Table 5.

EMC10-Related Neurodevelopmental Disorder: Recommended Surveillance

System/ConcernEvaluationFrequency
Development Assess developmental progress & educational needs.At each visit
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Neurobehavioral/
Psychiatric 		Behavioral assessment for ADHD & impaired social skills
Neurologic Monitor those w/seizures & asses for new seizures as clinically indicated.
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status
Renal Follow-up labs & imagingPer nephrologist
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

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

From: EMC10-Related Neurodevelopmental Disorder

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