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Noviembre - Diciembre 2021
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Aging - Envejecimiento

TÍTULO / TITLE:   - Identifying dementia in Down syndrome with the Severe Impairment Battery, Brief Praxis Test and Dementia Scale for People with Learning Disabilities

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2021 Dec;65(12):1085-1096. doi: 10.1111/jir.12901. Epub 2021 Nov 16.

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AUTORES / AUTHORS: - E R Wallace et al. 

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of Kentucky, Lexington, KY, USA. 

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) are at high risk for dementia, specifically Alzheimer´s disease. However, many measures regularly used for the detection of dementia in the general population are not suitable for individuals with DS due in part to floor effects. Some measures, including the Severe Impairment Battery (SIB), Brief Praxis Test (BPT) and Dementia Scale for People with Learning Disabilities (DLD), have been used in clinical trials and other research with this population. Validity research is limited, particularly regarding the use of such tools for detection of prodromal dementia in the DS population. The current project presents baseline cross-sectional SIB, BPT and DLD performance in order to characterise their predictive utility in discriminating normal cognition, possible dementia and probable dementia in adult DS. Method: Baseline SIB, BPT and DLD performances from 100 individuals (no dementia = 68, possible dementia = 16 & probable dementia = 16) were examined from a longitudinal cohort of aging individuals with DS. Receiver operating characteristic curves investigated the accuracy of these measures in relation to consensus dementia diagnoses, diagnoses which demonstrated high percent agreement with the examining neurologist´s independent diagnostic impression. Results: The SIB and BPT exhibited fair discrimination ability for differentiating no/possible versus probable dementia [area under the curve (AUC) = 0.61 and 0.66, respectively]. The DLD exhibited good discrimination ability for differentiating no versus possible/probable dementia (AUC = 0.75) and further demonstrated better performance of the DLD Cognitive subscale compared with the DLD Social subscale (AUC = 0.77 and 0.67, respectively). Conclusions: Results suggest that the SIB, BPT and DLD are able to reasonably discriminate consensus dementia diagnoses in individuals with DS, supporting their continued use in the clinical assessment of dementia in DS. The genera

TÍTULO / TITLE:   - Proposed diagnostic criteria for mild cognitive impairment in Down syndrome population

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2021 Oct 25. doi: 10.1111/jar.12959. Online ahead of print.

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AUTORES / AUTHORS: - Susanna Esteba-Castillo et al

INSTITUCIÓN / INSTITUTION: - Specialized Service in Mental Health and Intellectual Disability, Institute of Health Assistance, Girona, Spain. 

RESUMEN / SUMMARY: - Background: Despite presenting higher risk of dementia, mild cognitive impairment (MCI) is not well defined in Down syndrome population. Objective: We aimed to describe cognitive and neuropsychological patterns associated with MCI in Down syndrome individuals. Method: Two groups of adults with Down syndrome (control and prodromal) were studied throughout 3 years. Two linear mixed models and a model including the variables that best predicted group membership were built. Results: Behavioural Regulation Index (BRI) (Behaviour Rating Inventory of Executive Function test) and the model composed of BRI, abstraction and delayed verbal memory were the variable and model best predicting group membership, respectively. Conclusion: Suggest a diagnosis of MCI when BRI is the earliest change perceived by caregivers and this is combined with low scores in abstract thinking, and when an amnesic pattern in delayed verbal memory is observed, but adaptive skills are preserved.

TÍTULO / TITLE:   - Hypersynchronized Magnetoencephalography Brain Networks in Patients with Mild Cognitive Impairment and Alzheimer´s Disease in Down Syndrome

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REVISTA / JOURNAL:    - Brain Connect. 2021 Nov;11(9):725-733. doi: 10.1089/brain.2020.0897. Epub 2021 Jun 1.

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AUTORES / AUTHORS: - Federico Ramírez-Toraño

INSTITUCIÓN / INSTITUTION: - Laboratory of Cognitive and Computational Neuroscience (UCM-UPM), Center for Biomedical Technology, Technical University of Madrid, Madrid, Spain. 

RESUMEN / SUMMARY: - Introduction: The majority of individuals with Down syndrome (DS) show signs of Alzheimer´s disease (AD) neuropathology in their fourth decade. However, there is a lack of specific markers for characterizing the disease stages while considering this population´s differential features. Methods: Forty-one DS individuals participated in the study, and were classified into three groups according to their clinical status: Alzheimer´s disease (AD-DS), mild cognitive impairment (MCI-DS), and controls (CN-DS). We performed an exhaustive neuropsychological evaluation and assessed brain functional connectivity (FC) from magnetoencephalographic recordings. Results: Compared with CN-DS, both MCI-DS and AD-DS showed a pattern of increased FC within the high alpha band. The neuropsychological assessment showed a generalized cognitive impairment, especially affecting mnestic functions, in MCI-DS and, more pronouncedly, in AD-DS. Discussion: These findings might help to characterize the AD-continuum in DS. In addition, they support the role of the excitatory/inhibitory imbalance as a key pathophysiological factor in AD. Impact statement The pattern of functional connectivity (FC) hypersynchronization found in this study resembles the largely reported Alzheimer´s disease (AD) FC evolution pattern in population with typical development. This study supports the hypothesis of the excitatory/inhibitory imbalance as a key pathophysiological factor in AD, and its conclusions could help in the characterization and prediction of Down syndrome individuals with a greater likelihood of converting to dementia.

TÍTULO / TITLE:   - Individual cognitive stimulation therapy (iCST) for people with intellectual disability and dementia: a feasibility randomised controlled trial

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REVISTA / JOURNAL:    - Aging Ment Health. 2021 Jan 4;1-11. doi: 10.1080/13607863.2020.1869180. Online ahead of print.

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AUTORES / AUTHORS: - Afia Ali et al

INSTITUCIÓN / INSTITUTION: - Division of Psychiatry, University College London, London, UK. 

RESUMEN / SUMMARY: - Objectives: To examine the feasibility, acceptability and fidelity of individual Cognitive Stimulation Therapy (iCST) in people with intellectual disability (ID) and dementia. Method: We aimed to recruit forty dyads (carer and individual with dementia and ID) who were randomised to iCST or a waiting list control group. Both groups received treatment as usual. Family and paid carers delivered the manualised intervention (40 sessions over 20 weeks). Recruitment and retention of participants, intervention adherence, fidelity and acceptability were assessed. Outcome measures of cognition, adaptive functioning, quality of life (QoL) and carer outcomes were collected at baseline, midpoint (11 weeks) and at 21 weeks. Qualitative interviews were conducted with six carers about their experience of iCST. Results: Forty dyads were recruited over 10 months from 12 National Health Service trusts. One dyad dropped out and 87.5% and 97.5% completed the midpoint and end-point assessments respectively. Assessment of fidelity indicated that the correct session structure was not followed; 70% completed at least 20 sessions and there was a high level of satisfaction with iCST. QoL was significantly higher in the iCST arm at 21 weeks (adjusted mean difference: 3.11; 95% CI: 0.64 to 5.58). There were no differences in the other outcome measures. Conclusion: The intervention was feasible and acceptable. A full-scale trial is warranted but some modifications are needed, including improved training and supervision for carers to improve fidelity.

TÍTULO / TITLE:   - Alzheimer´s disease associated with Down syndrome: a genetic form of dementia

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REVISTA / JOURNAL:    - Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3.

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AUTORES / AUTHORS: - Juan Fortea et al

INSTITUCIÓN / INSTITUTION: - Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu y Sant Pau, Barcelona, Spain 

RESUMEN / SUMMARY: - Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer´s disease and are at very high risk of developing early-onset dementia, which is now the leading cause of death in this population. Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and imaging biomarkers have shown good diagnostic performances and a strikingly similar temporality of changes with respect to sporadic and autosomal dominant Alzheimer´s disease. Most importantly, there are no treatments to prevent Alzheimer´s disease, even though adults with Down syndrome could be an optimal population in whom to conduct Alzheimer´s disease prevention trials. Unprecedented research activity in Down syndrome is rapidly changing this bleak scenario that will translate into disease-modifying therapies that could benefit other populations.

TÍTULO / TITLE:   - Physical activity and cognitive and imaging biomarkers of Alzheimer´s disease in Down syndrome

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REVISTA / JOURNAL:    - Neurobiol Aging. 2021 Nov;107:118-127. doi: 10.1016/j.neurobiolaging.2021.07.016. Epub 2021 Jul 29.

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AUTORES / AUTHORS: - Victoria Fleming et al.

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, Madison, WI, USA; School of Human Ecology, University of Wisconsin-Madison, Madison, WI, USA. 

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) are at risk for Alzheimer´s disease. Despite sharing trisomy 21, however, there is variability in the age of disease onset. This variability may mean that other factors, such as lifestyle, influence cognitive aging and disease timing. The present study assessed the association between everyday life physical activity using an actigraph accelerometer and cognitive functioning and early Alzheimer´s disease pathology via positron emission tomography amyloid-β and tau and diffusion tension imaging measures of white matter integrity in 61 non-demented adults with DS. Percent time in sedentary behavior and in moderate-to-vigorous activity were associated (negatively and positively, respectively) with cognitive functioning (r = -.472 to .572, p < 0.05). Neither sedentary behavior nor moderate-to-vigorous activity were associated with amyloid-β or tau, but both were associated with white matter integrity in the superior and inferior longitudinal fasciculus (Fractional Anisotropy: r = -.397 to -.419, p < 0.05; Mean Diffusivity: r = .400, p < 0.05). Longitudinal studies are needed to determine if physical activity promotes healthy aging in DS.

TÍTULO / TITLE:   - Sleep and White Matter in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2021 Oct 5;11(10):1322. doi: 10.3390/brainsci11101322. Free PMC article

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AUTORES / AUTHORS: - Victoria Fleming et al.

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

RESUMEN / SUMMARY: - Adults with Down syndrome are at a high risk for disordered sleep. These sleep problems could have marked effects on aging and Alzheimer´s disease, potentially altering white matter integrity. This study examined the associations between disordered sleep assessed via an actigraph accelerometer worn on 7 consecutive nights, presence of diagnosis of obstructive sleep apnea, and diffusion tensor imaging indices of white matter integrity in 29 non-demented adults with Down Syndrome (48% female, aged 33-54 years). Average total sleep time was associated with lower mean diffusivity in the left superior longitudinal fasciculus (r = -0.398, p = 0.040). Average sleep efficiency, length of awakenings, and movement index were related to fractional anisotropy in the right inferior longitudinal fasciculus (r = -0.614 to 0.387, p ≤ 0.050). Diagnosis of obstructive sleep apnea was associated with fractional anisotropy in the right inferior longitudinal fasciculus (r = -0.373, p = 0.050). Findings suggest that more disrupted sleep is associated with lower white matter integrity in the major association tracts in middle-aged adults with Down syndrome. Longitudinal work is needed to confirm the directionally of associations. Sleep interventions could be an important component for promoting optimal brain aging in the Down syndrome population.

TÍTULO / TITLE:   - Association between Hypothyroidism Onset and Alzheimer Disease Onset in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2021 Sep 16;11(9):1223. doi: 10.3390/brainsci11091223. Free PMC article

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AUTORES / AUTHORS: - Florence Lai et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. 

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age. Equally prevalent in DS is hypothyroidism. In this study, we sought to quantify the relationship between the two. A total of 232 adults with DS and AD were stratified into three AD onset age groups: early (<47 years), typical (48-59), and late (>59). Among patients with available data, differences in the distributions of demographics, hypothyroidism variables (presence, age of onset), thyroid function tests, thyroid autoantibodies, and APOE genotypes were assessed (e.g., chi-squared, Mann-Whitney tests). Spearman and partial Spearman correlations and ordinal logistic regression models were constructed to quantify the association between ages of AD and hypothyroidism onset with and without covariate adjustments. We observed a positive association between the ages of AD and hypothyroidism onset after accounting for APOE-Ɛ4 (correlation: 0.44, 0.24, 0.60; odds ratio: 1.09, 1.05-1.14). However, an early age of hypothyroidism onset and the presence of the APOE-Ɛ4 allele were independently associated with the early age of AD onset. Similar findings were observed when accounting for other factors. Our study provides evidence for the importance of hypothyroidism and associated pathological mechanisms for risk of AD in DS.

TÍTULO / TITLE:   - Selective Impairment of Long-Range Default Mode Network Functional Connectivity as a Biomarker for Preclinical Alzheimer´s Disease in People with Down Syndrome

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REVISTA / JOURNAL:    - J Alzheimer´s Dis. 2021 Nov 11. doi: 10.3233/JAD-210572. Online ahead of print.

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AUTORES / AUTHORS: - Natalie D DiProspero et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurobiology and Behavior, University of California, Irvine, CA, USA. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is associated with increased risk for Alzheimer´s disease (AD). In neurotypical individuals, clinical AD is preceded by reduced resting state functional connectivity in the default mode network (DMN), but it is unknown whether changes in DMN connectivity predict clinical onset of AD in DS. Objective: Does lower DMN functional connectivity predict clinical onset of AD and cognitive decline in people with DS? Methods: Resting state functional MRI (rsfMRI), longitudinal neuropsychological, and clinical assessment data were collected on 15 nondemented people with DS (mean age = 51.66 years, SD = 5.34 years, range = 42-59 years) over four years, during which 4 transitioned to dementia. Amyloid-β (Aβ) PET data were acquired on 13 of the 15 participants. Resting state fMRI, neuropsychological, and clinical assessment data were also acquired on an independent, slightly younger unimpaired sample of 14 nondemented people with DS (mean age = 44.63 years, SD = 7.99 years, range = 38-61 years). Results: Lower functional connectivity between long-range but not short-range DMN regions predicts AD diagnosis and cognitive decline in people with DS. Aβ accumulation in the inferior parietal cortex is associated with lower regional DMN functional connectivity. Conclusion: Reduction of long-range DMN connectivity is a potential biomarker for AD in people with DS that precedes and predicts clinical conversion.

TÍTULO / TITLE:   - Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model

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REVISTA / JOURNAL:    - Alzheimer´s Dement. 2021 Nov 10. doi: 10.1002/alz.12463. Online ahead of print.

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AUTORES / AUTHORS: - Mariko Sawa et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Introduction: People with Down syndrome (DS) are predisposed to Alzheimer´s disease (AD). The amyloid hypothesis informs studies of AD. In AD-DS, but not sporadic AD, increased APP copy number is necessary, defining the APP gene dose hypothesis. Which amyloid precursor protein (APP) products contribute needs to be determined. Methods: Brain levels of full-length protein (fl-hAPP), C-terminal fragments (hCTFs), and amyloid beta (Aβ) peptides were measured in DS, AD-DS, non-demented controls (ND), and sporadic AD cases. The APP gene-dose hypothesis was evaluated in the Dp16 model. Results: DS and AD-DS differed from ND and AD for all APP products. In AD-DS, Aβ42 and Aβ40 levels exceeded AD. APP products were increased in the Dp16 model; increased APP gene dose was necessary for loss of vulnerable neurons, tau pathology, and activation of astrocytes and microglia. Discussion: Increases in APP products other than Aβ distinguished AD-DS from AD. Deciphering AD-DS pathogenesis necessitates deciphering which APP products contribute and how.

TÍTULO / TITLE:   - Profiling Basal Forebrain Cholinergic Neurons Reveals a Molecular Basis for Vulnerability Within the Ts65Dn Model of Down Syndrome and Alzheimer´s Disease

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REVISTA / JOURNAL:    - Mol Neurobiol. 2021 Oct;58(10):5141-5162. doi: 10.1007/s12035-021-02453-3. Epub 2021 Jul 14.

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AUTORES / AUTHORS: - Melissa J Alldred et al.

INSTITUCIÓN / INSTITUTION: - Center for Dementia Research, Nathan Kline Institute, 140 Old Orangeburg Road, Orangeburg, NY, 10962, USA. 

RESUMEN / SUMMARY: - Basal forebrain cholinergic neuron (BFCN) degeneration is a hallmark of Down syndrome (DS) and Alzheimer´s disease (AD). Current therapeutics have been unsuccessful in slowing disease progression, likely due to complex pathological interactions and dysregulated pathways that are poorly understood. The Ts65Dn trisomic mouse model recapitulates both cognitive and morphological deficits of DS and AD, including BFCN degeneration. We utilized Ts65Dn mice to understand mechanisms underlying BFCN degeneration to identify novel targets for therapeutic intervention. We performed high-throughput, single population RNA sequencing (RNA-seq) to interrogate transcriptomic changes within medial septal nucleus (MSN) BFCNs, using laser capture microdissection to individually isolate ~500 choline acetyltransferase-immunopositive neurons in Ts65Dn and normal disomic (2N) mice at 6 months of age (MO). Ts65Dn mice had unique MSN BFCN transcriptomic profiles at ~6 MO clearly differentiating them from 2N mice. Leveraging Ingenuity Pathway Analysis and KEGG analysis, we linked differentially expressed gene (DEG) changes within MSN BFCNs to several canonical pathways and aberrant physiological functions. The dysregulated transcriptomic profile of trisomic BFCNs provides key information underscoring selective vulnerability within the septohippocampal circuit. We propose both expected and novel therapeutic targets for DS and AD, including specific DEGs within cholinergic, glutamatergic, GABAergic, and neurotrophin pathways, as well as select targets for repairing oxidative phosphorylation status in neurons. We demonstrate and validate this interrogative quantitative bioinformatic analysis of a key dysregulated neuronal population linking single population transcript changes to an established pathological hallmark associated with cognitive decline for therapeutic development in human DS and AD.

TÍTULO / TITLE:   - Cerebral Amyloid Angiopathy in a Mouse Model of Alzheimer´s Disease Associates with Upregulated Angiopoietin and Downregulated Hypoxia-Inducible Factor

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REVISTA / JOURNAL:    - J Alzheimer´s Dis. 2021;83(4):1651-1663. doi: 10.3233/JAD-210571.

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AUTORES / AUTHORS: - Gry H E Syverstad Skaaraas et al.

INSTITUCIÓN / INSTITUTION: - Department of Molecular Medicine, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. 

RESUMEN / SUMMARY: - Background: Vascular pathology is a common feature in patients with advanced Alzheimer´s disease, with cerebral amyloid angiopathy (CAA) and microvascular changes commonly observed at autopsies and in genetic mouse models. However, despite a plethora of studies addressing the possible impact of CAA on brain vasculature, results have remained contradictory, showing reduced, unchanged, or even increased capillary densities in human and rodent brains overexpressing amyloid-β in Alzheimer´s disease and Down´s syndrome. Objective: We asked if CAA is associated with changes in angiogenetic factors or receptors and if so, whether this would translate into morphological alterations in pericyte coverage and vessel density. Methods: We utilized the transgenic mice carrying the Arctic (E693G) and Swedish (KM670/6701NL) amyloid precursor protein which develop severe CAA in addition to parenchymal plaques. Results: The main finding of the present study was that CAA in Tg-ArcSwe mice is associated with upregulated angiopoietin and downregulated hypoxia-inducible factor. In the same mice, we combined immunohistochemistry and electron microscopy to quantify the extent of CAA and investigate to which degree vessels associated with amyloid plaques were pathologically affected. We found that despite a severe amount of CAA and alterations in several angiogenetic factors in Tg-ArcSwe mice, this was not translated into significant morphological alterations like changes in pericyte coverage or vessel density. Conclusion: Our data suggest that CAA does not impact vascular density but might affect capillary turnover by causing changes in the expression levels of angiogenetic factors.

