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
Tailor-made aids are the key to mobility and independence at MMC. The care is usually very individual and covers various areas:
- Mobility aids: Depending on the level of paralysis, active wheelchairs, rehab buggies or specialized standing trainers are used. Wheelchairs with a standing function can also be important to promote circulation and bone density.
- Orthopaedic care: To counteract deformities and enable walking, children often require custom-made orthoses (splints), standing devices or orthopaedic shoes.
- Continence management: For a clean and dignified life, aids for bladder emptying (e.g. disposable catheters) and bowel regulation (irrigation systems) as well as high-quality incontinence products are essential.
- Positioning and sitting: Special therapy chairs with anatomical seat shells support a stable posture and prevent pressure sores (bedsores) that the child would not feel themselves due to the sensory disorder.
- Bath and toilet aids: Shower chairs, toilet seats or bath lifts make daily care easier and promote independence.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net