Thesis (B.Sc)--University of Hong Kong, 2005. / "A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, June 30, 2005." Also available in print.

Thesis (MSc(R)) - University of Glasgow, 2008. / MSc(R) submitted to the University of Glasgow Faculty of Medicine, Glasgow Dental School, 2008. Includes bibliographical references. Print version also available.

Thesis (M. Sc.)--University of Hong Kong, 2000. / Includes bibliographical references (leaves 48-53).

Thesis (B.Sc)--University of Hong Kong, 2001. / "A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, May 4, 2001." Also available in print.

The incidence of cleft palate was observed in 1361 F₁, 1531 F₂, and 2275 backcross embryos and chicks from a reciprocal cross between an inbred Leghorn line selected for high incidence (30 to 50%) of cleft palate and a non-cleft palate (New Hampshire; zero %) line. Cleft palate appeared in the F₁ at frequencies less than 1%, in the F₂ at approximately 1%, and in the backcrosses at approximately 8%. When dams were fed a diet deficient in riboflavin, the incidence of cleft palate was shown to increase for the F₂ and backcross progeny to 4% and 12% respectively. The response of cleft palate incidence to riboflavin deficiency was shown to be in large part a genetic characteristic of the embryo itself and not the dam. The reduced hatchability of eggs during maternal riboflavin deficiency was shown to be similar to earlier reports. No evidence of any unusual response of cleft palate line hens to riboflavin deficiency was found for hatchability, chick body weight, nor maternal effect on cleft palate. The cleft palate condition was shown to be semi-lethal, the lethality being partially due to severe expression of the trait. Genetic models were considered and it was suggested that the model to be further tested should be that of 3 recessive loci, one of which involves a fault in the normal metabolism of riboflavin, and a few additive loci controlling penetrance and expressivity of the trait. / Land and Food Systems, Faculty of / Graduate

Indiana University-Purdue University Indianapolis (IUPUI) / Isolated cleft palate is one of the most frequent congenital conditions that affect the oral and facial structures, yet its etiology remains obscure. Previous studies of both cleft palate (CP) and cleft lip and/ or palate [CL(P)] have shown that there may be unusual facial characteristics among the parents of such sporadic cases. Such findings have been used to support the possibility that there are predisposing familial (genetic) factors for both conditions. However, previous studies have generally not controlled for the possibility of genetic heterogeneity or for different contributions from each of the parents. The objective of this study is to examine parents of individuals with CP in order to test the hypothesis that these "non cleft" individuals have abnormal facial structures. Lateral (LA) and Posterior-Anterior (PA) cephalograms were examined from thirty parents of fifteen individuals with sporadic CP. Seventeen LA and twenty-five PA variables were obtained on each subject and converted to standardized "z-scores" through comparison to published age and sex matched reference data. Multivariate cluster analysis was used to define groupings of individuals who shared similar patterns of facial features. Results demonstrate that as a group, relatives of CP individuals show significantly different patterns of facial measurements compared to reference norms. Values significantly larger (p < 0.05) fro1n parental data included: ANS-Me, PNS-ANS, S-N-Pg, Ar-Go-Me, MoL-MoR, NSR-NCR. Values significantly smaller (p < 0.05) from parents included: N-ANS, S-Ba, PNS-ANS/ N-ANS, PNS-ANS/ N-Pg, N-S-Ba, ZyL-ZyR, GoL-GoR, GoNL-GoNR, CRO-CNS, CNS-SD, CNS-Me, ID-Me, MxR-ZyR, Me-GoR. These findings were not entirely consistent with those few previously reported findings. Additional analysis of the present data demonstrated that such inconsistencies may be due in part to the presence of distinct phenotypic sub groupings within the parental sample. Cluster analysis identified two such subgroups. Significant findings (p < 0.05) that were smaller for Cluster 1 relative to Cluster 2 included: N-Me, ANS-Me, S-Go, PNS-ANS, Ar-Go, CNS-SD, MxR-ZyR. Significant variables that were larger for Cluster 1 included: S-N-Pg. In addition, gender was significantly different across clusters with Cluster 1 containing 75 percent female individuals and Cluster 2 containing 67 percent male individuals. These results extend those reported in other studies by demonstrating that unusual facial patterns, when present are not uniformly distributed in parents of sporadic cases of CP. Phenotypic assessment in conjunction with multivariate analysis may help to identify families in which there is a significant heritable component for CP.

No description available.

No description available.

