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
To increase safety and promote your child's development, there are specialized aids that make everyday life with SYNGAP1 easier:
- Safety for epilepsy: as seizures can occur suddenly, safety helmets for during the day and epilepsy sensor mats for the bed at night provide important protection against injury.
- Mobility aids: In cases of motor insecurity, individually adapted rehab buggies or wheelchairs can help, providing stability for the child and enabling them to walk longer distances.
- Sensory support:Weighted blankets or compression vests are often very helpful in calming the nervous system in the event of sensory overload. Hearing protection can also provide relief in cases of noise sensitivity.
- Augmentative and Alternative Communication (AAC): If spoken language is limited, talkers or symbol cards help the child to communicate and avoid frustration.
- Safe sleeping: Specialized care beds with high upholstered walls offer protection in the event of night-time restlessness or seizures during sleep.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net