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Aging - Envejecimiento

TÍTULO / TITLE:   - Neuronal overexpression of Alzheimers disease and Downs syndrome associated DYRK1A/minibrain gene alters motor decline, neurodegeneration and synaptic plasticity in Drosophila.

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REVISTA / JOURNAL:    - Neurobiol Dis. 2019 May;125:107-114. doi: 10.1016/j.nbd.2019.01.017. Epub 2019 Jan 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2019.01.017

AUTORES / AUTHORS: - Lowe SA; Usowicz MM; Hodge JJL

INSTITUCIÓN / INSTITUTION: - School of Physiology, Pharmacology and Neuroscience, University of Bristol, University Walk, Bristol BS8 1TD, UK. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterised by abnormal cognitive and motor development, and later in life by progressive Alzheimers disease (AD)-like dementia, neuropathology, declining motor function and shorter life expectancy. It is caused by trisomy of chromosome 21 (Hsa21), but how individual Hsa21 genes contribute to various aspects of the disorder is incompletely understood. Previous work has demonstrated a role for triplication of the Hsa21 gene DYRK1A in cognitive and motor deficits, as well as in altered neurogenesis and neurofibrillary degeneration in the DS brain, but its contribution to other DS phenotypes is unclear. Here we demonstrate that overexpression of minibrain (mnb), the Drosophila ortholog of DYRK1A, in the Drosophila nervous system accelerated age-dependent decline in motor performance and shortened lifespan. Overexpression of mnb in the eye was neurotoxic and overexpression in ellipsoid body neurons in the brain caused age-dependent neurodegeneration. At the larval neuromuscular junction, an established model for mammalian central glutamatergic synapses, neuronal mnb overexpression enhanced spontaneous vesicular transmitter release. It also slowed recovery from short-term depression of evoked transmitter release induced by high-frequency nerve stimulation and increased the number of boutons in one of the two glutamatergic motor neurons innervating the muscle. These results provide further insight into the roles of DYRK1A triplication in abnormal aging and synaptic dysfunction in DS.

TÍTULO / TITLE:   - Author’s reply to: Difficulties of diagnosing and managing dementia in people with Down syndrome.

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REVISTA / JOURNAL:    - Br J Psychiatry. 2018 Nov;213(5):669. doi: 10.1192/bjp.2018.208.

Enlace a la Editora de la Revista http://dx.doi.org/10.1192/bjp.2018.208

AUTORES / AUTHORS: - Eady N; et al... Strydom A

INSTITUCIÓN / INSTITUTION: - Division of Psychiatry,University College London,UK. Email:r.sheehan@ucl.ac.uk 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Sarcopenia-related parameters in adults with Down syndrome: A cross-sectional exploratory study.

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REVISTA / JOURNAL:    - Exp Gerontol. 2019 May;119:93-99. doi: 10.1016/j.exger.2019.01.028. Epub 2019 Jan 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.exger.2019.01.028

AUTORES / AUTHORS: - Coelho-Junior HJ; et al

INSTITUCIÓN / INSTITUTION: - Universita Cattolica del Sacro Cuore, Rome, Italy; Applied Kinesiology Laboratory-LCA, School of Physical Education, University of Campinas, Campinas, SP, Brazil. 

RESUMEN / SUMMARY: - People with Down syndrome (DS) experience premature aging. Whether this accelerated aging also involves early declines in muscle mass, strength and physical performance is presently unclear. The present study investigated the prevalence of sarcopenia parameters in adults with DS. In addition, the relationship between well-established muscle mass indexes and a set of body composition, functional, biological, and clinical parameters was explored. METHODS: One hundred-five adults with DS participated in the study. Demographic, clinical, anthropometric, and functional parameters were assessed. Lean body mass (LBM) was estimated using bioelectrical impedance analysis. Bone mineral density (BMD) of the hip and the spine was measured through dual X-ray absorptiometry. For the analysis, participants were categorized into two subgroups (i.e., low and high) for each LBM-related measurement (i.e., crude LBM, LBM to body mass index ratio, and skeletal muscle index) according to their median values. RESULTS: The mean age of participants was 38.4+/-12.1years, with 43 men (41%). Muscle mass, handgrip strength, and gait speed were lower than established cutoffs for sarcopenia. All muscle mass indexes were negatively correlated with age. However, only crude LBM and the skeletal muscle index were correlated with a set of anthropometric parameters and BMD. CONCLUSION: Findings from this exploratory study indicate that adults with DS show muscle mass indexes and physical performance levels similar to or lower than older adults with sarcopenia. The assessment of muscle mass and functional status should therefore be included in the routine evaluation of this population starting at young age.

TÍTULO / TITLE:   - Choroid Plexus Acts as Gatekeeper for TREM2, Abnormal Accumulation of ApoE, and Fibrillary Tau in Alzheimer’s Disease and in Down Syndrome Dementia.

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REVISTA / JOURNAL:    - J Alzheimers Dis. 2019 Mar 18. pii: JAD181179. doi: 10.3233/JAD-181179.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-181179

AUTORES / AUTHORS: - Raha-Chowdhury R; et al

INSTITUCIÓN / INSTITUTION: - Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, Cambridge, UK. 

RESUMEN / SUMMARY: - Genetic factors that influence Alzheimer’s disease (AD) risk include mutations in TREM2 and allelic variants of Apolipoprotein E, influencing AD pathology in the general population and in Down syndrome (DS). Evidence shows that dysfunction of the choroid plexus may compromise the blood-cerebrospinal fluid (CSF) barrier, altering secretary, transport and immune function that can affect AD pathology. OBJECTIVE: To investigate the genotype and phenotype of DS individuals in relation to choroid plexus damage and blood-CSF barrier leakage to identify markers that could facilitate early diagnosis of AD in DS. METHODS: To assess allele frequency and haplotype associations ApoE, Tau, TREM2, and HLA-DR were analyzed by SNP analysis in DS participants (n = 47) and controls (n = 50). The corresponding plasma protein levels were measured by ELISA. Postmortem brains from DS, AD, and age-matched controls were analyzed by immunohistochemistry. RESULTS: Haplotype analysis showed that individuals with Tau H1/H1 and ApoEvarepsilon4 genotypes were more prevalent among DS participants with an earlier diagnosis of dementia (17%) compared to H1/H2 haplotypes (6%). Plasma TREM2 levels decreased whereas phospho-tau levels increased with age in DS. In AD and DS brain, insoluble tau and ApoE were found to accumulate in the choroid plexus. CONCLUSION: Accumulation of tau and ApoE in the choroid plexus may increase the oligomerization rate of Abeta42 and impair tau trafficking, leading to AD pathology. We have identified a high-risk haplotype: ApoEvarepsilon4, Tau/H1, and TREM2/T, that manifests age-related changes potentially opening a window for treatment many years prior to the manifestation of the AD dementia.

TÍTULO / TITLE:   - Down Syndrome, Ageing and Epigenetics.

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REVISTA / JOURNAL:    - Subcell Biochem. 2019;91:161-193. doi: 10.1007/978-981-13-3681-2_7

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/978-981-13-3681-2_7

AUTORES / AUTHORS: - Gensous N; ... Garagnani P; et al.

INSTITUCIÓN / INSTITUTION: - DIMES- Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum, Bologna, Italy.  

RESUMEN / SUMMARY: - During the past decades, life expectancy of subjects with Down syndrome (DS) has greatly improved, but age-specific mortality rates are still important and DS subjects are characterized by an acceleration of the ageing process, which affects particularly the immune and central nervous systems. In this chapter, we will first review the characteristics of the ageing phenomenon in brain and in immune system in DS and we will then discuss the biological hallmarks of ageing in this specific population. Finally, we will also consider in detail the knowledge on epigenetics in DS, particularly DNA methylation.

TÍTULO / TITLE:   - Frontal cortex and striatal cellular and molecular pathobiology in individuals with Down syndrome with and without dementia.

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REVISTA / JOURNAL:    - Acta Neuropathol. 2019 Mar;137(3):413-436. doi: 10.1007/s00401-019-01965-6. Epub 2019 Feb 7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00401-019-01965-6

AUTORES / AUTHORS: - Perez SE; ... Mufson EJ;

INSTITUCIÓN / INSTITUTION: - Department of Neurobiology and Neurology, Barrow Neurological Institute, 350 W. Thomas St, Phoenix, AZ, 85013, USA. 

RESUMEN / SUMMARY: - Although, by age 40, individuals with Down syndrome (DS) develop amyloid-beta (Abeta) plaques and tau-containing neurofibrillary tangles (NFTs) linked to cognitive impairment in Alzheimer’s disease (AD), not all people with DS develop dementia. Whether Abeta plaques and NFTs are associated with individuals with DS with (DSD +) and without dementia (DSD -) is under-investigated. Here, we applied quantitative immunocytochemistry and fluorescent procedures to characterize NFT pathology using antibodies specific for tau phosphorylation (pS422, AT8), truncation (TauC3, MN423), and conformational (Alz50, MC1) epitopes, as well as Abeta and its precursor protein (APP) to frontal cortex (FC) and striatal tissue from DSD + to DSD - cases. Expression profiling of single pS422 labeled FC layer V and VI neurons was also determined using laser capture microdissection and custom-designed microarray analysis. Analysis revealed that cortical and striatal Abeta plaque burdens were similar in DSD + and DSD - cases. In both groups, most FC plaques were neuritic, while striatal plaques were diffuse. By contrast, FC AT8-positive NFTs and neuropil thread densities were significantly greater in DSD + compared to DSD -, while striatal NFT densities were similar between groups. FC pS422-positive and TauC3 NFT densities were significantly greater than Alz50-labeled NFTs in DSD + , but not DSD - cases. Putaminal, but not caudate pS422-positive NFT density, was significantly greater than TauC3-positive NFTs. In the FC, AT8 + pS422 + Alz50, TauC3 + pS422 + Alz50, pS422 + Alz50, and TauC3 + pS422 positive NFTs were more frequent in DSD + compared to DSD- cases. Single gene-array profiling of FC pS422 positive neurons revealed downregulation of 63 of a total of 864 transcripts related to Abeta/tau biology, glutamatergic, cholinergic, and monoaminergic metabolism, intracellular signaling, cell homeostasis, and cell death in DSD + compared DSD - cases. These observations suggest that abnormal tau a

TÍTULO / TITLE:   - Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease.

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REVISTA / JOURNAL:    - Alzheimers Res Ther. 2019 Mar 21;11(1):26. doi: 10.1186/s13195-019-0477-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13195-019-0477-0

AUTORES / AUTHORS: - Startin CM.... Strydom A

INSTITUCIÓN / INSTITUTION: - Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 16 De Crespigny Park, London, SE5 8AF, UK.; Division of Psychiatry, University College London, London, UK.; 

RESUMEN / SUMMARY: - Down syndrome (DS), caused by chromosome 21 trisomy, is associated with an ultra-high risk of dementia due to Alzheimer’s disease (AD), driven by amyloid precursor protein (APP) gene triplication. Understanding relevant molecular differences between those with DS, those with sporadic AD (sAD) without DS, and controls will aid in understanding AD development in DS. We explored group differences in plasma concentrations of amyloid-beta peptides and tau (as their accumulation is a characteristic feature of AD) and cytokines (as the inflammatory response has been implicated in AD development, and immune dysfunction is common in DS). METHODS: We used ultrasensitive assays to compare plasma concentrations of the amyloid-beta peptides Abeta40 and Abeta42, total tau (t-tau), and the cytokines IL1beta, IL10, IL6, and TNFalpha between adults with DS (n = 31), adults with sAD (n = 27), and controls age-matched to the group with DS (n = 27), and explored relationships between molecular concentrations and with age within each group. In the group with DS, we also explored relationships with neurofilament light (NfL) concentration, due to its potential use as a biomarker for AD in DS. RESULTS: Abeta40, Abeta42, and IL1beta concentrations were higher in DS, with a higher Abeta42/Abeta40 ratio in controls. The group with DS showed moderate positive associations between concentrations of t-tau and both Abeta42 and IL1beta. Only NfL concentration in the group with DS showed a significant positive association with age. CONCLUSIONS: Concentrations of Abeta40 and Abeta42 were much higher in adults with DS than in other groups, reflecting APP gene triplication, while no difference in the Abeta42/Abeta40 ratio between those with DS and sAD may indicate similar processing and deposition of Abeta40 and Abeta42 in these groups. Higher concentrations of IL1beta in DS may reflect an increased vulnerability to infections and/or an increased prevalence of autoimmune disorders, while the positive

TÍTULO / TITLE:   - Ageing and Down syndrome: Neurocognitive characteristics and pharmacological treatment.

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REVISTA / JOURNAL:    - Hell J Nucl Med. 2019 Jan-Apr;22 Suppl:123-132.

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AUTORES / AUTHORS: - Malegiannaki AC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Education, University of Nicosia, Cyprus - Aristotle University of Thessaloniki, Greece. 

RESUMEN / SUMMARY: - Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that emerge within specific stages in the developmental continuum. A plethora of studies have confirmed DS’s relationship to premature aging and subsequent cognitive decline. Due to having three copies of the amyloid precursor protein (APP) gene which results in amyloid-beta plaque deposition, the cognitive decline often resembles the decline observed in Alzheimer’s disease. More specifically, as individuals with DS mature in age (>40) they experience a dramatic increase in difficulties in several cognitive domains, such as language, visuo-spatial abilities, executive functions, working memory, etc. Especially, frontal functions are reported to show an inverse correlation with age. In contrast to the pronounced and well-described neuropsychological deficits, psychiatric symptoms presented by this patient category are not uniform. Mental health disturbances commonly include general anxiety, obsessive-compulsive or oppositional/aggressive behaviors, depression and sleep disorders, as well as self-injury and behavior belonging to autistic spectrum disorders. Therefore, the purpose of the present review is twofold. Our first goal is to depict the cognitive and behavioural phenotype of adults with DS and our second goal is to review the current treatment options available for the behavioral and psychological symptoms, with an emphasis put on the quality of evidence available through meta-analyses and appraising critically the anecdotal treatment often applied. We also present a review on the psychotropic medication, especially acetylcholinesterase inhibitors, that can potentially slow the progression of cognitive decline of those patients. Finally, novel therapeutic strategies, psychological interventions and future diagnostic and therapeutic challenges are discussed.

TÍTULO / TITLE:   - Restoration of aberrant mTOR signaling by intranasal rapamycin reduces oxidative damage: Focus on HNE-modified proteins in a mouse model of down syndrome.

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REVISTA / JOURNAL:    - Redox Biol. 2019 Mar 9:101162. doi: 10.1016/j.redox.2019.101162.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.redox.2019.101162

AUTORES / AUTHORS: - Di Domenico F; ... Perluigi M;

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences, Sapienza University of Rome, Rome, Italy.  

RESUMEN / SUMMARY: - Increasing evidences support the notion that the impairment of intracellular degradative machinery is responsible for the accumulation of oxidized/misfolded proteins that ultimately results in the deposition of protein aggregates. These events are key pathological aspects of “protein misfolding diseases”, including Alzheimer disease (AD). Interestingly, Down syndrome (DS) neuropathology shares many features with AD, such as the deposition of both amyloid plaques and neurofibrillary tangles. Studies from our group and others demonstrated, in DS brain, the dysfunction of both proteasome and autophagy degradative systems, coupled with increased oxidative damage. Further, we observed the aberrant increase of mTOR signaling and of its down-stream pathways in both DS brain and in Ts65Dn mice. Based on these findings, we support the ability of intranasal rapamycin treatment (InRapa) to restore mTOR pathway but also to restrain oxidative stress resulting in the decreased accumulation of lipoxidized proteins. By proteomics approach, we were able to identify specific proteins that showed decreased levels of HNE-modification after InRapa treatment compared with vehicle group. Among MS-identified proteins, we found that reduced oxidation of arginase-1 (ARG-1) and protein phosphatase 2A (PP2A) might play a key role in reducing brain damage associated with synaptic transmission failure and tau hyperphosphorylation. InRapa treatment, by reducing ARG-1 protein-bound HNE levels, rescues its enzyme activity and conceivably contribute to the recovery of arginase-regulated functions. Further, it was shown that PP2A inhibition induces tau hyperphosphorylation and spatial memory deficits. Our data suggest that InRapa was able to rescue PP2A activity as suggested by reduced p-tau levels. In summary, considering that mTOR pathway is a central hub of multiple intracellular signaling, we propose that InRapa treatment is able to lower the lipoxidation-mediated damage to proteins, thus represe

TÍTULO / TITLE:   - Leisure Activity, Brain beta-amyloid, and Episodic Memory in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Dev Neurobiol. 2019 Mar 26. doi: 10.1002/dneu.22677.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/dneu.22677

AUTORES / AUTHORS: - Mihaila I et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania. Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin. 

