Search results for "INTELLECTUAL DISABILITY"

Autosomal recessive mutations inTHOC6cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

2016

THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. Two of the patients were compound heterozygous for a stop and a missense mutation, and the third was homozygous for a missense mutation; the missense mutations wer…

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…

Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

2019

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. Th…

Motivating Physical Activity for Individuals with Intellectual Disability through Indoor Bike Cycling and Exergaming.

2022

People with intellectual disabilities have more sedentary lifestyles than the general population. Regular physical activity is of both medical and social importance, reducing the risk of cardiovascular disease and promoting functioning in everyday life. Exergames have been envisioned for promoting physical activity; however, most of them are not user-friendly for individuals with intellectual disabilities. In this paper, we report the design, development, and user acceptance of a mobile health solution connected to sensors to motivate physical activity. The system is mounted on an indoor stationary bicycle and an ergometer bike tailored for people with intellectual disabilities. The develop…

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

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…

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

1996

The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…

The structure and correlates of self-injurious behavior in an institutional setting

2001

The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.

Intellectual ability in young adulthood as an antecedent of physical functioning in older age.

2016

Objectives: low cognitive ability is associated with subsequent functional disability. Whether this association extends across adult life has been little studied. The aim of this study was to examine the association between intellectual ability in young adulthood and physical functioning during a 10-year follow-up in older age.Methods: three hundred and sixty persons of the Helsinki Birth Cohort Study (HBCS) male members, born between 1934 and 1944 and residing in Finland in 1971, took part in The Finnish Defence Forces Basic Intellectual Ability Test during the first 2 weeks of their military service training between 1952 and 1972. Their physical functioning was assessed twice using the Sh…