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The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood
Abstract
OBJECTIVE: Autism spectrum disorders are considered to be among the most heritable mental disorders, a notion based on surprisingly sparse data from small clinical studies. Population-based studies of the heritability of other neuropsychiatric disorders and comorbidities among them have also been sparse. The authors sought to address both of these issues. METHOD: Parents of all Swedish 9- and 12-year-old twin pairs born between 1992 and 2000 (N=10,895) were interviewed regarding autism spectrum disorders and associated conditions (response rate, 80%). Concordance rates and structural equation modeling were used for evaluating causes for familial aggregation and overlap between conditions. RESULTS: Monozygotic twins had higher concordance rates than dizygotic twins for autism spectrum disorders, attention deficit hyperactivity disorder (ADHD), developmental coordination disorder, and tic disorder. Genetic effects accounted for 80% (95% CI=29-91) of the variation in liability for autism spectrum disorders, 79% (95% CI=61-88) for ADHD, 70% (95% CI=35-83) for developmental coordination disorder, and 56% (95% CI=37-68) for tic disorder. Among monozygotic co-twins of children with autism spectrum disorders, the probability of having a diagnosis of ADHD was 44%, compared with 15% for dizygotic co-twins. Differences in cross-disorder effects between monozygotic and dizygotic twins were observed for most other comorbidities, and substantial proportions of the genetic variance for autism spectrum disorders was shared with each of the other disorders. CONCLUSIONS: Different neuropsychiatric disorders seem to have a common genetic etiology, suggesting caution in the use of diagnostic entities and proband status in efforts to uncover genes predisposing to autism spectrum disorders.
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“A genetic contribution is well established from twin studies (Bailey et al., 1995; Lichtenstein et al., 2010)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Lichtenstein et al., 2010
In the citing paper
“A total of 154 twin pairs had participated in RATSS as of September 2016, which includes 11.3% of all ASD discordant twins in Sweden in the specified age range13.”
From Fetal and postnatal metal dysregulation in autism (2017) · cites this paper as [13]
In the citing paper
“Currently, RATSS includes 11.3% of all ASD discordant twins in Sweden in the specified age range13.”
From Fetal and postnatal metal dysregulation in autism (2017) · cites this paper as [13]
In the citing paper
“Limitations of the study are a relatively small non-random sample, although the sample size was adequate to uncover significant associations after stringent statistical adjustments, and our twin sample represented a significant subsample (11.3%) of the total population of twins discordant for ASD in Sweden in the examined age range13.”
From Fetal and postnatal metal dysregulation in autism (2017) · cites this paper as [13]
In the citing paper
“several twin studies have suggested that this aggregation within families is best explained by shared genes as opposed to shared environment”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [8]
In the citing paper
“One study showed that monozygotic twins had higher concordance rates than dizygotic twins for ASDs, attention deficit hyperactivity disorder (ADHD), developmental coordination disorder, and tic disorder”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [8]
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The Swedish Twin Registry: Content and Management as a Research Infrastructure
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Self-citationExamining overlap and homogeneity in ASD, ADHD, and OCD: a data-driven, diagnosis-agnostic approach
Kushki, A., Anagnostou, E. A., Hammill, C. F., Duez, P., Brian, J. A., Iaboni, A., Schachar, R. J., Crosbie, J., Arnold, P. D., & Lerch, J. P. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0631-2 · Cited by 160
Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD
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Symptoms of autism and ADHD: A Swedish twin study examining their overlap.
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Self-citationDifferent neurodevelopmental symptoms have a common genetic etiology
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The co-occurrence of autistic and ADHD dimensions in adults: an etiological study in 17 770 twins
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Parental psychiatric disorders and autism spectrum disorders
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Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations
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A twin study of heritable and shared environmental contributions to autism
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“…recent study by Hallmayer et al. (2011), using a large, carefully ascertained ASDaffected twin sample, identified a substantial environmental contribution to ASD diagnosis (*58 %), although other studies have found minimal shared environmental effects (Bailey et al. 1995; Lichtenstein et al. 2010).”
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Metadata
- Authors
- Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C., & Anckarsäter, H.
- Affiliations
- Lund University (SE)
- Venue
- American Journal of Psychiatry
- Published
- 2010-11
- Volume
- 167
- Issue
- 11
- Pages
- 1357-1363
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- OpenAlex
- W1974467112
- Cited by
- 738
- References
- 39
- Citations by year
- 2026: 9 · 2025: 22 · 2024: 33 · 2023: 31 · 2022: 37 · 2021: 34 · 2020: 45 · 2019: 51 · 2018: 47 · 2017: 56 · 2016: 55 · 2015: 71 · 2014: 71 · 2013: 78 · 2012: 49
- FWCI
- 33.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- 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, heritability, monozygotic twins, dizygotic twins, concordance rate, attention deficit hyperactivity disorder, developmental coordination disorder, tic disorders, neuropsychiatric comorbidity, genetic susceptibility, familial aggregation
- MeSH terms
- Attention Deficit Disorder with Hyperactivity, Child, Child Development Disorders, Pervasive, Diseases in Twins, Female, Genotype, Humans, Learning Disabilities, Male, Models, Genetic, Phenotype, Sex Factors, Social Environment, Tic Disorders, Twins, Dizygotic, Twins, Monozygotic, Genetic Variation, Comorbidity, Quantitative Trait, Heritable, Motor Skills Disorders, Neurocognitive Disorders, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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