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
Friedreich's ataxia is a progressive neurological disease that primarily affects coordination, balance and muscle strength. Individually adapted aids support independence and everyday life:
Stability & positioning: seating shells, therapy chairs or positioning systems help to promote a stable posture and prevent incorrect weight bearing.
Mobility aids: Walking aids, wheelchairs or rehab buggies help you to remain safely mobile and save strength - especially if you become increasingly unsteady in your gait.
Orthoses & stabilization: Orthoses can help to stabilize the foot and leg axes and make walking easier.
Therapy & support: Therapeutic aids provide targeted support for coordination, balance and muscle strength and help to maintain abilities for as long as possible.
Everyday life & safety: If there is a risk of falling, protective measures and adapted aids can provide additional safety in everyday life.
Sleep & relief: Adapted beds and positioning systems provide more comfort and support a restful night's sleep.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net