title: Olfactory disorder in children with 22q11 deletion syndrome.
abstract: OBJECTIVE
  22q11 deletion syndrome, a common human interstitial deletion syndrome (1:5000), is associated with a heterogeneous physical phenotype, including several factors that markedly increase the risk for olfactory disorder. Despite its potential consequences, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has not yet been examined.
  
  
  METHODS
  The University of Pennsylvania Smell Identification Test was administered to 62 children, including 39 with 22q11 deletion syndrome and 23 neurotypical control siblings who ranged in age from 5.3 to 14.8 years. Lowered smell detection accuracy among affected children was predicted.
  
  
  RESULTS
  Substantially more children with 22q11 deletion syndrome (68%) as compared with neurotypical control subjects (13%) had University of Pennsylvania Smell Identification Test scores > or = 2 SDs below the standardization sample mean. Frequency of impairment in younger versus older children did not differ. The score distributions of children with and without velopharyngeal insufficiency did not differ; however, markedly lower score variance among children with velopharyngeal insufficiency suggested its negative impact on olfaction. Posthoc error analyses revealed that affected children had special difficulty detecting smells that are associated with fumes and smoke.
  
  
  CONCLUSIONS
  Odor detection failures are ubiquitous among children with 22q11 deletion syndrome and are not associated with developmental delay or performance characteristics of younger affected children. Additional studies are needed to examine further the impact on olfaction of velopharyngeal insufficiency and compromised nasal airway patency. Children with 22q11 deletion syndrome should be evaluated routinely for olfactory disorder. When deficits are identified, caregivers should be warned of potential dangers that are associated with this type of sensory impairment.
authors.affiliation: Laboratory of Neuroendocrinology, The Rockefeller University, New York, New York, USA. casobin@utep.edu
authors.forename: Christina
authors.initials: C
authors.lastname: Sobin
authors.forename: Karen
authors.initials: K
authors.lastname: Kiley-Brabeck
authors.forename: Kathryn
authors.initials: K
authors.lastname: Dale
authors.forename: Samantha H
authors.initials: SH
authors.lastname: Monk
authors.forename: Jananne
authors.initials: J
authors.lastname: Khuri
authors.forename: Maria
authors.initials: M
authors.lastname: Karayiorgou
mesh_terms: D000293:Adolescent; D000367:Age Factors; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009812:Odorants; D000857:Olfaction Disorders / Q000209:etiology*; D010641:Phenotype; D013577:Syndrome; D014681:Velopharyngeal Insufficiency