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
Due to neurological impairments and often limited coordination, it is particularly important to provide individually adapted aids:
Stability & positioning: in the case of coordination disorders and muscle hypotonia, adapted seat shells, therapy chairs or positioning systems support a stable posture and greater comfort in everyday life.
Mobility aids: Depending on the severity, rehab buggies, wheelchairs or walking aids help people to get around safely. Standing trainers can also promote body awareness and stability.
Augmentative and Alternative Communication (AAC) : Talkers, communication aids or symbol systems make everyday communication easier for people with speech and language disorders.
Everyday life & safety: Safety helmets and stabilizing aids can provide additional safety in the event of balance problems or the risk of falling.
Therapy & support: Therapeutic aids provide targeted support for motor development, coordination and perception and can be easily integrated into everyday life.
Sleep & relief: In the event of sleep problems or restlessness, positioning systems and adapted beds can contribute to more rest and relief for the child and family.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net