Table 3.

KMT2E-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Growth Measurement of head circumferenceTo assess for (relative) macrocephaly or microcephaly
Neurologic Neurologic eval
  • Consider referral to a neurologist.
  • Consider brain MRI as clinically indicated for seizures or focal neurologic concerns.
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 mos: screening for concerns incl ADHD, anxiety, &/or findings suggestive of ASD
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of nutritional status
  • Consider eval for gastrostomy tube placement in persons who have inadequate nutrition or concern for dysphagia.
Clinical assessment for signs & symptoms of GERD, chronic vomiting, & bowel dysmotilityConsider referral to gastroenterologist.
Respiratory/
Sleep 		Assessment for sleep disturbanceConsider referral to sleep disorders clinic.
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of KMT2E-NDD to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; KMT2E-NDD = KMT2E-related neurodevelopmental disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: KMT2E-Related Neurodevelopmental Disorder

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