Published online August 14, 2006
PEDIATRICS Vol. 118 No. 3 September 2006, pp. e697-e703 (doi:10.1542/peds.2005-3114)
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ARTICLE

Olfactory Disorder in Children With 22q11 Deletion Syndrome

Christina Sobin, PhDa, Karen Kiley-Brabeck, PhDc, Kathryn Dale, MAd, Samantha H. Monk, MAe, Jananne Khuri, PhDf and Maria Karayiorgou, MDb

a Laboratory of Neuroendocrinology
b Human Neurogenetics, The Rockefeller University, New York, New York
c Children's Evaluation Center, Newton, Massachusetts
d Graduate Program in School Psychology, New York University, New York, New York
e Graduate Program in Clinical Psychology, Hofstra University, New York, New York
f Department of Neuroendocrinology, New York State Psychiatric Institute, College of Physicians and Surgeons, New York, New York

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.

Key Words: DiGeorge syndrome • velocardiofacial syndrome • nasal obstruction • dopamine • congenital abnormalities/anomalies

Abbreviations: 22q11DS—22q11 deletion syndrome • GABA—{gamma}-aminobutyric acid • VPI—velopharyngeal insufficiency • UPSIT—University of Pennsylvania Smell Identification Test • df—degree of freedom • IQR—interquartile range

Accepted Mar 20, 2006.