Search results for "Disability"

Food of the Gods for the Treatment of Multiple Sclerosis Related Fatigue?

2019

In their JNNP paper, Coe et al report the preliminary results of a feasibility trial on flavonoid enriched cocoa for the treatment of multiple sclerosis (MS) related fatigue, showing promising results that encourage the conduction of a phase III clinical trial to confirm the results of possible clinical effects on MS related fatigue.1 As described in the paper,1 fatigue is the most common symptom reported by individuals affected by MS, affecting the majority of patients. It is often present even when neurological disability is low and in the early stages of the disease, but impacts significantly the quality of life in MS patients, diminishing independence in everyday activities. Fatigue sym…

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis di…

2020

International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown.Methods: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes.Results: Of 20 individuals, 14 showed…

Depression, Anxiety at School and Self-Esteem in Children with Learning Disabilities

2014

Educational research places emphasis on the fact that pupils with Learning Disabilities may develop depressive and anxiety symptoms characterized by lower levels of self-esteem. The aim of this research is to compare the levels of depression, anxiety at school and self-esteem in children with learning disabilities, mathematical disabilities and a control group who showed typical learning. The participants were 132 children (52 girls and 80 boys), with an average age of 9 years, attending the fourth grade of primary school. These pupils were selected by scores on a battery of tests commonly used in Italy for the assessment of learning disabilities. On the whole, analyses revealed that childr…

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

2019

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…

Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic v…

2021

The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterization of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution …

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

2021

AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…

Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

2004

Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males. A total of 38 microsatellite markers were typed. The XLMR locus has been linked to DXS8067, DXS1001, DXS425, DXS7877, and DXS1183 with a maximum LOD score of 2.4. The haplotype studies and multipoint linkage analysis suggest a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. No gene contained in this interval has been so far associated with nonsyndromic mental retardation, except for GRIA3, disrupted by a balanced translocation in a female patient with bipolar affect…

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical …

2014

Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Micr…

Screening for microdeletions of the X-chromosome in non-specific mental retardation

2003

Definitions, measurement and prevalence of sedentary behaviour in adults with intellectual disabilities – a systematic review

2017

Supporting positive change in lifestyle behaviours is a priority in tackling the health inequalities experienced by adults with intellectual disabilities. In this systematic review, we examine the evidence on the definition, measurement and epidemiology of sedentary behaviour of adults with intellectual disabilities. A systematic literature search of PUBMED, EMBASE, MEDLINE and Google Scholar was performed to identify studies published from 1990 up to October 2015. Nineteen papers met the criteria for inclusion in the systematic review. Many researchers do not distinguish between insufficient physical activity and sedentary behaviour. None of the studies reported the reliability and validit…