RESUMEN / SUMMARY: - The present study provided an investigation of associations between leisure activity and early Alzheimer’s disease neuropathology (i.e., brain beta-amyloid) and episodic memory in a sample of 65 adults with Down syndrome (aged 30-53 years), at baseline and follow-up, approximately three years apart. Findings indicated that leisure activity at baseline was not associated with brain beta-amyloid at baseline or change in brain beta-amyloid from baseline to follow-up. Greater cognitively stimulating leisure activity at baseline was associated with better episodic memory at baseline, and greater social leisure activity at baseline was associated with less decline in episodic memory from baseline to follow-up. High (as opposed to low) levels of social and overall leisure activity at baseline moderated the association between increase in brain beta-amyloid and decline in episodic memory, from baseline to follow-up. Findings suggest that cognitively stimulating and social leisure activity could protect against the effect of Alzheimer’s disease neuropathology on episodic memory in adults with Down syndrome.

TÍTULO / TITLE:   - Dementia in Down syndrome: unique insights for Alzheimer disease research.

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REVISTA / JOURNAL:    - Nat Rev Neurol. 2019 Mar;15(3):135-147. doi: 10.1038/s41582-018-0132-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41582-018-0132-6

AUTORES / AUTHORS: - Lott IT; Head E

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics and Neurology, School of Medicine, University of California, Irvine, CA, USA. 

RESUMEN / SUMMARY: - Virtually all adults with Down syndrome (DS) show the neuropathological changes of Alzheimer disease (AD) by the age of 40 years. This association is partially due to overexpression of amyloid precursor protein, encoded by APP, as a result of the location of this gene on chromosome 21. Amyloid-beta accumulates in the brain across the lifespan of people with DS, which provides a unique opportunity to understand the temporal progression of AD and the epigenetic factors that contribute to the age of dementia onset. This age dependency in the development of AD in DS can inform research into the presentation of AD in the general population, in whom a longitudinal perspective of the disease is not often available. Comparison of the risk profiles, biomarker profiles and genetic profiles of adults with DS with those of individuals with AD in the general population can help to determine common and distinct pathways as well as mechanisms underlying increased risk of dementia. This Review evaluates the similarities and differences between the pathological cascades and genetics underpinning DS and AD with the aim of providing a platform for common exploration of these disorders.

TÍTULO / TITLE:   - Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.

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REVISTA / JOURNAL:    - Aging Cell. 2019 Feb 15:e12903. doi: 10.1111/acel.12903.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/acel.12903

AUTORES / AUTHORS: - Franceschi C; et al.

INSTITUCIÓN / INSTITUTION: - IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.;  

RESUMEN / SUMMARY: - Down syndrome (DS) has been proposed by George Martin as a segmental progeroid syndrome since 1978. In fact, DS persons suffer from several age-associated disorders much earlier than euploid persons. Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion that DS is a progeroid trait. Nowadays, due to the progressive advancements in social inclusion processes and medical assistance, DS persons live much longer than in the past; therefore, the early-onset health problems of these persons are becoming an urgent and largely unmet social and medical burden. In particular, the most important ailment of DS persons is the accelerated cognitive decline that starts when they reach about 40 years of age. This decline can be at least in part counteracted by multi-systemic approaches including early-onset cognitive training, physical activity, and psychosocial assistance. However, no pharmacological treatment is approved to counteract this decline. According to the most advanced conceptualization of Geroscience, tackling the molecular mechanisms underpinning the aging process should be a smart/feasible strategy to combat and/or delay the great majority of age-related diseases, including cognitive decline. We think that a debate is needed urgently on if (and how) this strategy could be integrated in protocols to face DS-associated dementia and overall unhealthy aging. In particular we propose that, on the basis of data obtained in different clinical settings, metformin is a promising candidate that could be exploited to counteract cognitive decline in DS.

Cardiology - Cardiología

TÍTULO / TITLE:   - Relationship Between Pulmonary Arterial Resistance and Compliance in Patients with Down Syndrome.

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REVISTA / JOURNAL:    - Pediatr Cardiol. 2019 Mar 4. pii: 10.1007/s00246-019-02080-9. doi: 10.1007/s00246-019-02080-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00246-019-02080-9

AUTORES / AUTHORS: - Iwaya Y; Muneuchi J; et al.

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Cardiology, Department of Pediatrics, Japan Community Healthcare Organization, Kyushu Hospital, 1-8-1, Kishinoura, Yahatanishiku, Kitakyushu, Fukuoka, 806-8501, Japan. 

RESUMEN / SUMMARY: - This study aimed to clarify the characteristics of pulmonary arterial resistance (Rp)-compliance (Cp) coupling in individuals with Down syndrome (DS), who have increased risks of pulmonary arterial hypertension (PAH). We performed cardiac catheterization before and after corrective surgery in 85 DS infants and 85 controls with congenital heart disease and PAH. We retrospectively collected hemodynamic data and compared Rp and Cp between the groups. Age at surgery was 3.5 (2.6-4.6) months. The first and second catheterizations were performed 1 month before and after corrective surgery in both groups. Preoperative Cp in DS patients was significantly lower than that in controls [2.27 (1.62-3.0) vs. 2.50 (1.86-3.31) mL/mmHg/m(2), p = 0.039], although there was no significant difference in mean pulmonary arterial pressure and Rp between the groups. Analysis of covariance revealed that the slopes of the preoperative regression lines for the logarithmic transformations of Rp and Cp were identical in DS patients and controls (p = 0.299). However, the postoperative regression line was shifted downward in DS patients after corrective surgery. Postoperative home oxygen therapy (HOT) was performed in 39 patients (36 DS patients) and multivariate logistic regression analysis revealed that postoperative HOT was significantly related to low preoperative Cp (p = 0.039) and DS (p = 0.0001). Individuals with DS have the unique pulmonary vasculature characterized with low Cp that is related to postoperative HOT.

TÍTULO / TITLE:   - Surgical Treatment for Congenital Heart Defects in Down Syndrome Patients.

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REVISTA / JOURNAL:    - Braz J Cardiovasc Surg. 2019 Jan-Feb;34(1):1-7. doi: 10.21470/1678-9741-2018-0358.

Enlace a la Editora de la Revista http://dx.doi.org/10.21470/1678-9741-2018-0358

AUTORES / AUTHORS: - Santos FCGB; et al.

INSTITUCIÓN / INSTITUTION: - Servico de Cardiologia e Cirurgia Cardiovascular Pediatrica de Sao Jose do Rio Preto - Hospital da Crianca e Maternidade de Sao Jose do Rio Preto (FUNFARME) - Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP), Sao Jose do Rio Preto, S 

RESUMEN / SUMMARY: - To analyze data related to surgical treatment in patients with congenital heart defects (CHD) and Down syndrome (DS) based on information from International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC). METHODS: Between July 1, 2010 and December 31, 2017, 139 patients with CHD and DS underwent surgery at Hospital de Base and Hospital da Crianca e Maternidade de Sao Jose do Rio Preto (FUNFARME)/Faculdade de Medicina de Sao Jose do Rio Preto - SP (FAMERP). A quantitative, observational and cross-sectional study was performed in which the pre, intra and postoperative data were analyzed in an IQIC database. The data included gender, age, prematurity, weight, preoperative procedures, diagnosis, associated cardiac and non-cardiac anomalies, Risk Adjustment for Congenital Heart Surgery (RACHS-1), type of surgery, cardiopulmonary bypass (CPB), perfusion time, aortic clamping time and CPB temperature, bacterial sepsis, surgical site infection and other infections, length of stay in intensive care unit (ICU), length of hospital stay and in-hospital mortality. RESULTS: The most prevalent procedures were complete atrioventricular septal defect repair (58 - 39.45%), followed by closure of ventricular septal defect (36 - 24.49%). The RACHS-1 categories 1, 2, 3 and 4 were distributed as 22 (15%); 49 (33.3%); 72 (49%) and 4 (2.7%), respectively. There were no procedures classified as categories 5 or 6. Bacterial sepsis occurred in 10.2% of cases, surgical site infection in 6.1%, other infections in 14.3%. The median length of ICU stay was 5 days and the median length of hospital stay was 11 days. In-hospital mortality was 6.8%. CONCLUSION: Surgical treatment in patients with CHD and DS usually does not require highly complex surgical procedures, but are affected by infectious complications, resulting in a longer ICU and hospital length of stay with considerable mortality.

TÍTULO / TITLE:   - Cardiac mechanics in infants with Down syndrome in the early neonatal period.

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REVISTA / JOURNAL:    - J Perinatol. 2019 Mar 25. pii: 10.1038/s41372-019-0354-5. doi: 10.1038/s41372-019-0354-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41372-019-0354-5

AUTORES / AUTHORS: - Breatnach CR; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neonatology, The Rotunda Hospital, Dublin, Ireland.; National Children’s Research Centre, Crumlin, Dublin, Ireland. 

RESUMEN / SUMMARY: - The objective of this study is to test whether myocardial performance is impaired over the first week of age in infants with Down syndrome (DS) without congenital heart disease (CHD). STUDY DESIGN: A prospective cohort study of 20 infants with DS without CHD and 17 healthy term infants comparing echocardiographic measures of left (LV) and right (RV) ventricular function and pulmonary hypertension (PH) on days 1, 2, and 5-7. RESULTS: Indices of PH were higher in the DS group over the study period. Infants with DS had larger RV and smaller LV dimensions. Fractional area change and RV longitudinal strain values were lower in the DS group. LV shear strain values were lower in infants with DS driven by a lack of basal rotation. CONCLUSION: Infants with DS without CHD and echocardiographic evidence of PH during the early neonatal period demonstrate reduced RV systolic function with impaired LV rotational mechanics, reflective of the ventricular interdependence.

TÍTULO / TITLE:   - Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.

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REVISTA / JOURNAL:    - Front Genet. 2019 Feb 6;10:41. doi: 10.3389/fgene.2019.00041. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fgene.2019.00041

AUTORES / AUTHORS: - Babic Bozovic I; et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Biology and Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia. 

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common chromosomal abnormalities associated with congenital heart defects (CHD), with approximately 40 to 60% of cases showing cardiac defects. This study assessed (i) the association between maternal LINE-1 methylation and the occurrence of CHDs in children with DS and (ii) the impact of endogenous maternal factors (MTHFR C677T polymorphism and maternal age) and exogenous maternal factors (cigarette smoking, alcohol intake, medication use, body mass index and dietary habits such as folate intake) on maternal LINE-1 methylation and on the occurrence of CHD in children with DS. Patients and Methods: The study included 90 mothers of children with DS of maternal origin (49% DS-CHD(+) mothers/51% DS-CHD(-) mothers). LINE-1 DNA methylation was analyzed in peripheral blood lymphocytes by quantification of LINE-1 methylation using the MethyLight method. MTHFR C677T polymorphism genotyping was performed using PCR-RFLP. Results: LINE-1 methylation was not significantly different between DS-CHD(+) and DS-CHD(-) mothers (P = 0.997). Combination of MTHFR C677T genotype/diet and BMI were significant independent predictors of LINE-1 DNA methylation in DS-CHD(+) mothers (beta -0.40, P = 0.01 and beta -0.32, P = 0.03, respectively). In the analyzed multivariate model (model P = 0.028), these two factors explained around 72% of the variance in LINE-1 DNA methylation in mothers of children with DS and CHD. The group with the highest BMI (>/=30 kg/m2) had significantly lower LINE-1 methylation than the group with normal BMI (Bonferroni post hoc P = 0.03) and the overweight group (Bonferroni post hoc P = 0.04). The lowest LINE-1 DNA methylation values were found in DS-CHD(+) mothers with the CT+TT genotype and a low-folate diet; the values were significantly lower than the values in mothers with the CC genotype and a folate-rich diet (Bonferroni post hoc P = 0.04). Conclusion: Association between maternal LINE-1 methylation and CHD in children with

Dental - Dental

TÍTULO / TITLE:   - Applicability of Demirjian’s method for age estimation in a sample of Italian children with Down syndrome: A case-control retrospective study.

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REVISTA / JOURNAL:    - Forensic Sci Int. 2019 Mar 15;298:336-340. doi: 10.1016/j.forsciint.2019.03.015.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.forsciint.2019.03.015

AUTORES / AUTHORS: - Bagattoni S; et al

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Pediatric Dentistry, University of Bologna, Bologna, Italy.  

RESUMEN / SUMMARY: - Age estimation is widely applied in several clinical and forensic fields. The radiographic evaluation of dental development is one of the most accepted tools for this purpose. Among the different methods proposed, Demirjian’s method was the most extensively used and tested in the medical literature revealing that the original standards for the French-Canadian population tends to over-estimate the age of different population groups. The aims of this study were to evaluate the applicability of the Demirjian method in a sample of Italian children with Down syndrome (DS) and to compare the data with age and gender matched healthy subjects (non-DS). A retrospective study was performed on 146 orthopantomograms of DS individuals aged 6.3-16 years. The mean chronological age (CA) and the mean dental age (DA) were calculated. Using Cohen’s kappa statistics, the inter- and intra-examiner agreement was reported as good (k = 0.75) and very good (k = 0.86). The differences between CAs and DAs were statistically significant for males and females (Wilcoxon Signed Rank test; p < 0.05). The median overestimation was 0.6 years in males and 0.9 years in females. Demirjian’s method is unsuitable for dental age estimation in DS individuals. The same trend in overestimation was found in the control group. Comparing DS and non-DS subjects, the differences between DAs were not statistically significant for both males and females revealing that the dental development process is similar.

TÍTULO / TITLE:   - Determination of mandibular morphology in a TURKISH population with Down syndrome using panoramic radiography.

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REVISTA / JOURNAL:    - BMC Oral Health. 2019 Feb 26;19(1):36. doi: 10.1186/s12903-019-0722-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12903-019-0722-8

AUTORES / AUTHORS: - Satir S

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is by far the most common known chromosomal disorder. Some characteristic features of DS are generalised growth deficiency, craniofacial abnormalities such as mandibular prognathism and underdevelopment of the midfacial region, dental abnormalities such as taurodontism and hypodontia. Individuals with DS have an increased prevalence of periodontal disease compared with age-matched control patients. The aim of the present study is to determine the morphologic features of the mandible among individuals with DS. METHODS: Thirty-four DS patients and thirty four age- and gender-matched control subjects underwent panoramic radiography, which included measurement of the mandibular canal (MC), the mandibular foramen (MF), the mandibular ramus (MR), the distance from the MC to the mandibular lower border (C-MLB), and the distance between the MC and the alveolar crest upper limit (C-AUL). Patients were separated into two groups based on age: < 15 (n = 15) and >/= 15 (n = 19). In order to determine whether the MF, MR, MC, C-AUL, and C-MLB scores differed according to the groups (DS and control), one-way multivariate analysis of covariance (MANCOVA) was applied in which gender and age were taken as covariates. RESULTS: When the main effect according to the group was examined separately according to each measurement, the MF in the DS group was high with a moderate effect (F = 9207; p = 0.003). MR (F = 40,518; p < 0.001), MC (F = 23,747; p < 0.001), and C-AUL (F = 58,571; p < 0.001) in the DS group were lower with a larger effect. C-MLB did not significantly differ between the groups, and the effect size was quite low (p > 0.05). CONCLUSIONS: Mandibular canal morphology may exhibit anatomical variations in DS. The alveolar bone level may differ from non-DS due to growth development retardation and/or periodontal diseases.

TÍTULO / TITLE:   - Malocclusion in children and adolescents with Down syndrome: a systematic review and meta-analysis.

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REVISTA / JOURNAL:    - Int J Paediatr Dent. 2019 Mar 4. doi: 10.1111/ipd.12491.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/ipd.12491

AUTORES / AUTHORS: - Doriguetto PVT; et al.

INSTITUCIÓN / INSTITUTION: - Department of Social and Paediatric Dentistry; School of Dentistry, Universidade Federal de Juiz de Fora; Juiz de Fora, Minas Gerais, Brazil. 

RESUMEN / SUMMARY: - Previous studies have shown a high prevalence of malocclusion in people with Down syndrome (DS) compared to individuals without DS, but no systematic review to summarise the evidence on this topic has been performed thus far. AIM: To evaluate whether children/adolescents with Down syndrome (DS) are more affected by malocclusion than those without DS. DESIGN: A search was performed in seven electronic databases. The quality of the included studies was assessed using the Newcastle-Ottawa Scale. The strength of the evidence from the selected studies was evaluated by the GRADE system. RESULTS: Eleven publications were included in the systematic review and eight were meta-analysed. The meta-analysis showed that malocclusion was more prevalent in children/adolescents with DS for: Angle Class III [Risk Difference (RD) = 0.40; Confidence Interval (CI) = 0.33 - 0.46], posterior crossbite [Risk Ratio (RR) = 3.09; CI = 2.02 - 4.73], anterior crossbite [RR = 2.18; CI = 1.41 - 3.39], and anterior open bite [RD = 0.21; CI = 0.06 - 0.36]. CONCLUSION: The occurrence of malocclusion was higher in children/adolescents with DS compared to individuals without the syndrome. However, the strength of the evidence of the studies analyzed was considered moderate and low. This article is protected by copyright. All rights reserved.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Adherence to Guidelines for Screening Polysomnography in Children with Down Syndrome.

