Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

@article{Schaefer2008GeneticsEF,
  title={Genetics evaluation for the etiologic diagnosis of autism spectrum disorders},
  author={Gerald Bradley Schaefer and Nancy J. Mendelsohn},
  journal={Genetics in Medicine},
  year={2008},
  volume={10},
  pages={4-12}
}
Over the past decade, the reported incidence of autism spectrum disorders has continued to increase. Coincident with this, the number of referrals to clinical geneticists to identify the etiology has also dramatically increased. The reported diagnostic yield for autism spectrum disorders is commonly reported in the range of 6–15%. However, continued advances in genetic technology expand the diagnostic options available for these evaluations and presumably increase the diagnostic yield. The list… 
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
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  • 2016
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How some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder is discussed, and it is argued that only through such advances will the authors begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments.
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Autism is a developmental disorder associated with an abnormal biology and chemistry in the brain which causes are unknown; it is still difficult to find an approach for the diagnosis of this
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It was found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era, which suggests troubling disparities observed in other services delivered to children with autistic disorders persist in genetic testing and counseling.
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