Course : MOC Part IV: Autism Spectrum Disorder
The autism spectrum disorders present with impaired socialization and communication in association with stereotypic behaviors. The role of the geneticist in the evaluation of patients with autism spectrum disorder is to define a specific etiology if possible, and to provide counseling based on the results of such investigations. In order to provide the appropriate testing, the accuracy of the autism diagnosis should be confirmed. Review of the medical and family history, and a physical exam of the patient should be completed. Laboratory testing strategy should include a karyotype or microarray analysis and molecular analysis for fragile X syndrome, further testing will be guided by the patient specific information obtained through history taking, examination and review of previously performed laboratory studies. Counseling of the family regarding recurrence risk will vary depending whether a specific underlying cause is identified, or if multifactorial inheritance is most likely. Counseling may also include the discussion of therapeutic interventions that benefit the patient, for example speech therapy, and other interventions which are of no documented benefit and possibly dangerous, such as chelation therapy.
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