Could genetics help explain intellectual disability in children?

June 23, 2014, Cardiff University

Teams of leading UK scientists have joined forces to unlock an untapped source of genetic information in a bid to better understand and treat children with Intellectual Disability. Experts from Cambridge, Cardiff, and UCL (University College London) will be given unprecedented access to genetic information on intellectual disability from NHS Regional Genetics Centres across the UK as part of a first phase study funded by the Medical Research Council (MRC) and Medical Research Foundation (MRF).

The main objective of the research, led by Professor David Skuse of the UCL Institute of Child Health, is to gain a better understanding of why the genetic anomalies that cause learning disabilities lead to behavioural problems in childhood and a heightened risk of later-developing psychiatric disorders in adolescence and adulthood.

Its main objective is to recruit over 10,000 participants, creating a resource of unparalleled size and detail on the associations between specific genetic risk factors, learning disability, and behaviour.

"There are an estimated 1.5M people with Intellectual Disabilities in the UK and a significant number of them are under 18 years of age," according to Professor Jeremy Hall from Cardiff University's Neuroscience and Mental Health Research Institute and MRC Centre for Neuropsychiatric Genetics & Genomics.

"Whilst we know intellectual disability can be caused by events such as extreme premature birth, birth injury or brain infections, research has found that minor chromosomal anomalies - known as copy number variations (CNV) - are strongly associated with children with an Intellectual Disability." Intellectual Disability - or more commonly known as learning disabilities - usually appears before adulthood. The signs and symptoms are mainly behavioral, with children experiencing difficulties in learning to talk, memory and learning key social skills.

"This vital information is picked up by the NHS by a simple genetic test however, until now, has been an untapped source of information," said Dr van den Bree from Cardiff University's Institute of Psychological Medicine and Clinical Neurosciences.

"Using the , the team will recruit some 10,000 families. Focusing on behavioural adjustments in early to middle childhood, they will examine and report behaviour and ability using behavioural adjustments, social circumstances and medical history," she added.

Dr Lucy Raymond, Reader in Neurogenetics from the Cambridge Institute for Medical Research at the University of Cambridge, who will lead the genetic investigations, points out that when a CNV is found in a child with , families deserve to be told what the future holds for their child, and how they should best manage behavioural and educational issues to avert poor mental outcomes. Currently, that information is not usually available.

Dr Raymond adds: "Our research aims to rectify this current unacceptable situation by creating comprehensive genetic knowledge linked with detailed information about adjustment in childhood that will be accessible to clinicians managing children with an Intellectual Disability."

However, it's not just children that the research will use this information to help support.

The second phase of the research will examine the relatively high risk of serious mental illness in adulthood of children diagnosed with intellectual Disability.

The Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE) is funded by the Medical Research Council (MRC).

The IMAGINE study is supported by key charities who help families with children with Intellectual Disability.

"Many of the families who have children with rare chromosome abnormalities come to us for help, support and advice. They tell us that there is a real gap in knowledge on the long term consequences of these genomic disorders on mental health," according to Beverly Searle, Chief Executive Officer of the Charity, Unique.

"There is an increasing need to have a coordinated and systematic study to address this issue and ultimately new interventions to help children with Intellectual Disability and their families.

"That's why we have given our firm commitment to this key piece of research which will hopefully provide us with some much needed knowledge to help those families looking for answers about their children and risk in later life," she added.

Explore further: Two new genes linked to intellectual disability

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