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Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort

  • Jack F. G. Underwood (a1), Kimberley M. Kendall (a2), Jennifer Berrett (a3), Catrin Lewis (a4), Richard Anney (a5), Marianne B. M. van den Bree (a6) and Jeremy Hall (a7)...

Abstract

Background

The past decade has seen the development of services for adults presenting with symptoms of autism spectrum disorder (ASD) in the UK. Compared with children, little is known about the phenotypic and genetic characteristics of these patients.

Aims

This e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically presenting sample of adults diagnosed with ASD by specialist services.

Method

Individuals diagnosed with ASD as adults were recruited by the National Centre for Mental Health and completed self-report questionnaires, interviews and provided DNA; 105 eligible individuals were matched to 76 healthy controls. We investigated demographics, social history and comorbid psychiatric and physical disorders. Samples were genotyped, copy number variants (CNVs) were called and polygenic risk scores were calculated.

Results

Of individuals with ASD, 89.5% had at least one comorbid psychiatric diagnosis, with depression (62.9%) and anxiety (55.2%) being the most common. The ASD group experienced more neurological comorbidities than controls, particularly migraine headache. They were less likely to have married or be in work, and had more alcohol-related problems. There was a significantly higher load of autism common genetic variants in the adult ASD group compared with controls, but there was no difference in the rate of rare CNVs.

Conclusions

This study provides important information about psychiatric comorbidity in adult ASD, which may inform clinical practice and patient counselling. It also suggests that the polygenic load of common ASD-associated variants may be important in conferring risk within the non-intellectually disabled population of adults with ASD.

Declaration of interest

None.

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Copyright

This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.

Corresponding author

Correspondence: Dr Jack F. G. Underwood, Neuroscience & Mental Health Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK. Email: underwoodj4@cardiff.ac.uk

References

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Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort

  • Jack F. G. Underwood (a1), Kimberley M. Kendall (a2), Jennifer Berrett (a3), Catrin Lewis (a4), Richard Anney (a5), Marianne B. M. van den Bree (a6) and Jeremy Hall (a7)...

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Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort

  • Jack F. G. Underwood (a1), Kimberley M. Kendall (a2), Jennifer Berrett (a3), Catrin Lewis (a4), Richard Anney (a5), Marianne B. M. van den Bree (a6) and Jeremy Hall (a7)...
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