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Abstract
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There have been tremendous advances in neuroscience and modern technology in revealing the genomic basis of intellectual disability. Numerous studies have supported the association between highly penetrant genetic variants and intellectual disability,suggesting great need to include use of exome and genome sequencing in the care and clinical practice relating to people with intellectual disability.
However, outcomes or clinical prognosis of individuals who are diagnosed with intellectual disability and pathogenic genetic abnormality have not been investigated systematically. Additionally, even though genetic contribution in intellectual disability is important, the extent to which environmental factors could shape the outcomes is unknown. To fill this knowledge gap, in The Lancet Psychiatry, Jeanne Wolstencroft and colleagues addressed several important questions regarding: the risk for neuropsychiatric disorders and behavioural difficulties in people with intellectual disability and genetic diagnosis; the contribution of the inheritance of genomic variants (familial or de novo) to the risk of neuropsychiatric disorders and behavioural difficulties; and the contribution of socioeconomic deprivation to outcomes and prognosis of people with intellectual disability and genetic diagnosis. Wolstencroft and colleagues have recruited a national UK cohort (IMAGINE) to collect the largest dataset so far of people with intellectual disability and pathogenic genetic abnormalities, including individuals with a copy number variant (CNV) and a single nucleotide variant (SNV), identified through the UK National Health Service (NHS). Additionally, the authors compared their findings with the equivalent neuropsychiatric and socioeconomic data from a national population survey to explore the individual effect of pathogenic genetic variants on mental health of people with intellectual disability...
Language: en |