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
Thanks to modern technology, children with Undine syndrome can now lead a largely normal life. The provision of specialized aids is essential for survival:
- Home ventilators: During sleep, patients must be artificially ventilated for the rest of their lives. This is done either non-invasively via a ventilator mask or invasively via a tracheostoma (tracheotomy).
- Monitoring: Consistent monitoring of oxygen saturation (pulse oximeter) and CO₂ levels at night is essential in order to raise the alarm immediately if breathing stops.
- Diaphragmatic pacemaker: In certain cases, an implanted pacemaker can support breathing movements and thus increase mobility.
- Suctiondevices: Mobile suction devices are essential to keep the airways clear, especially in the case of tracheostomy care.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net