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
The aim of providing aids is to minimize pressure on the nervous system, relieve pain and maintain independence in everyday life:
- Positioning & neck support: As pressure and poor posture increase pain, orthopaedic neck support pillows and positioning systems are essential. They help to keep the cervical spine stable and pressure-free at night.
- Mobility aids: In the case of gait disorders or dizziness, rollators or, in the case of progressive paralysis, wheelchairs provide the necessary safety. Good shock absorption is important here to avoid shocks to the spine.
- Everyday aids for sensory disorders: As those affected often cannot feel heat, aids such as insulated drinking cups or special protective gloves are important to avoid unnoticed burns in the home.
- Ergonomic writing and gripping aids: If there is a loss of strength in the hands, grip thickeners for cutlery, pen holders or specialized computer mice make it easier to participate in school, work and everyday life.
- Monitoring sleep apnoea: As Chiari malformation can affect the respiratory center, mobile monitors (pulse oximeters) provide safety in the event of nocturnal breathing difficulties.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net