10.1073/pnas.2022442118.

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AUTORES / AUTHORS: - Luqiang Guo et al

INSTITUCIÓN / INSTITUTION: - Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 201210, China. 

RESUMEN / SUMMARY: - The Down syndrome cell adhesion molecule (DSCAM) belongs to the immunoglobulin superfamily (IgSF) and plays important roles in neural development. It has a large ectodomain, including 10 Ig-like domains and 6 fibronectin III (FnIII) domains. Previous data have shown that DSCAM can mediate cell adhesion by forming homophilic dimers between cells and contributes to self-avoidance of neurites or neuronal tiling, which is important for neural network formation. However, the organization and assembly of DSCAM at cell adhesion interfaces has not been fully understood. Here we combine electron microscopy and other biophysical methods to characterize the structure of the DSCAM-mediated cell adhesion and generate three-dimensional views of the adhesion interfaces of DSCAM by electron tomography. The results show that mouse DSCAM forms a regular pattern at the adhesion interfaces. The Ig-like domains contribute to both trans homophilic interactions and cis assembly of the pattern, and the FnIII domains are crucial for the cis pattern formation as well as the interaction with the cell membrane. By contrast, no obvious assembly pattern is observed at the adhesion interfaces mediated by mouse DSCAML1 or Drosophila DSCAMs, suggesting the different structural roles and mechanisms of DSCAMs in mediating cell adhesion and neural network formation.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Neuronal excitatory-to-inhibitory balance is altered in cerebral organoid models of genetic neurological diseases

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REVISTA / JOURNAL:    - Mol Brain.2021 Oct 11;14(1):156. doi: 10.1186/s13041-021-00864-w. Free article

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AUTORES / AUTHORS: - Simote T Foliaki et al

INSTITUCIÓN / INSTITUTION: - Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, 59840, USA. 

RESUMEN / SUMMARY: - The neuro-physiological properties of individuals with genetic pre-disposition to neurological disorders are largely unknown. Here we aimed to explore these properties using cerebral organoids (COs) derived from fibroblasts of individuals with confirmed genetic mutations including PRNPE200K, trisomy 21 (T21), and LRRK2G2019S, which are associated with Creutzfeldt Jakob disease, Down Syndrome, and Parkinson s disease. We utilized no known disease/healthy COs (HC) as normal function controls. At 3-4 and 6-10 months post-differentiation, COs with mutations showed no evidence of disease-related pathology. Electrophysiology assessment showed that all COs exhibited mature neuronal firing at 6-10 months old. At this age, we observed significant changes in the electrophysiology of the COs with disease-associated mutations (dCOs) as compared with the HC, including reduced neuronal network communication, slowing neuronal oscillations, and increased coupling of delta and theta phases to the amplitudes of gamma oscillations. Such changes were linked with the detection of hypersynchronous events like spike-and-wave discharges. These dysfunctions were associated with altered production and release of neurotransmitters, compromised activity of excitatory ionotropic receptors including receptors of kainate, AMPA, and NMDA, and changed levels and function of excitatory glutamatergic synapses and inhibitory GABAergic synapses. Neuronal properties that modulate GABAergic inhibition including the activity of Na-K-Cl cotransport 1 (NKCC1) in Cl- homeostasis and the levels of synaptic and extra-synaptic localization of GABA receptors (GABARs) were altered in the T21 COs only. The neurosteroid allopregnanolone, a positive modulator of GABARs, was downregulated in all the dCOs. Treatment with this neurosteroid significantly improved the neuronal communication in the dCOs, possibly through improving the GABAergic inhibition. Overall, without the manifestation of any disease-related patholog

TÍTULO / TITLE:   - METTL3-Mediated N6-Methyladenosine Modification Is Involved in the Dysregulation of NRIP1 Expression in Down Syndrome

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REVISTA / JOURNAL:    - Front Cell Dev Biol.2021 Apr 1;9:621374. doi: 10.3389/fcell.2021.621374.eCollection 2021. Free PMC

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AUTORES / AUTHORS: - Weili Shi et al.

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

RESUMEN / SUMMARY: - Down syndrome (DS) is a common genetic condition in which a person is born with an extra copy of chromosome 21. Intellectual disability is the most common characteristic of DS. N6-methyladenosine (m6A) is a common RNA modification that is implicated in many biological processes. It is highly enriched within the brain and plays an essential role in human brain development. However, the mRNA m6A modification in the fetal brain of DS has not been explored. Here, we report m6A mRNA profiles and mRNA expression profiles of fetal brain cortex tissue from DSs and controls. We observed that the m6A modification in DS brain tissues was reduced genome-wide, which may be due to decreased the m6A methyltransferase like 3 (METTL3) protein expression. The nuclear receptor-interacting protein 1 (NRIP1/RIP140) is coded by a highly conserved chromosome 21 (Hsa21) gene. Overexpression of NRIP1 is associated with mitochondrial dysfunction in DS. The NRIP1 mRNA increased in fetal brain tissues of DS, whereas the m6A modification of the NRIP1 mRNA significantly decreased. METTL3 knockdown reduced the m6A modification of NRIP1 mRNA and increased its expression, and an increase in NRIP1 m6A modification and a decrease in its expression were observed in METTL3-overexpressed cells. The Luciferase reporter assay confirmed that METTL3 regulates NRIP1 expression in an m6A-dependent manner. The decay rate of NRIP1 mRNA was significantly reduced in METTL3-knockdown cells but increased in METTL3-overexpressed cells. We proposed that the m6A modification of NRIP1 mRNA in DS fetal brain tissue is reduced, reducing its transcript degradation rate, resulting in abnormally increased expression of NRIP1, at least partially, in the DS brain. It provides a new mechanism for the molecular pathology of DS and leads to a new insight that may become therapeutically relevant.

TÍTULO / TITLE:   - Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

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REVISTA / JOURNAL:    - PLoS Genet.2021 Sep 29;17(9):e1009777.doi: 10.1371/journal.pgen.1009777.eCollection 2021 Sep. Free

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AUTORES / AUTHORS: - Vronique Brault et al.

INSTITUCIÓN / INSTITUTION: - Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France. 

RESUMEN / SUMMARY: - Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function mutations in the DYRK1A gene, located on human chromosome 21 (Hsa21,) lead to an intellectual disability syndrome associated with microcephaly, epilepsy, and autistic troubles. Overexpression of DYRK1A, on the other hand, has been linked with learning and memory defects observed in people with Down syndrome (DS). Dyrk1a is expressed in both glutamatergic and GABAergic neurons, but its impact on each neuronal population has not yet been elucidated. Here we investigated the impact of Dyrk1a gene copy number variation in glutamatergic neurons using a conditional knockout allele of Dyrk1a crossed with the Tg(Camk2-Cre)4Gsc transgenic mouse. We explored this genetic modification in homozygotes, heterozygotes and combined with the Dp(16Lipi-Zbtb21)1Yey trisomic mouse model to unravel the consequence of Dyrk1a dosage from 0 to 3, to understand its role in normal physiology, and in MRD7 and DS. Overall, Dyrk1a dosage in postnatal glutamatergic neurons did not impact locomotor activity, working memory or epileptic susceptibility, but revealed that Dyrk1a is involved in long-term explicit memory. Molecular analyses pointed at a deregulation of transcriptional activity through immediate early genes and a role of DYRK1A at the glutamatergic post-synapse by deregulating and interacting with key post-synaptic proteins implicated in mechanism leading to long-term enhanced synaptic plasticity. Altogether, our work gives important information to understand the action of DYRK1A inhibitors and have a better therapeutic approach.

TÍTULO / TITLE:   - Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of Down syndrome mouse models

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REVISTA / JOURNAL:    - Biochem Biophys Res Commun.2021 Jan 8;535:87-92. doi: 10.1016/j.bbrc.2020.12.026.Epub 2020 Dec 18.

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AUTORES / AUTHORS: - Ryohei Shimizu

INSTITUCIÓN / INSTITUTION: - Department of Pathological Biochemistry, Division of Pathological Sciences, Kyoto Pharmaceutical University, Kyoto, 607-8414, Japan 

RESUMEN / SUMMARY: - Down syndrome (DS, Trisomy 21) is the most common genetic cause of delayed fetal brain development and postnatal intellectual disability. Although delayed fetal brain development might be involved in intellectual disability, no evidence of an association between these abnormal phenotypes has been shown. To identify molecules differentially expressed in both the prenatal forebrain and adult hippocampus of Ts1Cje mice, a mouse model of DS, we employed a transcriptomic analysis. In the present study, we conducted transcriptomic profiling of the hippocampus of adult Ts1Cje mice and compared the results with the previously obtained transcriptomic profile of the prenatal forebrain at embryonic day 14.5. Results showed that the Tbx1 mRNA expression was decreased at both life stages. In addition, the decreased expression of Tbx1 mRNA was confirmed in other DS mouse models, Dp(16)1Yey/+ and Ts1Rhr mice, which carry longer and shorter trisomic regions, respectively. Taken together, these findings suggest that Tbx1 may link the delayed fetal brain development and intellectual disability in DS.

TÍTULO / TITLE:   - A novel inhibitor rescues cerebellar defects in a zebrafish model of Down syndrome-associated kinase Dyrk1A overexpression

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REVISTA / JOURNAL:    - J Biol Chem.2021 Jul;297(1):100853. doi: 10.1016/j.jbc.2021.100853.Epub 2021 Jun 4. Free PMC artic

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AUTORES / AUTHORS: - Astrid Buchberger et al

INSTITUCIÓN / INSTITUTION: - Division of Cellular and Molecular Neurobiology, Zoological Institute, Technische Universität Braunschweig, Braunschweig, Germany. 

RESUMEN / SUMMARY: - The highly conserved dual-specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) plays crucial roles during central nervous system development and homeostasis. Furthermore, its hyperactivity is considered responsible for some neurological defects in individuals with Down syndrome. We set out to establish a zebrafish model expressing human Dyrk1A that could be further used to characterize the interaction between Dyrk1A and neurological phenotypes. First, we revealed the prominent expression of dyrk1a homologs in cerebellar neurons in the zebrafish larval and adult brains. Overexpression of human dyrk1a in postmitotic cerebellar Purkinje neurons resulted in a structural misorganization of the Purkinje cells in cerebellar hemispheres and a compaction of this cell population. This impaired Purkinje cell organization was progressive, leading to an age-dependent dispersal of Purkinje neurons throughout the cerebellar molecular layer with larval swim deficits resulting in miscoordination of swimming and reduced exploratory behavior in aged adults. We also found that the structural misorganization of the larval Purkinje cell layer could be rescued by pharmacological treatment with Dyrk1A inhibitors. We further reveal the in vivo efficiency of a novel selective Dyrk1A inhibitor, KuFal194. These findings demonstrate that the zebrafish is a well-suited vertebrate organism to genetically model severe neurological diseases with single cell type specificity. Such models can be used to relate molecular malfunction to cellular deficits, impaired tissue formation, and organismal behavior and can also be used for pharmacological compound testing and validation.

TÍTULO / TITLE:   - : Insulin resistance, oxidative stress and mitochondrial defects in Ts65dn mice brain: A harmful synergistic path in Down syndrome

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REVISTA / JOURNAL:    - Free Radic Biol Med.2021 Mar;165:152-170. doi: 10.1016/j.freeradbiomed.2021.01.042.Epub 2021 Jan 2

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AUTORES / AUTHORS: - Chiara Lanzillotta et al.

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

RESUMEN / SUMMARY: - Dysregulation of brain insulin signaling with reduced downstream neuronal survival and plasticity mechanisms are fundamental abnormalities observed in Alzheimer disease (AD). This phenomenon, known as brain insulin resistance, is associated with poor cognitive performance and is driven by the inhibition of IRS1. Since Down syndrome (DS) and AD neuropathology share many common features, we investigated metabolic aspects of neurodegeneration in DS and whether they contribute to early onset AD in DS. We evaluated levels and activation of proteins belonging to the insulin signaling pathway (IR, IRS1, BVR-A, MAPK, PTEN, Akt, GSK3β, PKCζ, AS160, GLUT4) in the frontal cortex of Ts65dn (DS model) (n = 5-6/group) and euploid mice (n = 6/group) at different ages (1, 3, 9 and 18 months). Furthermore, we analyzed whether changes of brain insulin signaling were associated with alterations of: (i) proteins regulating brain energy metabolism (mitochondrial complexes, hexokinase-II, Sirt1); (ii) oxidative stress (OS) markers (iii) APP cleavage; and (iv) proteins mediating synaptic plasticity mechanisms (PSD95, syntaxin-1 and BDNF). Ts65dn mice showed an overall impairment of the above-mentioned pathways, mainly characterized by defects of proteins activation state. Such alterations start early in life (at 1 month, during brain maturation). In particular, accumulation of inhibited IRS1, together with the uncoupling among the proteins downstream from IRS1 (brain insulin resistance), characterize Ts65dn mice. Furthermore, reduced levels of mitochondrial complexes and Sirt1, as well as increased indices of OS also were observed. These alterations precede the accumulation of APP-C99 in Ts65dn mice. Tellingly, oxidative stress levels were negatively associated with IR, IRS1 and AS160 activation as well as mitochondrial complexes levels in Ts65dn mice, suggesting a role for oxidative stress in the observed alterations. We propose that a close link exists among brain insulin resi

TÍTULO / TITLE:   - A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome

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REVISTA / JOURNAL:    - Commun Biol.2021 Jun 14;4(1):730. doi: 10.1038/s42003-021-02242-7. Free PMC article

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AUTORES / AUTHORS: - Keiji Kawatani et al

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

RESUMEN / SUMMARY: - Astrocytes exert adverse effects on the brains of individuals with Down syndrome (DS). Although a neurogenic-to-gliogenic shift in the fate-specification step has been reported, the mechanisms and key regulators underlying the accelerated proliferation of astrocyte precursor cells (APCs) in DS remain elusive. Here, we established a human isogenic cell line panel based on DS-specific induced pluripotent stem cells, the XIST-mediated transcriptional silencing system in trisomic chromosome 21, and genome/chromosome-editing technologies to eliminate phenotypic fluctuations caused by genetic variation. The transcriptional responses of genes observed upon XIST induction and/or downregulation are not uniform, and only a small subset of genes show a characteristic expression pattern, which is consistent with the proliferative phenotypes of DS APCs. Comparative analysis and experimental verification using gene modification reveal dose-dependent proliferation-promoting activity of DYRK1A and PIGP on DS APCs. Our collection of human isogenic cell lines provides a comprehensive set of cellular models for further DS investigations.

Neurology - Neurología

TÍTULO / TITLE:   - Moyamoya Disease and Syndrome: A National Inpatient Study of Ischemic Stroke Predictors

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REVISTA / JOURNAL:    - J Stroke Cerebrovasc Dis.2021 Sep;30(9):105965. doi: 10.1016/j.jstrokecerebrovasdis.2021.105965.E

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AUTORES / AUTHORS: - Santiago R Unda et al

INSTITUCIÓN / INSTITUTION: - Leo M. Davidoff Department of Neurosurgery, Montefiore Medical Center, Albert Einstein College of Medicine, 3316 Rochambeau Ave. Bronx, NY 10467 USA. 

