Table 5.

Treatment of Manifestations in Individuals with Snyder-Robinson Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID Speech therapy, PT, &/or OTSome persons have performed appropriately in special education programs, learned to follow commands, & held simple jobs [Arena et al 1996]; others showed no improvement of psychomotor skills w/special education [Becerra-Solano et al 2009].
Cleft palate Standard surgical treatment per craniofacial team
Osteoporosis Calcium supplementation
  • Calcium supplementation has slightly improved bone mineral density in a few persons [Becerra-Solano et al 2009]. Calcium supplementation should be started once ↓ bone mineral density is noted.
  • The use of bisphosphonates is controversial & no studies currently demonstrate their effectiveness [Albert et al 2015].
Kyphoscoliosis Standard mgmt per orthopedist
Epilepsy Standardized treatment w/ASM by experienced neurologist 1
  • Carbamazepine, phenobarbital, clobazam, levetiracetam & valproic acid have successfully controlled seizures in some persons.
  • Avoid medications known to affect bone (e.g., some ASMs) as they can potentially worsen osteoporosis & ↑ risk of spontaneous fractures.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; OT = occupational therapy; PT = physical therapy

1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Snyder-Robinson Syndrome

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