Search results for "Disabilities"
showing 10 items of 230 documents
Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype
2021
International audience; Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients’ phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any muscul…
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
2018
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
2016
International audience; Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al., Dinwiddie et al, Srivastava et al. and Hori et al.). In this re…
Participation in collaborative projects as a precursor of trust in organizations for individuals with intellectual disability
2020
The present study focuses on organizations delivering services to individuals with intellectual disability, where trust relations between professionals and family members are required. More specifically, we examine the existence of significant differences in the degree to which family members and professionals trust each other. We also propose that their joint participation in collaborative teams (VI) will improve trust (VD). Specifically, our teams (experimental condition) designed and implemented collaborative projects with the participation of professionals and family members. Participants in the control condition did not participate in the collaborative projects. Our results confirmed t…
The Impact of Abuse and Learning Difficulties on Emotion Understanding in Late Childhood and Early Adolescence
2014
Children's affective experiences and cognitive abilities have an impact on emotion understanding. However, their relative contribution, as well as the possibility of an interaction between them, has rarely been examined. The aim of the present study was to evaluate the influence of severe abuse and learning difficulties on simple and complex components of emotion understanding in late childhood and early adolescence. A total of 28 older children and young adolescents were selected for the study. Half of the participants had suffered from severe abuse, and half of these abused children additionally had learning disabilities. The remaining half of the sample had no history of abuse but were m…
Age differences in the role of the cannabinoid type 1 receptor on glutamatergic neurons in habituation and spatial memory acquisition
2015
Abstract Aims Aging is typically linked with a decline in memory performance and alterations in neural integrity. In pathological aging such as Alzheimer's disease, these effects are aggravated. Studies using cannabinoid CB1 receptor-deficient mice have shown a role of the endocannabinoid system in memory processing and neuroprotection. As the CB1 receptor is expressed in various neuronal populations, in this study, we aimed at investigating the consequences of CB1 receptor gene inactivation in cortical glutamatergic neurons in mice (Glu-CB1-KO) in regard to age-related alterations in spatial memory performance. Main methods Juvenile (5.5–7.5 weeks), adult (5.5–7 months), and old (11.5–14 m…
Task Modifications in Walking Postpone Decline in Life-Space Mobility Among Community-Dwelling Older People: A 2-year Follow-up Study
2017
Background Task modification refers to performing a task differently than before. While task modification in walking may be a sign of looming walking difficulty, it may also be adaptive in and postpone the decline in life-space mobility. However, this has not been studied. This study examined whether changes in life-space mobility over a 2-year period differ between people who at baseline report no walking difficulty and no task modification, those who report no walking difficulty but task modification, and those who report walking difficulty. Methods Community-dwelling people aged 75–90 years were interviewed face-to-face at baseline (N = 848), and over phone one (n = 816) and two (n = 761…
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurologi…
2019
Abstract KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia. Here, we genetically and functionally characterize eight novel loss-of-function (LoF) variants of KCNMA1. Genome or exome sequencing and the participation in the international Matchmaker Exchange effort allowed for the identification of novel KCNMA1 variants. Patch clamping was used to assess functionality of mutant BK channels. The KCNMA1 variants p.(Ser351Tyr), p.(Gly356Arg), p.(Gly375Arg), p.(Asn449fs) and p.(Ile663Val) abolished the …
Error Detection and Response Adjustment in Youth With Mild Spastic Cerebral Palsy
2013
This study evaluated the brain activation state during error making in youth with mild spastic cerebral palsy and a peer control group while carrying out a stimulus recognition task. The key question was whether patients were detecting their own errors and subsequently improving their performance in a future trial. Findings indicated that error responses of the group with cerebral palsy were associated with weak motor preparation, as indexed by the amplitude of the late contingent negative variation. However, patients were detecting their errors as indexed by the amplitude of the response-locked negativity and thus improved their performance in a future trial. Findings suggest that the con…
10qter deletion: A new case
2008
Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes. So far, over 19,000 patients with mental retardation have been tested and reported of whom -2.5% appeared to have a subtelomeric rearrange¬ment [Ravnan et al., 2006; Ballif et al., 2007; Ledbetter and Martin, 2007]. Since the identification of sub¬microscopic subtelomeric rearrangements as a major cause of mental retardation [Flint et al., 1995], testing for s…