Table 8.

Treatment of Manifestations in Individuals with Acute Infantile 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
Abnormal tone /
Impaired mobility 		PT/OTFor prevention of deformities
Feeding difficulties Gastrostomy tubeWill ↑ longevity but not preserve developmental function
Bowel dysfunction Monitor for constipation.Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Aspiration risks /
Excess secretion 		Gastrostomy tube, vibrator vest, improved pulmonary toilet, suppression of saliva productionWill ↓ aspiration & improve longevity but not developmental function
Family support In-home nursing & respite careSupport for health & quality of life of caregivers & sibs
Ethics
consultation 		Clinical ethics services
  • Assess health care decisions in the context of the best interest of the child & values & preferences of the family.
  • For difficult life-prolonging decisions or for clarification of treatment options, consider further consultation w/independent clinical teams. 2

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

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.

2.

From: Sandhoff Disease

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.