TÍTULO / TITLE:   - Innate Immune System Activation and Neuroinflammation in Down Syndrome and Neurodegeneration: Therapeutic Targets or Partners?

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2021 Sep 16;13:718426. doi: 10.3389/fnagi.2021.718426. eCollection 2021. Free

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AUTORES / AUTHORS: - Md Mahiuddin Ahmed et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States. 

RESUMEN / SUMMARY: - Innate immune system activation and inflammation are associated with and may contribute to clinical outcomes in people with Down syndrome (DS), neurodegenerative diseases such as Alzheimer´s disease (AD), and normal aging. In addition to serving as potential diagnostic biomarkers, innate immune system activation and inflammation may play a contributing or causal role in these conditions, leading to the hypothesis that effective therapies should seek to dampen their effects. However, recent intervention studies with the innate immune system activator granulocyte-macrophage colony-stimulating factor (GM-CSF) in animal models of DS, AD, and normal aging, and in an AD clinical trial suggest that activating the innate immune system and inflammation may instead be therapeutic. We consider evidence that DS, AD, and normal aging are accompanied by innate immune system activation and inflammation and discuss whether and when during the disease process it may be therapeutically beneficial to suppress or promote such activation.

TÍTULO / TITLE:   - Altered cell and RNA isoform diversity in aging Down syndrome brains

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REVISTA / JOURNAL:    - Proc Natl Acad Sci U S A. 2021 Nov 23;118(47):e2114326118. doi: 10.1073/pnas.2114326118. Free articl

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AUTORES / AUTHORS: - Carter R Palmer et al.

INSTITUCIÓN / INSTITUTION: - Translational Neuroscience Initiative, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037. 

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by lifelong cognitive impairments and the development of the neuropathological hallmarks of Alzheimer´s disease (AD). The cellular and molecular modifications responsible for these effects are not understood. Here we performed single-nucleus RNA sequencing (snRNA-seq) employing both short- (Illumina) and long-read (Pacific Biosciences) sequencing technologies on a total of 29 DS and non-DS control prefrontal cortex samples. In DS, the ratio of inhibitory-to-excitatory neurons was significantly increased, which was not observed in previous reports examining sporadic AD. DS microglial transcriptomes displayed AD-related aging and activation signatures in advance of AD neuropathology, with increased microglial expression of C1q complement genes (associated with dendritic pruning) and the HSA21 transcription factor gene RUNX1 Long-read sequencing detected vast RNA isoform diversity within and among specific cell types, including numerous sequences that differed between DS and control brains. Notably, over 8,000 genes produced RNAs containing intra-exonic junctions, including amyloid precursor protein (APP) that had previously been associated with somatic gene recombination. These and related results illuminate large-scale cellular and transcriptomic alterations as features of the aging DS brain.

TÍTULO / TITLE:   - Aging with Down Syndrome-Where Are We Now and Where Are We Going?

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REVISTA / JOURNAL:    - J Clin Med. 2021 Oct 13;10(20):4687. doi: 10.3390/jcm10204687. Free PMC article

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AUTORES / AUTHORS: - Melissa J Alldred et al.

INSTITUCIÓN / INSTITUTION: - Nathan Kline Institute, NYU Grossman Medical School, 140 Old Orangeburg Rd, Orangeburg, NY 10962, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a form of accelerated aging, and people with DS are highly prone to aging-related conditions that include vascular and neurological disorders. Due to the overexpression of several genes on Chromosome 21, for example genes encoding amyloid precursor protein (APP), superoxide dismutase (SOD), and some of the interferon receptors, those with DS exhibit significant accumulation of amyloid, phospho-tau, oxidative stress, neuronal loss, and neuroinflammation in the brain as they age. In this review, we will summarize the major strides in this research field that have been made in the last few decades, as well as discuss where we are now, and which research areas are considered essential for the field in the future. We examine the scientific history of DS bridging these milestones in research to current efforts in the field. We extrapolate on comorbidities associated with this phenotype and highlight clinical networks in the USA and Europe pursuing clinical research, concluding with funding efforts and recent recommendations to the NIH regarding DS research.

Cardiology - Cardiología

TÍTULO / TITLE:   - Hemodynamic Characteristics After Fontan Procedure in Patients with Down´s Syndrome

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REVISTA / JOURNAL:    - Pediatr Cardiol. 2021 Sep 8. doi: 10.1007/s00246-021-02727-6. Online ahead of print.

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AUTORES / AUTHORS: - Masakazu Otsuka et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Cardiology, Fukuoka Children´s Hospital, 5-1-1 Kashiiteriha Higashi-ku, Fukuoka, 813-0017, Japan. 

RESUMEN / SUMMARY: - Patients with Down´s syndrome (DS) are generally regarded as not being good candidates for the Fontan procedure. However, detailed hemodynamic changes over time are not fully clarified. A retrospective chart review of all patients with DS who underwent the Fontan procedure and 5 times that number of Fontan patients without DS performed in Fukuoka Children´s Hospital and Kyushu University Hospital. Seven Fontan patients with DS were identified, and 35 Fontan patients without DS were recruited. During the mean observational periods of 14.7 years and 15.0 years (DS and non-DS, respectively) after the Fontan procedure, only one DS patient died. Central venous pressure (CVP) and transpulmonary pressure gradient significantly increased, and arterial oxygen saturation significantly decreased over time in DS patients after the Fontan procedure compared with those without DS. CVP in DS patients after the Fontan procedure increased over time compared with non-DS patients. Better management including the efficacy of Pulmonary arterial hypertension-specific therapy should be clarified in further studies.

TÍTULO / TITLE:   - Bone Marrow Ts65Dn Trisomy-Induced Changes in Platelet Functionality and Lymphocytopenia Do Not Impact Atherosclerosis Susceptibility in Mice

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REVISTA / JOURNAL:    - J Cardiovasc Dev Dis. 2021 Sep 13;8(9):110. doi: 10.3390/jcdd8090110. Free PMC article

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AUTORES / AUTHORS: - Suzanne J A Korporaal

INSTITUCIÓN / INSTITUTION: - Division of BioTherapeutics, Leiden Academic Centre for Drug Research, Leiden University, Gorlaeus Laboratories, Einsteinweg 55, 2333 CC Leiden, The Netherlands. 

RESUMEN / SUMMARY: - The genetic disorder Down syndrome is associated with a decreased susceptibility for atherosclerotic cardiovascular disease. Hematological and immune abnormalities occur frequently in Down syndrome patients. We evaluated, in a preclinical setting, the impact of a Down syndrome-like hematological/immune phenotype on atherosclerosis susceptibility. Hereto, hypercholesterolemic low-density lipoprotein receptor knockout mice were transplanted with bone marrow from either a trisomic Ts65Dn mouse or euploid wild-type control and subsequently fed a Western-type diet to induce the development of atherosclerotic lesions. T and B cell concentrations were markedly reduced in blood of Ts65Dn bone marrow recipients (p < 0.001). Expression levels of the pro-atherogenic scavenger receptor CD36 were respectively 37% and 59% lower (p < 0.001) in trisomic monocytes and macrophages. However, these combined effects did not translate into an altered atherosclerosis susceptibility. Notably, blood platelet numbers were elevated in Ts65Dn bone marrow recipients (+57%; p < 0.001), which was paralleled by higher platelet GPVI protein expression (+35%; p < 0.001) and an enhanced collagen-induced platelet activation (p < 0.001). In conclusion, we have shown that providing mice with a Down syndrome-like hematological profile does not change the susceptibility to atherosclerosis. Furthermore, our studies have uncovered a novel effect of the trisomy on platelet functionality that may be relevant in human clinical settings.

Dermatology - Dermatología

TÍTULO / TITLE:   - Occlusive treatment enhances efficacy of tacrolimus 0.1% in a pediatric patient with severe alopecia areata: Case report and literature review

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REVISTA / JOURNAL:    - Pediatr Dermatol. 2021 Jan;38(1):339-340. doi: 10.1111/pde.14474. Epub 2020 Nov 27.

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AUTORES / AUTHORS: - César Bimbi et al.

INSTITUCIÓN / INSTITUTION: - Dermatologia Medica & Laser Clinic, Porto Alegre, Brazil. 

RESUMEN / SUMMARY: - Tacrolimus is an immunomodulatory drug, available for topical and systemic treatment of several dermopathies that are characterized by immune dysregulation. In the case of alopecia areata, standard application has proven insufficient to yield satisfactory results. Herein, we present a 6-year-old patient with Down syndrome who was treated with topical tacrolimus 0.1% ointment under occlusion overnight with remarkable clinical improvement within 4 months.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Cervical Vestibular-Evoked Myogenic Potentials and Balance Testing in Children with Down Syndrome

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REVISTA / JOURNAL:    - Int Arch Otorhinolaryngol. 2021 Feb 19;25(4):e580-e584. doi: 10.1055/s-0040-1722174. eCollection 20

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AUTORES / AUTHORS: - Sule Kaya et al

INSTITUCIÓN / INSTITUTION: - Department of Audiology, Faculty of Health Sciences, Ankara Yildirim Beyazit University, Ankara, Turkey. 

RESUMEN / SUMMARY: - Introduction Vestibular otolith function plays a major role in balance control. Objective To investigate the saccular and balance functions of children with Down syndrome (DS). Methods In total, 15 children with DS aged between 9 and 11 years were included. An age- and gender-matched control group (CG) composed of 15 normal participants was also included. The subjects with DS had trisomy 21, without hearing or organic problems, and they had independence in stance. The saccular function among the children with DS and among the controls was tested using air-conduction cervical vestibular-evoked myogenic potentials (cVEMPs). In addition, the static and dynamic balance statuses were evaluated using the following assessments; the Pediatric Balance Scale (PBS), the modified Clinical Test of Sensory Interaction on Balance (mCTSIB), the Romberg test, and the Timed Up and Go (TUG) test. Results In the present study, the results of the saccular function test showed that there was a significant difference between children with and without DS ( p < 0.05). The DS subjects had significantly earlier N1 latancy and lower amplitude of the cVEMPs (< 70 μV) compared with the control subjects. The static-dynamic balance ability was statistically and significantly different in children with DS compared with the controls ( p < 0.05). Conclusion These results revealed that saccular function seems to be affected in DS subjects. The dysfunction in static and dynamic balance abilities of the children with DS may be attributed to vestibular dysfunction as well as low gross motor skills. This knowledge should be taken into account when assessing motor performance in those subjects. Additional larger studies testing other dimensions of the vestibular system in children with DS are needed.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Association between Hypothyroidism Onset and Alzheimer Disease Onset in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2021 Sep 16;11(9):1223. doi: 10.3390/brainsci11091223. Free PMC article

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AUTORES / AUTHORS: - Florence Lai et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. 

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age. Equally prevalent in DS is hypothyroidism. In this study, we sought to quantify the relationship between the two. A total of 232 adults with DS and AD were stratified into three AD onset age groups: early (<47 years), typical (48-59), and late (>59). Among patients with available data, differences in the distributions of demographics, hypothyroidism variables (presence, age of onset), thyroid function tests, thyroid autoantibodies, and APOE genotypes were assessed (e.g., chi-squared, Mann-Whitney tests). Spearman and partial Spearman correlations and ordinal logistic regression models were constructed to quantify the association between ages of AD and hypothyroidism onset with and without covariate adjustments. We observed a positive association between the ages of AD and hypothyroidism onset after accounting for APOE-Ɛ4 (correlation: 0.44, 0.24, 0.60; odds ratio: 1.09, 1.05-1.14). However, an early age of hypothyroidism onset and the presence of the APOE-Ɛ4 allele were independently associated with the early age of AD onset. Similar findings were observed when accounting for other factors. Our study provides evidence for the importance of hypothyroidism and associated pathological mechanisms for risk of AD in DS.

TÍTULO / TITLE:   - Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto´s thyroiditis to Graves´ disease and beyond

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REVISTA / JOURNAL:    - Ital J Pediatr. 2015 Nov 11;41:87. doi: 10.1186/s13052-015-0197-4. Free PMC article

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AUTORES / AUTHORS: - Tommaso Aversa et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Via Consolare Valeria, 98125, Messina, Italy.  

RESUMEN / SUMMARY: - Background: It is known that Hashimoto´s thyroiditis (HT) may progress to Graves´ disease (GD) and that this phenomenon may be more frequent in the patients with Down syndrome (DS). Aims: To shed light on the relationships between Down syndrome (DS) and metamorphic thyroid autoimmunity. Patients and methods: We reconstructed the conversion process from HT to GD in 12 DS children. All the data recorded at HT diagnosis and throughout the time interval from entry to GD presentation were retrospectively taken from patients´ files, as well as those recorded at GD diagnosis and during the subsequent evolution. From GD diagnosis all patients underwent methimazole treatment, at a dose that was adjusted on the basis of clinical findings and thyroid tests. Results: Time interval between HT and GD was not different in the seven patients who received during that time a L-thyroxine (L-T4) treatment than in those who were not treated. After methimazole onset all patients exhibited a prolonged remission of hyperthyroidism. In 8/12 patients this treatment is still being continued 2-7 years after its initiation. The mean methimazole dosage needed to maintain euthyroidism in these eight patients was 0.12 ± 0.02 mg/kg/day. In the remaining four patients methimazole was withdrawn from 1.9 to 7 years after its initiation and no relapses were recorded 2.0-2.1 years after its withdrawal. These patients developed, 0.1-0.3 years after methimazole withdrawal, a picture of overt hypothyroidism and needed treatment with L-T4, that is now being continued. No patients needed non-pharmacological therapies. Conclusions: 1) DS children might be incline to manifest over time a phenotypic metamorphosis from HT to GD and to subsequently fluctuate from hyperthyroidism to hypothyroidism; 2) in DS GD may have a mild biochemical and clinical course.

TÍTULO / TITLE:   - Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome

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REVISTA / JOURNAL:    - Biomed Chromatogr. 2021 Sep 26;e5249. doi: 10.1002/bmc.5249. Online ahead of print.

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AUTORES / AUTHORS: - Reiko Iwano et al.

INSTITUCIÓN / INSTITUTION: - Clinical Research Institute, Kanagawa Children´s Medical Center, Yokohama, Japan. 

RESUMEN / SUMMARY: - Thyroid dysfunction is common in patients with Down syndrome (DS), the most common chromosomal disorder. Thyroid hormones (THs) are important for normal growth, neurodevelopment, and metabolism, highlighting the importance of quantifying the levels in patients with DS. However, current methods possess cross-reactivity that results in inaccuracies in quantification. We aimed at developing a new analytical method for quantifying the total 3,3´,5-triiodo-l-thyronine (TT3), total 3,3´,5,5´-tetraiodo-l-thyronine (TT4), 3,3´,5´-triiodo-l-thyronine, and reverse T3 (rT3) levels using LC-MS/MS. Repeatability and reproducibility with coefficient of variation values of 2-9 and 3-13%, respectively, were acceptable, suggesting that the assay was suitable for measuring serum THs. We measured the serum TH levels of patients with DS but without thyroid dysfunction (age, 3-20 years) and compared the levels to those of controls (patients with idiopathic short stature; age, 3-17 years). When TH levels were summarized by age group, the serum TT4 concentrations were not significantly different between the controls and patients with DS across all age groups. Meanwhile, the serum TT3 concentrations differed according to age. In addition, the serum rT3 concentrations were significantly higher in patients with DS than in controls, except for those in the 12-14 age group. We also calculated the T3/T4 and rT3/T4 ratios to elucidate the reason for the higher rT3 in patients with DS; however, no useful findings were obtained. Thus, further investigation is needed to clarify our findings.

TÍTULO / TITLE:   - Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome

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REVISTA / JOURNAL:    - J Pediatr Endocrinol Metab. 2021 Sep 22. doi: 10.1515/jpem-2021-0391. Online ahead of print.

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AUTORES / AUTHORS: - Maria Susan Abraham et al.

INSTITUCIÓN / INSTITUTION: - Department of Family Medicine, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, 600100, India. 

RESUMEN / SUMMARY: - Objectives: Myxedema crisis, a fatal complication of severe hypothyroidism, is extremely rare in children and treatment guidelines are lacking. Since availability of intravenous levothyroxine is limited in resource poor settings, myxedema crisis can be treated with oral levothyroxine and/or oral liothyronine (if necessary), in the absence of cardiac risk factors, thus hastening the recovery and significantly decreasing the associated morbidity and mortality. In the background of untreated hypothyroidism, a possible association of ovarian hyperstimulation syndrome (OHSS) and reactive pituitary hyperplasia should be kept in mind, thus preventing unnecessary interventions. Case presentation: A 13-year-old girl child with Down syndrome, presented with myxedema crisis, as initial presentation of untreated hypothyroidism. Conclusions: Annual screening, timely diagnosis of hypothyroidism, and early initiation of thyroid hormone supplementation will prevent associated physical and neurocognitive morbidity in children, especially those with Down syndrome. Importance of oral liothyronine supplementation in myxedema crisis, has been highlighted in this case report.

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, Portugal  

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.

TÍTULO / TITLE:   - A Rare Cause of Autistic Regression in a Boy with Down Syndrome: Hashimoto Encephalopathy

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REVISTA / JOURNAL:    - J Pediatr Neurosci. Jan-Mar 2021;16(1):65-68. doi: 10.4103/jpn.JPN_170_19. Epub 2021 Jun 25. Free P

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AUTORES / AUTHORS: - Ayşe Nurcan Cebeci et al. 

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Endocrinology, DemirogluBilim University, Istanbul, Turkey. 

RESUMEN / SUMMARY: - Background: Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation. Case report: Six years and six months old boy with Down syndrome admitted due to loss of speech. His physical development was appropriate for his age and had no goiter. Neurological examination revealed the absence of eye contact and stereotypic movements. Autism spectrum disorder was considered based on his result on Gilliam autism evaluation scale. He had subclinical hypothyroidism with markedly elevated anti-thyroid peroxidase antibody level, rare spikes in the frontocentral area were found in electroencephalography, and cranial magnetic resonance imaging was normal. Neurologic improvement was observed to a treatment with glucocorticoid and thyroid hormone. Conclusion: HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.