Background: Cleft lip and/or palate (CL/P) is the most common congenital craniofacial anomaly, which may negatively impact one’s appearance, health-related quality of life, and facial function. The course of treatment is intensive and multifaceted. Patients with CL/P can undergo numerous procedures, with the goal of improving their appearance or facial function. To assess the outcomes of treatment in patients, a well-developed, valid, and reliable patient-reported outcome instrument is required. The CLEFT-Q is a new patient-reported outcome instrument developed to evaluate outcomes of treatment in patients aged 8 to 29 years with cleft lip and/or palate. The purpose of this thesis was to establish content validity and transferability of the CLEFT-Q. Methods: Study 1 of this thesis presents findings from cognitive interviews with patients and expert feedback. Patients aged between 6 and 29 years were recruited from 6 plastic surgery clinics. Healthcare providers and experts from 8 countries participated in a focus group or provided individual feedback. Input was sought on all aspects of the CLEFT-Q development, including item wording, instructions, response options, and to identify missing content. Studies 2 and 3 present findings from the translation and cultural adaptation of the CLEFT-Q to evaluate its transferability. Guidelines set forth by the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) were applied. Results: Study 1 involved 69 patients and 44 experts who reviewed the CLEFT-Q. The first draft of the CLEFT-Q consisted of 163 items measuring 12 constructs. Three rounds of interviews and expert feedback were needed to establish content validity. At the completion of the cognitive interviews and expert review, the CLEFT-Q comprised 171 items within 13 scales that measure appearance (of the face, nose, nostrils, teeth, lips, jaws, cleft lip scar), health-related quality of life (psychological, social, school, speech-related distress), and facial function (speech, eating/drinking). Studies 2 and 3 involved the translation and cultural adaptation of the CLEFT-Q from English to 6 different languages including Arabic, Catalan, Dutch, Hindi, Swedish, Turkish, and 3 Spanish language varieties (Colombian, Chilean, and Spain). A total of 18 (12%), 18 (12%), 7 (5%), and 4 (3%) items were difficult to translate during the forward translations for the Arabic, Swedish, Dutch, and Hindi versions respectively. Among the Spanish varieties (study 3) only 10 (7%) items were difficult to translate into Chilean. Comparison of the back translation to the source language version of the CLEFT-Q identified that the meaning of 40 (26%), 17 (11%), 9 (6%), and 5 (3%) items in the Turkish, Arabic, Hindi, and Swedish translations respectively had changed and required re-translation, and none were changed for the Dutch translation in study 2. Similarly, in study 3, back translations identified 23 (15%), 21 (13%), 12 (8%), and 10 (6%) items in the Colombian, Catalan, Chilean, and Spanish (Spain) versions respectively whose meanings were changed. Study 2 cognitive debriefing interview participants were mostly below 20 years of age (n= 36, 88%) with CL/P (n=30, 73%). Participants in study 3 were primarily male (n=14, 67%) diagnosed with CL/P (n=17, 81%). Overall, participants in the cognitive debriefing interviews described the CLEFT-Q as understandable and easy to complete. Conclusion: This thesis presents evidence of the CLEFT-Q’s content validity and transferability. After the completion of study 1, no changes were required to the original CLEFT-Q conceptual framework; however, cognitive interviews and expert review allowed us to identify items that required re-wording, re-conceptualizing, to removal, or addition. Finally, the process of translating and culturally adapting the CLEFT-Q in studies 2 and 3 was useful for finalizing the CLEFT-Q scales, and provided evidence of its transferability to other contexts. / Thesis / Doctor of Philosophy (PhD) / Background: Treatment of cleft lip and/or palate (CL/P) is intensive and involves multiple procedures to improve ones appearance or facial function. To assess outcomes of treatment in patients with CL/P, a well-developed, valid, and reliable patient-reported outcome instrument is required. The purpose of this thesis was to establish content validity and transferability of the CLEFT-Q. Methods: Cognitive interviews with patients and expert feedback were obtained in Study 1. Input was sought on the CLEFT-Q item wording, instructions, response options, and to identify missing content. Studies 2 and 3 involved the translation and cultural adaptation of the CLEFT-Q to evaluate its transferability. Results: Three rounds of cognitive interviews with patients and expert feedback were needed to establish content validity of the CLEFT-Q in study 1. Studies 2 and 3 involved the translation and cultural adaptation of the CLEFT-Q from English to 6 different languages including Arabic, Catalan, Dutch, Hindi, Swedish, Turkish, and 3 Spanish language varieties (Colombian, Chilean, and Spain). Translation and cultural adaptation processes provided evidence of the CLEFT-Qs transferability. Conclusion: This thesis presents evidence of the CLEFT-Q’s content validity and transferability.