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REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2019 Mar 26:194599819837243. doi: 10.1177/0194599819837243.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0194599819837243

AUTORES / AUTHORS: - Knollman PD; et al.

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

RESUMEN / SUMMARY: - To compare the percentage and mean age of children with Down syndrome (DS) who underwent polysomnography (PSG) to evaluate for obstructive sleep apnea (OSA) before and after the introduction of the American Academy of Pediatrics guidelines recommending universal screening by age 4 years. STUDY DESIGN: Retrospective cohort study. SETTING: Single tertiary pediatric hospital. METHODS: This study is a review of patients with DS seen in a subspecialty clinic. Children born preguidelines (2000-2006) were compared with children born postguidelines (2007-2012) regarding percentage receiving PSG, age at first PSG, and rate of OSA. RESULTS: We included 766 children with DS; 306 (40%) were born preguidelines. Overall, 61% (n = 467) underwent PSG, with a mean +/- SD age of 4.2 +/- 2.9 years at first PSG; 341 (44.5%) underwent first PSG by age 4 years. The rate of OSA (obstructive index >/=1 event/hour) among children undergoing first PSG was 78.2%. No difference was seen in the percentage receiving PSG preguidelines (63.4%) versus postguidelines (59.4%, P = .26). The mean age at the time of first PSG was 5.3 +/- 3.5 years preguidelines versus 3.4 +/- 2.0 years postguidelines ( P < .0001). Children in the postguidelines cohort were more likely to undergo first PSG during the ages of 1 through 4 years (67.4% vs 52.1%, P < .0001). There was no difference in rates of OSA between the pre- and postguidelines cohorts (79.8% vs 75.9%, P = .32). CONCLUSIONS: Nearly two-thirds of children with DS (61%) underwent PSG overall, with a significant shift toward completion of PSG at an earlier age after the introduction of the American Academy of Pediatrics guidelines for universal screening for OSA.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Hirschsprung’s disease and Down syndrome: From the reappraisal of risk factors to the impact of surgery.

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REVISTA / JOURNAL:    - J Pediatr Surg. 2019 Feb 12. pii: S0022-3468(19)30090-9. doi: 10.1016/j.jpedsurg.2019.01.053.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpedsurg.2019.01.053

AUTORES / AUTHORS: - Pini Prato A; et al.

INSTITUCIÓN / INSTITUTION: - Unit of Pediatric Surgery, The Children Hospital, AON SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy; “Umberto Bosio” Center for Digestive Diseases, The Children Hospital, AON SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy 

RESUMEN / SUMMARY: - The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR+DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome. MATERIALS AND METHODS: The notes of all patients admitted with a diagnosis of HSCR+DS have been retrospectively reviewed. Surgical details, intraoperative complications, long term issues and functional outcome have been recorded. The results have been compared to those of patients without DS and were assessed based on surgical approach. RESULTS: A total of 23 HSCR+DS out of a series of 385 HSCR (6%) have been included. Preoperative enterocolitis (HAEC) was reported by 32%. Associated anomalies were detected in more than half of the patients. In particular, Congenital Heart Defects (CHDs) were reported by 57%. Postoperative complications (mostly symptomatic anal sphincter achalasia) were experienced by 55%. Constipation was experienced by 30%; severe continence issues, by 53%. One patient suffering from severe CHDs died. With regard to complications, only symptomatic anal achalasia requiring intrasphincteric BoTox injection was significantly more frequent in HSCR+DS (30% vs 10%, p=0.0071). Similarly, continence proved to be significantly worse in HSCR+DS. DISCUSSION: With the exception of symptomatic anal achalasia, HSCR+DS patients proved not to have a higher likelihood of complications compared to HSCR alone. On the other hand, functional results in the long term are worse. As a consequence, long term follow up and personalized rehabilitation programs are warranted for this delicate subset of HSCR patients. LEVEL OF EVIDENCE: Level III.

Genetics - Genética

TÍTULO / TITLE:   - Autonomous trisomic rescue of Down syndrome cells.

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REVISTA / JOURNAL:    - Lab Invest. 2019 Feb 13. pii: 10.1038/s41374-019-0230-0. doi: 10.1038/s41374-019-0230-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41374-019-0230-0

AUTORES / AUTHORS: - Inoue M; .... Umezawa A;

INSTITUCIÓN / INSTITUTION: - Department of Reproductive Biology, National Center for Child Health and Development, Tokyo, 157-8535, Japan 

RESUMEN / SUMMARY: - Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer’s disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. In this study, we continuously cultivated induced pluripotent stem cells (iPSCs) with chromosome 21 trisomy for more than 70 weeks, and serendipitously obtained revertant cells with normal chromosome 21 diploids from the trisomic cells during long-term cultivation. Repeated experiments revealed that this trisomy rescue was not due to mosaicism of chromosome 21 diploid cells and occurred at an extremely high frequency. We herewith report the spontaneous correction from chromosome 21 trisomy to disomy without genetic manipulation, chemical treatment or exposure to irradiation. The revertant diploid cells will possibly serve a reference for drug screening and a raw material of regenerative medicinal products for cell-based therapy.

TÍTULO / TITLE:   - Prenatal circulating microRNA signatures of foetal Down syndrome.

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REVISTA / JOURNAL:    - Sci Rep. 2019 Feb 20;9(1):2394. doi: 10.1038/s41598-018-35876-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-018-35876-5

AUTORES / AUTHORS: - Zbucka-Kretowska M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Reproduction and Gynaecological Endocrinology, Medical University of Bialystok, Bialystok, Poland 

RESUMEN / SUMMARY: - The altered expression pattern of miRNAs might potentially reflect anomalies related to foetal chromosomal aberrations. The aim of the study was to determine the expression level of miRNAs in plasma of pregnant women with foetal Down syndrome (DS). Out of 198 amniocentesis performed at 15-18 weeks of gestation, within a group of 12 patients with foetal DS and 12 patients with uncomplicated pregnancies, who delivered healthy newborns at term, we examined the expression level of 800 miRNAs using the NanoString technology. Our study revealed that there are 6 miRNAs were upregulated (hsa-miR-15a, hsa-let-7d, hsa-miR-142, hsa-miR-23a, hsa-miR-199, hsa-miR-191) and 7 were downregulated (hsa-miR-1290, hsa-miR-1915, hsa-miR30e, hsa-miR-1260, hsa-miR-483, hsa-miR-548, hsa-miR-590) in plasma samples of women with foetal DS syndrome. The genes regulated by identified miRNAs are involved in central nervous system development, congenital abnormalities and heart defects. The results of the present study yielded information on DS-specific miRNA expression signature, which can further help to design a panel of miRNAs as a non-invasive test for DS diagnosis. We believe that identified miRNAs may attend in the pathogenesis of DS and would potentially make a significant role for the future preventive therapies.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Bone mineral density from early to middle adulthood in persons with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Feb 18. doi: 10.1111/jir.12608.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12608

AUTORES / AUTHORS: - Tang JYM et al

INSTITUCIÓN / INSTITUTION: - Sau Po Centre on Ageing, The University of Hong Kong, Hong Kong.; Department of Social Work and Social Administration, The University of Hong Kong, Hong Kong. 

RESUMEN / SUMMARY: - While accelerated ageing is recognised among individuals with Down syndrome (DS), the trajectory of their bone health across adulthood remains poorly understood. METHODS: This study aimed to determine the age-related loss of bone mineral density (BMD) of the lumbar spine in 128 adults with DS aged 18 to 54 years compared with 723 counterparts without DS. RESULTS: Men and women with DS had lower level of BMD than counterparts without DS across age groups. Magnitude of decrement in BMD as reflected in the z-scores was similar between younger and older men with DS. Older women with DS, on the contrary, showed greater decrement in older ages especially in their fourth decade of life. Osteopenia and osteoporosis as defined using age-specific and gender-specific T-scores affected greater number of men with DS (38% and 25%) than women (17% and 17%) aged 40-49 years. CONCLUSIONS: Findings supported adults with DS, especially men, to have early bone mineral testing.

TÍTULO / TITLE:   - Trisomy 21 in forensic autopsies: Review of a 20-year period.

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REVISTA / JOURNAL:    - Forensic Sci Int. 2019 Apr;297:302-306. doi: 10.1016/j.forsciint.2019.02.018. Epub 2019 Feb 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.forsciint.2019.02.018

AUTORES / AUTHORS: - Holz F; ... Birngruber CG;

INSTITUCIÓN / INSTITUTION: - Insitute of Legal Medicine, Justus Liebig University, Giessen, Germany. 

RESUMEN / SUMMARY: - Trisomy 21 is the most common human chromosomal abnormality. Its manifestation includes intellectual impairment and more or less typical anatomical malformations and functional deficiencies that can cause sudden or unexpected deaths. Typical medicolegal questions at autopsy are related to medical malpractice, improper care, neglect, or abuse, and, depending on the cause of death, whether the death might have been avoidable. The aim of this study was to examine whether the causes of death in individuals with trisomy 21 were linked to the known health risks for this condition and to consider how these deaths might have been prevented. MATERIAL AND METHODS: A retrospective study was performed at the Institutes for Legal Medicine in Giessen and Frankfurt am Main, Hesse, Germany. All records for forensic autopsy cases within a 20-year period from 1998 to 2017 were reviewed for the diagnosis trisomy 21”, respectively, “Down’s syndrome”. RESULTS: Twenty-three cases complied with the inclusion criteria trisomy 21 and autopsy. The age of the deceased ranged from 23 days to 61 years. Infectious diseases, mainly respiratory, were the leading cause of death, followed by accidental deaths. CONCLUSION: The medicolegal relevance of the known health risks in Down’s syndrome could be illustrated by the autopsy findings and the results of the additional examinations. The known high susceptibility to infections, with an increased risk of a rapid course and lethal outcome, in individuals with Down’s syndrome could be confirmed in our study. A sound knowledge of the risks and abnormalities associated with trisomy 21 are helpful in medicolegal assessments, particularly, in relation to medical malpractice charges.

TÍTULO / TITLE:   - Umbilical artery pulsatility index and half-peak systolic velocity deceleration time in fetuses with trisomy 21.

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REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2019 Feb 10:1-7. doi: 10.1080/14767058.2019.1575357.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2019.1575357

AUTORES / AUTHORS: - Bustos JC; et al.

INSTITUCIÓN / INSTITUTION: - a Ultrasound Unit, Department of Obstetrics and Gynecology , San Juan de Dios Hospital, University of Chile , Santiago , Chile. 

RESUMEN / SUMMARY: - To analyze placental vascular resistance and the role of placental insufficiency in the etiology of reduced fetal growth in fetuses with trisomy 21 as determined by umbilical artery (UA) Doppler velocimetry. METHODS: Second- and third-trimester UA Doppler ultrasound studies were performed in fetuses with trisomy 21 at the time of clinically indicated obstetric ultrasound assessment. The UA pulsatility index (PI) and half-peak systolic velocity deceleration time (hPSV-DT) were measured and recorded. Perinatal outcome was reviewed and the results from UA Doppler velocimetry were compared with birthweight according to gestational age at the time of the delivery. RESULTS: A total of 60 fetuses with trisomy 21 were studied and information from 147 UA Doppler studies was analyzed. Overall, at least one of the UA PI and hPSV-DT values was abnormal in 82% (n = 49) and 90% (n = 54) of the cases, respectively. The incidence of abnormal UA PI values increased with gestational age from 39% (7/18) before 21 weeks to 78% (18/23) after 35 weeks (p < .05). The increase was even more evident for UA hPSV-DT values from 28% (5/18) before 20 weeks to 91% (21/23) after 35 weeks (p < .01). After exclusion of four fetuses with hydrops or isolated hydrothorax/ascites, 16 (29%) were classified at birth as small for gestational age (SGA), 34 (61%) as adequate for gestational age, and six (11%) as large for gestational age, with a mean birthweight z-score of -0.36. When only considering the last Doppler ultrasound assessment prior to delivery, UA PI and hPSV-DT values were abnormal in 73% (41/56, mean z-score = +1.72) and 82% (46/56; mean z-score = -2.18) of the cases, respectively. Mean gestational age at delivery and birth weight were significantly lower in the group with abnormal compared to normal UA PI and hPSV-DT values. Similarly, the incidence of SGA fetuses was significantly higher in the group with abnormal compared to normal UA PI and hPSV-DT values, with 94 (n = 15) and 100% of th

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Successful Treatment With ATRA and Arsenic Trioxide for a Child With Down Syndrome and Acute Promyelocytic Leukemia.

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2019 Feb 22. doi: 10.1097/MPH.0000000000001438.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000001438

AUTORES / AUTHORS: - Tsumura Y; et al.

INSTITUCIÓN / INSTITUTION: - Children’s Cancer Center, National Center for Child Health and Development, Tokyo, Japan. 

RESUMEN / SUMMARY: - Acute promyelocytic leukemia (APL) is rare in patients with Down syndrome (DS). Cytotoxic chemotherapy combined with all-trans retinoic acid (ATRA) has been a standard treatment for APL, but is potentially intolerable for DS patients because of their vulnerability to cytotoxic agents. We report here a case of a 10-year-old girl with DS and APL successfully treated with a combination of ATRA and arsenic trioxide, a therapy emerging as a new standard for APL. She achieved molecular remission and completed the therapy without significant toxicities. ATRA/arsenic trioxide combination therapy would be a preferable option for DS patients with APL.

TÍTULO / TITLE:   - Need for new thinking: Treatment of relapsed leukemia in children with Down syndrome.

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2019 Feb 5:e27644. doi: 10.1002/pbc.27644.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pbc.27644

AUTORES / AUTHORS: - Rabin K; Izraeli S;Rina Zaizov

INSTITUCIÓN / INSTITUTION: - Texas Children’s Cancer Center Division of Pediatric Hematology/Oncology, Baylor College of Medicine, Houston, Texas. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Death of a Fetus With Myeloproliferative Disorder and Trisomy 21.

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REVISTA / JOURNAL:    - J Am Osteopath Assoc. 2019 Mar 1;119(3):208-211. doi: 10.7556/jaoa.2019.032.

Enlace a la Editora de la Revista http://dx.doi.org/10.7556/jaoa.2019.032

AUTORES / AUTHORS: - Prentice D et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - A 27-year-old woman, gravida 2, para 1, presented at 24 weeks gestation with an intrauterine death. She previously consulted with maternal-fetal medicine because of a high suspicion of trisomy 21 after abnormal maternal serum screen and cell-free DNA test results. The patient elected to have chromosomal analysis following the death of the fetus, which confirmed a trisomy 21 diagnosis. Placental pathologic findings suggested that the cause of fetal death was total occlusion of the major vessels due to the accumulation of myeloid precursor cells, a novel mechanism. This case report discusses the rare finding of myeloproliferative disorder as a cause of death of a fetus with trisomy 21.

TÍTULO / TITLE:   - Development of acute lymphoblastic leukemia following treatment for acute myeloid leukemia in children with Down syndrome: A case report and retrospective review of Children’s Oncology Group acute mye

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2019 Mar 25:e27700. doi: 10.1002/pbc.27700.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pbc.27700

AUTORES / AUTHORS: - Murphy BR et al

INSTITUCIÓN / INSTITUTION: - M. D. Anderson Children’s Cancer Hospital, University of Texas, Houston, Texas. 

RESUMEN / SUMMARY: - Children with Down syndrome have a 150-fold increased risk of developing acute myeloid leukemia (AML) and 20-fold increased risk of developing acute lymphoblastic leukemia (ALL). Although the risk of developing AML and ALL is significantly increased in children with Down syndrome, the development of both malignancies in the same patient is very rare. We describe a patient with Down syndrome who developed ALL 6 years after being diagnosed with AML. We performed a literature review and Children’s Oncology Group query and discovered eight published cases and five cases of ALL following AML in pediatric patients with Down syndrome, as well as six cases of ALL following AML in non-Down syndrome patients. There was a similar cumulative incidence of ALL after treatment for AML in the Down syndrome and non-Down syndrome populations. Overall survival in patients with Down syndrome who developed ALL after treatment for AML was comparable to overall survival for patients with Down syndrome with de novo ALL with an average follow-up of 7 years after ALL diagnosis. Clinical data collected were used to discuss whether this phenomenon represents a secondary leukemia, second primary cancer, or mixed-lineage leukemia.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Norwegian Scabies in a Patient with Down Syndrome.

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REVISTA / JOURNAL:    - J Pediatr. 2019 Mar 7. pii: S0022-3476(19)30157-X. doi: 10.1016/j.jpeds.2019.01.057.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2019.01.057

AUTORES / AUTHORS: - Lee K; et al, Heresi G; Al Hammoud R;

INSTITUCIÓN / INSTITUTION: - University of California San Diego, Rady Children’s Hospital San Diego, San Diego, California. The University of Texas Health Science Center, McGovern Medical School, Pediatric Infectious Diseases Division, Houston, Texas. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide.

