Management

There is currently no treatment that specifically corrects the underlying genetic cause of RABGAP1-related neurodevelopmental disorder. Treatment focuses on helping each child with their individual needs.

Children should receive regular developmental assessments and appropriate therapies, which may include physiotherapy, occupational therapy, speech and language therapy and educational support.

Because hearing loss is common, children should have regular hearing assessments. Hearing aids or other appropriate hearing support may be recommended when needed.

Children should be monitored for seizures. If seizures occur, assessment by a neurologist and appropriate treatment with anti-seizure medication may be necessary.

Children with differences in muscle tone may benefit from physiotherapy and other supportive treatments.

An eye examination may be appropriate because drooping of an eyelid and eye misalignment have been reported.

Brain MRI and additional neurological assessment may be recommended when there are seizures, abnormal head growth or other neurological concerns.

The exact medical follow-up should be individualized for each child because the condition is very rare and doctors are still learning about its full range of features.