The first comprehensive analysis from the InterRett database of over 1,200 people with Rett syndrome was undertaken by an international collaboration headed by the Telethon Institute for Child Health Research.
The results were published in the March 2008 edition of the international journal Neurology. The InterRett database project is funded by the International Rett Syndrome Foundation.
Report co-author, Dr Helen Leonard, said the findings have revealed a wide variability in the effects of the syndrome. “This is the first time that we’ve had quality information about a sufficient number of cases to be able to do a rigorous analysis comparing specific genetic mutations with they way the disorder is manifested in affected girls,” Dr Leonard said
"While Rett syndrome is caused by a mutation on the MECP2 gene on the X chromosome, variations in the mutation determine the severity of symptoms. Our analysis of eight common mutations that account for two-thirds of cases, showed considerable variation in abilities”
Dr Leonard said the information would be of great value to families, clinicians and carers. "Many parents have found the lack of information about their daughter’s prognosis very distressing and will welcome a clearer indication of what they might expect in the future,” Dr Leonard said.
"Our findings really emphasized how much variability there is in the syndrome and we hope that information will assist with earlier diagnosis.” Dr Leonard said that girls with the milder form of Rett syndrome may retain some language, hand function and the ability to walk. In contrast, those with the severe form don’t show the usual pattern of regression but are affected from birth.
InterRett is managed by:
The Australian Rett Syndrome Study
Telethon Institute for Child Health Research
PO Box 855
WEST PERTH 6872 AUSTRALIA
Tel: +61 (8) 9489 779
Fax: +61 (8) 9489 7700
Mobile: +61 419 956 946
Source: Press Release from Telethon Institute for Child Health Research, 11 March 2008