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REVISTA / JOURNAL:    - Clin Chim Acta. 2019 Mar 16. pii: S0009-8981(19)31719-X. doi: 10.1016/j.cca.2019.03.1614.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cca.2019.03.1614

AUTORES / AUTHORS: - Orro E; .... Uibo R;

INSTITUCIÓN / INSTITUTION: - Department of Immunology, Institute of Biomedicine and Translational Medicine, University of Tartu, Ravila 19, Tartu 50411, Estonia 

RESUMEN / SUMMARY: - The association between Down syndrome (DS), a genetic disorder resulting from trisomy of the 21st chromosome, and the autoantibodies of rheumatoid arthritis (RA) has been proposed but not unequivocally proven. The aim of this study was to determine whether adult patients with DS present higher levels of anti-cyclic citrullinated peptide (anti-CCP) antibodies and/or rheumatoid factor (RF) than the general population. Our results showed that none of the 68 patients with DS had anti-CCP antibodies, whereas among 204 age- and sex-matched controls these autoantibodies were present in one person. However, DS patients presented a higher number of RF positive cases than controls (11.7% to 3.2% respectively; Fisher’s exact test, p=.027). The higher number of RF positive cases in the DS group without increase of anti-CCP antibodies may be indicative of immune disturbances in general rather than RA in these patients. Our study supports the view that RA does not occur with higher frequency in patients with DS than in the general population.

TÍTULO / TITLE:   - Trisomy 21 in forensic autopsies: Review of a 20-year period.

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REVISTA / JOURNAL:    - Forensic Sci Int. 2019 Apr;297:302-306. doi: 10.1016/j.forsciint.2019.02.018. Epub 2019 Feb 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.forsciint.2019.02.018

AUTORES / AUTHORS: - Holz F; ... Birngruber CG;

INSTITUCIÓN / INSTITUTION: - Insitute of Legal Medicine, Justus Liebig University, Giessen, Germany. 

RESUMEN / SUMMARY: - Trisomy 21 is the most common human chromosomal abnormality. Its manifestation includes intellectual impairment and more or less typical anatomical malformations and functional deficiencies that can cause sudden or unexpected deaths. Typical medicolegal questions at autopsy are related to medical malpractice, improper care, neglect, or abuse, and, depending on the cause of death, whether the death might have been avoidable. The aim of this study was to examine whether the causes of death in individuals with trisomy 21 were linked to the known health risks for this condition and to consider how these deaths might have been prevented. MATERIAL AND METHODS: A retrospective study was performed at the Institutes for Legal Medicine in Giessen and Frankfurt am Main, Hesse, Germany. All records for forensic autopsy cases within a 20-year period from 1998 to 2017 were reviewed for the diagnosis trisomy 21”, respectively, “Down’s syndrome”. RESULTS: Twenty-three cases complied with the inclusion criteria trisomy 21 and autopsy. The age of the deceased ranged from 23 days to 61 years. Infectious diseases, mainly respiratory, were the leading cause of death, followed by accidental deaths. CONCLUSION: The medicolegal relevance of the known health risks in Down’s syndrome could be illustrated by the autopsy findings and the results of the additional examinations. The known high susceptibility to infections, with an increased risk of a rapid course and lethal outcome, in individuals with Down’s syndrome could be confirmed in our study. A sound knowledge of the risks and abnormalities associated with trisomy 21 are helpful in medicolegal assessments, particularly, in relation to medical malpractice charges.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.

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REVISTA / JOURNAL:    - Front Genet. 2019 Feb 6;10:41. doi: 10.3389/fgene.2019.00041. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fgene.2019.00041

AUTORES / AUTHORS: - Babic Bozovic I; et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Biology and Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia. 

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common chromosomal abnormalities associated with congenital heart defects (CHD), with approximately 40 to 60% of cases showing cardiac defects. This study assessed (i) the association between maternal LINE-1 methylation and the occurrence of CHDs in children with DS and (ii) the impact of endogenous maternal factors (MTHFR C677T polymorphism and maternal age) and exogenous maternal factors (cigarette smoking, alcohol intake, medication use, body mass index and dietary habits such as folate intake) on maternal LINE-1 methylation and on the occurrence of CHD in children with DS. Patients and Methods: The study included 90 mothers of children with DS of maternal origin (49% DS-CHD(+) mothers/51% DS-CHD(-) mothers). LINE-1 DNA methylation was analyzed in peripheral blood lymphocytes by quantification of LINE-1 methylation using the MethyLight method. MTHFR C677T polymorphism genotyping was performed using PCR-RFLP. Results: LINE-1 methylation was not significantly different between DS-CHD(+) and DS-CHD(-) mothers (P = 0.997). Combination of MTHFR C677T genotype/diet and BMI were significant independent predictors of LINE-1 DNA methylation in DS-CHD(+) mothers (beta -0.40, P = 0.01 and beta -0.32, P = 0.03, respectively). In the analyzed multivariate model (model P = 0.028), these two factors explained around 72% of the variance in LINE-1 DNA methylation in mothers of children with DS and CHD. The group with the highest BMI (>/=30 kg/m2) had significantly lower LINE-1 methylation than the group with normal BMI (Bonferroni post hoc P = 0.03) and the overweight group (Bonferroni post hoc P = 0.04). The lowest LINE-1 DNA methylation values were found in DS-CHD(+) mothers with the CT+TT genotype and a low-folate diet; the values were significantly lower than the values in mothers with the CC genotype and a folate-rich diet (Bonferroni post hoc P = 0.04). Conclusion: Association between maternal LINE-1 methylation and CHD in children with

TÍTULO / TITLE:   - The Shape of Mitochondrial Dysfunction in Down Syndrome.

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REVISTA / JOURNAL:    - Dev Neurobiol. 2019 Mar 4. doi: 10.1002/dneu.22673.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/dneu.22673

AUTORES / AUTHORS: - Zamponi E; Helguera PR

INSTITUCIÓN / INSTITUTION: - Instituto de Investigacion Medica Mercedes y Martin Ferreyra, INIMEC-CONICET-UNC, Cordoba, Argentina 

RESUMEN / SUMMARY: - Oxidative stress (OS) and mitochondrial dysfunction (MD) have been extensively studied and defined as therapeutic targets in Down syndrome (DS). Though originally associated to individual genes located in supernumerary chromosome 21, OS and MD metabolic compromises appear to be linked to whole genome functionally defined transcriptional fingerprints that further exacerbate the contribution of critical genes in DS-AD pathology. As the main ROS generator, mitochondrial complex double-membrane organization, tightly regulated fission/fusion dynamics, and involvement in critical pathways, makes it particularly vulnerable to functional alterations. Consequently, mitochondrial network morphology depends on its metabolic state and has been used as an indicator of cellular homeostasis. Initial qualitative categorization, suitable for sparse arranged fragments analysis, were proven to be ineffective to measure network connectivity and replaced by innovative tools that involve the transformation of raw images to linear skeletons. These manipulations allowed the development of a new generation of structural parameters, such as mean degree value (MDV). Alterations in DS mitochondrial networks include increased frequency of aberrant morphologies, shorter mitochondrial fragments, and significantly lower mitochondrial network connectivity. Similar structural and functional mitochondrial defects are common to other neurodegenerative diseases, such as Parkinson disease and Prion disease, and to a progeroid syndrome like HGPS. Therapeutic interventions aimed to either increase mitochondrial biogenesis or diminish OS using mitochondrial-targeted antioxidants, successfully restored mitochondrial activity and structural organization, confirming the strong correlation between network form and function.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - CPEB1 is overexpressed in neurons derived from Down syndrome IPSCs and in the hippocampus of the mouse model Ts1Cje.

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REVISTA / JOURNAL:    - Mol Cell Neurosci. 2019 Mar;95:79-85. doi: 10.1016/j.mcn.2019.02.002. Epub 2019 Feb 11.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.mcn.2019.02.002

AUTORES / AUTHORS: - Casanas JJ; ... Montesinos ML;

INSTITUCIÓN / INSTITUTION: - Departamento de Fisiologia Medica y Biofisica, Universidad de Sevilla, Sevilla, España; Instituto de Biomedicina de Sevilla, IBIS/Hospital Universitario Virgen del Rocio/CSIC/Universidad de Sevilla, Sevilla, España.  

RESUMEN / SUMMARY: - Trisomy 21, also known as Down syndrome (DS), is the most frequent genetic cause of intellectual impairment. In mouse models of DS, deficits in hippocampal synaptic plasticity have been observed, in conjunction with alterations to local dendritic translation that are likely to influence plasticity, learning and memory. Here we show that expression of a local translational regulator, the Cytoplasmic Polyadenylation Element Binding Protein 1 (CPEB1), is enhanced in hippocampal neurons from the Ts1Cje DS mouse model. Interestingly, this protein, which is also involved in dendritic mRNA transport, is overexpressed in dendrites of neurons derived from DS human induced pluripotent stem cells (hIPSCs). Moreover, there is an increase in the mRNA levels of alpha-Calmodulin Kinase II (alpha-CaMKII) and Microtubule-associated protein 1B (MAP1B), two dendritic mRNAs, in Ts1Cje synaptoneurosomes. Taking into account the fundamental role of CPEB1 protein and its target mRNAs in synaptic plasticity, these data could be relevant to the intellectual impairment in the context of DS.

TÍTULO / TITLE:   - Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model.

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REVISTA / JOURNAL:    - Int J Neurosci. 2019 Feb 18:1-11. doi: 10.1080/00207454.2019.1580280.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/00207454.2019.1580280

AUTORES / AUTHORS: - Lee HC et al

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

RESUMEN / SUMMARY: - AIMS: The JAK-STAT signalling pathway is one of the key regulators of pro-gliogenesis process during brain development. Down syndrome (DS) individuals, as well as DS mouse models, exhibit an increased number of astrocytes, suggesting an imbalance of neurogenic-to-gliogenic shift attributed to dysregulated JAK-STAT signalling pathway. The gene and protein expression profiles of JAK-STAT pathway members have not been characterised in the DS models. Therefore, we aimed to profile the expression of Jak1, Jak2, Stat1, Stat3 and Stat6 at different stages of brain development in the Ts1Cje mouse model of DS. METHODS: Whole brain samples from Ts1Cje and wild-type mice at embryonic day (E)10.5, E15, postnatal day (P)1.5; and embryonic cortex-derived neurospheres were collected for gene and protein expression analysis. Gene expression profiles of three brain regions (cerebral cortex, cerebellum and hippocampus) from Ts1Cje and wild-type mice across four time-points (P1.5, P15, P30 and P84) were also analysed. RESULTS: In the developing mouse brain, none of the Jak/Stat genes were differentially expressed in the Ts1Cje model compared to wild-type mice. However, Western blot analyses indicated that phosphorylated (p)-Jak2, p-Stat3 and p-Stat6 were downregulated in the Ts1Cje model. During the postnatal brain development, Jak/Stat genes showed complex expression patterns, as most of the members were downregulated at different selected time-points. Notably, embryonic cortex-derived neurospheres from Ts1Cje mouse brain expressed lower Stat3 and Stat6 protein compared to the wild-type group. CONCLUSION: The comprehensive expression profiling of Jak/Stat candidates provides insights on the potential role of the JAK-STAT signalling pathway during abnormal development of the Ts1Cje mouse brains.

TÍTULO / TITLE:   - Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome.

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REVISTA / JOURNAL:    - J Mol Neurosci. 2019 Feb 13. pii: 10.1007/s12031-019-01275-2. doi: 10.1007/s12031-019-01275-2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12031-019-01275-2

AUTORES / AUTHORS: - Yusof HH; et al.

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

RESUMEN / SUMMARY: - Notch signalling pathway is involved in the proliferation of neural progenitor cells (NPCs), to inhibit neuronal cell commitment and to promote glial cell fate. Notch protein is cleaved by gamma-secretase, a multisubunit transmembrane protein complex that releases the Notch intracellular domain (NICD) and subsequently activates the downstream targets. Down syndrome (DS) individuals exhibit an increased number of glial cells (particularly astrocytes), and reduced number of neurons suggesting the involvement of Notch signalling pathway in the neurogenic-to-gliogenic shift in DS brain. Ts1Cje is a DS mouse model that exhibit similar neuropathology to human DS individuals. To date, the spatiotemporal gene expression of the Notch and gamma-secretase genes have not been characterised in Ts1Cje mouse brain. Understanding the expression pattern of Notch and gamma-secretase genes may provide a better understanding of the underlying mechanism that leads to the shift. Gene expression analysis using RT-qPCR was performed on early embryonic and postnatal development of DS brain. In the developing mouse brain, mRNA expression analysis showed that gamma-secretase members (Psen1, Pen-2, Aph-1b, and Ncstn) were not differentially expressed. Notch2 was found to be downregulated in the developing Ts1Cje brain samples. Postnatal gene expression study showed complex expression patterns and Notch1 and Notch2 genes were found to be significantly downregulated in the hippocampus at postnatal day 30. Results from RT-qPCR analysis from E15.5 neurosphere culture showed an increase of expression of Psen1, and Aph-1b but downregulation of Pen-2 and Ncstn genes. Gamma-secretase activity in Ts1Cje E15.5 neurospheres was significantly increased by fivefold. In summary, the association and the role of Notch and gamma-secretase gene expression throughout development with neurogenic-to-gliogenic shift in Ts1Cje remain undefined and warrant further validation.

TÍTULO / TITLE:   - Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models.

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REVISTA / JOURNAL:    - Sci Rep. 2019 Mar 8;9(1):3914. doi: 10.1038/s41598-019-40328-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-019-40328-9

AUTORES / AUTHORS: - Souchet B; ...Delabar JM;

INSTITUCIÓN / INSTITUTION: - Universite Paris-Diderot, Sorbonne Paris Cite, Adaptive Functional Biology, National Centre for Scientific Research (CNRS), UMR 8251, Paris, France.  

RESUMEN / SUMMARY: - Down syndrome is a common genetic disorder caused by trisomy of chromosome 21. Brain development in affected foetuses might be improved through prenatal treatment. One potential target is DYRK1A, a multifunctional kinase encoded by chromosome 21 that, when overexpressed, alters neuronal excitation-inhibition balance and increases GAD67 interneuron density. We used a green tea extract enriched in EGCG to inhibit DYRK1A function only during gestation of transgenic mice overexpressing Dyrk1a (mBACtgDyrk1a). Adult mice treated prenatally displayed reduced levels of inhibitory markers, restored VGAT1/VGLUT1 balance, and rescued density of GAD67 interneurons. Similar results for gabaergic and glutamatergic markers and interneuron density were obtained in Dp(16)1Yey mice, trisomic for 140 chromosome 21 orthologs; thus, prenatal EGCG exhibits efficacy in a more complex DS model. Finally, cognitive and behaviour testing showed that adult Dp(16)1Yey mice treated prenatally had improved novel object recognition memory but do not show improvement with Y maze paradigm. These findings provide empirical support for a prenatal intervention that targets specific neural circuitries.

Neurology - Neurología

TÍTULO / TITLE:   - Brain stem infarction in a 6-year-old boy with Down syndrome.

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REVISTA / JOURNAL:    - Brain Dev. 2019 Mar 8. pii: S0387-7604(18)30640-5. doi: 10.1016/j.braindev.2019.02.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2019.02.013

AUTORES / AUTHORS: - Imagi T; ... Matsuishi T;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, St Mary’s Hospital, Japan; Research Center for Children and Research Center for Rett Syndrome, St Mary’s Hospital, Japan. 

RESUMEN / SUMMARY: - Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS until now. Here, we report a case of brain stem infarction in a 6-year-old boy with DS who had no cardiac, renal, or intestinal complications. He exhibited ataxic gait and medial longitudinal fasciculus (MLF) symptoms at first presentation. Neuroimaging revealed a localized and isolated lesion in the midbrain. Although he did not satisfy the diagnostic criteria of APS, he showed persistently elevated levels of anticardiolipin antibody (21U/mL; normal value <10U/mL). Although he had the risks of a multiple vascular systems disorder, DS, and persistently elevated levels of antiphospholipid antibodies, his lesion was not similar to any of the previously reported cerebral infarctions in DS or in APS. To our knowledge, this is the first report of limited solitary brain stem infarction in a child with DS.

TÍTULO / TITLE:   - Dynamic Causal Modeling of the Relationship between Cognition and Theta-alpha Oscillations in Adults with Down Syndrome.