TÍTULO / TITLE:   - Undetected Long-Term Hypothyroidism Caused by Hashimoto´s Thyroiditis with Severe Cardiac Complications - An Unusual Case of Child Neglect

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REVISTA / JOURNAL:    - Klin Padiatr. 2021 Sep 20. doi: 10.1055/a-1559-3872. Online ahead of print.

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AUTORES / AUTHORS: - Karl Otto Schneider 1

INSTITUCIÓN / INSTITUTION: - Pediatric Radiology, University of Munich, Munich, Germany. 

RESUMEN / SUMMARY: - Neglect in childhood may often be undetected for a long time. Parents of patients of handicapped children are often unable to cope with multiple medical and psychological problems that exist with such patients despite support by the health services [Jacobi G, Dettmeyer R, Banaschak S, Brosig B et al. Child abuse and neglect: diagnosis and management. Dtsch Arztebl Int 2010; 107: 231-240]. This is especially true for patients with trisomy 21 because they frequently suffer from complex congenital heart disease, feeding difficulties and behaviour anomalies. Additionally, various degrees of hypothyroidism are very frequent in Down syndrome but rarely lead - as in our case - to a life threatening disease.

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Causes of death in patients with Down syndrome in 2014-2016: A population study in Japan

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REVISTA / JOURNAL:    - Am J Med Genet A. 2021 Oct 7. doi: 10.1002/ajmg.a.62526. Online ahead of print.

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AUTORES / AUTHORS: - Narumi Motegi et al

INSTITUCIÓN / INSTITUTION: - Department of Specific Pediatric Chronic Disease Information, National Center for Child Health and Development, Tokyo, Japan. 

RESUMEN / SUMMARY: - Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014-2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92-84.12]), early-onset Alzheimer´s disease, defined as Alzheimer´s disease with onset <65 years of age (29.36 [16.44-52.44]), aspiration pneumonia (18.33 [14.03-23.96]), pneumonia/respiratory infections (8.11 [6.76-9.73]), congenital malformations of the circulatory system (8.07 [5.98-10.88]), and leukemia/lymphoma (2.16 [1.55-2.99]) but lower for malignant solid tumors (0.04 [0.02-0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimer´s disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.

TÍTULO / TITLE:   - The Impact of Childhood Disease on Hospital Visiting: A Survey of Pediatricians

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REVISTA / JOURNAL:    - J Nippon Med Sch. 2021 Sep 14. doi: 10.1272/jnms.JNMS.2022_89-214. Online ahead of print. Free arti

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AUTORES / AUTHORS: - Hanako Tajima et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Nippon Medical School Musashi-Kosugi Hospital. 

RESUMEN / SUMMARY: - Background: The precise timing as to when caregivers should take their children to the hospital is crucial to ensure the health and safety of children. As children cannot make these decisions on their own, caregivers bear the core responsibility for the wellness of their children. The aim of this study was to determine how disease, disabilities and child behavior can influence when and how often caregivers take their children to the hospital. Methods: A structured anonymous online survey was circulated to pediatricians in Japan. Pediatricians were queried about the patients´ dispositions including their reactivity to pain, expression of pain, behavior at the hospital, and the timing of the visit. Patients were school-aged children and included those with autism spectrum disorder, attention-deficit hyperactivity disorder, Down syndrome, mental retardation, epilepsy, premature birth or allergies. Results: Sixty-eight out of the 80 pediatricians responded to the survey (85% response rate). The results indicated that caregivers of the children with autism spectrum disorder, attention-deficit hyperactivity disorder and mental retardation took them to the hospital later than they should have essentially done. Conversely, children born prematurely or those with allergies were taken to the hospitals even when the symptoms were mild. Conclusions: Caregivers make decisions on when to visit the hospital based on the child´s expression of pain and their behavior. The creation of guidelines to give appropriate guidance to caregivers as to when to visit the hospital is essential.

Genetics - Genética

TÍTULO / TITLE:   - NANOS3 downregulation in Down syndrome hiPSCs during primordial germ cell-like cell differentiation

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REVISTA / JOURNAL:    - Histochem Cell Biol. 2021 Oct 15. doi: 10.1007/s00418-021-02040-6. Online ahead of print.

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AUTORES / AUTHORS: - V K Abdyyev et al

INSTITUCIÓN / INSTITUTION: - Koltzov Institute of Developmental Biology of Russian Academy of Sciences, ul. Vavilova, 26, Moscow, 119334, Russia. 

RESUMEN / SUMMARY: - Human infertility is a complex disorder at the genetic, molecular, cellular, organ, and hormonal levels. New developing technology based on the generation of human primordial germ cell-like cells (hPGCLCs) from induced pluripotent stem cells (hiPSCs) might improve understanding of early germ cell development (specification, migration, gametogenesis, and epigenetic reconstitutions), as well as offering a solution for infertility and hereditary disorders. In this study, we differentiated hiPSCs with trisomy 21 into hPGCLCs. In vitro-derived germ cells from hiPSCs with Down syndrome (DS) express hPGCLC core circuitry, EOMES, SOX17, and PRDM14 at relatively low levels. TFAP2C and PRDM1 were expressed and remained elevated, whereas NANOS3 and NANOG were downregulated in BMP4-induced hiPSCs with DS. The low level of NANOG and NANOS3 expression might negatively influence hPGCLC generation in DS hiPSCs. We suggest that DS hPGCLCs could be a suitable model for studying human early germ cell development, the epigenetic and molecular mechanisms of PGC specification and formation, as well as related infertility disorders, such as azoospermia and teratozoospermia.

TÍTULO / TITLE:   - Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome

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REVISTA / JOURNAL:    - Genes (Basel). 2021 Nov 20;12(11):1833. doi: 10.3390/genes12111833. Free PMC article

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AUTORES / AUTHORS: - Helin Atas-Ozcan

INSTITUCIÓN / INSTITUTION: - Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1 rue Laurent Fries, 67404 Illkirch Graffenstaden, France. 

RESUMEN / SUMMARY: - Down syndrome is the main cause of intellectual disabilities with a large set of comorbidities from developmental origins but also that appeared across life span. Investigation of the genetic overdosage found in Down syndrome, due to the trisomy of human chromosome 21, has pointed to one main driver gene, the Dual-specificity tyrosine-regulated kinase 1A (Dyrk1a). Dyrk1a is a murine homolog of the drosophila minibrain gene. It has been found to be involved in many biological processes during development and in adulthood. Further analysis showed its haploinsufficiency in mental retardation disease 7 and its involvement in Alzheimer´s disease. DYRK1A plays a role in major developmental steps of brain development, controlling the proliferation of neural progenitors, the migration of neurons, their dendritogenesis and the function of the synapse. Several strategies targeting the overdosage of DYRK1A in DS with specific kinase inhibitors have showed promising evidence that DS cognitive conditions can be alleviated. Nevertheless, providing conditions for proper temporal treatment and to tackle the neurodevelopmental and the neurodegenerative aspects of DS across life span is still an open question.

TÍTULO / TITLE:   - Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes

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REVISTA / JOURNAL:    - Dis Model Mech. 2021 Oct 1;14(10):dmm049157. doi: 10.1242/dmm.049157. Epub 2021 Oct 15. Free PMC ar

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AUTORES / AUTHORS: - Eva Lana-Elola et al.

INSTITUCIÓN / INSTITUTION: - The Francis Crick Institute, London NW1 1AT, UK. 

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy 21, results in many complex phenotypes including cognitive deficits, heart defects and craniofacial alterations. Phenotypes arise from an extra copy of human chromosome 21 (Hsa21) genes. However, these dosage-sensitive causative genes remain unknown. Animal models enable identification of genes and pathological mechanisms. The Dp1Tyb mouse model of DS has an extra copy of 63% of Hsa21-orthologous mouse genes. In order to establish whether this model recapitulates DS phenotypes, we comprehensively phenotyped Dp1Tyb mice using 28 tests of different physiological systems and found that 468 out of 1800 parameters were significantly altered. We show that Dp1Tyb mice have wide-ranging DS-like phenotypes, including aberrant erythropoiesis and megakaryopoiesis, reduced bone density, craniofacial changes, altered cardiac function, a pre-diabetic state, and deficits in memory, locomotion, hearing and sleep. Thus, Dp1Tyb mice are an excellent model for investigating complex DS phenotype-genotype relationships for this common disorder.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements

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REVISTA / JOURNAL:    - Front Nutr 2021 Sep 8;8:641112. doi: 10.3389/fnut.2021.641112. eCollection 2021. Free PMC article

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AUTORES / AUTHORS: - Giulia Roccatello et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Introduction: Children with Down Syndrome (DS) have nutritional problems with unknown implications besides increased potential for obesity. Their food habits are unknown. We aim to delineate eating and lifestyle habits of DS children attending a multispecialist program to identify the challenges they face and the potential improvements. Patients and Methods: We interacted with 34 DS children (22 males, 12 females, 2-16 years old) and their families. Food habits, medical conditions and treatments, degrees of development and physical activity, anthropometric and laboratory data were recorded over 6 months and analyzed. A 3-day food diary and a 24-h recall food frequency questionnaire were administered. Results: Twenty-nine (85%) children completed meals, only 11 (32%) received alternative food such as milk. Weaning regularly started in 25 (73%) children. Preschool children introduced adequate calories and nutrients. School children and adolescents did not reach recommendations. All age groups, as the general pediatric population, excessively ate protein and saturated fat, and preferred bread, pasta, fruit juices, meat and cold cuts. Peculiarly, pulses and fish were adequately assumed by preschool and school children, respectively. Five children (15%) were overweight/obese. Conclusions: Dietary excesses commonly found in the general pediatric population are also present in this DS group, proving a narrowing gap between the two. DS group performed better nutritionally in the early years and overweight/obesity occurrence seems contained. DS children may benefit from a practical yet professional care-program in which nutrition education may improve their growth, development and transition into adulthood.

TÍTULO / TITLE:   - Prevalence of overweight and obesity in children and adolescents with intellectual disabilities in China

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2021 Jul;65(7):655-665. doi: 10.1111/jir.12840. Epub 2021 Apr 14.

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AUTORES / AUTHORS: - Y Q Yuan et al.

INSTITUCIÓN / INSTITUTION: - College of Sports and Health, Shandong Sport University, Jinan, China. 

RESUMEN / SUMMARY: - Background: Overweight and obesity in children and adolescents has become a worldwide epidemic. There are several studies that have concentrated on the prevalence rate of children and adolescents with intellectual disabilities (ID), whereas data on such a population on the mainland of China remain unclear. The purpose of this study was to investigate the prevalence rate of overweight and obesity among school-aged children and adolescents with ID on China´s mainland. Methods: This study employed a cross-sectional design to examine the body weight status of 1873 children and adolescents (ages 6-18 years old) with ID in 35 special education schools. Body mass index was calculated, and the concepts of overweight and obesity were defined according to the standard of the Working Group for Obesity in China. Results: Data indicated that 18.2% (95% CI: 16.5%-20.0%) of children and adolescents with ID were overweight and 14.4% (95% CI: 12.8%-16.0%) were obese. Boys with ID were more likely to be overweight than girls with ID (OR = 1.48[95% CI: 1.13-1.94], P < 0.05). Children and adolescents with Down syndrome or autism spectrum disorder had a trend to be classified as overweight (OR = 1.76[95% CI: 1.22-2.54], P < 0.05; OR = 1.57[95% CI: 1.17-2.09], P < 0.05, respectively) or obesity (OR = 1.82[95% CI: 1.23-2.69], P < 0.05; OR = 1.40 [95% CI: 1.02-1.93], P < 0.05, respectively) compared with those with ID without these conditions. Moreover, children and teenagers with ID living in urban areas had a predisposition to be overweight (OR = 2.16[95% CI: 1.14-4.09], P < 0.05) or obese (OR = 3.25[95% CI: 1.41-7.50], P < 0.05) relative to those who lived in rural areas. Conclusion: Results indicated that in China, the prevalence rate of overweight and obesity among school-aged children and adolescents with ID was remarkably high. Therefore, future research should make every effort to focus on reducing and preventing overweight and obesity of this population in China.

Gynecology - Ginecología

TÍTULO / TITLE:   - Characteristics of Menarcheal Age, Menstrual Hygiene and Socio-Demographic Factors in Girls with Down Syndrome in Morocco

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REVISTA / JOURNAL:    - Soc Work Public Health. 2021 Jul 4;36(5):537-547. doi: 10.1080/19371918.2021.1924913. Epub 2021 May

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AUTORES / AUTHORS: - Zahra Oulmane et al.

INSTITUCIÓN / INSTITUTION: - Department of Biology, Laboratory of Human Ecology, Faculty of Sciences Semlalia, Cadi Ayyad University, Marrakech, Morocco. 

RESUMEN / SUMMARY: - The purpose of this study was to determine the characteristics of menarcheal age, menstrual hygiene and their associated socio-demographic factors in girls with Down syndrome (DS) in Morocco. An analytical cross-sectional study was conducted between May 2014 and November 2017, including 59 parents/guardians of girls with Down syndrome aged 9-32 years. Data were collected through a standardized questionnaire providing information about socio-demographic and cultural conditions of parents, nutritional status and some functional abilities of girls. The median age at menarche was estimated using retrospective and status-quo methods, respectively. Data were entered and analyzed using the statistical program SPSS statistics software for Windows (version 20.0). Chi-square (χ2) and Mann-Whitney tests were used for testing statistical significance. The age at menarche ranged from 9 to 16 years old. The median was 13.0 (IQR, 11.0-14.0) years. The median age of menarche by probit analysis was 12.55 years. The relationship between menarcheal age, menstrual hygiene and the selected parameters showed a significant difference in age at menarche only regarding the parameter of number of siblings (Z = 2.14; p = .03), and in menstrual hygiene regarding mother´s level of education, family size and age of talking (χ2 = 5.04, p = .02; χ2 = 3.75, p = .05 and χ2 = 4.99, p = .02, respectively). Most girls with DS attain menarche at the usual age as their counterparts in the general population and do not have enough knowledge about menstruation. Mobilization of all interventionists is urgent to develop adolescent skills about practices related to menstruation and menstrual hygiene.

Hematology/Oncology - Hematología/Oncología

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.PMID: 34560013 . Free

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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 [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

TÍTULO / TITLE:   - Azacitidine regulates DNA methylation of GADD45γ in myelodysplastic syndromes

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REVISTA / JOURNAL:    - J Clin Lab Anal. 2021 Feb;35(2):e23597. doi: 10.1002/jcla.23597. Epub 2020 Oct 20. Free PMC article

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AUTORES / AUTHORS: - Yanli Yang et al

INSTITUCIÓN / INSTITUTION: - Department of Hematology, The First Affiliated Hospital of Bengbu Medical College, Bengbu City, China. 

RESUMEN / SUMMARY: - Background: Myelodysplastic syndrome (MDS) is a heterogeneous clonal disease originated from hematopoietic stem cells. Epigenetic studies had demonstrated that DNA methylation and histone acetylation were abnormal in MDS. Azacitidine is an effective drug in the treatment of demethylation. Methods: RT-PCR was performed to determine GADD45γ in 15 MDS clinical samples. Myelodysplastic syndrome cell lines SKM-1 and HS-5 were transfected with GADD45γ eukaryotic expression vector and/or GADD45γ shRNA interference plasmid, and treated with azacitidine. Proliferation and apoptosis were examined by CCK-8 and Western blot analysis to confirm the function role of GADD45γ and azacitidine. The methylation level of GADD45γ gene was detected by bisulfite conversion and PCR. Results: This study found that GADD45γ gene was down-expressed in MDS patients´ bone marrow and MDS cell lines, and the down-regulation of GADD45γ in MDS could inhibit MDS cell apoptosis and promote proliferation. Azacitidine, a demethylation drug, could restore the expression of GADD45γ in MDS cells and inhibit the proliferation of MDS cells by inducing apoptosis, which was related to prognosis and transformation. Conclusion: This study indicated that GADD45γ was expected to become a new target of MDS-targeted therapy. The findings of this study provided a new direction for the research and development of new MDS clinical drugs, and gave a new idea for the development of MDS demethylation drug to realize precise treatment.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Specific Susceptibility to COVID-19 in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Neuromolecular Med. 2021 Dec;23(4):561-571. doi: 10.1007/s12017-021-08651-5. Epub 2021 Mar 4.

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AUTORES / AUTHORS: - Tomer Illouz et al.

INSTITUCIÓN / INSTITUTION: - The Leslie and Susan Gonda Multidisciplinary Brain Research Center, Bar-Ilan University, 5290002, Ramat-Gan, Israel. 

RESUMEN / SUMMARY: - The current SARS-CoV-2 outbreak, which causes COVID-19, is particularly devastating for individuals with chronic medical conditions, in particular those with Down Syndrome (DS) who often exhibit a higher prevalence of respiratory tract infections, immune dysregulation and potential complications. The incidence of Alzheimer´s disease (AD) is much higher in DS than in the general population, possibly increasing further the risk of COVID-19 infection and its complications. Here we provide a biological overview with regard to specific susceptibility of individuals with DS to SARS-CoV-2 infection as well as data from a recent survey on the prevalence of COVID-19 among them. We see an urgent need to protect people with DS, especially those with AD, from COVID-19 and future pandemics and focus on developing protective measures, which also include interventions by health systems worldwide for reducing the negative social effects of long-term isolation and increased periods of hospitalization.

TÍTULO / TITLE:   - Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

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REVISTA / JOURNAL:    - Front Neurol. 2021 Sep 8;12:724969. doi: 10.3389/fneur.2021.724969. eCollection 2021. Free PMC arti

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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, United States. 

RESUMEN / SUMMARY: - Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population. Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression. Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82-5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17-1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08-6.08). Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.

TÍTULO / TITLE:   - Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence

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REVISTA / JOURNAL:    - J Inflamm Res. 2021 Oct 7;14:5187-5200. doi: 10.2147/JIR.S280953. eCollection 2021. Free PMC article

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AUTORES / AUTHORS: - Howard Chung et al

INSTITUCIÓN / INSTITUTION: - Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (IFN-R) genes on its long arm. Recent studies reporting higher levels of interferon-stimulated gene (ISG) expression in primary immune cells studied ex vivo have suggested that the additional copies of the IFN-R genes in DS result in mild interferonopathy. In this review, we analyze the potential clinical and immunological impacts of this interferonopathy in DS. We performed a literature review to explore the epidemiology and risks of celiac disease, type 1 diabetes, thyroid dysfunction, mucocutaneous manifestations, infectious diseases (including COVID-19), and Alzheimer´s disease in individuals with DS relative to the general population with or without iatrogenic exposure to interferons. We analyzed immunophenotyping data and the current experimental evidence concerning IFN-R expression, constitutive JAK-STAT activation, and ISG overexpression in DS. Despite the lack of direct evidence that implicating this mild interferonopathy directly in illnesses in individuals with DS, we highlight the challenges ahead and directions that could be taken to determine more clearly the biological impact of interferonopathy on various immune-related conditions in DS.

