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

• 影响指数: 4.345
• 发表时间: May 2019
• 来源期刊: J Autism Dev Disord
• DOI: 10.1007/s10803-019-03899-0
• PMID: 30783897
• 文章类型: Journal Article
• 作者列表: Shapira SK,Tian LH,Aylsworth AS,Elias ER,Hoover-Fong JE,Meeks NJL,Souders MC,Tsai AC,Zackai EH,Alexander AA,Yeargin-Allsopp M,Schieve LA

关键词: Autism spectrum disorder; Birth defects; Dysmorphic features; Dysmorphology; Genetic disorders; Morphologic anomalies; Phenotypic classification; Race/ethnicity

Mesh: Autism Spectrum Disorder / classification complications diagnosis; Child; Child Development; Child, Preschool; Craniofacial Abnormalities / complications; Ethnicity; Facies; Female; Humans; Male; Phenotype

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.