4 April 2011
Families of children with severe learning disabilities are often left without a diagnosis of what caused their child’s condition. Now a new study is taking place in Manchester, funded by West Sussex-based children’s charity Action Medical Research, to help give these parents the answers they need.
The more that is known about the exact nature of a child’s learning disability, about what is causing their problems, the easier it is to give them the specialist care they need – the right sort of medication, physiotherapy or help to develop ways in which they can communicate and gain a degree of independence in their daily living.
However, diagnosis is often extremely difficult. A range of genetic tests are available, but choosing the correct one is hard. Testing is complex, time consuming, expensive and burdensome – many children have to have repeated blood tests, along with other investigations, such as MRI scans and lumbar punctures. Even then, results can be unsatisfactory and too many children are going undiagnosed.
The project leader is Professor Jill Clayton-Smith, from the Department of Genetic Medicine, St Mary’s Hospital, University of Manchester. Professor Clayton-Smith is a hospital consultant specialising in genetics. She has over 20 years’ experience of caring for people with severe learning disabilities and is recognised as a leader in this area.
She is working with fellow researchers Dr Simon Ramsden and Dr Jill Urquhart. The researchers have been caring for children with severe learning disabilities for over 20 years. Both existing and new patients are taking part in this study, all of whom have an undiagnosed disability.
The researchers are looking for genetic changes that cause the children’s learning disabilities. In most cases, the researchers are using samples of DNA that have already been collected and stored. When these are not available, they are taking blood samples from patients and their parents.
Professor Clayton-Smith said: “We are aiming to develop new genetic tests, along with guidelines on how to incorporate them into the diagnostic process. We hope our work will mean that more children can receive a quicker and more accurate diagnosis, with a clearer explanation of what is causing their disability.
“Surveys have shown that having a diagnosis is very important to families. It improves the quality of genetic counselling that families receive - helping answer parents’ questions about why their child has got a learning disability and whether any children they, or their relatives, might have in the future are at risk. It can also relieve parents’ feelings of guilt,” she added.
Alexandra Dedman, Senior Research Evaluation Manager for Action Medical Research, said: “We are delighted to fund this important study which could help to improve the lives of disabled children and their families. An accurate diagnosis makes it easier to ensure that a child receives the best possible care for them.
“It guides doctors and therapists in their choice of treatments and provides information that empowers patients and carers when they are trying to access support. Further down the line, the researchers hope their work will help in the development of better treatments.”
NOTES TO EDITORS:
For further information please contact:
Claudine Powell, Communications Manager
T: 01403 327478
Action Medical Research is the leading UK-wide medical research charity dedicated to helping babies and children. We know that medical research can save and change children’s lives. For nearly 60 years we have been instrumental in significant medical breakthroughs, including the development of the UK polio vaccine and ultrasound scanning in pregnancy.
Today, we continue to find and fund the very best medical research to help stop the suffering of babies and children caused by disease and disability. We want to make a difference in:
•tackling premature birth and treating sick and vulnerable babies
•helping children affected by disability, disabling conditions and infections
•targeting rare diseases that together severely affect many forgotten children.