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
Due to the combination of muscle weakness and neurological challenges, aids play a key role in relieving the burden on families' everyday lives and supporting the child:
- Mobility & stability: due to the pronounced trunk hypotonia, individually adapted therapy chairs and rehab buggies with special pads and belt systems are essential. They enable an upright sitting position and participation in family life.
- Safety with epilepsy: To prevent injuries during seizures, safety helmets for daytime use and special sensor mats or monitors for night-time use can be important aids.
- Augmentative and Alternative Communication (AAC): As spoken language is often severely limited, alternative forms of communication such as buttons, symbols or eye control systems help the child to express their needs.
- Bathing and care aids: Due to the preference for water and simultaneous instability, special bathing frames or shower chairs can make the daily care ritual safer and more relaxed.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net