Management

There are currently no disease-specific treatment guidelines for RABGAP1-related neurodevelopmental disorder. Management is therefore supportive and should be individualized according to the clinical manifestations of each patient.

Development and intellectual disability
Early developmental assessment and intervention are recommended. Patients should have access to individualized physiotherapy, occupational therapy, speech and language therapy, and educational support according to their developmental needs.

Hearing impairment
Because bilateral congenital sensorineural hearing loss has been reported in most affected individuals, formal audiological assessment should be performed at diagnosis and repeated according to clinical findings. Hearing amplification and other appropriate interventions should be considered when indicated.

Epilepsy
Patients should be monitored for seizures. Individuals with suspected epilepsy should undergo neurological assessment and EEG as clinically indicated. Antiseizure treatment should follow standard epilepsy management according to seizure type and clinical circumstances.

Neuromotor abnormalities
Assessment for hypotonia, hypertonia, spasticity, abnormal reflexes and motor impairment should be performed. Physiotherapy, occupational therapy and other supportive interventions should be considered according to the individual's needs.

Brain abnormalities
Brain MRI should be considered at diagnosis, particularly in individuals with neurological abnormalities, seizures, abnormal head growth or developmental concerns. The reported spectrum includes delayed myelination, reduced white matter volume, corpus callosum thinning and ventriculomegaly. Patients with hydrocephalus or other clinically significant structural abnormalities should be managed by the appropriate neurosurgical and neurological teams.

Ophthalmology
Ophthalmological evaluation should be considered because ptosis and strabismus have been reported.

Developmental and behavioral surveillance
Patients should be monitored for behavioral and psychiatric manifestations. Assessment for ADHD, autism spectrum disorder and other behavioral difficulties should be guided by clinical presentation.

Genetic counselling
Genetic counselling should be offered to affected individuals and their families. RABGAP1-related neurodevelopmental disorder is inherited in an autosomal recessive manner. Once the familial pathogenic variants are known, carrier testing and reproductive options, including prenatal and preimplantation genetic testing, may be discussed with the family.