Jacobs Journal of Genetics Autism , Still A Medical Mystery ? Running
نویسنده
چکیده
Autism spectrum disorder (ASD) is defined by impaired social interaction as well as impaired language and communication accompanied by stereotyped/heartbreaking behavioral traits and increased restricted repetitive behaviors [2]. ASD describes a range of conditions (e.g. autism, social and communication deficits, Asperger disorder, childhood disintegrative disorders, pervasive developmental disorders, and rare syndromes such as such as fragile X and Rett syndrome) [3] classified as neurodevelopmental disorders in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM) (http://www.dsm5.org/Pages/Default.aspx).
منابع مشابه
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications
Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...
متن کاملAssociation of mtDNA mutation with Autism in Iranian patients
The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...
متن کاملA linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.
Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Chromosome 15q11.2-q13 is a candidate region for autism susceptibility based on observations of chromosomal duplications in a small percentage of affected individuals and findings of linkage and associat...
متن کاملGenetic counseling and ethical issues for autism.
Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may...
متن کاملMouse models of autism spectrum disorders: the challenge for behavioral genetics.
Autism is a severe neurodevelopmental disorder, which typically emerges early in childhood. The core symptoms of autism include deficits in social interaction, impaired communication, and aberrant repetitive behavior, including self-injury. Despite the strong genetic component for the disease, most cases of autism have not been linked to mutations in a specific gene, and the etiology of the dis...
متن کامل