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REVISTA / JOURNAL:    - Cereb Cortex. 2019 Mar 16. pii: 5382204. doi: 10.1093/cercor/bhz043.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/cercor/bhz043

AUTORES / AUTHORS: - Hamburg S;.... Strydom A

INSTITUCIÓN / INSTITUTION: - Division of Psychiatry, Faculty of Brain Sciences, University College London, 149 Tottenham Court Road, London, UK.; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, Kings College 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) show high inter-subject variability in cognitive ability and have an ultra-high risk of developing dementia (90% lifetime prevalence). Elucidating factors underlying variability in cognitive function can inform us about intellectual disability (ID) and may improve our understanding of factors associated with later cognitive decline. Increased neuronal inhibition has been posited to contribute to ID in DS. Combining electroencephalography (EEG) with dynamic causal modeling (DCM) provides a non-invasive method for investigating excitatory/inhibitory mechanisms. Resting-state EEG recordings were obtained from 36 adults with DS with no evidence of cognitive decline. Theta-alpha activity (4-13 Hz) was characterized in relation to general cognitive ability (raw Kaufmann’s Brief Intelligence Test second Edition (KBIT-2) score). Higher KBIT-2 was associated with higher frontal alpha peak amplitude and higher theta-alpha band power across distributed regions. Modeling this association with DCM revealed intrinsic self-inhibition was the key network parameter underlying observed differences in 4-13 Hz power in relation to KBIT-2 and age. In particular, intrinsic self-inhibition in right V1 was negatively correlated with KBIT-2. Results suggest intrinsic self-inhibition within the alpha network is associated with individual differences in cognitive ability in adults with DS, and may provide a potential therapeutic target for cognitive enhancement.

TÍTULO / TITLE:   - Multiple Cerebral Hemorrhagic Lesions Depicted by Susceptibility-Weighted Imaging in a Patient with Down Syndrome: Case Report.

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REVISTA / JOURNAL:    - J Stroke Cerebrovasc Dis. 2019 Feb 20. pii: S1052-3057(19)30033-3. doi: 10.1016/j.jstrokecerebrovasd

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.01.024

AUTORES / AUTHORS: - Yanai K; et al

INSTITUCIÓN / INSTITUTION: - Department of Neurosurgery, Teikyo University Chiba Medical Center, Ichihara, Chiba, Japan.  

RESUMEN / SUMMARY: - Our objective is to study a 53-year-old woman with Down syndrome presented with massive lobar hematoma in the left fronto-parietal lobe, and who underwent craniotomy and hematoma evacuation. Histopathological diagnosis of surgical specimen was amyloid angiopathy. Postoperative magnetic resonance studies were performed. The lesion this time showed mixed intensity on susceptibility-weighted imaging. In addition, multiple hypointense lesions were evident. An old previously unidentified hemorrhage in the right temporo-parietal lobe was accompanied by superficial cortical siderosis. Old bleeds were apparent in subcortical areas. These various kinds of hemorrhagic lesion were consistent with findings of amyloid angiopathy reported in the elderly. Most reported cases of Down syndrome associated with intracerebral hemorrhage have involved middle-aged patients. Magnetic resonance studies for Down syndrome patients before old age may disclose the degree to which amyloid angiopathy progresses in the brain of these patients.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Visual assessment in Down Syndrome: The relevance of early visual functions.

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REVISTA / JOURNAL:    - Early Hum Dev. 2019 Apr;131:21-28. doi: 10.1016/j.earlhumdev.2019.01.020. Epub 2019 Feb 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.earlhumdev.2019.01.020

AUTORES / AUTHORS: - Purpura G; ... Cioni G;

INSTITUCIÓN / INSTITUTION: - Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. 

RESUMEN / SUMMARY: - Children with Down Syndrome (DS) have a high prevalence of ocular disorders, and even when ophthalmological deficits (i.e. refractive errors or strabismus) are corrected, visual acuity seems to have a different developmental trend compared to typical children. Unfortunately, there is no consensus about the age at which it is fundamental to perform a first comprehensive visual assessment in this population. AIMS: We analyzed early visual functions in a sample of 42 Italian children with DS, in order to achieve new insights for early surveillance and intervention. MATERIAL AND METHODS: DS children were evaluated with the Early Neurovisual Assessment, including Teller Acuity Cards (at 6, 12 and 18months of age) and the Pediatric Ophthalmological Examination (within the 36th months of age). RESULTS: Visual acuity in our sample was lower than findings reported in the literature on healthy Italian children, but the values were within the confidence interval reported in previous studies on DS children. Moderate or severe refractive errors (> 3diopters) were present in five children (four had hyperopia and one myopia). Abnormalities in ocular motility were observed in 15 children and pathological findings for fundus oculi or lens were found in another eight. Furthermore, ophthalmological findings correlated with visual acuity at 18months of age. CONCLUSION: According to our results, the Early Neurovisual Assessment at 18months of life is a reliable tool for early detection of visual disorders in children with DS and it is useful for programming early intervention to promote their neurodevelopment.

TÍTULO / TITLE:   - Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome.

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REVISTA / JOURNAL:    - Ophthalmic Genet. 2019 Feb;40(1):86. doi: 10.1080/13816810.2019.1582070.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/13816810.2019.1582070

AUTORES / AUTHORS: - Le Grignou M; et al

INSTITUCIÓN / INSTITUTION: - Service d’Ophtalmologie, Hotel Dieu , Nantes , France. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Near vision in individuals with Down syndrome: a vision screening study.

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REVISTA / JOURNAL:    - Eye (Lond). 2019 Mar 26. pii: 10.1038/s41433-019-0402-6. doi: 10.1038/s41433-019-0402-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41433-019-0402-6

AUTORES / AUTHORS: - Satgunam P; et al

INSTITUCIÓN / INSTITUTION: - Brien Holden Institute of Optometry and Vision Sciences, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India.  

RESUMEN / SUMMARY: - Children with Down syndrome are known to have reduced focusing ability for near vision (hypoaccommodation). Through a vision screening study we investigated the correlation between hypoaccommodation and near visual acuity in individuals with Down syndrome. METHODS: A cross-sectional vision screening study was conducted on individuals with Down Syndrome. The screening was done in 4 city schools and 1 screening was conducted as a part of the Special Olympics Bharat program. In addition to the conventional vision screening tests, Nott dynamic retinoscopy was also performed. Both adults and children (age < 18 years) were included. RESULTS: A total of 55 participants (33 children: age 6 to 17 years, 22 adults: age 18 to 41 years) with Down syndrome were screened. Twenty-two participants had visual impairment. Accommodative accuracy was assessed in 29 children and 13 adults. Accommodative lag ( >/=1.00D) was present in 12 children (41.37%) and 7 adults (53.84%). No correlation was found between the lag of accommodation and near visual acuity (rhoSpearman = 0.15, p = 0.54). LogMAR near visual acuity was inversely correlated (rhoSpearman = -0.841, p < 0.001) to the near viewing distance. CONCLUSION: Near visual acuity by itself is not a sensitive indicator of accommodative dysfunction. In addition, a closer viewing distance may not indicate adequate amplitude of accommodation. These findings strongly suggest the need for including dynamic retinoscopy in the clinical practice while examining individuals with Down syndrome.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Occipitocervical or C1-C2 fusion using allograft bone in pediatric patients with Down syndrome 8 years of age or younger.

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REVISTA / JOURNAL:    - J Pediatr Orthop B. 2019 Mar 6. doi: 10.1097/BPB.0000000000000622.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/BPB.0000000000000622

AUTORES / AUTHORS: - Ando K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan. 

RESUMEN / SUMMARY: - Sufficient internal fixation for occipitocervical (OC) or C1-C2 instability in pediatric patients with Down syndrome is difficult owing to small osseous structures, congenital deformities, and immature ossification. The purpose of this study was to evaluate the clinical outcomes of patients aged 8 years or younger with Down syndrome who underwent OC or C1-C2 fusion using freeze-dried allograft as bone graft substitute. The participants included seven consecutive patients aged 8 years or younger with Down syndrome who were treated for upper cervical disorders with posterior OC or C1-C2 fusion using freeze-dried allografts at our hospital between 2007 and 2016 and had a minimum follow-up of 1 year. Postoperative flexion/extension cervical radiography and computed tomography were repeated at 3 months after surgery before removal of the collar. The modified McCormick scale was used to grade functional status. The seven patients had an age range of 5-8 years (mean: 5.9 years). The mean follow-up period was 36 months (12-120 months). Six patients had os odontoideum and one had basilar invagination. Three patients underwent C1-C2 fusion, and in all cases, bilateral C1 lateral mass screws and bilateral C2 pedicle screws were used. Four patients underwent OC fusion, and in three of these cases, occipital and bilateral pedicle screws were used. One patient underwent reoperation because of occipital screw back-out with autograft; therefore, C2 lamina screws were added to pedicle screws. Solid bony fusion was achieved, and stable constructs were maintained on radiography in all patients, without infection or implant failure. In this study, we used freeze-dried allograft as a bone graft substitute, and we were able to detect bony trabeculae at the graft-recipient interface on lateral cervical radiographs and on reconstructed sagittal computed tomographic images in all patients. These results suggest that use of allograft is effective for treatment of upper cervical spine abnorma

TÍTULO / TITLE:   - Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.

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REVISTA / JOURNAL:    - Eur J Pediatr. 2019 Apr;178(4):559-564. doi: 10.1007/s00431-019-03322-x. Epub 2019 Feb 1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-019-03322-x

AUTORES / AUTHORS: - van Gijzen AFM et al

INSTITUCIÓN / INSTITUTION: - Centre for Infectious Disease Control, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, U 

RESUMEN / SUMMARY: - Guidelines for children with Down syndrome (DS) suggest to perform an annual hip screening to enable early detection of developmental dysplasia of the hip (DDH). How to perform this screening is not described. Delayed detection can result in disabling osteoarthritis of the hip. Therefore, we determined the association between clinical history, physical, and radiological examination in diagnosing DDH in children with DS. Referral centers for children with DS were interviewed to explore variety of hip examination throughout the Netherlands. Clinical features of 96 outclinic children were retrospectively collected. Clinical history was taken, physical examination was performed, and X-ray of the hip was analyzed. All the referral centers performed physical examination and clinical history; however, 20% performed X-ray. Following physical examination according to Galeazzi test 26.9% and to limited abduction 10.8% of the outclinic-studied children were at risk for DDH. Radiological examination showed moderate or severe abnormal deviating migration rate of 14.6% resp. 11.5% in the right and left hip. However, no association between clinical history, physical examination, and radiological examination was found.Conclusion: Clinical history and physical examination are insufficient to timely detect DDH in children with Down syndrome. Thereby regular radiological examination of the hip is advised. What is Known: * Developmental dysplasia of the hip (DDH) in people with Down syndrome (DS) develops during childhood. * Guidelines for medical support of children with DS suggest an annual hip screening to enable early detection of hip damaging. How to perform this annual screening is not described. What is New: * This study shows no association between clinical history, physical and radiological examination of the hip. * We recommend regular radiological examination of the hip in children with DS in order to identify DDH early up to 16 years of age.

TÍTULO / TITLE:   - Atlantoaxial instability management in down syndrome.

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REVISTA / JOURNAL:    - J Neurosurg Sci. 2019 Feb 4. pii: S0390-5616.19.04626-5. doi: 10.23736/S0390-5616.19.04626-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.23736/S0390-5616.19.04626-5

AUTORES / AUTHORS: - Spina A;

INSTITUCIÓN / INSTITUTION: - Department of Neurosurgery and Gamma Knife Radiosurgery, I.R.C.C.S. San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - The relationship between motor performance and femoral cartilage thickness in children with Down syndrome.

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REVISTA / JOURNAL:    - Acta Neurol Belg. 2019 Mar 6. pii: 10.1007/s13760-019-01105-7. doi: 10.1007/s13760-019-01105-7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s13760-019-01105-7

AUTORES / AUTHORS: - Buyukavci R; Buyukavci MA; et al

INSTITUCIÓN / INSTITUTION: - Developmental and Behavioral Pediatrics Unit, Malatya Education and Research Hospital, Malatya, Turkey 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disorder associated with mental and motor developmental delays in childhood. The aim of this study was to investigate the relationship of the femoral cartilage thickness with motor performance in children with Down syndrome (DS). A total of 39 children with DS in the age range of 12-42 months were included in the study (female/male: 21/18; mean age: 23.4 +/- 8.2 months). Femoral cartilage thickness was measured with ultrasound in the medial and lateral condyles and intercondylar areas of both knees. Gross motor subtest scaled scores of the Bayley Scales of Infant and Toddler Development III were used for the motor performance assessment. There was a positive correlation between the gross motor scaled scores and the femoral cartilage thickness in both knee joints (p< .05; r = 0.415 for the right medial condyle; r = 0.323 for the right lateral condyle; r = 0.339 for the right intercondylar area; r = 0.369 for the left medial condyle; r = 0.364 for the left lateral condyle, and r = 0.590 for the left intercondylar area). The study demonstrated that the femoral cartilage thickness was positively correlated with gross motor functioning in children with DS.

TÍTULO / TITLE:   - Outcomes of Surgical Correction of Atlanto-Axial Instability in Patients with Down Syndrome: a Systemic Review and Meta-Analysis.

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REVISTA / JOURNAL:    - World Neurosurg. 2019 Feb 18. pii: S1878-8750(19)30386-9. doi: 10.1016/j.wneu.2019.01.267.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.wneu.2019.01.267

AUTORES / AUTHORS: - Hofler RC; ... Jones GA

INSTITUCIÓN / INSTITUTION: - Department of Neurosurgery, Loyola University Medical Center, Maywood, IL, USA.  

RESUMEN / SUMMARY: - Atlanto-axial instability (AAI) is a common cause of neurologic dysfunction and pain in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. Despite this, optimal treatment strategy is controversial. METHODS: A systematic review of the literature was performed according to the PRISMA statement to identify patients with AAI and DS were treated with upper cervical spine fusion. Patient demographics, preoperative symptoms, fixation type, and outcome measures including complications, neurologic outcomes, and bony fusion status were gathered for the patients in the included publications. Meta-analysis was performed to compare outcomes of different types of fixation constructs. RESULTS: Of the 1191 publications retrieved, 51 met inclusion criteria, yielding 137 patients. Six fixation strategies were identified: non-instrumented (n = 6), wiring (n = 77), wiring with rods (n = 14), screw fixation (n = 33), hook and rod fixation (n = 2), and screw and wire fixation (n = 5). Constructs with screws and rods had greater bony union (p = 0.003) and a lower rate of revision surgery (p = 0.047), loss of reduction or pseudoarthrosis (p = 0.009), halo utilization (p < 0.001), and early neurologic decline (p = 0.004) compared to wiring alone. Constructs with wires and rods had greater bony union (p = 0.036) than wiring alone. CONCLUSIONS: Numerous fixation strategies exist for AAI in patients with DS. Utilizing a combination of screws, rods, and wiring in appropriately selected patients may help reduce the high rate of surgical complications in these patients.

TÍTULO / TITLE:   - Modified Roux-Goldthwait Procedure for Management of Patellar Dislocation in Skeletally Immature Patients with Down Syndrome.

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REVISTA / JOURNAL:    - Indian J Orthop. 2019 Jan-Feb;53(1):122-127. doi: 10.4103/ortho.IJOrtho_505_17.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/ortho.IJOrtho_505_17

AUTORES / AUTHORS: - Ruzzini L; et al.

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedics, Children’s Hospital “Bambino Gesu,” Rome, Italy. 

RESUMEN / SUMMARY: - Patellar instability is a common problem in Down syndrome patients since their childhood. Several treatment have been proposed, but relapses are frequent and not all surgeries are suitable for growing patients. The aim of the present study is to evaluate the clinical and radiographic outcomes of a modified Roux-Goldthwait technique, for the management of patellar instability in children with Down syndrome at minimum 5-year followup. Materials and Methods: 19 patients (23 knees) affected by Down syndrome surgically treated for patellar dislocation, between 2000 and 2012 were included in this study. The mean age of patients was 9.5 years (range 3.7 - 15 years) and had a Dugdale Grade III, IV, and V patellar dislocation. Trochlear groove dysplasia was present in 15 patients. Each patient was clinically evaluated considering relapse rate, pre- and postoperative range of motion (ROM), Kujala score, and modified Lysholm score. Radiographic examination was performed on standard X-ray considering patellar height, trochlear angle, and patellofemoral congruence angle. Results: The mean followup was 134 months (range 62-206 months). No case of relapse of dislocation was registered with an improved ROM (significant for knee extension, P < 0.05). The Kujala score showed significant improvement from a mean preoperative value of 39 +/- 6.3 to a mean postoperative value of 92.7 +/- 3.4 (P < 0.05) at final followup such as the modified Lysholm score (from mean preoperative 55.6 +/- 6.3 to mean postoperative of 94.2 +/- 2.6). Radiographs performed at latest followup showed a tendency to normalization of all the parameters considered, with a restored patellofemoral congruence and trochlear groove shape and without signs of osteoarthritis. Conclusion: The present study showed that the Roux-Goldthwait procedure is a valid surgical option for the treatment of patellar dislocation in children with Down syndrome.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - The effect of acute exercise on the performance of verbal fluency in adolescents and young adults with Down syndrome: a pilot study.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Feb 27. doi: 10.1111/jir.12603.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12603

AUTORES / AUTHORS: - Chen CJJ; Ringenbach SDR

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The high prevalence of cognitive dysfunction is well documented in individuals with Down syndrome. However, only a few studies have focused on the effect of exercise on cognitive performance in this population. In particular, verbal fluency has been shown to be relevant to the early onset of Alzheimer�s disease in individuals with Down syndrome. Thus, this study was aimed at investigating the relationship between acute exercise and verbal fluency in this population. METHODS: It was a pre-post design. Twenty-eight participants (aged 14-31) were assigned to high-intensity exercise (i.e. 70-85% of predicted maximum heart rate) (N = 8), moderate-intensity exercise (i.e. 50-69% of predicted maximum heart rate) (N = 10) or attentional control (N = 10) groups. Two exercise groups walked on a treadmill using an incremental walking protocol, and the attentional control group watched a video for 20 min. Measures of verbal fluency (i.e. semantic fluency and phonetic fluency) were tested pre-intervention and post-intervention. RESULTS: The result showed a quadric trend between semantic fluency and intensity of exercise. The improvement in cognitive performance on semantic fluency test was observed in the moderate-intensity exercise. However, neither a linear trend nor a quadric trend was seen in phonetic fluency. CONCLUSIONS: The result showed an inverted-U relationship between exercise intensity and semantic fluency. A larger sample size, testing time and more reliable psychophysiological measures (e.g. VO2 max and neuroimaging technology), should be considered to explore the underlying mechanisms in this population.