RESUMEN / SUMMARY: - Erratum in Erratum to Moyamoya Disease and Syndrome: A National Inpatient Study of Ischemic Stroke Predictors [Journal of Stroke and Cerebrovascular Diseases, Vol. 30, No. 9 (September), 2021:105965]. Unda SR, Antoniazzi AM, Miller R, Klyde D, Javed K, Fluss R, Holland R, Ramos RG, Haranhalli N, Altschul DJ.J Stroke Cerebrovasc Dis. 2021 Oct 12:106150. doi: 10.1016/j.jstrokecerebrovasdis.2021.106150. Online ahead of print.PMID: 34654617 No abstract available. Objectives: Ischemic stroke and hemorrhagic stroke are the most common sequelae of the Moyamoya variants [Moyamoya disease (MMD) and syndrome (MMS)]. We sought to determine the rates of stroke subtypes and the predictive factors of arterial ischemic stroke (AIS) utilizing a large data sample of MMD and MMS patients in the US. Materials and methods: We queried the 2016 and 2017 National Inpatient Sample database for Moyamoya diagnosis plus any of the following associated conditions; sickle cell disease, neurofibromatosis type 1, cranial radiation therapy or Down Syndrome. Multivariate regression determined the risk factors for AIS onset in MMD and MMS. Results: 2323 patients with a diagnosis of Moyamoya were included; 668 (28.8%) patients were classified as MMS and 1655 (71.2%) as MMD. AIS was the most common presentation in both cohorts; however, MMD patients had higher rates of AIS (20.4 vs 6%, p < 0.001), hemorrhagic stroke (7.4vs 2.5%, p < 0.001), and TIA (3.3vs 0.9%, p = 0.001) compared to MMS patients. Multivariate analysis showed that increasing age [OR = 1.017 95%CI: 1.008-1.03, p < 0.001], lipidemia [OR = 1.32 95%CI: 1.02-1.74, p = 0.049], and current smoking status [OR = 1.43 95%CI: 1.04-1.97, p = 0.026] were independent risk factors for AIS in MMD patients, whereas hypertension [OR = 2.61 95%CI: 1.29-5.25, p = 0.007] and African-American race [OR = 0.274, 95%CI: .117-.64, p = 0.003] were independent predictors in the MMS cohort. Conclusion: AIS is the most common presentation in both, MMD an

TÍTULO / TITLE:   - Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures

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REVISTA / JOURNAL:    - J Child Neurol 2021 Oct;36(11):1027-1033. doi: 10.1177/08830738211026072.Epub 2021 Jul 27.

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AUTORES / AUTHORS: - Matthew Macdonald et al

INSTITUCIÓN / INSTITUTION: - Division of Neurology, Department of Pediatrics, BC Children s Hospital, Faculty of Medicine, University of British Columbia Vancouver, British Columbia, Canada. 

RESUMEN / SUMMARY: - Introduction: Lennox-Gastaut syndrome is a severe form of pediatric epilepsy that is classically defined by a triad of drug-resistant seizures, including atonic, tonic, and atypical absence seizures; slow spike-and-wave discharges and paroxysmal fast activity on electroencephalography (EEG); and cognitive and behavioral dysfunction. In the vast majority, Lennox-Gastaut syndrome develops in patients with an identified etiology, including genetic or structural brain abnormalities. Long-term prognosis is generally poor with progressive intellectual deterioration and persistent seizures. At present, there are few reported cases of Lennox-Gastaut syndrome and trisomy 21 in the literature. To further delineate the spectrum of epilepsy in trisomy 21, we reviewed children with trisomy 21 and Lennox-Gastaut syndrome at one center over 28 years. Methods: This is a retrospective case series. At our institution, all EEG results are entered into a database, which was queried for patients with trisomy 21 from 1992 to 2019. Pertinent electroclinical data was obtained from medical records. Results: Of 63 patients with trisomy 21 and epilepsy, 6 (10%) had Lennox-Gastaut syndrome and were included in the study. Four of the 6 patients were male and 5 of 6 had neuroimaging, which was normal. Follow-up ranged from 3 to 20 years. Notably, 5 of 6 had predominant myoclonic seizures throughout the course of their epilepsy, associated with generalized spike-wave discharges, <100 milliseconds. Conclusion: We observed myoclonic seizures to be a predominant seizure type in patients with trisomy 21, suggestive that trisomy 21 patients may have a unique pattern of Lennox-Gastaut syndrome.

TÍTULO / TITLE:   - Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome

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REVISTA / JOURNAL:    - Clin Neurophysiol. 2021 Aug;132(8):1802-1812. doi: 10.1016/j.clinph.2021.03.054.Epub 2021 May 13.

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AUTORES / AUTHORS: - Valrie Ct et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of Montreal, Montreal, Québec, Canada; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada. 

RESUMEN / SUMMARY: - Objective: Altered sensory processing is common in intellectual disability (ID). Here, we study electroencephalographic responses to auditory stimulation in human subjects presenting a rare condition (mutations in SYNGAP1) which causes ID, epilepsy and autism. Methods: Auditory evoked potentials, time-frequency and inter-trial coherence analyses were used to compare subjects with SYNGAP1 mutations with Down syndrome (DS) and neurotypical (NT) participants (N = 61 ranging from three to 19 years of age). Results: Altered synchronization in the brain responses to sound were found in both ID groups. The SYNGAP1 mutations group showed less phase-locking in early time windows and lower frequency bands compared to NT, and in later time windows compared to NT and DS. Time-frequency analysis showed more power in beta-gamma in the SYNGAP1 group compared to NT participants. Conclusions: This study indicated reduced synchronization as well as more high frequencies power in SYNGAP1 mutations, while maintained synchronization was found in the DS group. These results might reflect dysfunctional sensory information processing caused by excitation/inhibition imbalance, or an imperfect compensatory mechanism in SYNGAP1 mutations individuals. Significance: Our study is the first to reveal brain response abnormalities in auditory sensory processing in SYNGAP1 mutations individuals, that are distinct from DS, another ID condition.

TÍTULO / TITLE:   - High-resolution functional connectivity of the default mode network in young adults with Down syndrome

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REVISTA / JOURNAL:    - Brain Imaging Behav.2021 Aug;15(4):2051-2060. doi: 10.1007/s11682-020-00399-z.Epub 2020 Oct 18.

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AUTORES / AUTHORS: - Katherine A Koenig et al

INSTITUCIÓN / INSTITUTION: - Imaging Sciences, Imaging Institute, Cleveland Clinic, 9500 Euclid Ave / U15, Cleveland, OH, 44195, USA. 

RESUMEN / SUMMARY: - Studies of resting-state functional connectivity MRI in Alzheimer s disease suggest that disease stage plays a role in functional changes of the default mode network. Individuals with the genetic disorder Down syndrome show an increased incidence of early-onset Alzheimer s-type dementia, along with early and nearly universal neuropathologic changes of Alzheimer s disease. The present study examined high-resolution functional connectivity of the default mode network in 11 young adults with Down syndrome that showed no measurable symptoms of dementia and 11 age- and sex-matched neurotypical controls. We focused on within-network connectivity of the default mode network, measured from both anterior and posterior aspects of the cingulate cortex. Sixty-eight percent of connections to the posterior cingulate and 26% to the anterior cingulate showed reduced strength in the group with Down syndrome (p < 0.01). The Down syndrome group showed increased connectivity strength from the anterior cingulate to the bilateral inferior frontal gyri and right putamen (p < 0.005). In an exploratory analysis, connectivity in the group with Down syndrome showed regional relationships to plasma measures of inflammatory markers and t-tau. In non-demented adults with Down syndrome, functional connectivity within the default mode network may be analogous to changes reported in preclinical Alzheimer s disease, and warrants further investigation as a measure of dementia risk.

TÍTULO / TITLE:   - Cognition in Down s Syndrome: Development across the Life Span and Neuropsychological Assessment in Adults] [Article in German]

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REVISTA / JOURNAL:    - Fortschr Neurol Psychiatr.2021 Sep;89(9):433-444. doi: 10.1055/a-1362-9868.Epub 2021 Mar 1.

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AUTORES / AUTHORS: - Sandra V Loosli et al

INSTITUCIÓN / INSTITUTION: - Neurologische Klinik und Poliklinik, Klinikum der Universität München, Ludwig-Maximilians-Universität München. 

RESUMEN / SUMMARY: - in English, German Down s syndrome is the most frequent genetic cause of intellectual disability. As the risk for developing Alzheimer s disease is increased in Down s syndrome, comprehensive cognitive examination is essential, both in young adults (for baseline evaluation), as well as later for diagnosing dementia. So far, there are only a few recommendations for neuropsychological assessment in Down s syndrome. Here, we review (1) the development of cognition across the life span, (2) various causes of cognitive change in adults with Down s syndrome, and (3) procedures available for their evaluation. Furthermore, (4) we provide recommendations for the assessment and interpretation of diagnostic findings in adults with intellectual disabilities. We conclude with recommendations for cognitive assessment in intellectual disability in general.

TÍTULO / TITLE:   - Novel Vascular Anastomoses and Moyamoya Disease in a Woman with Down Syndrome

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REVISTA / JOURNAL:    - Can J Neurol Sci.2021 May;48(3):417-418. doi: 10.1017/cjn.2020.195.Epub 2020 Sep 7.

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AUTORES / AUTHORS: - Miles Timothy Byworth et al

INSTITUCIÓN / INSTITUTION: - McMaster University, Department of Neurology, Hamilton, ON, Canada 

RESUMEN / SUMMARY: - A 56-year-old woman with Down syndrome presented with right-sided weakness and dysarthria, and was found on CT/CTA to have a left middle cerebral artery infarct secondary to moyamoya disease. Her left posterior inferior cerebellar artery (PICA) was fed both by the left vertebral artery, and the left ascending pharyngeal artery (APA), with a variant origin from the internal carotid artery (ICA), then passing through the jugular foramen (Figure 1). Her right PICA originated exclusively from her right occipital artery, also via the jugular foramen (Figure 2). The left vertebral artery originated directly from the aortic arch, whereas the right vertebral artery originated from the brachiocephalic trunk. In addition, she had a trifurcated anterior cerebral artery (ACA), and just prior to this trifurcation, her left ACA was partially supplied by the left ICA, via a superior hypophyseal artery. This case is noteworthy for several reasons. First, though it is exceedingly rare to have the PICA supplied by the jugular branch of the APA, this is the first reported case with an ICA origin of that APA.1,2 The fact that both PICAs in this patient originate from the anterior circulation should remind clinicians that in unexplained posterior circulation infarctions, vascular anatomy should be explored, as carotid-vertebrobasilar anastomoses such as these are rare, but possible. Lastly, the conjunction of moyamoya disease and anomalies of the vertebrobasilar system in a patient with Down syndrome raises interesting questions about the influence of trisomy 21 on the developing vasculature. Connections from the APA to the vertebrobasilar system are hypothesized to result from a lack of regression of an embryological anastomosis, in line with the more common persistent trigeminal and persistent hypoglossal arteries.1 Patients with moyamoya disease have a significantly higher rate of persistent carotid-vertebrobasilar anastomoses than the general population,3 and are also 26 times more

TÍTULO / TITLE:   - White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study

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REVISTA / JOURNAL:    - J Neurodev Disord.2021 Apr 20;13(1):17. doi: 10.1186/s11689-021-09366-1. Free PMC article

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AUTORES / AUTHORS: - Austin Bazydlo et al.

INSTITUCIÓN / INSTITUTION: - School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA. 

RESUMEN / SUMMARY: - Background: Nearly all persons with Down syndrome will show pathology of Alzheimer s disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheimer s disease in the Down syndrome population and understand the relationship of these biomarkers to cognitive symptoms in order to inform clinical trials. Although Alzheimer s disease is often considered a disease of gray matter, white matter degeneration has been documented during the preclinical stage of Alzheimer s disease. The current study examined the association between diffusion tensor imaging (DTI) measures of white matter microstructure and episodic memory performance in 52 adults with Down syndrome. Methods: Seventy (N = 70) participants (M = 40.13, SD = 7.77 years) received baseline scans as part of the Neurodegeneration in Aging Down Syndrome (NiAD) study at two imaging facilities (36 at the University of Wisconsin-Madison [UW-Madison] and 34 at the University of Pittsburgh Medical Center [UPMC]). All participants had genetically confirmed trisomy 21. Fifty-two (N = 52) participants remained after QC. The DTI measures, fractional anisotropy (FA) and mean diffusivity (MD), were calculated for each participant. A combined measure of episodic memory was generated by summing the z-scores of (1) Free and Cued Recall test and (2) Rivermead Behavioural Memory Test for Children Picture Recognition. The DTI data were projected onto a population-derived FA skeleton and tract-based spatial statistics analysis was conducted using the FSL tool PALM to calculate Pearson s r values between FA and MD with episodic memory. Results: A positive correlation of episodic memory with FA and a negative correlation of episodic memory and MD in the major association white matter tracts were observed. Results were significant (p < 0.05) after correction for chronological age, imaging site, and premorbid cognitive ability. Conclusion: These findings suggest that w

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Collagen Cross Linking For Keratoconus

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REVISTA / JOURNAL:    - In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan. 2021 Sep 28. Free

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AUTORES / AUTHORS: - Vishal Vohra et al

INSTITUCIÓN / INSTITUTION: - Newcastle Upon Tyne NHS Foundation Trust 

RESUMEN / SUMMARY: - Excerpt: Keratoconus (KC) is one of the most prevalent corneal ectatic disorders characterized by progressive, non-inflammatory changes in stromal collagen structure and usually results in protrusion and alteration of the central and paracentral cornea. The etiology of this condition remains unknown; however, several ocular and systemic associations exist like Leber’s congenital amaurosis, atopy, Down syndrome, and the connective tissue disorders of Ehlers-Danlos and Marfan syndromes. Presentation is typically in the second or third decade of life with features of progressive myopia and astigmatism. The initial presentation is unilateral; however, both eyes eventually become involved. On examination, several eponymous clinical signs may present that increase the suspicion for KC. Munson’s sign is a V shape bulging of the lower eyelid on downgaze. Slit-lamp examination may reveal Vogt striae: fine, vertical, stromal stress lines, and a Fleischer ring: a ring-like configuration of epithelial iron deposits. Distant direct ophthalmoscopy reveals a characteristic “oil-droplet” reflex, and retinoscopy can demonstrate a characteristic scissoring reflex. Placido-disc topography, Scheimpflug imaging, and Optical Coherence Tomography allow for the detection of subtle changes in corneal topography, tomography, and epithelium changes associated with KC. A well-known classification system is the Amsler-Krumeich system that uses the patient’s refractive error, central keratometry readings, central corneal thickness and, the presence or absence of scarring. Notably, the Amsler-Krumeich system does not utilize corneal topographic values. Various topographic indices have been proposed for the diagnosis of preclinical KC (forme fruste keratoconus), and clinical KC. Rabinowitz suggests the following topographical characteristics of KC: increased areas of keratometric readings surrounded by areas of reduced corneal power, inferior-superior symmetry, and skewed radial axes. The newer

TÍTULO / TITLE:   - Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives

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REVISTA / JOURNAL:    - Eye Brain.2021 Jul 21;13:193-203. doi: 10.2147/EB.S319817.eCollection 2021. Free PMC article

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AUTORES / AUTHORS: - Lavinia Postolache et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Ophthalmology, Queen Fabiola University Children s Hospital, Université Libre de Bruxelles, Brussels, Belgium. 

