Children with rare genetic disorders more likely to be diagnosed with developmental, behavioral and mental health problems, study finds

A major study of children with intellectual disabilities has highlighted the additional challenges that they often face, including a much-increased likelihood of being diagnosed as autistic, as well as Attention Deficit Hyperactivity Disorder (ADHD) and other mental health difficulties.

With the advent of rapid whole genome sequencing, children presenting with an intellectual disability or developmental delay are recommended to have their DNA sequenced to identify the underlying genetic cause.

To capitalise on this recent NHS development, researchers at the University of Cambridge, University College London and Cardiff University established IMAGINE ID (https://imagine-id.org/), a national UK cohort study that aims to discover how genetic changes affect children and young people’s behaviour, in order to inform better care of families and children now and in the future.

Writing in The Lancet Psychiatry today, the researchers have published the results of an analysis of data from almost 2,800 young people with rare genomic variants — changes to their DNA — that are associated with intellectual disability.

Professor Lucy Raymond from the University of Cambridge, the study’s senior author, said: “Thanks to all the families that have taken part in our research, we’ve been able to conduct the largest study to date of the impact of rare genetic variants associated with intellectual disability. What we’ve found from parents is that these children are extremely likely to develop other neurodevelopmental or mental health conditions, which can present additional challenges both to the children and their families.”

All the participants were aged between four and 19 years. Just under three-quarters (74%) had an intellectual disability caused by a duplication or deletion of sections of DNA — a so-called copy number variant (CNV). The remaining young people had a disability caused by a single ‘spelling error’ in their DNA — a change in the A, C, G or T nucleotides — referred to as a single nucleotide variant (SNV).

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