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Olfactory Deficits In Cleft Lip And Palate

May, Maureen A (2011) Olfactory Deficits In Cleft Lip And Palate. Master's Thesis, University of Pittsburgh. (Unpublished)

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Cleft lip with or without an associated cleft palate (CL/P) is one of the most common congenital birth defects. Both the frequency with which it occurs and the high psychosocial and financial costs associated with CL/P contribute to a significant public health interest in the condition. Defining the spectrum of disability associated with CL/P will serve to improve treatment planning and caregiver education and may inform efforts to describe the etiology of this complex trait. The principal aim of this project was to test the hypothesis that significant olfactory dysfunction exists in individuals with repaired orofacial clefts (OFCs; cleft lip, with or without cleft palate ((CL/P) and isolated cleft palate (CP)) and their first degree relatives (FDRs). Two small studies and anecdotal reports suggest impaired olfaction in individuals with OFCs, but this is the first investigation of the olfactory phenotype in both cases and relatives. Genetic, physiologic, and developmental features of individuals with OFCs provide plausible explanations for this poorly explored phenomenon. Methods: The widely used and extensively validated University of Pennsylvania Smell Identification Test (UPSIT) - a "scratch and sniff" 40 item odor discrimination test - was employed to describe olfactory ability in a sample of 12 subjects with non-syndromic CL/P or CP and 39 of their unaffected FDRs. Control data was obtained from published norms on over 2000 individuals. Standard non-parametric and categorical statistics were used to test for group differences in olfactory performance.Results: The likelihood of having a smell deficit was increased nearly fivefold in the cases (OR=4.94; 95% CI 1.56-15.65) compared with controls. Similarly, the likelihood of having a smell deficit was increased nearly fourfold in the FDRs (OR=3.87; 95% CI 1.99-7.52) compared with controls. Cases scored significantly lower on the UPSIT compared with their FDRs (p<0.043), indicating that the olfactory deficit was greater in cases. This study provides the first evidence of olfactory deficits in the FDRs of OFC cases and confirms the existence of olfactory deficits in OFC patients.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
May, Maureen
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee CoChairGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee CoChairWeinberg, Seth Msmwst46@pitt.eduSMWST46
Committee MemberBarmada, Mahmud Mbarmada@pitt.eduBARMADA
Committee MemberMarazita, Marymarazita@pitt.eduMARAZITA
Date: 29 June 2011
Date Type: Completion
Defense Date: 19 April 2011
Approval Date: 29 June 2011
Submission Date: 5 April 2011
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: genetic counseling; Kallmann Syndrome; subclinical phenotype
Other ID:, etd-04052011-102551
Date Deposited: 10 Nov 2011 19:34
Last Modified: 15 Nov 2016 13:38


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