Search results for "Intellectual disability"
showing 10 items of 303 documents
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
2019
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
2010
IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) located at Xp21.3-22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX-1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). In contrast, intragenic deletions of IL1RAPL1 or other mutations or cytogenetic aberrations affecting IL1RAPL1 have only rarely been identified. Up to date, they have mostly been associated with nonspecific mental retardation (MRX). We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them bein…
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
2022
The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, paediatric epilepsy, intellectual disability (ID) and autism. In addition to point mutations, duplications of the ARX locus have been detected in male patients with ID. These rearrangements include telencephalon ultraconserved enhancers, whose structural alterations can interfere with the control of ARX expression in the developing brain. Here, we review the structural features of 15 gain copy-number variants …
Working memory, intelligence and knowledge base in adult persons with intellectual disability
2002
Abstract Previous studies have suggested that performance in working memory (WM) tasks is deficient in all etiologies and at all levels of intellectual disability (ID). Knowledge about WM structure, cognitive processes reflected in WM tasks, or the long-term memory contribution to WM capacity in ID is, however, not satisfactory. In the present study, WM capacity, WM task requirements, as well as effects between WM, skills, knowledge base, and intelligence were explored in two groups with matched fluid intelligence: adult persons with ID and normally developing children aged 3–6 years. The ID Group performed equally well as the children in WM tasks based on familiar semantic information and …
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
2021
ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have been identified in males, while only chromosomal aberrations have been reported in affected females who showed a skewed pattern of X-chromosome inactivation (XCI), suggesting an X-linked recessive (XLR) disorder. We report three novel loss-of-function (LoF) variants in ARHGEF9: A de novo synonymous variant affecting splicing (NM_015185.2: c.1056G>A, p.(Lys352=)) in one female; a nonsense variant in another female (c.865C>T, p.(Arg289*)), that is, a…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Authorship in Facilitated Communication: An Analysis of 11 Cases
2014
Abstract. We studied the authorship of messages produced through facilitated communication (FC) for all users of FC in two comprehensive schools in a small city in Finland. The participants were 11 children with intellectual disabilities, including autism, all having used FC from 1 to 3 years. The test conditions involved open and blind information-passing tasks in which the participants were directed to write down the contents of written or pictorial stimuli. The results failed to validate FC as a method of communication for any participant or facilitator. An analysis of the messages produced under the FC condition revealed a large degree of facilitator influence on the content of the mess…
The physical activity patterns of adolescents with intellectual disabilities: A descriptive study
2014
Abstract Background Emerging data suggest that adolescents with intellectual disabilities (IDs) have lower physical activity (PA) levels and have a higher incidence of obesity than their peers without IDs. Objective To examine daily PA patterns (weekdays vs. weekend days) of adolescents with IDs among boys and girls. The contributions of PA at school, including school recesses and physical education time, and PA outside of school were also analyzed. Methods Participants included forty-nine adolescents with mild to moderate IDs (mean 15.3 years) from the Valencia region (Spain). Adolescents wore a pedometer for seven consecutive days to measure PA objectively and filled in a daily activity l…
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deaf…
1993
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstrom syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin rec…
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
2015
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…