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 for everyday life
As MLD is a progressive disease, the provision of aids must be planned in advance in order to maintain the child's mobility and comfort for as long as possible:
- Mobility aids: Individually adapted rehab buggies or wheelchairs with special seat shells provide stable support as muscle control declines.
- Positioning and care: Special mattresses for decubitus prophylaxis (prevention of bedsores) and care beds make daily care at home easier.
- Nutritional support: If swallowing is difficult, eating and drinking aids or suction devices may be necessary.
- Communication aids: Simple buttons or eye-controlled communication systems help to maintain contact with the environment.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net