RESUMEN / SUMMARY: - Down syndrome, caused by an extra copy of all or part of chromosome 21, is the most prevalent intellectual disability of genetic origin. Among numerous comorbidities which are part of the phenotype of individuals with Down syndrome, ocular problems appear to be highly prevalent. Neuro-ophthalmological manifestations, such as ocular alignment and motility disturbances, amblyopia, hypoaccommodation or optic nerve abnormalities, and other organic ocular anomalies frequently reported in Down syndrome, may lead to an overall decrease in visual acuity. Although numerous studies have reported ocular anomalies related to Down syndrome, it remains challenging to determine the impact of each anomaly upon the decreased visual acuity, as most such individuals have more than one ocular problem. Even in children with Down syndrome and no apparent ocular defect, visual acuity has been found to be reduced compared with typically developing children. Pediatric ophthalmological examination is a critical component of a multidisciplinary approach to prevent and treat ocular complications and improve the visual outcome in children with Down syndrome. This narrative review aims to provide a better understanding of the neuro-ophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.

TÍTULO / TITLE:   - Aqueous Misdirection After Trabeculectomy in a Down Syndrome Patient With Angle-closure Glaucoma

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REVISTA / JOURNAL:    - J Glaucoma.2021 May 1;30(5):e269-e270. doi: 10.1097/IJG.0000000000001831.

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AUTORES / AUTHORS: - Austin R Fox et al

INSTITUCIÓN / INSTITUTION: - Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa. 

RESUMEN / SUMMARY: - Down syndrome is a genetic disease caused by trisomy of chromosome 21 that is characterized by numerous systemic abnormalities including intellectual disability, stereotypical facies, and congenital heart malformations. Ocular abnormalities are commonly seen with Down syndrome including corneal disease (keratoconus), refractive error, and atypical irides (Brushfield spots). We report the first case of aqueous misdirection in a patient with Down syndrome after trabeculectomy. Patients with Down syndrome often have small, hyperopic eyes with narrow iridocorneal angles and may be at increased risk for aqueous misdirection associated with surgical procedures. Awareness of this risk may aid surgical planning and postoperative management.

TÍTULO / TITLE:   - Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations

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REVISTA / JOURNAL:    - J Ophthalmol.2021 May 26;2021:8870680. doi: 10.1155/2021/8870680.eCollection 2021. Free PMC articl

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AUTORES / AUTHORS: - Jennifer Robinson et al.

INSTITUCIÓN / INSTITUTION: - Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland. 

RESUMEN / SUMMARY: - To summarize and review the common ophthalmic anomalies in children with trisomy 21 (Down syndrome) in order to propose an update to current clinical recommendations. Methods: A retrospective chart review, systemic literature review, and international survey of the frequency of ocular abnormalities, screening schedules, and challenging aspects examining children with trisomy 21. The chart review included patients treated at the Department of Ophthalmology at the University Hospital of Zurich over a two-year period. The international survey was submitted to the members of the Swiss Society of Ophthalmology, Slovenian Ophthalmological Society, and European Pediatric Ophthalmology Society. Results: Analysis of 52 patient records during the study period revealed refractive errors (astigmatism: 54% of patients, hyperopia: 26%, and myopia: 15%) as the most common diagnosis, whereas childhood cataract was reported in 5%. This is in concordance with the extended literature review of 249 publications, although congenital cataracts were reported to be higher than at our institution. The survey participants reported great challenges in taking care of these patients, despite their long professional experience (73% with over 10 years of experience). Conclusion: Care and treatment of children with trisomy 21 continues to be demanding for paediatric ophthalmologists. We recommend the following examination schedule for these patients: first, ophthalmological examination at 6-12 months of age, then once in 3-6 months for children under 2 years of age, once in 6 months for children 2-5 years of age, annually for children 5-10 years of age, and thereafter, to be decided on an individual basis depending on the presenting ocular abnormalities of the patient.

TÍTULO / TITLE:   - Organoids for the Study of Retinal Development and Developmental Abnormalities

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REVISTA / JOURNAL:    - Front Cell Neurosci.2021 May 5;15:667880. doi: 10.3389/fncel.2021.667880.eCollection 2021. Free P

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AUTORES / AUTHORS: - Anne Vielle et al

INSTITUCIÓN / INSTITUTION: - CellSight Ocular Stem Cell and Regeneration Program, Sue Anschutz-Rodgers Eye Center, University of Colorado School of Medicine, Aurora, CO, United States 

RESUMEN / SUMMARY: - The cumulative knowledge of retina development has been instrumental in the generation of retinal organoid systems from pluripotent stem cells; and these three-dimensional organoid models, in turn, have provided unprecedented opportunities for retinal research and translational applications, including the ability to model disease in a human setting and to apply these models to the development and validation of therapeutic drugs. In this review article, we examine how retinal organoids can also contribute to our understanding of retinal developmental mechanisms, how this knowledge can be applied to modeling developmental abnormalities, and highlight some of the avenues that remain to be explored.

TÍTULO / TITLE:   - Down syndrome with bilateral posterior lenticonus

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REVISTA / JOURNAL:    - BMJ Case Rep.2021 Sep 6;14(9):e244343. doi: 10.1136/bcr-2021-244343.

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AUTORES / AUTHORS: - Mayank Jain et al

INSTITUCIÓN / INSTITUTION: - Paediatric Ophthalmology, Aravind Eye Hospital, Madurai, Tamil Nadu, India 

RESUMEN / SUMMARY: - We present a case of bilateral posterior lenticonus in a young boy with Down syndrome. Association of posterior lenticonus in Down syndrome is rarely reported in the literature. We have discussed the clinical features and management of this patient at our hospital.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Spinal Deformities in the Adolescent Athlete

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REVISTA / JOURNAL:    - Clin Sports Med.2021 Jul;40(3):541-554. doi: 10.1016/j.csm.2021.03.007.

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AUTORES / AUTHORS: - Keith R Bachmann

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedic Surgery, University of Virginia, PO Box 800159, Charlottesville, VA 22908, USA. Electronic  

RESUMEN / SUMMARY: - Idiopathic scoliosis will be noted in 2% to 3% of typically developing athletes. Sports physicals are an opportunity to screen for spinal deformity and to promote healthy involvement in activities. Bracing is effective at limiting further progression if a curve progresses beyond 20°. If spinal fusion is performed, most surgeons allow return to noncontact and contact sports by 6 to 12 months. There are many other conditions associated with scoliosis that require a more nuanced approach and assessment of the entire patient. Patients with Down syndrome should be examined for myelopathy before participation and a lateral radiograph obtained if concerned for instability.

TÍTULO / TITLE:   - Comparison of the degree of pes planovalgus and muscle mass of the ankle joint and foot muscles between children with Down syndrome and children with typical development

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REVISTA / JOURNAL:    - J Biomech.2021 Jun 9;122:110482. doi: 10.1016/j.jbiomech.2021.110482.Epub 2021 Apr 25.

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AUTORES / AUTHORS: - Mitsuhiro Masaki et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Takasaki University of Health and Welfare, 501 Nakaorui-machi, Takasaki 370-0033, Gunma, Japan. 

RESUMEN / SUMMARY: - We aimed to compare the degree of pes planovalgus and muscle mass of the ankle joint and foot muscles between children with Down syndrome (DS) and children with typical development (TD). We also examined the association of the degree of pes planovalgus with muscle mass of the ankle joint and foot muscles in children with DS and children with TD. The subjects were 24 children with TD (control [CTR] group) and 23 children with DS (DS group). To assess pes planovalgus, the Arch Height Index (AHI) in the standing position was measured. Muscle thickness of the ankle joint and foot muscles was measured using an ultrasound imaging device. The AHI and thickness of the soleus and tibialis posterior muscles were significantly lower in the DS group than those in the CTR group. The thickness of the flexor digitorum longus muscle was significantly greater in the DS group than that in the CTR group. Stepwise regression analysis revealed that the thickness of the flexor digitorum longus muscle was a significant and independent factor of the AHI in children comprising the CTR and DS groups. The thickness of the flexor digitorum longus muscle increased with decreasing AHI. The results of this study suggest that the AHI and muscle mass of the soleus and tibialis posterior muscles decrease, while muscle mass of the flexor digitorum longus muscle increases in children with DS. The results also indicate that decreased AHI is associated with increased muscle mass of the flexor digitorum longus muscle in children.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Cardiorespiratory Coordination During Exercise in Adults With Down Syndrome

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REVISTA / JOURNAL:    - Front Physiol.2021 Sep 8;12:704062. doi: 10.3389/fphys.2021.704062.eCollection 2021. Free PMC art

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AUTORES / AUTHORS: - Guillermo R Oviedo et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Psychology, Education and Sport Science Blanquerna, University Ramon Llull, Barcelona, Spain 

RESUMEN / SUMMARY: - Introduction: Down syndrome (DS) is a chromosomal disorder affecting simultaneously cardiovascular and respiratory systems. There is no research studying the coupling between these systems during cardiorespiratory exercise testing in a population with DS. Cardiorespiratory coordination (CRC), evaluated through principal component analysis (PCA), measures the covariation of cardiorespiratory variables during exercise. Objective: To investigate and compare CRC in adults with and without DS during maximal cardiorespiratory exercise testing. Methods: Fifteen adults with DS and 15 adults without disabilities performed a maximal cardiorespiratory exercise test on a treadmill. First, the slope, and afterward the velocity was increased regularly until participants reached exhaustion. The time series of six selected cardiorespiratory variables [ventilation per minute, an expired fraction of O2, the expired fraction of CO2, heart rate, systolic blood pressure (SBP), and diastolic blood pressure (DBP)] were extracted for the analysis. The number of principal components (PCs), the first PC eigenvalues (PC1), and the information entropy were computed for each group (non-DS and DS) and compared using a t-test or a Mann-Whitney U test. Results: Two PCs in the non-DS group and three PCs in the DS group captured the variance of the studied cardiorespiratory variables. The formation of an additional PC in the DS group was the result of the shift of SBP and DBP from the PC1 cluster of variables. Eigenvalues of PC1 were higher in the non-DS (U = 30; p = 0.02; d = 1.47) than in the DS group, and the entropy measure was higher in the DS compared with the non-DS group (U = 37.5; p = 0.008; d = 0.70). Conclusion: Adults with Down syndrome showed higher CRC dimensionality and a higher entropy measure than participants without disabilities. Both findings point toward a lower efficiency of the cardiorespiratory function during exercise in participants with DS. CRC appears as an alternative me

TÍTULO / TITLE:   - The Effects of 20 Weeks of Side-Alternating Vibration Therapy on Physical Function, Bone and Muscle Health in Adolescents with Down Syndrome

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REVISTA / JOURNAL:    - Phys Occup Ther Pediatr.2021;41(1):44-55. doi: 10.1080/01942638.2020.1758983.Epub 2020 Apr 28.

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AUTORES / AUTHORS: - Silmara Gusso et al

INSTITUCIÓN / INSTITUTION: - Liggins Institute, University of Auckland, Auckland, New Zealand. 

RESUMEN / SUMMARY: - Aims: To evaluate the effects of side-alternating vibration therapy on physical function and body composition in adolescents with Down syndrome. Methods: Fourteen adolescents (8 males) with Down syndrome (mean ± SD age: 15.5 ± 2.3 years) performed vibration treatment nine minutes daily, four times per week, for 20 weeks on a Galileo vibration platform. Data were collected at baseline and after 20 weeks of intervention. Assessments included six-minute walk test, muscle function (force plate), whole-body dual-energy X-ray absorptiometry and peripheral quantitative computed tomography of the non-dominant tibia. Results: After 20 weeks, participants increased their distance walked in the six-minute walk test (p = 0.009), 2-leg single jump efficiency (p = 0.024) and jump velocity (p = 0.046). Participants also increased their power (p = 0.034) and reduced the time taken during the chair rise test (p < 0.001). At the total body level, increases were seen in bone mineral density (p = 0.004), bone mineral content (p = 0.043), fat free mass (p = 0.013) and lean mass (p = 0.021). Conclusion: Side-alternating vibration therapy was associated with increases in physical function and muscle mass with no effects on bone health in adolescents with Down syndrome.

TÍTULO / TITLE:   - Effectiveness of Swimming Program in Adolescents with Down Syndrome

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REVISTA / JOURNAL:    - Int J Environ Res Public Health.2021 Jul 12;18(14):7441. doi: 10.3390/ijerph18147441. Free PMC art

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AUTORES / AUTHORS: - Alicja Naczk et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Education and Sport, Faculty of Physical Culture in Gorzow Wielkopolski, University School of Physical Education in Poznan, 66-400 Gorzow Wielkopolski, Poland. 

RESUMEN / SUMMARY: - The aim of this study was to estimate the influence of a 33-week swimming program on aerobic capacity, muscle strength, balance, flexibility, and body composition of adolescents with Down syndrome (DS). Twenty-two adolescents diagnosed with DS were randomly allocated into the training group (T) and the control group (C). The T group participated in 33 weeks of water-based exercise and a swimming program while the control group maintained their normal daily activity. Following thirty-three weeks of swimming program, body mass, body fat, and BMI of the T group decreased significantly (from 56.8 ± 7.97 kg to 55.0 ± 7.11 kg, from 15.1 ± 4.47 kg to 13.2 ± 3.92 kg, and from 25.1 ± 2.37 to 24.0 ± 2.05, respectively) while a significant increase was recorded in C (from 57.3 ± 8.43 kg to 59.7 ± 8.29 kg, from 14.5 ± 2.76 kg to 16.0 ± 3.11 kg, and from 25.4 ± 2.46 to 26.0 ± 2.72, respectively). Moreover, significant improvement in aerobic capacity in the T group was noted; VO2max (mL/kg/min) increased by 16.3% in T and decreased by 4.8% in C. Improvement in static arm strength, trunk strength and endurance/functional strength were noted in T, while the parameters did not change in C. The speed of arm movement, balance and flexibility did not change following the intervention. Also, the aquatic skills improved significantly in the training group. Changes in C were not significant. The results of our study indicate that 33-week swimming program significantly improved health status and swimming skills in adolescents with DS.

TÍTULO / TITLE:   - Impact of two different pulmonary rehabilitation methods in children with Down syndrome

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REVISTA / JOURNAL:    - J Bodyw Mov Ther.2021 Jul;27:512-521. doi: 10.1016/j.jbmt.2021.04.009.Epub 2021 Apr 22.

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AUTORES / AUTHORS: - Rasha A Mohamed

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy for Growth and Developmental Disorders in Children and Its Surgery, Faculty of Physical Therapy, Cairo University, Egypt.  

RESUMEN / SUMMARY: - Purpose: To investigate and compare the effect of proprioceptive neuromuscular facilitation of respiratory muscles with that of inspiratory muscle training as a preventive measure on respiratory muscle strength, chest expansion, spirometry, and functional capacity in children with Down syndrome. Methods: Forty-five Down syndrome participants with an age ranged from 10 to 13 years were enrolled. There were distributed into three groups. The study group A (n = 15) underwent proprioceptive neuromuscular facilitation of respiratory muscles while study group B (n = 15) underwent inspiratory muscle training. Third group C (n = 15) was a control group. The three groups received aerobic exercises using the bicycle ergometer for 20 min, 5 times/week for 12 successive weeks. The treatment program for both study groups was conducted for 20-30 min, 5 times/week for 12 successive weeks. Measurements of respiratory muscle strength (MIP, MEP), chest expansion, spirometry test (VC, FEV1, PEFR, MVV) and 6 min walk test were measured pre and post treatment.Results: The post treatment mean values of all investigated variables were significantly increased in both study groups with higher effect to group underwent proprioceptive neuromuscular facilitation of respiratory muscles.Conclusion: Both proprioceptive neuromuscular facilitation of respiratory muscles and inspiratory muscle training are effective in children with Down syndrome on improving respiratory muscle strength, chest expansion, spirometry and functional capacity with superior effect of proprioceptive neuromuscular facilitation.

