Table 9.

Recommended Surveillance for Individuals with SETD2-NDD with or without Macrocephaly/Overgrowth

System/ConcernEvaluationFrequency
Constitutional Measurement of growth parametersMonthly weight checks at home for obesity prevention starting in 2nd yr of life
Developmental
delay 		Monitor developmental progress & educational needs.At each visit
Psychiatric/
Behavioral 		Monitor for anxiety, attention, & aggressive or self-injurious behavior.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations incl seizures, changes in tone, mvmt disorders.
Endocrinologic TSH & free T4Annually or as clinically indicated
Clinical eval for signs & symptoms of precocious pubertyAt each visit during childhood
Musculoskeletal Clinical eval for scoliosisAt each visit in childhood until completion of puberty
Eyes Ophthalmologic evalAnnually or as clinically indicated
Hearing Audiologic eval
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

From: SETD2 Neurodevelopmental Disorders

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