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 to support everyday life
In the case of hypoxic brain damage, the aim of providing aids is to promote mobility, prevent secondary damage (such as deformities) and enable communication:
- Mobility & positioning: depending on the motor impairment, individually adapted wheelchairs, rehab buggies or standing trainers provide support. Therapy chairs with anatomical seat shells are essential for a stable posture in everyday life.
- Orthoses & standing aids: Custom-made orthoses or standing aids are often used to counteract spasticity and stabilize joints.
- Augmentative and Alternative Communication (AAC): If spoken language is impaired, electronic communication aids(talkers) or symbol-based systems offer the child the opportunity to communicate.
- Positioning during sleep: Special mattresses or positioning systems help to optimally support the body at night and prevent pressure points and contractures.
- Care and bathing aids: Bath lifts, shower chairs or special care beds make daily care easier and ensure safety in the bathroom.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net