Autism: A model of neurodevelopmental diversity informed by genomics

Definitions of autism are constantly in flux and the validity and utility of diagnostic criteria remain hotly debated. The boundaries of autism are unclear and there is considerable heterogeneity within autistic individuals. Autistic individuals experience a range of co-occurring conditions notably...

Full description

Bibliographic Details
Main Authors: Samuel J. R. A. Chawner, Michael J. Owen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Psychiatry
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2022.981691/full
_version_ 1828349733263900672
author Samuel J. R. A. Chawner
Michael J. Owen
author_facet Samuel J. R. A. Chawner
Michael J. Owen
author_sort Samuel J. R. A. Chawner
collection DOAJ
description Definitions of autism are constantly in flux and the validity and utility of diagnostic criteria remain hotly debated. The boundaries of autism are unclear and there is considerable heterogeneity within autistic individuals. Autistic individuals experience a range of co-occurring conditions notably including other childhood onset neurodevelopmental conditions such as intellectual disability, epilepsy and ADHD, but also other neuropsychiatric conditions. Recently, the neurodiversity movement has challenged the conception of autism as a medical syndrome defined by functional deficits. Whereas others have argued that autistic individuals with the highest support needs, including those with intellectual disability and limited functional communication, are better represented by a medical model. Genomic research indicates that, rather than being a circumscribed biological entity, autism can be understood in relation to two continua. On the one hand, it can be conceived as lying on a continuum of population variation in social and adaptive functioning traits, reflecting in large part the combination of multiple alleles of small effect. On the other, it can be viewed as lying on a broader neurodevelopmental continuum whereby rare genetic mutations and environmental risk factors impact the developing brain, resulting in a diverse spectrum of outcomes including childhood-onset neurodevelopmental conditions as well as adult-onset psychiatric conditions such as schizophrenia. This model helps us understand heterogeneity within autism and to reconcile the view that autism is a part of natural variability, as advocated by the neurodiversity movement, with the presence of co-occurring disabilities and impairments of function in some autistic individuals.
first_indexed 2024-04-14T01:14:54Z
format Article
id doaj.art-533492ee237040c380dd5176a212ae89
institution Directory Open Access Journal
issn 1664-0640
language English
last_indexed 2024-04-14T01:14:54Z
publishDate 2022-09-01
publisher Frontiers Media S.A.
record_format Article
series Frontiers in Psychiatry
spelling doaj.art-533492ee237040c380dd5176a212ae892022-12-22T02:20:54ZengFrontiers Media S.A.Frontiers in Psychiatry1664-06402022-09-011310.3389/fpsyt.2022.981691981691Autism: A model of neurodevelopmental diversity informed by genomicsSamuel J. R. A. ChawnerMichael J. OwenDefinitions of autism are constantly in flux and the validity and utility of diagnostic criteria remain hotly debated. The boundaries of autism are unclear and there is considerable heterogeneity within autistic individuals. Autistic individuals experience a range of co-occurring conditions notably including other childhood onset neurodevelopmental conditions such as intellectual disability, epilepsy and ADHD, but also other neuropsychiatric conditions. Recently, the neurodiversity movement has challenged the conception of autism as a medical syndrome defined by functional deficits. Whereas others have argued that autistic individuals with the highest support needs, including those with intellectual disability and limited functional communication, are better represented by a medical model. Genomic research indicates that, rather than being a circumscribed biological entity, autism can be understood in relation to two continua. On the one hand, it can be conceived as lying on a continuum of population variation in social and adaptive functioning traits, reflecting in large part the combination of multiple alleles of small effect. On the other, it can be viewed as lying on a broader neurodevelopmental continuum whereby rare genetic mutations and environmental risk factors impact the developing brain, resulting in a diverse spectrum of outcomes including childhood-onset neurodevelopmental conditions as well as adult-onset psychiatric conditions such as schizophrenia. This model helps us understand heterogeneity within autism and to reconcile the view that autism is a part of natural variability, as advocated by the neurodiversity movement, with the presence of co-occurring disabilities and impairments of function in some autistic individuals.https://www.frontiersin.org/articles/10.3389/fpsyt.2022.981691/fullautismgenomicsco-occurring disordersneurodiversityneurodevelopmental outcome
spellingShingle Samuel J. R. A. Chawner
Michael J. Owen
Autism: A model of neurodevelopmental diversity informed by genomics
Frontiers in Psychiatry
autism
genomics
co-occurring disorders
neurodiversity
neurodevelopmental outcome
title Autism: A model of neurodevelopmental diversity informed by genomics
title_full Autism: A model of neurodevelopmental diversity informed by genomics
title_fullStr Autism: A model of neurodevelopmental diversity informed by genomics
title_full_unstemmed Autism: A model of neurodevelopmental diversity informed by genomics
title_short Autism: A model of neurodevelopmental diversity informed by genomics
title_sort autism a model of neurodevelopmental diversity informed by genomics
topic autism
genomics
co-occurring disorders
neurodiversity
neurodevelopmental outcome
url https://www.frontiersin.org/articles/10.3389/fpsyt.2022.981691/full
work_keys_str_mv AT samueljrachawner autismamodelofneurodevelopmentaldiversityinformedbygenomics
AT michaeljowen autismamodelofneurodevelopmentaldiversityinformedbygenomics