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 the complexity of the symptoms, children with lissencephaly require anticipatory care with aids to ensure quality of life and prevent consequential damage:
- Stability & positioning: due to muscle weakness or spasticity, individually adapted seat shell bases or therapy chairs are essential. These support the trunk and enable a secure head position.
- Mobility aids: Specialized rehab buggies or wheelchairs with a reclining function enable participation in everyday family life and provide space for medical technology accessories (e.g. suction devices).
- Safety with epilepsy: To minimize the risk of injury during seizures, safety helmets and special epilepsy sensor mats for night-time monitoring are important companions.
- Safe sleeping & positioning: Care beds with high, softly padded side walls and special positioning cushions help to prevent contractures and create a safe sleeping environment.
- Eating and swallowing aids: Specialized drinking cups, feeding tube accessories or mobile suction devices may be necessary to keep the airways clear if swallowing is impaired.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net