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
Due to multi-organ involvement, affected children require close medical care and often specific aids to help them cope safely with everyday life:
- Mobility aids: In the case of neurological consequences (e.g. after a stroke or general weakness), wheelchairs or rehab buggies help to keep the strain on the cardiovascular system to a minimum.
- Continence aids: As bladder and bowel function is often affected, discreet and high-quality care aids (such as catheters or incontinence material) play an important role in quality of life and social participation.
- Monitoring technology: Due to vascular problems, home monitoring devices (e.g. to check blood pressure) can be useful after consultation with doctors.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net