Given the paucity of affected individuals reported, there are currently no specific management and surveillance guidelines for Snyder-Robinson syndrome. As no cure for this condition is available yet, symptomatic treatment should be established based on the occurrence of clinical manifestations.
General advice includes:
- Assessment by a Clinical Geneticist
- Assessment by Neurology, as required, and symptomatic management of neurologic involvement/seizures
- Developmental assessment
- Referral to speech, physical and occupational therapies
- DEXA scan for osteoporosis (note that the use of bisphosphonate for osteoporosis in Snyder-Robinson syndrome is controversial) and orthopedic evaluation for kyphoscoliosis
- Audiology for hearing impairment
- Genetic counselling should be made available to parents