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
Hypophosphatasia (HPP) is often associated with reduced bone stability, muscle weakness and pain. Individually adapted aids support everyday life and relieve the child and the family:
Stability & positioning: seating shells, positioning systems or orthoses help to stabilize the body and prevent incorrect weight-bearing.
Mobility aids: Depending on the load capacity, rehab buggies, wheelchairs or walking aids help to save strength and remain safely mobile.
Protection & relief: Adapted aids help to reduce pain and avoid strain in everyday life.
Therapy & support: Gentle therapeutic aids support mobility without putting additional strain on the bones.
Everyday life & safety: If there is an increased risk of fractures, stabilizing aids and adapted environments can ensure greater safety.
Sleep & relief: Adapted beds and positioning systems can relieve the body and contribute to more rest during sleep.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net