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
As the focus is on mental development and communication, targeted aids help to break down barriers in everyday life and promote independence:
- Augmentative and Alternative Communication (AAC): as spoken language is often limited, talkers (speech output devices), specialized apps on tablets or picture card systems are essential for participation.
- Structuring aids: For autism symptoms, visual schedules (e.g. time timers or pictograms) help to make everyday life predictable and reduce stress.
- Sensory aids: In the event of restlessness or perceptual disorders, weighted blankets or special positioning cushions can help to calm them down.
- Therapeutic support: Early speech therapy and occupational therapy support is crucial for the best possible development.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net