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
As the brain often absorbs stimuli unfiltered with FASD, aids that provide calm, structure and security are crucial:
- Structuring aids: Visual daily schedules (e.g. with pictograms), time timers to visualize time spans or digital planners help to make everyday life more predictable and reduce anxiety.
- Sensory aids:weighted blankets or compression vests offer deep body awareness and help the central nervous system to calm down. Hearing protection headphones are also valuable companions in noisy environments.
- Therapy chairs and seating aids: For motor restlessness or weak muscle tone, special chairs with restraints (e.g. pads) provide physical safety and promote concentration when doing homework.
- Safety outdoors: As children with FASD are often unable to correctly assess dangers (lack of awareness of danger), tracking systems (GPS trackers) or special safety belts in the rehab buggy or car can be important companions.
In addition to technical aids, children with FASD need an environment that "thinks for them". Clear rules, brief instructions and avoiding sensory overload are the best supporters in everyday life.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net