Table 4.

KMT2E-Related Neurodevelopmental Disorder: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • 1 affected person experienced developmental regression while being treated w/ketogenic diet; more data is required to determine if ketogenic diet is contraindicated in this condition. 1
  • Education of parents/caregivers 2
Gastroesophageal reflux / Vomiting Standard therapy per gastroenterologist
Bowel dysmotility /
Constipation
Sleep disturbance Standard treatment per sleep medicine specialistAt least 1 affected person has been treated w/melatonin.
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.
2.

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: KMT2E-Related Neurodevelopmental Disorder

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