Table 3.

Treatment of Manifestations in Individuals with GRIN2D-Related DEE

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Educational Issues.
Central visual impairment No specific treatment; early intervention w/vision therapy may help to stimulate visual development.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; no ASM has been demonstrated effective specifically for this disorder.
  • Education of parents / care givers 1
Poor weight gain 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 of dysphagia
Muscular hypotonia, spasticity, & movement disorder Orthopedics / physical medicine & rehab / PT/OT incl stretching to help avoid contractures & falls.Consider need for positioning & mobility devices, disability parking placard.

ASM = anti-seizure medication; 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: GRIN2D-Related Developmental and Epileptic Encephalopathy

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.