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 the form, lysosomal storage diseases (LSDs) can be accompanied by progressive physical and neurological impairments. It is important to provide individually adapted aids at an early stage in order to make everyday life easier and maintain quality of life:
Stability & positioning: seating shells, positioning systems and individually adapted aids support a stable posture and prevent incorrect weight-bearing.
Mobility aids: Depending on the course of the disease, rehab buggies, wheelchairs or walking aids help to save strength and remain safely mobile.
Respiratory support: If you have breathing problems, support systems can help to make breathing easier and keep the airways clear.
Augmentative and Alternative Communication (AAC): Talkers, symbol systems or eye control systems enable better communication in the event of speech loss or limited communication.
Therapy & support: Therapeutic aids support mobility, perception and cognitive abilities and can be individually adapted.
Everyday life & relief: Adapted aids make care, transfers and daily routines easier and relieve the burden on the family.
Sleep & relief: Care beds and positioning systems can relieve the body and contribute to more rest and safety during sleep.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net