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
Depending on the phase of the illness, different aids support the child's development and safety:
- In the infant phase: specialized drinking aids for drinking weakness as well as positioning aids or special high chairs that support weak muscle tone and promote upright posture.
- To promote motor skills:standing trainers or active wheelchairs help to compensate for the low calorie consumption through movement and strengthen the muscles.
- Household safety: In the case of pronounced hyperphagia, locks for kitchen cupboards or refrigerators may be necessary as aids for structuring everyday life.
- Structural aids: Visual daily schedules help to reduce the behavioral problems and anxiety that often occur through predictability.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net