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Cited by 169Autism Spectrum Disorder ResearchLanguage Development and DisordersGenetics and Neurodevelopmental Disorders

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Overlaps Between Autism and Language Impairment: Phenomimicry or Shared Etiology?

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Bishop, D. V. M.·2010·Behavior Genetics
DOI 10.1007/s10519-010-9381-xPMC PMC2921070
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Abstract

Traditionally, autistic spectrum disorder (ASD) and specific language impairment (SLI) are regarded as distinct conditions with separate etiologies. Yet these disorders co-occur at above chance levels, suggesting shared etiology. Simulations, however, show that additive pleiotropic genes cannot account for observed rates of language impairment in relatives, which are higher for probands with SLI than for those with ASD + language impairment. An alternative account is in terms of 'phenomimicry', i.e., language impairment in comorbid cases may be a consequence of ASD risk factors, and different from that seen in SLI. However, this cannot explain why molecular genetic studies have found a common risk genotype for ASD and SLI. This paper explores whether nonadditive genetic influences could account for both family and molecular findings. A modified simulation involving G x G interactions obtained levels of comorbidity and rates of impairment in relatives more consistent with observed values. The simulations further suggest that the shape of distributions of phenotypic trait scores for different genotypes may provide evidence of whether a gene is involved in epistasis.

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Fig. 1 Traditional model of specific language impairment (SLI) and autism spectrum disorder (ASD) as separate disorders with distinct etiologies. Both disorders are conceptualised as spectrum disorders, with disorder identified when a continuous underlying causal trait falls below a threshold
Fig. 1 Traditional model of specific language impairment (SLI) and autism spectrum disorder (ASD) as separate disorders with distinct etiologies. Both disorders are conceptualised as spectrum disorders, with disorder identified when a continuous underlying causal trait falls below a thresholdCC BY-NC · PubMed Central
Fig. 2 Correlated additive risks (CAR) model. SLI specific language impairment, ASD autism spectrum disorder
Fig. 2 Correlated additive risks (CAR) model. SLI specific language impairment, ASD autism spectrum disorderCC BY-NC · PubMed Central
Fig. 3 Simulated data from CAR model showing proportions of relatives of probands with SLI, ASD and ASD+LI (labelled above histograms), with diagnosis in relatives indicated by shading, for four levels of r g. Note that the scale for the relatives of SLI probands is broken so that the full range can be shown for all groups. SLI specific language impairment, ASD autism spectrum disorder, ASD+LI ‘comorbid’ cases
Fig. 3 Simulated data from CAR model showing proportions of relatives of probands with SLI, ASD and ASD+LI (labelled above histograms), with diagnosis in relatives indicated by shading, for four levels of r g. Note that the scale for the relatives of SLI probands is broken so that the full range can be shown for all groups. SLI specific language impairment, ASD autism spectrum disorder, ASD+LI ‘comorbid’ casesCC BY-NC · PubMed Central
Fig. 4 Simulated data from correlated additive risks model showing mean scores for probands (unbroken lines) and their first degree relatives (dashed lines) in relation to proband diagnosis, for 10-gene model, with 0, 2, 4 or 6 pleiotropic genes, denoted by shading from pale grey (0 pleiotropic) to black (6 pleiotropic). Relatives who meet criteria for ASD are excluded from the means. SLI specific language impairment, ASD autism spectrum disorder, ASD+LI ‘comorbid’ cases
Fig. 4 Simulated data from correlated additive risks model showing mean scores for probands (unbroken lines) and their first degree relatives (dashed lines) in relation to proband diagnosis, for 10-gene model, with 0, 2, 4 or 6 pleiotropic genes, denoted by shading from pale grey (0 pleiotropic) to black (6 pleiotropic). Relatives who meet criteria for ASD are excluded from the means. SLI specific language impairment, ASD autism spectrum disorder, ASD+LI ‘comorbid’ casesCC BY-NC · PubMed Central
Fig. 5 Phenomimicry model: the phenotype of autism spectrum disorder (ASD) can lead to language impairment (LI), but the resemblance with specific language impairment (SLI) is superficial and those with ASD+LI do not have risk factors for SLI
Fig. 5 Phenomimicry model: the phenotype of autism spectrum disorder (ASD) can lead to language impairment (LI), but the resemblance with specific language impairment (SLI) is superficial and those with ASD+LI do not have risk factors for SLICC BY-NC · PubMed Central
Fig. 6 Correlated risks with epistasis model. The shield-shaped symbol depicts an AND gate, whereby there is an extra impact on the language trait only if both risk factors X and Y are present
Fig. 6 Correlated risks with epistasis model. The shield-shaped symbol depicts an AND gate, whereby there is an extra impact on the language trait only if both risk factors X and Y are presentCC BY-NC · PubMed Central
Fig. 7 Simulated data from correlated risks with epistasis model showing distributions of scores for 5000 probands on language trait (three leftmost plots) and ASD trait (three rightmost plots) for aa, aA and AA genotypes of 10 genes. For genes 1–5, the a allele confers risk for language impairment, and for genes 1 and 6–10 the a allele confers risk for ASD. G × G interaction is specified so that when the aa genotype is present for gene 1 in the context of either aa genotypes for genes 7 and 8, or for genes 9 and 10, its effect is doubled. Red denotes that the mean on a trait for aa genotype is significantly lower than for other genotypes on t-test, and magenta that the mean for the aA genotype is lower than for AA. Bold lines denote cases where the variance on a trait for the aa genotype is significantly greater than for other genotypes on F-test
Fig. 7 Simulated data from correlated risks with epistasis model showing distributions of scores for 5000 probands on language trait (three leftmost plots) and ASD trait (three rightmost plots) for aa, aA and AA genotypes of 10 genes. For genes 1–5, the a allele confers risk for language impairment, and for genes 1 and 6–10 the a allele confers risk for ASD. G × G interaction is specified so that when the aa genotype is present for gene 1 in the context of either aa genotypes for genes 7 and 8, or for genes 9 and 10, its effect is doubled. Red denotes that the mean on a trait for aa genotype is significantly lower than for other genotypes on t-test, and magenta that the mean for the aA genotype is lower than for AA. Bold lines denote cases where the variance on a trait for the aa genotype is significantly greater than for other genotypes on F-testCC BY-NC · PubMed Central

