Table 9.

Treatment of Manifestations in Individuals with Subacute Juvenile Sandhoff Disease

Manifestation/ConcernTreatmentConsiderations/Other
Seizures Standardized treatment w/ASM by experienced neurologist
  • Seizures are often progressive & refractory.
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Complete seizure control is seldom achieved & requires balancing w/sedative side effects of ASMs.
  • Education of parents/caregivers 1
Spasticity Stretching, splints, pharmacologic treatment
Developmental plateau /
Cognitive decline 		See Developmental Delay / Intellectual Disability Management Issues.
Feeding difficulties Gastrostomy tubeWill ↑ longevity but not preserve developmental function
Bowel dysfunction Monitor for constipation.Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Saliva pooling /
Drooling 		Botulinum toxin to salivary glands, topical anticholinergic agents (drops)Botox may spread to adjacent bulbar muscles, worsening dysphagia.
Family support In-home nursing & respite care as needed w/progression of diseaseSupport for health & quality of life of caregivers & sibs

ASM = anti-seizure medication; IEP = individualized education program

1.

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

From: Sandhoff Disease

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