TÍTULO / TITLE:   - Hopping skill in individuals with Down syndrome: A qualitative and quantitative assessment

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REVISTA / JOURNAL:    - Hum Mov Sci.2021 Aug;78:102821. doi: 10.1016/j.humov.2021.102821.Epub 2021 May 19.

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AUTORES / AUTHORS: - Federico Quinzi et al.

INSTITUCIÓN / INSTITUTION: - University of Rome Foro Italico, Department of Human Movement and Health Science, Italy. 

RESUMEN / SUMMARY: - Introduction: Individuals with Down syndrome (DS) show a delayed acquisition of gross motor skills. Among gross motor skills, hopping is a particular form of jumping that can be performed using one leg. Despite its large use during play and physical activity, this skill in adults with DS has not received much attention so far. Here, we aim at investigating hopping skill in adults with DS both from a quantitative and qualitative point of view. Methods: Center of mass and dominant leg kinematics during hopping over distance were recorded from 24 adult individuals with DS and from 21 typically developed adults (TD) using two inertial measurement units positioned on the posterior aspect of the lower back and on the lateral malleolus of the hopping leg. From linear acceleration and angular velocity signals, hopping frequency (HF), cycle, stance and flight duration (CD, SD, FD), vertical stiffness (KV) and peak to peak linear acceleration and angular velocities about the cranio-caudal, antero-posterior and medio-lateral axes were extracted. A qualitative process assessment of the hopping skill was carried out using the performance criteria of the test for gross motor development (TGMD-3). The extracted parameters were submitted to analysis of covariance, with stature as a covariate to rule-out possible confounding effects. Results: The qualitative assessment highlighted a poorer hopping performance in the DS group compared to the TD group. DS participants showed higher HF and KV, shorter CD, SD, FD and lower angular velocity about the cranio-caudal axis compared to the TD group. Significant correlations between the temporal parameters of the quantitative assessment and the results of the qualitative assessment were observed. Discussion: The poorer motor competence in hopping in individuals with DS compared to TD peers may be related to the shorter flight time and higher vertical stiffness observed in TD peers. The adopted instrumental approach, overcoming the limitations

TÍTULO / TITLE:   - [Effectiveness of treadmill training on the motor development of children with cerebral palsy and Down syndrome]

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REVISTA / JOURNAL:    - Medicina (B Aires).2021;81(3):367-374. Free article

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AUTORES / AUTHORS: - Silvia Garcia-Del Pino-Ramos et al.

INSTITUCIÓN / INSTITUTION: - Departamento de Enfermería, Fisioterapia y Terapia Ocupacional, Facultad de Fisioterapia y Enfermería, Universidad de Castilla-La Mancha, España. 

RESUMEN / SUMMARY: - in English, Spanish Cerebral palsy and Down syndrome are two conditions that present with a deficit in motor development. Treadmill interventions were found to improve this delay in development. This work aimed to describe and analyze the methodological quality of studies that applied treadmill interventions alone or combined with other therapies to promote gait and balance in children under 12 years of age with cerebral palsy and Down syndrome. A systematic review was made in different databases: PubMed, PEDro, Cochrane and Science Direct. Only randomized clinical trials published to date were selected. The methodological quality of the identified studies was assessed using the PEDro scale. Of the 324 articles initially found, 10 were selected, which met the established inclusion criteria for qualitative analysis. The variables analyzed were gait and balance in both populations after the treadmill intervention, with and without suspension of body weight. The main conclusion was that the application of a treadmill alone is an effective intervention to promote the development of gait and balance in children under 12 years with cerebral palsy and Down syndrome.

TÍTULO / TITLE:   - The Test-Retest Reliability of the Bruininks-Oseretsky Test of Motor Proficiency-Short Form in Youth with Down Syndrome-A Pilot Study

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REVISTA / JOURNAL:    - Int J Environ Res Public Health.2021 May 18;18(10):5367. doi: 10.3390/ijerph18105367. Free PMC art

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AUTORES / AUTHORS: - Vincenzo G Nocera et al

INSTITUCIÓN / INSTITUTION: - Department Health and Human Performance, Plymouth State University, Plymouth, NH 03264, USA. 

RESUMEN / SUMMARY: - Background: It is unclear whether assessments of motor proficiency are reliable for individuals with Down syndrome. The purpose of the study was to evaluate the test-retest reliability of the Bruininks-Oseretsky Test of Motor Proficiency-Short Form (BOT-2 SF) in youth with Down syndrome. Methods: Ten youth (ages 13.1-20.7 years) with Down syndrome completed the BOT-2 SF (14 items) plus a standing long jump on two separate occasions. Intraclass correlation coefficients (ICC), 95% confidence intervals (CIs), and standard error of measurement (SEM) were calculated to determine the test-retest reliability of the BOT-2 SF and the standing long jump. Results: The test-retest reliability of the BOT-2 SF overall scores and percentile rankings were considered excellent. The test-retest reliability of each of the subtests varied with classifications of poor (n = 5), fair to good (n = 6), and excellent (n = 4). Conclusion: Current evidence suggests that children with Down syndrome have reduced motor skills. However, there appears to be a lack of assessment tools that reliably evaluate the motor skills of this population. The results from this investigation suggest that the BOT-2-SF provides "excellent reliability" (≥0.75) to assess the motor skills in youth with Down syndrome.

TÍTULO / TITLE:   - Promoting Participation in Physical Activity in Children and Adolescents With Down Syndrome

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REVISTA / JOURNAL:    - Phys Ther.2021 May 4;101(5):pzab032. doi: 10.1093/ptj/pzab032.

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AUTORES / AUTHORS: - Erin E Wentz et al

INSTITUCIÓN / INSTITUTION: - SUNY Upstate Medical University, Syracuse, New York, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) often have lower physical activity (PA) levels compared with their peers with typical development, and face challenges to being physically active such as medical comorbidities, access issues, and societal stigma. Physical therapists are experts in exercise prescription and PA and are thus uniquely qualified to successfully promote participation in children with DS, in spite of inherent challenges. Our perspective is that a shift in physical therapy service delivery is needed. We suggest that physical therapists change the focus of their interventions for children with DS from underlying impairments such as low tone or joint laxity or from developing motor skills in isolation and "correct" movement patterns. Instead, physical therapists should allow the PA preferences and the environmental contexts of the children and adolescents they are working with to direct the treatment plan. In this way, physical therapist intervention becomes more child centered by concentrating on developing the specific skills and strategies required for success in the child s preferred PA. In this article, we consider the role of pediatric physical therapists in the United States, as well as in low- and middle-income countries, in promoting and monitoring PA in children with DS from infancy through adolescence. Examples of physical therapist interventions such as tummy time, movement exploration, treadmill training, bicycle riding, and strength training are discussed, across infancy, childhood, and adolescence, with a focus on how to successfully promote lifelong participation in PA.

TÍTULO / TITLE:   - A Short-Term Resistance Training Circuit Improved Antioxidants in Sedentary Adults with Down Syndrome

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REVISTA / JOURNAL:    - Oxid Med Cell Longev.2021 Jan 19;2021:8811153. doi: 10.1155/2021/8811153.eCollection 2021. Free P

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AUTORES / AUTHORS: - M Rosety-Rodriguez et al

INSTITUCIÓN / INSTITUTION: - School of Medicine, University of Cadiz, Cadiz, Spain. 

RESUMEN / SUMMARY: - Previous studies have found aerobic training improved oxidative damage in people with Down syndrome (DS). However, there is a lack of information regarding the influence of resistance training on redox imbalance in this population. Accordingly, this study was conducted to determine the effect of resistance training (RT) on antioxidant defence system in sedentary adults with DS. Thirty-six male adults with DS were recruited through different community support groups. Eighteen were randomly assigned to perform a circuit RT program with 6 stations, 3 days/week for 12 weeks. Plasma total antioxidant status (TAS), reduced glutathione (GHS), ascorbate, serum α-tocopherol, and erythrocyte glutathione reductase activity were assessed. Plasma malondialdehyde (MDA) and carbonyl groups (CG) were assessed as markers of oxidative damage. Muscle strength was also measured. Dynamic torque of knee extensors and flexors as well as maximal handgrip strength was significantly improved after the completion of the training program. Plasma levels of TAS and erythrocyte glutathione reductase (GR) activity were significantly increased. Conversely, MDA and CG levels were significantly reduced. It was concluded RT improved antioxidant defence system and reduced oxidative damage in adults with DS. Further, long-term studies are required to determine whether the increased antioxidant system may improve clinical outcomes of adults with DS.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory

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REVISTA / JOURNAL:    - J Obstet Gynaecol Res 2021 Oct;47(10):3437-3446. doi: 10.1111/jog.14954.Epub 2021 Aug 5.

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AUTORES / AUTHORS: - Yuna Sasaki

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

RESUMEN / SUMMARY: - Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age-specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78-99.96), 99.12% (95% CI: 96.83-99.76), and 100% (95% CI: 88.30-100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age-specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high-risk pregnant women, and maternal age-specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan.

TÍTULO / TITLE:   - Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review

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REVISTA / JOURNAL:    - Genes (Basel).2021 Mar 29;12(4):501. doi: 10.3390/genes12040501. Free PMC article

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AUTORES / AUTHORS: - Ivonne Bedei et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has been applied since the 1960s by using maternal age as the risk parameter. Since then, several advances have been made. First trimester screening, combining maternal age, maternal serum parameters and ultrasound findings, emerged in the 1990s with a detection rate (DR) of around 90-95% and a false positive rate (FPR) of around 5%, also looking for trisomy 13 and 18. With the development of high-resolution ultrasound, around 50% of fetal anomalies are now detected in the first trimester. Non-invasive prenatal testing (NIPT) for trisomy 21, 13 and 18 is a highly efficient screening method and has been applied as a first-line or a contingent screening approach all over the world since 2012, in some countries without a systematic screening program. Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chromosome anomalies (SCAs), rare autosomal anomalies (RATs) and microdeletions and duplications, is offered by different providers to an often not preselected population of pregnant women. Most of the research in the field is done by commercial providers, and some of the tests are on the market without validated data on test performance. This raises difficulties in the counseling process and makes it nearly impossible to obtain informed consent. In parallel with the advent of new screening technologies, an expansion of diagnostic methods has begun to be applied after invasive procedures. The karyotype has been the gold standard for decades. Chromosomal microarrays (CMAs) able to detect deletions and duplications on a submicroscopic level have replaced the conventional karyotyping in many countries. Sequencing methods such as whole exome sequencing (WES) and whole genome sequencing (WGS) tremendously amplify the diagnostic yield in f

TÍTULO / TITLE:   - Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test

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REVISTA / JOURNAL:    - J Hum Genet.2021 Jun;66(6):579-584. doi: 10.1038/s10038-020-00879-6.Epub 2020 Dec 3. Free PMC art

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AUTORES / AUTHORS: - Tatsuko Hirose et al

INSTITUCIÓN / INSTITUTION: - Clinical Genetics Medical Center, Showa University Hospital, Tokyo, Japan. 

RESUMEN / SUMMARY: - Non-invasive prenatal testing (NIPT) is used worldwide to screen for fetal aneuploidy. Although previous studies on the psychosocial aspects of NIPT have focused on satisfaction regarding the test, we surveyed women who experienced negative emotions after receiving NIPT. From January 2018 to March 2019, we surveyed pregnant women whose NIPT results were negative, one year after the test. Of the 526 respondents, 35 (6.7%) regretted receiving NIPT and blamed themselves for taking it. We assigned this 6.7% of respondents to the negative emotion group. Although, 76.5% of the participants in the negative emotion group reported they would like to take NIPT for their next pregnancy, it was significantly lower as compared to the control group (92%). Furthermore, 31.9% of respondents in the control group reported that they would recommend similar tests to their relatives and friends. Conversely, in the negative emotion group, this proportion was lower at 17.1%. This suggests that guilt over testing may be meaningful. Thus, this study showed that some NIPT examinees regretted taking the test and blamed themselves. Respondents reported experiencing stress, anxiety, and depression even before NIPT affirming that it is important to address pregnant women s psychosocial status during pre-test genetic counseling.

TÍTULO / TITLE:   - Alterations of epigenetic landscape in Down syndrome carrying pregnancies: A systematic review of case-control studies

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REVISTA / JOURNAL:    - Eur J Obstet Gynecol Reprod Biol.2021 Sep;264:189-199. doi: 10.1016/j.ejogrb.2021.06.027.Epub 202

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AUTORES / AUTHORS: - Mohammad Reza Karimzadeh et al

INSTITUCIÓN / INSTITUTION: - Department of Medical Genetics, School of Medicine, Bam University of Medical Sciences, Bam, Iran. 

RESUMEN / SUMMARY: - Objective: Great attention is currently paid to both the pathogenetic mechanisms and non-invasive prenatal diagnosis (NIPD) of Down syndrome (DS). It has been posited that dysregulation of epigenetic signatures including DNA methylation and microRNAs (miRNAs) crucially contribute to the pathomechanism of DS. Therefore, we aimed to perform a systematic review of case-control publications that have examined the differences in epigenetic landscape between pregnancies bearing euploid fetuses and those affected with DS to provide a focused insight into the pathophysiology of DS and also novel biomarkers for NIPD of DS. Study design: Pertinent keywords were utilized to search into PubMed, Scopus, and Google Scholar. We enrolled studies that have compared the pattern of miRNAs expression profile or DNA methylation between pregnant women who carries DS fetuses and those with euploid fetuses. Results: An assessment of 599 articles resulted in, finally, 18 eligible studies (12 miRNAs and 6 DNA methylation). The most investigated miRNAs were those that are encoded by genes on chromosome 21 and more hypermethylation regions in DS fetuses than euploids with nearly evenly distribution on all chromosomes were found. Distinct mechanisms with potential therapeutic purposes have been put forward for the involvement of epigenetic perturbations in the etiopathogenesis of DS. Conclusion: There is a disagreement in the recruiting of epigenetic biomarkers for NIPD of DS. This heterogeneity in results of the qualified publications emanates from confounding factors such as differences in demographic data of participants, analytical platforms, and study design. Hence, before harnessing epigenetic signatures for NIPD of DS, more experiments are required.

TÍTULO / TITLE:   - Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period

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REVISTA / JOURNAL:    - Am J Med Genet A.2021 Jun;185(6):1732-1742.doi: 10.1002/ajmg.a.62162.Epub 2021 Mar 8.

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AUTORES / AUTHORS: - Zsolt Tidrenczel et al.

INSTITUCIÓN / INSTITUTION: - Genetic Center, Department of Obstetrics and Gynecology, Medical Centre Hungarian Defense Forces, Budapest, Hungary. 

