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
GRIN1 syndrome is often associated with developmental delays, muscle hypotonia and limited communication. Individually adapted aids support development and everyday life:
Stability & positioning: seating shells, therapy chairs or positioning systems help to promote a stable posture and make everyday life more comfortable.
Mobility aids: Depending on motor skills, rehab buggies, wheelchairs or standing trainers support safe mobility and promote body awareness.
Augmentative and Alternative Communication (AAC): As spoken language is often limited, talkers, eye control systems or symbol cards make communication easier.
Therapy & support: Therapeutic aids provide targeted support for motor development, perception and cognitive skills and can be easily integrated into everyday life.
Everyday life & safety: In the event of increased agitation or epileptic seizures, protective measures and adapted aids can provide additional safety.
Sleep & relief: Positioning systems and adapted beds can help relieve restlessness or sleep problems for the child and family.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net