Table 4.

Recommended Surveillance for Individuals with GRIN2D-Related DEE

System/ConcernEvaluationFrequency
Central visual
impairment 		Ophthalmologic evalAs clinically indicated
Gastrointestinal Feeding, nutrition status, weight gainAs clinically indicated; for severely impaired patients: at every visit.
Musculoskeletal Exam for spasticity & scoliosis by treating orthopedics / physical medicine & rehab / PT/OTPer treating clinicians
Neurologic
  • Monitor those w/seizures.
  • Assess for new manifestations incl seizures, changes in tone, mvmt disorders.
Per treating neurologist
Psychiatric Behavioral assessment for anxiety, attention, & aggressive or self-injurious behaviorAs clinically indicated
Development Monitor developmental progress & educational needs.At each visit
Miscellaneous/
Other 		As clinically indicated
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

OT = occupational therapy; PT = physical therapy

From: GRIN2D-Related Developmental and Epileptic Encephalopathy

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