Table 4.

DLG4-Related Synaptopathy: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist or epileptologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Migraine Standard treatment per neurologistConsider migraine mimics, such as sinus disease, in children w/speech-language delay
Ataxia Physical medicine & rehab / PT & OT / movement disorder specialist
  • Adjustments to classroom or therapy setting to allow for better truncal support
  • Mobility, ADL, & need for adaptive devices for home/school
Dystonia Standard treatment per neurologist
Eye issues Standard treatment per ophthalmologistFor refractive errors, strabismus
Low vision services
  • Children: through early intervention programs &/or school
  • Adults: low vision clinic &/or community vision services / OT / mobility services
Cerebral visual impairment No specific treatmentEarly intervention program to stimulate visual development
Sleep disturbances
  • Behavioral therapy for insomnia
  • Consider pharmacotherapy for refractory cases
Assess for concurrent medications that could be contributing to sleep disruption.
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.

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: DLG4-Related Synaptopathy

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