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Mayo - Junio 2018
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Aging - Envejecimiento

TÍTULO / TITLE:   - Anti-IL17 treatment ameliorates Down syndrome phenotypes in mice.

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REVISTA / JOURNAL:    - Brain Behav Immun. 2018 May 16. pii: S0889-1591(18)30179-X. doi: 10.1016/j.bbi.2018.05.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.bbi.2018.05.008

AUTORES / AUTHORS: - Rueda N .... Martinez-Cue C;

INSTITUCIÓN / INSTITUTION: - Department of Physiology and Pharmacology, Faculty of Medicine, University of Cantabria, Santander, España. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer’s disease (AD)-associated neuropathology (i.e., beta-amyloid (Abeta) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology. In AD mouse models, increased neuroinflammation appears earlier than Abeta plaques and NFTs, and in DS and AD models, neuroinflammation exacerbates the levels of soluble and insoluble Abeta species, favoring neurodegeneration. The Ts65Dn (TS) mouse, the most commonly used murine model of DS, recapitulates many alterations present in both DS and AD individuals, including enhanced neuroinflammation. In this study, we observed an altered neuroinflammatory milieu in the hippocampus of the TS mouse model. Pro-inflammatory mediators that were elevated in the hippocampus of this model included pro-inflammatory cytokine IL17A, which has a fundamental role in mediating brain damage in neuroinflammatory processes. Here, we analyzed the ability of an anti-IL17A antibody to reduce the neuropathological alterations that are present in TS mice during early neurodevelopmental stages (i.e., hippocampal neurogenesis and hypocellularity) or that are aggravated in later-life stages (i.e., cognitive abilities, cholinergic neuronal loss and increased cellular senescence, APP expression, Abeta peptide expression and neuroinflammation). Administration of anti-IL17 for 5 months, starting at the age of 7 months, partially improved the cognitive abilities of the TS mice, reduced the expression of several pro-inflammatory cytokines and the density of activated microglia and normalized the APP and Abeta1

TÍTULO / TITLE:   - Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease.

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REVISTA / JOURNAL:    - Acta Neuropathol. 2018 May 16. pii: 10.1007/s00401-018-1866-3. doi: 10.1007/s00401-018-1866-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00401-018-1866-3

AUTORES / AUTHORS: - Mann DMA et al

INSTITUCIÓN / INSTITUTION: - Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, School of Biological Sciences, Salford Royal Hospital, University of Manchester, Salford, UK. 

RESUMEN / SUMMARY: - In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer’s disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes. Since lipid and cholesterol metabolism is implicated in AD as well as vascular disease, we additionally aimed to explore the role of APOE genotype in CAA severity and subtypes. Plaque formation was greater in DS and missense APP mutations than in APPdup, sEOAD and sLOAD cases. Conversely, CAA was more severe in APPdup and missense APP mutations, and in DS, compared to sEOAD and sLOAD. When stratified by CAA subtype from 1 to 4, there were no differences in plaque scores between the groups, though in patients with APPdup, APP mutations and sEOAD, types 2 and 3 CAA were more common than type 1. Conversely, in DS, sLOAD and controls, type 1 CAA was more common than types 2 and 3. APOE epsilon4 allele frequency was greater in sEOAD and sLOAD compared to APPdup, missense APP mutations, DS and controls, and varied between each of the CAA phenotypes with APOE epsilon4 homozygosity being more commonly associated with type 3 CAA than types 1 and 2 CAA in sLOAD and sEOAD. The differing patterns in CAA within individuals of each group could be a reflection of variations in the efficiency of perivascular drainage, this being less effective in types 2 and 3 CAA leading to a greater burden of CAA in parenchymal arteries and capillaries. Alternatively, as suggested by immunostaining using carboxy-terminal specific antibodies, it may relate to the relative tissue burdens of the two major forms of Abeta, with higher levels of Abeta40 promotin

TÍTULO / TITLE:   - microRNA 155 up regulation in the CNS is strongly correlated to Down’s syndrome dementia. LINK: Link to its Abstract

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REVISTA / JOURNAL:    - Ann Diagn Pathol. 2018 Mar 26;34:103-109. doi: 10.1016/j.anndiagpath.2018.03.006.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.anndiagpath.2018.03.006

AUTORES / AUTHORS: - Tili E; ... Nuovo G;

INSTITUCIÓN / INSTITUTION: - GNOME Diagnostics, Powell, OH 43065, USA; OSU Comprehensive Cancer Center, Columbus, OH 43210, USA. 

RESUMEN / SUMMARY: - This study examined the molecular correlates of Down’s dementia. qRTPCR for chromosome 21 microRNAs was correlated with in situ hybridization, immunohistochemistry for microRNA targets, mRNAs located on chromosome 21, and neurofibrillary tangles in human and the Ts65 dn mouse Down’s model. qRTPCR for the microRNAs on the triplicated chromosome showed miR-155 dominance in brain tissues (14.3 fold increase, human and 24.2 fold increase, mouse model) that co-expressed with hyperphosphorylated tau protein. miR-155 was not elevated in Alzheimer’s disease or neonates with Downs’ syndrome. Chromosome 21 genes APP/BA-42, DYRK1a and BACH1 were not correlated to pathologic changes in Down’s dementia. Validated CNS targets of miR-155 that were present in controls and Alzheimer’s disease but lacking in Down’s dementia brains included BACH1, CoREST1, bcl6, BIM, bcl10, cyclin D, and SAPK4. It is concluded that Down’s dementia strongly correlated with overexpression of chromosome 21 microRNA 155 with concomitant reduction of multiple CNS-functional targets. This study highlights the need for anatomic pathologists to determine the specific and diverse pathways cells may take to form neurofibrillary tangles in the different dementias.

TÍTULO / TITLE:   - The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.

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REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;63(2):797-819. doi: 10.3233/JAD-170920.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-170920

AUTORES / AUTHORS: - Dekker AD; et al.

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

RESUMEN / SUMMARY: - People with Down syndrome (DS) are prone to develop Alzheimer’s disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated. The central aim was to identify items that change in relation to the dementia status, and thus may differentiate between diagnostic groups. Structured interviews were conducted with informants of persons with DS without dementia (DS, n = 149), with questionable dementia (DS+Q, n = 65), and with diagnosed dementia (DS+AD, n = 67). First exploratory data suggest promising interrater, test-retest, and internal consistency reliability measures. Concerning item relevance, group comparisons revealed pronounced increases in frequency and severity in items of anxiety, sleep disturbances, agitation & stereotypical behavior, aggression, apathy, depressive symptoms, and eating/drinking behavior. The proportion of individuals presenting an increase was highest in DS+AD, intermediate in DS+Q, and lowest in DS. Interestingly, among DS+Q individuals, a substantial proportion already presented increased anxiety, sleep disturbances, apathy, and depressive symptoms, suggesting that these changes occur early in the course of AD. Future efforts should optimize the scale based on current results and clinical experiences, and further study applicability, reliability, and validity. Future application of the scale in daily care may aid caregivers to understand changes, and contribute to timely interventions and adaptation of caregiving.

TÍTULO / TITLE:   - Monoaminergic impairment in Down syndrome with Alzheimer’s disease compared to early-onset Alzheimer’s disease.

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REVISTA / JOURNAL:    - Alzheimers Dement (Amst). 2017 Nov 23;10:99-111. doi: 10.1016/j.dadm.2017.11.001. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.dadm.2017.11.001

AUTORES / AUTHORS: - Dekker AD; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Introduction: People with Down syndrome (DS) are at high risk for Alzheimer’s disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but have not been comprehensively studied in DS. Methods: Noradrenaline, adrenaline, and their metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG); dopamine and its metabolites 3,4-dihydroxyphenylacetic acid (DOPAC) and homovanillic acid; and serotonin and its metabolite 5-hydroxyindoleacetic acid were quantified in 15 brain regions of DS without AD (DS, n = 4), DS with AD (DS+AD, n = 17), early-onset AD (EOAD, n = 11) patients, and healthy non-DS controls (n = 10) in the general population. Moreover, monoaminergic concentrations were determined in cerebrospinal fluid (CSF)/plasma samples of DS (n = 37/149), DS with prodromal AD (DS+pAD, n = 13/36), and DS+AD (n = 18/40). Results: In brain, noradrenergic and serotonergic compounds were overall reduced in DS+AD versus EOAD, while the dopaminergic system showed a bidirectional change. For DS versus non-DS controls, significantly decreased MHPG levels were noted in various brain regions, though to a lesser extent than for DS+AD versus EOAD. Apart from DOPAC, CSF/plasma concentrations were not altered between groups. Discussion: Monoamine neurotransmitters and metabolites were evidently impacted in DS, DS+AD, and EOAD. DS and DS+AD presented a remarkably similar monoaminergic profile, possibly related to early deposition of amyloid pathology in DS. To confirm whether monoaminergic alterations are indeed due to early amyloid beta accumulation, future avenues include positron emission tomography studies of monoaminergic neurotransmission in relation to amyloid deposition, as well as relating monoaminergic concentrations to CSF/plasma levels of amyloid beta and tau within individuals.

TÍTULO / TITLE:   - Imaging neurodegeneration in Down syndrome: brain templates for amyloid burden and tissue segmentation.

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REVISTA / JOURNAL:    - Brain Imaging Behav. 2018 May 11. pii: 10.1007/s11682-018-9888-y. doi: 10.1007/s11682-018-9888-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s11682-018-9888-y

AUTORES / AUTHORS: - Lao PJ; et al

INSTITUCIÓN / INSTITUTION: - Department of Medical Physics, University of Wisconsin-Madison, 1111 Highland Ave, Madison, WI, 53705, USA. 

RESUMEN / SUMMARY: - The focus of Alzheimer’s disease (AD) neuroimaging research has shifted towards an investigation of the earliest stages of AD pathogenesis, which manifests in every young adult with Down syndrome (DS; trisomy 21) resulting from a deterministic genetic predisposition to amyloid precursor protein overproduction. Due to morphological differences in brain structure in the DS population, special consideration must be given to processing pipelines and the use of normative atlases developed for the non-DS population. Further, the use of typical MRI to MRI template spatial normalization is less desirable in this cohort due to a greater presence of motion artefacts in MRI images. The diffuse nature of PiB uptake and comparatively lower spatial resolution of the PET image permits the purposing of this modality as a template for spatial normalization, which can substantially improve the robustness of this procedure in the cases of MRI images with motion. The aim of this work was to establish standardized methods for spatial normalization and tissue type segmentation using DS specific templates in order to perform voxel-wise analyses. A total of 72 adults with DS underwent [(11)C]PiB PET to assess brain amyloid burden and volumetric MRI imaging. A DS specific PiB template for spatial normalization and a set of DS specific prior probability templates were created with two-pass methods. With implementation of this DS specific PiB template, no participants were excluded due to poor spatial normalization, thus maximizing the sample size for PiB analyses in standardized space. In addition, difference images between prior probability templates created from the general population and the DS population reflected known morphological differences, particularly in the frontal cortex. In conclusion, DS specific templates that account for unique challenges improve spatial normalization and tissue type segmentation, and provide a framework for reliable voxel-wise analysis of AD biomarkers in

TÍTULO / TITLE:   - Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome.

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REVISTA / JOURNAL:    - Alzheimers Res Ther. 2018 Apr 10;10(1):39. doi: 10.1186/s13195-018-0367-x.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13195-018-0367-x

AUTORES / AUTHORS: - Strydom A et al.

INSTITUCIÓN / INSTITUTION: - UK Dementia Research Institute at UCL, London, UK. 

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS) may be considered a genetic form of Alzheimer’s disease (AD) due to universal development of AD neuropathology, but diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. A potential biomarker is neurofilament light (NF-L), due to its association with axonal damage in neurodegenerative conditions. METHODS: We measured blood NF-L concentrations in 100 adults with DS using Simoa NF-light® assays, and we examined relationships with age as well as cross-sectional and longitudinal dementia diagnosis. RESULTS: NF-L concentrations increased with age (Spearman’s rho = 0.789, p < 0.001), with a steep increase after age 40, and they were predictive of dementia status (p = 0.022 adjusting for age, sex, and APOE4), but they showed no relationship with long-standing epilepsy or premorbid ability. Baseline NF-L concentrations were associated with longitudinal dementia status. CONCLUSIONS: NF-L is a biomarker for neurodegeneration in DS with potential for use in future clinical trials to prevent or delay dementia.

TÍTULO / TITLE:   - Supporting advanced dementia in people with Down syndrome and other intellectual disability: consensus statement of the International Summit on Intellectual Disability and Dementia.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jul;62(7):617-624. doi: 10.1111/jir.12500. Epub 2018 May 20.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12500

AUTORES / AUTHORS: - McCarron M; et al.

INSTITUCIÓN / INSTITUTION: - School of Nursing and Midwifery Studies, Trinity College Dublin, Dublin, Ireland. 

RESUMEN / SUMMARY: - BACKGROUND: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical function, including a high probability of further deterioration and leading to death. METHOD: The question before the Summit was whether there were similarities and differences in expressions of advanced dementia between adults with intellectual disability (ID) and adults in the general population. RESULTS: The Summit noted challenges in the staging of advanced dementia in people with ID with the criteria in measures designed to stage dementia in the general population heavily weighted on notable impairment in activities of daily living. For many people with an ID, there is already dependence in these domains generally related to the individuals pre-existing level of intellectual impairment, that is, totally unrelated to dementia. Hence, the Summit agreed that as was true in achieving diagnosis, it is also imperative in determining advanced dementia that change is measured from the person’s prior functioning in combination with clinical impressions of continuing and marked decline and of increasing co-morbidity, including particular attention to late-onset epilepsy in people with Down syndrome. It was further noted that quality care planning must recognise the greater likelihood of physical symptoms, co-morbidities, immobility and neuropathological deterioration. CONCLUSIONS: The Summit recommended an investment in research to more clearly identify measures of person-specific additional decline for ascertaining advanced dementia, inform practice guidelines to aid clinicians and service providers and identify specific markers that signal such additional decline and progression into advanced dementia among people with various levels of pre-existing intellectual impairment.

Cardiology - Cardiología

TÍTULO / TITLE:   - First trimester screening for major cardiac defects based on the ductus venosus flow in fetuses with trisomy 21.

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REVISTA / JOURNAL:    - Prenat Diagn. 2018 Apr 16. doi: 10.1002/pd.5268.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5268

AUTORES / AUTHORS: - Wagner P; et al

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynaecology, University of Tuebingen, Tubingen, Germany. 

RESUMEN / SUMMARY: - To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (congenital cardiac defect [CHD]) and whether this affects the risk distribution in first trimester screening for T21. METHODS: This retrospective study included pregnant women who underwent first trimester screening. This involves an examination of the crown-rump length, the nuchal translucency, the ductus venosus (DV) flow, and the heart. Three groups of fetuses were examined: euploid without CHD, T21 with CHD, and T21 without CHD. We examined the DV pulsatility index for veins, the direction of the a-wave, and ratios of velocities: v/S, v/D, a/S, a/D, and S/D. RESULTS: The study population consisted of 410 euploid fetuses and 136 with T21 (51 with CHD and 85 without CHD). In the 3 groups, the a-wave was reversed in 3.2%, 66.7%, and 57.6%. The DV flow ratios in T21 with and without CDH were significantly different compared with normal fetuses. When comparing the ratios between the 2 T21 groups, only the a/S and a/D ratio were significantly different. The risk distributions in screening for T21 with and without CDH were similar. CONCLUSION: There are some small differences in the DV flow of T21 fetuses with and without CHD, but they are not clinically useful.

TÍTULO / TITLE:   - What Causes Pulmonary Arterial Hypertension in Down Syndrome With Congenital Heart Disease?

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REVISTA / JOURNAL:    - Circ J. 2018 May 25;82(6):1513-1514. doi: 10.1253/circj.CJ-18-0471. Epub 2018 May 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1253/circj.CJ-18-0471

AUTORES / AUTHORS: - Hosokawa S; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Tokyo Medical and Dental University 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection.

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REVISTA / JOURNAL:    - Genes (Basel). 2018 Apr 12;9(4). pii: genes9040208. doi: 10.3390/genes9040208.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/genes9040208

AUTORES / AUTHORS: - Pan X; et al

INSTITUCIÓN / INSTITUTION: - College of Life Science, Shanghai University, Shanghai 200444, China. 

RESUMEN / SUMMARY: - Atrioventricular septal defect (AVSD) is a clinically significant subtype of congenital heart disease (CHD) that severely influences the health of babies during birth and is associated with Down syndrome (DS). Thus, exploring the differences in functional genes in DS samples with and without AVSD is a critical way to investigate the complex association between AVSD and DS. In this study, we present a computational method to distinguish DS patients with AVSD from those without AVSD using the newly proposed self-normalizing neural network (SNN). First, each patient was encoded by using the copy number of probes on chromosome 21. The encoded features were ranked by the reliable Monte Carlo feature selection (MCFS) method to obtain a ranked feature list. Based on this feature list, we used a two-stage incremental feature selection to construct two series of feature subsets and applied SNNs to build classifiers to identify optimal features. Results show that 2737 optimal features were obtained, and the corresponding optimal SNN classifier constructed on optimal features yielded a Matthew’s correlation coefficient (MCC) value of 0.748. For comparison, random forest was also used to build classifiers and uncover optimal features. This method received an optimal MCC value of 0.582 when top 132 features were utilized. Finally, we analyzed some key features derived from the optimal features in SNNs found in literature support to further reveal their essential roles.

TÍTULO / TITLE:   - Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension.

