WWP1 germline variants are associated with normocephalic autism spectrum disorder
نویسندگان
چکیده
منابع مشابه
Comparison of Motor Skills in At-risk with Autism Spectrum Disorder Children with Autism Spectrum Disorder and Typical Development Children
Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder characterized by repetitive and stereotypical patterns, and difficulties with social communication and interaction in early childhood. Motor development and dysfunction in children with ASD has been the subject of study in recent years and has attracted much of the attention of researchers. As motor dysfunctions can ...
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Although the problems and disabilities caused by autism spectrum disorders are constant companions to these individuals, timely treatment interventions can provide the necessary grounds for their empowerment., However, one thing that deserves attention is that regular learning environments are not often designed to meet the needs and moods of children with autism spectrum disorder. Likewise, a...
متن کاملBumetanide in Children and Adolescents with Autism Spectrum Disorder
Introduction: Autism Spectrum Disorder (ASD) is characterized by several impairments in communications and social interactions as well as restricted interests or stereotyped behaviors. Interventions applied for this disorder are based on multi-modal approaches, including pharmacotherapy. No cure or medication has been introduced so far; therefore, there were studies investigating several drugs ...
متن کاملLiterature Review-Fathers of Children with Autism Spectrum Disorder
Objectives: The involvement of parents in raising children with autism spectrum disorder (ASD) is crucial for both the child's development and family functioning. However, studies relating to parental involvement in parenting children with ASD mainly focus on the mother's perspective, resulting in a lack of understanding of the father's role. On the other hand, the father involvement in parenti...
متن کاملInherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impact caused by two inherited and one de novo SHANK2 mutations from ASD individuals (L1008_P1009dup, ...
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ژورنال
عنوان ژورنال: Cell Death & Disease
سال: 2020
ISSN: 2041-4889
DOI: 10.1038/s41419-020-2681-z