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
A Kir6.2 mutation (KCNJ11) can be associated with neonatal diabetes and sometimes also with neurological abnormalities. Individually adapted aids support therapy and everyday life:
Blood glucose management: CGM systems (continuous glucose monitoring) and blood glucose meters help to reliably monitor values and react quickly to changes.
Medication management: Depending on the form of therapy, insulin pumps or the structured administration of medication (e.g. sulphonylureas) support everyday life and ensure a stable setting.
Connectivity & control: Many systems can be connected to apps or receivers so that values can be monitored in real time and viewed remotely.
Safety in everyday life: Alarms in the event of hypoglycaemia or hyperglycaemia help to react early and avoid critical situations.
Development & support: In the case of accompanying neurological abnormalities, therapeutic aids support motor and cognitive development.
Everyday life & relief: Modern technology and well-coordinated therapy make everyday life easier to plan and give children and families more security.
Learn more
You can find more helpful information about ADNP syndrome here:
www.orpha.net