TÍTULO / TITLE:   - Innate Immune System Activation and Neuroinflammation in Down Syndrome and Neurodegeneration: Therapeutic Targets or Partners?

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2021 Sep 16;13:718426. doi: 10.3389/fnagi.2021.718426. eCollection 2021. Free

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AUTORES / AUTHORS: - Md Mahiuddin Ahmed et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States. 

RESUMEN / SUMMARY: - Innate immune system activation and inflammation are associated with and may contribute to clinical outcomes in people with Down syndrome (DS), neurodegenerative diseases such as Alzheimer´s disease (AD), and normal aging. In addition to serving as potential diagnostic biomarkers, innate immune system activation and inflammation may play a contributing or causal role in these conditions, leading to the hypothesis that effective therapies should seek to dampen their effects. However, recent intervention studies with the innate immune system activator granulocyte-macrophage colony-stimulating factor (GM-CSF) in animal models of DS, AD, and normal aging, and in an AD clinical trial suggest that activating the innate immune system and inflammation may instead be therapeutic. We consider evidence that DS, AD, and normal aging are accompanied by innate immune system activation and inflammation and discuss whether and when during the disease process it may be therapeutically beneficial to suppress or promote such activation.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Energy Metabolism and Intracellular pH Alteration in Neural Spheroids Carrying Down Syndrome

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REVISTA / JOURNAL:    - Biomedicines 2021 Nov 22;9(11):1741. doi: 10.3390/biomedicines9111741. Free PMC article

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AUTORES / AUTHORS: - Alena Kashirina et al

INSTITUCIÓN / INSTITUTION: - Institute of Experimental Oncology and Biomedical Technologies, Privolzhsky Research Medical University, 603005 Nizhny Novgorod, Russia. 

RESUMEN / SUMMARY: - Brain diseases including Down syndrome (DS/TS21) are known to be characterized by changes in cellular metabolism. To adequately assess such metabolic changes during pathological processes and to test drugs, methods are needed that allow monitoring of these changes in real time with minimally invasive effects. Thus, the aim of our work was to study the metabolic status and intracellular pH of spheroids carrying DS using fluorescence microscopy and FLIM. For metabolic analysis we measured the fluorescence intensities, fluorescence lifetimes and the contributions of the free and bound forms of NAD(P)H. For intracellular pH assay we measured the fluorescence intensities of SypHer-2 and BCECF. Data were processed with SPCImage and Fiji-ImageJ. We demonstrated the predominance of glycolysis in TS21 spheroids compared with normal karyotype (NK) spheroids. Assessment of the intracellular pH indicated a more alkaline intracellular pH in the TS21 spheroids compared to NK spheroids. Using fluorescence imaging, we performed a comprehensive comparative analysis of the metabolism and intracellular pH of TS21 spheroids and showed that fluorescence microscopy and FLIM make it possible to study living cells in 3D models in real time with minimally invasive effects.

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.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Time-dependent diffusion MRI probes cerebellar microstructural alterations in a mouse model of Down syndrome

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REVISTA / JOURNAL:    - Brain Commun. 2021 Apr 5;3(2):fcab062. doi: 10.1093/braincomms/fcab062. eCollection 2021. Free PMC

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AUTORES / AUTHORS: - Dan Wu , Yi Zhang et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA. 

RESUMEN / SUMMARY: - The cerebellum is a complex system with distinct cortical laminar organization. Alterations in cerebellar microstructure are common and associated with many factors such as genetics, cancer and ageing. Diffusion MRI (dMRI) provides a non-invasive tool to map the brain structural organization, and the recently proposed diffusion-time (td )-dependent dMRI further improves its capability to probe the cellular and axonal/dendritic microstructures by measuring water diffusion at multiple spatial scales. The td -dependent diffusion profile in the cerebellum and its utility in detecting cerebellar disorders, however, are not yet elucidated. Here, we first deciphered the spatial correspondence between dMRI contrast and cerebellar layers, based on which the cerebellar layer-specific td -dependent dMRI patterns were characterized in both euploid and Ts65Dn mice, a mouse model of Down syndrome. Using oscillating gradient dMRI, which accesses diffusion at short td ´s by modulating the oscillating frequency, we detected subtle changes in the apparent diffusivity coefficient of the cerebellar internal granular layer and Purkinje cell layer of Ts65Dn mice that were not detectable by conventional pulsed gradient dMRI. The detection sensitivity of oscillating gradient dMRI increased with the oscillating frequency at both the neonatal and adult stages. The td -dependence, quantified by ΔADC map, was reduced in Ts65Dn mice, likely associated with the reduced granule cell density and abnormal dendritic arborization of Purkinje cells as revealed from histological evidence. Our study demonstrates superior sensitivity of short-td diffusion using oscillating gradient dMRI to detect cerebellar microstructural changes in Down syndrome, suggesting the potential application of this technique in cerebellar disorders.

TÍTULO / TITLE:   - Novel DYRK1A Inhibitor Rescues Learning and Memory Deficits in a Mouse Model of Down Syndrome

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REVISTA / JOURNAL:    - Pharmaceuticals (Basel). 2021 Nov 17;14(11):1170. doi: 10.3390/ph14111170. Free PMC article

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AUTORES / AUTHORS: - Wenche Stensen et al.

INSTITUCIÓN / INSTITUTION: - Department of Chemistry, UiT, The Arctic University of Norway, 9037 Tromsø, Norway. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a complex genetic disorder associated with substantial physical, cognitive, and behavioral challenges. Due to better treatment options for the physical co-morbidities of DS, the life expectancy of individuals with DS is beginning to approach that of the general population. However, the cognitive deficits seen in individuals with DS still cannot be addressed pharmacologically. In young individuals with DS, the level of intellectual disability varies from mild to severe, but cognitive ability generally decreases with increasing age, and all individuals with DS have early onset Alzheimer´s disease (AD) pathology by the age of 40. The present study introduces a novel inhibitor for the protein kinase DYRK1A, a key controlling kinase whose encoding gene is located on chromosome 21. The novel inhibitor is well characterized for use in mouse models and thus represents a valuable tool compound for further DYRK1A research.

TÍTULO / TITLE:   - Aberrant crosstalk between insulin signaling and mTOR in young Down syndrome individuals revealed by neuronal-derived extracellular vesicles

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REVISTA / JOURNAL:    - Alzheimer´s Dement. 2021 Nov 23. doi: 10.1002/alz.12499. Online ahead of print.

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AUTORES / AUTHORS: - Marzia Perluigi et al.

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

RESUMEN / SUMMARY: - Introduction: Intellectual disability, accelerated aging, and early-onset Alzheimer-like neurodegeneration are key brain pathological features of Down syndrome (DS). Although growing research aims at the identification of molecular pathways underlying the aging trajectory of DS population, data on infants and adolescents with DS are missing. Methods: Neuronal-derived extracellular vesicles (nEVs) were isolated form healthy donors (HDs, n = 17) and DS children (n = 18) from 2 to 17 years of age and nEV content was interrogated for markers of insulin/mTOR pathways. Results: nEVs isolated from DS children were characterized by a significant increase in pIRS1Ser636 , a marker of insulin resistance, and the hyperactivation of the Akt/mTOR/p70S6K axis downstream from IRS1, likely driven by the higher inhibition of Phosphatase and tensin homolog (PTEN). High levels of pGSK3βSer9 were also found. Conclusions: The alteration of the insulin-signaling/mTOR pathways represents an early event in DS brain and likely contributes to the cerebral dysfunction and intellectual disability observed in this unique population.

TÍTULO / TITLE:   - Discovery of novel 6-hydroxybenzothiazole urea derivatives as dual Dyrk1A/α-synuclein aggregation inhibitors with neuroprotective effects

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REVISTA / JOURNAL:    - Eur J Med Chem. 2021 Oct 9;227:113911. doi: 10.1016/j.ejmech.2021.113911. Online ahead of print.

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AUTORES / AUTHORS: - Yasmeen T AlNajjar et al.

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Chemistry, Faculty of Pharmacy and Biotechnology, German University in Cairo, Cairo, 11835, Egypt. 

RESUMEN / SUMMARY: - A role of Dyrk1A in the progression of Down syndrome-related Alzheimer´s disease (AD) is well supported. However, the involvement of Dyrk1A in the pathogenesis of Parkinson´s disease (PD) was much less studied, and it is not clear whether it would be promising to test Dyrk1A inhibitors in relevant PD models. Herein, we modified our previously published 1-(6-hydroxybenzo[d]thiazol-2-yl)-3-phenylurea scaffold of Dyrk1A inhibitors to obtain a new series of analogues with higher selectivity for Dyrk1A on the one hand, but also with a novel, additional activity as inhibitors of α-synuclein (α-syn) aggregation, a major pathogenic hallmark of PD. The phenyl acetamide derivative b27 displayed the highest potency against Dyrk1A with an IC50 of 20 nM and high selectivity over closely related kinases. Furthermore, b27 was shown to successfully target intracellular Dyrk1A and to inhibit SF3B1 phosphorylation in HeLa cells with an IC50 of 690 nM. In addition, two compounds among the Dyrk1A inhibitors, b1 and b20, also suppressed the aggregation of α-synuclein (α-syn) oligomers (with IC50 values of 10.5 μM and 7.8 μM, respectively). Both compounds but not the Dyrk1A reference inhibitor harmine protected SH-SY5Y neuroblastoma cells against α-syn-induced cytotoxicity, with b20 exhibiting a higher neuroprotective effect. Compound b1 and harmine were more efficient in protecting SH-SY5Y cells against 6-hydroxydopamine-induced cell death, an effect that was previously correlated to Dyrk1A inactivation in cells but not yet verified using chemical inhibitors. The presented dual inhibitors exhibited a novel activity profile encouraging for further testing in neurodegenerative disease models.

TÍTULO / TITLE:   - A review of behavioral methods for the evaluation of cognitive performance in animal models: Current techniques and links to human cognition

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REVISTA / JOURNAL:    - Physiol Behav. 2021 Nov 18;113652. doi: 10.1016/j.physbeh.2021.113652. Online ahead of print.

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AUTORES / AUTHORS: - Maryam Ghafarimoghadam et al

INSTITUCIÓN / INSTITUTION: - Department of pharmaceutical chemistry, faculty of pharmaceutical chemistry, pharmaceutical sciences branch, Islamic Azad University (IUAPS), Tehran, Iran. 

RESUMEN / SUMMARY: - Introduction: Memory is defined as the ability to store, maintain and retrieve information. Learning is the acquisition of information that changes behavior and memory. Stress, dementia, head trauma, amnesia, Alzheimer´s, Huntington, Parkinson´s, Wernicke-Korsakoff syndrome (WKS) may be mentioned among the diseases in which memory and learning are affected. The task of understanding deficits in memory and learning in humans is daunting due to the complexity of neural and cognitive mechanisms in the nervous system. This job is made more difficult for clinicians and researchers by the fact that many techniques used to research memory are not ethically acceptable or technically feasible for use in humans. Thus, animal models have been necessary alternative for studying normal and disordered learning and memory. This review attempts to bridge these domains to allow biomedical researchers to have a firm grasp of "memory" and "learning" as constructs in humans whereby they may then select the proper animal cognitive test. Results and conclusion: Various tests (open field habituation test, Y-maze test, passive avoidance test, step-down inhibitory avoidance test, active avoidance test, 8-arms radial maze test, Morris water maze test, radial arm water maze, novel object recognition test and gait function test) have been designed to evaluate different kinds of memory. Each of these tests has their strengths and limits. Abnormal results obtained using these tasks in non-human animals indicate malfunctions in memory which may be due to several physiological and psychological diseases of nervous system. Further studies by using the discussed tests can be very beneficial for achieving a therapeutic answer to these diseases.

Neurology - Neurología

TÍTULO / TITLE:   - Structural magnetic resonance imaging demonstrates volumetric brain abnormalities in Down syndrome: Newborns to young adults

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REVISTA / JOURNAL:    - Neuroimage Clin. 2021 Sep 3;32:102815. doi: 10.1016/j.nicl.2021.102815. Online ahead of print. Free

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AUTORES / AUTHORS: - Bernadette McCann

INSTITUCIÓN / INSTITUTION: - Department of Human Kinetics, St. Francis Xavier University, Antigonish, NS B2G 2W5, Canada. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21 and characterized by intellectual disability. We hypothesize that performing a retrospective analysis of 73 magnetic resonance imaging (MRI) examinations of participants with DS (aged 0 to 22 years) and comparing them to a large cohort of 993 brain MRI examinations of neurotypical participants (aged 0 to 32 years), will assist in better understanding what brain differences may explain phenotypic developmental features in DS, as well as to provide valuable confirmation of prospective literature findings clinically. Measurements for both absolute volumes and volumes corrected as a percentage of estimated total intracranial volume (%ETIV) were extracted from each examination. Our results presented novel findings such as volume increases (%ETIV) in the perirhinal cortex, entorhinal cortex, choroid plexus, and Brodmann´s areas (BA) 3a, 3b, and 44, as well as volume decreases (%ETIV) in the white matter of the cuneus, the paracentral lobule, the postcentral gyrus, and the supramarginal gyrus. We also confirmed volumetric brain abnormalities previously discussed in the literature. Findings suggest the presence of volumetric brain abnormalities in DS that can be detected clinically with MRI.

TÍTULO / TITLE:   - Hispano-American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders

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REVISTA / JOURNAL:    - Brain Pathol. 2021 Sep 13;e13019. doi: 10.1111/bpa.13019. Online ahead of print.

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AUTORES / AUTHORS: - Brett D Dufour et al.

INSTITUCIÓN / INSTITUTION: - Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA. 

RESUMEN / SUMMARY: - Neurodevelopmental disorders (NDDs) are conditions that present with brain dysfunction due to alterations in the processes of brain development. They present with neuropsychiatric, cognitive, and motor symptoms. Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are two of the most common NDDs. Human brain tissue is a scarce resource that is obtained from postmortem donations. In the case of NDDs, specifically autism, the reduced donation rate of brains prevents researchers to investigate its pathology and fine anatomy. The Hispano-American Brain Bank of Neurodevelopmental Disorders (Banco Hispanoamericano de CErebros de trastornos del NEurodesarrollo) or CENE is a large-scale brain bank for neurodevelopmental disorders in Hispano-America and the US. CENE´s objectives are to collect and distribute brains of patients with NDDS, with a focus on ASD and FXS, to perform research, promote education of future scientists, and enhance public awareness about the importance of human tissue availability for scientific research on brain function and disease. CENE has thus far established a bilingual system of nodes and teams in several American countries including California-US, Pennsylvania-US, México, Puerto Rico, Colombia, and Dominican Republic. CENE ensures that postmortem NDD samples used in research better match the world´s genetic and ethnic diversity. CENE enables and expands NDD brain research worldwide, particularly with respect to ASD and FXS.

TÍTULO / TITLE:   - Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

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REVISTA / JOURNAL:    - Front Neurol. 2021 Sep 8;12:724969. doi: 10.3389/fneur.2021.724969. eCollection 2021. Free PMC arti

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AUTORES / AUTHORS: -

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

RESUMEN / SUMMARY: - Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population. Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression. Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82-5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17-1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08-6.08). Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.

TÍTULO / TITLE:   - Neurologic complications of Down syndrome: a systematic review

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REVISTA / JOURNAL:    - J Neurol. 2021 Dec;268(12):4495-4509. doi: 10.1007/s00415-020-10179-w. Epub 2020 Sep 12.

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AUTORES / AUTHORS: - Jonathan D Santoro et al.

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

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for increased life span of persons with DS, although disorders of the neurologic system remain underexplored. The purpose of this systematic review is to provide clinically pertinent information on the neurological phenotypes of frequently occurring or clinically relevant conditions. A retrospective review of MEDLINE, Scopus, and Pubmed were used to identify sources among seventeen, clinically relevant, search categories. MeSH terms all contained the phrase "Down Syndrome" in conjunction with the topic of interest. ´Frequently-occurring´ was defined as prevalent in more than 10% of persons with DS across their lifespan, whereas ´clinically-relevant´ was defined as a disease condition where early diagnosis or intervention can augment the disease course. In total, 4896 sources were identified with 159 sources meeting criteria for inclusion. Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instability, autism spectrum disorder, epilepsy, cerebrovascular disease, Alzheimer´s disease and neuropsychiatric disease. The results of this review provide a blueprint for the clinical neurologist taking care of persons with DS across the age spectrum and indicate that there are many underrecognized and misdiagnosed co-occurring conditions in DS, highlighting the need for further research.

TÍTULO / TITLE:   - Innate Immune System Activation and Neuroinflammation in Down Syndrome and Neurodegeneration: Therapeutic Targets or Partners?

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2021 Sep 16;13:718426. doi: 10.3389/fnagi.2021.718426. eCollection 2021. Free

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AUTORES / AUTHORS: - Md Mahiuddin Ahmed et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States. 

RESUMEN / SUMMARY: - Innate immune system activation and inflammation are associated with and may contribute to clinical outcomes in people with Down syndrome (DS), neurodegenerative diseases such as Alzheimer´s disease (AD), and normal aging. In addition to serving as potential diagnostic biomarkers, innate immune system activation and inflammation may play a contributing or causal role in these conditions, leading to the hypothesis that effective therapies should seek to dampen their effects. However, recent intervention studies with the innate immune system activator granulocyte-macrophage colony-stimulating factor (GM-CSF) in animal models of DS, AD, and normal aging, and in an AD clinical trial suggest that activating the innate immune system and inflammation may instead be therapeutic. We consider evidence that DS, AD, and normal aging are accompanied by innate immune system activation and inflammation and discuss whether and when during the disease process it may be therapeutically beneficial to suppress or promote such activation.

TÍTULO / TITLE:   - Thalamocortical interactions in cognition and disease: The mediodorsal and anterior thalamic nuclei

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REVISTA / JOURNAL:    - Neurosci Biobehav Rev. 2021 Nov;130:162-177. doi: 10.1016/j.neubiorev.2021.05.032. Epub 2021 Jun 30

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AUTORES / AUTHORS: - Brook A L Perry, Eleonora Lomi, Anna S Mitchell 

INSTITUCIÓN / INSTITUTION: - Department of Experimental Psychology, Oxford University, The Tinsley Building, Mansfield Road, OX1 3SR, United Kingdom. 