TÍTULO / TITLE:   - Effect of an intervention based on virtual reality on motor development and postural control in children with Down Syndrome

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REVISTA / JOURNAL:    - Rev Chil Pediatr. 2018 Dec;89(6):747-752. doi: 10.4067/S0370-41062018005001202.

Enlace a la Editora de la Revista http://dx.doi.org/10.4067/S0370-41062018005001202

AUTORES / AUTHORS: - Gomez Alvarez N; et al

INSTITUCIÓN / INSTITUTION: - Universidad Adventista de Chile, Chile. 

RESUMEN / SUMMARY: - There are few studies on the effect of a virtual reality-based intervention on motor development and postural control in children with Down Syndrome (DS). OBJECTIVE: To determine the effect of a virtual reality-based intervention on motor development and postural control in children with DS. PATIENTS AND METHOD: Study with a quantitative approach, with a quasi-experimental design, which included 16 children with DS randomly assigned to an experimental group (GWBB, n = 9) and con trol group (GC, n = 7). Postural control was evaluated by the center of pressure displacement and motor development with TGMD-2. The intervention program was carried out for five weeks, two times per week. The data were subjected to statistical analysis, the Shapiro Wilk test for the sample distribution, and the Student’s T-test for the comparison of group means. RESULTS: Significant chan ges were observed in the TGMD-2 Test and its manipulation subtest (p <0.01) respectively. In the rest of the tests, there was an improvement, but no significant differences were observed. CONCLUSION: A virtual reality-based intervention was effective in GWBB, providing low-impact exercises to improve postural control and thus leading to improved motor skills in children with DS.

TÍTULO / TITLE:   - Feasibility and Potential Benefits of an Exercise Intervention in a Male With Down Syndrome Undergoing High-Dose Chemotherapy for Acute Lymphoblastic Leukemia: A Case Report.

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REVISTA / JOURNAL:    - Integr Cancer Ther. 2019 Jan-Dec;18:1534735419832358. doi: 10.1177/1534735419832358.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1534735419832358

AUTORES / AUTHORS: - Buhl L; et al

INSTITUCIÓN / INSTITUTION: - German Sport University Cologne, Germany. 

RESUMEN / SUMMARY: - In patients with hematological malignancies, exercise is studied as a supportive measure with potential benefits on therapy and disease-related side effects. However, clinical trials have not yet integrated people with Down syndrome (DS), although this disability is associated with an increased risk for hematological malignancies. Therefore, we examined safety and feasibility of a mixed-modality exercise intervention in a male with DS undergoing high-dose chemotherapy for acute lymphoblastic leukemia. Furthermore, physical capacity and fatigue were assessed. Exercise sessions took place 3 times/wk over a 5-week period. Adherence to the exercise program was 100%, and no serious adverse events occurred. In contrast to the training sessions, applied endurance testing was not feasible. Furthermore, maintenance of fatigue level was observed. In conclusion, cancer patients with DS suffering from leukemia should not be excluded from physical activity or exercise programs.

TÍTULO / TITLE:   - Physical therapy in Down syndrome: systematic review and meta-analysis.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Feb 20. doi: 10.1111/jir.12606.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12606

AUTORES / AUTHORS: - Ruiz-Gonzalez L et al.

INSTITUCIÓN / INSTITUTION: - Department of Statistics and Operational Research, University of Cadiz, Cadiz, España. Institute of Research and Innovation in Biomedical Sciences of the Province of Cadiz (INiBICA), University of Cadiz, Cadiz, España.;  

RESUMEN / SUMMARY: - Down syndrome is the most common chromosomal abnormality, with a worldwide incidence of around 0.1% in live births. It is related to several conditions in which the physical therapy could take action-preventing co-morbidities. This study aims to evaluate the effectiveness of physical therapy in Down syndrome, to know and compare the effectiveness of different physical therapy interventions in this population. METHODS: A systematic review and a meta-analysis of randomised controlled trials were conducted. The search was performed during June 2018 in the following databases: PubMed, Web of Science, Physiotherapy Evidence Database and Scopus. The studies were selected using predefined inclusion and exclusion criteria. The Physiotherapy Evidence Database scale evaluated the quality of the methods used in the studies. Subsequently, the data were extracted, and statistical analysis was performed when possible. RESULTS: A total of 27 articles were included, of which nine contributed information to the meta-analysis. Statistical analysis showed favourable results for the strength of upper and lower limbs [standardised mean difference (SMD) = 1.46; 95% confidence interval (CI): (0.77-2.15); and SMD = 2.04; 95% CI: (1.07-3.01)] and mediolateral oscillations of balance [SMD = -3.30; 95% CI: (-5.34 to -1.26)]. CONCLUSIONS: The results show the potential benefit of certain types of physical therapy interventions, specifically in strength and balance, in people with Down syndrome. There are still many aspects to clarify and new lines of research.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Predicting Down syndrome and neural tube defects using basic risk factors.

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REVISTA / JOURNAL:    - Med Biol Eng Comput. 2019 Mar 15. pii: 10.1007/s11517-019-01969-0. doi: 10.1007/s11517-019-01969-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s11517-019-01969-0

AUTORES / AUTHORS: - Khattak MT et al.

INSTITUCIÓN / INSTITUTION: - School of Biomedical Engineering and Health Sciences, Universiti Teknologi Malaysia, Johor, Malaysia. 

RESUMEN / SUMMARY: - Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. To solve this issue, this paper explores the practicality of using only the basic risk factors for developing prediction models as a tool for initial risk assessment. The prediction models are based on logistic regression. The results show that the prediction models do not have a high balanced classification rate. However, these models can still be used as an effective tool for initial risk assessment for T-21 and NTDs by eliminating at least 50% of the cases with no or low risk. Graphical Abstract Prenatal Risk Assessment of Trisomy-21 and Neural Tube Defects.

TÍTULO / TITLE:   - Parents’ perspective on having a child with Down Syndrome in France.

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REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Mar 3. doi: 10.1002/ajmg.a.61102.

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AUTORES / AUTHORS: - Bertrand R

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In 2011, Skotko, Levine, and Goldstein asked parents who had children with Down Syndrome (DS) in the United States how they felt about having a child with DS. The purpose of the present study was to ask the same questions to parents living in France so that this information could be shared with new and expectant parents. The results were also compared to the findings of Skotko, Levine, and Goldstein (2011a) to see whether some parental feelings might be universally shared and to discuss the differences observed. This web-based survey was shared with a number of DS organizations and online DS communities. Of the 369 respondents living in France, 99% indicated that they loved their son or daughter with DS; 98% were proud of their child with DS; 78% felt that their outlook on life was more positive because of their son or daughter with DS; 12% felt embarrassed by their child with DS; and 7% expressed regret for having a child with DS. A significant number of respondents admitted that raising a child with DS was not without challenges. Nevertheless, most respondents indicated that their son or daughter with DS had had a positive impact on their life and that of their family and that they were happy to have their child.

TÍTULO / TITLE:   - Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.

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REVISTA / JOURNAL:    - JAMA. Free access to the article (immediately).

Enlace a la Editora de la Revista http://jama.ama-assn.org/search.dtl

AUTORES / AUTHORS: - Seror V; et al.

INSTITUCIÓN / INSTITUTION: - Aix Marseille Univ, IRD, AP-HM, SSA, VITROME, Marseille, France.;  

RESUMEN / SUMMARY: - Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS). Objective: To assess attitudes and decision making in pregnant women facing a risk of fetal DS greater than 1 in 250 as established by combined first trimester screening at 11 to 14 weeks of gestation. Design, Setting, and Participants: Survey study in which data were collected from pregnant women at high risk of fetal DS participating in a randomized clinical trial. Data were collected from April 8, 2014, to April 7, 2016, in 57 prenatal diagnosis centers in France. Data were analyzed in 2018. Interventions: Data on attitudes were collected prior to offering randomization between NIPT and IT, whereas data on decision making and test results were collected as part of the clinical trial. Main Outcome and Measures: The primary outcome related to attitudes. A hierarchical cluster analysis was conducted to identify clusters with contrasting attitudes. Logistic regression analyses were used to identify factors associated with attitudes. Results: All 2436 consecutive women to whom the study was proposed (mean [SD] age, 36.3 [5.0] years) answered the questionnaire: 515 (21.1%) expressed preference toward IT with complete karyotyping, whereas 1843 (75.7%) favored NIPT with almost certain but limited information. Hierarchical cluster analysis yielded 4 different clusters that mainly differed in attitudes toward risk taking and extent of information seeking. Factors likely associated with attitudes driven by risk aversion were mostly age and religious beliefs (adjusted odds ratio [aOR], 1.03; 95% CI, 1.00-1.05; P = .03 and aOR, 1.62; 95% CI, 1.29-2.04; P < .001, respectively), whereas higher nuchal translucency measurements by ultrasonography were associated with attitudes driven by ambiguity aversion (aOR, 1.67; 95% CI, 1.27-2.20; P < .001). For attitudes involving both risk and ambiguity av

TÍTULO / TITLE:   - Prenatal circulating microRNA signatures of foetal Down syndrome.

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REVISTA / JOURNAL:    - Sci Rep. 2019 Feb 20;9(1):2394. doi: 10.1038/s41598-018-35876-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-018-35876-5

AUTORES / AUTHORS: - Zbucka-Kretowska M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Reproduction and Gynaecological Endocrinology, Medical University of Bialystok, Bialystok, Poland. 

RESUMEN / SUMMARY: - The altered expression pattern of miRNAs might potentially reflect anomalies related to foetal chromosomal aberrations. The aim of the study was to determine the expression level of miRNAs in plasma of pregnant women with foetal Down syndrome (DS). Out of 198 amniocentesis performed at 15-18 weeks of gestation, within a group of 12 patients with foetal DS and 12 patients with uncomplicated pregnancies, who delivered healthy newborns at term, we examined the expression level of 800 miRNAs using the NanoString technology. Our study revealed that there are 6 miRNAs were upregulated (hsa-miR-15a, hsa-let-7d, hsa-miR-142, hsa-miR-23a, hsa-miR-199, hsa-miR-191) and 7 were downregulated (hsa-miR-1290, hsa-miR-1915, hsa-miR30e, hsa-miR-1260, hsa-miR-483, hsa-miR-548, hsa-miR-590) in plasma samples of women with foetal DS syndrome. The genes regulated by identified miRNAs are involved in central nervous system development, congenital abnormalities and heart defects. The results of the present study yielded information on DS-specific miRNA expression signature, which can further help to design a panel of miRNAs as a non-invasive test for DS diagnosis. We believe that identified miRNAs may attend in the pathogenesis of DS and would potentially make a significant role for the future preventive therapies.

TÍTULO / TITLE:   - Down’s syndrome screening at 11-14 weeks’ gestation using prenasal thickness and nasal bone length.

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REVISTA / JOURNAL:    - Arch Gynecol Obstet. 2019 Apr;299(4):939-945. doi: 10.1007/s00404-019-05083-2. Epub 2019 Feb 9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00404-019-05083-2

AUTORES / AUTHORS: - Manegold-Brauer G et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks’ gestation. METHODS: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down’s syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio. Information on PT and NBL MoMs was also combined using logistic regression. Results were classified as positive according to whether they were greater than the normal 95th centile for PT, PT/NBL and the DS risk from logistic regression equation or below the 5th centile for NBL. RESULTS: The median value in DS cases and unaffected controls were: PT 1.26 and 0.996 MoM; and NBL 0.596 and 0.993 MoM. The proportion of DS fetuses with positive results was 41% for PT, 65% for NBL, and 82% for both the PT/NBL ratio and DS risk from the logistic regression equation. PT/NBL levels did not vary according to gestational age. CONCLUSION: The PT/NBL ratio is a valuable first trimester DS screening marker that can be easily determined concomitant with the NT measurement.

TÍTULO / TITLE:   - Canadian Pregnant Women’s Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.

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REVISTA / JOURNAL:    - J Obstet Gynaecol Can. 2019 Feb 7. pii: S1701-2163(18)30898-3. doi: 10.1016/j.jogc.2018.11.003.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jogc.2018.11.003

AUTORES / AUTHORS: - Laberge AM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Universite de Montreal, Montreal, QC; Service de genetique medicale, Centre hospitalier universitaire Sainte-Justine, Montreal, QC; Centre de recherche du Centre hospitalier universitaire Sainte-Justine, Montreal,  

RESUMEN / SUMMARY: - This study sought to assess Canadian pregnant women’s and their partners’ preferences for information about non-invasive prenatal testing (NIPT). METHODS: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study. RESULTS: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners’ preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals. CONCLUSION: Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.

TÍTULO / TITLE:   - Experience of mothers with Down syndrome children at the time of diagnosis.

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REVISTA / JOURNAL:    - Arch Argent Pediatr. 2019 Apr 1;117(2):114-119. doi: 10.5546/aap.2019.eng.114.

Enlace a la Editora de la Revista http://dx.doi.org/10.5546/aap.2019.eng.114

AUTORES / AUTHORS: - Buyukavci MA; et al.

INSTITUCIÓN / INSTITUTION: - Inonu Universitesi, Centro Medico Turgut Ozal, Departamento de Pediatria, Unidad de Pediatria del Desarrollo y el Comportamiento, Malatya, Turkey 

RESUMEN / SUMMARY: - Down’s syndrome (DS) is a common genetic disorder. The families of children with DS generally do not receive sufficient information at the time of the diagnosis. They are dissatisfied with the manner of healthcare professionals. The objective was to evaluate the experiences of mothers of children with DS at the time of the diagnosis and the communicative attitudes of healthcare professionals. POPULATION AND METHODS: Mothers who had children with Down syndrome were included. The experiences of the mothers at the time of diagnosis and the attitudes of the healthcare professionals were evaluated by a semistructured interview. RESULTS: The study sample was 43 mothers. Eight children had been diagnosed with DS prenatally, and 35 had been diagnosed postnatally. Eighteen of the mothers had received the diagnosis in a pediatric clinic, and 16 had been told of the diagnosis in an obstetric clinic. More than half the mothers had received the first information about their child’s diagnosis from a pediatrician. Only five of the 43 mothers had received detailed information. Twenty-three of 32 mothers said that they were met with a negative attitude. Generally, the time put aside to inform the families about the diagnosis was less than 5 min. CONCLUSIONS: Mothers of DS children want more information about DS from healthcare professionals. Furthermore, they want this information to be delivered in a supportive and sensitive manner. Healthcare professionals, especially pediatricians need to allocate sufficient time to discuss DS and its challenges with the family

TÍTULO / TITLE:   - The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis.

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REVISTA / JOURNAL:    - Cost Eff Resour Alloc. 2019 Mar 1;17:6. doi: 10.1186/s12962-019-0173-8. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12962-019-0173-8

AUTORES / AUTHORS: - Bayon JC et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - DNA-based non-invasive prenatal testing (NIPT) using maternal blood constitutes an emerging technology for the detection of Down syndrome (DS). The aim of the study was to conduct a cost-effectiveness analysis to evaluate the economic costs and health implications of the introduction of NIPT based on cell-free foetal DNA analysis through different screening strategies for the detection of DS. Methods: An analytical short-term decision model was developed, from the payer s perspective (Spanish National Health Service). The main outcome measure was the number of DS cases detected. Secondary measures included associated miscarriages, women undergoing current screening, women undergoing NIPT, positive NIPT and invasive procedures performed. The study setting was the Spanish National Health Service. Three strategies were compared: (a) first- and second-trimester screening (current screening); (b) NIPT as contingent testing; and (c) NIPT as first-line testing. Modelling was based on a hypothetical cohort of 100,000 Spanish pregnant women. Population data were obtained from the database of the Basque Antenatal Screening Programme. Deterministic sensitivity analyses were performed to assess variations in the cost of NIPT, screening risk cut-off, screening uptake-rate and rate of failure of NIPT. Results: NIPT as contingent testing (strategy b) led to fewer miscarriages following invasive procedures and a slight reduction in the number of DS cases detected compared to current screening. However, lowering the screening cut-off to >/= 1:500 would improve the overall effectiveness of NIPT as contingent testing, increasing the number of DS cases detected and decreasing foetal losses as compared to the current screening, despite there would be an extra-cost of 3.5%. When NIPT was used as first-line testing (strategy c), the screening would be more effective but also more expensive, with incremental cost-effectiveness ratios (ICERs) per additional case of DS detected of euro1,299,

TÍTULO / TITLE:   - Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.

