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 ensure safety in everyday life and to support physical development, specific aids are of great importance for children with Smith-Magenis syndrome:
- Orthopaedic support: in the case of scoliosis, individually adapted trunk orthoses (corsets) or special therapy chairs help to support a correct sitting position and relieve pressure on the spine.
- Safety & protection: Due to the reduced sensitivity to pain, protective devices are important. These include, for example, safety helmets for motor restlessness or soft padding for the children's room to minimize the risk of injury.
- Sleep solutions: As sleep rhythms are often disturbed, specialized safety beds (care beds with high, padded bars) can help to create a protected sleeping environment and safely limit night-time wandering.
- Sensory stimulation: In order to strengthen self-awareness, weighted blankets or sensory aids from occupational therapy can help the patient to feel their body better and calm down.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net