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
CVI is a spectrum - every child sees differently. However, with early diagnosis and the right aids, everyday life can be made much more accessible:
- High-contrast design: aids such as high-contrast eating sets (e.g. yellow plates on a dark base) or marked stair nosings help with orientation.
- Lighting aids: Special lamps or light tables can help to direct the child's attention to a specific object, as light stimuli are often processed better in CVI.
- Magnifying visual aids: Electronic magnifiers or tablets can be used to isolate details and block out the background, reducing visual overstimulation.
- Mobility aids: If spatial orientation is uncertain, long canes (for children) or prominent markings on a rehab buggy can provide reassurance.
- Special software: Visual stimulation apps that work with high contrasts and clear shapes support visual learning in a playful way.
- Reduction of stimuli: Less is more. Clear away the toys that are not currently needed to facilitate visual focus.
- Clear structures: Use single-colored backgrounds (e.g. a black mat) on which the toys are placed.
- Take your time: Children with CVI often need a "latency period" until the brain has processed what it has seen.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net