Article title
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. European Journal of Paediatric Neurology. 2007;11(5):310-7. Download snapshot, see article abstract
Background
About 80% of girls with Rett syndrome have seizures, which can impact greatly on the lives of girls with Rett syndrome and their families. Little is known abut the frequency of seizures, how they relate to genetic characteristics and how they respond to medications.
What we did
We collected information on a monthly basis on the patterns of seizures and medications being used by 162 girls in the Australian Rett Syndrome study over a calendar year. In combination with information provided by questionnaire, this allowed us to compare the seizure rates by age, mutation type, type of medication and other characteristics such as walking ability.
What we found
The majority of girls and women in this study had been diagnosed with epilepsy (85.2%). Of those with epilepsy, nearly 90% had been prescribed anti-epileptic medication. The most common of these were sodium valproate (used by 57%), lamotrigine (used by 44%) and carbamazepine (used by 41%).
We found that seizures occurred most frequently in girls aged 7-12 years old and girls that had atypical Rett syndrome. On the other hands, girls with a p.R294X, p.R255X or C-terminal deletion mutation had fewer seizures. Girls who had early developmental problems or had more severe symptoms tended to have more seizures. Likewise, girls who were less mobile or had fewer functional skills also experienced more seizures.
What does it mean
Similar to other studies that describe seizures as "winding down" with age, we found that seizures occurred less often in older girls than in those aged between 7-12 years of age. We confirmed that seizure frequency in Rett syndrome varies according to age and is increased in those with more severe early developmental problems and influenced by mutation type.
What next
It will be important for future studies to look at the effectiveness of different types of epilepsy medications in Rett syndrome.