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 normal sunlight is painful for EPP patients, they need special aids to be able to participate in social life and everyday life outdoors:
- Special clothing: It is recommended to wear tightly woven, long clothing. Interestingly, fabrics in the color yellow often provide better protection from the harmful blue light component.
- EPP sunshades: Conventional sunshades are usually not sufficient. There are special sunshades that have a coating on the outside that actively reflects the blue component of sunlight.
- Window films: As visible light also penetrates glass, special UV and blue light filter films for car windows or windows in children's rooms can provide enormous relief.
- Gloves and headgear: To protect the extremities as well, special light-protective gloves and hats with wide brims are indispensable in summer.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net