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

Stuart K. Shapira; Lin H. Tian; Arthur S. Aylsworth; Ellen R. Elias; Julie E. Hoover-Fong; Naomi J.L. Meeks; Margaret C. Souders; Anne C.H. Tsai; Elaine H. Zackai; Aimee A. Alexander; Marshalyn Yeargin-Allsopp; Laura A. Schieve

doi:10.1007/s10803-019-03899-0

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

Stuart K. Shapira, Lin H. Tian, Arthur S. Aylsworth, Ellen R. Elias, Julie E. Hoover-Fong, Naomi J.L. Meeks, Margaret C. Souders, Anne C.H. Tsai, Elaine H. Zackai, Aimee A. Alexander, Marshalyn Yeargin-Allsopp, Laura A. Schieve

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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.

Original language	English (US)
Pages (from-to)	2184-2202
Number of pages	19
Journal	Journal of autism and developmental disorders
Volume	49
Issue number	5
DOIs	https://doi.org/10.1007/s10803-019-03899-0
State	Published - May 15 2019

Keywords

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

ASJC Scopus subject areas

Developmental and Educational Psychology

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10.1007/s10803-019-03899-0

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Shapira, S. K., Tian, L. H., Aylsworth, A. S., Elias, E. R., Hoover-Fong, J. E., Meeks, N. J. L., Souders, M. C., Tsai, A. C. H., Zackai, E. H., Alexander, A. A., Yeargin-Allsopp, M., & Schieve, L. A. (2019). A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. Journal of autism and developmental disorders, 49(5), 2184-2202. https://doi.org/10.1007/s10803-019-03899-0

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. / Shapira, Stuart K.; Tian, Lin H.; Aylsworth, Arthur S. et al.
In: Journal of autism and developmental disorders, Vol. 49, No. 5, 15.05.2019, p. 2184-2202.

Research output: Contribution to journal › Article › peer-review

Shapira, SK, Tian, LH, Aylsworth, AS, Elias, ER, Hoover-Fong, JE, Meeks, NJL, Souders, MC, Tsai, ACH, Zackai, EH, Alexander, AA, Yeargin-Allsopp, M & Schieve, LA 2019, 'A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development', Journal of autism and developmental disorders, vol. 49, no. 5, pp. 2184-2202. https://doi.org/10.1007/s10803-019-03899-0

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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.",

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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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Keywords

ASJC Scopus subject areas

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