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REVISTA / JOURNAL:    - Med J Malaysia. 2018 Apr;73(2):119-120.

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AUTORES / AUTHORS: - Norazah Z; Joyce Darshinee DS

INSTITUCIÓN / INSTITUTION: - University of Malaya, Faculty of Medicine, Department of Pediatric, Pediatric Cardiology Unit, Kuala Lumpur, Malaysia. 

RESUMEN / SUMMARY: - Pulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a Down Syndrome infant with congenital heart disease and transient myeloproliferative leukaemia. This case-report aims to improve awareness among physicians and sonographers of this disease and the importance of pulmonary vein assessment in congenital heart disease with unexplained pulmonary hypertension.

TÍTULO / TITLE:   - Sex differences for major congenital heart defects in Down Syndrome: A population based study.

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REVISTA / JOURNAL:    - Eur J Med Genet. 2018 May 9. pii: S1769-7212(18)30229-5. doi: 10.1016/j.ejmg.2018.05.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejmg.2018.05.013

AUTORES / AUTHORS: - Santoro M; et al

INSTITUCIÓN / INSTITUTION: - Institute of Clinical Physiology, National Research Council, Pisa, Italy; Fondazione Toscana “Gabriele Monasterio”, Pisa, Italy.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period). CHDs associated with DS were detected both from the registry and the hospital discharge data. Sex differences in total CHDs and ASD, VSD, AVSD, severe CHDs, ToF subgroups were investigated. Relative Risks between males and females (RRMF) with p-values and 95% confidence interval (95% CI) were estimated. RRMF of CHD in infants with DS was compared to RRMF in infants without DS. The ratio between relative risks (RRR) was estimated. RESULTS: A total of 230 live birth cases of DS were analyzed, with a prevalence of 5.70 per 10,000 births. Sex ratioMF was 1.3. One hundred and one DS cases (43.9%) were associated with at least one CHD. Among them, CHDs are more frequent in females (total CHD: RRMF=0.62; 95% CI: 0.46-0.83, ASD: RRMF=0.40; 95% CI: 0.21-0.77, severe CHD: RRMF=0.58; 95% CI: 0.35-0.95, AVSD: RRMF=0.57; 95% CI: 0.32-1.00, VSD: RRMF=0.59; 95% CI: 0.35-1.00). Four cases of ToF were observed (all males). Sex difference was more evident in DS than in non-DS infants (RRR=0.63; 95% CI: 0.52-0.77), in particular for severe CHDs (RRR=0.38; 95% CI: 0.25-0.57). CONCLUSION: The increased sex difference for CHDs in DS suggests a possible role of sex as effect modifier in the association between DS and CHD. The results enforce the evidence on sex differences for CHDs in DS and can stimulate future genetic research activities.

Dental - Dental

TÍTULO / TITLE:   - Clinical Guidelines for Implant Treatment in Patients with Down Syndrome.

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REVISTA / JOURNAL:    - Int J Periodontics Restorative Dent. 2018 Mar 28. doi: 10.11607/prd.3284.

Enlace a la Editora de la Revista http://dx.doi.org/10.11607/prd.3284

AUTORES / AUTHORS: - De Bruyn H et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - This study evaluated implant outcome in patients with Down syndrome (DSPs) and provides clinical guidelines to maximize treatment outcome. A total of 57 implants were placed in eight DSPs. During follow-up, implant survival was recorded and crestal bone level was evaluated when possible. After a mean follow-up time of 5 years, six patients with 45 implants were evaluated and an implant survival rate of 84.4% was recorded. A mean crestal bone loss of 1.7 mm (SD 0.9) was measured in three patients around 20 implants. Down syndrome is not a contraindication to dental implant placement, but multiple complicating factors yield reduced implant survival.

TÍTULO / TITLE:   - The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy.

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REVISTA / JOURNAL:    - J Clin Pediatr Dent. 2018 May 11. doi: 10.17796/1053-4628-42.4.11.

Enlace a la Editora de la Revista http://dx.doi.org/10.17796/1053-4628-42.4.11

AUTORES / AUTHORS: - Bimstein E, Miskovich C

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - This manuscript describes a case of a 4-year-old child with Down syndrome involving hypotonia in which the use of sweets to induce oral muscular function contributed to the need to extract all the primary teeth due to extensive caries. The need for interdisciplinary education and practice targeted to the treatment of children with special health care needs is emphasized.

TÍTULO / TITLE:   - Possible association between obesity and periodontitis in patients with Down syndrome.

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REVISTA / JOURNAL:    - Med Oral. Free access to the article (immediately). http://dx.doi.org/10.4317/medoral.22311

Enlace a la Editora de la Revista http://www.medicinaoral.com/volu.htm

AUTORES / AUTHORS: - Culebras-Atienza E; et al

INSTITUCIÓN / INSTITUTION: - Dentistry and Medicine Faculty, University of Valencia, C/ Gasco Oliag n 1, Valencia 46010, España, 

RESUMEN / SUMMARY: - BACKGROUND: The present study was carried out to evaluate the possible association between obesity and periodontitis in patients with DS, and to explore which measure of obesity is most closely correlated to periodontitis. MATERIAL AND METHODS: A prospective observational study was made to determine whether obesity is related to periodontal disease in patients with DS. The anthropometric variables were body height and weight, which were used to calculate BMI and stratify the patients into three categories: < 25(normal weight), 25-29.9 (overweight) and >/= 30.0 kg/m2 (obese). Waist circumference and hip circumference in turn was recorded as the greatest circumference at the level of the buttocks, while the waist/hip ratio (WHR) was calculated. Periodontal evaluation was made of all teeth recording the plaque index (PI), pocket depth (PD), clinical attachment level (CAL) and the gingival index. We generated a multivariate linear regression model to examine the relationship between PD and the frequency of tooth brushing, gender, BMI, WHI, WHR, age and PI. RESULTS: Significant positive correlations were observed among the anthropometric parameters BMI, WHR, WHI and among the periodontal parameters PI, PD, CAL and GI. The only positive correlation between the anthropometric and periodontal parameters corresponded to WHR. Upon closer examination, the distribution of WHR was seen to differ according to gender. Among the women, the correlation between WHR and the periodontal variables decreased to nonsignificant levels. In contrast, among the males the correlation remained significant and even increased. In a multivariate linear regression model, the coefficients relating PD to PI, WHR and age were positive and significant in all cases. CONCLUSIONS: Our results suggest that there may indeed be an association between obesity and periodontitis in male patients with DS. Also, we found a clear correlation with WHR, which was considered to be the ideal adiposity indicator in thi

TÍTULO / TITLE:   - Periodontal disease in patients with Down syndrome: A systematic review.

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REVISTA / JOURNAL:    - J Am Dent Assoc. 2018 May 17. pii: S0002-8177(18)30173-9. doi: 10.1016/j.adaj.2018.03.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.adaj.2018.03.010

AUTORES / AUTHORS: - Scalioni FAR et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The authors systematically reviewed the scientific evidence of an association between periodontal disease and Down syndrome (DS). TYPES OF STUDIES REVIEWED: In this systematic review, the authors included observational studies in which the investigators assessed the prevalence, incidence, or experience of periodontal disease in patients with DS compared with that in healthy patients. The authors used the Population, Exposure, Comparison, Outcome structure. The population was patients of any age, the exposure was the presence of DS, the comparison was the absence of DS, and the outcome was the presence of periodontal disease. The authors conducted an electronic search in 5 databases through March 2017. Two independent reviewers assessed the risk of bias by using the Fowkes and Fulton scale. The authors performed a meta-analysis to compare periodontal disease among patients with DS and those without DS. The authors calculated a summary effect measure-standard mean difference-when evaluating the means of the oral hygiene index. The authors assessed the strength of evidence from the selected studies by using a modified Grading of Recommendations Assessment, Development and Evaluation system. RESULTS: The authors included 23 case-control studies in the systematic review and submitted 3 to meta-analysis. In the qualitative analysis, results from most studies showed that the prevalence of some periodontal parameters was higher among patients with DS than among those without DS. Evaluations of the Fowkes and Fulton scale point to many methodological problems in the studies evaluated. Results of the meta-analysis revealed no differences between groups with regard to the oral hygiene index (standard mean difference, 0.05; 95% confidence interval, -0.55 to 0.65; I(2) = 0.0%). CONCLUSIONS AND PRACTICAL IMPLICATIONS: Further research is required, in particular well-designed studies that avoid the deficiencies identified in the studies in this review.

Dermatology - Dermatología

TÍTULO / TITLE:   - Hidradenitis Suppurativa Associated with Down Syndrome Is Characterized by Early Age at Diagnosis.

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REVISTA / JOURNAL:    - Dermatology. 2018 Apr 24:1-5. doi: 10.1159/000487799.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000487799

AUTORES / AUTHORS: - Giovanardi G; et al.

INSTITUCIÓN / INSTITUTION: - Institute of Dermatology, Catholic University, Rome, Italy. x 

RESUMEN / SUMMARY: - The association between hidradenitis suppurativa (HS) and multiple comorbidities has been widely investigated but data about the coexistence of Down syndrome (DS) are scarce. We sought to evaluate the prevalence of DS among a population of HS patients and assess their clinical features. METHODS: We collected demographic and clinical data of patients affected with HS referred to three Italian outpatient dermatology clinics. RESULTS: A total of 257 HS patients were enrolled, 62% females and 38% males (mean age [+/-SD]: 23.3 +/- 10.7 years); 9 of the 257 patients (3.5%), 7 females and 2 males, had concomitant HS and DS. The patients with DS and HS had a significantly earlier age of onset (mean age: 14.3 +/- 3.6 vs. 23.4 +/- 12.31 years; p = 0.029), a significantly younger age at diagnosis (mean age: 21.1 +/- 11.1 vs. 31.8 +/- 13.5 years; p = 0.015), and were significantly younger (mean age: 23.3 +/- 10.7 vs. 34.6 +/- 13.07 years; p = 0.005). No significant differences about other clinical data were found between the two groups. CONCLUSION: The prevalence of DS in HS patients corresponds to a not negligible 3.5% of cases, who experienced an onset of HS at a younger age compared to patients with HS only.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Diagnosis and management of conductive hearing loss in children with trisomy 21.

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REVISTA / JOURNAL:    - J Paediatr Child Health. 2018 May 22. doi: 10.1111/jpc.14065.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jpc.14065

AUTORES / AUTHORS: - Stewart R et al

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Craigavon Area Hospital, Craigavon, Northern Ireland. 

RESUMEN / SUMMARY: - AIM: The objective of this study is to review the prevalence and degree of hearing loss in children with trisomy 21, their response to intervention and the presence of concomitant pathologies. The project will also highlight the experiences of the children from their parents’ and guardians’ perspective and the link between perceived service quality and an objective improvement in their hearing after rehabilitation. METHODS: All patients with trisomy 21 who were referred to district general otolaryngology outpatient clinics between 2014 and 2016 were included. A retrospective analysis of the medical notes and audiograms along with a qualitative questionnaire to the children’s parents was utilised to gather the information. RESULTS: The study showed that 77% (17/22) of children suffered from hearing loss, with a moderate degree being most prevalent. The majority of patients (14/17, 82%) were managed conservatively, undergoing a period of watchful waiting (9/17, 53%) or receiving hearing aids (5/17, 30%) and 3 of 17 (17%) were managed with grommet insertion. The improvement in hearing with hearing aids was comparable with grommet insertion and hearing aids scored highest in the post-intervention qualitative assessment with grommet insertion scoring the lowest. CONCLUSIONS: Functional hearing has been shown to be key in developing speech and language skills. In children with trisomy 21, behavioural and anatomical abnormalities make the diagnosis and intervention technically more challenging. This study demonstrates that in the absence of other otological symptoms, hearing loss can be managed effectively and with the least distress to the children with hearing aids.

TÍTULO / TITLE:   - Does the Visual Channel Improve the Perception of Consonants Produced by Speakers of French With Down Syndrome?

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REVISTA / JOURNAL:    - J Speech Lang Hear Res. 2018 Apr 17;61(4):957-972. doi: 10.1044/2017_JSLHR-H-17-0112.

Enlace a la Editora de la Revista http://dx.doi.org/10.1044/2017_JSLHR-H-17-0112

AUTORES / AUTHORS: - Hennequin A; et al

INSTITUCIÓN / INSTITUTION: - Univ. Grenoble Alpes, CNRS, Grenoble INP, GIPSA-lab, 38000 Grenoble, France. 

RESUMEN / SUMMARY: - This work evaluates whether seeing the speaker’s face could improve the speech intelligibility of adults with Down syndrome (DS). This is not straightforward because DS induces a number of anatomical and motor anomalies affecting the orofacial zone. Method: A speech-in-noise perception test was used to evaluate the intelligibility of 16 consonants (Cs) produced in a vowel-consonant-vowel context (Vo = /a/) by 4 speakers with DS and 4 control speakers. Forty-eight naive participants were asked to identify the stimuli in 3 modalities: auditory (A), visual (V), and auditory-visual (AV). The probability of correct responses was analyzed, as well as AV gain, confusions, and transmitted information as a function of modality and phonetic features. Results: The probability of correct response follows the trend AV > A > V, with smaller values for the DS than the control speakers in A and AV but not in V. This trend depended on the C: the V information particularly improved the transmission of place of articulation and to a lesser extent of manner, whereas voicing remained specifically altered in DS. Conclusions: The results suggest that the V information is intact in the speech of people with DS and improves the perception of some phonetic features in Cs in a similar way as for control speakers. This result has implications for further studies, rehabilitation protocols, and specific training of caregivers. Supplemental Material: https://doi.org/10.23641/asha.6002267.

TÍTULO / TITLE:   - The Role of Functional Respiratory Imaging in Treatment Selection of Children With Obstructive Sleep Apnea and Down Syndrome.

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REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 Apr 15;14(4):651-659. doi: 10.5664/jcsm.7064.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7064

AUTORES / AUTHORS: - Slaats MALJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University Hospital Antwerp, Antwerp, Belgium. 

RESUMEN / SUMMARY: - STUDY OBJECTIVES: The complexity of the pathogenesis of obstructive sleep apnea (OSA) in children with Down syndrome (DS) is illustrated by a prevalence of residual OSA after adenotonsillectomy. The aim of this study was to investigate whether upper airway imaging combined with computation fluid dynamics could characterize treatment outcome after adenotonsillectomy in these children. METHODS: Children with DS and OSA were prospectively included. All children underwent an evaluation of the upper airway and an ultra-low dose computed tomography scan of the upper airway before adenotonsillectomy. The upper airway tract was extracted from the scan and combined with computational fluid dynamics. Results were evaluated using control polysomnography after adenotonsillectomy. RESULTS: Thirty-three children were included: 18 boys, age 4.3 +/- 2.3 years, median body mass index z-score 0.6 (-2.9 to 3.0), and median obstructive apnea-hypopnea index was 15.7 (3-70) events/h. The minimal upper airway cross-sectional area was significantly smaller in children with more severe OSA (P = .03). Nineteen children underwent a second polysomnography after adenotonsillectomy. Seventy-nine percent had persistent OSA (obstructive apneahypopnea index > 2 events/h). A greater than 50% decrease in obstructive apnea-hypopnea index was observed in 79% and these children had a significantly higher volume of the regions below the tonsils. CONCLUSIONS: This is the first study to characterize treatment outcome in children with DS and OSA using computed tomography upper airway imaging. At baseline, children with more severe OSA had a smaller upper airway. Children with a less favorable response to adenotonsillectomy had a smaller volume of regions below the tonsils, which could be due to enlargement of the lingual tonsils, glossoptosis, or macroglossia. COMMENTARY: A commentary on this article appears in this issue on page 501.

TÍTULO / TITLE:   - Prevalence of Obstructive Sleep Apnea in Children With Down Syndrome: A Meta-Analysis.

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REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 May 15;14(5):867-875. doi: 10.5664/jcsm.7126.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7126

AUTORES / AUTHORS: - Lee CF; et al

INSTITUCIÓN / INSTITUTION: - Speech Language Pathologist, Child Developmental Assessment and Intervention Center, Taipei City Hospital, Taipei, Taiwan. 

RESUMEN / SUMMARY: - STUDY OBJECTIVES: To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. METHODS: Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were “Down syndrome,” “Trisomy 21,” “OSA,” “sleep apnea syndromes,” “polysomnography” and “polygraphy.” The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1.5, 2, 5, and 10 event/h was estimated using a random-effects model. Subgroup analyses were conducted for children in different countries, sample size, study year, and risk of bias. Finally, the prevalence of OSA was compared between two types of sleep studies (polysomnography versus polygraphy). RESULTS: A total of 18 studies (1,200 children) were included (mean age: 7.7 years; 56% boys; mean sample size: 67 patients). Five studies had low risk of bias, and nine and four studies had moderate and high risk of bias, respectively. The OSA was evaluated through polygraphy in 2 studies, and polysomnography in 16 studies. For children who underwent polysomnography, the prevalences of OSA based on AHI> 1, 1.5, 2, 5, and 10 events/h were 69%, 76%, 75%, 50%, and 34%, respectively. Subgroup analyses revealed no significant difference among all subgroups. Meta-regression showed that AHI > 5 events/h was inversely correlated with age (P < .001). Moreover, the prevalence of OSA based on AHI> 1.5 events/h was lower in polygraphy compared with polysomnography (59% versus 76%, P = .037). CONCLUSIONS: OSA is highly prevalent in children with Down syndrome. Prevalence of moderate to severe OSA is higher in younger age.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - The prevalence of obesity in children and young people with Down syndrome.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2018 May 15. doi: 10.1111/jar.12465.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12465

AUTORES / AUTHORS: - O Shea M; et al

INSTITUCIÓN / INSTITUTION: - General Practitioner Training Scheme, Institute of Technology Tralee, Tralee, Ireland. 

