Table 5.

Treatment of Manifestations in Individuals with SCN3A-Related Neurodevelopmental Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
Epilepsy Empiric treatment of seizures w/standard ASM 1
  • Incl lacosamide, phenytoin, & carbamazepine 2, 3
  • No one ASM has been shown to be more efficacious than another.
  • Education of parents/caregivers 4
Hyperkinetic
movements 		Standard treatment per neurologist
Autonomic
dysfunction
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Poor weight
gain / FTT 		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 or symptoms of dysphagia
Central visual
impairment 		No specific treatment; early intervention to stimulate visual development
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 home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; FTT = failure to thrive; OT = occupational therapy; PT = physical therapy

1.

Based on the finding that many/most variants (>90%) associated with epileptic encephalopathy in cases of SCN3A-related neurodevelopmental disorders were shown to exhibit gain of channel function [Zaman et al 2018, Zaman et al 2020], therapeutic trials of anti-seizure medications that target sodium channels may be indicated [Brunklaus 2020, Musto et al 2020]. However, clinical data on treatment efficacy are limited at this time.

2.
3.

Of the 15 affected individuals in the Zaman et al [2020] study for whom detailed treatment data were available, six were treated at some point in the disease course with anti-seizure drugs with a prominent mechanism of action of sodium channel blockade (oxcarbazepine, phenytoin, lacosamide, lamotrigine), and these drugs alone or in various combinations were ineffective at achieving seizure freedom or marked reduction in seizure frequency.

4.

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: SCN3A-Related Neurodevelopmental Disorder

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