Table 5.

Recommended Surveillance for Individuals with HNRNPU-Related Neurodevelopmental Disorder

System/ConcernEvaluationFrequency
Growth/Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Gastrointestinal Monitor for constipation.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures & changes in tone.
Development Monitor developmental progress & educational needs.
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Respiratory Monitor for evidence of hyperventilation & apnea.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
Eyes Ophthalmologic evalAnnually or as clinically indicated
Hearing Audiologic eval

OT = occupational therapy; PT = physical therapy

From: HNRNPU-Related Neurodevelopmental Disorder

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