Detecting Rett Syndrome

Monday, 21 May, 2001

Video clips are to be used to detect early symptoms of the genetic disorder Rett syndrome in a bid by Edinburgh and Glasgow Universities to detect the rare but disabling ailment at an early stage of childhood.

Researchers and health professionals dealing with babies and young children are scrutinising home videos and cine films donated by parents of affected daughters to spot early warning signs of the disorder.

It is hoped to identify affected girls at an early stage, intervene with help, and support during the second year of life when Rett syndrome girls regress and lose skills acquired earlier.

Edinburgh's Dr Bronwen Burford and Glasgow's Dr Alison Kerr are collaborating in the research project. They are using a software program developed by Dr Hamish Macleod that enables health professionals to view home videos and press a button to indicate anything suspicious in a baby's behaviour that might indicate the Rett ailment. The syndrome is due to a mutation that occurs in a gene called MECP2 that is essential for development of the brain. When a girl affected with Rett syndrome is born she appears uncomplaining, placid and smiles a great deal. During the second year of life the child regresses, becomes agitated and begins displaying signs of profound physical and mental disability. Rett children may go on to live a full life span but are without speech and have severe mood and movement disorders. The disability becomes more noticeable during the second year when posture and behaviour deteriorate.

For further information please contact Dr Bronwen Burford, Edinburgh University, Research Development Centre, Faculty of Education, via phone: +44 131 651 6233 or fax: +44 131 650 2253.

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