What is CDKL5?
CDKL5 is a very rare genetic disorder caused by a mutation in the CDKL5 gene on the X chromosome. This gene normally provides the building instructions for a protein that is crucial for the development and function of the brain.
The disease usually becomes noticeable in the first few months of life - often through difficult-to-treat epileptic seizures. As the disease progresses, the children show a clear developmental delay: many are unable to sit, walk, speak or eat independently.
In addition to epilepsy, there are often other accompanying symptoms, including muscle and movement restrictions, scoliosis, sleep problems, visual disturbances and gastrointestinal complaints.
As CDKL5 is an orphan disease, research is still in its infancy. Therapies are currently aimed primarily at alleviating the seizures and improving the quality of life of the children and their families.
Aids that are frequently used with CDKL5:
Aids and support for everyday life
As CDKL5 patients often require very comprehensive support, tailored aids play a key role in their quality of life:
- Safety during seizures: As seizures often occur unpredictably, safety helmets for daytime and specialized epilepsy sensor mats for nighttime provide essential protection against injury.
- Stability & positioning: Individually shaped seat shells in special designs in therapy chairs or on chassis are essential to support the trunk, relieve the spine and slow down the deterioration of scoliosis.
- Mobility:Rehab buggies or wheelchairs with special headrests and pads allow the child to participate in social life. For children with residual mobility, standing trainers can be important to promote bone density.
- Augmentative and Alternative Communication (AAC): As verbal communication is often not possible, eye control systems, buttons or symbol boards help the child to communicate their needs.
- Positioning aids: Special positioning pillows or bed systems help to keep the body stable at night and alleviate the often agonizing reflux by elevating the upper body slightly.
Learn more
You can find more helpful information about CDKL5 here:
www.cdkl5-verein.de