RESUMEN / SUMMARY: - The mediodorsal thalamus (MD) and anterior thalamic nuclei (ATN) are two adjacent brain nodes that support our ability to make decisions, learn, update information, form and retrieve memories, and find our way around. The MD and PFC work in partnerships to support cognitive processes linked to successful learning and decision-making, while the ATN and extended hippocampal system together coordinate the encoding and retrieval of memories and successful spatial navigation. Yet, while these distinctions may appear to be segregated, both the MD and ATN together support our higher cognitive functions as they regulate and are influenced by interconnected fronto-temporal neural networks and subcortical inputs. Our review focuses on recent studies in animal models and in humans. This evidence is re-shaping our understanding of the importance of MD and ATN cortico-thalamocortical pathways in influencing complex cognitive functions. Given the evidence from clinical settings and neuroscience research labs, the MD and ATN should be considered targets for effective treatments in neuropsychiatric diseases and disorders and neurodegeneration.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Brief Musculoskeletal Screen and Patient Education for Down Syndrome-Associated Arthritis

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REVISTA / JOURNAL:    - Glob Pediatr Health. 2021 Sep 7;8:2333794X211045562. doi: 10.1177/2333794X211045562. eCollection 20

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AUTORES / AUTHORS: - Jordan T Jones et al.

INSTITUCIÓN / INSTITUTION: - Children´s Mercy Kansas City, Kansas City, MO, USA. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Footprint measurement methods for the assessment and classification of foot types in subjects with Down syndrome: a systematic review

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REVISTA / JOURNAL:    - J Orthop Surg Res. 2021 Aug 27;16(1):537. doi: 10.1186/s13018-021-02667-0. Free PMC article

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AUTORES / AUTHORS: - Lourdes Gutiérrez-Vilahú, Myriam Guerra-Balic

INSTITUCIÓN / INSTITUTION: - Research group on Health, Physical Activity and Sport, Faculty of Psychology, Education and Sport Sciences-Blanquerna, University Ramon Llull, C/ Císter 34, 08022, Barcelona, Spain. 

RESUMEN / SUMMARY: - Background: Musculoskeletal disorders, especially in the feet, are common in people with Down syndrome (DS). Evaluation of podiatric footprints is important to prevent and manage orthopedic symptoms. The reliability of a wide variety of footprint measurement methods has been evaluated in healthy people, but few studies have considered the specific morphotype features of the feet in subjects with DS. The aim of this systematic review was to identify the podometric measurement tools used to typologically classify the footprints in the population with DS. Methods: The following electronic databases were searched for studies describing footprint measurement tools to assess and classify the foot types in patients with DS published from inception to December 2020: PubMed, Web of Science, CINAHL, and Scopus. Articles were initially searched by screening titles and abstracts. Potentially relevant studies were then further screened by reviewing full texts. Studies that met the inclusion criteria were included in the review. Results: Of the 122 articles identified by the search strategy, 14 full texts were retained to assess for eligibility, of which 11 studies met the inclusion criteria and were included. All the studies used footprint measurement methods to classify the foot types in subjects with DS, but only two studies assessed the reliability of those methods for the population with DS. The footprint measurement tools identified were a podoscope, a pressure-sensitive mat, a PressureStatTM carbon paper, and a 3D scanner. The Arch Index was the most common footprint measurement analyzed (seven studies). Two studies used the "gold standard" indexes that include Hernández-Corvo Index, Chippaux-Smirak Index, Staheli Index, and Clarke Angle to measure footprints. Conclusions: There is a need to determine the reliability and validity of the footprint measurement methods used for clinical classification of the foot types in subjects with DS. This can contribute to an earl

TÍTULO / TITLE:   - Being a parent of a child with Down´s arthritis: an interpretative phenomenological analysis

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REVISTA / JOURNAL:    - Disabil Rehabil. 2021 Sep 22;1-9. doi: 10.1080/09638288.2021.1979663. Online ahead of print

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AUTORES / AUTHORS: - Kelly McDonagh et al.

INSTITUCIÓN / INSTITUTION: - Centre for Pain Research, National University of Ireland, Galway, Ireland. 

RESUMEN / SUMMARY: - Purpose: To explore the parental impact and experiences of caring for a child with Down´s arthritis (DA), an aggressive, erosive form of arthritis affecting children with Down syndrome. Materials and methods: Ten mothers of children with DA were interviewed via telephone. Interviews were guided using a semi-structured non-directive topic guide and ranged from 17 to 242 minutes in duration. Interpretative phenomenological analysis was the method of analysis. Results: Three superordinate themes were identified: "Struggle for Help," "Mothers Know Best," and "Daily Impacts." Common challenges included issues around child pain, communication, and challenges in accessing diagnoses and relevant healthcare services. Parents portrayed a reality characterised by ongoing struggles, particularly parents of nonverbal children and those living further from paediatric rheumatology services. Connecting with other parents of children with DA provided a vital source of emotional and informational support. Conclusions: Findings provide novel insight into the experience of being mother of a child with DA, highlighting regional healthcare disparities, the need for upskilling of healthcare professionals, and for increased public awareness. Further research is needed to better understand the impact of DA on fathers and siblings. Findings can contribute to development and provision of supports to children with DA and their families.Implications for RehabilitationHealthcare professionals need to be upskilled in the treatment of, and communication with, children with Down syndrome with chronic illnesses and their families.A specialised stream of care for children with Down´s arthritis (DA) within paediatric rheumatology services may facilitate timely diagnosis and treatment and minimise risk of future complications.Formalised support services for children with DA and their families are needed to minimise emotional distress.

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 arti

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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 appear

TÍTULO / TITLE:   - Effects of Traditional Indian Dance on Motor Skills and Balance in Children with Down syndrome

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REVISTA / JOURNAL:    - J Mot Behav. 2021 Jul 8;1-10. doi: 10.1080/00222895.2021.1941736. Online ahead of print.

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AUTORES / AUTHORS: - Manasa Kolibylu Raghupathy et al

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

RESUMEN / SUMMARY: - The objective of the study was to examine the effects of traditional Indian dances like Bharatanatyam, Kuchipudi and Kathak on motor skills and balance in children with Down syndrome compared to neuromuscular training. In this randomised double-arm design, 36 children with Down syndrome aged 6-10 years and with a score of <5 in Beighton´s hypermobility test participated in either Indian classical dance (n = 18) or neuromuscular training (n = 18). Both the groups practised an hour-long session a day, three days a week for six weeks in six special-schools. Test of Gross Motor Development-2 (TGMD-2), Four Square Step Test (FSST) and paediatric balance scale were the outcome measures. After six weeks of training, there is a significant group difference of change score in the Gross Motor Quotient standard score of TGMD-2 [experimental: 30.47 vs. control: 11.1], locomotor subset of TGMD-2 [experimental: 11.1 vs. control: 4.35] and FSST [experimental: 4.29 vs. control: 2.41], but not in the paediatric balance scale [experimental: 3.59 vs. control: 3.76]. The traditional Indian dance substantially improved the locomotor skills of children with Down syndrome than that of neuromuscular exercises. Both the dance and neuromuscular training equally impacted the balance capacity.

TÍTULO / TITLE:   - Footprint measurement methods for the assessment and classification of foot types in subjects with Down syndrome: a systematic review

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REVISTA / JOURNAL:    - J Orthop Surg Res. 2021 Aug 27;16(1):537. doi: 10.1186/s13018-021-02667-0. Free PMC article

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AUTORES / AUTHORS: - Lourdes Gutiérrez-Vilahú, Myriam Guerra-Balic

INSTITUCIÓN / INSTITUTION: - Research group on Health, Physical Activity and Sport, Faculty of Psychology, Education and Sport Sciences-Blanquerna, University Ramon Llull, C/ Císter 34, 08022, Barcelona, Spain. 

RESUMEN / SUMMARY: - Background: Musculoskeletal disorders, especially in the feet, are common in people with Down syndrome (DS). Evaluation of podiatric footprints is important to prevent and manage orthopedic symptoms. The reliability of a wide variety of footprint measurement methods has been evaluated in healthy people, but few studies have considered the specific morphotype features of the feet in subjects with DS. The aim of this systematic review was to identify the podometric measurement tools used to typologically classify the footprints in the population with DS. Methods: The following electronic databases were searched for studies describing footprint measurement tools to assess and classify the foot types in patients with DS published from inception to December 2020: PubMed, Web of Science, CINAHL, and Scopus. Articles were initially searched by screening titles and abstracts. Potentially relevant studies were then further screened by reviewing full texts. Studies that met the inclusion criteria were included in the review. Results: Of the 122 articles identified by the search strategy, 14 full texts were retained to assess for eligibility, of which 11 studies met the inclusion criteria and were included. All the studies used footprint measurement methods to classify the foot types in subjects with DS, but only two studies assessed the reliability of those methods for the population with DS. The footprint measurement tools identified were a podoscope, a pressure-sensitive mat, a PressureStatTM carbon paper, and a 3D scanner. The Arch Index was the most common footprint measurement analyzed (seven studies). Two studies used the "gold standard" indexes that include Hernández-Corvo Index, Chippaux-Smirak Index, Staheli Index, and Clarke Angle to measure footprints. Conclusions: There is a need to determine the reliability and validity of the footprint measurement methods used for clinical classification of the foot types in subjects with DS. This can contribute to an earl

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.

TÍTULO / TITLE:   - Effects of Resistance Training in Muscle Mass and Markers of Muscle Damage in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2021 Aug 26;18(17): 8996. doi: 10.3390/ijerph18178996. Free PMC art

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AUTORES / AUTHORS: - Antonio J Diaz et al.

INSTITUCIÓN / INSTITUTION: - School of Nursing, University of Cadiz, 11003 Cadiz, Spain. 

RESUMEN / SUMMARY: - Recent studies have emphasized that regular exercise should be encouraged as a key part of care and support for people with Down syndrome (DS). However, muscle hypotonia has traditionally been considered a major barrier to resistance training (RT) in people with DS. The main objective of this study was to analyze the impact of circuit RT on markers of muscle damage. The secondary objective was to assess the influence of a RT program on body composition and work task performance. Thirty-six men with DS were recruited and randomly assigned to perform a circuit RT program with six stations 3 days/week for 12 weeks (n = 18) or to a control group (n = 18). Body composition was assessed by bioelectrical impedance analysis. Serum markers of muscle damage (creatine kinase, myoglobin, and lactate dehydrogenase) were determined at baseline and at the end of training weeks 1, 6, and 12. Work task performance was assessed using the weighted pail-carry test. RT did not induce significant changes in markers of muscle damage during the intervention. Furthermore, muscle mass and work task performance were significantly improved in the exercise group. These findings suggest that circuit RT can be used safely to increase muscle mass and work task performance in young adults with DS. Muscle hypotonia should not be considered a major barrier to exercise in people with DS, provided that qualified staff design and supervise all training sessions.

TÍTULO / TITLE:   - Relationship between trunk muscle strength, reaching ability and balance in children with Down syndrome - A cross-sectional study

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REVISTA / JOURNAL:    - Brain Dev. 2021 Sep 24;S0387-7604(21)00176-5. doi: 10.1016/j.braindev.2021.09.005. Online ahead of

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AUTORES / AUTHORS: - Preyal D Jain

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, India. 

RESUMEN / SUMMARY: - Background: Children with Down Syndrome (DS) present with neuromuscular disturbances leading to delayed developmental milestones, poor quality of movement and poor balance. The aim of this study is to discuss the role of trunk muscle strength in the functional performance of children with DS. Methodology: 28 children were recruited in the study, 14 with DS and 14 age and gender-matched controls. Trunk muscle strength, reaching ability and balance were assessed using a Handheld Dynamometer, Modified Functional Reach test and Pediatric Balance Scale, respectively. Results: Children with DS present with poorer trunk muscle strength, reaching ability and balance as compared to typically developing (TD) children. There was a positive correlation between trunk muscle strength and lateral reaching in children with DS. A strong to moderate correlation was observed between the trunk muscle strength and balance in children with DS. Discussion: Children with DS demonstrated a significantly weak trunk muscle groups. Lateral reaching distance is reduced due to the poor proximal control and they present with near-normal forward reach distance attributed to compensation using the lower trunk muscles. They exhibit poor balance in the components that require a small base of support. Conclusion: Children with DS exhibit weak trunk muscles along with lesser reaching distance and poor balance. Also, trunk muscle strength influences lateral reaching ability. Trunk muscle strength, mainly trunk extensors impacted functional balance in sitting, standing and while performing transfers.

TÍTULO / TITLE:   - Physiotherapy management of Down syndrome

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REVISTA / JOURNAL:    - J Physiother. 2021 Oct;67(4):243-251. doi: 10.1016/j.jphys.2021.08.016. Epub 2021 Sep 10. Free arti

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AUTORES / AUTHORS: - Nora Shields 

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Podiatry and Prosthetics and Orthotics, La Trobe University, Melbourne, Australia. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - The Effects of Different Exteroceptive Experiences on the Early Motor Repertoire in Infants With Down Syndrome

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REVISTA / JOURNAL:    - Phys Ther. 2021 Sep 1;101(9):pzab163. doi: 10.1093/ptj/pzab163.

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AUTORES / AUTHORS: - Bilge Nur Yardımcı-Lokmanoğlu et al.

INSTITUCIÓN / INSTITUTION: - Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Developmental and Early Physiotherapy Unit, Ankara, Turkey. 

RESUMEN / SUMMARY: - Objective: Down syndrome is a chromosomal abnormality in which muscle tone, motor development, and sensory systems are affected. The objectives of this study were to examine the changes in movements and postures of 3- to 5-month-old infants with Down syndrome and infants who were neurotypical controls during exposure to a rough-textured surface and to compare the differences occurring before and during an exteroceptive condition that was different between the 2 groups. Methods: In this quasi-experimental study, participants were 20 infants with Down syndrome (8 female infants; age range = 10-18 weeks, mean [SD] = 12 weeks 2 days [2 weeks 2 days]) and 20 age-matched infants with typical development (8 female infants; age range = 9-17 weeks, mean (SD) = 12 weeks 6 days [1 week 5 days]). The movements and postures of the infants, including fidgety movements, were assessed according to the General Movements Assessment, which determines the Motor Optimality Score (MOS), on 2 surfaces. Results: The MOS outcomes of the infants with Down syndrome (median = 21.5, range = 6-28) were significantly lower than those of the infants who were neurotypical (median = 28, range = 23-28) on a standard mattress. The postures were found to be significantly better in infants with Down syndrome during exposure to a rough-textured surface. The MOS did not change due to the different exteroceptive experiences in infants with Down syndrome and infants who were neurotypical. Conclusion: The different exteroceptive experiences caused only postural alterations, which might play a crucial role in early intervention programs for infants with Down syndrome.

TÍTULO / TITLE:   - Current Trends in Pediatric Physical Therapy Practice for Children With Down Syndrome

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REVISTA / JOURNAL:    - Pediatr Phys Ther. 2021 Apr 1;33(2):74-81. doi: 10.1097/PEP.0000000000000781.

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AUTORES / AUTHORS: - Rebekah Johnson et al.

INSTITUCIÓN / INSTITUTION: - School of Physical Therapy (Ms Johnson and Dr Looper), University of Puget Sound, Tacoma, Washington; School of Physical Therapy (Dr Fiss), Texas Woman´s University, Dallas, Texas. 

RESUMEN / SUMMARY: - Background: Physical therapists (PTs) have a broad range of approaches to the management of Down syndrome (DS). Purpose: To examine the breadth of physical therapy practice for children with DS. Methods: A survey was distributed to 1000 randomly selected members of the Academy of Pediatric Physical Therapy. Data analysis: Responses were categorized into 13 thematic subcategories and 3 International Classification of Functioning, Disability and Health (ICF) subcategories. Results and discussion: One hundred eight PTs participated. Joint stability and alignment were the most common physical therapy-related problem. Functional movement was the most common physical therapy intervention. Most clinicians identified and treated at the ICF level of body functions and structure. Multiple assessment tools were used and tended to include norm-referenced tests. There was diversity of interventions with varying amounts of supporting evidence. Conclusions: PTs manage children with DS for a wide variety of needs with a variety of interventions.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Termination of pregnancy following a Down Syndrome diagnosis: decision-making process and influential factors in a Muslim but secular country, Turkey

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REVISTA / JOURNAL:    - J Perinat Med. 2020 Sep 14;49(2):170-177. doi: 10.1515/jpm-2020-0147. Print 2021 Feb 23.

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AUTORES / AUTHORS: - Duygu Adiyaman et al

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Division of Perinatology, Tepecik Training and Research Hospital, Izmir, Turkey. 

RESUMEN / SUMMARY: - Objectives: This study aims to present the termination of pregnancy (TOP) rates and elucidate the decision-making process following a prenatal diagnosis of Trisomy 21 in Turkey. Methods: This retrospective single-center study was conducted with 146 pregnant women between January 2016 and December 2019 in a tertiary hospital. Data on maternal characteristics, sonographic findings, indications for chromosome analysis, and educational, religious, and economic factors that can influence the parental decision process were collected. Results: The TOP rate of Down syndrome (DS) in our center was 78.8%. We concluded that maternal age, earlier diagnosis, indication for chromosome analysis, and previous pregnancies had no effect on the TOP decision. On the other hand, not having a minor or a major sonographic sign, employed mothers, middle- and high-income families, and families having a secondary or higher education tended to terminate the pregnancy affected by DS at statistically higher rates. Conclusions: There are many studies worldwide investigating the TOP preferences for DS. However, there is limited data about TOP rates and influential factors affecting the decision-making process in Muslim countries. This study contributes by clarifying the factors in the decision-making process and elucidating perspectives about TOP in a Muslim country with a unique status: Turkey.

TÍTULO / TITLE:   - Ethnicity-Specific Normative Models of Quadruple Test as a Screening Test for Down Syndrome

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REVISTA / JOURNAL:    - Medicina (Kaunas). 2021 Jun 24;57(7):651. doi: 10.3390/medicina57070651. Free PMC article

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AUTORES / AUTHORS: - Praetip Praikaew et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand. 

RESUMEN / SUMMARY: - Background and Objectives: To establish normative models for median levels of serum biomarkers of the second trimester quad test (alpha-fetoprotein: AFP; free beta-human gonadotropins: hCG; inhibin-A; and unconjugated estriol: uE3) specific to Thai women and to compare multiples of the median (MoMs) derived from ethnicity-specific models and those derived from Caucasian models with ethnic correction. Materials and Methods: A cross-sectional study was undertaken in a tertiary, medical teaching center among low-risk pregnant Thai women between 14 and 21 weeks of gestation to measure the levels of the four serum biomarkers. The measured values of each biomarker were analyzed using the multivariable factorial polynomial technique for quantile regression as a function of gestational age and maternal weight. Results: The Thai-specific normative models for the four biomarkers were generated and available for use. The MoMs of all individuals generated from our models were significantly different from conventional (Caucasian) models with ethnic correction (Wilcoxon signed-rank test; p < 0.0001 for all biomarkers). The MoMs of AFP and hCG from both methods were in agreement, but those from Thai-specific models were significantly higher. However, those of inhibin-A and uE3 were markedly different and ethnic correction was unlikely to be useful. Conclusions: The Thai-specific normative models of the quad test as a function of gestational age and maternal weight were constructed using multivariable factorial polynomial models, better than simple quantile regression or log-linear regression used in earlier decades. The analysis of MoMs supports the use of ethnicity-specific models instead of Caucasian models with ethnic correction.

