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
In order to promote development and make everyday life safer, tailor-made aids are essential for children with 16p11.2 duplication syndrome:
- Augmentative and Alternative Communication (AAC): as speech delays are common, talkers (speech computers), symbol cards or signing help the child to express needs clearly and break down barriers.
- Sensory relief: In the case of sensory overload or autism spectrum symptoms, weighted blankets help to calm the nervous system and noise-canceling headphones help with noise sensitivity.
- Structuring aids: Visual daily schedules and time timers offer security during transitions and promote cognitive orientation in the daily routine.
- Motor skills support: In the case of muscular hypotonia, ergonomic grip aids, special therapy chairs or orthopaedic inserts support posture and fine motor skills.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net