ERIC Number: EJ875738
Record Type: Journal
Publication Date: 2010-Feb
Abstractor: As Provided
Reference Count: 0
Genetic Causes of Syndromic and Non-Syndromic Autism
Caglayan, Ahmet O.
Developmental Medicine & Child Neurology, v52 n2 p130-138 Feb 2010
Aims: Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single-base mutations implicated in the causation of autism. Method: In this study the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Results: Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. Interpretation: Comprehensive research into the molecular mechanism of autism is required to aid the development of disease-specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.
Descriptors: Autism, Testing, Genetics, Therapy, Diagnostic Tests, Pervasive Developmental Disorders, Correlation, Molecular Structure, Etiology, Research Needs, Transfer of Training
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Publication Type: Information Analyses; Journal Articles; Reports - Evaluative
Education Level: N/A
Authoring Institution: N/A