What is ADNP syndrome?
ADNP syndrome (also known as Helsmoortel-Van der Aa syndrome) is a rare genetic disorder caused by changes in the ADNP gene. This gene plays an important role in the development of the brain and the regulation of many other genes.
Children with ADNP syndrome usually show severe developmental delay, autism spectrum symptoms, pronounced speech disorders and intellectual impairment. Hypotonia (low muscle tone), sleep disorders, cardiac or gastrointestinal problems and typical facial features are also common.
The progression is not progressive, but the symptoms are permanent and require intensive support, therapies and often aids to support everyday life.
Aids that are frequently used for ADNP syndrome:
Aids and support for everyday life
As seizures in Dravet syndrome often occur unpredictably and violently, aids for prevention and safety play a crucial role:
- Temperature management: cooling vests or cooling caps can help to keep the body temperature stable during heat or physical activity and thus increase the seizure threshold. An accurate clinical thermometer is essential when traveling.
- Safety & protection: Due to the risk of falling during seizures, individually adapted safety helmets are often a permanent companion. Epilepsy monitors (mat sensors or wearables) provide safety at night so that a seizure can be noticed immediately.
- Light protection: Special sunglasses with polarizing filters or edge filters can help to reduce exposure to flickering sunlight.
- Mobility aids: If gait is unsteady, rehab buggies or wheelchairs provide safety and allow the child to take breaks to avoid overheating from exertion.
- Safe sleeping: Specialized care beds with high, softly padded side walls protect the child from injury during a night-time seizure.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net