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 in everyday life
With Alpha-1, the provision of assistive devices focuses primarily on supporting respiratory function and maintaining physical resilience:
- Oxygen therapy: with advanced emphysema, mobile oxygen concentrators or liquid oxygen systems are necessary to ensure physical mobility in everyday life and when traveling.
- Inhalation therapy: High-quality inhalation devices (nebulizers) support the daily administration of medication and help to loosen thick mucus.
- Physiotherapeutic breathing aids: Aids such as the VRP1 device (flutter) or the PEP system use resistance when exhaling to dilate the bronchi and promote mucus transportation.
- Mobility aids: To relieve the respiratory pump during exertion, lightweight rollators or e-bikes can be useful for active exercise therapy.
- Monitoring: Mobile pulse oximeters for measuring oxygen saturation provide patients with safety during physical activity.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net