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23 June 2014
University scientists are set to examine an untapped source of genetic information in a bid to better understand and treat children with intellectual disability.
Experts from the University’s Neuroscience and Mental Health Research Institute will be given unprecedented access to genetic information on Intellectual Disability from Regional Genetics Centres across the UK as part of a first phase of a major new study funded by the Medical Research Council (MRC) and Medical Research Foundation (MRF).
"There are an estimated 1.5M people with intellectual disabilities in the UK and a significant proportion of them children under 18 years of age" according to Professor Jeremy Hall from the University’s MRC Centre for Neuropsychiatric Genetics & Genomics and Neuroscience and Mental Health Research Institute.
"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," he added.
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 information is picked up by the NHS by a simple genetic test and captured. This vital information is so far an untapped resource to exploit to better understand and treat Intellectual Disability," said Dr van den Bree from the University’s Institute of Psychological Medicine and Clinical Neurosciences.
"Using the genetic information, 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.
Professor Hall adds: "When a CNV is found in a child with Intellectual Disability, 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.
"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.
Director of the University’s MRC Centre for Neuropsychiatric Genetics & Genomics Professor Mike Owen added: "Cardiff has a long record of research and expertise in learning disabilities through hosting the Welsh Centre for Learning Disabilities and this is brought together in this study with expertise in genetics through MRC CNGG and neuroscience expertise through NMHRI.
"It’s hard to think of anywhere else with this unique combination of skills and we are delighted to see this being brought to bear on such an important clinical problem."
The Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE) is funded by the Medical Research Council (MRC).
Neuroscience and Mental Health Research Institute
MRC Centre for Neuropsychiatric Genetics & Genomics
Medical Research Council (MRC)
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