Computer-Based Training Studied in Children With Fragile X Syndrome

WEDNESDAY, May 15, 2019 -- No significant difference in outcomes was observed in children and adolescents with fragile X syndrome (FXS) receiving adaptive versus nonadaptive in-home cognitive training, according to a study published online April 15...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news

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This article suggests that systems biology, emphasizing the epigenetic component of systems biology, could help identify clinically useful biomarkers in neuropsychiatric disorders like SZ, BD, and MDD.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Expansions of simple trinucleotide repeats, such as (CGG)n, (CAG)n or (GAA)n, are responsible for more than 40 hereditary disorders in humans including fragile X syndrome, Huntington's disease, myotonic dystrophy, and Friedreich's ataxia. While the mechanisms of repeat expansions were intensively studied for over two decades, the final picture has yet to emerge. It was important, therefore, to develop a mammalian experimental system for studying repeat instability, which would recapitulate repeat instability observed in human pedigrees. Here, we describe a genetically tractable experimental system to stud...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
ConclusionsThis study is the first to examine longitudinal trends in motor development in children with FXS with and without comorbid ASD using both direct assessment and parent-report measures of fine and gross motor. Furthermore, it is among the first to account for nonverbal cognitive delays, a step towards elucidating the isolated role of motor impairments in FXS with and without ASD. Findings underscore the role of motor impairments as a possible signal representing greater underlying genetic liability, or as a potential catalyst or consequence, of co-occurring autism in FXS.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability, hyperactivity, and autism. FXS is due to the silencing of the X-linked FMR1 gene. Murine models of FXS, knock-out (KO) for the murine homolog Fmr1, have been generated, exhibiting CNS-related behavioral, and neuronal anomalies reminiscent of the human phenotypes. As a reflection of the almost ubiquitous expression of the FMR1 gene, FXS is also accompanied by physical abnormalities. This suggests that the FMR1-deficiency could impact skeletal ontogenesis. In the present study, we highlight that Fmr1-KO mice display changes in ...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Fragile X syndrome (FXS) is the most common known cause of single gene ASD found in up to 60 percent of boys with FXS. Individuals with this neurodevelopmental disorder also have lifelong intellectual disability and social anxiety (SA). This lecture presents results on social behavior determinants of ASD status in FXS.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: Clinical Perspectives 65 Source Type: research
This presentation will address aspects of ASD that are increasing in clinical significance and attention in peer-reviewed literature but are mentioned only rarely in presentations for practicing child and adolescent psychiatrists who care for affected patients. Attendees will be updated about the emerging relationships of ASD to mitochondrial disorders, new developments in epilepsy care, social behavior correlates in patients with fragile X syndrome, and disorders of impulsive control and aggression.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: Clinical Perspectives 65 Source Type: research
Behavioral dysregulation is a key manifestation of the fragile X syndrome (FXS) phenotype, often presenting out-of-proportion to the individual ’s cognitive level. One common behavioral cluster noted in individuals with FXS—particularly in males—is irritability, agitation, aggression, and self-injurious (IAAS) behaviors estimated to occur in at least 50 percent of individuals. Despite this significant level of patient and caregiver bu rden attributable to IAAS behaviors and the relatively high proportion of individuals with FXS who exhibit these traits, there remains limited large-scale information concer...
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
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
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is associated with increased risk for ASD, anxiety, ADHD, and epilepsy. Although our understanding of FXS pathophysiology has improved, a lack of validated blood-based biomarkers of disease continues to impede bench-to-bedside efforts. As a biomarker target in FXS, amyloid- β (Aβ) precursor protein (APP) is best understood in the context of Alzheimer disease; there is a growing body of evidence suggesting that the molecule and its derivatives play a broader role in neuronal hyperexcitability, a characteristic of FXS.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
Individuals with fragile X syndrome (FXS) often present to clinical settings for numerous concerns, including intellectual disability (ID), hyperarousal to sensory stimuli, anxiety, aggression, sleep issues, hyperactivity, and social and communication difficulties, among other concerns. These common clinical issues associated with FXS can have a lifelong impact on the affected child, parent(s), and the overall well-being of the family of the child. Thus, the severity of these clinical issues and, in turn, the quality of life (QoL) of the child and family, may be important outcome measures following intervention.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
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