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
Targeted aids are essential for children with ADNP syndrome in order to promote independence and reduce barriers in everyday life:
- Augmentative and Alternative Communication (AAC): as spoken language is often severely delayed, talkers (speech output devices), communication apps or picture card systems are key to participation.
- Structure and time planners: In the case of autism symptoms, visual daily schedules or time timers help to make the day more predictable and facilitate transitions between activities.
- Mobility & stability: For muscular hypotonia, rehab buggies, wheelchairs or special insoles provide support. An adapted therapy chair helps to maintain a stable and upright position when eating or learning.
- Sensory relief:Weighted blankets or sensory aids can help to calm the nervous system in the event of existing sleep disorders or motor restlessness.
- Safety aids: GPS trackers or special seat belts in the car can provide additional safety in cases of pronounced distancing or a lack of awareness of danger.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net