No clinical practice guidelines for KMT2E-related neurodevelopmental disorder (KMT2E-NDD) have been published.
Recommended evaluations following initial diagnosis:
● Constitutional/Growth: measurement of weight, height/length and head circumference to assess for (relative) macrocephaly or microcephaly.
● Neurologic: consider a brain MRI as clinically indicated for seizures, progressive macrocephaly, or focal neurological concerns. Consider EEG if seizures are a concern.
● Developmental: adaptive, cognitive, and speech/language evaluation to evaluate need for early intervention/special education and/or speech therapy.
● Psychiatric/behavioural: for individuals age >12 months: screening for behaviour concerns including sleep disturbances, ADHD, anxiety, and/or traits suggestive of ASD.
● Musculoskeletal: assess for gross motor and fine motor skills, mobility, activities of daily living, and need for adaptive devices, need for physical therapy (to improve gross motor skills) and/or occupational therapy (to improve fine motor skills)
● Gastrointestinal/ feeding: evaluation of aspiration risk and nutritional status. Consider evaluation for G tube placement in patients with dysphagia and/or aspiration risk.
● Genetic counseling: is recommended to review disease characteristics, recurrence risks and options for family planning.
Treatment of Manifestations:
● Developmental delay/Intellectual disability: early intervention and special education services, physical, occupational, and speech therapies as appropriate.
● Seizures: standardised treatment with anti-seizure medication by an experienced neurologist. Seizures are often well control by a variety of anti-seizure medications, although none have been demonstrated to be particularly effective for this disorder.
● Growth and feeding: monitor growth and feeding with low threshold for clinical feeding evaluation and/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia; G tube placement may be required for persistent feeding issues in some cases.
● Bowel dysfunction: Monitor for constipation. Use stool softeners, prokinetics, osmotic agents, or laxatives as needed.
● Ophthalmology: treatment of refractive errors and/or strabismus.
● Family/community: Ensure appropriate social work involvement to connect families with local resources, respite, and support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, and supplies. Ongoing assessment of need for palliative care involvement and/or home nursing. Consider involvement in adaptive sports or Special Olympics.
KMT2E