title: Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
abstract: OBJECTIVE
  Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.
  
  
  METHODS
  We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.
  
  
  RESULTS
  The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.
  
  
  CONCLUSIONS
  Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.
authors.affiliation: 1] Department of Neurology, University of Washington, Seattle, Washington, USA [2] Department of Psychiatry, University of Washington, Seattle, Washington, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Stobbe
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington, USA.
authors.forename: Yajuan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Neurobiology, University of Washington, Seattle, Washington, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Wu
authors.affiliation: Department of Family Medicine, University of Washington, Seattle, Washington, USA.
authors.forename: Laura Heath
authors.initials: LH
authors.lastname: Hudgings
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Owen
authors.initials: O
authors.lastname: Thompson
authors.affiliation: 1] Department of Neurology, University of Washington, Seattle, Washington, USA [2] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
mesh_terms: D000328:Adult; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult