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 children with congenital glutamine deficiency often face major motor challenges, choosing the right aids is crucial for participation in family life:
- Positioning and sitting: Special therapy chairs or individualized seating shells support children with poor head and trunk control. This not only facilitates feeding, but also interaction with the environment.
- Mobility: An individually adapted rehab buggy provides the necessary stability and safety for outings and visits to the doctor.
- Early support: Intensive physiotherapeutic support is essential to promote motor skills in the best possible way.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net