Objetivos: determinar o número de indivíduos com fissura labiopalatina não sindrômica (FLPNS) no núcleo familiar; determinar a presença de consanguinidade parental na presente casuística; descrever as eventuais anomalias menores observadas na amostra; e, estimar os riscos de recorrência familial para probando/filhos, nos diferentes grupos de fissura labiopalatina. Metodologia: O estudo retrospectivo e prospectivo constituiu uma amostra de 841 indivíduos, cadastrados no HRAC/USP. Os critérios mínimos para a inclusão foram: presença de FLPNS e existência de filhos (exceto os adotados) dos probandos. A amostra foi dividida em dois grupos, Grupo I: probandos com fissura de lábio com ou sem fissura de palato (FL+/-FP) e Grupo II: probandos com fissura de palato (FP). Resultados: Do total de 841 indivíduos, 660 (237M e 423F) constituíram o Grupo I e 181 (41M e 140F), o Grupo II. Consanguinidade parental foi observada em 2,2% dos indivíduos do Grupo I e, 0,6% do Grupo II. No Grupo I, 12,3% dos indivíduos apresentaram até duas anomalias menores e, no Grupo II, 21,0%; sendo hipoplasia de face média a anomalia menor mais frequente, em ambos os grupos. A frequência de recorrência familial (pai, mãe, irmãos do propósito), no Grupo I, foi de 14,0%, enquanto que, no Grupo II, de 11,0%. Já, em relação ao cálculo dos riscos de recorrência, determinou-se risco de 5,3% IC (Intervalo de confiança) a 95% (4,2% - 6,7%) para propósito(a)/filho(a) e de 4,3% IC 95% (2,6% - 6,8%) para o Grupo I e II, respectivamente, considerando-se risco para um casal com um dos progenitores afetados, independente do gênero do probando para o primeiro filho(a) afetado(a). Por outro lado, considerando-se o gênero dos probandos, no Grupo I, obteve-se risco de recorrência de 2,7% IC 95% (1,6% - 4,0%) para filho(a) de probando feminino e risco de recorrência de 6,2% com IC 95% (4,3% - 8,7%) para filho(a) de probando masculino e, no Grupo II observou-se risco de recorrência de 4,5% IC 95% (2,4% - 7,4%) para o primeiro filho(a) afetado(a) de probando feminino e risco de 3,9% com IC 95% (1,0% - 9,7%) para o primeiro filho(a) afetado(a) de probando masculino. Conclusões: O presente estudo mostrou que o valor do risco de recorrência encontrado no grupo de indivíduos com FL+/-FP foi similar ao do grupo com FP, sem identificação do gênero; o risco de recorrência probando/filho, no Grupo I, foi duas vezes maior para os probandos do gênero masculino do que para o feminino e, no Grupo II, os riscos de recorrência foram similares para probandos de ambos os gêneros. / Purposes: to determine the number of individuals with nonsyndromic cleft lip and palate (NSCLP) within the familial nucleus; to determine the presence of parental consanguinity in the sample; to describe the possible minor anomalies observed in the sample; and to estimate the recurrence risks for the proband\'s children in the different groups of cleft lip and palate. Methods: The retrospective and prospective study was based on a sample of 841 individuals, registered at the Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC/USP). The minimum criteria used for inclusion were: presence of NSCLP and the existence of biological children of the proband\'s. The sample was divided into two groups, Group I: proband\'s with cleft lip with or without cleft palate (CL+/-CP) and Group II: proband\'s with cleft palate (CP). Results: From the total of 841 individuals, 660 (237M and 423F) constituted Group I and 181 (41M and 140F), Group II. Parental consanguinity was observed in 2.2% of the individuals in Group I and in 0.6% in Group II. In Group I 12.3% of the individuals presented up to two minor anomalies and in Group II 21.0%; mid-face hypoplasia was the most frequent minor anomaly observed in both groups. The frequency of familial cases in Group I was 14.0%, while in Group II it was 11%. By estimation of the recurrence risk, a risk of 5.3% SR (statistical reliability) 95% (4.2% - 6.7%) and of 4.3% SR 95% (2.6% - 6.8%) was determined for the proband\'s child in Group I and II respectively, with one affected parent, independent of the proband\'s gender. On the other hand, considering the proband\'s gender, in Group I a recurrence risk of 2.7% SR 95% (1.6% - 4.0%) was obtained for the child of a female proband and a recurrence risk of 6,2% SR 95% (4.3% - 8.7%) for the child of a male probando. In Group II a recurrence risk of 4.5% SR 95% (2.4% - 7.4%) was observed for a female proband and a risk of 3.9% SR 95% (1.1% - 9.7%) for a male proband. Conclusion: The present study showed that the recurrence risk in the CL+/-CP group was similar when compared to the group with CP, without taking into account the gender of the proband; the recurrence risk, in Group I was twice as high a male proband as for a female proband, while in Group II the recurrence risk was similar for the proband\'s of either gender.

