A pre-clinical study of a treatment for Rett syndrome has produced encouraging results, and it is hoped that this will lead to further research. The full story can be read here, at Health News and Information.
Dr Manel Esteller, a researcher and professor at the University of Barcelona who was involved with the study, says,
“Our findings provide a new way of improving the quality of life of these patients.”
Rett syndrome is a genetic disorder that causes mental and physical disability. It is thought to affect approximately 1 in every 12,000 girls born each year and is the second most common cause of female intellectual disability. It can also occur in males, although that is more unusual. The condition is caused by a variation of the MECP2 gene. The genetic variation prevents the gene from producing a functioning form of the protein that it codes for, which is involved in brain development.
People who are affected usually experience a slowing down of their development, followed by deterioration. Many will require 24-hour care. There is not a cure for the condition at the moment, and treatment is aimed at controlling the symptoms and may include physiotherapy, speech and language therapy, occupational therapy, back and/or lower leg braces to support movement, and beta-blockers and pacemakers for heart conditions, amongst others.