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
Due to the combination of muscle weakness and susceptibility to infection, a forward-looking supply of aids is crucial:
- Stability & positioning: due to the severe hypotension, individually adapted therapy chairs or seat shells are necessary. These support an upright posture, which is particularly important in order to optimally ventilate the lungs and prevent choking when eating.
- Mobility aids: Depending on motor skills, rehab buggies, active wheelchairs or stabilizing standing trainers provide support. Standing trainers also promote bone density and relieve pressure on the internal organs.
- Respiratory support: Due to the susceptibility to infection, mobile suction devices and cough assistants (CoughAssist) are often vital to clear the airways of mucus.
- Augmentative and Alternative Communication (AAC): As spoken language is usually lacking, eye control systems, talkers or simple symbol cards help the child to communicate.
- Safety during sleep: Specialized care beds make daily care easier and allow the upper body to be elevated to relieve reflux and breathing difficulties at night.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net