Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
Citations Over TimeTop 10% of 2018 papers
Abstract
Background Copy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised. Aims To determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders. Method A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites. Results The yield of pathogenic CNVs was high – 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P <0.0001), schizophrenia (3.1%, P <0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations. Conclusions In the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry. Declaration of interest None.
Related Papers
- → De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder(2019)47 cited
- → Genetic and Neurodevelopmental Influences in Autistic Disorder(2003)60 cited
- → The contribution of 7q33 copy number variations for intellectual disability(2017)4 cited
- → Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability(2016)2 cited
- Comorbid Rate of Other Neurodevelopmental Disorder with Autism Spectrum Disorder in a Total Population Sample of 5-Years-Old Children.(2019)