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Evidence of Olfactory Deficits in Isolated Orofacial Clefting

Gopalaswamy, Sindhu (2019) Evidence of Olfactory Deficits in Isolated Orofacial Clefting. Master's Thesis, University of Pittsburgh. (Unpublished)

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Orofacial clefting is one of the most common congenital malformations with a high morbidity and mortality rates. Clefts have a complex etiology and a wide range of phenotypic expression and subclinical features associated with it. Subclinical features occur at a higher rate in the unaffected first-degree relatives of the affected cleft patients compared to the normal population. Few examples of subclinical features include orbicularis oris muscle defects, facial dysmorphology, dermatoglyphic patterns. These subclinical features may represent an incomplete phenotypic expression. Identification of such traits in the families can help in understanding the genetic etiology. Reduced olfaction has been seen in patients affected with orofacial clefting and their unaffected relatives. However, it is not known whether these deficits were present in affected subjects and their families with different cleft types.
The aim of this study is to investigate the prevalence of olfactory deficits in cases with different types of orofacial clefting (Cleft lip CL, cleft of the lip with or without palatal involvement CL/P, and cleft palate CP) and their unaffected first-degree relatives.
The University of Pennsylvania Smell identification test (UPSIT) was administered to 32 cases and 100 unaffected relatives. 447 people served as controls who had no history of orofacial clefting. The data was obtained from the larger Pittsburgh Orofacial Cleft Cohort. Only White, Non-Hispanic and subjects between the ages 10 and 59 years were included in the study. Exclusion criteria was based on nasal congestion, loss of smell due to trauma, depression (major and current depression), anti-depressants (Rolipram, Clomipramine, and Citalopram).
Chi-square test and Fishers exact test was used for categorical outcomes. Non parametric tests such as Shapiro Wilk and Mann Whitney test were used for quantitative scores. These tests were used to compare olfactory performance across groups.
There is a significant difference in the olfactory deficits between the cases and controls (p-value: 0.00004). There is a significant different in the different types of cleft among the cases (p- value: 0.0002 for CL, 4.41E-07 for CL/P, 0.002 for CP). There is a prevalence of olfactory deficits among the unaffected relatives belonging to the CL/P family type (p-value 0.03).


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Gopalaswamy, SindhuSIG24@pitt.eduSIG24
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairWeinberg, Seth Msmwst46@pitt.eduSMWST46
Committee MemberMarazita, MLmarazita@pitt.eduMARAZITA
Committee MemberShaffer, JRjohn.r.shaffer@pitt.eduJRS51
Date: 23 April 2019
Date Type: Publication
Defense Date: 28 March 2019
Approval Date: 23 April 2019
Submission Date: 19 April 2019
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 56
Institution: University of Pittsburgh
Schools and Programs: School of Dental Medicine > Dental Science
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Smell, birth defect, congenital condition, subclinical phenotype
Date Deposited: 23 Apr 2019 17:05
Last Modified: 23 Apr 2019 17:05


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