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Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.

Bonita P Klein-TasmanCarolyn B Mervis
Published in: Journal of autism and developmental disorders (2019)
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
Keyphrases
  • autism spectrum disorder
  • copy number
  • intellectual disability
  • attention deficit hyperactivity disorder
  • young adults
  • mitochondrial dna
  • genome wide
  • machine learning
  • deep learning