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

Abstract

BackgroundThe 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. AimsThis e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically presenting sample of adults diagnosed with ASD by specialist services. MethodIndividuals 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. ResultsOf 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. ConclusionsThis 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 interestNone.

Measuring Depression in Autistic Adults: Psychometric Validation of the Beck Depression Inventory–II

“…The BDI-II has been utilized extensively over the past two decades, with many studies demonstrating sound psychometric properties and strong diagnostic performance in psychiatric, medical, and general population samples (for a review, see Wang & Gorenstein, 2013). This measure is also one of the most frequently used in studies of autistic adults (Burns et al, 2019; Cederlund et al, 2010; Crane et al, 2013; Gotham et al, 2014; Gotham et al, 2018; Han et al, 2019; Hill et al, 2004; Hillier et al, 2011; Limoges et al, 2005; Russell et al, 2017; Underwood et al, 2019; Unruh et al, 2020). Items on the BDI-II align well with the major depressive disorder criteria in the Diagnostic and Statistical Manual of Mental Disorders–Fifth edition ( DSM-5 ), and a recent study found that the BDI-II has the largest amount of symptom overlap with six other common depression questionnaires (Fried, 2017).…”

Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression

“…Volunteers were recruited from the National Centre for Mental Health (NCMH; https://www.ncmh.info/) research cohort, a Welsh Government-funded Biomedical Research Centre, operated by Cardiff, Swansea and Bangor Universities, in partnership with National Health Service (NHS) Health Boards across Wales (31). NCMH collects biological samples, clinical data, and socioeconomic information from people across the lifespan with a history of neurodevelopmental, psychiatric, and neurodegenerative disorders and also from healthy control participants.…”

Autism and Migraine: An Unexplored Association?

“…Moreover, authors demonstrated an increased reported rate of migraine: 42.7% of individuals with ASD reported a lifetime history of migraine compared to 20.5% of controls ( p = 0.012). There was also a higher rate of epilepsy and seizures compared to controls and an association between migraine and epilepsy was confirmed ( p = 0.028) [ 21 ].…”