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
Depending on its severity, neurofibromatosis can be associated with physical, neurological and cognitive impairments. Individually adapted aids support development and everyday life:
Stability & positioning: sitting aids, orthoses or positioning systems can help to prevent incorrect posture and stabilize the body.
Mobility aids: In the case of motor impairments, rehab buggies, wheelchairs or walking aids provide support in getting around safely and as independently as possible.
Therapy & support: Therapeutic aids provide targeted support for motor development, coordination and perception and help to strengthen existing skills.
Vision & perception: Visual aids and adapted environments can make everyday life easier for people with visual impairments.
Augmentative and Alternative Communication (AAC): Communication aids or structuring systems can support communication in the event of learning or language difficulties.
Everyday life & relief: Structuring aids and adapted solutions help to make everyday life clearer and relieve the burden on the child and family.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net