Cited by 467Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersChild and Animal Learning Development

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Defining the broader phenotype of autism: Genetic, brain, and behavioral perspectives

DAWSON, GERALDINE, WEBB, SARA, SCHELLENBERG, GERARD D., DAGER, STEPHEN, FRIEDMAN, SETH, AYLWARD, ELIZABETH, RICHARDS, TODD·2002·Development and Psychopathology

DOI 10.1017/s0954579402003103

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Abstract

Achieving progress in understanding the cause, nature, and treatment of autism requires an integration of concepts, approaches, and empirical findings from genetic, cognitive neuroscience, animal, and clinical studies. The need for such integration has been a fundamental tenet of the discipline of developmental psychopathology from its inception. It is likely that the discovery of autism susceptibility genes will depend on the development of dimensional measures of broader phenotype autism traits. It is argued that knowledge of the cognitive neuroscience of social and language behavior will provide a useful framework for defining such measures. In this article, the current state of knowledge of the cognitive neuroscience of social and language impairments in autism is reviewed. Following from this, six candidate broader phenotype autism traits are proposed: (a) face processing, including structural encoding of facial features and face movements, such as eye gaze; (b) social affiliation or sensitivity to social reward, pertaining to the social motivational impairments found in autism; (c) motor imitation ability, particularly imitation of body actions; (d) memory, specifically those aspects of memory mediated by the medial temporal lobe–prefrontal circuits; (e) executive function, especially planning and flexibility; and (f) Language ability, particularly those aspects of language that overlap with specific language impairment, namely, phonological processing.

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Authors: DAWSON, G., WEBB, S., SCHELLENBERG, G. D., DAGER, S., FRIEDMAN, S., AYLWARD, E., & RICHARDS, T.
Affiliations: University of Washington (US)
Veterans Health Administration (US)
ORCID: WEBB, SARA
SCHELLENBERG, GERARD D.
DAGER, STEPHEN
FRIEDMAN, SETH
AYLWARD, ELIZABETH
Venue: Development and Psychopathology
Publisher: Cambridge University Press (CUP)
Published: 2002-08-20
Volume: 14
Issue: 3
Pages: 581-611
ISSN: 0954-5794 (ISSN-L)
1469-2198
DOI: 10.1017/s0954579402003103
OpenAlex: W2110929953
Semantic Scholar: e7edba1d2eb953cc111848a2a9dd904bc4832085
Cited by: 467
References: 54
Citations by year: 2026: 4 · 2025: 5 · 2024: 10 · 2023: 9 · 2022: 62 · 2021: 10 · 2020: 10 · 2019: 9 · 2018: 7 · 2017: 11 · 2016: 18 · 2015: 23 · 2014: 20 · 2013: 21 · 2012: 25
FWCI: 7.65
Type: journal article
Language: en
Open access: closed
Licence: www.cambridge.org/core/terms (unspecified)
Locations: Development and Psychopathology (publishedVersion)
PubMed (publishedVersion)
Funders: Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01 HD 34565)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Social Sciences › Psychology › Developmental and Educational Psychology › Child and Animal Learning Development
Keywords: autism spectrum disorder, autistic traits, autism susceptibility genes, face processing, gaze, social affiliation, motor imitation, memory, executive function, planning, cognitive flexibility, language impairment, phonological processing, specific language impairment
MeSH terms: Autistic Disorder, Brain, Child, Child Behavior Disorders, Evoked Potentials, Humans, Language Disorders, Magnetic Resonance Imaging, Perceptual Disorders, Phenotype, Phonetics, Speech Perception, Temporal Lobe, Twin Studies as Topic

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Defining the broader phenotype of autism: Genetic, brain, and behavioral perspectives

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