Table 5.

Recommended Surveillance for Individuals with SETD1B-Related Neurodevelopmental Disorder

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Development Monitor developmental progress & educational needs.
  • At each visit
  • Persons w/SETD1B-NDD may demonstrate developmental regression, even in absence of seizures, & normal initial eval should not preclude continued monitoring & support during early childhood.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & mvmt disorders.
At each visit
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Sleep Assess for sleep disturbance.
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

OT = occupational therapy; PT = physical therapy

From: SETD1B-Related Neurodevelopmental Disorder

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