RESUMEN / SUMMARY: - Overweight and obesity is a growing concern among individuals with intellectual disabilities; however, little is known about the prevalence among children and youth with Down syndrome (CYDS). The purpose of this study was to determine the prevalence of overweight/obesity among CYDS in South West Ireland. METHODS: This cross-sectional study measured height and weight of 61 CYDS aged 4-16 years. Body mass index (BMI) was calculated and percentage body fat (PBF) was measured using bio-electrical impendence analysis (BIA). RESULTS: Using the International Obesity Task Force BMI cut-offs, 51.6% of males and 40% of females were overweight/obese compared to 32% and 14.8%, respectively, using PBF. The mean PBF for males was 18.76 versus females 22.38 (p < .05). There is a higher prevalence of overweight/obesity, particularly in males, compared to the general population of children. CONCLUSIONS: The difference in estimation of overweight/obesity between BMI and BIA has implications for research and clinical practice.

TÍTULO / TITLE:   - Thyroid Disorders in Subjects with Down Syndrome: An Update.

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REVISTA / JOURNAL:    - Acta Biomed. 2018 Mar 27;89(1):132-139.

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AUTORES / AUTHORS: - Amr NH;

INSTITUCIÓN / INSTITUTION: - Department of Paediatrics Ain Shams University, Cairo, Egypt.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the commonest chromosomal disorder among live born infants. DS is associated with increased risk of endocrine abnormalities particularly thyroid gland disorders. The spectrum of thyroid dysfunction in patients with DS include congenital hypothyroidism, subclinical hypothyroidism, acquired hypothyroidism (autoimmune - non autoimmune), and hyperthyroidism. This review will focus on the characteristics of the different presentations of thyroid abnormalities in DS, screening and management recommendations.

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

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REVISTA / JOURNAL:    - Eur J Med Genet. 2018 May 19. pii: S1769-7212(18)30154-X. doi: 10.1016/j.ejmg.2018.05.012.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejmg.2018.05.012

AUTORES / AUTHORS: - Best KE;... Rankin J;

INSTITUCIÓN / INSTITUTION: - Institute of Health & Society, Newcastle University, Newcastle Upon Tyne, UK.  

RESUMEN / SUMMARY: - Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England and Wales by 2020. Cases of spina bifida and Down syndrome born during 1998-2013 were identified from the Northern Congenital Abnormality Survey and the National Down Syndrome Cytogenetic Register, respectively. The number of infants born with spina bifida during 1998-2019 were estimated by applying the average prevalence rate in the North of England to actual and projected births in England and Wales. Poisson regression was performed to estimate the number of infants born with Down syndrome in England and Wales during 1998-2013 and 2004-2019. The numbers of children aged 0-15 living with spina bifida or Down syndrome in 2014 and in 2020 were then estimated by multiplying year- and age-specific survival estimates by the number of affected births. An estimated 956 children with isolated spina bifida, 623 children with spina bifida and hydrocephalus and 11,592 children with Down syndrome aged 0-15 years will be living in England and Wales by 2020, increases of 7.2%, 12.0% and 12.7% since 2014, respectively. Due to improvements in survival, an increase in population size and changes in maternal age distribution at delivery, we anticipate further increases in the number of children living with spina bifida or Down syndrome by 2020.

TÍTULO / TITLE:   - Sex differences for major congenital heart defects in Down Syndrome: A population based study.

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REVISTA / JOURNAL:    - Eur J Med Genet. 2018 May 9. pii: S1769-7212(18)30229-5. doi: 10.1016/j.ejmg.2018.05.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejmg.2018.05.013

AUTORES / AUTHORS: - Santoro M; et al

INSTITUCIÓN / INSTITUTION: - Institute of Clinical Physiology, National Research Council, Pisa, Italy; Fondazione Toscana “Gabriele Monasterio”, Pisa, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period). CHDs associated with DS were detected both from the registry and the hospital discharge data. Sex differences in total CHDs and ASD, VSD, AVSD, severe CHDs, ToF subgroups were investigated. Relative Risks between males and females (RRMF) with p-values and 95% confidence interval (95% CI) were estimated. RRMF of CHD in infants with DS was compared to RRMF in infants without DS. The ratio between relative risks (RRR) was estimated. RESULTS: A total of 230 live birth cases of DS were analyzed, with a prevalence of 5.70 per 10,000 births. Sex ratioMF was 1.3. One hundred and one DS cases (43.9%) were associated with at least one CHD. Among them, CHDs are more frequent in females (total CHD: RRMF=0.62; 95% CI: 0.46-0.83, ASD: RRMF=0.40; 95% CI: 0.21-0.77, severe CHD: RRMF=0.58; 95% CI: 0.35-0.95, AVSD: RRMF=0.57; 95% CI: 0.32-1.00, VSD: RRMF=0.59; 95% CI: 0.35-1.00). Four cases of ToF were observed (all males). Sex difference was more evident in DS than in non-DS infants (RRR=0.63; 95% CI: 0.52-0.77), in particular for severe CHDs (RRR=0.38; 95% CI: 0.25-0.57). CONCLUSION: The increased sex difference for CHDs in DS suggests a possible role of sex as effect modifier in the association between DS and CHD. The results enforce the evidence on sex differences for CHDs in DS and can stimulate future genetic research activities.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Hypoechoic liver in fetuses with trisomy 21.

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REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Apr 9:1-3. doi: 10.1080/14767058.2018.1459556.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1459556

AUTORES / AUTHORS: - Omar PM; et al

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynaecology , Fetal Medicine Unit, Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong. 

RESUMEN / SUMMARY: - The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.

Genetics - Genética

TÍTULO / TITLE:   - Young mothers and higher incidence of maternal meiosis-I non- disjunction: Interplay of environmental exposure and genetic alterations during halt phase in trisomy 21.

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REVISTA / JOURNAL:    - Reprod Toxicol. 2018 Apr 25;79:1-7. doi: 10.1016/j.reprotox.2018.04.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.reprotox.2018.04.014

AUTORES / AUTHORS: - Saiyed N.... Bakshi S;

INSTITUCIÓN / INSTITUTION: - Institute of Science, Nirma University, S.G Highway, Ahmedabad, Gujarat, 382481, India. 

RESUMEN / SUMMARY: - Trisomy 21 is a genetic condition caused when chromosomes fail to separate during meiosis. We have studied conventional karyotype and QF-PCR using STR markers with high polymorphism and heterogeneity and the results were analyzed, to determine the paternal and meiotic origin of trisomy 21. This study was conducted using a detailed questionnaire to include: paternal, maternal, clinical and family history for various confounding factors such as age and regional environmental exposures where the parents resided. Out of 120 samples 95% (N=114) were of maternal origin, including 92% (N=105) of meiosis 1 errors and 8% (N=9) meiosis 2 errors. Paternal origin accounted for 5% (N=6) and were all due to meiosis-I errors. The higher incidence of maternal meiosis-I observed in the present study suggests that human trisomy 21 non-disjunction is a result of multiple factors contributing to the origin of the genetic condition.

TÍTULO / TITLE:   - Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells.

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REVISTA / JOURNAL:    - Front Genet. 2018 Apr 24;9:125. doi: 10.3389/fgene.2018.00125. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fgene.2018.00125

AUTORES / AUTHORS: - Pelleri MC; et al

INSTITUCIÓN / INSTITUTION: - Department of Experimental, Diagnostic and Specialty Medicine, Unit of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification of genes contributing to DS pathogenesis could be the key to any rational therapy of the associated intellectual disability. We aim at generating quantitative transcriptome maps in DS integrating all gene expression profile datasets available for any cell type or tissue, to obtain a complete model of the transcriptome in terms of both expression values for each gene and segmental trend of gene expression along each chromosome. We used the TRAM (Transcriptome Mapper) software for this meta-analysis, comparing transcript expression levels and profiles between DS and normal brain, lymphoblastoid cell lines, blood cells, fibroblasts, thymus and induced pluripotent stem cells, respectively. TRAM combined, normalized, and integrated datasets from different sources and across diverse experimental platforms. The main output was a linear expression value that may be used as a reference for each of up to 37,181 mapped transcripts analyzed, related to both known genes and expression sequence tag (EST) clusters. An independent example in vitro validation of fibroblast transcriptome map data was performed through “Real-Time” reverse transcription polymerase chain reaction showing an excellent correlation coefficient (r = 0.93, p < 0.0001) with data obtained in silico. The availability of linear expression values for each gene allowed the testing of the gene dosage hypothesis of the expected 3:2 DS/normal ratio for Hsa21 as well as other human genes in DS, in addition to listing genes differentially expressed with statistical significance. Although a fraction of Hsa21 genes escapes dosage effects, Hsa21 genes are selectively over-expressed in DS samples compared to genes from other chromosomes, reflecting a decisive role in the pathogenesis of the syndrome. Finally, the analysis of chromosomal segments reveals a high prevalence of Hsa21 over-expressed segments over the

TÍTULO / TITLE:   - Integrative analyses of genes and microRNA expressions in human trisomy 21 placentas.

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REVISTA / JOURNAL:    - BMC Med Genomics. 2018 May 9;11(1):46. doi: 10.1186/s12920-018-0361-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12920-018-0361-y

AUTORES / AUTHORS: - Lim JH; ... Cho YH;

INSTITUCIÓN / INSTITUTION: - Department of Medical Genetics, College of Medicine, Hanyang University, 222, Wangsimni-ro, Seongdong-gu, Seoul, 04763, South Korea. 

RESUMEN / SUMMARY: - The most frequent chromosomal aneuploidy is trisomy 21 (T21) that is caused by an extra copy of chromosome 21. The imbalance of whole genome including genes and microRNAs contributes to the various phenotypes of T21. However, the integrative association between genes and microRNAs in the T21 placenta has yet to be determined. METHODS: We analyzed the expressions of genes and microRNAs in the whole genomes of chorionic villi cells from normal and T21 human fetal placentas based on our prior studies. The functional significances and interactions of the genes and microRNAs were predicted using bioinformatics tools. RESULTS: Among 110 genes and 34 microRNAs showing significantly differential expression between the T21 and normal placentas, the expression levels of 17 genes were negatively correlated with those of eight microRNAs in the T21 group. Of these 17 genes, 10 with decreased expression were targeted by five up-regulated microRNAs, whereas seven genes with increased expression were targeted by three down-regulated microRNAs. These genes were significantly associated with hydrogen peroxide-mediated programmed cell death, cell chemotaxis, and protein self-association. They were also associated with T21 and its accompanying abnormalities. The constructed interactive signaling network showed that seven genes (three increased and four decreased expressions) were essential components of a dynamic signaling complex (P = 7.77e-16). CONCLUSIONS: In this study, we have described the interplay of genes and microRNAs in the T21 placentas and their modulation in biological pathways related to T21 pathogenesis. These results may therefore contribute to further research about the interaction of genes and microRNAs in disease pathogenesis.

TÍTULO / TITLE:   - Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin.

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REVISTA / JOURNAL:    - Clin Case Rep. 2018 Mar 7;6(5):788-791. doi: 10.1002/ccr3.1424. eCollection 2018 May.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ccr3.1424

AUTORES / AUTHORS: - Hochstenbach R et al

INSTITUCIÓN / INSTITUTION: - Department of Genetics University Medical Centre Utrecht Utrecht The Netherlands. 

RESUMEN / SUMMARY: - One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell-free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false-positive outcome for a normal, viable twin. We show that a vanishing trisomy-14 twin contributes to cfDNA for more than 2 weeks after demise.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Bone Mineral Density Distribution Curves in Spanish Adults With Down Syndrome.

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REVISTA / JOURNAL:    - J Clin Densitom. 2018 Mar 21. pii: S1094-6950(17)30169-5. doi: 10.1016/j.jocd.2018.03.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jocd.2018.03.001

AUTORES / AUTHORS: - Costa R; et al

INSTITUCIÓN / INSTITUTION: - Adult Down Syndrome Outpatient Clinic, Department of Internal Medicine, Instituto de Investigacion Sanitaria-Princesa (IIS-IP), Hospital Universitario de La Princesa, Madrid, España. 

RESUMEN / SUMMARY: - According to reports from small-sized case series, adults with Down syndrome (DS) appear to have lower bone mineral density (BMD) than the general population. The objective of our study was to further characterize the bone mass acquisition curve in an adult DS population. This is a retrospective study of 297 adults with DS from the Adult Down Syndrome Outpatient Clinic of a tertiary care hospital in Madrid, España, who underwent a bone densitometry (Hologic QDR-4500W), for clinical purposes between January 2010 and June 2015. The mean age of our sample population was 34 yr (+/-10.9); 51% were women. Bone mass peak was reached earlier and was lower than the general population (around 20-25 yr), with almost parallel curves. The mean BMD was 0.715 +/- 0.12 g/cm(2) in femoral neck (FN) and 0.872 +/- 0.11 g/cm(2) in lumbar spine (LS). According to FN scores, 52% of the subjects were classified as osteopenic and 18% as osteoporotic. According to LS scores, frequencies were 54% and 25%, respectively. BMD was considered inadequate for the age (Z-score < -2 standard deviation) in 18% of the subjects at FN and 40% at LS. BMD at LS was significantly lower in males than in females (52% vs 38%, p < 0.001). Male DS subjects had a 2.58-fold (95% confidence interval: 1.57-4.25) higher risk of developing reduced BMD at LS than females. Persons with DS reach the bone mass peak earlier and this bone mass is lower than the general population. Among subjects with DS, male gender is a risk factor for developing low BMD, especially at LS.

TÍTULO / TITLE:   - Pediatric Brain Development in Down Syndrome: A Field in Its Infancy.

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REVISTA / JOURNAL:    - J Int Neuropsychol Soc. 2018 May 23:1-11. doi: 10.1017/S1355617718000206.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S1355617718000206

AUTORES / AUTHORS: - Hamner T; et al

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

RESUMEN / SUMMARY: - As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome (DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmental framework. METHODS: A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development. RESULTS: The majority of DS structural neuroimaging studies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidence for smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accounted for, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostly large effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to be largely deviant in adolescence. An examination of age-frontal GM relations using effect sizes from published studies and data from Lee et al. (2016) reveals that while there is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS. CONCLUSIONS: Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhood and adolescence. (JINS, 2018, 24, 1-11).

TÍTULO / TITLE:   - The prevalence of obesity in children and young people with Down syndrome.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2018 May 15. doi: 10.1111/jar.12465.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12465

AUTORES / AUTHORS: - O Shea M; et al

INSTITUCIÓN / INSTITUTION: - General Practitioner Training Scheme, Institute of Technology Tralee, Tralee, Ireland. 

RESUMEN / SUMMARY: - BACKGROUND: Overweight and obesity is a growing concern among individuals with intellectual disabilities; however, little is known about the prevalence among children and youth with Down syndrome (CYDS). The purpose of this study was to determine the prevalence of overweight/obesity among CYDS in South West Ireland. METHODS: This cross-sectional study measured height and weight of 61 CYDS aged 4-16 years. Body mass index (BMI) was calculated and percentage body fat (PBF) was measured using bio-electrical impendence analysis (BIA). RESULTS: Using the International Obesity Task Force BMI cut-offs, 51.6% of males and 40% of females were overweight/obese compared to 32% and 14.8%, respectively, using PBF. The mean PBF for males was 18.76 versus females 22.38 (p < .05). There is a higher prevalence of overweight/obesity, particularly in males, compared to the general population of children. CONCLUSIONS: The difference in estimation of overweight/obesity between BMI and BIA has implications for research and clinical practice.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Epigenetic Therapy in a Patient With Down Syndrome and Refractory Acute Myeloid Leukemia.

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2018 Apr 17. doi: 10.1097/MPH.0000000000001158.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000001158

AUTORES / AUTHORS: - Becktell K; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Division of Hematology/Oncology/Blood and Marrow Transplantation, Medical College of Wisconsin/Children’s Hospital of Wisconsin. 

RESUMEN / SUMMARY: - Acute myeloid leukemia (AML) associated with Down syndrome (DS-AML) is a unique entity of AML with superior treatment response and overall survival compared with children with non-DS-AML. Despite good outcomes in DS-AML, those who relapse or have refractory disease have poor survival. Successful treatment of these patients is challenged by increased incidence of treatment-related toxicities often encountered with high-dose chemotherapy. Here we report the experience of epigenetic modifying agents (decitabine and vorinostat) followed by fludarabine, cytarabine, and granulocyte colony stimulating growth factor for a child with refractory DS-AML. This combination was well tolerated and resulted in a brief clinical response.

TÍTULO / TITLE:   - Successful Treatment of Osteosarcoma Without Methotrexate in a 13-Year-Old Boy With Down Syndrome.

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2018 May 10. doi: 10.1097/MPH.0000000000001212.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000001212

AUTORES / AUTHORS: - Sims E et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX. 

RESUMEN / SUMMARY: - Osteosarcoma is the most common primary bone tumor in children, and only 1 article in the literature describes a case of osteosarcoma in a patient with Down syndrome. Although osteosarcoma is generally treated with chemotherapy regimens that include high-dose methotrexate, patients with Down syndrome have heightened sensitivity to the toxicities of methotrexate. The patient from the aforementioned case study died from sepsis soon after treatment with high-dose methotrexate. This case report describes the successful treatment of osteosarcoma in a pediatric patient with Down syndrome without methotrexate.

