Table 5.

KMT2E-Related Neurodevelopmental Disorder: Recommended Surveillance

System/ConcernEvaluationFrequency
Growth Measurement of growth parameters, incl head circumference 1At each visit
Neurologic
  • Monitor those w/seizures as clinically indicated. 2
  • Assess for new manifestations such as seizures or changes in tone.
Development Monitor developmental progress & educational needs.
Neurobehavioral/
Psychiatric 		Assess for anxiety, ADHD, ASD, aggression, & self-injury.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Gastrointestinal Monitor for chronic vomiting & constipation.
Respiratory/Sleep Assess for signs/symptoms of sleep disturbance.
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

OT = occupational therapy; PT = physical therapy

1.

To assess for macrocephaly, relative macrocephaly, and microcephaly (see Clinical Characteristics)

2.

Careful monitoring is required if an affected individual is placed on a ketogenic diet, given that one affected individual placed on this therapy experienced developmental regression (without improvement in seizure control) [O'Donnell-Luria et al 2019].

From: KMT2E-Related Neurodevelopmental Disorder

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