Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders.
OBJECTIVE
Clinical geneticists are often asked to evaluate patients with autism spectrum disorders (ASDs) in reference to questions about cause and recurrence risk. Recent advances in diagnostic testing technology have greatly increased the options available to them. It is not currently clear what the overall diagnostic yield of a battery of tests, either collectively or individually, might be. The purpose of this study was to evaluate the diagnostic yield of a stepwise approach we have implemented in our clinics.


METHODS
We used a three-tiered neurogenetic evaluation scheme designed to determine the cause of ASDs in patients referred for clinical genetic consultation. We reviewed the results of our diagnostic evaluations on all patients referred with a confirmed diagnosis of autism over a 3-year period.


RESULTS
By using this approach, we found an overall diagnostic yield for ASDs of more than 40%. This represents a significant increase in the diagnostic yield reported just a few years ago.


CONCLUSIONS
Given the implications of these diagnoses on recurrence risk and associated medical conditions, a targeted neurogenetic evaluation of all persons with ASDs seems warranted. We discuss the issues in the future implementation of a fourth tier to the evaluation with the potential for an even higher diagnostic yield.
Schaefer
G Bradley
GB
Munroe-Meyer Institute for Genetics and Rehabilitation, 985430 University of Nebraska Medical Center, Omaha, NE 68198, USA.
Lutz
Richard E
RE
D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002985:Clinical Protocols; D003951:Diagnostic Errors; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D012189:Retrospective Studies