Non-pharmacological interventions for people with epilepsy and intellectual disabilities.

CONCLUSIONS: This review highlights the need for well-designed randomised controlled trials conducted to assess the effects of non-pharmacological interventions on seizure and behavioural outcomes in people with intellectual disabilities and epilepsy. PMID: 26355236 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: Journals (General) Authors: Tags: Cochrane Database Syst Rev Source Type: research

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ConclusionOur results demonstrate the dynamic roles ofmiR-146a in early neuronal development and provide new insight into the molecular events that linkmiR-146a overexpression to impaired neurodevelopment. This, in turn, may yield new therapeutic targets and strategies.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
We report an unusual seizure phenotype in a girl with a de novo NAA10 pathogenic variant. X-linked NAA10 variants have been previously reported with syndromic, as well as non-syndromic intellectual disability, microcephaly, cardiac abnormalities and dysmorphisms. Defects in NAA10 have been delineated to cause Ogden syndrome, also known as n-terminal acetyl transferase deficiency (NATD). Ogden syndrome is an extremely rare X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, neonatal hypotonia progressing to hypertonia and dif...
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
Conditions:   Epilepsy; Seizure;   Neuromuscular Diseases;   Brain Malformation;   Intellectual Disability;   Autism Spectrum Disorder;   Hypotonia;   Inborn Errors of Metabolism;   Movement Disorders;   Genetic Disease;   Development Delay;   Chromosome Abnormality;   Hearing Loss;   Dysmorphic Features;   Skeletal Dysplasia;   Congenital Abnormality;   Microcephaly;   Macrocephaly Interventions:   Behavioral: Pre-visit prep;   Diagnos...
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
This study examined the relationship between affiliate stigma and the levels of burden experienced by caregivers, as well as how these levels may vary between those caring for children and adults. This cross-sectional approach used a self-administered survey offered to caregivers of family members with confirmed diagnoses of intractable epilepsy. We measured burden with the 30-item Carer's Assessment of Difficulties Index (CADI) and affiliate stigma with a six-item scale examining caregivers' perceptions of stigma directed toward themselves and their family members with epilepsy. Four nested ordinary-least-squares regressi...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Publication date: Available online 7 June 2018 Source:The Lancet Psychiatry Author(s): Line Olsen, Thomas Sparsø, Shantel M Weinsheimer, Marcelo Bertalan Quintanilha Dos Santos, Wiktor Mazin, Anders Rosengren, Xabier Calle Sanchez, Louise K Hoeffding, Henriette Schmock, Marie Baekvad-Hansen, Jonas Bybjerg-Grauholm, Mark J Daly, Benjamin M Neale, Marianne G Pedersen, Esben Agerbo, Ole Mors, Anders Børglum, Merete Nordentoft, David M Hougaard, Preben Bo Mortensen, Daniel H Geschwind, Carsten Pedersen, Wesley K Thompson, Thomas Werge Background Although the pathogenic nature of copy number variants (CNVs) on ch...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
This article is protected by copyright. All rights reserved. PMID: 29882329 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
This article is protected by copyright. All rights reserved. PMID: 29873394 [PubMed - as supplied by publisher]
Source: The Journal of Physiology - Category: Physiology Authors: Tags: J Physiol Source Type: research
Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
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