TÍTULO / TITLE:   - Late mortality and morbidity among long-term leukemia survivors with Down syndrome: A nationwide population-based cohort study.

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2018 May 24:e27249. doi: 10.1002/pbc.27249.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pbc.27249

AUTORES / AUTHORS: - Vonasek J et al, Heyman M;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark. 

RESUMEN / SUMMARY: - Late health consequences of treatment for childhood leukemia are well documented. Although individuals with Down syndrome (DS) have a substantially increased risk of leukemia, information on late effects in this group is almost nonexistent. The aim of this study was to evaluate the mortality and morbidity among 5-year leukemia survivors with DS. PROCEDURE: We compared 5-year leukemia survivors with leukemia-free individuals with DS. All individuals born with DS in Denmark between 1960 and 2007 and in Sweden between 1973 and 2009 were included. Long-term morbidity was estimated by comparing hospitalization rates between survivors and leukemia-free individuals. RESULTS: In total, we found 6,705 individuals with DS, 84 of whom were 5-year survivors of leukemia. Survivors had a higher risk of death (hazard ratio [HR] 5.9; 95% confidence interval [CI]: 2.7-13) compared with leukemia-free individuals. All deaths (n = 7) among 5-year leukemia survivors were due to relapse. Survivors had a higher hospitalization rate (HR 4.4; 95% CI: 3.1-6.2). However, most of these hospitalizations were due to relapse. Censoring individuals who either had a relapse or were being treated for a relapse more than 5 years from the initial diagnosis (n = 9) attenuated the association (HR 1.4; 95% CI: 1.0-2.1). CONCLUSION: In this study, we found that relapse was the main reason for death and hospitalization among leukemia survivors with DS, and not late effects. These results are reassuring for individuals treated for DS associated with leukemia and their parents.

TÍTULO / TITLE:   - Downregulation of Endothelin Receptor B Contributes to Defective B Cell Lymphopoiesis in Trisomy 21 Pluripotent Stem Cells.

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REVISTA / JOURNAL:    - Sci Rep. 2018 May 22;8(1):8001. doi: 10.1038/s41598-018-26123-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-018-26123-y

AUTORES / AUTHORS: - MacLean GA; ... Orkin SH;

INSTITUCIÓN / INSTITUTION: - Division of Hematology/Oncology, Boston Children’s Hospital and Dana Farber Cancer Institute, Harvard Medical School Boston, MA, 02115, Boston, USA 

RESUMEN / SUMMARY: - Individuals with Trisomy 21 (T21) exhibit numerous hematological abnormalities, including reductions in numbers of circulating B and T lymphocytes. To elucidate molecular mechanisms underlying these phenotypes, we differentiated human isogenic disomic and trisomic pluripotent cells, and observed that trisomic cells showed defects in B cell, but not T cell differentiation. Global gene expression of differentiated, trisomic B cells revealed reduced expression of genes encoding endothelin signaling components, namely the Endothelin Receptor B (EDNRB), and its ligand Endothelin1 (EDN1). Depletion of EDNRB mRNA in cord blood-derived CD34(+) cells led to defective B cell differentiation, supporting a hypothesis that low EDNRB expression in T21 contributes to intrinsic lymphoid defects. Further evidence for the role of the EDNRB pathway in B cell differentiation was obtained through CRISPR/Cas9 gene targeting in disomic and trisomic iPS cells. Knockout of EDNRB in both cell backgrounds reduced the capacity for B cell differentiation. Collectively, this work identifies downregulation of EDNRB as a causative factor for impaired B lymphocyte generation in trisomic cells, which may contribute to defects in immune function associated with T21. Furthermore, a novel role for endothelin signaling in regulation of B cell development has been identified.

TÍTULO / TITLE:   - Hypoechoic liver in fetuses with trisomy 21.

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REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Apr 9:1-3. doi: 10.1080/14767058.2018.1459556.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1459556

AUTORES / AUTHORS: - Omar PM; et al

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynaecology , Fetal Medicine Unit, Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong.; 

RESUMEN / SUMMARY: - The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Anti-IL17 treatment ameliorates Down syndrome phenotypes in mice.

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REVISTA / JOURNAL:    - Brain Behav Immun. 2018 May 16. pii: S0889-1591(18)30179-X. doi: 10.1016/j.bbi.2018.05.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.bbi.2018.05.008

AUTORES / AUTHORS: - Rueda N .... Martinez-Cue C;

INSTITUCIÓN / INSTITUTION: - Department of Physiology and Pharmacology, Faculty of Medicine, University of Cantabria, Santander, España 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer’s disease (AD)-associated neuropathology (i.e., beta-amyloid (Abeta) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology. In AD mouse models, increased neuroinflammation appears earlier than Abeta plaques and NFTs, and in DS and AD models, neuroinflammation exacerbates the levels of soluble and insoluble Abeta species, favoring neurodegeneration. The Ts65Dn (TS) mouse, the most commonly used murine model of DS, recapitulates many alterations present in both DS and AD individuals, including enhanced neuroinflammation. In this study, we observed an altered neuroinflammatory milieu in the hippocampus of the TS mouse model. Pro-inflammatory mediators that were elevated in the hippocampus of this model included pro-inflammatory cytokine IL17A, which has a fundamental role in mediating brain damage in neuroinflammatory processes. Here, we analyzed the ability of an anti-IL17A antibody to reduce the neuropathological alterations that are present in TS mice during early neurodevelopmental stages (i.e., hippocampal neurogenesis and hypocellularity) or that are aggravated in later-life stages (i.e., cognitive abilities, cholinergic neuronal loss and increased cellular senescence, APP expression, Abeta peptide expression and neuroinflammation). Administration of anti-IL17 for 5 months, starting at the age of 7 months, partially improved the cognitive abilities of the TS mice, reduced the expression of several pro-inflammatory cytokines and the density of activated microglia and normalized the APP and Abeta1

TÍTULO / TITLE:   - Palivizumab use in infants with Down syndrome-report from the German Synagis Registry 2009-2016.

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REVISTA / JOURNAL:    - Eur J Pediatr. 2018 Jun;177(6):903-911. doi: 10.1007/s00431-018-3142-x. Epub 2018 Apr 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-018-3142-x

AUTORES / AUTHORS: - Simon A et al

INSTITUCIÓN / INSTITUTION: - Institutes for Medical Biometry, Epidemiology and Medical Informatics (IMBEI), Campus Homburg, Saarland University, Homburg, Germany. 

RESUMEN / SUMMARY: - Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P < 0.001) and 1590 versus 2750 g, respectively (P < 0.001). Patients with DS significantly more often had congenital heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. CONCLUSION: Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: * Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: * Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. * In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

TÍTULO / TITLE:   - Streptococcus bovis - unusual etiology of meningitis in a neonate with Down syndrome: a case report.

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REVISTA / JOURNAL:    - J Med Case Rep. 2018 Apr 12;12(1):93. doi: 10.1186/s13256-018-1634-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13256-018-1634-y

AUTORES / AUTHORS: - Mettananda S et al

INSTITUCIÓN / INSTITUTION: - Colombo North Teaching Hospital, Ragama, 11010, Sri Lanka. 

RESUMEN / SUMMARY: - Common etiological agents of neonatal meningitis include group B Streptococcus, Escherichia coli, and Staphylococcus aureus. Here we report a rare pathogen - Streptococcus bovis - causing meningitis in a premature neonate with Down syndrome. CASE PRESENTATION: A 26-day-old Asian male neonate with Down syndrome presented with a history of high-grade fever, poor sucking, poor cry, and reduced activity. On admission, he was febrile and had features of circulatory collapse. A cerebrospinal fluid examination confirmed bacterial meningitis and blood culture isolated the causative organism: group D Streptococcus, which was verified as Streptococcus bovis biotype 2. An echocardiogram did not show evidence of infective endocarditis. CONCLUSIONS: This is probably the first report of neonatal meningitis due to Streptococcus bovis in a child with Down syndrome. Although our patient did not show features of overt immunodeficiency, subtle abnormalities in his immune system would have predisposed him to infection with this unusual organism. This case highlights the need for considering unusual pathogens when managing serious infections in children with Down syndrome.

TÍTULO / TITLE:   - Pathogen-Specific Binding Soluble Down Syndrome Cell Adhesion Molecule (Dscam) Regulates Phagocytosis via Membrane-Bound Dscam in Crab.

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REVISTA / JOURNAL:    - Front Immunol. 2018 Apr 18;9:801. doi: 10.3389/fimmu.2018.00801. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2018.00801

AUTORES / AUTHORS: - Li XJ; et al

INSTITUCIÓN / INSTITUTION: - Laboratory of Invertebrate Immunological Defense and Reproductive Biology, School of Life Sciences, East China Normal University, Shanghai, China. 

RESUMEN / SUMMARY: - The Down syndrome cell adhesion molecule (Dscam) gene is an extraordinary example of diversity that can produce thousands of isoforms and has so far been found only in insects and crustaceans. Cumulative evidence indicates that Dscam may contribute to the mechanistic foundations of specific immune responses in insects. However, the mechanism and functions of Dscam in relation to pathogens and immunity remain largely unknown. In this study, we identified the genome organization and alternative Dscam exons from Chinese mitten crab, Eriocheir sinensis. These variants, designated EsDscam, potentially produce 30,600 isoforms due to three alternatively spliced immunoglobulin (Ig) domains and a transmembrane domain. EsDscam was significantly upregulated after bacterial challenge at both mRNA and protein levels. Moreover, bacterial specific EsDscam isoforms were found to bind specifically with the original bacteria to facilitate efficient clearance. Furthermore, bacteria-specific binding of soluble EsDscam via the complete Ig1-Ig4 domain significantly enhanced elimination of the original bacteria via phagocytosis by hemocytes; this function was abolished by partial Ig1-Ig4 domain truncation. Further studies showed that knockdown of membrane-bound EsDscam inhibited the ability of EsDscam with the same extracellular region to promote bacterial phagocytosis. Immunocytochemistry indicated colocalization of the soluble and membrane-bound forms of EsDscam at the hemocyte surface. Far-Western and coimmunoprecipitation assays demonstrated homotypic interactions between EsDscam isoforms. This study provides insights into a mechanism by which soluble Dscam regulates hemocyte phagocytosis via bacteria-specific binding and specific interactions with membrane-bound Dscam as a phagocytic receptor.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - The effect of long-term treatment with coenzyme Q10 on nucleic acid modifications by oxidation in children with Down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Aging. 2018 Jul;67:159-161. doi: 10.1016/j.neurobiolaging.2018.03.001. Epub 2018 Mar 15.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2018.03.001

AUTORES / AUTHORS: - Larsen EL; Poulsen HE et al

INSTITUCIÓN / INSTITUTION: - Laboratory of Clinical Pharmacology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Pharmacology, Bispebjerg Frederiksberg Hospital, University of Copenhagen, Copenhagen, Denmark; Department of Clinica 

RESUMEN / SUMMARY: - Elevated levels of oxidative nucleic acid modifications have been proposed to be associated with some of the clinical characteristics of Down syndrome. Oral intake of coenzyme Q10 improves oxidative status and shows a tendency toward protective effect on DNA oxidation in certain age groups of children with Down syndrome. Here, we demonstrate that long-term (i.e., 4 years) treatment with coenzyme Q10 (ubiquinone) at the dosage of 4 mg/kg/d does not affect whole body DNA and RNA oxidation.

TÍTULO / TITLE:   - Preliminary study of protein changes in trisomy 21 fetus by proteomics analysis in amniocyte.

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REVISTA / JOURNAL:    - Prenat Diagn. 2018 May;38(6):435-444. doi: 10.1002/pd.5259. Epub 2018 Apr 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5259

AUTORES / AUTHORS: - Liu H et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.;  

RESUMEN / SUMMARY: - To discover the candidate biomarker proteins of trisomy 21 (T21) in amniocytes. METHODS: Amniocentesis was performed to collect amniotic fluid from women who underwent prenatal diagnosis due to high risk of T21 at 18th to 22nd week of gestation. Amniocyte samples were collected, and karyotyping analysis was used to confirm the chromosomal status (18 samples of T21 amniocytes and 20 samples of chromosomally normal ones). Then, backup samples for cytogenetic test were used in this study. Two-dimensional gel electrophoresis and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry were employed for proteomic analysis. Subsequently, western blotting and biological informatic analysis were utilized to validate the identified proteins and their functions. RESULTS: Six proteins were found to be significantly up regulated in T21 amniocytes, and they were calumenin, nucleophosmin, elongation factor 1-beta, cathepsin D, platelet-activating factor acetylhydrolase IB subunit beta, and 14-3-3 protein beta/alpha identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Western blotting analysis confirmed the alterations of nucleophosmin and cathepsin D. CONCLUSION: These proteins may be involved in the pathogenesis of T21. Further studies exploring the exact role of these proteins were essential.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Anti-IL17 treatment ameliorates Down syndrome phenotypes in mice.

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REVISTA / JOURNAL:    - Brain Behav Immun. 2018 May 16. pii: S0889-1591(18)30179-X. doi: 10.1016/j.bbi.2018.05.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.bbi.2018.05.008

AUTORES / AUTHORS: - Rueda N .... Martinez-Cue C;

INSTITUCIÓN / INSTITUTION: - Department of Physiology and Pharmacology, Faculty of Medicine, University of Cantabria, Santander, España. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer’s disease (AD)-associated neuropathology (i.e., beta-amyloid (Abeta) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology. In AD mouse models, increased neuroinflammation appears earlier than Abeta plaques and NFTs, and in DS and AD models, neuroinflammation exacerbates the levels of soluble and insoluble Abeta species, favoring neurodegeneration. The Ts65Dn (TS) mouse, the most commonly used murine model of DS, recapitulates many alterations present in both DS and AD individuals, including enhanced neuroinflammation. In this study, we observed an altered neuroinflammatory milieu in the hippocampus of the TS mouse model. Pro-inflammatory mediators that were elevated in the hippocampus of this model included pro-inflammatory cytokine IL17A, which has a fundamental role in mediating brain damage in neuroinflammatory processes. Here, we analyzed the ability of an anti-IL17A antibody to reduce the neuropathological alterations that are present in TS mice during early neurodevelopmental stages (i.e., hippocampal neurogenesis and hypocellularity) or that are aggravated in later-life stages (i.e., cognitive abilities, cholinergic neuronal loss and increased cellular senescence, APP expression, Abeta peptide expression and neuroinflammation). Administration of anti-IL17 for 5 months, starting at the age of 7 months, partially improved the cognitive abilities of the TS mice, reduced the expression of several pro-inflammatory cytokines and the density of activated microglia and normalized the APP and Abeta1

TÍTULO / TITLE:   - Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome.

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REVISTA / JOURNAL:    - Dis Model Mech. 2018 Apr 30. pii: dmm.031013. doi: 10.1242/dmm.031013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1242/dmm.031013

AUTORES / AUTHORS: - Aziz NM... Bianchi DW

INSTITUCIÓN / INSTITUTION: - Dis Model Mech. 2018 Apr 30. pii: dmm.031013. doi: 10.1242/dmm.031013. 

RESUMEN / SUMMARY: - Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in achieving developmental milestones. To determine whether different mouse models of DS recapitulate the human prenatal and postnatal phenotypes, here we directly compared brain histogenesis, gene expression, and behavior over the lifespan of three cytogenetically distinct mouse models of DS: Ts1Cje, Ts65Dn and Dp(16)1/Yey. Histological data indicated that Ts65Dn mice were the most consistently affected with respect to somatic growth, neurogenesis, and brain morphogenesis. Embryonic and adult gene expression results showed that Ts1Cje and Ts65Dn brains had considerably more differentially expressed (DEX) genes compared to Dp(16)1/Yey mice, despite the larger number of triplicated genes in the latter model. In addition, DEX genes showed little overlap in identity and chromosomal distribution in the three models, leading to dissimilarities in affected functional pathways. Perinatal and adult behavioral testing also highlighted differences among the models in their abilities to achieve various developmental milestones and perform hippocampal- and motor-based tasks. Interestingly, Dp(16)1/Yey mice showed no abnormalities in prenatal brain phenotypes, yet they manifested behavioral deficits starting at postnatal day 15 that continued through adulthood. In contrast, Ts1Cje mice showed mildly abnormal embryonic brain phenotypes, but only select behavioral deficits as neonates and adults. Altogether, our data showed widespread and unexpected fundamental differences in behavioral, gene expression, and brain development phenotypes between these three mouse models. Our findings illustrate unique limitations of each model when studying aspects of brain development and function in DS. Th

Neurology - Neurología

TÍTULO / TITLE:   - Pediatric Brain Development in Down Syndrome: A Field in Its Infancy.

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REVISTA / JOURNAL:    - J Int Neuropsychol Soc. 2018 May 23:1-11. doi: 10.1017/S1355617718000206.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S1355617718000206

AUTORES / AUTHORS: - Hamner T; et al

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

RESUMEN / SUMMARY: - As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome (DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmental framework. METHODS: A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development. RESULTS: The majority of DS structural neuroimaging studies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidence for smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accounted for, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostly large effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to be largely deviant in adolescence. An examination of age-frontal GM relations using effect sizes from published studies and data from Lee et al. (2016) reveals that while there is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS. CONCLUSIONS: Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhood and adolescence. (JINS, 2018, 24, 1-11).

TÍTULO / TITLE:   - Levodopa-Responsive Early-Onset Parkinsonism in Down Syndrome.

