Abstract
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs—including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1—providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.
Highlights
Intellectual disability (ID) is a complex and multifactorial disorder that includes both intellectual and adaptive functioning deficits in the conceptual, social and practical domains with onset during the developmental period
The main purpose of this study is to investigate the contribution of putative pathogenic copy number variants (CNVs) among patients with ID and comorbid psychiatric/behavioural disorders
A patient cohort of 100 adults affected by ID and co-morbid psychiatric/behavioural disorders without a genetic diagnosis was recruited with the main purpose of identifying CNVs responsible for their conditions
Summary
Intellectual disability (ID) is a complex and multifactorial disorder that includes both intellectual and adaptive functioning deficits in the conceptual, social and practical domains with onset during the developmental period. This disorder affects approximately 1–3% of the general population, and between 10 and 40% of people with ID present with mental illness or behavioural disorders (Cooper et al 2007; Lowe et al 2007; Morgan et al 2008). The diagnosis of a psychiatric disorder in subjects with ID can be difficult, and most symptoms tend to be attributed to the ID For this reason, the co-occurrence of both entities is usually overlooked (Costello and Bouras 2006)
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