Table 4.

Treatment of Manifestations in Individuals with GNB1 Encephalopathy

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy 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
Poor weight gain /
Failure to thrive 		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
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices; disability parking placard.
Abnormal vision
&/or strabismus 		Standard treatment(s) per ophthalmologistCommunity vision services through early intervention or school district
Cortical visual impairment No specific treatment; early intervention to help stimulate visual development
Hearing Hearing aids may be helpful; per otolaryngologistCommunity hearing services through early intervention or school district
Palatal anomalies &/or
craniosynostosis 		Standardized treatment as recommended by craniofacial team
Bowel dysfunction Monitor for constipation.Stool softeners, prokinetics, osmotic agents or laxatives as needed
Dystonia Standardized treatment per neurologistDeep brain stimulation was effective in 1 person w/myoclonus-dystonia. 2
Cutaneous
mastocytosis 		Standardized treatment(s) & management per dermatologist
  • Avoid substances & environments that may provoke mast cell activation.
  • Standard treatment, incl non-sedating & longer-acting histamine (H1)-receptor antagonists to treat common symptoms 3
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support
  • Care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies
  • Ongoing assessment for need of palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

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.

2.
3.

From: GNB1 Encephalopathy

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