TÍTULO / TITLE:   - Does women´s place of birth affect their opportunity for an informed choice about Down syndrome screening? A population-based study in France

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REVISTA / JOURNAL:    - BMC Pregnancy Childbirth. 2021 Aug 30;21(1):590. doi: 10.1186/s12884-021-04041-8. Free PMC article

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AUTORES / AUTHORS: - Olivia Anselem et al.

INSTITUCIÓN / INSTITUTION: - Maternité Port-Royal, APHP.Centre-Université de Paris, FHU PREMA, 123 boulevard de Port-Royal, 75014, Paris, France. 

RESUMEN / SUMMARY: - Background: To examine disparities by maternal place of birth in the opportunity to make an informed choice about Down syndrome screening, in France, where the national guidelines recommend that physicians offer it to all pregnant women. Methods: We used population-based data from the nationally representative French Perinatal Surveys in 2010 and 2016 (N=24,644 women) to analyze the opportunity for an informed choice for prenatal screening, measured by a composite indicator. Results: Among the 24 644 women in the study, 20 612 (83.6%) were born in France, 861 (3.5%) elsewhere in Europe, 1550 (6.3%) in North Africa, and 960 (3.9%) in sub-Saharan Africa. The probability of screening was lower for women born outside France. After adjustment for survey year, maternal age, parity, education level, and the maternity unit´s level of perinatal care, women born outside France had the opportunity to make an informed choice less often than women born in France. This association remained essentially the same even after excluding women without adequate prenatal care. Conclusions: Women born outside France, including those with adequate prenatal care, had less opportunity than women born in France to make an informed choice about prenatal screening for Down syndrome.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Behavioral Activation (BA) in the Management of Depression in an Adolescent with Down Syndrome in Dubai

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REVISTA / JOURNAL:    - Case Rep Psychiatry. 2021 Sep 18;2021:7112034. doi: 10.1155/2021/7112034. eCollection 2021. Free PM

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AUTORES / AUTHORS: - Sidra Shadan et al

INSTITUCIÓN / INSTITUTION: - College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE. 

RESUMEN / SUMMARY: - Depression has been commonly treated with psychotherapy and/or pharmacotherapy for several decades. Ongoing research in the field has suggested promise for behavioral activation (BA), a form of psychotherapeutic intervention, as a means of increasing engagement in adaptive activities and developing skills to counter avoidance in individuals suffering from depression. In this case report, we present the treatment course of BA for an adolescent with Down syndrome (DS), presenting with depression. A multidisciplinary approach was utilized in developing a personalized management plan for the patient since the initial presentation. Sessions at the outpatient psychiatry clinic alternated between in-person visits and virtual ones, due to circumstances associated with physical distancing with the COVID-19 pandemic. Parents were included as integral parts of the management plan, and education, strategic implementation of BA, and barriers to care were discussed extensively to support the adolescent through the course of her treatment. Within 6 weeks of introducing BA, positive outcomes were noted in the patient, with the resolution of her clinical depression. In this report, we discuss BA further as a potentially effective therapeutic approach to the treatment of depressive symptoms in children and adolescents with DS and intellectual disabilities.

TÍTULO / TITLE:   - Executive Functioning in Adults with Down Syndrome: Machine-Learning-Based Prediction of Inhibitory Capacity

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2021 Oct 14;18(20):10785. doi: 10.3390/ijerph182010785. Free PMC ar

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AUTORES / AUTHORS: - Mario Fernando Jojoa-Acosta et al

INSTITUCIÓN / INSTITUTION: - eVIDA-Lab, Faculty of Engineering, Deusto University, 48007 Bilbao, Spain. Faculty of Psychology, Education and Sports Sciences Blanquerna, Ramon Llull University, 08022 Barcelona, Spain. 

RESUMEN / SUMMARY: - The study of executive function decline in adults with Down syndrome (DS) is important, because it supports independent functioning in real-world settings. Inhibitory control is posited to be essential for self-regulation and adaptation to daily life activities. However, cognitive domains that most predict the capacity for inhibition in adults with DS have not been identified. The aim of this study was to identify cognitive domains that predict the capacity for inhibition, using novel data-driven techniques in a sample of adults with DS (n = 188; 49.47% men; 33.6 ± 8.8 years old), with low and moderate levels of intellectual disability. Neuropsychological tests, including assessment of memory, attention, language, executive functions, and praxis, were submitted to Random Forest, support vector machine, and logistic regression algorithms for the purpose of predicting inhibition capacity, assessed with the Cats-and-Dogs test. Convergent results from the three algorithms show that the best predictors for inhibition capacity were constructive praxis, verbal memory, immediate memory, planning, and written verbal comprehension. These results suggest the minimum set of neuropsychological assessments and potential intervention targets for individuals with DS and ID, which may optimize potential for independent living.

TÍTULO / TITLE:   - The Surplus Effect in Adaptive Behaviour in Down Syndrome: What Can Promote It?

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REVISTA / JOURNAL:    - Brain Sci. 2021 Sep 10;11(9):1188. doi: 10.3390/brainsci11091188. Free PMC article

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AUTORES / AUTHORS: - Anastasia Dressler et al.

INSTITUCIÓN / INSTITUTION: - Division of Neonatology, Paediatric Intensive Care and Neuropaediatrics, Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria. 

RESUMEN / SUMMARY: - Background: In Down syndrome (DS), adaptive behaviour often shows a "surplus effect" (i.e., higher adaptive abilities than expected from cognitive skills). As inclusive schooling has become mandatory in Italy, we studied the impact of school inclusion on the surplus effect of adaptive behaviour in adult DS, considering potential confounding factors such as parental education. Methods: All consecutive DS individuals from three different sites were queried prospectively regarding type of schooling (inclusive and non-inclusive). Demographic data were documented; cognitive abilities and adaptive behaviour were assessed (Coloured Progressive Matrices and Vineland Adaptive Behaviour Scales). The aim was to establish the presence of a surplus effect in adaptive behaviour, primarily in the overall level and secondarily in the main domains and subdomains. A multivariable-adjusted logistic regression model was used for the association of schooling, and parental education. Results: The majority (65%) showed a surplus effect in adaptive behaviour and had attended inclusive schools (85%). Higher adaptive skills as well as early and longer functional treatment programmes were more readily available for younger individuals. In the group of inclusive schooling, the surplus effect on overall adaptive behaviour was present in 70% as opposed to 38% in the group without inclusive schooling, significant when adjusted for gender and maternal education. This was also observed in socialisation, written, and community, and after adjustment in playing and leisure time. Conclusions: Adaptive behaviour showed a surplus effect in the majority of DS adults, even more so after inclusive schooling. Younger adults showed higher adaptive skills. Moreover, female gender and higher maternal educational level significantly enhanced this surplus effect.

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-López 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:   - Exploring different aspects of emotion understanding in adults with Down Syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2021 Jul;114:103962. doi: 10.1016/j.ridd.2021.103962. Epub 2021 Apr 28.

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AUTORES / AUTHORS: - Clara Andrés-Roqueta et al

INSTITUCIÓN / INSTITUTION: - Department of Developmental, Educational and Social Psychology and Methodology, Universitat Jaume I de Castelló, Av. Vicent Sos Baynat, s/n, 12071 Castelló de la Plana, Spain. 

RESUMEN / SUMMARY: - Background: Adults with Down Syndrome (DS) present difficulties in emotion understanding, although research has mainly focused on emotion recognition (external aspects), and little is known about their performance in other complex components (mental and reflective aspects). Aims: This study aims to examine different aspects of emotion understanding in adults with DS, including a codification of their error pattern, and also to determine the association with other variables that are commonly impaired in adults with DS. Methods and procedures: Twenty-two adults with DS and twenty-two children with typical development (TD) matched for vocabulary level were assessed with the Test of Emotion Comprehension (TEC), along with other non-verbal reasoning (NVR), structural language and working memory (WM) tasks. Outcomes and results: Adults with DS showed lower emotion competence than children with TD in different components of the TEC, and also a different pattern of errors was observed. Structural language, NVR and WM predicted distinct emotion understanding skills in different ways. Conclusions and implications: It is important to plan interventions aimed at improving particular aspects of emotion understanding skills for adults with DS, taking into account the different components, the type of error and the different cognitive and linguistic skills involved in each emotion understanding skill.

TÍTULO / TITLE:   - Inhibitory Abilities in Individuals with Down Syndrome: Investigation of Interference Suppression Using an Adapted Version of Navon Task

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REVISTA / JOURNAL:    - Dev Neuropsychol. 2021 Sep 29;1-12. doi: 10.1080/87565641.2021.1985121. Online ahead of print.

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AUTORES / AUTHORS: - Martina Fontana et al.

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

RESUMEN / SUMMARY: - Only a few studies have investigated inhibitory sub-components in individuals with Down syndrome (DS). This study investigates interference suppression, through global-local processes, in 50 people with DS matched for mental age (MA) with 63 typically developing children (MA = 23.6 and 6.8 years respectively). We adapted and administered a non-verbal Navon-shape task with high-familiarity symbols. For both groups, results showed equal performance on global vs. local items in the congruent condition, whereas significantly better performance on global conditions when faced with incongruent items. A greater impairment in incongruent responses emerged for both groups and more so for individuals with DS.

TÍTULO / TITLE:   - Inhibitory Dimensions and Delay of Gratification: A Comparative Study on Individuals with Down Syndrome and Typically Developing Children

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REVISTA / JOURNAL:    - Brain Sci. 2021 May 14;11(5):636. doi: 10.3390/brainsci11050636. Free PMC article

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AUTORES / AUTHORS: - Martina Fontana et al.

INSTITUCIÓN / INSTITUTION: - Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. 

RESUMEN / SUMMARY: - While previous research on inhibition in people with Down syndrome (DS) reported contradictory results, with no explicit theoretical model, on the other hand, a more homogeneous impaired profile on the delay of gratification skills emerged. The main goal of the present study was to investigate response inhibition, interference suppression, and delay of gratification in 51 individuals with DS matched for a measure of mental age (MA) with 71 typically developing (TD) children. Moreover, we cross-sectionally explored the strengths and weaknesses of these components in children and adolescents vs. adults with DS with the same MA. A battery of laboratory tasks tapping on inhibitory sub-components and delay of gratification was administrated. Results indicated that individuals with DS showed an overall worse performance compared to TD children on response inhibition and delay of gratification, while no differences emerged between the two samples on the interference suppression. Additionally, our results suggested that older individuals with DS outperformed the younger ones both in response inhibition and in the delay of gratification, whereas the interference suppression still remains impaired in adulthood. This study highlights the importance of evaluating inhibitory sub-components considering both MA and chronological age in order to promote more effective and evidence-based training for this population.

TÍTULO / TITLE:   - Expressed Emotion in Families of Children With and Without Autism Spectrum Disorder, Cerebral Palsy and Down Syndrome: Relations with Parenting Stress and Parenting Behaviors

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2021 May 22. doi: 10.1007/s10803-021-05075-9. Online ahead of print.

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AUTORES / AUTHORS: - Lana E De Clercq et al

INSTITUCIÓN / INSTITUTION: - Department of Special Needs Education, Ghent University, Henri Dunantlaan 1, 9000, Ghent, Belgium.  

RESUMEN / SUMMARY: - This study examined the family emotional climate as assessed by Five Minute Speech Samples and the relation with parenting stress and parenting behaviors among parents of children (6-17 years, 64.7% boys) with autism spectrum disorder, cerebral palsy, Down syndrome, and without any known disability (n = 447). The large majority of parents (79%) showed low levels of Expressed Emotion, an indicator of a positive family climate. In all groups, more Emotional Over-involvement, more Criticism and fewer expressions of Warmth were associated with higher levels of parenting stress. Across groups, Emotional Over-involvement was related to more autonomy-supportive parenting, Criticism to more psychologically controlling and overreactive parenting, and Warmth was associated with more responsive and less psychologically controlling and overreactive parenting.

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: - Stéphanie Vanwalleghem et al.

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:   - Executive functions and adaptive behaviour in individuals with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2021 Nov 9. doi: 10.1111/jir.12897. Online ahead of print.

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AUTORES / AUTHORS: - S Onnivello et al.

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

RESUMEN / SUMMARY: - Background: Previous research has explored executive functions (EFs) and adaptive behaviour in children and adolescents with Down syndrome (DS), but there is a paucity of research on the relationship between the two in this population. This study aims to shed light on the profile of EFs and adaptive behaviour in DS, exploring the differences by age and investigating the relationship between these two domains. Method: Parents/caregivers of 100 individuals with DS from 3 to 16 years old participated in the study. The sample was divided into preschoolers (3-6.11 years old) and school-age children (7-16 years old). Parents/caregivers completed either the Preschool Version of the Behaviour Rating Inventory of Executive Function (for children 2-6.11 years old) or the Second Edition of the same Inventory (for individuals 7 + years old). Adaptive behaviour was assessed with the Vineland Adaptive Behaviour Scale - Interview, Second Edition. Results: Findings suggest that individuals with DS have overall difficulties, but also patterns of strength and weakness in their EFs and adaptive behaviour. The preschool-age and school-age children´s EF profiles differed slightly. While both age groups showed Emotional Control as a relative strength and Working Memory as a weakness, the school-age group revealed further weaknesses in Shift and Plan/Organise. As concerns adaptive behaviour, the profiles were similar in the two age groups, with Socialisation as a strength, and Communication and Daily Living Skills as weaknesses, but with a tendency for preschoolers to obtain intermediate scores for the latter. When the relationship between EFs and adaptive behaviour was explored, Working Memory predicted Communication in the younger group, while in the older group the predictors varied, depending on the adaptive domains: Working Memory was a predictor of Communication, Inhibit of Daily Living Skills, and Inhibit and Shift of Socialisation. Conclusion: As well as elucidating the EF pr

TÍTULO / TITLE:   - Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2021 Sep 26;11(10):1278. doi: 10.3390/brainsci11101278. Free PMC article

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AUTORES / AUTHORS: - Amanda Dimachkie Nunnally et al.

INSTITUCIÓN / INSTITUTION: - MIND Institute, University of California Davis Health, 2825 50th Street, Sacramento, CA 95816, USA. 

RESUMEN / SUMMARY: - There is a growing body of evidence to suggest that individuals with Down syndrome (DS) are diagnosed with autism spectrum disorders (ASD) at a higher rate than individuals in the general population. Nonetheless, little is known regarding the unique presentation of ASD symptoms in DS. The current study aims to explore the prevalence and profiles of ASD symptoms in a sample of individuals with DS (n = 83), aged between 6 and 23 years. Analysis of this sample (MAge = 15.13) revealed that approximately 37% of the sample met the classification cut-off for ASD using the Autism Diagnostic Observation Schedule 2 (ADOS-2) Calibrated Severity Score (CSS), an indicator of the participants´ severity of ASD-related symptoms. Item-level analyses revealed that multiple items on Module 2 and Module 3 of the ADOS-2, mostly in the Social Affect (SA) subdomain, differentiated the children with DS who did not meet ASD classification (DS-only) from those who did (DS + ASD). Lastly, comparisons of individuals with DS-only and those with DS + ASD differed significantly on the syntactic complexity of their expressive language. These findings shed light on the unique presentation of ASD symptoms in a sample of individuals with DS and suggest that expressive language abilities may play a pivotal role in the presentation of ASD symptoms in DS.

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 et al.

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:   - Symptoms of Autism, Comorbid Mental Health Conditions and Challenging Behaviors among Toddlers with Down Syndrome at Low Risk for ASD-Characterization Using the BISCUIT-Parts 1-3

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2021 Oct 12;18(20):10684. Free PMC article doi: 10.3390/ijerph18201

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AUTORES / AUTHORS: - Ewa Pisula, Alicja Niedźwiecka

INSTITUCIÓN / INSTITUTION: - Department of Health and Rehabilitation Psychology, Faculty of Psychology, University of Warsaw, 00-183 Warsaw, Poland. 

RESUMEN / SUMMARY: - Background: Autism spectrum disorder (ASD) may coexist with Down syndrome (DS). Most studies on this topic involve school-age children, adolescents, or adults with DS. This study looked at ASD symptoms, other mental health problems, and challenging behaviors in toddlers with DS at low risk of ASD. Methods: We used screening tools for autism in toddlers; BISCUIT-Parts 1-3 and Q-CHAT. We compared four groups of children aged 17-37 months: DS, ASD, Atypical Development (AD), and Typically Developing (TD). Results: Children with DS showed lower symptoms of ASD than children with ASD (without DS) and higher than TD children, except for repetitive behaviors/restricted interests. For comorbid mental health problems and difficult behaviors, children with DS scored lower than children with ASD. There were no differences between children with DS and TD children in this regard. Conclusions: The study results indicate that BISCUIT-Parts 1-3 are valid instruments to differentiate toddlers with DS from toddlers with ASD. However, they also show that toddlers with DS at low ASD risk are a very heterogeneous group when the ASD symptoms are considered. Autistic characteristics should be taken into account in supporting young children with this genetic condition.

TÍTULO / TITLE:   - The role of distinct executive functions on adaptive behavior in children and adolescents with Down syndrome

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REVISTA / JOURNAL:    - Child Neuropsychol. 2021 Nov;27(8):1054-1072. doi: 10.1080/09297049.2021.1917531. Epub 2021 May 2.

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AUTORES / AUTHORS: - Elizabeth A Will et al

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of South Carolina, Columbia, SC, USA. 

RESUMEN / SUMMARY: - Difficulties in executive function are a relatively well-characterized feature of the neuropsychological profile in Down syndrome (DS), yet the impact of these challenges on aspects of daily functioning remain poorly understood. We examined the role of specific executive functions on domains of adaptive behavior in children and adolescents with DS. Participants included 68 children and adolescents with DS between 6-17 years old (mean chronological age = 12.56 years; SD = 3.22) and their caregivers. Parent reported executive function skills were measured using the BRIEF-2 and adaptive behavior was measured using the Vineland Adaptive Behavior Scales-III. Results identified working memory as a significant predictor of Communication, Daily Living, and Socialization skills, and Shifting significantly predicted Daily Living and Socialization. Findings demonstrate the relation between executive functions and adaptive behavior and highlight the effects of working memory on aspects of daily functioning for individuals with DS.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Health promotion in adults with Down´s syndrome: Experiences of caregivers

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REVISTA / JOURNAL:    - J Intellect Disabil 2021 Sep;25(3):312-330. doi: 10.1177/1744629519890956. Epub 2019 Nov 28.

