Thesis (M.S.)--University of Wisconsin--Madison, 1968. / eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references.

Thesis (M.S.)--University of Wisconsin--Madison. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 101-106).

Thesis (B.Sc)--University of Hong Kong, 2002. / "A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, 10th May, 2002." Also available in print.

Thesis (Ph. D.)--University of Iowa, 2007. / Supervisor: Toni Tripp-Reimer. Includes bibliographical references (leaves 228-238).

Cleft lip and palate is a developmental abnormality which affects 1 in 500 live births resulting in considerable morbidity for the affected individual and their families and providing an economic burden to the state. Human mutations in TP63 have been shown to induce at least five developmental syndromes which are characterised by the presence of orofacial clefting, malformed limbs and defects in ectoderm-derived tissues. Mouse models of Trp63 knockout display phenotypes similar to the clinical manifestation of TP63 human mutations. To date the majority of orofacial P63-related research has focussed on secondary palate development, as such the role of P63 during upper lip development remains poorly characterised. Upper lip development is similar between mouse and human. The medial nasal, lateral nasal and maxillary processes form as outgrowths of the frontonasal prominence. Directed growth of the facial processes results in their epithelial contact and adhesion. At the site of epithelial contact a double epithelial seam is formed, which must be degenerated to allow mesenchymal confluence across the upper lip. Trp63 has been shown to be expressed within the epithelia of the facial processes throughout upper lip development, with expression detected during process outgrowth, contact and adhesion. Down-regulation of Trp63 expression within the epithelial seams is followed by seam degeneration and upper lip fusion. Furthermore, the cleft lip and palate phenotype of TP63-related conditions suggests P63 plays a key role in upper lip morphogenesis. Previous studies have identified P63 target genes using high throughput methods. However, P63 functions in a tissue specific manner and so the applicability of these studies to upper lip development is hampered by their choice of model tissue. The aim of this study was therefore to identify targets of P63-regulation in upper lip development using stage appropriate tissue. High throughput methods were used to identify sites of P63 binding and genes misregulated in Trp63-/- mouse facial processes. Via characterisation of putative target genes a novel role for P63 in the regulation of Wnt and Fgf signalling during upper lip morphogenesis was identified. It is therefore suggested that during upper lip morphogenesis P63 regulates the expression of multiple members of the Wnt and Fgf signalling family to maintain the proliferative and differentiation potential of the facial processes. Furthermore regulation of Wnt and Fgf signalling provides a mechanism by which P63 may regulate epithelial to mesenchymal signalling. This project has identified potential novel targets of P63 regulation during upper lip development, in addition to providing a novel mechanism of P63 regulation of wider relevance to the embryological development of multiple tissues.

No description available.

A descriptive study was undertaken on mothers who have children with non-syndromic cleft lip and palate. It involved 42 mothers from one public and one private hospital in Johannesburg during the period starting January 2009 and finishing in December 2009. A self-administered questionnaire was used to determine the Impact on the Quality of Life exerted by these children on their mother’s lives. The majority of the mothers in the study are African or White, comprising 11 African, 17 White, seven Indian and four Coloured mothers. Thirty-five (35) were married, one was single, and five chose not to respond. Twenty-one (21) of the mothers interviewed had high school education and 19 tertiary education. Thirty-one (31) were employed; seven unemployed and two gave no response. Sixty-five percent (65%) of the children are male and 35% are female of whom 48.8% were diagnosed prenatally and 51.2% postnatally. Only forty-seven percent (47%) of participants received adequate counselling during prenatal and postnatal care while 53% did not. Seventy-eight percent (78%) of the women in the study said they would attend prenatal care for their subsequent children. Impact on Family Scale This study examined the difference in quality of life for the family after the birth of the affected child as compared to before the birth assuming that parents lived a near normal life before the birth of their child. It can be seen that the majority of the women identified the following five items: being overtired and exhausted; managing to cope with the condition; family becoming closer as a result of the illness; partners analysing problems together; and treating the child as normally as possible as affecting their quality of life. There is no significant difference in most of the items across the four races. That is, African, White, Indian and Coloured mothers assessed the items similarly, except when considering the question of additional income being required to cover medical expenses: here African and Coloured mothers found that more income was required to cover medical expenses while Indian and White mothers disagreed. When comparing the relationship between the level of education of mothers and the impact on the family there is a similar trend as regards race. There is no significant difference in the items between the two levels of education, except for the need to reduce time spent at work to care for the sick child, and travelling to hospital which both add to the mental and a physical strain. Mothers with a tertiary education found that this was not a problem; however those with a high school education found that it impacted badly on their lives. Most parents said they would have preferred an antenatal diagnosis and adequate counselling prior to the birth as well as post-delivery, and they will access this service for subsequent children. The research highlights important factors affecting parents whose children have cleft lip and palate. Among the most important of these are that a prenatal diagnosis is preferred in most cases, also that counselling—both in the prenatal and postnatal period—plays a vital part in managing the sick infant. Other important findings highlighted were that mothers with a tertiary education had lower-impact scores than mothers with a high school education; also that families found themselves drawn together and helping one another manage circumstances better.

Objective: This study explored the effectiveness of a parent-implemented, focused stimulation program on the speech characteristics of children younger than 3 years with cleft lip and palate. The research questions included the following: (1) Can parents be trained to deliver an early intervention (EI) program for children with cleft palate? (2) Does a parent-implemented EI program result in positive changes in speech characteristics? Participants: Ten mother-child pairs in which the child had cleft lip and palate (CLP) and 10 mother-child pairs in which the child did not have a cleft (NCLP). The children ranged in age from 14 to 36 months of age and were matched between the CLP and the NCLP groups for vocabulary size, age, and socioeconomic status. Main Outcome Measures: Group differences (CLP and the NCLP) for preintervention and postintervention language and speech measures were compared. Results: The results of this study showed that the mothers could be trained to deliver the intervention reliably. Furthermore, the results indicated that the intervention resulted in increased sound inventories, increased speech accuracy, and reduced use of glottal stops for the children with clefts. Conclusions: While the intervention resulted in speech gains for the children with clefts, speech measures did not exceed those made by the children without clefts. The results of the study have implications for service delivery models where the services of speech-language pathologists are limited.

No description available.

No description available.