RESUMEN / SUMMARY: - Prenatal testing has changed greatly over the past two decades, which may affect the diagnosis of congenital heart disease (CHD) in Down syndrome. The present study aimed to analyze changes in the prevalence and distribution of CHD diagnosed via ultrasonography and fetopathology in 462 fetuses with trisomy 21 between two consecutive 10-year periods (1999-2018), as well as the associations between CHDs, ultrasound markers, and extracardiac malformations. Overall, the frequency of cardiovascular malformations in trisomy 21 was 27.7 and 26.5%, and ultrasound identified 70 and 62% of CHDs during these periods. A profound increase in first-trimester ultrasound findings and associated anomalies with CHDs (ventricular septal defect, Tetralogy of Fallot) since 2009 were observed. Second-trimester nonstructural heart abnormalities were associated with ultrasound anomalies (74%) and major extracardiac malformations (42.9%). During both study periods, mothers carrying fetuses with CHD were significantly younger than those without CHD (p = 0.038, p = 0.009, respectively). Comparing the two 10-year periods, there were no changes in the prevalence and detection of CHDs. Trend analysis revealed that, although the frequency of CHD remained stable, the diagnostic spectrum had shifted between the study periods. Detection of nonstructural heart abnormalities necessitates detailed follow-up for cardiac/extracardiac malformations and chromosomal disorders.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Meta-analysis on inhibition from childhood to young adulthood in people with Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil.2021 Feb;109:103838. doi: 10.1016/j.ridd.2020.103838.Epub 2021 Jan 7.

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AUTORES / AUTHORS: - Martina Fontana et al

INSTITUCIÓN / INSTITUTION: - University of Trieste, Department of Life Sciences, Trieste, Italy. 

RESUMEN / SUMMARY: - Background: Few studies have investigated inhibition in people with Down syndrome (DS), indicating contradictory results. Aim: This meta-analysis investigated if people with DS show more severe difficulties on inhibition, compared to typically developing (TD) children matched on a measure of mental age (MA). Methods and procedures: Literature search included studies conducted before March 2019, combining the following keywords: "Down syndrome" with "Inhibition", "Interference control", "Effortful control", "Impulsivity", "Self-regulation", and "Executive functions". Descriptive information was coded, according to inclusions criteria. Meta-analysis of standardized differences between DS and TD groups means was performed. Relevant moderators were also considered. Outcomes and results: Eight studies were included in the meta-analysis, including 161 people with DS and 160 TD children. The results indicated that people with DS showed significantly lower inhibition abilities when they are matched on MA with TD children, instead no significant differences emerged when this matching was not provided. A high heterogeneity across studies was estimated. Conclusions and implications: This meta-analysis indicates that people with DS show, on average, an inhibition deficit compared to TD matched children, albeit not a severe one. These results suggest the importance of investigating in depth inhibition processes in people with DS from childhood to young adulthood.

TÍTULO / TITLE:   - Attachment representations among school-age children with intellectual disability

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REVISTA / JOURNAL:    - Res Dev Disabil.2021 Nov;118:104064. doi: 10.1016/j.ridd.2021.104064.Epub 2021 Aug 20.

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AUTORES / AUTHORS: - Stphanie Vanwalleghem,Raphale Miljkovitch,Annie Vinter

INSTITUCIÓN / INSTITUTION: - Unité de Recherche CLIPSYD, Université Paris Nanterre, 200 avenue de la Liberté, 92001, Nanterre, France.  

RESUMEN / SUMMARY: - Background: Research data documenting a high risk of insecure and disorganized attachment among children with intellectual disability (ID) in infancy and early childhood raises the question of mutual influences between ID and attachment in later childhood. Aims: The objectives of the present study were to examine attachment among school-age children with ID and whether attachment varies according to level of intellectual functioning, adaptative functioning, and presence of a genetic syndrome (i.e. Down syndrome). Methods: Attachment among 54 children with ID aged 8-12 years (30 with Down Syndrome, 24 with non-specific ID) was assessed using the Attachment Story Completion Task, and compared with that of 108 typically developing children, 54 of the same chronological age and 54 of the same mental age. Outcomes: Results show (1) less security among children with ID than among same-age controls (2) more disorganization among children with ID compared to the two control groups, (3) a link between attachment disorganization and level of adaptive functioning among children with ID and (4) no difference in attachment between children with DS and children with non-specific ID. Conclusions: Children with ID remain vulnerable to disorganization during late childhood. More research is needed to understand the factors underlying disorganized attachment representations.

TÍTULO / TITLE:   - Updated profiles of everyday executive function in youth with Down syndrome using the BRIEF-2

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REVISTA / JOURNAL:    - J Intellect Disabil Res.2021 Sep 22. doi: 10.1111/jir.12879.Online ahead of print.

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AUTORES / AUTHORS: - K D Csumitta,C M Stephan,R I LaQuaglia,E Miller,N R Lee

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Background:Executive function difficulties in youth with Down syndrome (DS) are well recognised using informant-report measures. However, the profile of relative challenges and strengths has not yet been evaluated using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), which includes a new internal factor structure. Method:Using the BRIEF-2, profiles of everyday parent-reported executive function (EF) were evaluated in youth with DS (n = 34) and compared with age-based and sex-based norms. EF profiles were also compared across raters (parent vs. teacher, n = 20) and relative to mental age-matched typically developing controls (ns = 19 in each group). Results:Although within-group differences were not revealed on indexes, significant differences were found among BRIEF-2 scales. Across raters, teachers reported significantly more difficulties than parents. Compared with mental age-matched typically developing controls, the DS group was rated more poorly on some but not all BRIEF-2 scales. Conclusions:At the scale, but not the index level, the BRIEF-2 identifies a variegated EF profile in children with DS. For several of the scales, significant differences were noted relative to both chronological age expectations (using norms) and mental-age expectations (using a developmentally matched comparison group). At the scale level, the BRIEF-2 continues to be a sensitive tool for identifying executive function difficulties as well as profiles of relative strengths and weaknesses in children with DS.

TÍTULO / TITLE:   - Mentally Fit: Negotiating the Boundaries of Cognitive Disability

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REVISTA / JOURNAL:    - Med Anthropol.Feb-Mar 2021;40(2):111-115. doi: 10.1080/01459740.2020.1858296.Epub 2021 Jan 15.

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AUTORES / AUTHORS: - Patrick McKearney, Anna Zogas

INSTITUCIÓN / INSTITUTION: - Department of Social Anthropology, University of Cambridge, Cambridge, UK. 

RESUMEN / SUMMARY: - Why do some people s minds seem conspicuous, disabled, and ill-fitting in some contexts and not others? This special issue presents articles about people in Jordan, Uganda, the United Kingdom and the United States who live with Down syndrome, autism, intellectual disabilities, cerebral palsy, or histories of brain injuries. We focus on the disjunctive encounters between these individuals minds and the varied relational processes in their surrounding social world in order to understand why different mental characteristics become points of concern and comparison at some points and not others - and thus to raise questions about how "fitting in" works altogether.

TÍTULO / TITLE:   - Theory of Mind in children and adolescents with Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil.2021 Jun;113:103945. doi: 10.1016/j.ridd.2021.103945.Epub 2021 Apr 14.

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AUTORES / AUTHORS: - Isabel Neitze,Martina Penke

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation and Special Education, University of Cologne, Herbert-Lewin-Str. 10, Köln, 50931, Germany. 

RESUMEN / SUMMARY: - Introduction: To date, the evidence regarding False Belief (FB) abilities in individuals with Down syndrome (DS) has been both sparse and contradictory. Our study is the first systematic investigation targeting the relation between FB, mental age (MA), syntactic abilities (SA) and verbal short-term memory (VSTM) in individuals with DS so far. Method: 27 German-speaking children/adolescents with DS (aged 10;0-20;1 years) completed a location-change FB-task and four standardized measures assessing nonverbal intelligence & MA, VSTM, receptive and productive SA. Results: 37.5 % (n = 9) of our participants passed the FB-task, whereas 62.5 % (n = 15) did not answer the target question correctly. While no significant differences emerged for MA and language abilities in individuals who passed and those who failed FB-testing, VSTM came out as a significantly associated factor for FB-performance in a median split analysis of raw-scores. Discussion: The results suggest that a substantial proportion of individuals with DS is impaired in FB-understanding. In contrast to previous findings on children with developmental disorders such as autism, developmental language deficit or hearing impairment, general and specific SA related to sentence complementation turned out to be of limited relevance for FB-understanding in individuals with DS.

TÍTULO / TITLE:   - Characterization of Sleep Disturbances in Children and Adolescents with Down Syndrome and Their Relation with Cognitive and Behavioral Features

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REVISTA / JOURNAL:    - Int J Environ Res Public Health.2021 May 9;18(9):5001. doi: 10.3390/ijerph18095001. Free PMC artic

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AUTORES / AUTHORS: - Elisa Fuc et al

INSTITUCIÓN / INSTITUTION: - Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children s Hospital, IRCCS, 00165 Rome, Italy. 

RESUMEN / SUMMARY: - Despite sleep disturbances are common among youths with Down syndrome (DS), the cognitive and behavioral features associated with sleep problems have not yet been studied extensively. The present study investigated the presence of sleep disturbances in a group of children and adolescents with DS and their cognitive and behavioral correlates. Seventy-one children and adolescents with DS underwent a neuropsychological evaluation, whereas parents completed questionnaires for the screening of the child s sleep, emotional and behavioral problems. We found no association between sleep disturbances and sex, nonverbal IQ, nor adaptive abilities. However, we found that age was positively associated with disorders in initiating and maintaining sleep (DIMS) and disorders of excessive somnolence (DOES), while body mass index was related with DOES. We also detected a relationship between visual-motor integrations and DIMS, as well as multiple associations between sleep disturbances and psychopathological and behavioral problems, mainly externalizing symptoms. The present study provided a detailed characterization of sleep problems in relation to several features of youths with DS. The proper identification of sleep disturbances profile in the DS population could support the process of clinical evaluation, in particular for psychopathological aspects.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - The effect of the adapted soccer programme on motor learning and psychosocial behaviour in adolescents with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res.2021 Sep 9. doi: 10.1111/jir.12881.Online ahead of print.

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AUTORES / AUTHORS: - D B Perić et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Sport and Tourism, Educons University, Novi Sad, Serbia. 

RESUMEN / SUMMARY: - Background: Numerous studies have proven the significant positive impact of the regular physical activity on general health conditions and quality of life of people with intellectual disability. In practice, various adapted sports activities are used. The current study deals with the effects of the soccer programme. Aim: The purpose of the study is to evaluate the effects of adapted soccer on the motor learning and some psychosocial characteristics in adolescents with Down syndrome. Methods: Twenty-five participants were recruited and randomised into two groups (exercise and control). Adolescents placed in the exercise group carried out a special soccer programme twice a week during 16 weeks, while adolescents placed in the control group continued with their usual daily regime. Specific motor coordination, level of aggression, attention disorders, level of anxiety and depression, and social problems were measured before and after the training period. Mixed ANOVA were used to evaluate the effects of the experimental treatment. Results: The exercise group had significant improvements (P < 0.05) in one of three motor variables (only in the easiest task) and in all psychosocial variables. There are no one significant change in the control group. The adapted soccer programme influenced more seriously on psychosocial characteristics than on motor learning of adolescent with DS. Conclusions: The results suggest that adapted soccer training can decrease aggression, anxiety and depression levels, and improve attention, social behaviour and simple motor skills in adolescents with Down syndrome.

TÍTULO / TITLE:   - Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic

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REVISTA / JOURNAL:    - Brain Sci.2021 Jul 30;11(8):1012. doi: 10.3390/brainsci11081012. Free PMC article

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AUTORES / AUTHORS: - Kavita Krell et al.

INSTITUCIÓN / INSTITUTION: - Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA. 

RESUMEN / SUMMARY: - Levels of independence vary in individuals with Down syndrome (DS). We began this study to describe the current life skills in our clinic population of children and adults with DS. We collected and reviewed demographics, living situation, and life skills from an electronic intake form used in clinic procedures. Descriptive statistics for this cohort study included mean, standard deviation, and frequencies. From 2014-2020, 350 pediatric and 196 adult patients (range 0-62 years) with a first visit to the Massachusetts General Hospital Down Syndrome Program are described. Pediatric patients were most often enrolled in school, and in an inclusion setting. Adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future. Most (87%) of adults with DS communicated verbally, though fewer could use written communication (17%). Life skills of greatest importance to adolescents and adults with DS included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%). Life skills for patients with DS are varied; those associated with a medical appointment, such as sharing symptoms with the doctor, could improve for greater independence.

TÍTULO / TITLE:   - Parental perspectives on research for Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil.2021 Sep 12. doi: 10.1111/jar.12937.Online ahead of print.

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AUTORES / AUTHORS: - Amanda Nicole White et al

INSTITUCIÓN / INSTITUTION: - Graduate School of Leadership and Change, Antioch University, Yellow Springs, Ohio, USA. 

RESUMEN / SUMMARY: - Background: Down syndrome is the most common genetic disorder associated with intellectual and developmental disabilities. Research to improve health care outcomes in Down syndrome lags significantly behind other disease categories. Among these reasons are funding, recruitment and availability of research studies being conducted. Methods: We surveyed 228 parents of individuals with Down syndrome to understand their perceptions of research, study design, how they seek out information and topics they would like to see researched. Results: Parents with children 18 years and younger responded to our survey. Parents indicated their willingness to participate in research (72%), yet few have (36%). Parents identified barriers to participation, research they feel would help their child, and interests in seeing new therapies and drug studies. Conclusion: These findings identify recommendations and insights from parents on future research agendas, studies and recruitment strategies that may help researchers improve outcomes for individuals with Down syndrome.

TÍTULO / TITLE:   - Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome

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REVISTA / JOURNAL:    - Am J Prev Med.2021 Jan;60(1):1-12. doi: 10.1016/j.amepre.2020.06.009.Epub 2020 Nov 12.

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AUTORES / AUTHORS: - Kristin M Jensen et al.

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

RESUMEN / SUMMARY: - Introduction: People with Down syndrome have health risks that require specific lifelong preventive health care. With increasing life expectancy, people with Down syndrome also face health conditions typical of their unaffected peers and thus need coordinated health care. The purpose of this study is to describe rates of age/sex- and Down syndrome-specific preventive healthcare activities among adolescents and adults with Down syndrome. Methods: Using Medicaid claims (2006-2010) in California, Colorado, Michigan, and Pennsylvania, the cohort was defined as people with Down syndrome aged ≥12 years seen by primary care providers and enrolled in Medicaid for ≥45 of 60 months without dual Medicare enrollment (n=3,501). Age focus-consistent primary care providers were defined as having a focus concordant with a patient s age: 12-17 years, child or mixed-focus; ≥26 years, adult or mixed-focus; 18-25 years, any focus. Differences in healthcare activities were evaluated using Pearson s chi-square, Fisher s exact, and Kruskal-Wallis tests. Analyses were performed in 2015-2017. Results: Of the cohort, 79% had an age focus-consistent primary care provider. However, 40% of adults aged ≥26 years received care from a child-focused primary care provider. Only 43% with an age focus-consistent provider had ≥1 well examination (age focus-inconsistent primary care provider: 35%, p<0.001). Most preventive activities had poor rates (<50%) regardless of age focus consistency between provider and patient age or whether they were age/sex- or Down syndrome-specific (well examinations; vaccinations; sleep apnea; hearing; and breast, cervical, and colon cancer screenings). Lipids, vision, and thyroid screenings reached moderate levels (50% to <80%). Conclusions: Rates of age/sex- and Down syndrome-specific preventive recommendations were low among adolescents and adults with Down syndrome, regardless of the age focus consistency of their primary care provider. Th

TÍTULO / TITLE:   - Problem-solving and coping in family adaptation of children with Down Syndrome

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REVISTA / JOURNAL:    - Rev Esc Enferm USP.2021 May 19;55:e03708. doi: 10.1590/S1980-220X2020001803708.eCollection 2021.

