A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

Details

• Alternative Title:
  J Autism Dev Disord
• Personal Author:
  Shapira, Stuart K. ; Tian, Lin H. ; Aylsworth, Arthur S. ; Elias, Ellen R. ; Hoover-Fong, Julie E. ; Meeks, Naomi J. L. ; Souders, Margaret C. ; Tsai, Anne C.-H. ; Zackai, Elaine H. ; Alexander, Aimee A. ; Yeargin-Allsopp, Marshalyn ; Schieve, Laura A.
• Description:
  The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.
• Subjects:
  Autism Spectrum Disorder Child Child, Preschool Child Development Craniofacial Abnormalities Ethnicity Facies Female Humans Male Phenotype

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• Keywords:
  Autism Spectrum Disorder Birth Defects Chlorination Dysmorphic Features Dysmorphology Genetic Disorders Household Water Treatment Morphologic Anomalies Phenotypic Classification Race/Ethnicity Safe Water Storage

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• Source:
  J Autism Dev Disord. 49(5):2184-2202
• Pubmed ID:
  30783897
• Pubmed Central ID:
  PMC6486433
• Document Type:
  Journal Article
• Funding:
  U10 DD000180/DD/NCBDD CDC HHSUnited States/ ; U10 DD000181/DD/NCBDD CDC HHSUnited States/ ; U10 DD000184/DD/NCBDD CDC HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; U10 DD000182/DD/NCBDD CDC HHSUnited States/ ; U10 DD000183/DD/NCBDD CDC HHSUnited States/ ; U01 DD001210/DD/NCBDD CDC HHSUnited States/ ; U01 DD000498/DD/NCBDD CDC HHSUnited States/
• Volume:
  49
• Issue:
  5
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:21accd95136c23feae1d4cf798439a94cd17669a445a774cabd2b33990dc6da6
• Download URL:
  https://stacks.cdc.gov/view/cdc/77867/cdc_77867_DS1.pdf
• File Type:
  [PDF - 429.32 KB ]