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REVISTA / JOURNAL:    - Case Rep Neurol Med. 2018 Feb 15;2018:2314791. doi: 10.1155/2018/2314791. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/2314791

AUTORES / AUTHORS: - Palat P et al.

INSTITUCIÓN / INSTITUTION: - Children’s Hospital Colorado, 13123 E. 16th Ave., Aurora, CO 80045, USA. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) can develop Alzheimer’s disease as early as 30 to 40 years old, but parkinsonism is rarely described. We report on a 20-year-old woman with Down syndrome and parkinsonism who responded dramatically to carbidopa-levodopa. We propose that the occurrence of parkinsonism in individuals with DS may be underreported. Recognizing and treating this condition may improve quality of life.

TÍTULO / TITLE:   - Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.

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REVISTA / JOURNAL:    - PLoS Genet. 2018 May 10;14(5):e1007383. doi: 10.1371/journal.pgen.1007383. eCollection 2018 May.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pgen.1007383

AUTORES / AUTHORS: - Watson-Scales S; et al.

INSTITUCIÓN / INSTITUTION: - The Francis Crick Institute, London, United Kingdom. 

RESUMEN / SUMMARY: - Down Syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and results in a spectrum of phenotypes including learning and memory deficits, and motor dysfunction. It has been hypothesized that an additional copy of a few Hsa21 dosage-sensitive genes causes these phenotypes, but this has been challenged by observations that aneuploidy can cause phenotypes by the mass action of large numbers of genes, with undetectable contributions from individual sequences. The motor abnormalities in DS are relatively understudied-the identity of causative dosage-sensitive genes and the mechanism underpinning the phenotypes are unknown. Using a panel of mouse strains with duplications of regions of mouse chromosomes orthologous to Hsa21 we show that increased dosage of small numbers of genes causes locomotor dysfunction and, moreover, that the Dyrk1a gene is required in three copies to cause the phenotype. Furthermore, we show for the first time a new DS phenotype: loss of motor neurons both in mouse models and, importantly, in humans with DS, that may contribute to locomotor dysfunction.

TÍTULO / TITLE:   - Defects in nerve conduction velocity and different muscle fibre-type specificity contribute to muscle weakness in Ts1Cje Down syndrome mouse model.

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REVISTA / JOURNAL:    - PLoS One. 2018 May 24;13(5):e0197711. doi: 10.1371/journal.pone.0197711. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0197711

AUTORES / AUTHORS: - Bala U et al

INSTITUCIÓN / INSTITUTION: - Genetics and Regenerative Medicine Research Centre (GRMRC), Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.; 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disorder caused by presence of extra copy of human chromosome 21. It is characterised by several clinical phenotypes. Motor dysfunction due to hypotonia is commonly seen in individuals with DS and its etiology is yet unknown. Ts1Cje, which has a partial trisomy (Mmu16) homologous to Hsa21, is well reported to exhibit various typical neuropathological features seen in individuals with DS. This study investigated the role of skeletal muscles and peripheral nerve defects in contributing to muscle weakness in Ts1Cje mice. RESULTS: Assessment of the motor performance showed that, the forelimb grip strength was significantly (P<0.0001) greater in the WT mice compared to Ts1Cje mice regardless of gender. The average survival time of the WT mice during the hanging wire test was significantly (P<0.0001) greater compared to the Ts1Cje mice. Also, the WT mice performed significantly (P<0.05) better than the Ts1Cje mice in the latency to maintain a coordinated motor movement against the rotating rod. Adult Ts1Cje mice exhibited significantly (P<0.001) lower nerve conduction velocity compared with their aged matched WT mice. Further analysis showed a significantly (P<0.001) higher population of type I fibres in WT compared to Ts1Cje mice. Also, there was significantly (P<0.01) higher population of COX deficient fibres in Ts1Cje mice. Expression of Myf5 was significantly (P<0.05) reduced in triceps of Ts1Cje mice while MyoD expression was significantly (P<0.05) increased in quadriceps of Ts1Cje mice. CONCLUSION: Ts1Cje mice exhibited weaker muscle strength. The lower population of the type I fibres and higher population of COX deficient fibres in Ts1Cje mice may contribute to the muscle weakness seen in this mouse model for DS.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - The Outcomes of Posterior Arthrodesis for Atlantoaxial Subluxation in Down Syndrome Patients: A Meta-Analysis.

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REVISTA / JOURNAL:    - Clin Spine Surg. 2018 May 25. doi: 10.1097/BSD.0000000000000658.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/BSD.0000000000000658

AUTORES / AUTHORS: - Scollan JP; et al.

INSTITUCIÓN / INSTITUTION: - Downstate College of Medicine, State University of New York, Brooklyn, NY. 

RESUMEN / SUMMARY: - STUDY DESIGN: This is a meta-analysis. OBJECTIVE: To establish rates of (1) neurological complications, (2) bony-related complications, (3) complications delaying recovery, (4) reoperation, and (5) fatalities following posterior cervical arthrodesis in Down syndrome (DS) patients with atlantoaxial subluxation. To determine if presenting symptoms had any relationship to postoperative complications. SUMMARY OF BACKGROUND DATA: Posterior arthrodesis is commonly utilized to correct cervical instability secondary to atlantoaxial instability in DS patients. However, there has never been a global evaluation of postoperative complications associated with posterior cervical spinal arthrodesis in DS patients. METHODS: A comprehensive search of Medline/PubMed, EMBASE, and Ovid databases between January 1980 and July 2017 was utilized to identify DS patients with atlantoaxial subluxation who underwent posterior cervical arthrodesis. Data were sorted by neurological complications, complications delaying recovery, bony-related complications, reoperations, and fatalities. Patients were sorted into 2 groups based on presentation with or without neurological deficits. RESULTS: Twelve studies met inclusion criteria, including 128 DS patients. Mean age was 13.8 years (range: 6.7-32.7 y; 47.8% male). Mean follow-up was 31.7 months (range: 14.9-77 mo). All patients underwent primary posterior cervical arthrodesis with an average of 2.5 vertebrae fused. A total of 39.6% of patients had bony-related complications [95% confidence interval (CI), 31.4%-48.5%], 23.3% had neurological deficits (95% CI, 16.6%-31.6%), and 26.4% experienced complications delaying recovery (95% CI, 19.4%-34.9%). The reoperation rate was 34.9% (95% CI, 25.5%-45.6%). The mortality rate was 3.9% (95% CI, 1.5%-9.7%). Neurological complications were 4-fold (P<0.05) and reoperation was 5.5-fold (P<0.05) more likely in patients presenting with neurological deficits compared with those without. CONCLUSIONS: This study det

TÍTULO / TITLE:   - Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis.

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REVISTA / JOURNAL:    - Surgeon. 2018 May 23. pii: S1479-666X(18)30065-9. doi: 10.1016/j.surge.2018.04.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.surge.2018.04.008

AUTORES / AUTHORS: - Sha S;... Alshryda S;

INSTITUCIÓN / INSTITUTION: - Royal Manchester Children Hospital, Manchester, UK.  

RESUMEN / SUMMARY: - Trisomy 21 is the most common chromosomal disorders in humans; it is caused by an extra copy of chromosome number 21. This extra chromosomal material causes widespread abnormalities involving nearly every part of human body. Hip disorders are the second most serious musculoskeletal disorder in patients with T21 with a reported incidence between 2 and 28%. The outcomes of these hip disorders in patients with T21 are much less favorable than similar hip diagnoses in normal patients and a substantive number of these patients develop severe osteoarthritis that require total hip arthroplasty (THA). The outcome of THA in this cohort of patient is not well studied. METHODS: A modified Cochrane review methodology has been utilized in this review. An extended literature search was performed of the medical databases. A hierarchical approach was used to include relevant studies. Search, published papers and extracted data were checked by authors independently then jointly to ensure accuracy. RESULTS: Nine studies (321 patients with Trisomy 21) who underwent total hip arthroplasty (THA) were included. The functional hip scores (Harris and WOMAC hip scores) improved substantively after hip arthroplasty. The 5-year cumulative revision rate was 7.5%; twice as high as age matched control. Medical and surgical complications were 3 times higher than matched controls. CONCLUSION: Total hip arthroplasty can be offered to patients with T21 and severe arthritis although the increased revision and complication rates must be appreciated by patients and care givers.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Transitioning from level surface to stairs in children with and without Down syndrome: Locomotor adjustments during stair ascent.

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REVISTA / JOURNAL:    - Gait Posture. 2018 Apr 22;63:46-51. doi: 10.1016/j.gaitpost.2018.04.025.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.04.025

AUTORES / AUTHORS: - Liang H;,,, Wu J;

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology and Health, USA; Center for Pediatric Locomotion Sciences, Georgia State University, Atlanta, GA, 30302, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) often show underdeveloped motor ability and adaptation. Stair ascent is a common task to examine locomotor function and external ankle load is often used to perturb the stability of a system and observe the emergence of new patterns. RESEARCH QUESTION: How do stair height and external ankle load affect locomotor adjustments in 5-to-11-year-old children with typical development (TD) and with DS during stair ascent? METHODS: Fourteen children with DS and 14 age- and sex-matched children with TD participated in this study. They walked along a 5-m walkway and ascended 3-step staircases of different heights (low, moderate, and high) with or without ankle load. A 3D motion capture system was used for data collection. Dependent variables included stance time and toe-to-stair distance before stair ascent, and vertical toe clearance and horizontal toe velocity during stair ascent. Mixed ANOVAs with repeated measures were conducted for statistical analysis. RESULTS: The DS group presented a longer stance time and a shorter toe-to-stair distance than the TD group before stair ascent. External ankle load affected, to a greater extent, the DS group than the TD group in stance time and toe-to-stair distance. During stair ascent, while the TD group generally maintained toe clearance and decreased horizontal toe velocity with the increase of stair height, the DS group decreased toe clearance and maintained horizontal toe velocity. Particularly, the DS group displayed a greater toe clearance than the TD group in the LS condition but a smaller toe clearance in the HS condition. In addition, external ankle load increased toe clearance and decreased horizontal toe velocity in both groups. SIGNIFICANCE: Children with DS display underdeveloped locomotor adjustments during stair ascent. External ankle load appears to help the DS group regulate toe clearance and horizontal toe velocity for different stair heights.

TÍTULO / TITLE:   - Vertical stiffness and balance control of two-legged hopping in-place in children with and without Down syndrome.

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REVISTA / JOURNAL:    - Gait Posture. 2018 Apr 22;63:39-45. doi: 10.1016/j.gaitpost.2018.04.026.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.04.026

AUTORES / AUTHORS: - Beerse M; Wu J;

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology and Health, Georgia State University, Atlanta, GA, 30302, USA; Center for Pediatric Locomotion Sciences, Georgia State University, Atlanta, GA, 30302, USA 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are known for their reduced balance control, and typically take longer to develop motor skills and display less coordinated movement patterns. Hopping in-place is a gross motor skill requiring whole-body vertical stiffness and horizontal movement control, particularly when attempting to modify hopping frequency. However, there is a lack of knowledge of the hopping capacity of children with DS. RESEARCH QUESTION: The purpose of this study was to assess the ability of children with DS aged 5-11 years old to continuously hop in-place on two legs and compare their biomechanical patterns to those of typically developing (TD) children. METHODS: This observational study included 14 children with DS and 16 TD children. Subjects were asked to complete 20s trials of two-legged hopping in-place at a self-selected frequency, and four metronome guided conditions: preferred (self-selected frequency), moderate (20% increase), fast (40% increase) and slow (20% decrease). Two sample independent t-tests were conducted on whole-body vertical stiffness, horizontal center-of-mass movement, and toe displacement between hops for the self-selected hopping condition and two-way ANOVAs were used for the metronome conditions. RESULTS AND SIGNIFICANCE: Our findings suggest that children with DS might not be able to continuously hop in-place until the age of 7 years old, and were unable to hop for as long in duration as their TD peers. Children with DS self-selected a faster hopping frequency, and demonstrated an increased medial-lateral center-of-mass movement during the stance phase of hopping, suggesting reduced balance control. Moreover, children with DS were unable to correctly modify their hopping frequency when cued by a metronome and exhibited an inability to modulate whole-body vertical stiffness and constrain horizontal or vertical movement. These results demonstrate the utility of a future hopping intervention to improve whole-body vertical stiffness

TÍTULO / TITLE:   - The prevalence of the flat foot condition and insole prescription in people with Down’s syndrome: a retrospective population-based study.

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REVISTA / JOURNAL:    - J Phys Ther Sci. 2018 Apr;30(4):520-524. doi: 10.1589/jpts.30.520. Epub 2018 Apr 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.30.520

AUTORES / AUTHORS: - Kanai Y; et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Ibaraki Prefectural University of Health Sciences: 4669-2 Ami-machi Ami, Inashiki-gun, Ibaraki 300-0394, Japan. 

RESUMEN / SUMMARY: - The general approach for flat foot (FF) treatment in people with Down’s syndrome (DS) is the use of insoles. However, the appropriate timing of the first insole prescription remains unclear. An aim of this present research was to investigate the status of prevalence of FF and orthosis prescription in the DS population. [Subjects and Methods] Two hundred fifteen subjects with DS who were seen at our hospital were retrospectively investigated. Investigated parameters were: prevalence of FF and other foot diseases, ratio and timing of orthopaedic consultation, ratio and timing of orthoses prescription, and mean age at the time of orthosis prescription. [Results] The prevalence of FF was 27.0% (58 subjects), and 50 subjects (23.3%) consulted an orthopaedic surgeon. An orthosis was prescribed for 54 subjects; 88.9% of these orthoses were insoles. Foot and leg orthoses other than insoles were prescribed significantly more frequently for females than males. The mean ages at the time of the first prescription of all types of orthoses and an insole were 7.3 years and 6.4 years, respectively. [Conclusion] The prevalence of FF was low, and the age at which subjects with DS were prescribed an orthosis was relatively high at our institution compared to previous reports. Since physical therapists see patients who could potentially have FF, those with suspected FF should then be referred to an orthopaedic doctor, which would enable the earlier orthosis prescription.

TÍTULO / TITLE:   - Spinopelvic Alignment in Subjects With Down Syndrome.

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REVISTA / JOURNAL:    - Clin Spine Surg. 2018 May 25. doi: 10.1097/BSD.0000000000000655.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/BSD.0000000000000655

AUTORES / AUTHORS: - Assi A; ... Ghanem I

INSTITUCIÓN / INSTITUTION: - Hotel-Dieu de France Hospital, University of Saint-Joseph, Beirut, Lebanon. 

RESUMEN / SUMMARY: - This was a cross-sectional study. OBJECTIVE: The aim of this study was to describe the spinopelvic alignment of subjects with Down syndrome (DS). SUMMARY OF BACKGROUND DATA: Subjects with DS are known to suffer from a large prevalence of scoliosis. While scoliosis is known to significantly affect postural alignment, there are currently no studies on the spinopelvic alignment of subjects with DS. MATERIALS AND METHODS: In total, 41 subjects (28 female subjects and 13 male subjects) with DS, age and sex-matched to 41 asymptomatic subjects, underwent biplanar x-rays with 3-dimensional reconstructions of their spines and pelvises, followed by measurement of commonly used spinopelvic sagittal and coronal alignment parameters. Subjects were then classified into one of Roussouly’s 4 types of sagittal alignment. Alignment parameters and prevalence of alignment patterns were compared between the 2 groups. RESULTS: Subjects with DS were found to be relatively hypokyphotic (T4-T12=-29.0 vs. -37.5 degrees; P<0.001) and hyperlordotic (L1-L5=53.8 vs. 44.3 degrees; P<0.001) with larger pelvic incidence (53.2 vs. 45.1 degrees; P<0.001), sacral slope (47.7 vs. 36.8 degrees; P<0.001), Cobb angle (10.2 vs. 8.0 degrees; P=0.005), and axial rotation of the apical vertebra (6.6 vs. 3.7 degrees; P<0.001) but had smaller pelvic tilt (4.9 vs. 8.1 degrees; P<0.001) compared with control subjects. Roussouly’s type 4 was found to be the most frequent pattern in DS subjects (68.3% vs. 14.6%; P<0.001). CONCLUSIONS: Subjects with DS were found to have a peculiar pattern of hypokyphosis, hyperlordosis, large pelvic incidence, and small pelvic tilt. The altered spinopelvic alignment found in DS could predispose these subjects to hip instability and osteoarthritis. LEVEL OF EVIDENCE: Level III.

TÍTULO / TITLE:   - The Relationship between Shoe Fitting and Foot Health of Persons with Down Syndrome: A Case Control Study.

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2018 May 14;15(5). pii: ijerph15050983. doi: 10.3390/ijerph15050983

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/ijerph15050983

AUTORES / AUTHORS: - Calvo-Lobo C ... Rodriguez-Sanz D;

INSTITUCIÓN / INSTITUTION: - Physical therapy & Health Sciences Research Group Department, Faculty of Health, Exercise and Sport, European University of Madrid, Villaviciosa de Odon, 28670 Madrid, España. 