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AUTORES / AUTHORS: - Patrcia Pinto Braga et al.

INSTITUCIÓN / INSTITUTION: - Universidade Federal de São João Del-Rei, Campus Centro-Oeste, Divinópolis, MG, Brazil. 

RESUMEN / SUMMARY: - Objective: To analyze problem-solving and coping strategies of parents of children with Down Syndrome in family adaptation. Method: This is a qualitative research that used the Resiliency Model of Family Stress, Adjustment, and Adaptation. Participants were mothers and/or fathers from 40 families of children aged 1 to 7 years diagnosed with DS. Directed content analysis was performed, supported by software and considering a code dictionary. Results: Problem-solving and coping proved to be a set of actions, behaviors, efforts, and communications that contributed to family adaptation and favored balance between the demands imposed by Down Syndrome and the acquisition of resources by the family. Conclusion: In the first moment, which corresponds to the time of news or diagnosis of the syndrome and the first days after birth, internal and external resources, which represent coping, are developed to accept and refocus ideas and feelings towards Down Syndrome. Over time these resources have an effect and cause changes in family functioning patterns and in the relationship of these families with the outside world, as they seek child development.

TÍTULO / TITLE:   - The Impact of Developmental Behavioral Pediatrics in a Population of Children with Down Syndrome

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REVISTA / JOURNAL:    - J Pediatr Nurs.Mar-Apr 2021;57:38-42. doi: 10.1016/j.pedn.2020.10.019.Epub 2020 Nov 16.

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AUTORES / AUTHORS: - Daphna Shaw et al.

INSTITUCIÓN / INSTITUTION: - Division of Developmental-Behavioral Pediatrics, Department of Pediatrics, University of Texas Southwestern Medical Center, TX, United States of America.  

RESUMEN / SUMMARY: - Purpose: Children with Down syndrome (DS) have a unique developmental profile with an increased risk for co-morbid neurodevelopmental diagnoses, including autism spectrum disorder (ASD), anxiety, and attention deficit/hyperactivity disorder (ADHD), among others. A delay in a diagnosis of these conditions can impact the health and psychosocial wellbeing of the child and family. The purpose of this study was to assess identification of secondary co-morbid neurodevelopmental diagnoses within an academic DS specialty Clinic. Design and methods: A retrospective chart review of secondary co-morbid neurodevelopmental diagnoses including children with DS ages 2 to 17 years old, with a visit encounter in a pediatric DS specialty clinic between January 2018 to August 2019 was conducted. Comparisons included diagnoses identified before (T1) and after (T2) inclusion of developmental behavioral specialists as pediatric DS providers. Two sample t-tests, Chi-square test and Fisher s exact t-test were utilized to compare categorical and non-categorical variables. Results: 145 children were identified in T1 of which 51.7% were male. 225 children were seen in T2, 56.0% were male. Increased detection of several co-morbid conditions occurred between T1 and T2 including language disorder (p < 0.0001), intellectual disability (p < 0.0001), and non-specific developmental/behavioral diagnoses (p < 0.0001). Conclusion: Developmental/behavioral assessment is integral for detection of co-morbid conditions among a pediatric DS population and prevention of diagnostic overshadowing. Practice implications: Interprofessional teams, including pediatric nurse practitioners, play a key role in providing health supervision and assessment for a pediatric DS population.

TÍTULO / TITLE:   - Prevalence of breastfeeding in children with congenital heart diseases and Down syndrome

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REVISTA / JOURNAL:    - Clin Nutr ESPEN.2021 Aug;44:458-462. doi: 10.1016/j.clnesp.2021.03.023.Epub 2021 Apr 15.

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AUTORES / AUTHORS: - Clarissa de Oliveira Agostini et al

INSTITUCIÓN / INSTITUTION: - Instituto de Cardiologia do Rio Grande do Sul/Fundação Universitária de Cardiologia (IC/FUC), Porto Alegre, Rio Grande do Sul, Brazil. 

RESUMEN / SUMMARY: - Background: According to the World Health Organization, the worldwide incidence of Down syndrome is one in a thousand live births a year. Of these, it is estimated that 20-60% have congenital heart disease, a factor that hinders breastfeeding. Considering the numerous benefits of breastfeeding, a study verifying this prevalence in children with Down syndrome and congenital heart disease is indispensable, and this is not yet evidenced in the literature. The aim of this study is to verify the prevalence of breastfeeding in children with Down syndrome and congenital heart disease admitted to a referral hospital in cardiology. Methods: Cross-sectional study with 62 patients, aged between 0 and 5 years. Anthropometric variables (weight, height) and data related to breastfeeding were collected. Statistical analysis was performed using the SPSS® version 26.0 statistical software. Results: The prevalence of breastfeeding was of 80.6%, but the median of exclusive breastfeeding was of only 3 days. Only 38.7% received breastfeeding for more than 6 months. The main reasons for interruption were difficulty in sucking and tiredness to breastfeed. Statistical significance was evidenced when comparing the time of exclusive breastfeeding and maintenance with the mother s education, with p = 0.006 and p = 0.041, respectively. No relationship was found between nutritional status and breastfeeding. Conclusions: Despite the high prevalence of breastfeeding, the maintenance time is well below the recommendations. Therefore, further monitoring and promotion of breastfeeding is necessary for this population, given the countless benefits of breast milk.

TÍTULO / TITLE:   - [The development of autonomy among adolescents with Down syndrome based on the pedagogy of Paulo Freire]

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REVISTA / JOURNAL:    - Cien Saude Colet.2021 Aug;26(8):3019-3030. doi: 10.1590/1413-81232021268.09322020.Epub 2020 Jun 9

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AUTORES / AUTHORS: - Mariana Munhoz Cerrn et al

INSTITUCIÓN / INSTITUTION: - Instituto de Medicina Física e Reabilitação, Hospital das Clínicas, Universidade de São Paulo. Av. Dr. Enéas Carvalho de Aguiar 255, Cerqueira César. 05403-000 São Paulo SP Brasil 

RESUMEN / SUMMARY: - in English, Portuguese Autonomy is a process that enables us to understand and act on the environment and on ourselves. During adolescence, transformations result in the development of autonomy. Adolescents with Down syndrome (ADS) have perceptual-cognitive limitations and few opportunities to acquire autonomy. The development of autonomy in an occupational therapy group, with dyads of ADS and their main caregivers was analyzed. The evaluation of the materials produced in the therapeutic process pointed to four categories of analysis: self-perception, perception of the other, shared experience and change of attitude. The results show symbiotic relationships between the dyad, which hamper the individuation process and limit the opportunities to carry out activities independently. The therapeutic process based on Paulo Freire s pedagogy raised the level from an ingenuous to a critical awareness, resulting in changes in the attitudes of caregivers in relation to the identification of potential and acceptance of their own limitations and the ADS under care. This symbiosis complicates the individuation process and the access to experiences necessary for the development of autonomy. The therapeutic process can modify the attitudes of caregivers and foster continuity in development and autonomy.

Respiratory - Respiratorio

TÍTULO / TITLE:   - The impact of obstructive sleep apnea on bronchiolitis severity in children with Down syndrome

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REVISTA / JOURNAL:    - Sleep Med.2021 Jul;83:188-195. doi: 10.1016/j.sleep.2021.04.004.Epub 2021 Apr 16.

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AUTORES / AUTHORS: - Po-Yang Tsou et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Driscoll Children s Hospital, Corpus Christi, TX, USA; Sleep Center, Children s Hospital of Philadelphia, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Objectives: Acute bronchiolitis commonly causes respiratory failure in children ≤2 years, and is particularly severe in those with Down syndrome (DS). Obstructive sleep apnea (OSA), common in DS, is also associated with respiratory complications. However, it is unknown whether OSA is associated with worse outcomes in children with and without DS, hospitalized with bronchiolitis. We hypothesized that in children with bronchiolitis, OSA is associated with worse outcomes in those with DS, independent of DS-related comorbidities. Methods: Hospital discharge records of children with bronchiolitis aged ≤2 years were obtained for 1997-2012 from the Kid s Inpatient Database. The primary outcome was invasive mechanical ventilation (IMV), and secondary outcomes were non-invasive mechanical ventilation (NIMV), length of hospital stay, and inflation-adjusted cost of hospitalization (IACH). Multivariable regression was conducted to ascertain the associations between OSA and primary and secondary outcomes accounting for DS-associated comorbidities. Results: There were 928,961 hospitalizations for bronchiolitis. The DS group with bronchiolitis (n = 8697) was more likely to have OSA [241 (2.77%) vs 1293 (0.14%), p < 0.001] compared to the non-DS group (n = 920,264). Multivariable logistic regression showed that OSA was associated with IMV (adjusted odds ratio [OR], 3.32 [95% CI 2.54-4.35], p < 0.0001) in all children with bronchiolitis; and in those with DS, it was associated with IMV (adjusted OR, 2.34 [95% CI 1.38-3.97], p = 0.002), NIMV (adjusted OR, 8.21 [95% CI 4.48-15.04], p < 0.0001) and IACH (adjusted β, 0.18 [95% CI 0.02-0.34], p = 0.031). Conclusions: OSA is independently associated with assisted ventilation in all children hospitalized with bronchiolitis, regardless of DS-associated comorbidities in those with DS. The severity of bronchiolitis in children with DS may be driven by the high prevalence of OSA.

TÍTULO / TITLE:   - Postoperative respiratory complications after adenotonsillectomy in children with obstructive sleep apnea

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol.2021 Sep;148:110835. doi: 10.1016/j.ijporl.2021.110835.Epub 2021 J

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AUTORES / AUTHORS: - Alfonso Caetta, et al.

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Otolaryngology, SUNY Downstate Medical Center, 450 Clarkson Avenue MSC 126, Brooklyn, NY, 11203, USA.  

RESUMEN / SUMMARY: - Objective: Children with obstructive sleep apnea are considered high risk for postoperative respiratory complications, but opinions differ regarding the polysomnography (PSG) criteria that suggest the need for postoperative admission. Our objective was to determine if otherwise healthy children age ≥3 years with an apnea-hypopnea index (AHI) < 24 on overnight PSG can be safely discharged on the same day of surgery. Methods: Case series with chart review of children age <18 years with positive PSG (AHI > 2) who underwent adenotonsillectomy (T&A) between January 2013 and August 2019. Data collected included patient demographics, medical history, comorbidities, PSG results, operative details, length of stay, intraoperative and postoperative respiratory complications and management. Potential predictors of respiratory complications were evaluated using chi-square/Fisher s exact test and 2-tailed unpaired t tests with the Bonferroni adjustment for multiple comparison artifact. The percentages of healthy children age ≥3 years who were discharged on the day of surgery at various PSG cutoffs were calculated. Results: Of the 560 children, mean (SD) age was 6.4 (3.7) years, 318 (56.8%) were male, 438 (78.2%) were African American, 243 (43.4%) were obese, 16 (2.9%) had Down Syndrome and 12 (2.1%) had sickle cell disease. Median (range) AHI was 12.3 (2-145). Fifteen children (2.7% [95% CI 1.3, 4.0]) had an intraoperative or postoperative respiratory complication. Minor complications including mild desaturation, stridor, croupy cough, and laryngospasm occurred in 9 patients and did not prolong the planned ambulatory or hospital stay. Of the 6 children with more severe complications including prolonged desaturation, tachypnea, atelectasis, intercostal retraction and obstructive apnea requiring continuous positive airway pressure, all were planned admissions based on age, severe sleep study indices (AHI ≥ 24 or oxygen saturation nadir < 80%) or underlying medical

TÍTULO / TITLE:   - Obstructive sleep apneas naturally occur in mice during REM sleep and are highly prevalent in a mouse model of Down syndrome

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REVISTA / JOURNAL:    - Neurobiol Dis.2021 Nov;159:105508. doi: 10.1016/j.nbd.2021.105508.Epub 2021 Sep 10. Free article

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AUTORES / AUTHORS: - Maria Lavinia Bartolucci et al

INSTITUCIÓN / INSTITUTION: - Section of Orthodontics, Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum - University of Bologna, Bologna, Italy; PRISM Lab, Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum - University of Bolog 

RESUMEN / SUMMARY: - Study objectives: The use of mouse models in sleep apnea study is limited by the belief that central (CSA) but not obstructive sleep apneas (OSA) occur in rodents. We aimed to develop a protocol to investigate the presence of OSAs in wild-type mice and, then, to apply it to a validated model of Down syndrome (Ts65Dn), a human pathology characterized by a high incidence of OSAs. Methods: In a pilot study, nine C57BL/6J wild-type mice were implanted with electrodes for electroencephalography (EEG), neck electromyography (nEMG), and diaphragmatic activity (DIA), and then placed in a whole-body-plethysmographic (WBP) chamber for 8 h during the rest (light) phase to simultaneously record sleep and breathing activity. CSA and OSA were discriminated on the basis of WBP and DIA signals recorded simultaneously. The same protocol was then applied to 12 Ts65Dn mice and 14 euploid controls. Results: OSAs represented about half of the apneic events recorded during rapid-eye-movement-sleep (REMS) in each experimental group, while the majority of CSAs were found during non-rapid eye movement sleep. Compared with euploid controls, Ts65Dn mice had a similar total occurrence rate of apneic events during sleep, but a significantly higher occurrence rate of OSAs during REMS, and a significantly lower occurrence rate of CSAs during NREMS. Conclusions: Mice physiologically exhibit both CSAs and OSAs. The latter appear almost exclusively during REMS, and are highly prevalent in Ts65Dn. Mice may, thus, represent a useful model to accelerate the understanding of the pathophysiology and genetics of sleep-disordered breathing and to help the development of new therapies.

TÍTULO / TITLE:   - Demographic and Clinical Characteristics Associated With Adherence to Guideline-Based Polysomnography in Children With Down Syndrome

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REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg.2021 Apr;164(4):877-883. doi: 10.1177/0194599820954837.Epub 2020 Sep 1

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AUTORES / AUTHORS: - Philip D Knollman et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA. 

RESUMEN / SUMMARY: - Objectives: To compare the demographic and clinical characteristics of children with Down syndrome who did and did not receive polysomnography to evaluate for obstructive sleep apnea after publication of the American Academy of Pediatrics guidelines recommending universal screening by age 4 years. Study design: Retrospective cohort study. Setting: Single tertiary pediatric hospital. Methods: Review was conducted of children with Down syndrome born between 2007 and 2012. Children who obtained polysomnography were compared with children who did not, regarding demographic data, socioeconomic status, and comorbidities. Results: We included 460 children with Down syndrome; 273 (59.3%) received at least 1 polysomnogram, with a median age of 3.6 years (range, 0.1-8.9 years). There was no difference in the distribution of sex, insurance status, or socioeconomic status between children who received polysomnography and those who did not. There was a significant difference in race distribution (P = .0004) and distance from home to the medical center (P < .0001) between groups. Among multiple medical comorbidities, only children with a history of hypothyroidism (P = .003) or pulmonary aspiration (P = .01) were significantly more likely to have obtained polysomnography. Conclusions: Overall, 60% of children with Down syndrome obtained a polysomnogram. There was no difference between groups by payer status or socioeconomic status. A significant difference in race distribution was noted. Proximity to the medical center and increased medical need appear to be associated with increased likelihood of obtaining a polysomnogram. This study illustrates the need for improvement initiatives to increase the proportion of patients receiving guideline-based screening.

