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.

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.

Thesis (B.Sc)--University of Hong Kong, 1994. / "A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, April 29, 1994." Also available in print.

Clinical and epidemiologic studies of defined geographic populations can serve as a means of establishing data important for genetic counseling and as a first step in identifying strategies best suited for identification of causes. Under the sponsorship of Operation Smile International, clinical, genetic, and epidemiologic studies were carried out at six sites within the Philippines between 1989 and 1996. Patients who were being evaluated for surgical repair of craniofacial anomalies (primarily clefts of the lip and palate) were briefly examined for the presence of associated anomalies, and a family history was obtained to look for the frequency of cleft lip and palate in siblings. Birth records of 47,969 newborns born over an 8-year period at one hospital in Bacolod City in the province of Negros Occidental were reviewed. Medical records of infants born with clefts of the lip and/or palate and other major anomalies were reviewed and birth prevalence rates calculated. Findings include a birth prevalence of 1.94 per 1000 live births for cleft lip with/without palate in the Philippines. Recurrence rates in siblings for nonsyndromic clefts of the lip and palate were 23 per 1000 for cleft lip with or without cleft palate, and 14 per 1000 for cleft palate only. The percentage of clefts associated with multiple anomalies was 21% at birth and 6% for individuals examined during the screening process, providing evidence for a high postnatal death rate. These data provide groundwork for additional etiologic studies including segregation analysis and molecular genetic studies involving linkage or association, as well as for studies of environmental contributions to clefting such as vitamin deficiencies. Preliminary molecular analysis using an association approach is reported in a companion paper. The findings suggest a high incidence of cleft lip and palate in native-born Filipinos.

The relationship between play gesture performance and language milestones was examined for 6 children with cleft lip and/or palate at 20, 24, and 30 months of age. Standardized measures of language development, language samples, and a play gesture protocol were administered and analyzed at each assessment. Results showed language delays for several of the children with cleft palate and displayed a complex relationship between play and language development. The results show parallels between single object use and vocabulary development as well as sequential play gestures and structural aspects of language use. Data from this study demonstrated slow play gesture and language development for children with cleft palate only.

The purpose of this study was to compare early speech and language development of children with and without cleft lip and/or palate (CLP) in the US and Slovakia from 6 to 24 months of age. Thirty-two children from the US (eight with CLP and eight noncleft) and Slovakia (eight with CLP and eight noncleft) participated in this study. The children were videotaped at four time points for 30 minutes during mother-child interaction with play sets controlled for early-developing sounds in each language. Mean Babbling Level, consonant inventories, number of different words and mean length of utterance were calculated for 6-to 24-month samples. Results indicated that the US and Slovak groups showed similar performance across the ages. Cleft and noncleft groups showed significant differences in acquisition of all of the speech and language measures. High-pressure consonants, particularly alveolar place of articulation, were problematic for children with CLP.

The purpose of this study was to compare early speech and language development of children with and without cleft lip and/or palate (CLP) in the US and Slovakia from 6 to 24 months of age. Thirty-two children from the US (eight with CLP and eight noncleft) and Slovakia (eight with CLP and eight noncleft) participated in this study. The children were videotaped at four time points for 30 minutes during mother-child interaction with play sets controlled for early-developing sounds in each language. Mean Babbling Level, consonant inventories, number of different words and mean length of utterance were calculated for 6-to 24-month samples. Results indicated that the US and Slovak groups showed similar performance across the ages. Cleft and noncleft groups showed significant differences in acquisition of all of the speech and language measures. High-pressure consonants, particularly alveolar place of articulation, were problematic for children with CLP.

Clefts of the lip and palate are one of the most frequently occurring birth defects, affecting approximately 1 in 700 births in the United States. Early childhood special educators are often among the first professionals to provide intervention for children with cleft lip and palate. Early intervention for children with clefts often focuses on speech production skills; however, results of recent research suggest that early intervention in language skills including parent training is warranted. A model of early intervention that uses language intervention to facilitate vocabulary and speech sound development is described. This model has been successful in improving productive vocabulary use and speech sound repertoires and shows promising reduction in compensatory articulation errors. Developmentally appropriate application of the model includes provision of direct intervention to children and parent training to promote naturalistic intervention in everyday settings. Strategies for working collaboratively with speech-language pathologists and members of cleft palate and craniofacial multidisciplinary teams are also described. Finally, answers are provided to frequently occurring questions from parents about cleft palate.

Indiana University-Purdue University Indianapolis (IUPUI)

Indiana University-Purdue University Indianapolis (IUPUI) / This study investigated familial cases of cleft lip with or without cleft palate to determine whether the unaffected members of each family can be identified as gene carriers for the cleft trait. This research presumes that such carriers will have henotypic features identifiable by cephalometric analysis that are associated with an increased risk to cleft offspring. Using population genetics methodology, a pedigree analysis was made for each family member was assigned to one of four groups: (1) obligate normal, (2) affected, (3) carrier, and (4) unknown. LA and PA cephalographs were taken on each subject and a clinical oral-facial examination carried out on participating family members. Various anatomic landmarks located on the LA and PA films were digitized and from them, a total of 28 linear measurements were made. To eliminate the effect of sex and differential age responses, Z scores were calculated. Through univariate analysis, only one variable, NCR-MO, was shown to be significantly different between the two groups. This variable difference by itself is not adequate to differentiate those in the normal group from the carrier group. Even though only one variable was significant, other differences in the variables between these groups become obvious when the group variables were plotted as Z scores. Since Z scores are pure values with no limits (2--the number of standard deviations in a given variable differs from normal). Thereby, age-related growth differences were minimized. Further information is gained when these Z scores are plotted as pattern profiles, Figures 5-7. These profiles of mean Z scores for each variable pointed out areas of the face in which the differences were so great that specific anatomic areas appeared to be associated with one of the four groups. For example, gene carriers demonstrated specific alterations in facial height that might conceivably be used to discriminate that group from the other three groups. The family normals and carriers were then analyzed by using a stepwise multivariate analysis. By this approach, a discriminant function was generated consisting of six variables (three each from the lateral and frontal headplates), which proved to be significant in distinguishing an individual's phenotype. These variables define facial height, width and depth. The specific findings included a decrease in mid-facial height and depth along with an increased lower facial height and width in the gene carrier population as compared to the normals. The function then was used to predict group membership of the same two groups. Comparing this analytical prediction to that of the grouping system that resulted from the pedigree analysis, all but one individual was classified correctly in both the normal and carrier population. A discriminant score was also determined for the unknown population of family members which were defined as non-cleft blood relatives of cleft probands. Thus, they were a mixture of two types--those unaffected who carried a genetic liability for producing a cleft child and those unaffected who did not. A prediction of their placement into either the normal or carrier group was made with the discriminate function. One-third were classed in the normal group and two-thirds as gene carriers. The results of this study confirm that the phenotype of these unaffected family members designated as obligate gene carriers differs significantly from that of the family normals. This information is not only quite useful for genetic counselling but gives both a better understanding or the genetic control of clefting and can lead to molecular research to identify the specific gene in question.