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REVISTA / JOURNAL:    - Ont Health Technol Assess Ser. 2019 Feb 19;19(4):1-166. eCollection 2019.

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AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Pregnant people have a risk of carrying a fetus affected by a chromosomal anomaly. Prenatal screening is offered to pregnant people to assess their risk. Noninvasive prenatal testing (NIPT) has been introduced clinically, which uses the presence of circulating cell-free fetal DNA in the maternal blood to quantify the risk of a chromosomal anomaly. At the time of writing, NIPT is publicly funded in Ontario for pregnancies at high risk of a chromosomal anomaly. Methods: We completed a health technology assessment, which included an evaluation of clinical benefits and harms, value for money, budget impact, and patient preferences related to NIPT. We performed a systematic literature search for studies on NIPT for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions in the average-risk or general population. We evaluated the cost-effectiveness of traditional prenatal screening, NIPT as a second-tier test (performed after traditional prenatal screening), and NIPT as a first-tier test (performed instead of traditional prenatal screening). We also conducted a budget impact analysis to estimate the additional costs of funding first-tier NIPT. We interviewed people who had lived experience with NIPT and people living with the conditions NIPT screens for, or their families. Results: The pooled clinical sensitivity of NIPT in the average-risk or general population was 99.5% (95% confidence interval [CI] 81.8%-99.9%) for trisomy 21, 93.1% (95% CI 75.9%-98.3%) for trisomy 18, and 92.7% (95% CI 81.6%-99.9%) for trisomy 13. The clinical specificity for any trisomy was 99.9% (95% CI 99.8%-99.9%). Compared with traditional prenatal screening, NIPT was more accurate in detecting trisomies 21, 18, and 13, and decreased the need for diagnostic testing. We found limited evidence on NIPT for sex chromosome aneuploidies or microdeletions in the average-risk or general population. Positive NIPT results should be confirmed by diagnostic testing.Compared with traditional

TÍTULO / TITLE:   - Ultrasensitive Monolayer MoS2 Field-Effect Transistor Based DNA Sensors for Screening of Down Syndrome.

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REVISTA / JOURNAL:    - Nano Lett. 2019 Mar 13;19(3):1437-1444. doi: 10.1021/acs.nanolett.8b03818. Epub 2019 Feb 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1021/acs.nanolett.8b03818

AUTORES / AUTHORS: - Liu J; et al

INSTITUCIÓN / INSTITUTION: - Key Laboratory for the Physics and Chemistry of Nanodevices and Department of Electronics , Peking University , Beijing 100871 , China. 

RESUMEN / SUMMARY: - Field-effect transistor (FET) biosensors based on low-dimensional materials present the advantages of low cost, high speed, small size, and excellent compatibility with integrated circuits (ICs). In this work, we fabricated highly sensitive FET-based DNA biosensors based on chemical vapor deposition (CVD)-grown monolayer MoS2 films in batches and explored their application in noninvasive prenatal testing (NIPT) for trisomy 21 syndrome. Specifically, MoS2 was functionalized with gold nanoparticles (Au NPs) of an optimized size and at an ideal density, and then, probe DNAs for the specific capture of target DNAs were immobilized on the nanoparticles. The fabricated FET biosensors are able to reliably detect target DNA fragments (chromosome 21 or 13) with a detection limit below 100 aM, a high response up to 240%, and a high specificity, which satisfy the requirement for the screening of Down syndrome. In addition, a real-time test was conducted to show that the biosensor clearly responds to the target DNA at concentrations as low as 1 fM. Our approach shows the potential for detecting the over-expression of chromosome 21 in the peripheral blood of pregnant women and achieving Down syndrome screening.

TÍTULO / TITLE:   - Receiving a prenatal diagnosis of Down syndrome by phone: a qualitative study of the experiences of pregnant couples.

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REVISTA / JOURNAL:    - British Medical J (BMJ). Free access to the article (immediately). http://bmj.com/search.dtl

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/bmjopen-2018-026825

AUTORES / AUTHORS: - Lou S et a

INSTITUCIÓN / INSTITUTION: - Central Denmark Region, DEFACTUM - Public Health and Quality Improvement, Aarhus N, Denmark. 

RESUMEN / SUMMARY: - To examine how pregnant couples experience receiving a prenatal diagnosis of Down syndrome (DS) by phone-a practice that has been routine care in the Central Denmark Region for years. DESIGN: Qualitative interview study. SETTING: Participants were recruited from hospitals in Central Denmark Region, Denmark. PARTICIPANTS: Couples who had received a prenatal diagnosis of DS by phone and decided to terminate the pregnancy. They were recruited from the obstetric department where the termination was undertaken. During the study period (February 2016 to July 2017), 21 semistructured, audio-recorded interviews were conducted by an experienced anthropologist. Interviews were conducted 4-22 weeks after the diagnosis and analysed using thematic analysis. RESULTS: A prearranged phone call was considered an acceptable practice. However, the first theme ‘Expected but unexpected’ shows how the call often came earlier than expected. Consequently, most women were not with their partner and were thus initially alone with their grief and furthermore responsible for informing their partner, which some considered difficult. The second theme ‘Now what?’ shows how during the phone calls, physicians were quick to enquire about the couples’ agendas. As the majority had already decided to seek termination of pregnancy, the dialogue focused on related questions and arrangements. Only half of the couples received additional counselling. CONCLUSION: A prearranged phone call was considered an acceptable and appropriate practice. However, some aspects of this practice (particularly related to the context of the call) showed to be less than optimal for the couples. To make sure that a diagnostic result is delivered in accordance with the couples’ needs and requests, the context of the call could be addressed and agreed on in advance by physicians and couples.

TÍTULO / TITLE:   - Employ ductus venous blood flow in the early detection of trisomy 21, trisomy 18, and trisomy 13: A meta-analysis.

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REVISTA / JOURNAL:    - Medicine (Baltimore). 2019 Mar;98(12):e14773. doi: 10.1097/MD.0000000000014773.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MD.0000000000014773

AUTORES / AUTHORS: - Ge Y; et al.

INSTITUCIÓN / INSTITUTION: - Special Inspection Section of Anhui Military Hospital of Armed Police Force, Hefei. 

RESUMEN / SUMMARY: - Ductus venosus (DV) Doppler has been suggested as a biomarker for the early screening of trisomy diseases. However, results from different studies have been largely inconsistent. This study aimed to investigate the relationship between DV and top 3 fetal aneuploidies by a systematical meta-analysis: trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13). METHODS: We performed a literature search covering articles from Medline, PubMed, RePORTER, and Elsevier publications. DV-T21/T18/T13 relation data were extracted from 9, 7, and 6 previous studies, respectively, including 31,053, 28,092 and 26,721 pregnant women worldwide. Both random-effects and fixed-effect model were used to study the log odds ratio (LOR) of T21, T18, and T13 in case of DV. Four potential influential factors were studied using a multiple linear regression (MLR) model, including maternal age, data age, sample size, and population region. RESULTS: DV was significantly related to T21, T18, and T13 (LOR = 3.44, 3.89 and 3.46; P value <2.1E-13). Significant between-study variance was observed for T21 (P value <1.71E-14), but not for T18 (P value >.05) and T13 (P value >.87). MLR results suggested that significant influential factors could include population region (P value <.0021), but not sample size, data age, and maternal age (P value >.078). CONCLUSIONS: Integrating DV could help in the detection of trisomy. However, accuracy and validity may vary depending on the population regions, which need further study.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Social adaptive skills and psychopathology in adults with intellectual disabilities of non-specific origin and those with Down syndrome.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2019 Apr;87:31-42. doi: 10.1016/j.ridd.2019.01.010. Epub 2019 Feb 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2019.01.010

AUTORES / AUTHORS: - Barisnikov K; Straccia C

INSTITUCIÓN / INSTITUTION: - Child Clinical Neuropsychology Unit, Department of Psychology, University of Geneva, Switzerland.  

RESUMEN / SUMMARY: - The present study aimed to assess the psychometric proprieties of a new social adaptive skills questionnaire and examine the impact of maladaptive behaviour on social functioning in adults with ID of non-specific aetiology and those with Down syndrome. The results of an exploratory factor analysis led to the exclusion of 20 items out of 48 and yielded a four-factor structure. The Confirmatory Factor Analysis conducted on 28 remaining items confirmed a four-factor structure explaining 43% of the total variance. The results computed on the global sample (n = 567) showed a “very good” internal consistency for the global score (.89) for all four factors with a very good fit (.97). Thus, this new assessment tool presented a good conceptual validity for assessing social-adaptive skills in adults with ID. The results also showed that participants with DS (no = 92) exhibited a higher global score of social adaptive skills on three subscales (sociability, social relating and respect for social rules) compared to adults with ID of non-specific aetiology (no = 328), and presented a lower level of psychopathology problems. Although aetiology was significantly related to these group differences even after controlling for level of ID and chronological age, the general level of psychopathology fully mediated these relations. In conclusion, the regression coefficient analyses showed that the general level of psychopathology fully mediated the relationship between aetiology and social adaptive skills. A combined assessment of these dimensions should provide information about their predictive value for social functioning in ID adults and target specific remediation goals.

TÍTULO / TITLE:   - Leisure Activity, Brain beta-amyloid, and Episodic Memory in Adults with Down Syndrome.

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REVISTA / JOURNAL:    - Dev Neurobiol. 2019 Mar 26. doi: 10.1002/dneu.22677.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/dneu.22677

AUTORES / AUTHORS: - Mihaila I et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania. Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin. 

RESUMEN / SUMMARY: - The present study provided an investigation of associations between leisure activity and early Alzheimer’s disease neuropathology (i.e., brain beta-amyloid) and episodic memory in a sample of 65 adults with Down syndrome (aged 30-53 years), at baseline and follow-up, approximately three years apart. Findings indicated that leisure activity at baseline was not associated with brain beta-amyloid at baseline or change in brain beta-amyloid from baseline to follow-up. Greater cognitively stimulating leisure activity at baseline was associated with better episodic memory at baseline, and greater social leisure activity at baseline was associated with less decline in episodic memory from baseline to follow-up. High (as opposed to low) levels of social and overall leisure activity at baseline moderated the association between increase in brain beta-amyloid and decline in episodic memory, from baseline to follow-up. Findings suggest that cognitively stimulating and social leisure activity could protect against the effect of Alzheimer’s disease neuropathology on episodic memory in adults with Down syndrome.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Parents’ perspective on having a child with Down Syndrome in France.

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REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Mar 3. doi: 10.1002/ajmg.a.61102.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.61102

AUTORES / AUTHORS: - Bertrand R

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In 2011, Skotko, Levine, and Goldstein asked parents who had children with Down Syndrome (DS) in the United States how they felt about having a child with DS. The purpose of the present study was to ask the same questions to parents living in France so that this information could be shared with new and expectant parents. The results were also compared to the findings of Skotko, Levine, and Goldstein (2011a) to see whether some parental feelings might be universally shared and to discuss the differences observed. This web-based survey was shared with a number of DS organizations and online DS communities. Of the 369 respondents living in France, 99% indicated that they loved their son or daughter with DS; 98% were proud of their child with DS; 78% felt that their outlook on life was more positive because of their son or daughter with DS; 12% felt embarrassed by their child with DS; and 7% expressed regret for having a child with DS. A significant number of respondents admitted that raising a child with DS was not without challenges. Nevertheless, most respondents indicated that their son or daughter with DS had had a positive impact on their life and that of their family and that they were happy to have their child.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Does drug induced sleep endoscopy-directed surgery improve polysomnography measures in children with Down Syndrome and obstructive sleep apnea?

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REVISTA / JOURNAL:    - Acta Otolaryngol. 2018 Nov;138(11):1009-1013. doi: 10.1080/00016489.2018.1504169.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/00016489.2018.1504169

AUTORES / AUTHORS: - Akkina SR et al.

INSTITUCIÓN / INSTITUTION: - School of Medicine , University of Washington , Seattle , WA , USA. 

RESUMEN / SUMMARY: - Children with Down Syndrome (DS) and obstructive sleep apnea (OSA) are difficult to treat, as first line therapies may not lead to significant improvement. Drug-induced sleep endoscopy (DISE) directed surgery may be particularly beneficial for these patients. OBJECTIVE: To assess change in polysomnography (PSG) measures of patients with DS who underwent DISE-directed surgery. METHODS: Retrospective chart review was performed on patients with DS who underwent DISE-directed surgery and had pre- and post-surgery PSG. Patients were analyzed in groups defined by previous adenotonsillectomy. Two-sided t-tests with equal variances were used to assess statistical significance. RESULTS: Of 24 patients reviewed, 14 were surgically naive and 10 had undergone prior adenotonsillectomy. The primary outcome was change in PSG parameters including apnea hypopnea index, obstructive apnea hypopnea index, oxygen nadir, oxygen desaturation index, and mean carbon dioxide level. While improvement was seen in all PSG parameters, only improvement in oxygen nadir in children who had undergone prior adenotonsillectomy was statistically significant (88.5% to 90.9%, p = .04). CONCLUSIONS AND SIGNIFICANCE: DISE-directed surgery may be beneficial for children with DS and OSA, with improvement in the means of main PSG measures observed. A larger, prospective study is warranted to further explore DISE utility.

TÍTULO / TITLE:   - Micro-CT of tracheal stenosis in trisomy 21.

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REVISTA / JOURNAL:    - Thorax. 2019 Apr;74(4):419-420. doi: 10.1136/thoraxjnl-2018-212966. Epub 2019 Feb 2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/thoraxjnl-2018-212966

AUTORES / AUTHORS: - Shelmerdine SC et al

INSTITUCIÓN / INSTITUTION: - Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Quality of Pulmonary Function Tests in Participants with Down Syndrome.

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REVISTA / JOURNAL:    - Arch Bronconeumol. 2019 Mar 16. pii: S0300-2896(19)30093-6. doi: 10.1016/j.arbres.2019.02.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.arbres.2019.02.010

AUTORES / AUTHORS: - Fernandez-Plata R; ... Martinez-Briseno D;

INSTITUCIÓN / INSTITUTION: - Department of Epidemiology and Social Science in Health, National Institute of Respiratory Diseases “Ismael Cosio Villegas”, Mexico City, Mexico. 

RESUMEN / SUMMARY: - People with Down syndrome (DS) have high respiratory morbidity, evaluating their respiratory health with standardized, objective tests is desirable. Thus, the objective of this study was to evaluate the technical quality of Pulmonary Function Tests (PFTs) to determine which ones are most suitable for this population. METHODS: Participants included children, teenagers and adults with DS, 5 years of age or older (n=302). The technical quality of the impulse oscillometry system (IOS), forced spirometry, lung-diffusing capacity for carbon monoxide (DLCO), and 6-min walk test (6MWT) were analyzed by age group. Capnography and pulse oximetry were included in the study. Technical quality was determined on the basis of current international PFTs standards. RESULTS: Fifty-one percent of participants were males. A total of 184 participants (71%) who completed the IOS fulfilled the quality criteria, while 210 (70%) completed the 6MWT. Performance on forced spirometry and DLCO was poor. All pulse oximetries and 96% percent heart rates obtained had good quality, but exhaled carbon dioxide (PetCO2) and respiratory rate (RR) showed deficient repeatability. CONCLUSIONS: IOS appears to be the most reliable instrument for evaluating lung mechanics in individuals with DS.

TÍTULO / TITLE:   - The Prevalence of OSA Among an Adult Population With Down Syndrome Referred to a Medical Clinic.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2019 Jan;124(1):4-10. doi: 10.1352/1944-7558-124.1.4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-124.1.4

AUTORES / AUTHORS: - Cornacchia M; et al.

INSTITUCIÓN / INSTITUTION: - Michelle Cornacchia, Geisinger Health System; Baylor College of Medicine 

RESUMEN / SUMMARY: - Obstructive sleep apnea (OSA) is a common sleep disorder affecting approximately 16% of adults (24% of men and 9% of women), and, if untreated, it can cause significant complications ( Young, 2009 ). This study evaluates 56 adult patients with Down syndrome and analyzed retrospective data to determine the: (1) prevalence of OSA, (2) severity of OSA, and (3) association between body mass index (BMI) and OSA. Of those participants that had polysomnography (PSG) testing available, 82.1% were diagnosed with OSA, divided by severity into mild (45.7%), moderate (15.2%), and severe (39.1%) levels. Because of the high prevalence of OSA among our study population, we recommend that all adults with DS be screened for OSA with PSG.

