Article title
Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., De Klerk, N., Christodoulou, J., Msall, M., & Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88, 38-43. Download snapshot, see article abstract.
Background
Rett syndrome was first recognised by Dr. Andreas Rett in 1966 and first published in the English literature in 1983. Although there are a set of symptoms that are required for a child to be diagnosed with Rett syndrome, there is variability in the expression of symptoms. We wanted to describe this range of expression of symptoms in girls and women with Rett syndrome.
What we did
We used information provided by families to the Australian Rett Syndrome Database to categorise the girls and women according to whether they had classical or atypical Rett syndrome. We then used four different scales to look at the functioning of the girls and women. One of the scales we used was the WeeFIM. This is a functional independence measure for children developed by Dr Michael Msall, from the USA, who has been working with us since 1997. The WeeFIM measures ability in moving around, self-care, thinking and communicating. We compared the scores of those in different groups to describe the features of each group.
What we found
Over half of the girls had classical Rett syndrome whilst around one-fifth were mildly affected and around a quarter appeared to be more severely affected with earlier onset of symptoms. Overall, a MECP2mutation was found in 96 (72%) of the girls: in 80% of the mild, 73% of classical and 62% of the more severe form of Rett syndrome.
Most of the girls and women were more severely affected in the areas included in the diagnostic criteria such as speech, mobility and hand stereotypies. We also found that older girls and women were more likely to suffer from poor growth, epilepsy, scoliosis and circulation problems. As girls get older they are less likely to walk. Stereotypies are maintained throughout childhood but are slightly less prevalent in young women as are involuntary movements.
Nearly two-thirds of the girls and women had learned some form of non-verbal communication. We found that there was little difference between the abilities and severity of symptoms for those who had aMECP2 mutation compared to those without.
What does it mean
This study describes the range of the expression of symptoms in girls and women with Rett syndrome. This information can help clinicians better identify and diagnose those with Rett syndrome.