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
Children born with mosaic trisomy 2 require close monitoring by various specialists. Depending on the severity of the symptoms, various aids can promote development:
- Early intervention & therapy: physiotherapy and occupational therapy are key components in compensating for motor development delays.
- Mobility aids: In the case of pronounced muscle weakness or coordination disorders, rehab buggies or special walking aids can support mobility in everyday life.
- AAC: If speech development is delayed, picture cards or communication boards can help to ensure participation in family life.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net