RESUMEN / SUMMARY: - Down syndrome is the most common chromosomal abnormality and a cause of intellectual disability. It is also associated with orthopaedic and musculoskeletal problems of the locomotive apparatus, especially of the feet. These problems are believed to have a harmful effect on health, social functioning, and mobility. In addition, these persons generally don’t have access to podiatric health services, even when their foot problems are well known, because of limited access to healthcare facilities. The goal of our research was to evaluate and compare the foot health status of study participants with and without Down syndrome and to determine whether inadequate footwear is being used with normalized reference values. Methods: A total of 105 participants with and without Down syndrome, with a mean age of 35.71 (SD = 12.93) years, were enrolled in the study. They self-reported demographic data and their clinical characteristic data were recorded. Measurements of their foot and shoe fitting were taken at all stages of the research process. Ninety-two percent of the participants with Down syndrome had foot problems. Results: Only 12 (24%) participants with Down syndrome used bilateral shoes that met the requirements of their feet compared to their controls (50 participants, 90.9% for the right foot; 46 participants, 83.6% for the left foot). Participants with Down syndrome presented statistically significant differences with respect to controls and wore incorrectly sized shoe. Conclusions: Evaluation of foot length and width may prevent development of foot deformities, as well as to improve general health.

TÍTULO / TITLE:   - Effects of electrostimulation associated with masticatory training in individuals with down syndrome. LINK: Link to its Abstract

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REVISTA / JOURNAL:    - Codas. 2018;30(3):e20170074. doi: 10.1590/2317-1782/20182017074. Epub 2018 May 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/2317-1782/20182017074

AUTORES / AUTHORS: - Pinheiro DLDSA; et al

INSTITUCIÓN / INSTITUTION: - Departamento de Fonoaudiologia, Centro de Ciencias da Saude, Universidade Federal da Paraiba, Joao Pessoa, PB, Brasil. 

RESUMEN / SUMMARY: - Purpose Investigate and measure the effects of electrostimulation on the orofacial musculature and on the chewing, breathing and swallowing functions of individuals with Down syndrome. Methods Study participants were 16 individuals with Down syndrome (six males and 10 females) from an institutional extension project aged nine to 25 years. Speech-language pathology assessment was performed using the protocol of Orofacial Myofunctional Evaluation with Scores (OMES) pre- and post-intervention. This protocol comprised eight weekly electrostimulation sessions. Functional Electrical Stimulation (FES) current was used at a frequency of 10Hz in warm-up and 30Hz in application, intermittent stimulation (cycling pulses) with ON-time of 5s and OFF-time of 10s common to both stages, and pulse width of 200mus in warm-up and 250mus in application. Results Significant differences were observed between pre- and post-application of FES regarding cheek appearance (flaccidity and arching), tongue mobility (right and left laterality), and musculature behavior during performance of functions of the stomatognathic system: respiration, deglutition (lip behavior), and mastication (bite and trituration). Conclusion Effects of electrostimulation associated with masticatory training of the masseter muscles were statistically identified, with functional gains in chewing, breathing and swallowing performance in individuals with Down syndrome.

TÍTULO / TITLE:   - Static postural control among school-aged youth with Down syndrome: A systematic review.

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REVISTA / JOURNAL:    - Gait Posture. 2018 May;62:426-433. doi: 10.1016/j.gaitpost.2018.03.027. Epub 2018 Mar 16.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.03.027

AUTORES / AUTHORS: - Maiano C; et al.

INSTITUCIÓN / INSTITUTION: - Cyberpsychology Laboratory, Department of Psychoeducation and Psychology, Universite du Quebec en Outaouais (UQO), Gatineau, Canada; Department of Psychoeducation and Psychology, Universite du Quebec en Outaouais (UQO), Saint-Jerome, Canada 

RESUMEN / SUMMARY: - Youth with Down syndrome are characterized by motor delays when compared to typically developing (TD) youth, which may be explained by a lower postural control or reduced postural tone. OBJECTIVE: In the present article, we summarize research comparing the static postural control, assessed by posturography, between youth with Down syndrome and TD youth. METHODS: A systematic literature search was performed in 10 databases and seven studies, published between 2001 and 2017, met our inclusion criteria. RESULTS: Based on the present reviewed findings, it is impossible to conclude that children with Down syndrome present significantly lower static postural control compared to TD children. In contrast, findings showed that adolescents with Down syndrome tended to present significantly lower static postural control compared to TD adolescents when visual and plantar cutaneous inputs were disturbed separately or simultaneously. CONCLUSION: The present findings should be interpreted with caution given the limitations of the small number of reviewed studies. Therefore, the static postural control among youth with Down syndrome should be further investigated in future rigorous studies examining the contribution of a range of sensory information.

TÍTULO / TITLE:   - Evaluation of upper limb movements in children with Down’s syndrome: A systematic review.

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REVISTA / JOURNAL:    - Infant Behav Dev. 2018 May;51:45-51. doi: 10.1016/j.infbeh.2018.03.001. Epub 2018 Apr 9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.infbeh.2018.03.001

AUTORES / AUTHORS: - Lopes JBP; et al.

INSTITUCIÓN / INSTITUTION: - Health Sciences Program, Faculty of Medical Sciences of Santa Casa de Sao Paulo, Brazil. 

RESUMEN / SUMMARY: - The aim of the present study was to perform a review of the literature on current quantitative clinical methods for the evaluation of upper limb movements in children and adolescents with Down syndrome, with a focus on describing the variables, protocols, motor function and motor control. METHODS: A survey of PubMed, Scielo, BVS Bireme and PEDro databases using the following key words: upper limb and EMG and Down syndrome; upper limb and kinematics and Down syndrome; upper limb and motion analysis and Down syndrome; movement and upper limb and Down syndrome; upper limb and Down syndrome; reach and Down syndrome. RESULTS: In all, 344 articles and five were selected to compose the present systematic review. No standardization was found among the studies analyzed with regard to data collection, data processing or procedures for the evaluation of the variables. CONCLUSION: A kinematic evaluation is effective for the discussion of the results, but methodological differences among the studies and inconsistent results exert a negative influence on clinical interpretations and the possibility of reproducibility. The standardization of an upper limb movement evaluation protocol using kinematic analysis is important, as it would provide the basis for comparable, reproducible results and facilitate the planning of treatment interventions.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Evaluation of machine learning algorithms for improved risk assessment for Down’s syndrome.

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REVISTA / JOURNAL:    - Comput Biol Med. 2018 May 4;98:1-7. doi: 10.1016/j.compbiomed.2018.05.004.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.compbiomed.2018.05.004

AUTORES / AUTHORS: - Koivu A; et al

INSTITUCIÓN / INSTITUTION: - University of Turku, Turun Yliopisto, Turku, Finland. 

RESUMEN / SUMMARY: - Prenatal screening generates a great amount of data that is used for predicting risk of various disorders. Prenatal risk assessment is based on multiple clinical variables and overall performance is defined by how well the risk algorithm is optimized for the population in question. This article evaluates machine learning algorithms to improve performance of first trimester screening of Down syndrome. Machine learning algorithms pose an adaptive alternative to develop better risk assessment models using the existing clinical variables. Two real-world data sets were used to experiment with multiple classification algorithms. Implemented models were tested with a third, real-world, data set and performance was compared to a predicate method, a commercial risk assessment software. Best performing deep neural network model gave an area under the curve of 0.96 and detection rate of 78% with 1% false positive rate with the test data. Support vector machine model gave area under the curve of 0.95 and detection rate of 61% with 1% false positive rate with the same test data. When compared with the predicate method, the best support vector machine model was slightly inferior, but an optimized deep neural network model was able to give higher detection rates with same false positive rate or similar detection rate but with markedly lower false positive rate. This finding could further improve the first trimester screening for Down syndrome, by using existing clinical variables and a large training data derived from a specific population.

TÍTULO / TITLE:   - Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results.

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REVISTA / JOURNAL:    - Eur J Obstet Gynecol Reprod Biol. 2018 May 1;226:35-39. doi: 10.1016/j.ejogrb.2018.04.042.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejogrb.2018.04.042

AUTORES / AUTHORS: - Hartwig TS; et al

INSTITUCIÓN / INSTITUTION: - Fetal Medicine Unit, Department of Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Denmark; Hvidovre Hospitals NIPT Center, Copenhagen University Hospital Hvidovre, Denmark. 

RESUMEN / SUMMARY: - We have established an open source platform for non-invasive prenatal testing (NIPT) based on massively parallel whole-genome sequencing in a public setting. The objective of this study was to investigate factors of importance for correct interpretation of NIPT results to ensure a high sensitivity and specificity. STUDY DESIGN: This investigation is a retrospective case-control study performed in a public NIPT center. The study included 108 aneuploid cases and 165 euploid controls. MPS was performed on circulating cell-free DNA in maternal blood. The pipeline included automated library preparation and sequencing on a HiSeq1500 (Illumina). The software programmes WISECONDOR and SeqFF were used for data analysis of aneuploidy status and fetal fraction of cell-free DNA, respectively. Lower limit of fetal fraction for aneuploidy testing was 0.02. RESULTS: We identified four false negative aneuploidy cases of which two were explained by a vanishing twin. The number of no-call cases due to low fetal fraction was 8 out of 273 (2.9%). The sensitivity and specificity, when no-calls and vanished twins were excluded, were 100% and 99.5% for T21, 91% and 99.2% for T18, and 100% and 99.6% for T13. By multiple regression analysis we found a significant association between fetal fraction and gestational age, maternal BMI and ART treatment. CONCLUSION: With a non-commercial open source NIPT set-up having the same high test-performance as reported by large private laboratories, we show that fetal fraction, a vanishing twin, BMI, gestational age and ART treatment are important factors in the interpretation of NIPT results.

TÍTULO / TITLE:   - Termination of pregnancy following a prenatal diagnosis of Down syndrome: a qualitative study of the decision-making process of pregnant couples.

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REVISTA / JOURNAL:    - Acta Obstet Gynecol Scand. 2018 May 23. doi: 10.1111/aogs.13386.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/aogs.13386

AUTORES / AUTHORS: - Lou S; et al.

INSTITUCIÓN / INSTITUTION: - DEFACTUM - Public Health & Health Services Research, Central Denmark Region, Aarhus.;Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus.  

RESUMEN / SUMMARY: - In Denmark, first trimester screening has a very high uptake (>90%). If Down syndrome is diagnosed, termination rates are high (>95%). The aim of this study was to investigate the timing of the decision of termination of pregnancy following a Down syndrome diagnosis and the factors influencing this decision MATERIAL AND METHODS: Semi-structured, qualitative interview study with 21 couples who had received a prenatal diagnosis of Down syndrome and decided to terminate the pregnancy. Participants were recruited from obstetric departments between February 2016 and July 2017. Data were analysed using thematic analysis RESULTS: Five themes were identified: ‘initial decision-making’, ‘consolidating the decision’ ‘reasons and concerns shaping the termination of pregnancy decision’, ‘the right decision is also burdensome’ and, ‘perceived influences in decision-making’. For most couples, an initial termination of pregnancy decision was made before or during the diagnostic process, but it was re-addressed and consolidated following the actual diagnosis. Imagining a family future with a severely affected Down syndrome child was the main factor influencing the termination of pregnancy decision. The decision was articulated as ‘right’ but also as existentially burdensome for some due to fear of regret and concern about ending a potential life. The termination of pregnancy decision was considered a private matter between the couple, but was refined through interactions with clinicians and social network CONCLUSION: All couples made an initial decision prior to receiving the Down syndrome diagnosis. Knowledge of the couple’s initial decision may facilitate patient-centred communication during and after the diagnostic process. Couples may benefit from counselling to deal with grief and existential concerns. This article is protected by copyright. All rights reserved.

TÍTULO / TITLE:   - Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers.

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REVISTA / JOURNAL:    - Obstet Gynecol Int. 2018 Mar 8;2018:9687042. doi: 10.1155/2018/9687042. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/9687042

AUTORES / AUTHORS: - Chaksuwat P; et al

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

RESUMEN / SUMMARY: - Objective: To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Methods: Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. Results: The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Conclusion: Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.

TÍTULO / TITLE:   - Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India.

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REVISTA / JOURNAL:    - Turk J Obstet Gynecol. 2018 Mar;15(1):18-22. doi: 10.4274/tjod.56244. Epub 2018 Mar 29.

Enlace a la Editora de la Revista http://dx.doi.org/10.4274/tjod.56244

AUTORES / AUTHORS: - Asim A, Agarwal S

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be used as an alternative method for prenatal diagnosis of DS. SD-QF-PCR involves SD sequences between the test and control chromosomes to detect aneuploidies. SD are two similar sequences with different fragment lengths, located on two different chromosomes. When these SD regions are amplified, the peak ratio between the two different chromosomes remains as 0.9 to 1.1 and the trisomy 21 results in the ratio of 1.4 to 1.6. Materials and Methods: In this study, we applied SD-QF-PCR to detect the presence of trisomy 21 in 60 age-matched controls and 60 DS samples. The PCR amplification of SD regions is performed using a single pair of fluorescent-labelled primers, the peak ratio between the two different chromosome regions are evaluated. Results: All sixty control samples showed the peaks to range from 0.9 to 1.1, which was suggestive of normal samples, and peaks of 65 DS samples ranged from 1.4 to 1.6, which suggested the presence of trisomy 21. Conclusion: Segmental duplication quantitative fluorescent PCR is a sensitive and rapid aneuploidy detection technique and hence can be used as a standalone test to detect trisomy 21 as well as other aneuploidies.

TÍTULO / TITLE:   - Psychosocial Factors of Health Professionals’ Intention to Use a Decision Aid for Down Syndrome Screening: Cross-Sectional Quantitative Study.

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REVISTA / JOURNAL:    - J Med Internet Res. 2018 Apr 25;20(4):e114. doi: 10.2196/jmir.9036.

Enlace a la Editora de la Revista http://dx.doi.org/10.2196/jmir.9036

AUTORES / AUTHORS: - Abbasgholizadeh Rahimi S et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Decisions about prenatal screening for Down syndrome are difficult for women, as they entail risk, potential loss, and regret. Shared decision making increases women’s knowledge of their choices and better aligns decisions with their values. Patient decision aids foster shared decision making but are rarely used in this context. OBJECTIVE: One of the most promising strategies for implementing shared decision making is distribution of decision aids by health professionals. We aimed to identify factors influencing their intention to use a DA during prenatal visit for decisions about Down syndrome screening. METHODS: We conducted a cross-sectional quantitative study. Using a Web panel, we conducted a theory-based survey of health professionals in Quebec province (Canada). Eligibility criteria were as follows: (1) family physicians, midwives, obstetrician-gynecologists, or trainees in these professions; (2) involved in prenatal care; and (3) working in Quebec province. Participants watched a video depicting a health professional using a decision aid during a prenatal consultation with a woman and her partner, and then answered a questionnaire based on an extended version of the theory of planned behavior, including some of the constructs of the theoretical domains framework. The questionnaire assessed 8 psychosocial constructs (attitude, anticipated regret, subjective norm, self-identity, moral norm, descriptive norm, self-efficacy, and perceived control), 7 related sets of behavioral beliefs (advantages, disadvantages, emotions, sources of encouragement or discouragement, incentives, facilitators, and barriers), and sociodemographic data. We performed descriptive, bivariate, and multiple linear regression analyses to identify factors influencing health professionals’ intention to use a decision aid. RESULTS: Among 330 health professionals who completed the survey, 310 met the inclusion criteria: family physicians, 55.2% (171/310); obstetrician-gynecologists, 33.8% (105

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Beyond the floor effect on the WISC-IV in individuals with Down syndrome: are there cognitive strengths and weaknesses?

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jul;62(7):593-603. doi: 10.1111/jir.12499. Epub 2018 Apr 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12499

AUTORES / AUTHORS: - Pezzuti L.... Orsini A;

INSTITUCIÓN / INSTITUTION: - Department of Dynamic and Clinical Psychology, Sapienza University of Rome (Italy), Rome, Italy. 

RESUMEN / SUMMARY: - Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. METHOD: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened. RESULTS: Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. The results, using traditional transformation, confirm a deep cognitive impairment of those with Down syndrome. Conversely, using the new statistical method, it is immediately apparent that the variability of the scores, both on subtests and indices, is wider with respect to the traditional method. CONCLUSION: Children with Down syndrome show a greater ability in the Verbal Comprehension Index than in the Working Memory Index.

TÍTULO / TITLE:   - Behavioral Problems and Psychosocial Strengths: Unique Factors Contributing to the Behavioral Profile of Youth With Down Syndrome.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2018 May;123(3):212-227. doi: 10.1352/1944-7558-123.3.212.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-123.3.212

AUTORES / AUTHORS: - Dieleman LM; et al.

INSTITUCIÓN / INSTITUTION: - Lisa M. Dieleman, Sarah S.W. De Pauw, Bart Soenens, and Geert Van Hove, Ghent University, Belgium; and. 

RESUMEN / SUMMARY: - This study aimed to describe problem behaviors and psychosocial strengths, examine the problem-strength interrelations, and evaluate profiles of problems and strengths in youth with Down syndrome (DS). The community-based sample consisted of 67 parents of children with DS aged between 4 and 19 years. Parents reported about the developmental age (Vineland screener), behavioral problems (Child Behavior Checklist), and psychosocial strengths (Behavioral and Emotional Rating Scale) of their child. Results indicate that attention, social, and thought problems were most prevalent, whereas family involvement and receiving/expressing affection were identified as strengths. A confirmatory factor analysis identified problems and strengths as distinct, yet related, variables. Moreover, a cluster analysis of problems and strengths identified four different profiles. Implications for interventions are discussed.

TÍTULO / TITLE:   - Joint attention in Down syndrome: A meta-analysis.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2018 Jul;78:89-102. doi: 10.1016/j.ridd.2018.03.013. Epub 2018 May 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2018.03.013

AUTORES / AUTHORS: - Hahn LJ; et al.

