4.68 asd in fragile x syndrome: a fmr1-fmrp molecular-behavioral study

The objective of this poster is to characterize fragile X mental retardation 1 protein (FMRP) levels in fragile X syndrome (FXS) in individuals with or without ASD.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research

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ABSTRACT: Objective: To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors. Methods: Using baseline data from the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disord...
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: ORIGINAL ARTICLE Source Type: research
Translational Psychiatry, Published online: 20 November 2019; doi:10.1038/s41398-019-0650-zHyperexcitability and impaired intracortical inhibition in patients with fragile-X syndrome
Source: Translational Psychiatry - Category: Psychiatry Authors: Source Type: research
In this study, we have used a novel DNAzyme based approach to create a larval model of FXS in zebrafish with specific focus on the early developmental window.MethodsFmr1specific DNAzymes were electroporated into embryos to create theknockdown. Changes in RNA and protein levels of FMRP and relevant biomarkers were measured in the 0-7dpf window. Behavioral tests to measure anxiety, cognitive impairments and irritability in the larvae were conducted at the 7dpf stage. Drug treatment was carried out at various time points in the 0-7dpf window to identify the critical window for pharmacological intervention.ResultsThe DNAzyme b...
Source: Journal of Pharmacological and Toxicological Methods - Category: Drugs & Pharmacology Source Type: research
We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents of youth with FXS. Parents consistently reported across all gender and age groups that their children experienced the highest QoL in Physical functioning and the lowest QoL in Cognitive functioning. Overall, older children with FXS had increase QoL ratings in the domains of School and Cognitive function. PMID: 31728808 [PubMed - as supplied by publisher]
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
The U.S. Patent and Trademark Office has issued a patent to Zynerba Pharmaceuticals for the company ’s lead new drug candidate, a synthetic cannabidiol medicine. The patent, which expires in 2038, expands the Devon company’s intellectual property portfolio covering the experimental therapy called Zygel, which is formulated as a gel that is applied to the skin. Cannabidiol is a compound found in cannabis plants. Zygel is in late-stage clinical testing as potential treatment for fragile X syndrome.…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
Authors: D'Antoni S, de Bari L, Valenti D, Borro M, Bonaccorso CM, Simmaco M, Vacca RA, Catania MV Abstract Impaired energy metabolism may play a role in the pathogenesis of neurodevelopmental disorders including fragile X syndrome (FXS). We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes, glycerol-3-phosphate shuttle and mitochondrial respiratory chain (MRC) complexes, in the cerebral cortex of the Fmr1 knockout (KO) mouse model of FXS. We found that, despite a hyperactivation of MRC complexes, adenosine triphosphate (ATP) production via mitochondri...
Source: Biological Chemistry - Category: Chemistry Tags: Biol Chem Source Type: research
ConclusionThese results support the expansion of FXS screening criteria in guidelines.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Conclusion: This randomized controlled trial of sertraline treatment showed no benefit with respect to primary or secondary outcome measures. For the 6-month period, treatment in young children with ASD appears safe, although the long-term side effects of low-dose sertraline in early childhood are unknown.Clinical Trial Registration:www.ClinicalTrials.gov, identifier NCT02385799.
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
CONCLUSIONS: Our results demonstrate that sound exposure, but not attenuation, during early developmental window restores molecular, cellular and functional properties in the auditory cortex of Fmr1 KO mice, and suggest this approach as a potential treatment for sensory phenotypes in FXS. PMID: 31698054 [PubMed - as supplied by publisher]
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
CONCLUSION: In this concise review, we summarize and analyze the main hypotheses proposed to explain synaptic dysregulation in FXS, by reviewing the scientific evidence that led to pharmaceutical clinical trials and their outcome. PMID: 31682210 [PubMed - as supplied by publisher]
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Pharm Des Source Type: research
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