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 in everyday life
As the SCN2A mutation affects both motor skills and safety in everyday life, targeted aids can significantly improve the quality of life of the child and the family:
- Epilepsy safety: if your child suffers from seizures, safety helmets for daytime use and special epilepsy sensor mats (or wearables) for nighttime use provide important protection against injury.
- Mobility aids: In the event of unsteady gait or hypotonia, individually adapted rehab buggies or wheelchairs provide support. They provide the child with the necessary stability for outings and take the strain out of everyday life.
- Augmentative and Alternative Communication (AAC): If spoken language is limited, electronic communication aids(talkers) or symbol-based apps help to break down barriers and give the child a voice.
- Sensory relief: In the case of autistic behavior or sensory overload, weighted blankets or special retreats (e.g. darkened play tents) can help to calm the nervous system.
- Stability when seated: A specialized therapy chair supports correct posture when eating or playing, especially if the trunk muscles are weak.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net