Angelman & Rett Syndrome: Interaction and Communication

Conditions:   Behavior, Child;   Parent-Child Relations;   Communication Interventions:   Behavioral: Observation;   Behavioral: Parental experiences Sponsors:   Universitaire Ziekenhuizen Leuven;   KU Leuven Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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Conditions:   Behavior, Child;   Parent-Child Relations;   Communication Interventions:   Behavioral: Observation;   Behavioral: Parental experiences Sponsors:   Universitaire Ziekenhuizen Leuven;   KU Leuven Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Abstract Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% fo...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Publication date: February 2019Source: Current Opinion in Behavioral Sciences, Volume 25Author(s): Shu-qun Shi, Carl Hirschie JohnsonSleep disturbances are common in people with monogenic neurological disorders and they dramatically affect the life of individuals with the disorders and their families. The associated sleep problems are probably caused by multiple factors that have not been elucidated. Study of the underlying molecular cause, behavioral phenotypes, and reciprocal interactions in several single-gene disorders (Angelman Syndrome, Fragile X Syndrome, Rett Syndrome, and Huntington’s Disease) leads to the s...
Source: Current Opinion in Behavioral Sciences - Category: Psychiatry & Psychology Source Type: research
Abstract Mutant mouse models of neurodevelopmental disorders with intellectual disabilities provide useful translational research tools, especially in cases where robust cognitive deficits are reproducibly detected. However, motor, sensory, and/or health issues consequent to the mutation may introduce artifacts that preclude testing in some standard cognitive assays. Touchscreen learning and memory tasks in small operant chambers have the potential to circumvent these confounds. Here we employ touchscreen visual discrimination learning to evaluate performance in the maternally derived Ube3a mouse model of Angelman syndrome...
Source: Genes, Brain and Behavior - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Neurodevelopmental disorders (NDDs) represent a diverse group of syndromes characterized by abnormal development of the central nervous system and whose symptomatology includes cognitive, emotional, sensory, and motor impairments. The identification of causative genetic defects has allowed for creation of transgenic NDD mouse models that have revealed pathophysiological mechanisms of disease phenotypes in a neural circuit- and cell type-specific manner. Mouse models of several syndromes, including Rett syndrome, Fragile X syndrome, Angelman syndrome, Neurofibromatosis type 1, etc., exhibit abnormalities i...
Source: Current Opinion in Neurobiology - Category: Neurology Authors: Tags: Curr Opin Neurobiol Source Type: research
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