Rett, Rett-syndroom
The rare Rett syndrome is caused by a mutation in the genetic material of the X chromosome and primarily affects girls.
In the first few months after birth, these children show no noticeable signs. At some point, they stop using their hands and lose the skills they had already learned. Most children with Rett syndrome do not learn to speak and exhibit characteristic breathing patterns, including periods of hyperventilation and breath-holding.
Most children with Rett syndrome have epilepsy. These children often experience absences (short periods of being unresponsive), where they become stiff. Occasionally, tonic-clonic seizures also occur. The seizures typically begin when the child is between 1 and 2 years old.
At a specialized epilepsy center such as Kempenhaeghe, there is particular expertise and experience in helping children with (suspected) Rett syndrome.
For more information, visit www.epilepsievereniging.nl, www.epilepsie.nl, and www.kinderneurologie.eu.