Table 5.

Recommended Surveillance for Individuals with TRPM3-Related Neurodevelopmental Disorder

System/ConcernEvaluationFrequency
Development Monitor developmental progress & educational needs.At each visit
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, ataxia, &/or movement disorders.
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Psychiatric/Behavioral Behavioral assessment for autistic features & aggressive or self-injurious behavior
Eyes Ophthalmologic eval for evidence of strabismus or refractive errorsAnnually or as needed
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skillsAt each visit
Hearing Audiologic evalAnnually
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).At each visit

OT = occupational therapy; PT = physical therapy

From: TRPM3-Related Neurodevelopmental Disorder

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