Objetivo: Contribuir para a ampliação do conhecimento das fissuras orais, descrevendo, sob o aspecto genético-clínico, uma amostra de indivíduos com fissura pré-forame incisivo uni/bilateral incompleta e fissura pós-forame incisivo associadas. Casuística e metodologia: Foram selecionados 356 indivíduos com fissura pré-forame incisivo uni/bilateral incompleta, sem acometimento do arco alveolar, associada à fissura pós-forame incisivo, cadastrados e em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Dados de razão sexual, idade parental na época da concepção, consanguinidade parental, recorrência familial, lateralidade da fissura e presença de anomalias associadas à fissura foram investigados. Para análise dos resultados foram destacados dois grupos (Grupos I e Grupo II) da amostra total. No Grupo I foram incluídos os indivíduos que apresentaram fissura pré-forame incisivo cicatricial, independentemente do tipo de acometimento pós-forame. Indivíduos do Grupo I, que, além de apresentarem fissura pré-forame incisivo cicatricial apresentaram também algum tipo de microforma de fissura pós-forame incisivo, foram destacados para formarem também o Grupo II. Testes estatísticos de comparação foram realizados entre os Grupos e o restante da amostra e entre a amostra total e dados da literatura pertinente. Resultados e Discussão: Observou-se diferença estatisticamente significativa entre a amostra total e os dados da literatura em relação à lateralidade da fissura, razão sexual, consanguinidade, recorrência familial e presença de anomalias associadas. Observou-se, ainda, diferença estatisticamente significativa entre o Grupo II e o restante da amostra total quanto à idade paterna e, entre os Grupos I e II e a amostra total, em relação à ocorrência de múltiplas anomalias associadas à fissura. A amostra estudada apresentou, em geral, as mesmas características genético-clínicas do grupo das fissuras pré e transforame incisivo (FL/P). As diferenças encontradas não permitiram afirmar a distinção da fissura pré-forame associada à fissura pós-forame incisivo, sem acometimento do arco alveolar (FL+FP) das FL/P. Da mesma forma não foi possível afirmar, pelos resultados obtidos, que os Grupos I e II eram distintos da amostra total. Conclusão: Embora não se possa afirmar que FL+FP seja distinta das FL/P, suas características peculiares apontam para essa diferenciação. Os indivíduos com quadros de microformas de fissura constituem um grupo alvo de investigações sobre possíveis mecanismos genéticos que levam à gravidade variável dessas malformações. / Purpose: To contribute to the expansion of knowledge about oral clefts, describing the clinical and genetic aspect of a sample of individuals with cleft lip associated with cleft palate, without alveolar arch involvement, showing or not other abnormalities. Patients and methods: We selected 356 patients with incomplete cleft lip uni/bilateral associated with cleft palate, without alveolar arch involvement, registered and in treatment at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Data for sexual ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of cleft and presence of associated anomalies were investigated. Regarding the analysis of the results two groups were detached (Group I and Group II) from the total sample. In Group I it was included individuals who had healed cleft lip, regardless of the type of palate involvement. Individuals in Group I, which, besides having had healed cleft lip also had some type of microform cleft palate were also detached to form Group II. Statistical tests were performed for comparison between groups and remainder of the sample, and between the total sample and literature data. Results and Discussion: There was a statistically significant difference between the total sample and literature data regarding laterality of the cleft, sexual ratio, consanguinity, familial recurrence and presence of associated anomalies. There was also a statistically significant difference between Group II and the remainder of the sample regarding paternal age, and between Groups I and II and the total sample in relation to the occurrence of multiple anomalies associated with cleft. The sample has, in general, the same genetic and clinical characteristics of the group of cleft lip with or without cleft palate (CL/P). The differences did not allow distinction between cleft lip associated cleft palate without involvement of the alveolar arch (CL+CP) and CL/P. Likewise it is not possible to affirm, from the results obtained, that Groups I and II are distinct from the total sample. Conclusion: Although we can not say that CL+CP is distinct from the CL/P, its peculiar features indicate to this differentiation. Individuals with microforms of cleft constitute a target group for research on possible genetic mechanisms that lead to varying severity of these malformations.