Article
Olfactory Disorder in Children with the 22q11 Deletion Syndrome
Publication Date
September 2006
Journal/Book Title/Conference
Pediatrics
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 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.