TÍTULO / TITLE:   - Redefining Success by Focusing on Failures After Pediatric Hypoglossal Stimulation in Down Syndrome

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REVISTA / JOURNAL:    - Laryngoscope.2021 Jul;131(7):1663-1669. doi: 10.1002/lary.29290.Epub 2020 Dec 2.

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AUTORES / AUTHORS: - Phoebe K Yu et al

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A. 

RESUMEN / SUMMARY: - Objectives/hypothesis: Patients with Down syndrome have a high incidence of obstructive sleep apnea (OSA) and limited treatment options. Hypoglossal stimulation has shown efficacy but has not yet been approved for pediatric populations. Our objective is to characterize the therapy response of adolescent patients with down syndrome and severe OSA who underwent hypoglossal stimulation. Study design: Prospective longitudinal trial. Methods: We are conducting a multicenter single-arm trial of hypoglossal stimulation for adolescent patients with Down syndrome and severe OSA. Interim analysis was performed to compare objective sleep and quality of life outcomes at 12 months postoperatively for the first 20 patients. Results: The mean age was 15.5 and baseline AHI 24.2. Of the 20 patients, two patients (10.0%) had an AHI under 1.5 at 12 months; nine patients of 20 (45.0%) under five; and 15 patients of 20 (75.0%) under 10. The mean decrease in AHI was 15.1 (P < .001). Patients with postoperative AHI over five had an average baseline OSA-18 survey score of 3.5 with an average improvement of 1.7 (P = .002); in addition, six of these patients had a relative decrease of apneas compared to hypopneas and seven had an improvement in percentage of time with oxygen saturation below 90%. Conclusions: Patients with persistently elevated AHI 12 months after hypoglossal implantation experienced improvement in polysomnographic and quality of life outcomes. These results suggest the need for a closer look at physiologic markers for success beyond reporting AHI as the gold standard.

TÍTULO / TITLE:   - Perioperative respiratory adverse events in children with Trisomy 21: good news to look forward to

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REVISTA / JOURNAL:    - Paediatr Anaesth.2021 Apr;31(4):388-389. doi: 10.1111/pan.14139.

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AUTORES / AUTHORS: - Kacper Niburski et al

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, McGill University, Montreal, QC, Canada. 

RESUMEN / SUMMARY: - No abstract available Comment on An assessment of perioperative respiratory adverse events and difficult intubation in pediatric patients with Trisomy 21. Graber TJ, Baskin PL, Soria C, Greenberg M, Gabriel RA, Brzenski A. Paediatr Anaesth. 2021 Apr;31(4):410-418. doi: 10.1111/pan.14138. Epub 2021 Feb 24.PMID: 33484030

TÍTULO / TITLE:   - Sleep positions in children with Down syndrome and obstructive sleep apnea

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REVISTA / JOURNAL:    - Sleep Med.2021 May;81:463-465. doi: 10.1016/j.sleep.2021.03.018.Epub 2021 Mar 26.

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AUTORES / AUTHORS: - Jonathan D Santoro et al

INSTITUCIÓN / INSTITUTION: - Division of Neurology, Department of Pediatrics, Children s Hospital Los Angeles, Los Angeles, CA, USA; Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA 

RESUMEN / SUMMARY: - Objectives: To assess sleep positions in children with both Down syndrome (DS) and obstructive sleep apnea (OSA) and determine if there is a preferred sleep position by severity of apnea. Methods: A single-center retrospective review of patients with both DS and OSA was performed. Caregivers reported sleep position utilized greater than 50% of observed sleep time. Accuracy of this report was confirmed through review of hypnograms from polysomnography studies. Results: Eighty-two patients met inclusion criteria. Median body mass index (BMI) was 26.6 and 56% of patients had a prior tonsillectomy and/or adenoidectomy. The mean obstructive AHI (OAHI) was 25.33 with 90.4% having severe OSA, 9.6% having moderate OSA, and no patients having mild OSA. Reported sleep positions were skewed towards lateral/decubitus (82.9%) compared to prone (11.0%) and supine (6.1%). This was consistent with hypnogram data where 71% of total sleep time in lateral/decubitus positions compared to prone (13%) and supine (6%). The median changes in sleep position per patient was 5 (IQR: 3-6). Lower BMI (p < 0.001, 95% CI: 0.32-1.13) and tonsillectomy (p < 0.001, 95% CI: 7.7-18.19) were associated with lower OAHI. Sleep position was not associated with age (p = 0.19), sex (p = 0.66), race (p = 0.10), ethnicity (p = 0.68) nor history of tonsillectomy (p = 0.34). Preferred sleep position was not correlated with OAHI (p = 0.78, r = 0.03) or OSA severity (p = 0.72, r = 0.03). Conclusions: This study highlights the possibility that children with DS may have preferential sleep positions that cater to optimized airflow in the context of OSA although further prospective study is needed.

TÍTULO / TITLE:   - Characterization of Sleep Disturbances in Children and Adolescents with Down Syndrome and Their Relation with Cognitive and Behavioral Features

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REVISTA / JOURNAL:    - Int J Environ Res Public Health.2021 May 9;18(9):5001. doi: 10.3390/ijerph18095001. Free PMC artic

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AUTORES / AUTHORS: - Elisa Fuc et al

INSTITUCIÓN / INSTITUTION: - Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children s Hospital, IRCCS, 00165 Rome, Italy. 

RESUMEN / SUMMARY: - Despite sleep disturbances are common among youths with Down syndrome (DS), the cognitive and behavioral features associated with sleep problems have not yet been studied extensively. The present study investigated the presence of sleep disturbances in a group of children and adolescents with DS and their cognitive and behavioral correlates. Seventy-one children and adolescents with DS underwent a neuropsychological evaluation, whereas parents completed questionnaires for the screening of the child s sleep, emotional and behavioral problems. We found no association between sleep disturbances and sex, nonverbal IQ, nor adaptive abilities. However, we found that age was positively associated with disorders in initiating and maintaining sleep (DIMS) and disorders of excessive somnolence (DOES), while body mass index was related with DOES. We also detected a relationship between visual-motor integrations and DIMS, as well as multiple associations between sleep disturbances and psychopathological and behavioral problems, mainly externalizing symptoms. The present study provided a detailed characterization of sleep problems in relation to several features of youths with DS. The proper identification of sleep disturbances profile in the DS population could support the process of clinical evaluation, in particular for psychopathological aspects.

TÍTULO / TITLE:   - Successful upper airway stimulation therapy in an adult Down syndrome patient with severe obstructive sleep apnea

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REVISTA / JOURNAL:    - Sleep Breath.2019 Sep;23(3):879-883. doi: 10.1007/s11325-018-1752-1.Epub 2018 Nov 14.

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AUTORES / AUTHORS: - Eli Van de Perck et al

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Belgium 

RESUMEN / SUMMARY: - Purpose: The aim of this study was to report on the successful application of upper airway stimulation (UAS) therapy in an adult Down syndrome (DS) patient with severe obstructive sleep apnea (OSA) and continuous positive airway pressure (CPAP) intolerance.Methods: Baseline polysomnography (PSG) in a 23-year-old male OSA patient (body mass index (BMI) 24.4 kg/m2) revealed an apnea/hypopnea index (AHI) of 61.5 events/h and oxygen desaturation index (ODI) of 39.7 events/h. Based on the clinical examination, PSG and drug-induced sleep endoscopy, the patient fulfilled the formal inclusion criteria for UAS therapy: AHI between 15 and 65 events/h, BMI < 32 kg/m2, and no complete concentric collapse at the level of the velopharynx.Results: Implantation of the hypoglossal nerve stimulator in the adult patient with DS resulted in a substantial subjective as well as objective improvement of OSA (63 to 81% decrease in AHI and 77% decrease in ODI), translating into an overall satisfactory outcome.Conclusion: Research on the long-term effectiveness of UAS therapy in a larger group of patients with DS is needed. However, based on the available literature and our presented case, respiration-synchronized electrostimulation of the hypoglossal nerve using UAS therapy may have a potential value in well-selected OSA patients with DS who are non-compliant to CPAP therapy.

Surgery - Cirugía

TÍTULO / TITLE:   - Perioperative care of adults with Down syndrome: a narrative review

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REVISTA / JOURNAL:    - Can J Anaesth.2021 Oct;68(10):1549-1561. doi: 10.1007/s12630-021-02052-9.Epub 2021 Jun 24.

Enlace a la Editora de la Revista Elizabeth B Malinzak

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology, Duke University School of Medicine, DUMC 3094, Durham, NC, 27710, USA.  

RESUMEN / SUMMARY: - in English, French. Because of enhanced life expectancy due to medical and surgical therapeutic advances, it is estimated that there are more adults than children living with Down syndrome (DS), or trisomy 21, in the United States. Therefore, DS can no longer be considered a syndrome limited to the pediatric population. These patients are presenting for surgery and anesthesia in adult care settings, where anesthesiologists will encounter these patients more frequently. As these patients age, their commonly associated co-morbidities not only progress, but they also develop other cardiac, respiratory, gastrointestinal, and neurologic conditions. The manifestations and consequences of chronic disease can present new challenges for the anesthesiologist and require expertise and judgement to minimize patient risk. The purpose of this narrative review is to describe the common pediatric co-morbidities associated with DS and discuss the age-acquired manifestations. Additionally, considerations for anesthetic care of the adult with DS will be presented, including the preoperative assessment, intraoperative management, and postoperative care.

TÍTULO / TITLE:   - Perioperative respiratory adverse events in children with Trisomy 21: good news to look forward to

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REVISTA / JOURNAL:    - Paediatr Anaesth.2021 Apr;31(4):388-389. doi: 10.1111/pan.14139.

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AUTORES / AUTHORS: - Kacper Niburski et al

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, McGill University, Montreal, QC, Canada. 

RESUMEN / SUMMARY: - No abstract available Comment on An assessment of perioperative respiratory adverse events and difficult intubation in pediatric patients with Trisomy 21. Graber TJ, Baskin PL, Soria C, Greenberg M, Gabriel RA, Brzenski A. Paediatr Anaesth. 2021 Apr;31(4):410-418. doi: 10.1111/pan.14138. Epub 2021 Feb 24.PMID: 33484030

TÍTULO / TITLE:   - Hypoxemia in infants with trisomy 21 in the neonatal intensive care unit

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REVISTA / JOURNAL:    - J Perinatol.2021 Jun;41(6):1448-1453. doi: 10.1038/s41372-021-01105-7.Epub 2021 May 25.

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AUTORES / AUTHORS: - Katy N Krahn et al.

INSTITUCIÓN / INSTITUTION: - Department of Medicine, Division of Cardiology, University of Virginia, Charlottesville, VA, USA. 

RESUMEN / SUMMARY: - Objective: Newborns with trisomy 21 (T21) often require NICU hospitalization. Oxygen desaturations are frequently observed in these infants, even in the absence of congenital heart defects (CHD). We hypothesized that NICU patients with T21 have more hypoxemia than those without T21. Design: All infants with T21 without significant CHD discharged home from the NICU between 2009 and 2018 were included (n = 23). Controls were matched 20:1 for gestational age and length of stay. We compared daily severe hypoxemia events (SpO2 < 80% for ≥10 s) for the whole NICU stay and the pre-discharge week. Results: Infants with T21 showed significantly more daily hypoxemia events during their entire NICU stay (median 10 versus 7, p = 0.0064), and more so in their final week (13 versus 7, p = 0.0008). Conclusion: NICU patients with T21 without CHD experience more severe hypoxemia events than controls, particularly in the week before discharge. Whether this hypoxemia predicts or contributes to adverse outcomes is unknown.

TÍTULO / TITLE:   - Supraglottic foreign body in a woman with Down s syndrome and congenital heart disease: A case report

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REVISTA / JOURNAL:    - Medicine (Baltimore).2021 Apr 9;100(14):e25455. doi: 10.1097/MD.0000000000025455. Free PMC article

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AUTORES / AUTHORS: - Yuchao Liu et al

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology. 

RESUMEN / SUMMARY: - Rationale: An impacted foreign body (FB) in the larynx of an adult is a rare but potentially life-threatening occurrence. Patients with Down s syndrome (DS) are vulnerable to airway FB. However, the anesthesia for FB removal can be challenging. This report describes a case in which a FB was impacted between the vestibular folds in an adult with DS, congenital heart disease, and a difficult airway. Patient concerns: A 41-year-old woman swallowed a piece of sharp-tipped wooden skewer presented with a sudden onset of aphonia, dysphagia, and an acute sore throat without respiratory difficulty. The patient had DS, congenital heart disease, pulmonary arterial hypertension, and severe obstructive sleep apnea-hypopnea syndrome. The airway evaluation indicated that ventilation and intubation would be difficult due to retrognathia, macroglossia, adenotonsillar hypertrophy, and Mallampati s classification III. Diagnosis: The clinical symptoms and laboratory examination confirmed FB penetrated between the vestibular folds. Interventions: After careful multidisciplinary preoperative assessment and preparation, the FB was removed successfully by direct laryngoscopy under moderate sedation and spontaneous ventilation, with the application of 1% lidocaine as topical anesthesia. Outcomes: The laryngeal FB was removed successfully without any complications. And the patient was discharged home the next day. Lessons: This case report shows the importance of anesthetic depth for laryngeal FB removal. The use of moderate sedation (allowing spontaneous ventilation) and adequate analgesia combined with local anesthesia enabled the patient to withstand the stress of direct laryngoscopy. Appropriate assessment, careful preparation, and multidisciplinary collaboration yielded the smooth removal of a laryngeal FB in an adult with DS.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Hypoxemia in infants with trisomy 21 in the neonatal intensive care unit

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REVISTA / JOURNAL:    - J Perinatol.2021 Jun;41(6):1448-1453. doi: 10.1038/s41372-021-01105-7.Epub 2021 May 25.

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AUTORES / AUTHORS: - Katy N Krahn et al.

INSTITUCIÓN / INSTITUTION: - Department of Medicine, Division of Cardiology, University of Virginia, Charlottesville, VA, USA. 

RESUMEN / SUMMARY: - Objective: Newborns with trisomy 21 (T21) often require NICU hospitalization. Oxygen desaturations are frequently observed in these infants, even in the absence of congenital heart defects (CHD). We hypothesized that NICU patients with T21 have more hypoxemia than those without T21. Design: All infants with T21 without significant CHD discharged home from the NICU between 2009 and 2018 were included (n = 23). Controls were matched 20:1 for gestational age and length of stay. We compared daily severe hypoxemia events (SpO2 < 80% for ≥10 s) for the whole NICU stay and the pre-discharge week. Results: Infants with T21 showed significantly more daily hypoxemia events during their entire NICU stay (median 10 versus 7, p = 0.0064), and more so in their final week (13 versus 7, p = 0.0008). Conclusion: NICU patients with T21 without CHD experience more severe hypoxemia events than controls, particularly in the week before discharge. Whether this hypoxemia predicts or contributes to adverse outcomes is unknown.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE:   - Spontaneous bladder rupture secondary to posterior urethral valves in a boy with Down syndrome

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REVISTA / JOURNAL:    - BMJ Case Rep.2021 Sep 22;14(9):e240857. doi: 10.1136/bcr-2020-240857.

