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
In order to promote development and make everyday life safer, tailor-made aids are essential for children with Dup15q syndrome:
- Safety with epilepsy: as seizures are often difficult to predict, safety helmets for the day and special epilepsy sensor mats for the night provide important safety. A special care bed with high upholstered sides can also protect against injuries.
- Mobility aids: In the case of pronounced muscle weakness, rehab buggies or wheelchairs with stabilizing seat shells support correct posture and enable participation in excursions.
- Augmentative and Alternative Communication (AAC): Talkers, symbol cards or gestures help the child to communicate in order to overcome the barriers caused by language delays or autism.
- Sensory relief:weighted blankets or compression vests can help to calm the nervous system in the event of sensory overload. Hearing protection headphones are also helpful for noise sensitivity.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net