New study identifies rare chromosomal aberrations in children with autism and variety of disabilities|
DUBLIN, Ireland: Scientists may be better able to diagnose and design therapies for a range of intellectual disabilities, including some cases of autism, thanks to pioneering research involving Trinity College, Dublin.
Working with researchers in the United States and Europe, the Trinity College research group has identified rare chromosomal aberrations which are associated with a variety of developmental disorders in children.
The study's findings, which involved Dr Louise Gallagher, senior lecturer in psychiatry, and Dr Michael Gill, professor of psychiatry at Trinity College, have just been published in the internationally renowned New England Journal of Medicine.
More than 5,200 patients, were involved in the study and were screened for sub-microscopic chromosomal mutations. In about 34 cases, researchers identified similar "mutations" in a particular chromosome, one of 23 pairs that carry genetic information in humans. The affected individuals had highly variable clinical features, including mild or moderate intellectual disability, growth retardation, learning disabilities, seizures, autism, heart defects and cataracts.
Dr Gallagher said the importance of the work was that it could, in future, help scientists to identify the genes that may be involved in these disorders.
"That helps in understanding the condition and in the longer term it might help us identify the particular mechanism we can target for therapies. There is great hope in the autism community that these aberrations may help us to understand more about the biology of the condition and perhaps in the future to assist in the development of diagnostic tests and treatments."
(Source: Irish Independent, September 26, 2008)