Table 4.

Treatment of Manifestations in Individuals with HIST1H1E Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Behavioral Behavioral mgmt strategies & consideration of medication to treat ADHDIn consultation w/developmental pediatrician or psychiatrist
Seizures Standardized treatment w/ASMs by experienced neurologistEducation of parents/caregivers 1
Cryptorchidism in males Standard treatment per urologist
Congenital heart defects Standard treatment per cardiologist
Hypothyroidism Thyroid hormone replacement per endocrinologist
Craniosynostosis Standard treatment, ideally through a craniofacial centerTreating physicians may incl neurosurgeons & plastic surgeons.
Scoliosis Standard treatment per orthopedist
Decreased bone
mineral density
  • Treatment of fractures by orthopedist w/expertise in disorders w/low bone density
  • Avoidance of activities that ↑ risk of fracture
Abnormal dentition By a pediatric dentist specializing in care of children w/neurodevelopmental disorders &/or enamel hypoplasiaWhen possible
Hearing loss Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district; if conductive hearing loss, pressure-equalizing tube placement could be considered.
Strabismus /
Refractive error 		Standard treatment per ophthalmologist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.

ADHD = attention-deficit/hyperactivity disorder; ASM = anti-seizure medication

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: HIST1H1E Syndrome

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.