Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives
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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Autistic children are less sensitive to social feedback, while they show no deficient sensitivity to non-social feedback.
“These studies all show that, compared to TD children, autistic children are less sensitive to social feedback, e.g. smiling or words of appreciation, while they show no deficient sensitivity to non-social feedback, e.g. money or sensory feedback (Dawson et al., 2002; Garretson et al., 1990; Ingersoll et al., 2003).”
From Error and feedback processing in children with ADHD and children with Autistic Spectrum Disorder: An EEG event-related potential study (2008) · cites this paper as Dawson et al., 2002
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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)
- 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
- 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
- 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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