Table 5.

Recommended Surveillance for Individuals with MBD5 Haploinsufficiency

System/ConcernEvaluationFrequency
Development
  • Monitor developmental progress & educational needs.
  • Physical medicine, OT/PT assessment of mobility, self-help skills
At each visit &/or as needed
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new seizures.
At each visit
Neurobehavioral/
Psychiatric
  • Assessment for sleep disturbance
  • Assessment for anxiety, attention, & aggressive or self-injurious behavior
Feeding/
Gastrointestinal
  • Eval of nutritional status
  • Monitor for constipation.
Musculoskeletal Clinical assessment for scoliosisAnnually throughout childhood
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

OT = occupational therapy; PT = physical therapy

From: MBD5 Haploinsufficiency

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