ADARB1

Management

Management
Treatment in a multidisciplinary team is recommended and should be directed by the symptoms presenting in the affected person.

The long-term follow-up of the patients should be coordinated by a paediatrician with experience in intellectual disability or a developmental paediatrician.

Special attention should be given to:
●    Growth
●    Early detection of feeding problems
●    Monitoring the developmental progress
●    Referral for neurological assessment by EEG, including routine neurological evaluation
●    Seizure management

Currently there is no curative treatment available.

Genetic Counselling
The ADARB1-related syndrome has an autosomal recessive inheritance.