Objetivo: Descrever e analisar o processo de enfrentamento vivido por pais de indivíduos com fissura labiopalatina, nos seguintes períodos do desenvolvimento humano: por ocasião do nascimento, no início da educação formal e na adolescência. Modelo: estudo prospectivo que descreveu e comparou três grupos de pais de pacientes com fissura transforame em diferentes etapas do desenvolvimento. Local: Hospital de Reabilitação de Anomalias Craniofaciais – USP/Bauru. Participantes: 150 pais de pacientes com fissura transforame inciso divididos em três grupos: G1- 50 pais de pacientes com fissura transforame incisivo não operada na faixa etária de zero a dois anos; G2- 50 pais de pacientes com fissura transforame incisivo, na faixa etária de seis a oito anos; G3- 50 pais de pacientes com fissura transforame incisivo, na faixa etária de 12 à 15 anos. Intervenções: Protocolo de entrevista, abordando questões sobre a identificação dos participantes, os sentimentos experienciados, as atitudes de enfrentamento, redes de apoio utilizadas e a influência da presença do filho na família, nas relações conjugais e nos irmãos. Variáveis: Diferentes fases do desenvolvimento: ocasião do nascimento, período escolar e adolescência. Resultados/Conclusões: Os resultados obtidos nesse estudo mostram que há poucas diferenças nas formas de enfrentamento utilizadas por pais de crianças com fissuras transforame nos diferentes períodos de desenvolvimento estudados. Todavia, observou-se que o Grupo 1 está mais suscetível ao momento que estão vivendo, uma vez que apresentam mais sentimentos negativos com relação à condição da sua criança do que os participantes dos demais grupos. Como conseqüência, apresentam estratégias de enfrentamento do tipo negativo e individual, com desdobramentos nos efeitos sobre os outros filhos não fissurados. Os dados obtidos sugerem o investimento de ações junto aos pais, no início da sua história com seu filho fissurado, de forma a possibilitar um relacionamento familiar sadio. / Objective: To describe and analyze the coping process experienced by parents of individuals with cleft lip and palate, at the following periods of human development: birth, onset of school education and adolescence. Model: Retrospective study to describe and compare three groups of parents of patients with complete cleft lip and palate at different stages of development. Setting: Hospital for Rehabilitation of Craniofacial Anomalies – USP/Bauru. Participants: 150 parents of patients with complete cleft lip and palate divided into three groups: G1 - 50 parents of patients with unoperated complete cleft lip and palate aged 0 to 2 years; G2 - 50 parents of patients with complete cleft lip and palate aged 6 to 8 years; G3- 50 parents of patients with complete cleft lip and palate aged 12 to 15 years. Interventions: Interview protocol addressing questions on identification of participants, feelings experienced, coping attitudes, supporting networks used and the influence of presence of the child on the family, marital relationships and siblings. Variables: Different stages of development: birth, school age and adolescence. Results/Conclusions: The results achieved in the present study revealed few differences in the coping means used by parents of children with complete cleft lip and palate at the different developmental periods investigated. However, Group 1 was more susceptible to the period in which they are living, since they presented more negative feelings as to the condition of their child compared to the other groups. Consequently, they present negative and individual coping strategies, with effects on other non-cleft children. The data obtained suggest that the establishment of actions with the parents, since the onset of their story with their cleft child, would allow a healthy family relationship.

Objetivo: Desenvolver um instrumento de avaliação do desempenho psicossocial para pacientes com fissura labiopalatina. Modelo: O estudo engloba a pesquisa de campo sobre os aspectos psicossociais de pessoas com fissura labiopalatina. Local de Execução: Hospital de Reabilitação de Anomalias Craniofaciais (HRAC) USP. Participantes: Profissionais da Psicologia e do Serviço Social e demais membros da equipe de reabilitação do HRAC. Análise de prontuários do HRAC, Hospitais de alta complexidade do Brasil e exterior. Variáveis: relacionamento familiar, escolaridade, ocupação, relacionamento social, ajustamento emocional, satisfação com o tratamento e situação socioeconômica e saúde. Resultados: o instrumento proposto de avaliação do desempenho psicossocial foi elaborado, contando com 40 questões divididas em quatro domínios: físico, psicológico, relações sociais e meio ambiente. Conclusões: A partir da pesquisa bibliográfica, documental e de campo e da análise dos aspectos psicossociais relevantes, foi possível desenvolver o instrumento de avaliação do desempenho psicossocial para pacientes com fissura labiopalatina. / Objective: To develop an instrument for evaluation of the psychosocial performance of patients with cleft lip and palate. Design: Field study on the psychosocial aspects of individuals with cleft lip and palate. Setting: Reference cleft center Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) at University of São Paulo (USP). Participants: Psychologists, social workers and other members of the rehabilitation team of HRAC. Analysis of patients records of HRAC, high complexity hospitals in Brazil and abroad. Variables: Family relationship, educational level, occupation, social relationships, emotional adjustment, satisfaction with treatment, socioeconomic status and health. Results: The proposed instrument for evaluation of the psychosocial performance was developed with 40 questions divided in four domains: physical, psychological, social relations and environment. Conclusions: Based on the literature review, documental and field study and analysis of the relevant psychosocial aspects, it was possible to develop the instrument for evaluation of the psychosocial performance of patients with cleft lip and palate.

