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

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.

The Development and Validation of the Comprehensive Assessment of Acceptance and Commitment Therapy Processes (CompACT)-Malay Version.

OBJECTIVES: psychological flexibility is a crucial construct highly correlated with psychological wellness. There is a need for a tool to measure psychological flexibility in order to accurately ascertain the effects of treatment. The existing industry standard, the Acceptance and Action Questionnaire-II (AAQ-II), has issues with conflating psychological flexibility with distress; moreover, it does not cover the hexaflexes. The 23-item CompACT was designed to surmount these limitations. METHODS: the classical test theory (CTT) and Rasch measurement theory (RMT) were used to check the validity and reliability of the Malay version of the CompACT Scale. Cronbach's α, McDonald's Ω, and greatest lower bound were used to measure internal consistency. A Pearson's correlation test was used to measure test-retest reliability of the Malay versus the original English version. For validity, convergent validity was established by using the Malay AAQ-7 Scale. The dimensionality of the Malay version of the CompACT Scale was explored using exploratory factor analysis. For the RMT, weighted fit statistics (infit) and outlier sensitive fit statistic (outfit) mean square (MnSq) values were used at the item level, while item and person separation reliability values and item and person separation indices were applied at the scale level. RESULTS: the internal consistency measures, including Cronbach α and McDonald's Ω, passed the suggested cutoff points. Convergent validity with the AAQ-II was 0.693. The quality of the Malay version of the CompACT Scale was also satisfactory, as all item and person reliability values and indices exceeded the suggested cut-off points. CONCLUSIONS: the Malay CompACT is a psychometrically sound instrument to assess psychological flexibility in both clinical and research settings.