Search results for " 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…

MEMORIA DE TRABAJO EN NIÑOS DE EDUCACIÓN INFANTIL CON Y SIN BAJO RENDIMIENTO MATEMÁTICO

2014

Abstract:This study aims to explore working memory in preschool children with and without low mathematical performance. The sample consisted of 255 children aged 5-6 years, to whom were administered neuropsychological tests of working memory and TEDI-MATH to estimate the mathematical performance. The results highlight the capacity of verbal working memory to significantly differentiate groups of children with and without problems in 8 of the 9 analyzed mathematical domains. This factor together with visuospatial working memory differentiate the group of children at risk for mathematical learning disabilities.Keywords: working memory, preschool, math performance, mathematics learning disabil…

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…

Therapeutic aquatic exercise in the treatment of low back pain: a systematic review.

2008

Objective: To examine the effectiveness of therapeutic aquatic exercise in the treatment of low back pain. Design: A systematic review. Methods: A search was performed of PEDro, CINAHL (ovid), PUBMED, Cochrane Controlled Trials Register and SPORTDiscus databases to identify relevant studies published between 1990 and 2007. Population: Adults suffering from low back pain. Intervention: All types of therapeutic aquatic exercise. Comparison: All clinical trials using a control group. Outcomes: Oswestry Disability Index, McGill Pain Questionnaire, subjective assessment scale for pain (e.g. visual analogue scale) and number of work days lost as a direct result of low back pain. Methodological q…

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

Lukivaikeuksien tunnistaminen ja kuntouttaminen alkuopetusvaiheessa

2014

L’UTILIZZO IN MEDICINA LEGALE DELLA MISURAZIONEDELLA SALUTE DEL MINORE SECONDO ICF-CY: ESEMPLIFICA-ZIONE CASISTICA

2015

The evaluation of minors within welfare contest requires an adequate multidisciplinary and interdisciplinary approach to clinical and psycho-social order. There are many evaluation’s instruments, but in the medico legal context particularly useful is the evaluation according to the guidelines of the World Health Organization, in the recent codification ICF, International Classification of Functioning, Disability and Health [1] version YC (Children and Youth) [2]. The use of minor measurement according to ICF-CY is here reported in a child’s health experience with neuropsychiatric disorders. The system ICF-CY offers a revolutionary new model that relates biological, psychological and social …