INSTITUCIÓN / INSTITUTION: - University of Illinois at Urbana-Champaign, Department of Speech & Hearing Science, 901 South Sixth St. MC-482, Champaign, IL, 61820, United States 

RESUMEN / SUMMARY: - Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. AIM: To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). METHODS AND PROCEDURES: Journal articles published before September 13, 2016, were identified by using the search terms “Down syndrome” and “joint attention” or “coordinating attention”. Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. OUTCOMES AND RESULTS: Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. CONCLUSIONS AND IMPLICATIONS: Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - An assessment of health, social, communication, and daily living skills of adults with Down syndrome.

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REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Jun;176(6):1389-1397. doi: 10.1002/ajmg.a.38721. Epub 2018 Apr 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38721

AUTORES / AUTHORS: - Matthews TJ et al.

INSTITUCIÓN / INSTITUTION: - Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio. 

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) are surviving longer, yet data delineating life skills are lacking. As providers are encouraged to provide a “balanced” description of DS to family members/caregivers, more quantitative data are required to accurately describe the abilities and potential of adults with DS. This study assessed health, social, communication, and daily living skills of adults with DS to describe the range of abilities and to show how increasing age contributes to functional abilities. Caregivers of an adult with DS 20 years of age or older participated in an online questionnaire. Descriptive statistics and scores from scales assessed relationships between the number of health issues reported and functional abilities, and how the abilities changed as age increased. Of 188 participants, 157 completed the survey with partial results included. Communication, independence, and social activity scores were compared to the number of congenital and non-congenital health issues reported. Linear regression results showed those with more health issues were significantly less likely to be independent and social. However, only current health issues affected communication skills. No significant correlation occurred between the number of congenital abnormalities and scores for independence/life skills as an adult. T-test by age group found decreasing abilities after 40 years of age. In conclusion, quantitative data and information from this study is beneficial for providers in order to describe the potential for an individual with DS and to assist caregivers to plan accordingly for the future of their adult with DS.

TÍTULO / TITLE:   - Banning Abortion in Cases of Down Syndrome: Important Lessons for Advances in Genetic Diagnosis.

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REVISTA / JOURNAL:    - JAMA. 2018 May 18. pii: 2682211. doi: 10.1001/jama.2018.6118.

Enlace a la Editora de la Revista http://dx.doi.org/10.1001/jama.2018.6118

AUTORES / AUTHORS: - Reingold RB;

INSTITUCIÓN / INSTITUTION: - eorgetown University Law Center, O’Neill Institute for National and Global Health Law, Washington, DC. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Impact of sleep on executive functioning in school-age children with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jun;62(6):569-580. doi: 10.1111/jir.12496. Epub 2018 Apr 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12496

AUTORES / AUTHORS: - Esbensen AJ, Hoffman EK;

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

RESUMEN / SUMMARY: - Sleep problems have an impact on executive functioning in the general population. While children with Down syndrome (DS) are at high risk for sleep problems, the impact of these sleep problems on executive functioning in school-age children with DS is less well documented. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports and neuropsychology assessments of executive functioning among school-age children with DS. METHOD: Thirty school-age children with DS wore an actigraph watch for a week at home at night. Their parent completed ratings of the child’s sleep during that same week. Children completed a neuropsychology assessment of their inhibitory control, ability to shift and working memory. Their parents and teachers completed rating scales to assess these same constructs of executive functioning. RESULTS: Parent reports of restless sleep behaviours on the Children’s Sleep Habits Questionnaire (CSHQ), but not actigraph-measured sleep period or efficiency, were predictive of parent reports of concerns with inhibitory control, shifting and working memory, and of teacher reports of inhibitory control. No measure of sleep was predictive of executive functioning as measured by the neuropsychology assessment. CONCLUSION: The study findings corroborate the preliminary literature that parent-reported sleep problems are related to executive functioning in school-age children with DS, particularly in the area of inhibitory control across home and school. These findings have implications for understanding contributing factors to academic performance and school behaviour in school-age children with DS.

TÍTULO / TITLE:   - Communication of the Diagnosis of Down Syndrome: Mother’s Stories.

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REVISTA / JOURNAL:    - Cuad Bioet. 2018 May-Aug;29(96):147-158.

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AUTORES / AUTHORS: - Vargas Aldecoa T; et al

INSTITUCIÓN / INSTITUTION: - Catedra de Bioetica Jerome-Lejeune, Madrid, España 

RESUMEN / SUMMARY: - The article studies the way in which health professionals communicate the diagnosis of Down syndrome to parents. For that the personal stories of the mothers collected in the answers given by them to the open questions of a questionnaire on “communication of the diagnosis” are analyzed. The results show the mothers’ dissatisfaction with the information received during the prenatal and postnatal diagnosis of Down sindrome.

TÍTULO / TITLE:   - NICU management and outcomes of infants with trisomy 21 without major anomalies.

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REVISTA / JOURNAL:    - J Perinatol. 2018 May 25. pii: 10.1038/s41372-018-0136-5. doi: 10.1038/s41372-018-0136-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41372-018-0136-5

AUTORES / AUTHORS: - McAndrew S; ... Lagatta J;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA 

RESUMEN / SUMMARY: - To describe how trisomy 21 affects neonatal intensive care management and outcomes of full-term infants without congenital anomalies. STUDY DESIGN: Retrospective cohort of full-term infants without anomalies with and without trisomy 21 admitted to Pediatrix NICUs from 2005 to 2012. We compared diagnoses, management, length of stay, and discharge outcomes. RESULTS: In all, 4623 infants with trisomy 21 and 606 770 infants without trisomy 21 were identified. One-third of infants in the NICU with and without trisomy 21 were full term without major anomalies. Trisomy 21 infants had more respiratory distress, thrombocytopenia, feeding problems, and pulmonary hypertension. They received respiratory support for a longer period of time and had a longer length of stay. CONCLUSION: One-third of infants with trisomy 21 admitted to the NICU are full term without major anomalies. Common diagnoses and greater respiratory needs place infants with trisomy 21 at risk for longer length of stay.

TÍTULO / TITLE:   - Good health indicators in children with Down syndrome: High frequency of exclusive breastfeeding at 6 months.

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REVISTA / JOURNAL:    - Rev Chil Pediatr. 2018 Feb;89(1):32-41. doi: 10.4067/S0370-41062018000100032.

Enlace a la Editora de la Revista Genova L; ... Lizama M;

AUTORES / AUTHORS: - Centro UC Sindrome de Down, Chile

INSTITUCIÓN / INSTITUTION: - mlizama@med.puc.cl 

RESUMEN / SUMMARY: - AIM: To describe the frequency of exclusive breastfeeding at 6 months in binomial of mother and in fants with Down Syndrome (DS) attending at the Health net UC CHRISTUS (PSSPSD-UC), and iden tify the main factors associated with exclusive breastfeeding cessation. PATIENTS AND METHODS: Prevalence study of exclusively breastfeeding at 6 months of age that includes mother-child binomial of Chilean infants with (DS) aged 6-24 months, who attend the PSSPSD-UC. An on-line questionnaire was conducted, which included demographic data, child’s background and experience in breastfee ding. RESULTS: The total sample consisted of 73 binomials. Forty-six percent (34/73) of the mothers exclusively breastfed until 6 months or longer, 67.1% (49/73) of the infants had a disease or malfor mation that interfere with breast feeding. Among the 39 mothers who did not exclusively breastfeed until 6 months, 25 (64.1%) referred child factors. Hospitalization during the first 6 months was the most significant factor affecting the cessation of breastfeeding (OR = 6,13). CONCLUSIONS: First study in Chile that describes the frequency of exclusive breastfeeding at 6 months of age in children with DS, which shows a large rate of exclusively breastfeeding in the studied sample. The adequate support and education in breastfeeding could allow to achieve a better rate of exclusive breastfeeding in this vulnerable group.

TÍTULO / TITLE:   - A Comparison of Emotional-Behavioral Problems of Siblings at the Age Range of 3-9 Year Old Children with Autism and Down Syndrome.

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REVISTA / JOURNAL:    - Iran J Child Neurol. 2018 Spring;12(2):73-82.

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AUTORES / AUTHORS: - Pourbagheri N; et al

INSTITUCIÓN / INSTITUTION: - Physiotherapy Research Centre, School of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 

RESUMEN / SUMMARY: - Objective: Children’s emotional-behavioral problems will have a huge impact on their future. Such problems are more seen in the siblings of children with special needs. The present study aimed to compare emotional-behavioral problems in the healthy siblings of autistic children with the healthy siblings of children with Down syndrome in order to identify such children in Iran. Materials & Methods: This descriptive study was carried out in Tehran, Iran in 2016 on 174 healthy children aged between 3 and 9 yr old among whom 58 cases had autistic siblings, 58 cases had siblings with Down syndrome, and 58 cases had typically development siblings. The participants were selected using convenience sampling technique. All volunteer parents filled in SDQ Questionnaire. The study results were calculated using independent sample t-test, two-way ANOVA, and Tukey post hoc test by SPSS. Results: The mean overall score of Strengths and Difficulties Questionnaire was reported as 17.98+/-6.19 in the autism group, 11.01+/-6.56 in the Down syndrome group and 4.43+/-4.34 in the healthy group. There was a significant difference among autism, Down syndrome, and healthy groups. In the group of siblings with Down syndrome, the problems were significantly more in the age range of 3 to 7 yr old (P<0.05). However, no significant difference was observed in the scores of males and females (P>0.05). Conclusion: Siblings with autism or Down syndrome can have especial psychological effects on healthy children in families in the way that such effect will be more with autistic children. Therefore, formulating beneficial strategies for their parents is used to prevent emotional behavioral problems.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Palivizumab use in infants with Down syndrome-report from the German Synagis Registry 2009-2016.

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REVISTA / JOURNAL:    - Eur J Pediatr. 2018 Jun;177(6):903-911. doi: 10.1007/s00431-018-3142-x. Epub 2018 Apr 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-018-3142-x

AUTORES / AUTHORS: - Simon A et al

INSTITUCIÓN / INSTITUTION: - Institutes for Medical Biometry, Epidemiology and Medical Informatics (IMBEI), Campus Homburg, Saarland University, Homburg, Germany 

RESUMEN / SUMMARY: - Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P < 0.001) and 1590 versus 2750 g, respectively (P < 0.001). Patients with DS significantly more often had congenital heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. CONCLUSION: Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: * Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: * Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. * In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

TÍTULO / TITLE:   - Home oximetry to screen for obstructive sleep apnoea in Down syndrome.

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REVISTA / JOURNAL:    - Arch Dis Child. 2018 May 14. pii: archdischild-2017-314409. doi: 10.1136/archdischild-2017-314409.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2017-314409

AUTORES / AUTHORS: - Hill CM ... Evans HJ;

INSTITUCIÓN / INSTITUTION: - Southampton Children’s Hospital, Southampton, UK. 

RESUMEN / SUMMARY: - Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies. DESIGN: Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data. PATIENTS: Children with Down syndrome aged 0.5-6 years. INTERVENTION: Diagnostic multichannel sleep study and HPO. MAIN OUTCOME MEASURES: Sensitivity and specificity of HPO to predict moderate-to-severe OSA. RESULTS: 161/202 children with Down syndrome met quality criteria for inclusion and 25 had OSA. In this training sample, the best HPO parameter predictors of OSA were the delta 12 s index >0.555 (sensitivity 92%, specificity 65%) and 3% oxyhaemoglobin (SpO2) desaturation index (3% ODI)>6.15 dips/hour (sensitivity 92%, specificity 63%). Combining variables (delta 12 s index, 3% ODI, mean and minimum SpO2) achieved sensitivity of 96% but reduced specificity to 52%. All predictors retained or improved sensitivity in a clinical validation sample of 50 children with variable loss of specificity, best overall was the delta 12 s index, a measure of baseline SpO2 variability (sensitivity 92%; specificity 63%). CONCLUSIONS: HPO screening could halve the number of children with Down syndrome needing multichannel sleep studies and reduce the burden on children, families and health services alike. This approach offers a practical universal screening approach for OSA in Down syndrome that is accessible to the non-specialist paediatrician.

TÍTULO / TITLE:   - Impact of sleep on executive functioning in school-age children with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jun;62(6):569-580. doi: 10.1111/jir.12496. Epub 2018 Apr 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12496

AUTORES / AUTHORS: - Esbensen AJ, Hoffman EK;

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

RESUMEN / SUMMARY: - Sleep problems have an impact on executive functioning in the general population. While children with Down syndrome (DS) are at high risk for sleep problems, the impact of these sleep problems on executive functioning in school-age children with DS is less well documented. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports and neuropsychology assessments of executive functioning among school-age children with DS. METHOD: Thirty school-age children with DS wore an actigraph watch for a week at home at night. Their parent completed ratings of the child’s sleep during that same week. Children completed a neuropsychology assessment of their inhibitory control, ability to shift and working memory. Their parents and teachers completed rating scales to assess these same constructs of executive functioning. RESULTS: Parent reports of restless sleep behaviours on the Children’s Sleep Habits Questionnaire (CSHQ), but not actigraph-measured sleep period or efficiency, were predictive of parent reports of concerns with inhibitory control, shifting and working memory, and of teacher reports of inhibitory control. No measure of sleep was predictive of executive functioning as measured by the neuropsychology assessment. CONCLUSION: The study findings corroborate the preliminary literature that parent-reported sleep problems are related to executive functioning in school-age children with DS, particularly in the area of inhibitory control across home and school. These findings have implications for understanding contributing factors to academic performance and school behaviour in school-age children with DS.

TÍTULO / TITLE:   - The Role of Functional Respiratory Imaging in Treatment Selection of Children With Obstructive Sleep Apnea and Down Syndrome.

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REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 Apr 15;14(4):651-659. doi: 10.5664/jcsm.7064.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7064

AUTORES / AUTHORS: - Slaats MALJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University Hospital Antwerp, Antwerp, Belgium. 

RESUMEN / SUMMARY: - STUDY OBJECTIVES: The complexity of the pathogenesis of obstructive sleep apnea (OSA) in children with Down syndrome (DS) is illustrated by a prevalence of residual OSA after adenotonsillectomy. The aim of this study was to investigate whether upper airway imaging combined with computation fluid dynamics could characterize treatment outcome after adenotonsillectomy in these children. METHODS: Children with DS and OSA were prospectively included. All children underwent an evaluation of the upper airway and an ultra-low dose computed tomography scan of the upper airway before adenotonsillectomy. The upper airway tract was extracted from the scan and combined with computational fluid dynamics. Results were evaluated using control polysomnography after adenotonsillectomy. RESULTS: Thirty-three children were included: 18 boys, age 4.3 +/- 2.3 years, median body mass index z-score 0.6 (-2.9 to 3.0), and median obstructive apnea-hypopnea index was 15.7 (3-70) events/h. The minimal upper airway cross-sectional area was significantly smaller in children with more severe OSA (P = .03). Nineteen children underwent a second polysomnography after adenotonsillectomy. Seventy-nine percent had persistent OSA (obstructive apneahypopnea index > 2 events/h). A greater than 50% decrease in obstructive apnea-hypopnea index was observed in 79% and these children had a significantly higher volume of the regions below the tonsils. CONCLUSIONS: This is the first study to characterize treatment outcome in children with DS and OSA using computed tomography upper airway imaging. At baseline, children with more severe OSA had a smaller upper airway. Children with a less favorable response to adenotonsillectomy had a smaller volume of regions below the tonsils, which could be due to enlargement of the lingual tonsils, glossoptosis, or macroglossia. COMMENTARY: A commentary on this article appears in this issue on page 501.

TÍTULO / TITLE:   - Prevalence of Obstructive Sleep Apnea in Children With Down Syndrome: A Meta-Analysis.

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REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 May 15;14(5):867-875. doi: 10.5664/jcsm.7126.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7126

AUTORES / AUTHORS: - Lee CF; et al

INSTITUCIÓN / INSTITUTION: - Speech Language Pathologist, Child Developmental Assessment and Intervention Center, Taipei City Hospital, Taipei, Taiwan. 

RESUMEN / SUMMARY: - To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. METHODS: Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were “Down syndrome,” “Trisomy 21,” “OSA,” “sleep apnea syndromes,” “polysomnography” and “polygraphy.” The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1.5, 2, 5, and 10 event/h was estimated using a random-effects model. Subgroup analyses were conducted for children in different countries, sample size, study year, and risk of bias. Finally, the prevalence of OSA was compared between two types of sleep studies (polysomnography versus polygraphy). RESULTS: A total of 18 studies (1,200 children) were included (mean age: 7.7 years; 56% boys; mean sample size: 67 patients). Five studies had low risk of bias, and nine and four studies had moderate and high risk of bias, respectively. The OSA was evaluated through polygraphy in 2 studies, and polysomnography in 16 studies. For children who underwent polysomnography, the prevalences of OSA based on AHI> 1, 1.5, 2, 5, and 10 events/h were 69%, 76%, 75%, 50%, and 34%, respectively. Subgroup analyses revealed no significant difference among all subgroups. Meta-regression showed that AHI > 5 events/h was inversely correlated with age (P < .001). Moreover, the prevalence of OSA based on AHI> 1.5 events/h was lower in polygraphy compared with polysomnography (59% versus 76%, P = .037). CONCLUSIONS: OSA is highly prevalent in children with Down syndrome. Prevalence of moderate to severe OSA is higher in younger age.

TÍTULO / TITLE:   - Pulmonary hemosiderosis in children with Down syndrome: a national experience.

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REVISTA / JOURNAL:    - Orphanet J Rare Dis. 2018 Apr 20;13(1):60. doi: 10.1186/s13023-018-0806-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13023-018-0806-6

AUTORES / AUTHORS: - Alimi A; et al.