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AUTORES / AUTHORS: - Claire Borthwick et al

INSTITUCIÓN / INSTITUTION: - 2294The State Hospitals Board for Scotland, Scotland. 

RESUMEN / SUMMARY: - Individuals with Down´s syndrome rely on caregivers to support lifestyle behaviour change. It is therefore important to understand how caregivers put health recommendations into practice. Through conducting semi-structured interviews, the present study sought to understand the facilitators and barriers that caregivers faced when implementing health promotion advice. Five interviews were conducted with paid support staff and four with family carers of individuals attending a specialist multidisciplinary Down´s syndrome health promotion screening clinic. Three main themes emerged in their accounts, including active promotion of weight management by caregivers, benefits of working practices such as record keeping and communication channels and the importance of having access to social care services and recreational activities. These findings have important implications for professionals working in specialised healthcare settings who may be able to tailor communication and services to better meet the needs of individuals with Down´s syndrome and their caregivers.

TÍTULO / TITLE:   - Parental Age in Relation to Offspring´s Neurodevelopment

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REVISTA / JOURNAL:    - J Clin Child Adolesc Psychol. Sep-Oct 2021;50(5):632-644. doi: 10.1080/15374416.2020.1756298. Epub 2

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AUTORES / AUTHORS: - S A M Veldkamp et al

INSTITUCIÓN / INSTITUTION: - Department of Biological Psychology, Vrije Universiteit Amsterdam. 

RESUMEN / SUMMARY: - Objective: Advanced parenthood increases the risk of severe neurodevelopmental disorders like autism, Down syndrome and schizophrenia. Does advanced parenthood also negatively impact offspring´s general neurodevelopment? Method: We analyzed child-, father-, mother- and teacher-rated attention-problems (N = 38,024), and standardized measures of intelligence (N = 10,273) and educational achievement (N = 17,522) of children from four Dutch population-based cohorts. The mean age over cohorts varied from 9.73-13.03. Most participants were of Dutch origin, ranging from 58.7%-96.7% over cohorts. We analyzed 50% of the data to generate hypotheses and the other 50% to evaluate support for these hypotheses. We aggregated the results over cohorts with Bayesian research synthesis. Results: We mostly found negative linear relations between parental age and attention-problems, meaning that offspring of younger parents tended to have more attention problems. Maternal age was positively and linearly related to offspring´s IQ and educational achievement. Paternal age showed an attenuating positive relation with educational achievement and an inverted U-shape relation with IQ, with offspring of younger and older fathers at a disadvantage. Only the associations with maternal age remained after including SES. The inclusion of child gender in the model did not affect the relation between parental age and the study outcomes. Conclusions: Effects were small but significant, with better outcomes for children born to older parents. Older parents tended to be of higher SES. Indeed, the positive relation between parental age and offspring neurodevelopmental outcomes was partly confounded by SES.

TÍTULO / TITLE:   - Late start of early intervention in children with Down syndrome

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REVISTA / JOURNAL:    - Andes Pediatr. 2021 Jun;92(3):411-419. doi: 10.32641/andespediatr.v92i3.3449. [Article in English,

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AUTORES / AUTHORS: - Danys Fredes et al.

INSTITUCIÓN / INSTITUTION: - Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 

RESUMEN / SUMMARY: - Introduction: Early intervention (EI) is key in the lives of children with Down syndrome (CHwDS). Starting it befo re 60 days of life (DOL) has better results in future development. Objective: To assess the factors that delay the beginning of EI in CHwDS. Subjects and method: Parents of CHwDS who attended EI pro grams during their first year of life participated. Social, family, and health factors that could influence the time of initiation of EI were evaluated and compared according to the start of EI (before vs after 60DOL). For the analysis of categorical variables, Fisher´s exact test was used and for the association between the numerical ones, the Student T-test for independent samples. Results: 125 questionnaires were analyzed. 51.2% started EI after 6ODOL, and of them, 25% started after 6 months of age. Late initiation of EI was associated with hospitalization before 3 months of age (OR = 2.5), long hospital stays (OR = 2.4), lower educational level of the father (OR = 4.7) and of the mother (OR = 3.4), birth in the public health system (OR = 11.8), and access to free EI centers (OR = 2.4). The high socioe conomic level was the only protective factor (OR = 0.4) for early initiation. Conclusions: More than 50% of CHwDS begin EI programs late. This was associated with early hospitalization, prolonged hospital stays, and socioeconomic status. It is urgent to allocate resources and generate public policies that allow guaranteed access to EI programs.

TÍTULO / TITLE:   - Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study

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REVISTA / JOURNAL:    - Eur J Med Genet. 2021 Oct;64(10):104290. doi: 10.1016/j.ejmg.2021.104290. Epub 2021 Jul 15.

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AUTORES / AUTHORS: - Pierre-Henri Roux-Levy et al

INSTITUCIÓN / INSTITUTION: - Equipe GAD, INSERM U1231, University of Burgundy and Franche Comté, Dijon, France; Department of General Medicine, University of Burgundy and Franche Comté, Dijon, France. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixty-six per cent had a moderate intellectual disability (ID) and 18.9% had a severe ID. Medical supervision was generally multidisciplinary but access to medical specialists was often difficult. In terms of education, 94% of children under the age of six were in typical classes. After the age of 15, 75% were in medico-social institutions. Analysis of multidisciplinary rehabilitation conducted in the public and private sectors revealed failure to access physiotherapy, psychomotor therapy and occupational therapy, but not speech therapy. The main barrier encountered by patients was the difficulty accessing appropriate facilities due to a lack of space and long waiting lists. In conclusion, children and adolescents with DS generally received appropriate care. Though the management of children with DS has been improved considerably, access to health facilities remains inadequate.

TÍTULO / TITLE:   - Conclusions and implications for early intervention

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REVISTA / JOURNAL:    - Adv Child Dev Behav. 2021;60:317-327. doi: 10.1016/bs.acdb.2020.10.001. Epub 2021 Jan 11.

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AUTORES / AUTHORS: - Regina T Harbourne

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, John G. Rangos School of Health Sciences, Duquesne University, Pittsburgh, PA, United States. 

RESUMEN / SUMMARY: - Each chapter in this volume supports the assumption that the quantity and quality of sleep is an essential building block for the architecture of learning in early life. Diverse areas affected by sleep include language, motor skills, problem solving, and memory, which show greater improvements when adequate and healthy sleep pervades a child´s routine. Studies described in this volume expand our understanding of the impact of sleep both for short term skill improvement and for long-term developmental gains. The interdisciplinary content of this volume brings practical and translational information regarding sleep and learning in young children, including those with special challenges, such as children with Down syndrome, Williams syndrome, attention deficits, or cerebral palsy. In this concluding chapter, key knowledge gaps will be described with an eye toward areas of study that could further build strategies that support early learning and suggest attention to the role of sleep to enhance the effects of early intervention for children with developmental challenges.

TÍTULO / TITLE:   - Support needs, coping, and stress among parents and caregivers of people with Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2021 Dec;119:104113. doi: 10.1016/j.ridd.2021.104113. Epub 2021 Oct 19.

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AUTORES / AUTHORS: - Esther Yejin Lee et al

INSTITUCIÓN / INSTITUTION: - Faculty of Education, Western University, 1137 Western Road, London, ON, N6G 1G7, Canada. 

RESUMEN / SUMMARY: - Background: Caregiving for an individual with Down syndrome (DS) results in needs that can impact the stress and wellbeing of the entire family. These needs may also vary over the lifespan of the individual with DS. Coping strategies may affect stress levels and reduce the effects of unmet needs. Aims: (1) Do important unmet needs (IUNs), coping, and stress vary between parents and caregivers of adults compared to children with DS? (2) What is the relationship between stress, coping, and needs for parents and caregivers of people with DS? Methods: 152 parents and caregivers of people with DS of various age groups completed an online survey including: demographic information, Family Needs Survey - Revised, Questionnaire on Resources and Stress - Friedrich Version, and the Family Crisis Oriented Personal Scales. Comparisons of IUNs, coping and stress between caregivers of adults and caregivers of children with DS were conducted. Relationships between stress, coping, and needs were explored using correlations and multiple regression. Results: IUNs were greater for parents and caregivers of children than for parents and caregivers of adults. Stress level was positively correlated with the number of IUNs, and great use of coping strategies were associated with less stress and fewer IUNs. The coping styles that predicted stress were different for caregivers of children versus adults. Conclusion: The results of this research highlight the importance of considering age in relation to needs and stress among families with a child with DS. Fostering effective coping strategies, including acquiring social support, is likely to support positive outcomes for caregivers of people with DS.

TÍTULO / TITLE:   - Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements

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REVISTA / JOURNAL:    - Front Nutr 2021 Sep 8;8:641112. doi: 10.3389/fnut.2021.641112. eCollection 2021. Free PMC article

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AUTORES / AUTHORS: - Giulia Roccatello et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Introduction: Children with Down Syndrome (DS) have nutritional problems with unknown implications besides increased potential for obesity. Their food habits are unknown. We aim to delineate eating and lifestyle habits of DS children attending a multispecialist program to identify the challenges they face and the potential improvements. Patients and Methods: We interacted with 34 DS children (22 males, 12 females, 2-16 years old) and their families. Food habits, medical conditions and treatments, degrees of development and physical activity, anthropometric and laboratory data were recorded over 6 months and analyzed. A 3-day food diary and a 24-h recall food frequency questionnaire were administered. Results: Twenty-nine (85%) children completed meals, only 11 (32%) received alternative food such as milk. Weaning regularly started in 25 (73%) children. Preschool children introduced adequate calories and nutrients. School children and adolescents did not reach recommendations. All age groups, as the general pediatric population, excessively ate protein and saturated fat, and preferred bread, pasta, fruit juices, meat and cold cuts. Peculiarly, pulses and fish were adequately assumed by preschool and school children, respectively. Five children (15%) were overweight/obese. Conclusions: Dietary excesses commonly found in the general pediatric population are also present in this DS group, proving a narrowing gap between the two. DS group performed better nutritionally in the early years and overweight/obesity occurrence seems contained. DS children may benefit from a practical yet professional care-program in which nutrition education may improve their growth, development and transition into adulthood.

TÍTULO / TITLE:   - The Impact of Childhood Disease on Hospital Visiting: A Survey of Pediatricians

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REVISTA / JOURNAL:    - J Nippon Med Sch. 2021 Sep 14. doi: 10.1272/jnms.JNMS.2022_89-214. Online ahead of print. Free arti

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AUTORES / AUTHORS: - Hanako Tajima et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Nippon Medical School Musashi-Kosugi Hospital. 

RESUMEN / SUMMARY: - Background: The precise timing as to when caregivers should take their children to the hospital is crucial to ensure the health and safety of children. As children cannot make these decisions on their own, caregivers bear the core responsibility for the wellness of their children. The aim of this study was to determine how disease, disabilities and child behavior can influence when and how often caregivers take their children to the hospital. Methods: A structured anonymous online survey was circulated to pediatricians in Japan. Pediatricians were queried about the patients´ dispositions including their reactivity to pain, expression of pain, behavior at the hospital, and the timing of the visit. Patients were school-aged children and included those with autism spectrum disorder, attention-deficit hyperactivity disorder, Down syndrome, mental retardation, epilepsy, premature birth or allergies. Results: Sixty-eight out of the 80 pediatricians responded to the survey (85% response rate). The results indicated that caregivers of the children with autism spectrum disorder, attention-deficit hyperactivity disorder and mental retardation took them to the hospital later than they should have essentially done. Conversely, children born prematurely or those with allergies were taken to the hospitals even when the symptoms were mild. Conclusions: Caregivers make decisions on when to visit the hospital based on the child´s expression of pain and their behavior. The creation of guidelines to give appropriate guidance to caregivers as to when to visit the hospital is essential.

TÍTULO / TITLE:   - Altruistic helping in young children with ASD: A preliminary study

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REVISTA / JOURNAL:    - Res Dev Disabil. 2021 Nov;118:104067. doi: 10.1016/j.ridd.2021.104067. Epub 2021 Aug 20.

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AUTORES / AUTHORS: - Mirella Manfredi et al.

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

RESUMEN / SUMMARY: - It has long been claimed that individuals with an autism spectrum disorder (ASD) show impaired prosocial behavior, however there is little direct evidence in support of this claim and inconsistencies have been reported in the literature. Therefore, the goal of this study was to compare the levels of altruistic behavior in 15 young children with an ASD and 14 children with Down syndrome, paired in chronological age (age range between 2 years and 8 months and 6 years and 2 months) and non-verbal intellectual ability. Our results showed that children with an ASD engaged less frequently in altruistic behavior compared to the DS group. In addition, we found a significant negative correlation between the severity of autism symptoms and altruistic behavior in the ASD group, suggesting that the more severe the symptoms of ASD, the less frequent the altruistic behaviors. Conversely, no significant correlations were found between non-verbal IQ level and performance in the altruistic behavior tasks, in either group. Overall, our results suggest that, regardless of intellectual skills, the ability to engage in altruistic behavior is compromised in young children with ASD.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Children with Down syndrome and sleep disordered breathing have altered cardiovascular control

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REVISTA / JOURNAL:    - Pediatr Res. 2021 Oct;90(4):819-825. doi: 10.1038/s41390-020-01285-6. Epub 2020 Nov 23.

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AUTORES / AUTHORS: - Rosemary S C Horne et al.

INSTITUCIÓN / INSTITUTION: - he Ritchie Centre, Department of Paediatrics, Monash University and Hudson Institute of Medical Research, Melbourne, VIC, Australia. 

RESUMEN / SUMMARY: - Background: Sleep disordered breathing (SDB) in typically developing (TD) children is associated with adverse cardiovascular effects. As children with Down syndrome (DS) are at increased risk for SDB, we aimed to compare the cardiovascular effects of SDB in children with DS to those of TD children with and without SDB. Methods: Forty-four children with DS (3-19 years) were age and sex matched with 44 TD children without SDB (TD-) and with 44 TD children with matched severity of SDB (TD+). Power spectral density was calculated from ECG recordings, for low frequency (LF), high frequency (HF), total power and the LF/HF ratio. Results: Children with DS had lower HF power, and higher LF/HF during sleep and when awake. There were no differences between groups for LF power. SpO2 nadir, average SpO2 drop and SpO2 > 4% drop were larger in the DS group compared to the TD+ group (p < 0.05 for all). Conclusions: Our findings demonstrate significantly reduced parasympathetic activity (reduced HF power) and increased LF/HF (a measure of sympathovagal balance) in children with DS, together with greater exposure to hypoxia, suggesting SDB has a greater effect in these children that may contribute to an increased risk of adverse cardiovascular outcomes.

TÍTULO / TITLE:   - Treatment Considerations for Obstructive Sleep Apnea in Pediatric Down Syndrome

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REVISTA / JOURNAL:    - Children (Basel). 2021 Nov 22;8(11):1074. doi: 10.3390/children8111074. Free PMC article

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AUTORES / AUTHORS: - Erica Gastelum et al.

INSTITUCIÓN / INSTITUTION: - School of Medicine, University of California San Francisco, Fresno, CA 94143, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are at high risk for developing obstructive sleep apnea (OSA) compared to children without DS. The negative impact of OSA on health, behavior, and cognitive development in children with DS highlights the importance of timely and effective treatment. Due to the higher prevalence of craniofacial and airway abnormalities, obesity, and hypotonia in patients with DS, residual OSA can still occur after exhausting first-line options. While treatment commonly includes adenotonsillectomy (AT) and continuous positive airway pressure (CPAP) therapy, additional therapy such as medical management and/or adjuvant surgical procedures need to be considered in refractory OSA. Given the significant comorbidities secondary to untreated OSA in children with DS, such as cardiovascular and neurobehavioral consequences, more robust randomized trials in this patient population are needed to produce treatment guidelines separate from those for the general pediatric population of otherwise healthy children with OSA. Further studies are also needed to look at desensitization and optimization of CPAP use in patients with DS and OSA.

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.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Discovery of novel 6-hydroxybenzothiazole urea derivatives as dual Dyrk1A/α-synuclein aggregation inhibitors with neuroprotective effects

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REVISTA / JOURNAL:    - Eur J Med Chem. 2021 Oct 9;227:113911. doi: 10.1016/j.ejmech.2021.113911. Online ahead of print.

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AUTORES / AUTHORS: - Yasmeen T AlNajjar et al.

INSTITUCIÓN / INSTITUTION: - Department of Pharmaceutical Chemistry, Faculty of Pharmacy and Biotechnology, German University in Cairo, Cairo, 11835, Egypt. 

RESUMEN / SUMMARY: - A role of Dyrk1A in the progression of Down syndrome-related Alzheimer´s disease (AD) is well supported. However, the involvement of Dyrk1A in the pathogenesis of Parkinson´s disease (PD) was much less studied, and it is not clear whether it would be promising to test Dyrk1A inhibitors in relevant PD models. Herein, we modified our previously published 1-(6-hydroxybenzo[d]thiazol-2-yl)-3-phenylurea scaffold of Dyrk1A inhibitors to obtain a new series of analogues with higher selectivity for Dyrk1A on the one hand, but also with a novel, additional activity as inhibitors of α-synuclein (α-syn) aggregation, a major pathogenic hallmark of PD. The phenyl acetamide derivative b27 displayed the highest potency against Dyrk1A with an IC50 of 20 nM and high selectivity over closely related kinases. Furthermore, b27 was shown to successfully target intracellular Dyrk1A and to inhibit SF3B1 phosphorylation in HeLa cells with an IC50 of 690 nM. In addition, two compounds among the Dyrk1A inhibitors, b1 and b20, also suppressed the aggregation of α-synuclein (α-syn) oligomers (with IC50 values of 10.5 μM and 7.8 μM, respectively). Both compounds but not the Dyrk1A reference inhibitor harmine protected SH-SY5Y neuroblastoma cells against α-syn-induced cytotoxicity, with b20 exhibiting a higher neuroprotective effect. Compound b1 and harmine were more efficient in protecting SH-SY5Y cells against 6-hydroxydopamine-induced cell death, an effect that was previously correlated to Dyrk1A inactivation in cells but not yet verified using chemical inhibitors. The presented dual inhibitors exhibited a novel activity profile encouraging for further testing in neurodegenerative disease models.

TÍTULO / TITLE:   - Maternal Choline Supplementation as a Potential Therapy for Down Syndrome: Assessment of Effects Throughout the Lifespan

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2021 Oct 6;13:723046. doi: 10.3389/fnagi.2021.723046. eCollection 2021. Free

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AUTORES / AUTHORS: - Brian E Powers et al.

INSTITUCIÓN / INSTITUTION: - Division of Nutritional Sciences, Cornell University, Ithaca, NY, United States. 

