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
After a stroke, movement, perception and communication may be impaired, depending on the severity. Individually adapted aids support development and everyday life:
Stability & positioning: seating shells, therapy chairs or positioning systems help to promote a stable posture and provide optimum support for the body.
Mobility aids: Rehab buggies, wheelchairs or walking aids enable greater independence and safety in everyday life. Standing trainers can also promote body awareness.
Therapy & support: Therapeutic aids provide targeted support for motor development, coordination and perception and help to rebuild lost skills.
Augmentative and Alternative Communication (AAC): Talkers, symbol systems or communication aids make it easier to understand speech or language disorders.
Everyday life & safety: Depending on the restriction, orthoses or protective measures can help to stabilize movements and prevent injuries.
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