HIVEP2

Management

Currently, there are no specific consensus-based guidelines or recommendations for clinical care related to HIVEP2 disorder.

Treatment of manifestations
Treatment of manifestations is largely supportive. Affected individuals should receive speech and language therapy, physical therapy, occupational therapy, and special education, based on their specific needs. Hippotherapy and aquatherapy may be helpful for addressing axial hypotonia, while augmentative alternative communication may be helpful for individuals with limited spoken language. Applied behavioural analysis therapy may be beneficial for affected individuals with a diagnosis of autism spectrum disorder. Treatment of neurological manifestations, such as epilepsy, and behavioural problems, such as attention deficit hyperactivity disorder, can follow standard approaches.

Surveillance
Affected individuals should undergo routine examinations with ophthalmology and periodic monitoring of hips and spine with orthopedics.