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
SPG50 is a rare form of hereditary spastic paraplegia that is often associated with increasing muscle stiffness (spasticity), movement disorders and developmental delays. Individually adapted aids support mobility and everyday life:
Stability & positioning: seating shells, therapy chairs or positioning systems help to promote a stable posture and better control spasticity.
Mobility aids: Depending on the severity, walking aids, rehab buggies or wheelchairs help people to remain safely mobile and save strength.
Orthoses & stabilization: Orthoses can help to stabilize the leg axes, reduce spasticity and make walking easier.
Therapy & support: Therapeutic aids provide targeted support for mobility, muscle control and coordination and help to maintain abilities.
Everyday life & safety: If there is an increased risk of falling, stabilizing aids and adapted environments ensure greater safety.
Augmentative and Alternative Communication (AAC): Communication aids can make it easier to understand people with additional cognitive or language impairments.
Sleep & relief: Positioning systems and adapted beds can help to relieve the body and reduce spasticity, even at night.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net