Table 3.

Treatment of Manifestations in Individuals with GRIN1-Related Neurodevelopmental Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability
See Developmental Delay / Intellectual Disability Educational Issues.
Central visual impairment No specific treatment; early intervention w/vision therapy may help to stimulate visual development.
Seizures Standardized treatment w/ASMs by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Muscular hypotonia, spasticity, & movement disorder Orthopedics / physical medicine & rehab / PT & OT incl stretching to help prevent contractures & fallsConsider 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: GRIN1-Related Neurodevelopmental Disorder

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