Genetic Heterogeneity Between the Three Components of the Autism Spectrum: A Twin Study
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Objective This study investigated the etiology of autistic-like traits in the general population and the etiological overlap between the three aspects of the triad of impairments (social impairments, communication impairments, restricted repetitive behaviors and interests) that together define autism spectrum disorders.Method Parents of 3,400 8-year-old twin pairs from the Twins Early Development Study completed the Childhood Asperger Syndrome Test, a screening instrument for autism spectrum symptoms in mainstream samples. Genetic model-fitting of categorical and continuous data is reported.Results High heritability was found for extreme autistic-like traits (0.64-0.92 for various cutoffs) and autistic-like traits as measured on a continuum (0.78-0.81), with no significant shared environmental influences. All three subscales were highly heritable but showed low covariation. In the genetic modeling, distinct genetic influences were identified for the three components.Conclusions These results suggest the triad of impairments that define autism spectrum disorders is heterogeneous genetically. Molecular genetic research examining the three components separately may identify different causal pathways for the three components. The analyses give no indication that different genetic processes affect extreme autistic impairments and autistic impairments as measured on a continuum, but this can only be directly tested once genes are identified.
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Family history and twin studies suggest that, at least in some cases, ASD share genetic roots.
“Family history and twin studies suggest that, at least in some cases, these disorders share genetic roots1, 2.”
From Altered proliferation and networks in neural cells derived from idiopathic autistic individuals (2017) · cites this paper as [2]
Population studies using multiple measures of sub-threshold autistic traits suggest that language, social function, and repetitive or stereotyped behaviors are separate components contributing to ASD.
“Studies using multiple measures of sub-threshold autistic traits in population cohorts suggest that different components, separately representing language, social function and repetitive or stereotyped behaviors contribute to ASD [22–24].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [23]
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- Indu B. Ahluwalia, MPH, PhD, Brian Morrow, MA, Jason Hsia, PhD Objective: We examined breastfeeding behaviors, periods of vulnerability for breastfeeding cessation, reasons for breastfeeding cessation, and the association between predelivery intentions and breastfeeding behaviors. Study Design: Using 2 years (2000 and 2001) of data from the Pregnancy Risk Assessment and Monitoring System we assessed the percentage of women who began breastfeeding, continued for G1 week, continued for 1 to 4 weeks, and continued for 94 weeks and their reasons for not initiating or stopping. Predelivery breastfeeding intentions of women and their relationship with subsequent breastfeeding behaviors were examined also. Results: We found that 32% of women did not initiate breastfeeding, 4% started but stopped within the first week, 13% stopped within the first month, and 51 % continued for 94 weeks. Younger women and those with limited socioeconomic resources were more likely to stop breastfeeding within the first month. Reasons for cessation included sore nipples, inadequate milk supply, infant having difficulties, and the perception that the infant was not satiated. Women who intended to breastfeed, thought they might breastfeed, or had ambivalent feelings about breastfeeding were more likely to initiate breastfeeding and to continue through the vulnerable periods of early infancy than were those who did not plan to findings indicate a need to provide extensive breastfeeding support after delivery, particularly to women who may experience difficulties in breastfeeding. Pediatrics 2005;116:1408Y1412.
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“Each symptom domain is moderately to highly heritable but it may be that independent genes are responsible for each symptom domain (Constantino & Todd, 2003; Ronald et al. 2005, 2006a, b ; for a review see Happé & Ronald, 2008).”
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- Authors
- RONALD, A., HAPPÉ, F., BOLTON, P., BUTCHER, L. M., PRICE, T. S., WHEELWRIGHT, S., BARON-COHEN, S., & PLOMIN, R.
- Affiliations
- King's College London (GB)
- Corresponding author
- RONALD, ANGELICA
- Venue
- Journal of the American Academy of Child & Adolescent Psychiatry
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 45
- Issue
- 6
- Pages
- 691-699
- ISSN
- 0890-8567 (ISSN-L)
- OpenAlex
- W2029842229
- Cited by
- 508
- References
- 32
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 7 · 2023: 13 · 2022: 23 · 2021: 23 · 2020: 16 · 2019: 19 · 2018: 22 · 2017: 26 · 2016: 26 · 2015: 32 · 2014: 42 · 2013: 36 · 2012: 31
- FWCI
- 16.03
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- BIROn (Birkbeck, University of London) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- The Twins Early Development Study is funded by MRC (G0500079)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, autistic traits, genetic heterogeneity, heritability, triad of impairments, social dysfunction, communication disorders, restricted and repetitive behaviors, twin studies, genetic modeling, shared environment
- MeSH terms
- Autistic Disorder, Child, Communication Disorders, Environment, Humans, Interview, Psychological, Male, Social Behavior Disorders, Genetic Heterogeneity, Asperger Syndrome
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