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
As Cornelia de Lange syndrome is very complex, the provision of aids must be individually tailored to the motor and sensory needs:
- Augmentative and Alternative Communication (AAC): as many children remain non-verbal or have difficulties with spoken language, signs, communication boards or electronic talkers help to avoid frustration and enable social participation.
- Hearing and visual aids: As sensory impairments are very common, early provision of hearing aids and glasses is crucial for cognitive development.
- Mobility & orthopaedics: Prostheses or gripping aids provide support in the event of limb deformities. For general muscle weakness, rehab buggies or active wheelchairs that are adapted to the often petite physique can help.
- Nutritional aids: Due to frequent reflux and feeding disorders, special sippy cups, anti-reflux pillows for elevated positioning or mobile feeding pumps (for tube dependency) may be necessary.
- Safety in everyday life: As some children show autistic traits or a tendency to self-harm, safety helmets or soft padded safety beds can be useful for a quiet sleeping environment.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net