Finding drugs for fragile X syndrome

Source: ScienceNOW - Category: Science Authors: Tags: twis Source Type: news

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This study directly compares rates, predictors, and medication of anxiety disorders between age-matched, male adolescents with FXS (n = 31) or ASD (n = 20). Results indicate that 51.6% of FXS and 50.0% of ASD adolescents met criteria for an anxiety disorder. Cognitive scores and ASD severity did not predict anxiety. Of those with anxiety, ~ 40% of the FXS and 20% of the ASD participants were prescribed medications for anxiety. PMID: 30430320 [PubMed - as supplied by publisher]
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndrome and those with autism spectrum disorder. Measuring social anxiety in these clinical subgroups is fraught with challenge, however, given the complexity of social anxiety and measurement limitations that are particularly acute in persons with neurodevelopmental disorders. The over ‐arching aim of this study was to contribute to our understanding of the nature of social anxiety in fragile X syndrome and its association with...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research
This article is protected by copyright. All rights reserved. PMID: 30414172 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Conclusion: Results suggest both similarities and differences in the pragmatic profiles observed across different neurodevelopmental disabilities, including idiopathic and FXS-associated cases of ASD, as well as an important sex difference in FXS-ASD. These findings and congruency between the 2 language sample analysis techniques together have important implications for assessment and intervention efforts. PMID: 30418476 [PubMed - as supplied by publisher]
Source: Journal of speech, language, and hearing research : JSLHR - Category: Speech-Language Pathology Authors: Tags: J Speech Lang Hear Res Source Type: research
Abstract Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP). Patients present neuronal alterations that lead to severe intellectual disability and altered sleep rhythms. However, the neural circuit mechanisms underlying FXS remain unclear. Previous studies have suggested that metabolic glutamate and gamma-aminobutyric acid (GABA) receptors/circuits are two counter-balanced factors involved in FXS pathophysiology. More and more studies demonstrated that attenuated GABAergic circuits in the absence...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
AbstractThe child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving the health and well ‐being of patients and their families. To better elucidate the diagnostic approach of genetic tests for patients with GDD and/or ID, we evaluated the results in a cohort of 75 patients with clinical features of GDD and/or ID who were referred for diagnostic workup. A total of 75 children were inve stigated for GDD or ID in the pediatric neurology department. Ten patients (13%, 10/75) with a clinically recognizable syndrome were diagnosed by single‐ge...
Source: Annals of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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Source: Journal of Clinical Child and Adolescent Psychology - Category: Psychiatry & Psychology Authors: Source Type: research
This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practi...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
In conclusion, adolescents and young adults with FXS demonstrate neuroanatomical abnormalities consistent with those previously reported in children and adults with FXS. These brain variations likely result from reduced FMRP during early neurodevelopment and mediate downstream deleterious effects on cognitive function.
Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
Condition:   Fragile X Syndrome Intervention:   Drug: Metformin Sponsors:   Université de Sherbrooke;   FRAXA Research Foundation Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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