Autism, Epilepsy and Intellectual Disability: A Clinical Conundrum

Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research

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Contributor : Lisa StubbsSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder (ASD), intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, suggesting that AUTS2 is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes. Of ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
CONCLUSIONS: The results of our study provide empirical insight into the first-time prevalence of victimization among children with disability, and into the predicative association between family disadvantages and victimization. PMID: 31561190 [PubMed - as supplied by publisher]
Source: Child Abuse and Neglect - Category: Child Development Authors: Tags: Child Abuse Negl Source Type: research
Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. EEF1A2 protein is involved in protein synthesis, suppression of apoptosis, regulation of actin function and cytoskeletal structure. To date, only sixteen patients with EEF1A2 mutations have been reported.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
Authors: Forcelli PA Abstract AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder Yennawar M, White RS, Jensen FE. J Neurosci. 2019;39(24):4814-4828. Pathogenic mutations in cyclin-dependent kinase-like 5 (CDKL5) result in CDKL5 deficiency disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and intellectual disability. Although mouse models of CDD exhibit dendritic instability and alterations in synaptic scaffolding proteins, studies of glutamate receptor levels and function are limited. Here, we used a novel mouse model of CDD, the C...
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Conclusions: Up to now no survey has been carried out in Hungary with the aim of objectively revealing the dental care needs of these patients. Internationally, however, several surveys have been published. It can be stated on the basis of these that both caries frequency and the presence of parodontal diseases increase in correlation with age and the level of disability. Oral hygiene is insufficient, patients or their caretakers do not get proper information, only a few of them receive adequate training and they are not motivated to keep up oral health. Dental care, except for tending acute cases, is not satisfactory. For...
Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research
Contributors : Tomassoni-Ardori Francesco ; Skyler Kuhn ; Vishal Koparde ; Lino TessarolloSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusBrain Derived Neurotrophic Factor (BDNF) is a potent modulator of brain synaptic plasticity. Signaling defects caused by dysregulation of its NTrk2 (TrkB) kinase (TrkB.FL) and truncated receptors (TrkB.T1) have been linked to the pathophysiology of several neurological and neurodegenerative disorders. We found that upregulation of Rbfox1, an RNA binding protein associated with intellectual disability, epilepsy and autism,  increases selectively...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
This study will evaluate the health care costs and utilization of individuals during their first year of enrollment in HOME and identify factors associated with higher cost and utilization. Secondary analysis of claims data were used to identify cost and utilization. Generalized linear regression and negative binomial regression were used to calculate utilization and cost. The mean total cost of care during the initial year of enrollment (n=239) per individual was $11,095.87, with $4,640.83 attributed to inpatient care. Those with diabetes (p=0.01), epilepsy (p=0.02), or mood disorders (p=0.03) were more likely to be admit...
Source: Journal of Health Care for the Poor and Underserved - Category: International Medicine & Public Health Authors: Tags: J Health Care Poor Underserved Source Type: research
We present male (N = 2) and female (N = 3) probands ascertained via diagnostic exome sequencing with distinct variant types in the IQSEC2 gene encompassing a spectrum of phenotypic severity with patient sex, variant type and inheritance hypothesized to drive disease penetrance and expressivity. All of these patients demonstrated epilepsy, global developmental delays, intellectual disability, and constipation. Our data support that de novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients may account for a...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionsA broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants ofSYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31392718 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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