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AUTORES / AUTHORS: - Massimo Garriboli et al

INSTITUCIÓN / INSTITUTION: - Department of Nephro-Urology, Evelina London Children s Hospital, Guy s and St Thomas NHS Foundation Trust, London, UK  

RESUMEN / SUMMARY: - We describe a case of a 3-year-old boy with Down syndrome who developed a bladder rupture as a consequence of an undiagnosed posterior urethral valve (PUV). He had a history of urinary tract infections and constipation and was acutely admitted in poor condition and underwent laparotomy that revealed peritoneal sepsis secondary to bladder perforation. Bladder was drained using a suprapubic catheter and the condition of the boy gradually improved. Once stable, a cystourethroscopy confirmed the presence of PUV. Video-urodynamic studies performed at the check cystoscopy showed the bladder to be of reduced compliance (end fill pressure at 100 mL fill 30 cmH2O) with raised voiding pressures (76-100 cmH2O) and significant incomplete bladder emptying. Currently, the patient is doing very well, serum creatinine has normalised, he is infection-free and thriving; his bladder is managed with a vesicostomy.

Education - Educación

TÍTULO / TITLE:   - Meta-analysis on inhibition from childhood to young adulthood in people with Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil.2021 Feb;109:103838. doi: 10.1016/j.ridd.2020.103838.Epub 2021 Jan 7.

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AUTORES / AUTHORS: - Martina Fontana et al

INSTITUCIÓN / INSTITUTION: - University of Trieste, Department of Life Sciences, Trieste, Italy. 

RESUMEN / SUMMARY: - Background: Few studies have investigated inhibition in people with Down syndrome (DS), indicating contradictory results. Aim: This meta-analysis investigated if people with DS show more severe difficulties on inhibition, compared to typically developing (TD) children matched on a measure of mental age (MA). Methods and procedures: Literature search included studies conducted before March 2019, combining the following keywords: "Down syndrome" with "Inhibition", "Interference control", "Effortful control", "Impulsivity", "Self-regulation", and "Executive functions". Descriptive information was coded, according to inclusions criteria. Meta-analysis of standardized differences between DS and TD groups means was performed. Relevant moderators were also considered. Outcomes and results: Eight studies were included in the meta-analysis, including 161 people with DS and 160 TD children. The results indicated that people with DS showed significantly lower inhibition abilities when they are matched on MA with TD children, instead no significant differences emerged when this matching was not provided. A high heterogeneity across studies was estimated. Conclusions and implications: This meta-analysis indicates that people with DS show, on average, an inhibition deficit compared to TD matched children, albeit not a severe one. These results suggest the importance of investigating in depth inhibition processes in people with DS from childhood to young adulthood.

TÍTULO / TITLE:   - Updated profiles of everyday executive function in youth with Down syndrome using the BRIEF-2

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REVISTA / JOURNAL:    - J Intellect Disabil Res.2021 Sep 22. doi: 10.1111/jir.12879.Online ahead of print.

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AUTORES / AUTHORS: - K D Csumitta,C M Stephan,R I LaQuaglia,E Miller,N R Lee

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Background:Executive function difficulties in youth with Down syndrome (DS) are well recognised using informant-report measures. However, the profile of relative challenges and strengths has not yet been evaluated using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), which includes a new internal factor structure. Method:Using the BRIEF-2, profiles of everyday parent-reported executive function (EF) were evaluated in youth with DS (n = 34) and compared with age-based and sex-based norms. EF profiles were also compared across raters (parent vs. teacher, n = 20) and relative to mental age-matched typically developing controls (ns = 19 in each group). Results:Although within-group differences were not revealed on indexes, significant differences were found among BRIEF-2 scales. Across raters, teachers reported significantly more difficulties than parents. Compared with mental age-matched typically developing controls, the DS group was rated more poorly on some but not all BRIEF-2 scales. Conclusions:At the scale, but not the index level, the BRIEF-2 identifies a variegated EF profile in children with DS. For several of the scales, significant differences were noted relative to both chronological age expectations (using norms) and mental-age expectations (using a developmentally matched comparison group). At the scale level, the BRIEF-2 continues to be a sensitive tool for identifying executive function difficulties as well as profiles of relative strengths and weaknesses in children with DS.

TÍTULO / TITLE:   - The effect of the adapted soccer programme on motor learning and psychosocial behaviour in adolescents with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res.2021 Sep 9. doi: 10.1111/jir.12881.Online ahead of print.

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AUTORES / AUTHORS: - D B Perić et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Sport and Tourism, Educons University, Novi Sad, Serbia. 

RESUMEN / SUMMARY: - Background: Numerous studies have proven the significant positive impact of the regular physical activity on general health conditions and quality of life of people with intellectual disability. In practice, various adapted sports activities are used. The current study deals with the effects of the soccer programme. Aim: The purpose of the study is to evaluate the effects of adapted soccer on the motor learning and some psychosocial characteristics in adolescents with Down syndrome. Methods: Twenty-five participants were recruited and randomised into two groups (exercise and control). Adolescents placed in the exercise group carried out a special soccer programme twice a week during 16 weeks, while adolescents placed in the control group continued with their usual daily regime. Specific motor coordination, level of aggression, attention disorders, level of anxiety and depression, and social problems were measured before and after the training period. Mixed ANOVA were used to evaluate the effects of the experimental treatment. Results: The exercise group had significant improvements (P < 0.05) in one of three motor variables (only in the easiest task) and in all psychosocial variables. There are no one significant change in the control group. The adapted soccer programme influenced more seriously on psychosocial characteristics than on motor learning of adolescent with DS. Conclusions: The results suggest that adapted soccer training can decrease aggression, anxiety and depression levels, and improve attention, social behaviour and simple motor skills in adolescents with Down syndrome.

TÍTULO / TITLE:   - Parent Command Use and Child Compliance During Parent-Child Interactions Including Children With Down Syndrome

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REVISTA / JOURNAL:    - Am J Speech Lang Pathol.2021 May 18;30(3):1203-1209. doi: 10.1044/2021_AJSLP-20-00251.Epub 2021 Ma

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AUTORES / AUTHORS: - Emily K Lora,Audra Sterling

INSTITUCIÓN / INSTITUTION: - Department of Communication Sciences and Disorders, University of Wisconsin, Madison. 

RESUMEN / SUMMARY: - Purpose This study investigated maternal and paternal command use and child compliance in children with Down syndrome during mother-child and father-child free-play interactions. We also examined child compliance to direct versus indirect commands, and the relationships between maternal command use, paternal command use, child compliance, and child speech and language abilities. Method Fifteen families including a mother, father, and child with Down syndrome participated. Mother-child and father-child dyads participated in free-play interactions. We coded overall parent command use, command type (direct or indirect), and child compliance with the commands. Child language abilities were measured using a standardized assessment as well as during free-play. Results Mothers and fathers of children with Down syndrome used a similar number of commands, and children complied similarly across interactions. Children were more likely to comply with direct versus indirect commands. Parent command use was related to child language abilities in different ways for mothers and fathers. Child compliance was not related to receptive or expressive language abilities. Conclusions Mothers and fathers of children with Down syndrome use commands in similar ways but may base their command use on different child factors. Using direct commands with children with Down syndrome may be beneficial when increasing compliance during early interactions.

TÍTULO / TITLE:   - Implementation of an Intervention Plan for Emotional Development in People with Down Syndrome

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REVISTA / JOURNAL:    - Int J Environ Res Public Health.2021 Apr 29;18(9):4763. doi: 10.3390/ijerph18094763. Free PMC arti

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AUTORES / AUTHORS: - Macarena Castellary-Lpez et al

INSTITUCIÓN / INSTITUTION: - Departament of Education, Faculty of Education, University of Almeria, 04120 Almeria, Spain. 

RESUMEN / SUMMARY: - The importance of music, as well as the different and diverse possibilities that it offers, favors the emotional development of any person. This research is based on the development and application of a set of activities, whose transversal axis is the use of music, to favor and promote the emotional development of people with Down syndrome. This application of activities was developed with a group of eight participants, between the ages of twenty and forty-five years old. Additionally, under a total duration of eight working sessions. In these sessions, listening, vocal, instrumental, and movement activities were developed. For each of the emotions worked on; joy, fear, anger, sadness, calm, and love, a story and a song from the story were selected for each one of them. The methodology used was qualitative, using program evaluation. For this purpose, on the one hand, the data obtained during the different sessions were analyzed, and on the other hand, the data collected in the two discussion groups carried out were analyzed. Finally, the data obtained were organized into six categories: image recognition, observation of emotions, experience of emotions, identification of emotions, recognition of emotions, and finally, enjoyment of emotions. It could be seen that, after the sessions, there was a significant improvement in the different categories. However, in the categories of identification of emotions and recognition of emotions, the results were more favorable compared to the rest.

TÍTULO / TITLE:   - Promoting Participation in Physical Activity in Children and Adolescents With Down Syndrome

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REVISTA / JOURNAL:    - Phys Ther.2021 May 4;101(5):pzab032. doi: 10.1093/ptj/pzab032.

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AUTORES / AUTHORS: - Erin E Wentz et al

INSTITUCIÓN / INSTITUTION: - SUNY Upstate Medical University, Syracuse, New York, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) often have lower physical activity (PA) levels compared with their peers with typical development, and face challenges to being physically active such as medical comorbidities, access issues, and societal stigma. Physical therapists are experts in exercise prescription and PA and are thus uniquely qualified to successfully promote participation in children with DS, in spite of inherent challenges. Our perspective is that a shift in physical therapy service delivery is needed. We suggest that physical therapists change the focus of their interventions for children with DS from underlying impairments such as low tone or joint laxity or from developing motor skills in isolation and "correct" movement patterns. Instead, physical therapists should allow the PA preferences and the environmental contexts of the children and adolescents they are working with to direct the treatment plan. In this way, physical therapist intervention becomes more child centered by concentrating on developing the specific skills and strategies required for success in the child s preferred PA. In this article, we consider the role of pediatric physical therapists in the United States, as well as in low- and middle-income countries, in promoting and monitoring PA in children with DS from infancy through adolescence. Examples of physical therapist interventions such as tummy time, movement exploration, treadmill training, bicycle riding, and strength training are discussed, across infancy, childhood, and adolescence, with a focus on how to successfully promote lifelong participation in PA.

TÍTULO / TITLE:   - Auditory-Perceptual Features of Speech in Children and Adults With Down Syndrome: A Speech Profile Analysis

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REVISTA / JOURNAL:    - J Speech Lang Hear Res.2021 Apr 14;64(4):1157-1175. doi: 10.1044/2021_JSLHR-20-00617.Epub 2021 Ma

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AUTORES / AUTHORS: - Raymond D Kent et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Purpose The aim of this study was to determine how the speech disorder profiles in Down syndrome (DS) relate to reduced intelligibility, atypical overall quality, and impairments in the subsystems of speech production (phonation, articulation, resonance, and prosody). Method Auditory-perceptual ratings of intelligibility, overall quality, and features associated with the subsystems of speech production were obtained from recordings of 79 children and adults with DS. Ratings were made for sustained vowels (62 of 79 speakers) and short sentences (79 speakers). The data were analyzed to determine the severity of the affected features in each speaking task and to detect patterns in the group data by means of principal components analysis. Results Reduced intelligibility was noted in 90% of the speakers, and atypical overall speech quality was noted in 100%. Affected speech features were distributed across the speech production subsystems. Principal components analysis revealed four components each for the vowel and sentence tasks, showing that individuals with DS are not homogeneous in the features of their speech disorder. Discussion The speech disorder in DS is complex in its perceptual features and reflects impairments across the subsystems of speech production, but the pattern is not uniform across individuals, indicating that attention must be given to individual variation in designing treatments.

TÍTULO / TITLE:   - [The development of autonomy among adolescents with Down syndrome based on the pedagogy of Paulo Freire]

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REVISTA / JOURNAL:    - Cien Saude Colet.2021 Aug;26(8):3019-3030. doi: 10.1590/1413-81232021268.09322020.Epub 2020 Jun 9

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AUTORES / AUTHORS: - Mariana Munhoz Cerrn et al

INSTITUCIÓN / INSTITUTION: - Instituto de Medicina Física e Reabilitação, Hospital das Clínicas, Universidade de São Paulo. Av. Dr. Enéas Carvalho de Aguiar 255, Cerqueira César. 05403-000 São Paulo SP Brasil. 

RESUMEN / SUMMARY: - in English, Portuguese Autonomy is a process that enables us to understand and act on the environment and on ourselves. During adolescence, transformations result in the development of autonomy. Adolescents with Down syndrome (ADS) have perceptual-cognitive limitations and few opportunities to acquire autonomy. The development of autonomy in an occupational therapy group, with dyads of ADS and their main caregivers was analyzed. The evaluation of the materials produced in the therapeutic process pointed to four categories of analysis: self-perception, perception of the other, shared experience and change of attitude. The results show symbiotic relationships between the dyad, which hamper the individuation process and limit the opportunities to carry out activities independently. The therapeutic process based on Paulo Freire s pedagogy raised the level from an ingenuous to a critical awareness, resulting in changes in the attitudes of caregivers in relation to the identification of potential and acceptance of their own limitations and the ADS under care. This symbiosis complicates the individuation process and the access to experiences necessary for the development of autonomy. The therapeutic process can modify the attitudes of caregivers and foster continuity in development and autonomy.

TÍTULO / TITLE:   - Sexual behaviours and education in adolescents and young adults with Down syndrome: A grounded theory study of experiences and opinions of their mothers in Turkey

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REVISTA / JOURNAL:    - Res Dev Disabil.2021 May;112:103907. doi: 10.1016/j.ridd.2021.103907.Epub 2021 Feb 26.

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AUTORES / AUTHORS: - Cagla Gokgoz et al.

INSTITUCIÓN / INSTITUTION: - Akdeniz University, Women s Studies and Gender Research and Application Center, Antalya, Turkey. 

RESUMEN / SUMMARY: - This study aimed to gain a deeper understanding of the experiences and opinions of mothers about sexual behaviours and sexual education of their children with DS who are AYAs in Turkey. The study utilised a classic grounded theory approach. In-depth interviews were conducted with 12 mothers. Data were analyzed by the constant comparative method. Mothers expressed that they could not address the sexual needs of their child because they did not feel they could provide sufficient care to their child. Mothers used pressure and control tactics and neglect of the sexuality to cope with their children s sexuality. Mothers described their meaning of the sexuality, fear of stigmatization and gender issues as determinant factors on the dealing with the sexuality. They stated their knowledge about sexuality is not enough to provide sexual education. Many cultural issues such as gender, meaning of the sexuality and burden of care was described as determinant factors and difficulties to providing sexual education. Therefore, educational and supportive programmes for parents should be conducted. Comprehensive, valid and individualized sexual education program also should be provided AYAs with DS.

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