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  1. World Health Organization (1993) The ICD-10 classification for mental and behavioural disorders: diagnostic criteria for research. WHO, Geneva

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Metadata

Authors
Bishop, D. V. M.
Affiliations
University of Oxford (GB)
Corresponding author
Bishop, D. V. M.
ORCID
Bishop, D. V. M.
Venue
Behavior Genetics
Publisher
Springer Science and Business Media LLC
Published
2010-07-18
Volume
40
Issue
5
Pages
618-629
ISSN
  • 0001-8244 (ISSN-L)
  • 1573-3297
DOI
10.1007/s10519-010-9381-x
PMC
PMC2921070
OpenAlex
W2001905680
Cited by
169
References
59
Citations by year
2026: 2 · 2025: 10 · 2024: 11 · 2023: 29 · 2022: 8 · 2021: 12 · 2020: 7 · 2019: 9 · 2018: 8 · 2017: 11 · 2016: 9 · 2015: 8 · 2014: 13 · 2013: 15 · 2012: 8
FWCI
6.21
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Behavior Genetics (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Oxford University Research Archive (ORA) (University of Oxford) (submittedVersion, cc-by-nc)
Funders
Wellcome Trust (082498/Z/07/Z, 082498)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
autism spectrum disorder, specific language impairment, comorbidities, shared etiology, epistasis, gene-gene interaction, pleiotropy
MeSH terms
Autistic Disorder, Epistasis, Genetic, Humans, Language Disorders, Models, Theoretical, Software, Comorbidity

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