Surgery - Cirugía

TÍTULO / TITLE:   - Cervical instability in patients with Trisomy 21: the gamble continues.

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REVISTA / JOURNAL:    - Paediatr Anaesth. 2019 Mar 25. doi: 10.1111/pan.13630.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13630

AUTORES / AUTHORS: - Bhalotra AR;

INSTITUCIÓN / INSTITUTION: - Department of Anaesthesiology, Maulana Azad Medical College& associated Lok Nayak Hospital, New Delhi, India. 

RESUMEN / SUMMARY: - Sir - Down syndrome (DS) continues to be the most common chromosomal disorder and it is the rare anesthesiologist who has not encountered these patients. I read with interest the review by Bertolizio et al on cervical instability in patients with Trisomy 21. For children with documented instability, as discussed by Bertolizio, due care can be taken, including limitation of neck movements, use of video laryngoscopy, MILS, a neck collar etc. But perhaps, more importantly, we can obtain informed consent from the parents with documentation of likely complications due to cervical spine instability. It is the child with no neurological symptoms who poses problems.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society.

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REVISTA / JOURNAL:    - Mol Syndromol. 2019 Jan;9(6):279-286. doi: 10.1159/000494231. Epub 2018 Oct 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000494231

AUTORES / AUTHORS: - Reeves RH; et al.

INSTITUCIÓN / INSTITUTION: - Johns Hopkins University School of Medicine, Baltimore, MD. 

RESUMEN / SUMMARY: - In the last decade, a number of important research advances in different fields have allowed Down syndrome (DS) research to flourish, creating a time of both unparalleled opportunity and considerable challenge. Building a scientific framework that distills mechanisms involved in the developmental intellectual disability of DS as well as the early-onset component of Alzheimer disease and the several other comorbidities associated with the condition is a challenge that scientists are now tackling using novel technologies and multidisciplinary approaches. The Trisomy 21 Research Society (T21RS) was founded in 2014 to address these evolving needs and challenges. In June of 2017, the T21RS held its 2nd International Conference in Chicago, USA. With more than 200 scientists, advocates, people with DS, and family members in attendance, the meeting served as a forum for the discussion of the latest research and clinical advances as well as the most compelling needs of people with DS and their families.

TÍTULO / TITLE:   - Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models.

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REVISTA / JOURNAL:    - Sci Rep. 2019 Mar 8;9(1):3914. doi: 10.1038/s41598-019-40328-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-019-40328-9

AUTORES / AUTHORS: - Souchet B; ...Delabar JM;

INSTITUCIÓN / INSTITUTION: - Universite Paris-Diderot, Sorbonne Paris Cite, Adaptive Functional Biology, National Centre for Scientific Research (CNRS), UMR 8251, Paris, France. 

RESUMEN / SUMMARY: - Down syndrome is a common genetic disorder caused by trisomy of chromosome 21. Brain development in affected foetuses might be improved through prenatal treatment. One potential target is DYRK1A, a multifunctional kinase encoded by chromosome 21 that, when overexpressed, alters neuronal excitation-inhibition balance and increases GAD67 interneuron density. We used a green tea extract enriched in EGCG to inhibit DYRK1A function only during gestation of transgenic mice overexpressing Dyrk1a (mBACtgDyrk1a). Adult mice treated prenatally displayed reduced levels of inhibitory markers, restored VGAT1/VGLUT1 balance, and rescued density of GAD67 interneurons. Similar results for gabaergic and glutamatergic markers and interneuron density were obtained in Dp(16)1Yey mice, trisomic for 140 chromosome 21 orthologs; thus, prenatal EGCG exhibits efficacy in a more complex DS model. Finally, cognitive and behaviour testing showed that adult Dp(16)1Yey mice treated prenatally had improved novel object recognition memory but do not show improvement with Y maze paradigm. These findings provide empirical support for a prenatal intervention that targets specific neural circuitries.

Education - Educación

TÍTULO / TITLE:   - Spoken fictional narrative and literacy skills of children with Down syndrome.

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REVISTA / JOURNAL:    - J Commun Disord. 2019 Mar 7;79:76-89. doi: 10.1016/j.jcomdis.2019.03.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jcomdis.2019.03.005

AUTORES / AUTHORS: - Hessling A; Brimo DM

INSTITUCIÓN / INSTITUTION: - Department of Hearing and Speech Sciences, Vanderbilt University, 1215 21st Ave S, 8310 MCE, South Tower, Nashville, TN 37232, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) exhibit below average nonverbal intelligence and impaired language skills; however, their spoken narrative production is a relative strength. AIMS: We examined expressive language skills produced during fictional narrative retells and analyzed the unique contribution of expressive language skills to word-level reading and reading comprehension of children with DS. METHODS AND PROCEDURES: The microstructure and macrostructure of fifteen, 8- to 18-year-old children with DS’s narrative retells were analyzed. Receptive vocabulary, word-level reading, and reading comprehension also were measured. RESULTS: Narrative microstructure analyses revealed restricted syntactic and semantic diversity. Further analyses of sentence complexity revealed that children with DS predominately produced prepositional phrases and produced more verbs than nouns. Narrative macrostructure analysis revealed participants use of episodic components; however, their stories did not include mental state references. Narrative microstructure contributed unique variance to word-level reading, whereas narrative macrostructure contributed unique variance to word-level reading and reading comprehension. Additionally, strong correlations were found between narrative skills and literacy skills. CONCLUSIONS AND IMPLICATIONS: Findings from this study support the use of narrative microstructure and macrostructure analyses as a valuable clinical tool to guide assessment and intervention planning for school-aged children with DS.

TÍTULO / TITLE:   - “We don’t know what we don’t know”: Providing information about communication to families of children with Down syndrome.

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REVISTA / JOURNAL:    - Child Care Health Dev. 2019 Mar 14. doi: 10.1111/cch.12658.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/cch.12658

AUTORES / AUTHORS: - Melvin K; Meyer C; Ryan B

INSTITUCIÓN / INSTITUTION: - School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Australia. 

RESUMEN / SUMMARY: - Children with Down syndrome often present with a communication disability and families require information to support their child’s communication. Effective provision of information by professionals is an important part of family-centred practice. However, we currently do not know the specific communication information needs of families of children with Down syndrome. This study aimed to 1) explore families’ experiences of communication information provision; and 2) identify families’ preferences regarding when, what, and how they would like to receive information about communication. METHOD: A qualitative descriptive approach was used to explore the experiences and information needs of nine family members of children with Down syndrome aged 0-15 years. Data from semi-structured, in-depth interviews was analysed using thematic analysis. RESULTS: Three core themes were identified: 1) We want more information about communication to be provided by professionals now and into the future so we can be ‘self-help people’; 2) We want general information resources that help us support our child’s communication; 3) We want to have a two-way partnership with professionals so we can share and receive specific information about our child’s communication. CONCLUSION: Ineffective information provision restricts families’ capacity to be ‘self-help people’ in supporting communication development. Ongoing provision of both general and specific information about communication is needed in different formats. This study informs the development of resources to better meet families’ information needs.

TÍTULO / TITLE:   - Cognitive Functioning in Children with Down Syndrome: Current Knowledge and Future Directions.

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REVISTA / JOURNAL:    - Adv Child Dev Behav. 2019;56:257-289. doi: 10.1016/bs.acdb.2019.01.002. Epub 2019 Feb 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/bs.acdb.2019.01.002

AUTORES / AUTHORS: - Lukowski AF; et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychological Science, UC Irvine, Irvine, CA, United States. 

RESUMEN / SUMMARY: - Infants and children with Down syndrome (DS) can look forward toward bright futures, as individuals with DS are living healthier, more productive lives than ever due to medical advances, opportunities for early and continued intervention, and inclusive education. Despite these advances, infants and children with DS experience challenges in specific domains of cognitive functioning relative to their typically developing (TD) peers. Over the long term, individuals with DS are also more likely to develop Alzheimer’s disease relative to the general population. Understanding cognitive functioning early in life may be important in charting cognitive decline over time. This chapter synthesizes the literature on cognitive functioning in infants and children with DS specific to general intelligence or IQ, language development, recall memory, and executive functioning, with additional focus on critical issues and future directions. These research findings provide important information for understanding cognitive competencies and intervention opportunities for children with DS and also serves to provide a foundation from which to plan longitudinal studies examining stability and change in cognitive functioning over time.

TÍTULO / TITLE:   - The understanding of complex syntax in children with Down syndrome.

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REVISTA / JOURNAL:    - Wellcome Open Res. 2019 Feb 28;3:140. doi: 10.12688/wellcomeopenres.14861.2. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.12688/wellcomeopenres.14861.2

AUTORES / AUTHORS: - Frizelle P et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is associated with poor language skills that seem disproportionate to general nonverbal ability, but the nature and causes of this deficit are unclear. We assessed how individuals with DS understand complex linguistic constructions, and considered how cognitive ability and memory and impact the ability of those with DS to process these sentence types. Methods: There were three groups participating in the study: children with DS (n = 33) and two control groups composed of children with cognitive impairment of unknown aetiology (CI) (n = 32) and children with typical development (n = 33). The three groups did not differ on raw scores on a test of non-verbal cognitive ability. Using a newly devised animation task, we examined how well individuals with DS (n = 33) could understand relative clauses, complement clauses and adverbial clauses compared to children with CI and typically developing controls. Participants also completed the Test for the Reception of Grammar-2, three measures of memory (forward and backward digit recall, visuo-spatial memory) and a hearing screen. Results: Results indicated that (1) with the exception of intransitive subject relative clauses, children with DS performed at floor on all other complex sentences, (2) they performed at a significantly lower level than both control groups, and (3) DS status accounted for a significant proportion of the variance over and above memory skills. Conclusions: Our findings suggest that children with DS have a disproportionate difficulty understanding complex sentences compared to two control groups matched on mental age. Furthermore, their understanding of syntax is not completely explained by poor cognitive or memory skills, rather it appears to be a specific deficit that may distinguish children with DS from other neurodevelopmental disorders.

TÍTULO / TITLE:   - Understanding the Systems, Contexts, Behaviors, and Strategies of Parents Advocating for Their Children With Down Syndrome.

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REVISTA / JOURNAL:    - Intellect Dev Disabil. 2019 Apr;57(2):146-157. doi: 10.1352/1934-9556-57.2.146.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1934-9556-57.2.146

AUTORES / AUTHORS: - Krueger K; et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In the current qualitative research study, we focused on understanding the ecological systems, contexts, behaviors, and strategies of parents ( N = 435) advocating for their children with an intellectual and developmental disability diagnosis, specifically Down syndrome (DS). Based on the data analysis, parents of children with DS advocate for their children frequently, in a variety of settings, with different actions, attitudes, motivations, and outcomes. The most common settings where advocacy occurred were primarily school and healthcare systems. The goals of parents often included inclusiveness, equality, and acceptance, whereas a few parents reported advocating due to discrimination and judgment. Implications for further research and professional practice also are described.

TÍTULO / TITLE:   - Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome

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REVISTA / JOURNAL:    - Front Psychol. 2019 Jan 17;9:2730. doi: 10.3389/fpsyg.2018.02730. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyg.2018.02730

AUTORES / AUTHORS: - Startin CM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic cause of intellectual disability. There is, however, considerable variation in cognitive abilities between those with DS, with some individuals scoring at floor on some tests, particularly for age-standardised outcomes. This variation and these floor effects can pose a problem for comparing and combining study populations when different standardised measures have been used to assess individuals’ cognitive abilities, for example combining results across studies to investigate genetic or other factors associated with cognitive abilities. To facilitate this comparison and combination of study populations assessed using different tests of verbal abilities, we administered two commonly used standardised tests of receptive language, the Kaufmann Brief Intelligence Test 2 (KBIT-2) verbal scale and the British Picture Vocabulary Scale 3 (BPVS3) to 34 adults with DS (age range 19-59) to investigate relationships between outcomes for these two tests. We found a very strong correlation between raw scores for the KBIT-2 verbal scale and the BPVS3, and determined equations to convert between scores for the two tests. Intraclass correlations between the two scales for age-equivalents and calculated z scores relative to population norms were also strong, though scores for both outcomes were significantly higher for the KBIT-2 verbal scale compared to the BPVS3. This deviation in scores between the two tests was greater as z scores decreased for both tests (i.e., for lower scoring individuals), with no such relationship observed for age-equivalents. These results indicate the conversion of raw scores between the KBIT-2 verbal scale and the BPVS3 may be a more valid method for the comparison or combination of study samples with DS compared to the use of standardised scores. Such comparisons or combinations will aid our understanding of cognitive variations and factors associated with these variations within the population with DS.

TÍTULO / TITLE:   - Exploratory behavior and developmental skill acquisition in infants with Down syndrome.

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REVISTA / JOURNAL:    - Infant Behav Dev. 2019 Feb;54:140-150. doi: 10.1016/j.infbeh.2019.02.002. Epub 2019 Feb 19.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.infbeh.2019.02.002

AUTORES / AUTHORS: - Fidler DJ; et al.

INSTITUCIÓN / INSTITUTION: - Colorado State University, United States. 

RESUMEN / SUMMARY: - Infants learn about objects by exploring them. Typically developing infants actively explore objects through visual, manual, and oral modalities. Attenuated exploratory behavior has been observed in various neurodevelopmental disorders, including Down syndrome (DS), presumably limiting learning options. However, a direct link between exploration and overall developmental functioning has not been characterized. This study used a Latent Profile Analysis framework to examine within-syndrome variability in exploratory behavior in infants with DS and the developmental correlates of different exploratory behavior profiles. Participants were 45 infants with DS (CA = 9.58 months; SD = 3.62) who completed an object exploration activity and the Bayley Scales of Infant Development-III (BSID-III; Bayley, 2006). Exploration behavior was coded for the percentage of time engaged in visual, manual, and oral exploration. Results indicated that a 2-profile solution provided the best model fit for exploratory behavior, yielding profiles that represented either an Active (57.78% of the sample) or a Passive Exploratory (42.22% of the sample) profile. The Active Exploratory profile was associated with significantly higher age equivalent scores on the BSID-III Cognitive, Communication, and Motor domains than the Passive Exploratory profile. Other factors, such as sex and biomedical risk factors, were not associated with exploratory profiles. These findings offer a more nuanced understanding of early within-syndrome heterogeneity in DS, and demonstrate that impoverished early exploratory behavior may serve as an important indicator of increased risk for more pronounced developmental delays in DS.

TÍTULO / TITLE:   - Adaptive Behavior and Intelligence in Adolescents With Down Syndrome: An Exploratory Investigation.

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REVISTA / JOURNAL:    - Intellect Dev Disabil. 2019 Apr;57(2):79-94. doi: 10.1352/1934-9556-57.2.79.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1934-9556-57.2.79

AUTORES / AUTHORS: - Sabat C; et al.

INSTITUCIÓN / INSTITUTION: - School of Psychology, Universidad de los Andes, Santiago, Chile 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by difficulties in both intellectual functioning and adaptive behavior. These sets of abilities are considered as separate but related domains with small to moderate correlations. The main objective of this study was to explore the relationship of intellectual functioning and adaptive behavior in adolescents with DS because previous studies have shown different relationship patterns between these constructs across other syndromes. Fifty-three adolescents with DS were assessed regarding their intellectual functioning whereas adaptive behavior was reported by parents and teachers. Participants showed a better performance on verbal than nonverbal tasks when assessing intellectual functioning, contrary to previous findings. Regarding adaptive behavior, higher social skills were reported than conceptual and practical skills. Intellectual functioning and adaptive behavior showed a medium correlation, consistent with observations in typical population. These results support the exploration of the variability across the DS phenotype.

TÍTULO / TITLE:   - Does the Development of Syntax Comprehension Show a Premature Asymptote Among Persons With Down Syndrome? A Cross-Sectional Analysis.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2019 Mar;124(2):131-144. doi: 10.1352/1944-7558-124.2.131.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-124.2.131

AUTORES / AUTHORS: - Facon B; Magis D

INSTITUCIÓN / INSTITUTION: - Univ. de Lille, CNRS, CHU Lille, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000 Lille, France 

RESUMEN / SUMMARY: - Uncertainty persists regarding the post-childhood trajectory of syntactic acquisition of persons with Down syndrome (DS). In some studies, asymptote is reached in the early teens, whereas others find syntax continuing to develop at least into early adulthood. This study addressed the issue using a cross-sectional approach. Receptive syntax and vocabulary were tested in 62 children, adolescents and young adults with DS matched on chronological age and cognitive level with 62 participants with intellectual disability (ID) of undifferentiated etiology. On both tests there were significant effects of chronological age and diagnosis, but the chronological age x diagnosis interactions were nonsignificant. We concluded that comprehension of vocabulary and syntax does not asymptote prematurely in individuals with DS relative to those with other forms of ID.

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