Search results for "Intellect"

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.

In light of the ends. Copyright hysteresis and private copy exception after the British Academy of Songwriters, Composers and Authors (BASCA) and oth…

2015

In British Academy of Songwriters, Composers and Authors (BASCA) and others v Secretary of State for Business, Innovation and Skills, the High Court of Justice in matter of private copy exception provides the twofold prime opportunity to shed light on the state of the art of copyright in the UK and to flesh out the idea of 'legal hysteresis’. I support the reintroduction of the private copy exception, possibly in a less narrow fashion, and I explain the reasons why I am confident that my expectations will be fulfilled.

Territorialisation : contenu et établissement des programmes locaux de l'habitat. Décret n° 2005-317 du 4 avril 2005 relatif aux programmes locaux de…

2005

International audience

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

2010

Intellectual property rights and economic growth

2015

Striving for greater economic growth, requires a great understanding of the underlying factors. One of the factors may be the intellectual property rights and the level of its protection. Whether it is and how does it behave are the questions answered by this thesis. The theoretical framework comes mainly from the Schumpeterian growth model. The empirical methodology uses GMM in order to obtain reliable results. The level of intellectual property rights protection in the country does seem to have a positive effect on the country’s growth rate. Furthermore it seems that the relation is non-linear: The incremental changes are different between low and high starting levels of the IPR protectio…

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…