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

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TitleA Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
Publication TypeJournal Article
Year of Publication2019
AuthorsShapira, SK, Tian, LH, Aylsworth, AS, Elias, ER, Hoover-Fong, JE, Meeks, NJL, Souders, MC, Tsai, AC-H, Zackai, EH, Alexander, AA, Yeargin-Allsopp, M, Schieve, LA
JournalJ Autism Dev Disord
Volume49
Issue5
Pagination2184-2202
Date Published2019 May
ISSN1573-3432
Abstract

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.

DOI10.1007/s10803-019-03899-0
Alternate JournalJ Autism Dev Disord
PubMed ID30783897
PubMed Central IDPMC6486433
Grant ListU10 DD000180 / DD / NCBDD CDC HHS / United States
U10 DD000181 / DD / NCBDD CDC HHS / United States
U10 DD000184 / DD / NCBDD CDC HHS / United States
U01 DD000498 / DD / NCBDD CDC HHS / United States
CC999999 / / Intramural CDC HHS / United States
U10 DD000182 / DD / NCBDD CDC HHS / United States
U10 DD000183 / DD / NCBDD CDC HHS / United States