These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Predictors of seizure onset in Rett syndrome. The Journal of Pediatrics. 2006;149(4):542-7. Download snapshot.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.
What we did
Information was collected between 2000 and 2004 from 275 families participating in the Australian Rett Syndrome Study. We examined the relationships between the age when seizures started and factors such as type of genetic mutation, birth head circumference, early developmental problems, mobility and age at loss of hand and communication skills.
What we found
The girls and women in this study were aged 2 - 29 years and just over 80% were reported to have seizures. Overall, the average age when seizures first developed was 48 months. However those in whom a MECP2 mutation had been identified developed seizures later than those without a MECP2 mutation.
Those who had never learned to walk or had other developmental issues during infancy were significantly more likely to develop seizures. Girls with a p.R168X, p.R294X, or C-terminal mutation were less likely to have a seizure within the first 4 years of life, compared to those without a MECP2 mutation. However, after 4 years of age, the risk increased for those with a p.R168X mutation. Similarly, skewed X-inactivation was associated with a reduced the risk of seizures within the first 4 years of life.
What does it mean
The onset of seizures occurred most commonly around the age of four years. We identified some relationships with early development and with genetic factors. This information helps us to understand the usual course of seizure development in Rett syndrome.
For further reports and findings, see our publications list.