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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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We report two additional families possessing the K/L‐mediated Xq28 duplication with affected males having intellectual disability and epilepsy similar to the previously reported phenotype. To our knowledge, this is the second cohort of individuals to be reported with this duplication and therefore supports K/L‐mediated Xq28 duplications as a distinct syndrome.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: NEW SYNDROME Source Type: research
Conclusion: Patients had acceptable oral hygiene within their limitations, suggesting that prevention and dental care program developed in APAE-PF/RS could be used as a model for health care for patients with intellectual disabilities in other institutions and other cities.RESUMO Objetivo: Determinar a preval ência e a severidade da cárie dentária, ausências dentárias e restaurações pelo índice CPOD, tão bem como a eficiência dos programas de saúde bucal de pacientes com deficiência intelectual, com idades de 11 a 38 anos, que frequentavam a As...
Source: RGO - Revista Gaucha de Odontologia - Category: Dentistry Source Type: research
This article is protected by copyright. All rights reserved.
Source: Annals of Neurology - Category: Neurology Authors: Tags: Research Article Source Type: research
Conclusions: The present study results suggest that the addition of newer AEDs reduces the oxidative stress load and improves the antioxidant potential of the body. Furthermore, the present data also demonstrate that the newer AEDs have indirect impact on biological parameters. PMID: 29317959 [PubMed]
Source: Clin Med Res - Category: Research Authors: Tags: J Clin Med Res Source Type: research
AbstractSETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants inSETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation. Previous studies have suggested that de novo microdeletions in the 12q24.3 region encompassingSETD1B we...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsPrevalence of epilepsy was high among older people with ID, and half were exposed to two or more AEDs. Despite the use of AED therapy, over half had seizures in the previous 2 years. As the primary goals of optimal AED treatment are to achieve seizure freedom without unacceptable adverse effects, this was not achievable for many older patients with ID and epilepsy. Our findings indicated that people with ID and epilepsy were often exposed to psychotropic medications that may lower the seizure threshold. Regular review of epilepsy and medicines (including medicines that may interact with AEDs or lower the se...
Source: Journal of Intellectual Disability Research - Category: Disability Authors: Tags: Original Manuscript Source Type: research
No abstract available
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Abstract A high prevalence of epilepsy has been observed in onchocerciasis-endemic regions with high onchocerciasis transmission. Recent epidemiological studies suggest that Onchocerca volvulus infection is the trigger causing the seizures, which appear in previously healthy children between the ages of 3 and 18 years. Persons with onchocerciasis-associated epilepsy present with a wide spectrum of seizures, including atonic and myoclonic neck seizures; but also absences and most frequently generalized tonic-clonic seizures. Often individuals present with intellectual disabilities and psychiatric disorders and occa...
Source: Trends in Parasitology - Category: Parasitology Authors: Tags: Trends Parasitol Source Type: research
Abstract PURPOSE OF REVIEW: Three randomized controlled trials demonstrate that surgical treatment is safe and effective for drug-resistant epilepsy (DRE), yet fewer than 1% of patients are referred for surgery. This is a review of recent trends in surgical referral for DRE, and advances in the field. Reasons for continued underutilization are discussed. RECENT FINDINGS: Recent series indicate no increase in surgical referral for DRE over the past two decades. One study suggests that decreased referrals to major epilepsy centers can be accounted for by increased referrals to low-volume nonacademic hospitals w...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Opin Neurol Source Type: research
ConclusionsIn conclusion, we show that mutations inB3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly,B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
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