Among Filipinos of lower SES 1/500 babies are born yearly with an orofacial cleft. This is one of the highest birth prevalence of orofacial clefting in the world. The main purpose of this study was to obtain contextual information prior to planning for community based health interventions in the Philippines regarding orofacial clefting. A descriptive ethnography was used to describe working class Filipinos' (including healthcare workers') current beliefs about the causes, prevention, and treatment of orofacial clefting, and vitamin taking practices during pregnancy. Modifications of Kleinman's explanatory models were made to include questions about people's general and personal beliefs about cause and prevention of cleft. Innovative methods were developed and used in field research and included an oral back translation method and double translation process. Filipinos reported the following explanations for cause of cleft inheritance, falls, cravings, environmental exposures, and God's will. Beliefs about prevention of cleft included limiting their number of children, being careful not to fall, and avoiding environmental exposures. Filipinos seek surgical repair as treatment for their cleft. Iron was the supplement women reported taking most often during pregnancy. Female participants reported that feeling better, cost of multivitamin, side effects, and bad smell and taste were reasons why they quit taking micronutrients before they had completed the recommended course. This study is the first to construct a Filipino explanatory model specifically for clefting. In constructing Filipino's explanatory model for clefting we found that people's general causal explanations for cleft were not always congruent with personal causal explanations, and people's causal explanations for cleft were not always congruent with their prevention explanations. Modifying Kleinman's explanatory models to include questions about general and personal explanations for cause of illness and questions about prevention should be used to educe a more complete explanatory model. Results from this research can be used to inform the design of health campaigns and/or possible vitamin trials. These campaigns could include but are not limited to developing information brochures and programs about the cause and prevention of clefting, or developing public health campaigns to promote the use of prenatal vitamins in women of childbearing age.

Orofacial clefts are a group of congenital craniofacial deformities characterized by structural defects within and around the oral cavity. While some orofacial clefts are associated with an identifiable genetic or teratogenic syndrome, most are isolated or nonsyndromic. It has been well-documented that children born with nonsyndromic cleft lip and/or palate (NCL/P) are at-risk for poorer academic outcomes, especially within reading. Research into the cognitive functioning of patients with NCL/P has demonstrated that auditory-verbal memory and rapid naming are significant neuropsychological predictors of their lower reading achievement. Despite a solid compendium of research into the reading outcomes of those affected by NCL/P, very little research into the mathematical skills of this population exists. The current study examined whether the arithmetical computation skills of children, adolescents, and young adults with NCL/P differ significantly from healthy control participants. Comparisons of potential neuropsychological predictors of arithmetical computation were also conducted to determine whether these variables differ significantly for participants with NCL/P. Given the influence of language on both reading and mathematics and clear evidence of language impairments in individuals with NCL/P, it was hypothesized that arithmetical computation would be significantly lower for the NCL/P group. It was also hypothesized that the neuropsychological variables associated with lowered reading in NCL/P would be the strongest predictors of arithmetical computation. Results confirmed that arithmetical computation was significantly lower for the NCL/P group. Sustained attention, visual-spatial organization, auditory-verbal memory and rapid naming were significant predictors for the NCL/P group; rapid naming was the lone variable that was significantly more predictive of arithmetical computation for the NCL/P group than for control participants. These results suggest that inefficient verbal label retrieval related to short-term memory deficits underlie the computational difficulties of individuals with NCL/P. These findings have implications for approaches to remediation, as well as future research.

Thesis (M. Sc.)--University of Hong Kong, 2006. / Title proper from title frame. Also available in printed format.

No description available.

Thesis (Ph.D.) - University of Glasgow, 2005. / Includes articles from journals: International journal of paediatric dentistry, vol. 13, 2003, pp. 404-410 ; Cleft palate-craniofacial journal, vol. 41, no. 1, 2004 ; Cleft palate-craniofacial journal vol. 40, no. 5, 2003. Ph.D. thesis submitted to the Faculty of Medicine, University of Glasgow, 2005. Includes bibliographical references. Print version also available.

Thesis (M.S.W.)--University of Hong Kong, 1994. / Includes bibliographical references (leaves 94-102).

Dissertation (D.P.H.)--University of Michigan.