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 if the head is larger or smaller than expected.
● Neurologic: consider a brain MRI if there is a concern for seizures or changes in the head compared to the person’s body. An EEG is recommended if there is concern for seizures.
● Developmental: motor, adaptive, intellectual, and speech/language evaluation and for early intervention/special education
● Psychiatric/behavioural: for individuals age >12 mos: screening for behaviour concerns including sleep disturbances, ADHD, anxiety, and/or traits suggestive of autism spectrum disorder.
● Musculoskeletal: assess for overall motor and fine motor skills, mobility, activities of daily living, and need for adaptive devices, need for physical therapy (to improve overall motor skills) and/or occupational (to improve fine motor skills)
● Gastrointestinal/ feeding: evaluation for nutritional status and possibility of taking in food through the airway risk. Consider gastric tube placement in patients with feeding issues.
● 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
● Seizures: standardised treatment with anti-seizure medication by an experienced neurologist. Many anti-seizure medications may be effective; although none have been demonstrated effective specifically for this disorder.
● Growth and feeding: clinical feeding evaluation and/or swallowing study when showing clinical signs or symptoms of feeding issues; tube placement may be required for persistent feeding issues.
● Ophthalmology: treatment of strabismus or other vision issues
● Bowel dysfunction: Monitor for constipation. Use stool softeners or laxatives as needed.
● Family/community: Ensure appropriate social work involvement to connect families with local resources 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.
Resources:
KMT2E Simon’s Searchlight Community
Phone: 1-855-329-5638
Email: coordinator@simonssearchlight.org
https://www.facebook.com/groups/KMT2E/about/
KMT2E