Children with rare genetic conditions love more

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

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

To capitalize on this recent NHS development, researchers from the University of Cambridge, University College London and Cardiff University created IMAGINE ID, a UK national cohort study which aims to uncover how genetic changes affect the behavior of children and young people, to inform better care. families and children of today and tomorrow.

write in The Lancet Psychiatry Today, researchers published the results of an analysis of data from nearly 2,800 young people with rare genomic variants – changes to their DNA – associated with intellectual disability.

Professor Lucy Raymond from the University of Cambridge, lead author of the study, said: “Thanks to all the families who took part in our research, we were able to carry out the largest study to date into the impact of rare genetic variants associated with intellectual disability What we have found with parents is that these children are extremely susceptible to developing other neurodevelopmental or mental health issues, which can present additional challenges to times for children and their families.

All participants were between the ages of four and 19. Just under three-quarters (74%) had an intellectual disability caused by duplication or deletion of sections of DNA – a so-called copy number variant (CNV). The remaining youngsters had a disability caused by a single ‘misspelling’ in their DNA – a change in the A, C, G or T nucleotides – called a single nucleotide variant (SNV).

Compared to the English national population, the children in the study were almost 30 times more likely to have been diagnosed with autism. In the general population, 1.2% of people are diagnosed with the disease, compared to 36% of study participants. Similarly, 22% of the study population were diagnosed with ADHD, compared to 1.6% of the general population, meaning they were more than 13 times more likely to have the condition.

About one in eight children (12%) had been diagnosed with oppositional defiant disorder, in which children are uncooperative, defiant and hostile towards others – a rate 4.4 times higher than in the general population.

One in ten people (11%) suffered from an anxiety disorder, a risk 1.5 times higher. Rates of childhood depression were significantly lower, at just 0.4% compared to 2.1% for the general population, but this may increase over the next few years as some mental health disorders only start in later life. adolescence or early adulthood. Almost all of the children (94%) had at least one significant physical health problem, including trouble sleeping (65%), motor or movement problems (64%), or seizures (30%).

Dr Jeanne Wolstencroft of the Great Ormond Street Institute of Child Health, University College London, said: ‘Routine genomic testing is now enabling parents to understand the genetic cause of intellectual disabilities in a growing number of children, but, as good many of these conditions are rare, we still lack information on the impact this has on the future mental health of their children.

“We already know that intellectual disabilities tend to be associated with an increased likelihood of neurodevelopmental disorders, as well as emotional and behavioral difficulties, but we have found that when there is an identifiable genetic cause, the likelihood is greatly amplified. This suggests that these children should benefit from early assessment and help when needed.

The team also showed for the first time that children with intellectual disability caused by a genetic variant inherited from a family member are more likely to come from a lower socio-economic background. This suggests that some parents or family members with the same variant may also have unrecognized difficulties that put them at a social and educational disadvantage. These children were more likely to be diagnosed with a neuropsychiatric disorder and were also more likely to exhibit behavioral difficulties.

Professor David Skuse of the Great Ormond Street Institute of Child Health, University College London, said: “We hope this work will help improve the targeting of assessments and interventions to support families as early as possible. We would like to see better training for health care providers on the broader use and usefulness of genetic testing. We have identified its potential value in terms of prioritizing children with mental health needs for children’s mental health services, which are currently extremely limited in the UK.

The research was funded by the Medical Research Council (part of UK Research & Innovation) and the Medical Research Foundation. Additional support was provided by the NIHR Cambridge Biomedical Resource Center and the NIHR GOSH BRC.

Wolstencroft, J et al. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE – The UK National Cohort Study. Lancet Psychiatry; August 4, 2022; DOI: 10.1016/PIIS2215-0366(22)00207-3

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