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 the genetic cause cannot yet be cured, the focus is on symptomatic treatment and the provision of suitable aids to improve the child's quality of life:
- Light protection: specially made edge filter glasses or heavily tinted lenses are essential to minimize glare - both outdoors and in bright indoor spaces. Caps with a wide visor also help in everyday life.
- Magnifying visual aids: Screen readers, electronic magnifiers or special software for school help children with low visual acuity to participate.
- Optimal lighting: Indirect, glare-free lighting at home and at work creates a more pleasant environment for the child.
- Contact lenses: In some cases, iris print contact lenses can be used to create an artificial pupil and thus reduce the amount of light entering the eye.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net