RESUMEN / SUMMARY: - Maternal choline supplementation (MCS) has emerged as a promising therapy to lessen the cognitive and affective dysfunction associated with Down syndrome (DS). Choline is an essential nutrient, especially important during pregnancy due to its wide-ranging ontogenetic roles. Using the Ts65Dn mouse model of DS, our group has demonstrated that supplementing the maternal diet with additional choline (4-5 × standard levels) during pregnancy and lactation improves spatial cognition, attention, and emotion regulation in the adult offspring. The behavioral benefits were associated with a rescue of septohippocampal circuit atrophy. These results have been replicated across a series of independent studies, although the magnitude of the cognitive benefit has varied. We hypothesized that this was due, at least in part, to differences in the age of the subjects at the time of testing. Here, we present new data that compares the effects of MCS on the attentional function of adult Ts65Dn offspring, which began testing at two different ages (6 vs. 12 months of age). These data replicate and extend the results of our previous reports, showing a clear pattern indicating that MCS has beneficial effects in Ts65Dn offspring throughout life, but that the magnitude of the benefit (relative to non-supplemented offspring) diminishes with aging, possibly because of the onset of Alzheimer´s disease-like neuropathology. In light of growing evidence that increased maternal choline intake during pregnancy is beneficial to the cognitive and affective functioning of all offspring (e.g., neurotypical and DS), the addition of this nutrient to a prenatal vitamin regimen would be predicted to have population-wide benefits and provide early intervention for fetuses with DS, notably including babies born to mothers unaware that they are carrying a fetus with DS.

Education - Educación

TÍTULO / TITLE:   - Educational experiences of pupils with Down syndrome in the UK

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REVISTA / JOURNAL:    - Res Dev Disabil. 2021 Dec;119:104115. doi: 10.1016/j.ridd.2021.104115. Epub 2021 Oct 29.

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AUTORES / AUTHORS: - Stephanie Hargreaves et al

INSTITUCIÓN / INSTITUTION: - Manchester Institute of Education, University of Manchester, Manchester, UK. 

RESUMEN / SUMMARY: - Background: Though research has identified that increasing numbers of pupils with Down syndrome (DS) in the UK are educated in mainstream schools, little detailed information about the educational experiences of pupils with DS is available. Aims: This study explored parent views of the educational experiences of pupils with DS attending UK schools (Reception-Year 11) using an online survey. Methods and procedures: Responses from 569 parents were collected. Outcomes and results: Overall, 65 % of pupils were in mainstream schools but this was more common at primary (80 %) than secondary school (37 %). Pupils participated in most academic and social activities alongside their peers but were commonly not accessing all opportunities. Many pupils received additional support in school including external professional services. Frequent meetings between parents and teachers/teaching assistants indicated high levels of collaboration. Teachers and teaching assistants were largely viewed as responsible for children´s learning. Overall, respondents reported satisfaction with provision. Conclusions and implications: Many pupils with DS in the UK are able to access a broad and balanced curriculum but this is not the case for all. Ways in which provision can be enhanced are discussed.

TÍTULO / TITLE:   - Parental Age in Relation to Offspring´s Neurodevelopment

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REVISTA / JOURNAL:    - J Clin Child Adolesc Psychol. Sep-Oct 2021;50(5):632-644. doi: 10.1080/15374416.2020.1756298. Epub 2

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AUTORES / AUTHORS: - S A M Veldkamp et al

INSTITUCIÓN / INSTITUTION: - Department of Biological Psychology, Vrije Universiteit Amsterdam. 

RESUMEN / SUMMARY: - Objective: Advanced parenthood increases the risk of severe neurodevelopmental disorders like autism, Down syndrome and schizophrenia. Does advanced parenthood also negatively impact offspring´s general neurodevelopment? Method: We analyzed child-, father-, mother- and teacher-rated attention-problems (N = 38,024), and standardized measures of intelligence (N = 10,273) and educational achievement (N = 17,522) of children from four Dutch population-based cohorts. The mean age over cohorts varied from 9.73-13.03. Most participants were of Dutch origin, ranging from 58.7%-96.7% over cohorts. We analyzed 50% of the data to generate hypotheses and the other 50% to evaluate support for these hypotheses. We aggregated the results over cohorts with Bayesian research synthesis. Results: We mostly found negative linear relations between parental age and attention-problems, meaning that offspring of younger parents tended to have more attention problems. Maternal age was positively and linearly related to offspring´s IQ and educational achievement. Paternal age showed an attenuating positive relation with educational achievement and an inverted U-shape relation with IQ, with offspring of younger and older fathers at a disadvantage. Only the associations with maternal age remained after including SES. The inclusion of child gender in the model did not affect the relation between parental age and the study outcomes. Conclusions: Effects were small but significant, with better outcomes for children born to older parents. Older parents tended to be of higher SES. Indeed, the positive relation between parental age and offspring neurodevelopmental outcomes was partly confounded by SES.

TÍTULO / TITLE:   - The Home Learning Environment of Primary School Children with Down Syndrome and those with Williams Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2021 May 31;11(6):733. doi: 10.3390/brainsci11060733. Free PMC article

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AUTORES / AUTHORS: - Erica Ranzato et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Human Development, UCL Institute of Education, 20 Bedford Way, Bloomsbury, London WC1H 0AL, UK. 

RESUMEN / SUMMARY: - Background and aims: Research on typically developing (TD) populations has shown that the home learning environment plays a significant role in cognitive development and learning, but very little is known about the home learning environment of children with Down syndrome (DS) or children with Williams syndrome (WS). The present study examined and compared, for the first time, the home learning environment of children diagnosed with DS and children diagnosed with WS to investigate whether different cognitive profiles were reflected in their home literacy and number experiences. Methods and procedures: Quantitative and qualitative data were collected through a web-based survey from 58 parents and one foster parent of primary school children with DS (n = 35) and WS (n = 24) mostly based in the UK. The survey targeted the children´s general level of functioning and academic skills; type, format, and frequency of home learning activities; parents´ expectations for their child´s academic outcomes; parents´ attitudes towards literacy and mathematics; children´s interest towards mathematics; and the use of technology to support home learning activities. Outcomes and results: Our results showed that, overall, the home learning environment of children with DS and children with WS were similar but changed based on the child´s cognitive profile. Comparative analyses showed that parents of children with DS engaged more often in activities supporting counting than parents of children with WS, despite both groups reporting difficulties with this skill. Moreover, our results indicated that literacy-based activities occurred more often than mathematics-based activities and that the home numeracy environment was characterized by activities supporting different mathematical skills such as counting, arithmetic, and numeracy. Parents in both groups engaged with their child in both formal and informal literacy and mathematics-based activities, but informal activities occurred mo

TÍTULO / TITLE:   - Phonological development in school-aged Kuwaiti Arabic children with Down syndrome: A pilot study

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REVISTA / JOURNAL:    - J Commun Disord. Sep-Oct 2021;93:106128. doi: 10.1016/j.jcomdis.2021.106128. Epub 2021 Jun 2.

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AUTORES / AUTHORS: - Hadeel Ayyad et al

INSTITUCIÓN / INSTITUTION: - Department of Communication Disorder Sciences, Faculty of Life Sciences, Kuwait University, P.O Box 5969 Safat 13060, Kuwait. 

RESUMEN / SUMMARY: - Background: Studies on atypical phonological development are very limited for Arabic, and to date no studies on Arabic have investigated the development of phonology in children with conditions such as Down Syndrome. Arabic, like other Semitic languages, is rich in consonants and consonantal variation. However, it differs greatly from region to region, and so reports on individual dialects or regional dialects are necessary. Kuwaiti Arabic, the focus of the present paper, is similar to other dialects in the Gulf region. Aim: This is a preliminary study to examine the phonological development of school-aged Kuwaiti Arabic-speaking children with Down Syndrome in order to start to address the research gap noted above. Methods & procedures: Six Kuwaiti Arabic-speaking children were recruited for this pilot study from integrated public schools where children with disabilities and typically developing children are enrolled in the State of Kuwait: three male and three female students, age range of 5;10-12;3 years. All participants had the same single word speech test of 100 words. The first author, a native speaker of Kuwaiti Arabic, audio-recorded and phonetically transcribed the sample with the help of two speech-language pathologists from Kuwait. Reliability was confirmed by the first author and another expert rater. Both match and mismatch analyses were performed and compared to existing literature. Outcomes & results: Overall consonant accuracy across participants was 50%, with a variety of matches across consonant categories. However, the participants also exhibited a wide range of mismatches across positions in words and phonological features (place, manner, and laryngeal features). Place substitutions were the most frequent. Some sounds exhibited double (place and manner) mismatches. The most common word structure mismatch was consonant cluster reduction (no matches for word-initial clusters). Mismatch patterns resembled both those of normally developing Kuwait

TÍTULO / TITLE:   - Late start of early intervention in children with Down syndrome

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REVISTA / JOURNAL:    - Andes Pediatr. 2021 Jun;92(3):411-419. doi: 10.32641/andespediatr.v92i3.3449. [Article in English,

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AUTORES / AUTHORS: - Danys Fredes et al.

INSTITUCIÓN / INSTITUTION: - Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 

RESUMEN / SUMMARY: - Introduction: Early intervention (EI) is key in the lives of children with Down syndrome (CHwDS). Starting it befo re 60 days of life (DOL) has better results in future development. Objective: To assess the factors that delay the beginning of EI in CHwDS. Subjects and method: Parents of CHwDS who attended EI pro grams during their first year of life participated. Social, family, and health factors that could influence the time of initiation of EI were evaluated and compared according to the start of EI (before vs after 60DOL). For the analysis of categorical variables, Fisher´s exact test was used and for the association between the numerical ones, the Student T-test for independent samples. Results: 125 questionnaires were analyzed. 51.2% started EI after 6ODOL, and of them, 25% started after 6 months of age. Late initiation of EI was associated with hospitalization before 3 months of age (OR = 2.5), long hospital stays (OR = 2.4), lower educational level of the father (OR = 4.7) and of the mother (OR = 3.4), birth in the public health system (OR = 11.8), and access to free EI centers (OR = 2.4). The high socioe conomic level was the only protective factor (OR = 0.4) for early initiation. Conclusions: More than 50% of CHwDS begin EI programs late. This was associated with early hospitalization, prolonged hospital stays, and socioeconomic status. It is urgent to allocate resources and generate public policies that allow guaranteed access to EI programs.

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.

TÍTULO / TITLE:   - Speech production accuracy in children with Down syndrome: relationships with hearing, language, and reading ability and change in speech production accuracy over time

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2021 Dec;65(12):1021-1032. doi: 10.1111/jir.12890. Epub 2021 Oct 6.

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AUTORES / AUTHORS: - K Burgoyne et al

INSTITUCIÓN / INSTITUTION: - Manchester Institute of Education, University of Manchester, Manchester, UK. 

RESUMEN / SUMMARY: - Background: This study examines speech production accuracy in children with Down syndrome and concurrent relationships with hearing, language and reading ability. It also examines change in speech production accuracy over a 21-month period. Methods: A group of 50 children with Down syndrome (aged 5-10 years) completed measures of speech accuracy, non-verbal IQ, reading (single-word reading, letter-sound knowledge and phoneme blending) and language (expressive and receptive vocabulary and receptive grammar). Hearing was assessed by parental report. Speech accuracy was reassessed 21 months later. Results: Although there was considerable variability in the sample, speech was characterised by high levels of errors. There were no effects of gender, hearing status or non-verbal IQ on speech production accuracy. In contrast, speech production accuracy was significantly related to age and to measures of receptive vocabulary, phoneme blending and word reading. There was no significant improvement in speech production accuracy over time. Conclusions: Children with Down syndrome experience difficulties producing accurate sounds in speech. These difficulties are related to age and to vocabulary and reading skills and persist over time, highlighting the need for intensive targeted speech intervention in this group of children.

TÍTULO / TITLE:   - Occurrence of Reading Skills in a National Age Cohort of Norwegian Children with Down Syndrome: What Characterizes Those Who Develop Early Reading Skills?

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REVISTA / JOURNAL:    - Brain Sci. 2021 Apr 21;11(5):527. doi: 10.3390/brainsci11050527. Free PMC article

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AUTORES / AUTHORS: - Kari-Anne B Næss et al

INSTITUCIÓN / INSTITUTION: - Department of Special Needs Education, University of Oslo, 0318 Oslo, Norway. 

RESUMEN / SUMMARY: - Children with Down syndrome are at risk of reading difficulties. Reading skills are crucial for social and academic development, and thus, understanding the nature of reading in this clinical group is important. This longitudinal study investigated the occurrence of reading skills in a Norwegian national age cohort of 43 children with Down syndrome from the beginning of first grade to third grade. Data were collected to determine which characteristics distinguished those who developed early reading skills from those who did not. The children´s decoding skills, phonological awareness, nonverbal mental ability, vocabulary, verbal short-term memory, letter knowledge and rapid automatized naming (RAN) performance were measured annually. The results showed that 18.6% of the children developed early decoding skills by third grade. Prior to onset, children who developed decoding skills had a significantly superior vocabulary and letter knowledge than non-readers after controlling for nonverbal mental abilities. These findings indicate that early specific training that focuses on vocabulary and knowledge of words and letters may be particularly effective in promoting reading onset in children with Down syndrome.

TÍTULO / TITLE:   - Using the ImPAACT program with preschoolers with Down syndrome: a hybrid service-delivery model

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REVISTA / JOURNAL:    - Augment Altern Commun. 2021 Jun;37(2):113-128. doi: 10.1080/07434618.2021.1921025. Epub 2021 Jul 9.

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AUTORES / AUTHORS: - Erika M Timpe et al

INSTITUCIÓN / INSTITUTION: - School of Communication Sciences and Disorders, University of Central Florida, Orlando, USA. 

RESUMEN / SUMMARY: - Three parents of preschool-aged children with Down syndrome using mobile augmentative and alternative communication (AAC) technologies to communicate participated indirect, systematic communication-partner instruction. Intervention featured an adaptation of the ImPAACT Program (Improving Partner Applications of Augmentative Communication Techniques; Kent-Walsh, Binger, & Malani, 2010) that included six face-to-face and three telepractice sessions. Parents learned to use the evidence-based Read-Ask-Answer (RAA) instructional strategy (Kent-Walsh, Binger, & Hasham, 2010) during shared storybook reading with their children. A single-case, multiple-probe across participants design was used to assess parents´ accurate implementation of the instructional strategy and children´s multimodal communicative turns. All three parents increased their use of the RAA strategy and maintained strategy use over time, and all three children increased their frequency of communicative turns taken and maintained higher turn-taking rates. Results support the use of the ImPAACT Program with parents of children with complex communication needs, including the integration of hybrid learning as part of the instructional approach.

TÍTULO / TITLE:   - Personalized AAC Intervention to Increase Participation and Communication for a Young Adult with Down Syndrome

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REVISTA / JOURNAL:    - Top Lang Disord. 2021;41(3):232-248.

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AUTORES / AUTHORS: - Salena Babb et al.

INSTITUCIÓN / INSTITUTION: - Department of Educational Psychology, Counselling, and Special Education, The Pennsylvania State University. 

RESUMEN / SUMMARY: - Many adults with Down syndrome (DS) experience difficulty with speech production, and intelligibility challenges and communication breakdowns are common. Augmentative and alternative communication (AAC) intervention can provide important supports for persons with these complex communication needs, but must be customized to address the goals, strengths, and needs of the individual. This article provides a description of a personalized AAC intervention for a young adult with DS whose speech was frequently unintelligible. The AAC intervention made use of a video visual scene display (VSD) approach, and was investigated in two separate studies in two key community settings: An inclusive post-secondary education program (a single-case reversal ABAB design), and a community shopping activity (a non-experimental AB case study design). The participant demonstrated sharp increases in successful communication and participation in both settings following the introduction of the video VSD, and both the participant and key stakeholders viewed the intervention positively. The results provide preliminary evidence that personalized AAC intervention, including the use of a video VSD approach, can provide important supports for communication and participation in community settings for adults with DS and complex communication needs.

TÍTULO / TITLE:   - Acquisition of cognitive and communication milestones in infants with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2021 Nov 10. doi: 10.1111/jir.12893. Online ahead of print.

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AUTORES / AUTHORS: - S Onnivello et al.

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

RESUMEN / SUMMARY: - Background: Understanding the timing of developmental milestones in typical and clinical populations facilitates intervention planning and the early detection of risk for co-occurring conditions. Normative timing of developmental milestone achievement has been established for typically developing children. However, there is little information regarding the timing of cognitive and communication skill acquisition in young children with Down syndrome (DS). The objectives of this study are to (1) provide foundational information regarding the timing of cognitive and communication skill acquisition in infants with DS and (2) facilitate the early identification of infants with risk for co-occurring conditions. Method: Seventy-four infants with DS (age range: 4-18 months) completed the Bayley Scales of Infant Development-III (Bayley 2006). Individual items from the cognitive and communication scales were selected for analysis. Parents provided information regarding their infant´s developmental and family history. Results: The percentage of infants who attained each skill was calculated within 2-month age bands. For infants who did not show skill acquisition within each age band, the rates of prematurity, heart defects, corrective heart surgery and significant illness were calculated as well. Conclusions: This study provides foundational information that can contribute to the formulation of a developmental schedule for cognitive and language milestone acquisition in infants with DS.

TÍTULO / TITLE:   - Assessing Phonological Profiles in Children and Adolescents With Down Syndrome: The Effect of Elicitation Methods

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REVISTA / JOURNAL:    - Front Psychol. 2021 May 12;12:662257. doi: 10.3389/fpsyg.2021.662257. eCollection 2021. Free PMC ar

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AUTORES / AUTHORS: - Eliseo Diez-Itza et al.

INSTITUCIÓN / INSTITUTION: - LOGIN Research Group, Department of Psychology, University of Oviedo, Oviedo, Spain. 

RESUMEN / SUMMARY: - In the context of comparing linguistic profiles across neurodevelopmental disorders, Down syndrome (DS) has captured growing attention for its uneven profile. Although specific weaknesses in grammatical and phonological processing have been reported, research evidence on phonological development remains scarce, particularly beyond early childhood. The purpose of this study was to explore the phonological profiles of children and adolescents with Down syndrome. The profiles were based on the frequency and relative proportion of the processes observed by classes, and they were compared to those of typically developing preschool children of similar verbal age. A complementary goal was to assess the effect of two different methods of elicitation: a test of articulation and spontaneous speech sampling. Finally, intergroup and intragroup differences in full match percentages between three positions at syllable-level (complex onset, medial coda, and final coda) were assessed. The results of the present study confirmed that the frequency of phonological processes in children and adolescents with DS is atypically high and is above what is expected for lexical age and at the same level as grammatical age. Highly increased frequency of processes, consistent in all kinds of processes and positions at the syllable-level, and asynchronous with verbal age and mental age suggest atypical developmental trajectories of phonological development in the Down syndrome population.

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