Table 4.

Treatment of Manifestations in Individuals with MBD5 Haploinsufficiency

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.Speech therapy w/early intro of nonverbal communication methods (e.g., sign language & computer-assisted technologies) is appropriate given high risk for poor or absent speech.
Epilepsy
  • ASM such as valproate, clonazepam, zonisamide, & clobazam appear to be effective in reducing incidence of seizures. 1
  • Education of parents/caregivers 2
Many different ASMs may be effective. 1
Sleep disturbance Consider combined approach of targeted sleep hygiene (to develop firm daily schedules) & daily medications (e.g., melatonin, clonidine, trazodone). Mullegama et al [2015b]
Feeding Issues
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs/symptoms of dysphagia
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as neededConstipation can affect behavior.
Musculoskeletal
features 		Treatment of hip dysplasia & scoliosis per orthopedist
Cardiovascular
anomalies 		Treatment per cardiologist
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.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

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

1.
2.

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: MBD5 Haploinsufficiency

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.