Table 7.

EZH2-Related Overgrowth: Recommended Surveillance

System/ConcernEvaluationFrequency 1
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & movement disorders.
Development Monitor developmental progress & educational needs.
Neurobehavioral/
Psychiatric 		Assessment for anxiety, ADHD, ASD, aggression, & self-injury
Musculoskeletal
  • Physical medicine, OT/PT assessment of mobility, self-help skills
  • Monitoring by pediatrician for resolution/improvement of camptodactyly &/or hypotonia
  • If scoliosis is present, monitor per orthopedist.
Regular follow up w/frequency dependent on severity
Malignancy Neuroblastoma surveillance: current recommendations incl clinical vigilance & thorough investigation of possible tumor-related symptoms. 2Neuroblastoma surveillance has been inconsistent, w/no data supporting modality of surveillance, screening interval, or duration.
Family/Community Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

1.

In older children / teenagers who do not have medical complications, the clinician may wish to review less frequently than in younger children.

2.

Current data suggest a slightly increased relative risk for the development of neuroblastoma in individuals with heterozygous germline EZH2 pathogenic variants. Although the numbers are too small to quantify the absolute tumor risk, it appears to be low (see Clinical Description, Tumors).

From: EZH2-Related Overgrowth

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