What is KCNQ2 syndrome?
KCNQ2 syndrome is a rare genetic disorder caused by changes (mutations) in the KCNQ2 gene. This gene is important for the function of potassium channels in the brain, which control the electrical activity of nerve cells.
Children with KCNQ2 syndrome usually show epileptic seizures in the first few days of life. Developmental delay, mental retardation, muscle hypotonia (low muscle tone) and motor and speech difficulties are common. In some cases, there are also problems with swallowing and feeding.
Aids that are frequently used for KCNQ2 syndrome:
Aids and support for everyday life
Specialized aids for children with KCNQ2 syndrome are of great importance to ensure safety and promote motor uprightness:
- Safety during seizures: As epilepsy often dominates everyday life, epilepsy sensor mats for night-time monitoring and protective helmets for daytime use (in case of risk of falling) provide important safety.
- Positioning & stability: Due to the pronounced muscle hypotonia, individually adapted therapy chairs or seat shell bases are essential. They support the trunk and enable a stable position when eating and playing.
- Mobility aids: Specialized rehab buggies with a reclining function and pads support correct posture and enable participation in social life.
- Support with food intake: Special drinking and eating aids or mobile suction devices (for swallowing disorders) can make daily feeding easier and safer.
- Augmentative and Alternative Communication (AAC): As spoken language is often severely delayed, signs, symbols or speech computers(talkers) help to give the child opportunities for expression.
Learn more
You can find more helpful information about KCNQ2 syndrome here:
kcnq2.de/ueber-kcnq2/