{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:09:50Z","timestamp":1790798990938,"version":"4.1.0"},"reference-count":28,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,9,1]]},"abstract":"<jats:p>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.<\/jats:p><jats:p>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.<\/jats:p><jats:p>RESULTS. Substantially more children with 22q11 deletion syndrome (68%) as compared with neurotypical control subjects (13%) had University of Pennsylvania Smell Identification Test scores \u22652 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.<\/jats:p><jats:p>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.<\/jats:p>","DOI":"10.1542\/peds.2005-3114","type":"journal-article","created":{"date-parts":[[2006,8,15]],"date-time":"2006-08-15T00:29:27Z","timestamp":1155601767000},"page":"e697-e703","source":"Crossref","is-referenced-by-count":26,"title":["Olfactory Disorder in Children With 22q11 Deletion Syndrome"],"prefix":"10.1542","volume":"118","author":[{"given":"Christina","family":"Sobin","sequence":"first","affiliation":[{"name":"Laboratory of Neuroendocrinology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Kiley-Brabeck","sequence":"additional","affiliation":[{"name":"Children's Evaluation Center, Newton, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Dale","sequence":"additional","affiliation":[{"name":"Graduate Program in School Psychology, New York University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha H.","family":"Monk","sequence":"additional","affiliation":[{"name":"Graduate Program in Clinical Psychology, Hofstra University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jananne","family":"Khuri","sequence":"additional","affiliation":[{"name":"Department of Neuroendocrinology, New York State Psychiatric Institute, College of Physicians and Surgeons, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Karayiorgou","sequence":"additional","affiliation":[{"name":"Human Neurogenetics, The Rockefeller University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,9,1]]},"reference":[{"key":"2021120822545943600_R1","doi-asserted-by":"crossref","unstructured":"Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics.\u20082003;112(pt 1):101\u2013107","DOI":"10.1542\/peds.112.1.101"},{"key":"2021120822545943600_R2","doi-asserted-by":"crossref","unstructured":"Murphy KC, Owen MJ. Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry.\u20082001;179:397\u2013402","DOI":"10.1192\/bjp.179.5.397"},{"key":"2021120822545943600_R3","doi-asserted-by":"crossref","unstructured":"Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet.\u20082003;362:1366\u20131373","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"2021120822545943600_R4","doi-asserted-by":"crossref","unstructured":"Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet.\u20081997;34:798\u2013804","DOI":"10.1136\/jmg.34.10.798"},{"key":"2021120822545943600_R5","doi-asserted-by":"crossref","unstructured":"Pulver AE, Nestadt G, Goldberg R, et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis.\u20081994;182:476\u2013478","DOI":"10.1097\/00005053-199408000-00010"},{"key":"2021120822545943600_R6","unstructured":"Martin JH. The basal ganglia. In: Neuroanatomy: Text and Atlas. Norwalk, CT: Appleton & Lange; 1989: 267\u2013289"},{"key":"2021120822545943600_R7","doi-asserted-by":"crossref","unstructured":"van Elst LT, Valerius G, Buchert M, et al. Increased prefrontal and hippocampal glutamate concentration in schizophrenia: evidence from a magnetic resonance spectroscopy study. Biol Psychiatry.\u20082005;58:724\u2013730","DOI":"10.1016\/j.biopsych.2005.04.041"},{"key":"2021120822545943600_R8","doi-asserted-by":"crossref","unstructured":"Sobin C, Kiley-Brabeck K, Karayiorgou M. Lower prepulse inhibition in children with the 22q11 deletion syndrome. Am J Psychiatry.\u20082005;162:1090\u20131099","DOI":"10.1176\/appi.ajp.162.6.1090"},{"key":"2021120822545943600_R9","doi-asserted-by":"crossref","unstructured":"Sobin C, Kiley-Brabeck K, Karayiorgou M. Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndrome. Mol Psychiatry.\u20082005;10:553\u2013562","DOI":"10.1038\/sj.mp.4001609"},{"key":"2021120822545943600_R10","doi-asserted-by":"crossref","unstructured":"MacFarlane A. Olfaction in the Development of Social Preferences in the Human Neonate. New York, NY: Elsevier; 1975","DOI":"10.1002\/9780470720158.ch7"},{"key":"2021120822545943600_R11","doi-asserted-by":"crossref","unstructured":"Engen T, Lipsitt LP. Decrement and recovery of responses to olfactory stimuli in the human neonate. J Comp Physiol Psychol.\u20081965;59:312\u2013316","DOI":"10.1037\/h0021820"},{"key":"2021120822545943600_R12","doi-asserted-by":"crossref","unstructured":"Berkowicz DA, Trombley PQ, Shepherd GM. Evidence for glutamate as the olfactory receptor cell neurotransmitter. J Neurophysiol.