Clinical experience implementing chromosomal microarray analysis (CMA) in a clinical psychiatric practice for adults with autism spectrum disorders (ASD) and related neurodevelopmental disorders. K. B. Teed1, A. Vahabzadeh2, J. C. Cubells1,2 1) Department of Human Genetics, Emory University School of Medicine, Atlanta, GA; 2) Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA.
The number of children diagnosed with autism spectrum disorders (ASD) began increasing sharply in the early 1990s, and the first wave of this ballooning demographic is now entering adulthood. While the number of adults with ASD is growing rapidly, clinical guidelines for application of CMA and other genomic technologies in evaluation and management of ASD remain focused largely on pediatric populations. CMA is now routinely used as a first-tier test for work-up of ASD in pediatric settings, but is not always considered for adults in psychiatric or other behavioral-health settings. We propose that CMA should be a routinely considered test for adults with ASD. To support this contention, we present data and clinical experience from more than 6 years of CMA testing at an academic tertiary care center for adults with ASD and related neurodevelopmental disorders. A total of 45 patients were tested from 2007 to 2013, chosen based on clinical judgment and availability of insurance to cover testing. Fifteen (33%) were found to have either suspected pathogenic or established pathogenic copy number variants (CNVs). The abnormal findings included previously reported ASD-associated CNVs, such as one case of 15q13.1-13.3 duplication, and one case of 9q34 deletion (Kleefstra syndrome), as well as a variety of previously unreported chromosomal differences. The molecular findings altered specific management recommendations in one case, in which discovery of a deletion disrupting MAOA and MAOB on the X chromosome of a male patient led to specific dietary and pharmacologic restrictions aimed at minimizing exposure to tyramine and other sympathomimetic compounds. The observations in this clinical series, which will be presented in detail, suggest that adult patients with ASD and related neurodevelopmental disorders can benefit from CMA. We hypothesize that such benefits will increase as our knowledge about genes and recurrent CNV continues to expand.
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