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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis... IntroductionA key research priority in the study of autism spectrum conditions (ASC) is discovery of biological markers that may assist with earlier identification, intervention, and provide insights into potential etiological pathways. One physical marker that has received increasing research attention is facial structure. Although many disorders have characteristic facial features (e.g., Down Syndrome [Farkas, Katic, Forrest, & Litsas, ], Williams Syndrome [Morris, Demsey, Leonard, Dilts, & Blackburn, ], Fetal Alcohol Syndrome [Mutsvangwa & Douglas, ]), ASC is not typically thought to be associated with distinguishing physical phenotypes. However, over the past two decades, an accumulating body of research has reported increased rates of minor physical anomalies (MPAs) among individuals with ASC compared to typically developing (TD) individuals. MPAs reported in ASC have been observed across multiple areas of the body, including the head, hands, and feet [Angkustsiri et al., ; Cheung et al., ; Manouilenko, Eriksson, Humble, & Bejerot, ; Ozgen, Hop, Hox, Beemer, & van Engeland, ; Ozgen et al., ; Rodier, Bryson, & Welch, ]. Of particular note, reoccurrence of anomalies in the craniofacial region suggests there may be facial characteristics related to subpopulations of ASC. The face and brain are inherently linked in utero by common http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Autism Research Wiley

Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

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References (46)

Publisher
Wiley
Copyright
© 2017 International Society for Autism Research, Wiley Periodicals, Inc.
ISSN
1939-3792
eISSN
1939-3806
DOI
10.1002/aur.1824
pmid
28816000
Publisher site
See Article on Publisher Site

Abstract

IntroductionA key research priority in the study of autism spectrum conditions (ASC) is discovery of biological markers that may assist with earlier identification, intervention, and provide insights into potential etiological pathways. One physical marker that has received increasing research attention is facial structure. Although many disorders have characteristic facial features (e.g., Down Syndrome [Farkas, Katic, Forrest, & Litsas, ], Williams Syndrome [Morris, Demsey, Leonard, Dilts, & Blackburn, ], Fetal Alcohol Syndrome [Mutsvangwa & Douglas, ]), ASC is not typically thought to be associated with distinguishing physical phenotypes. However, over the past two decades, an accumulating body of research has reported increased rates of minor physical anomalies (MPAs) among individuals with ASC compared to typically developing (TD) individuals. MPAs reported in ASC have been observed across multiple areas of the body, including the head, hands, and feet [Angkustsiri et al., ; Cheung et al., ; Manouilenko, Eriksson, Humble, & Bejerot, ; Ozgen, Hop, Hox, Beemer, & van Engeland, ; Ozgen et al., ; Rodier, Bryson, & Welch, ]. Of particular note, reoccurrence of anomalies in the craniofacial region suggests there may be facial characteristics related to subpopulations of ASC. The face and brain are inherently linked in utero by common

Journal

Autism ResearchWiley

Published: Jan 1, 2017

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