Table 7.

Recommended Surveillance for Individuals with 22q11.2 Deletion Syndrome

System/ConcernEvaluationFrequency
ENT Eval for nasal speech qualityAfter language emergence to screen for VPI
Immunology Antibody studies to assess for seroconversionBetween ages 9 & 12 mos; consideration of repeat immunologic eval prior to any live virus vaccine
CBC w/differentialAnnually
Endocrine Serum ionized calcium
  • Every 3-6 mos in infancy, every 5 yrs through childhood, then every 1-2 yrs
  • Preoperatively & postoperatively
  • Regularly during pregnancy
TSH & free T4Annually
Ophthalmology Ophthalmologic evalBetween ages 1 & 3 yrs or as needed based on symptoms
Audiology Audiology evalIn infants, preschool age, & school age children
Development Developmental assessmentsAnnually
Musculoskeletal Clinical surveillance for scoliosis
Dental Dental examEvery 6 mos

VPI = velopharyngeal incompetence

From: 22q11.2 Deletion Syndrome

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