\u20081994;71:2557\u20132561","DOI":"10.1152\/jn.1994.71.6.2557"},{"key":"2021120822545943600_R13","doi-asserted-by":"crossref","unstructured":"Kratskin IL, Belluzzi O. Anatomy and neurochemistry of the olfactory bulb. In: Doty RL, ed. Handbook of Olfaction and Gustation. 2nd ed. New York, NY: Marcel Dekker;2003:139\u2013164","DOI":"10.1201\/9780203911457.ch7"},{"key":"2021120822545943600_R14","doi-asserted-by":"crossref","unstructured":"Berkowicz DA, Trombley PQ. Dopaminergic modulation at the olfactory nerve synapse. Brain Res.\u20082000;855:90\u201399","DOI":"10.1016\/S0006-8993(99)02342-2"},{"key":"2021120822545943600_R15","doi-asserted-by":"crossref","unstructured":"Hawkes CH, Shephard BC, Daniel SE. Is Parkinson's disease a primary olfactory disorder?Q J Med.\u20081999;92:473\u2013480","DOI":"10.1093\/qjmed\/92.8.473"},{"key":"2021120822545943600_R16","unstructured":"Malloy PF, Richardson E. Assessment of frontal lobe functions. In: Salloway SP, Malloy PF, Duffy JD, eds. The Frontal Lobes and Neuropsychiatric Illness. Washington, DC: American Psychiatric Publishing, Inc;2001:125\u2013137"},{"key":"2021120822545943600_R17","doi-asserted-by":"crossref","unstructured":"Rupp CI, Fleischhacker WW, Kemmler G, et al. Olfactory functions and volumetric measures of orbitofrontal and limbic regions in schizophrenia. Schizophr Res.\u20082005;74:149\u2013161","DOI":"10.1016\/j.schres.2004.07.010"},{"key":"2021120822545943600_R18","doi-asserted-by":"crossref","unstructured":"Seckinger RA, Goudsmit N, Coleman E, et al. Olfactory identification and WAIS-R performance in deficit and nondeficit schizophrenia. Schizophr Res.\u20082004;69:55\u201365","DOI":"10.1016\/S0920-9964(03)00124-5"},{"key":"2021120822545943600_R19","doi-asserted-by":"crossref","unstructured":"Minor KL, Wright BD, Park S. The Smell Identification Test as a measure of olfactory identification ability in schizophrenia and healthy populations: a Rasch psychometric study. J Abnorm Psychol.\u20082004;113:207\u2013216","DOI":"10.1037\/0021-843X.113.2.207"},{"key":"2021120822545943600_R20","doi-asserted-by":"crossref","unstructured":"Duncan HJ, Seiden AM. Long-term follow-up of olfactory loss secondary to head trauma and upper respiratory tract infection. Arch Otolaryngol Head Neck Surg.\u20081995;121:1183\u20131187","DOI":"10.1001\/archotol.1995.01890100087015"},{"key":"2021120822545943600_R21","doi-asserted-by":"crossref","unstructured":"Ghorbanian SN, Paradise JL, Doty RL. Odor perception in children in relation to nasal obstruction. Pediatrics.\u20081983;72:510\u2013516","DOI":"10.1542\/peds.72.4.510"},{"key":"2021120822545943600_R22","doi-asserted-by":"crossref","unstructured":"Chalouhi C, Faulcon P, Le Bihan C, Hertz-Pannier L, Bonfils P, Abadie V. Olfactory evaluation in children: application to the CHARGE syndrome. Pediatrics.\u20082005;116:81\u201388","DOI":"10.1542\/peds.2004-1970"},{"key":"2021120822545943600_R23","doi-asserted-by":"crossref","unstructured":"Gerdes M, Solot C, Wang PP, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet.\u20081999;85:127\u2013133","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<127::AID-AJMG6>3.0.CO;2-F"},{"key":"2021120822545943600_R24","doi-asserted-by":"crossref","unstructured":"Doty R. The University of Pennsylvania Smell Identification Test Administration Manual. Philadelphia, PA: Sensonics; 1983","DOI":"10.1037\/t21403-000"},{"key":"2021120822545943600_R25","doi-asserted-by":"crossref","unstructured":"Doty RL. Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function. Physiol Behav\u20081984;32:489\u2013502","DOI":"10.1016\/0031-9384(84)90269-5"},{"key":"2021120822545943600_R26","doi-asserted-by":"crossref","unstructured":"Sobin C, Monk SH, Kiley-Brabeck K, Khuri J, Karayiorgou M. Neuromotor defects in children with the 22q11 deletion syndrome. Mov Disord. 2006; in press.","DOI":"10.1002\/mds.21103"},{"key":"2021120822545943600_R27","doi-asserted-by":"crossref","unstructured":"Murphy KC, Jones RG, Griffiths E, Thompson PW, Owen MJ. Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability. Br J Psychiatry.\u20081998;172:180\u2013183","DOI":"10.1192\/bjp.172.2.180"},{"key":"2021120822545943600_R28","doi-asserted-by":"crossref","unstructured":"Anderson AK, Christoff K, Stappen I, et al. Dissociated neural representations of intensity and valence in human olfaction. Nat Neurosci.\u20082003;6:195\u2013202","DOI":"10.1038\/nn1001"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/3\/e697\/1073214\/zpe0090600e697.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/3\/e697\/1073214\/zpe0090600e697.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T23:59:32Z","timestamp":1707177572000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/118\/3\/e697\/69331\/Olfactory-Disorder-in-Children-With-22q11-Deletion"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,1]]},"references-count":28,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2006,9,1]]},"published-print":{"date-parts":[[2006,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2005-3114","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,1]]}}}