INSTITUCIÓN / INSTITUTION: - Assistance Publique Hopitaux de Paris (APHP), Pediatric Pulmonology department and Reference centre for rare lung diseases, RespiRare, Trousseau Hospital, 75012, Paris, France. 

RESUMEN / SUMMARY: -

Surgery - Cirugía

TÍTULO / TITLE:   - The Outcomes of Posterior Arthrodesis for Atlantoaxial Subluxation in Down Syndrome Patients: A Meta-Analysis.

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REVISTA / JOURNAL:    - Clin Spine Surg. 2018 May 25. doi: 10.1097/BSD.0000000000000658.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/BSD.0000000000000658

AUTORES / AUTHORS: - Scollan JP; et al.

INSTITUCIÓN / INSTITUTION: - Downstate College of Medicine, State University of New York, Brooklyn, NY. 

RESUMEN / SUMMARY: - STUDY DESIGN: This is a meta-analysis. OBJECTIVE: To establish rates of (1) neurological complications, (2) bony-related complications, (3) complications delaying recovery, (4) reoperation, and (5) fatalities following posterior cervical arthrodesis in Down syndrome (DS) patients with atlantoaxial subluxation. To determine if presenting symptoms had any relationship to postoperative complications. SUMMARY OF BACKGROUND DATA: Posterior arthrodesis is commonly utilized to correct cervical instability secondary to atlantoaxial instability in DS patients. However, there has never been a global evaluation of postoperative complications associated with posterior cervical spinal arthrodesis in DS patients. METHODS: A comprehensive search of Medline/PubMed, EMBASE, and Ovid databases between January 1980 and July 2017 was utilized to identify DS patients with atlantoaxial subluxation who underwent posterior cervical arthrodesis. Data were sorted by neurological complications, complications delaying recovery, bony-related complications, reoperations, and fatalities. Patients were sorted into 2 groups based on presentation with or without neurological deficits. RESULTS: Twelve studies met inclusion criteria, including 128 DS patients. Mean age was 13.8 years (range: 6.7-32.7 y; 47.8% male). Mean follow-up was 31.7 months (range: 14.9-77 mo). All patients underwent primary posterior cervical arthrodesis with an average of 2.5 vertebrae fused. A total of 39.6% of patients had bony-related complications [95% confidence interval (CI), 31.4%-48.5%], 23.3% had neurological deficits (95% CI, 16.6%-31.6%), and 26.4% experienced complications delaying recovery (95% CI, 19.4%-34.9%). The reoperation rate was 34.9% (95% CI, 25.5%-45.6%). The mortality rate was 3.9% (95% CI, 1.5%-9.7%). Neurological complications were 4-fold (P<0.05) and reoperation was 5.5-fold (P<0.05) more likely in patients presenting with neurological deficits compared with those without. CONCLUSIONS: This study det

Therapeutics - Terapéutica

TÍTULO / TITLE:   - The effect of long-term treatment with coenzyme Q10 on nucleic acid modifications by oxidation in children with Down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Aging. 2018 Jul;67:159-161. doi: 10.1016/j.neurobiolaging.2018.03.001. Epub 2018 Mar 15.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2018.03.001

AUTORES / AUTHORS: - Larsen EL; Poulsen HE et al

INSTITUCIÓN / INSTITUTION: - Laboratory of Clinical Pharmacology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Pharmacology, Bispebjerg Frederiksberg Hospital, University of Copenhagen, Copenhagen, Denmark; Department of Clinica 

RESUMEN / SUMMARY: - Elevated levels of oxidative nucleic acid modifications have been proposed to be associated with some of the clinical characteristics of Down syndrome. Oral intake of coenzyme Q10 improves oxidative status and shows a tendency toward protective effect on DNA oxidation in certain age groups of children with Down syndrome. Here, we demonstrate that long-term (i.e., 4 years) treatment with coenzyme Q10 (ubiquinone) at the dosage of 4 mg/kg/d does not affect whole body DNA and RNA oxidation.

TÍTULO / TITLE:   - Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome.

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REVISTA / JOURNAL:    - Artif Organs. 2018 May 17. doi: 10.1111/aor.13160.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/aor.13160

AUTORES / AUTHORS: - Duffy V; et al.

INSTITUCIÓN / INSTITUTION: - Heart Center, Department of Pediatrics, Nationwide Children’s Hospital, Columbus, OH, USA. 

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) may have multiple medical issues that place them at risk for requiring extracorporeal membrane oxygenation. Use of extracorporeal membrane oxygenation in pediatric patients with Down syndrome has been described, but minimal data exist for extracorporeal membrane oxygenation use in adults with Down syndrome. The goal of this study was to describe the clinical characteristics and to determine if there were differences between adult extracorporeal membrane oxygenation patients with Down syndrome that were alive (aDS) versus those that died (dDS) prior to hospital discharge. Patients with Down syndrome that were 18 years and older registered in the Extracorporeal Life Support Organization registry from 1983 to 2016 were analyzed. Demographics and extracorporeal membrane oxygenation characteristics were recorded. A total of 21 adults with Down syndrome were identified. Incidence of extracorporeal membrane oxygenation in adults with Down syndrome was 0.88 per 1000 extracorporeal membrane oxygenation procedures. Hospital mortality was 57.1% (12/21). There were no significant differences between aDS versus dDS for age (24.9 +/- 4.8 vs. 28.1 +/- 10.2 years), weight (90.7 +/- 13.0 vs. 79.1 +/- 27.0 kg), gender (4 males vs. 8 males), initial pH (7.18 +/- 0.19 vs. 7.27 +/- 0.16), or initial pO2 (51.7 +/- 13.9 vs. 45.4 +/- 19.9), respectively. There were no significant differences between aDS versus dDS in duration of extracorporeal membrane oxygenation run (239 +/- 159 h vs. 455 +/- 570 h, respectively), ventilator or extracorporeal membrane oxygenation mode, and nitric oxide use. aDS had fewer incidences of mechanical and neurologic complications (41.7% vs. 0.0%, P < 0.05) versus dDS. There were no other significant differences in complication rates between the two groups. Use of extracorporeal membrane oxygenation in the adult population with Down syndrome is significantly less compared to the pediatric population with Down syndrome. Baseline

TÍTULO / TITLE:   - Palivizumab use in infants with Down syndrome-report from the German Synagis Registry 2009-2016.

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REVISTA / JOURNAL:    - Eur J Pediatr. 2018 Jun;177(6):903-911. doi: 10.1007/s00431-018-3142-x. Epub 2018 Apr 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-018-3142-x

AUTORES / AUTHORS: - Simon A et al

INSTITUCIÓN / INSTITUTION: - Institutes for Medical Biometry, Epidemiology and Medical Informatics (IMBEI), Campus Homburg, Saarland University, Homburg, Germany. 

RESUMEN / SUMMARY: - Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P < 0.001) and 1590 versus 2750 g, respectively (P < 0.001). Patients with DS significantly more often had congenital heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. CONCLUSION: Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: * Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: * Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. * In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

TÍTULO / TITLE:   - NICU management and outcomes of infants with trisomy 21 without major anomalies.

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REVISTA / JOURNAL:    - J Perinatol. 2018 May 25. pii: 10.1038/s41372-018-0136-5. doi: 10.1038/s41372-018-0136-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41372-018-0136-5

AUTORES / AUTHORS: - McAndrew S; ... Lagatta J;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA. 

RESUMEN / SUMMARY: - To describe how trisomy 21 affects neonatal intensive care management and outcomes of full-term infants without congenital anomalies. STUDY DESIGN: Retrospective cohort of full-term infants without anomalies with and without trisomy 21 admitted to Pediatrix NICUs from 2005 to 2012. We compared diagnoses, management, length of stay, and discharge outcomes. RESULTS: In all, 4623 infants with trisomy 21 and 606 770 infants without trisomy 21 were identified. One-third of infants in the NICU with and without trisomy 21 were full term without major anomalies. Trisomy 21 infants had more respiratory distress, thrombocytopenia, feeding problems, and pulmonary hypertension. They received respiratory support for a longer period of time and had a longer length of stay. CONCLUSION: One-third of infants with trisomy 21 admitted to the NICU are full term without major anomalies. Common diagnoses and greater respiratory needs place infants with trisomy 21 at risk for longer length of stay.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE:   - Down syndrome and mild kidney dysfunction.

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REVISTA / JOURNAL:    - Pediatr Int. 2018 Apr;60(4):391-393. doi: 10.1111/ped.13525.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/ped.13525

AUTORES / AUTHORS: - Yamakawa Set al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Nephrology, Aichi Children’s Health and Medical Center, Obu, Aichi, Japan. 

RESUMEN / SUMMARY: - Few studies have evaluated kidney function in children with Down syndrome (DS) in detail. This study investigated kidney function in pediatric DS patients without complications that affect kidney function. Creatinine (Cr)- and cystatin C (cysC)-based estimated glomerular filtration rate (eGFR) were measured in a cohort of Japanese DS patients. The kidney function in these children with DS was approximately 80% that of the healthy Japanese children, suggesting that children with DS have smaller kidneys or a lower number of glomeruli than children without DS.

Education - Educación

TÍTULO / TITLE:   - Analysis of the linguistic profile in down syndrome using the arizona battery for communication disorders of dementia - a pilot study.

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REVISTA / JOURNAL:    - Codas. 2018 Mar 12;30(2):e20170164. doi: 10.1590/2317-1782/20182017164.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/2317-1782/20182017164

AUTORES / AUTHORS: - Carvalho CL; et al.

INSTITUCIÓN / INSTITUTION: - Departamento de Envelhecimento, Associacao de Pais e Amigos dos Excepcionais - APAE - Sao Paulo (SP), Brazil. 

RESUMEN / SUMMARY: - To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). METHODS: Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction. The scores obtained by the individuals in the ABCD were correlated to those obtained on the Lawton-IADL scale. RESULTS: Individuals with DS had significantly lower performance than cognitively normal adults and elderly as described in Brazilian studies. Due to the lack of similar studies in our country, we compared our results to those of elderly with Alzheimer’s Disease (AD), verifying that the performance of the DS population is similar to that of AD patients, although the former presented better scores on episodic immediate memory tests. There was a significant positive correlation between the scores obtained in the Lawton-IADL and those on the constructs Mental State, Episodic Memory, Linguistic Comprehension and Total ABCD. CONCLUSION: The ABCD battery is a useful tool in the evaluation of adults and elderly with DS and the performance of individuals in this battery correlates with indices of functionality. This is a pioneer study in Brazil, and it points to the need for a better characterization of the linguistic abilities of individuals with DS, in order to allow the elaboration of strategies that stimulate their communicative abilities as to promote greater social insertion for this population.

TÍTULO / TITLE:   - Using learning flexibly and remembering after a delay: understanding cognitive dysfunction in adults with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jun;62(6):521-531. doi: 10.1111/jir.12492. Epub 2018 Apr 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12492

AUTORES / AUTHORS: - Roberts L, Richmond JL;

INSTITUCIÓN / INSTITUTION: - School of Psychology, Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia. 

RESUMEN / SUMMARY: - Episodic memory deficits are a characteristic of cognitive dysfunction in people with Down syndrome (DS). However, less is known about the processes (i.e. encoding, retention or using learned information flexibly) that underlie these deficits. METHOD: We explored these abilities by administering a relational memory and inference task to participants with DS and mental age-matched controls and testing both immediately and after a 24-h delay. RESULTS: Adults with DS learned paired associates more slowly than controls but showed good recognition at both the immediate and delayed tests. Despite memory for learned pairs, adults with DS were less able to use relational learning flexibly to make inferential judgements than controls. CONCLUSIONS: These results deepen our understanding of the cognitive profile of adults with DS, demonstrating deficits in both encoding new information, and flexibly using such information. These results have important implications for workplace training and intervention programs for people with DS.

TÍTULO / TITLE:   - Beyond the floor effect on the WISC-IV in individuals with Down syndrome: are there cognitive strengths and weaknesses?

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jul;62(7):593-603. doi: 10.1111/jir.12499. Epub 2018 Apr 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12499

AUTORES / AUTHORS: - Pezzuti L.... Orsini A;

INSTITUCIÓN / INSTITUTION: - Department of Dynamic and Clinical Psychology, Sapienza University of Rome (Italy), Rome, Italy. 

RESUMEN / SUMMARY: - Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. METHOD: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened. RESULTS: Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. The results, using traditional transformation, confirm a deep cognitive impairment of those with Down syndrome. Conversely, using the new statistical method, it is immediately apparent that the variability of the scores, both on subtests and indices, is wider with respect to the traditional method. CONCLUSION: Children with Down syndrome show a greater ability in the Verbal Comprehension Index than in the Working Memory Index.

TÍTULO / TITLE:   - Response Inhibition and Interference Suppression in Individuals With Down Syndrome Compared to Typically Developing Children.

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REVISTA / JOURNAL:    - Front Psychol. 2018 May 4;9:660. doi: 10.3389/fpsyg.2018.00660. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyg.2018.00660

AUTORES / AUTHORS: - Traverso L; et al.

INSTITUCIÓN / INSTITUTION: - Department of Education Sciences, University of Genoa, Genoa, Italy. 

RESUMEN / SUMMARY: - The present study aims to investigate inhibition in individuals with Down Syndrome compared to typically developing children with different inhibitory tasks tapping response inhibition and interference suppression. Previous studies that aimed to investigate inhibition in individuals with Down Syndrome reported contradictory results that are difficult to compare given the different types of inhibitory tasks used and the lack of reference to a theoretical model of inhibition that was tested in children (see Bunge et al., 2002; Gandolfi et al., 2014). Three groups took part in the study: 32 individuals with Down Syndrome (DS) with a mean age of 14 years and 4 months, 35 typically developing children 5 years of age (5TD), and 30 typically developing children 6 years of age (6TD). No difference emerged among the groups in fluid intelligence. Based on a confirmatory factor analysis, two different inhibition factors were identified (response inhibition and interference suppression), and two composite scores were calculated. An ANOVA was then executed with the composite inhibitory scores as dependent variables and group membership as the between-subject variable to explore the group differences in inhibition components. The 6TD group outperformed the 5TD group in both response inhibition and interference suppression component scores. No differences were found in both inhibition components between the DS group and 5TD. In contrast, the 6TD group outperformed the DS group in both response inhibition and in the interference suppression component’s scores. Summarizing, our findings show that both response inhibition and interference suppression significantly increased during school transition and that individuals with DS showed a delay in both response inhibition and interference suppression components compared to typically developing 6-year-olds, but their performance was similar to typically developing 5-year-olds.

TÍTULO / TITLE:   - Behavioral Problems and Psychosocial Strengths: Unique Factors Contributing to the Behavioral Profile of Youth With Down Syndrome.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2018 May;123(3):212-227. doi: 10.1352/1944-7558-123.3.212.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-123.3.212

AUTORES / AUTHORS: - Dieleman LM; et al.

INSTITUCIÓN / INSTITUTION: - Lisa M. Dieleman, Sarah S.W. De Pauw, Bart Soenens, and Geert Van Hove, Ghent University, Belgium; and. 

RESUMEN / SUMMARY: - This study aimed to describe problem behaviors and psychosocial strengths, examine the problem-strength interrelations, and evaluate profiles of problems and strengths in youth with Down syndrome (DS). The community-based sample consisted of 67 parents of children with DS aged between 4 and 19 years. Parents reported about the developmental age (Vineland screener), behavioral problems (Child Behavior Checklist), and psychosocial strengths (Behavioral and Emotional Rating Scale) of their child. Results indicate that attention, social, and thought problems were most prevalent, whereas family involvement and receiving/expressing affection were identified as strengths. A confirmatory factor analysis identified problems and strengths as distinct, yet related, variables. Moreover, a cluster analysis of problems and strengths identified four different profiles. Implications for interventions are discussed.

TÍTULO / TITLE:   - Joint attention in Down syndrome: A meta-analysis.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2018 Jul;78:89-102. doi: 10.1016/j.ridd.2018.03.013. Epub 2018 May 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2018.03.013

AUTORES / AUTHORS: - Hahn LJ; et al.

INSTITUCIÓN / INSTITUTION: - University of Illinois at Urbana-Champaign, Department of Speech & Hearing Science, 901 South Sixth St. MC-482, Champaign, IL, 61820, United States. 

RESUMEN / SUMMARY: - Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. AIM: To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). METHODS AND PROCEDURES: Journal articles published before September 13, 2016, were identified by using the search terms “Down syndrome” and “joint attention” or “coordinating attention”. Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. OUTCOMES AND RESULTS: Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. CONCLUSIONS AND IMPLICATIONS: Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills.

TÍTULO / TITLE:   - Augmentative and alternative communication in children with Down’s syndrome: a systematic

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REVISTA / JOURNAL:    - BMC Pediatr. 2018 May 11;18(1):160. doi: 10.1186/s12887-018-1144-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12887-018-1144-5

AUTORES / AUTHORS: - Barbosa RTA; et al.

INSTITUCIÓN / INSTITUTION: - Laboratorio de Delineamento de Estudos e Escrita Cientifica, Departamento de Saude da Coletividade, Faculdade de Medicina do ABC (FMABC), Rua Fagundes Varela, 121. Vila Principe de Gales, 09060510, Santo Andre, SP, Brasil. 

RESUMEN / SUMMARY: - The use of technology to assist in the communication, socialization, language, and motor skills of children with Down’s syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of ‘augmentative and alternative communication’ used in children with Down’s syndrome. METHODS: This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population. RESULTS: A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS). CONCLUSION: Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.

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