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.

A Fissura Labiopalatina é uma doença multifatorial que tem interferência sobre a qualidade da alimentação da criança, visto que na maioria das vezes os pacientes têm dificuldades de mastigação e deglutição. O zinco está envolvido em diversos processos fisiológicos, tem importante relação com mecanismos antioxidantes, imunitários, replicação celular e de transcrição protéica. De acordo com a Organização Mundial de Saúde, o zinco é o micronutriente mais importante para o desenvolvimento corporal e cognitivo da criança. Considerando a interferência da Fissura Labiopalatina sobre a qualidade da alimentação, e a importância do zinco para o desenvolvimento da criança, este estudo se propôs a avaliar o estado nutricional relativo ao zinco de crianças de 6 a 10 anos com Fissura Labiopalatina atendidas no Centro de Atendimento Integrado ao Fissurado Labiopalatino de Curitiba - PR. Foram dosadas as concentrações de zinco plasmático, eritrocitário e urinário. A quantidade de zinco dietético foi avaliada por meio dos métodos de recordatório de 24h e três registros alimentares. Foram avaliados peso e estatura, como dados antropométricos, e comparados ao escore Z. O estudo foi do tipo casocontrole. A concentração média de zinco plasmático, eritrocitário e urinário no grupo caso foi de 83,4µgZn/dL, 32,6µgZn/gHb e 141,4µgZn/24h, respectivamente. A concentração média de zinco plasmático, eritrocitário e urinário do grupo controle foi de 100,2µgZn/dL, 34,7µgZn/gHb e 373,4µgZn/24h, respectivamente. Considerando os parâmetros analisados observou-se deficiência de zinco em ambos os grupos, principalmente considerando as concentrações de zinco no eritrócito e a excreção urinária para o grupo caso. No grupo controle as crianças estavam deficientes para zinco plasmático e eritrocitário 8% e 84% respectivamente. No grupo caso as crianças estavam deficientes para zinco plasmático, eritrocitário e urinário em 15%, 92% e 100%. Assim, pode-se concluir que as crianças com fissura labiopalatina estão mais sujeitas às deficiências nutricionais como o caso do zinco assim demonstrado neste estudo. / Lip and palate cleft are a multifactorial disease that has interference on the quality of children\'s nutrition, as most of the time patients have difficulty chewing and swallowing. Zinc is involved in several physiological processes, has an important relationship to antioxidant mechanisms, immune, cellular replication and transcription protein. According to World Health Organization, zinc is the most important micronutrient for body growth and cognitive development. Considering the interference of Cleft on the quality of food, and the importance of zinc for the child\'s development, this study was to assess the nutritional status of zinc in children aged 6 to 10 years treated at the Lip and Palate Cleft Integrated Center of Curitiba - PR. Were measured concentrations of plasma zinc, erythrocyte and urine. The amount of dietary zinc was assessed using the methods of three 24-hour recall and feeding records. Weight and height were evaluated as anthropometric data, and compared to the Z score. The study was a case-control study. The average concentration of plasma zinc, erythrocyte and urine in the case group was 83.4 µgZn/dL, 32.6 µgZn/gHb and 141,4 µgZn/24h, respectively. The average concentration of plasma zinc, erythrocyte and urinary control group was 100.2 µgZn/dL, 34.7 µgZn/gHb and 373,4 µgZn/24h respectively. Considering the parameters evaluated, we observed zinc deficiency in both groups, especially considering the zinc concentrations in erythrocytes and the urinary excretion for the group case. In the control group were zinc deficient plasma and erythrocyte 8% and 84%. In the case group were zinc deficient plasma, erythrocyte and urinary 15%, 92% and 100%. In conclusion, children aged 6 to 10 years are under risk of zinc deficiency. Whereas, children with lip and palate cleft are under higher risk of zinc deficiency comparing to control group.

Abstract The aim of this study was to define distinct craniofacial features in subjects with nonsyndromic cleft lip and palate (CLP) and in subjects with Turner syndrome (TS), and to evaluate the resemblance of these features among their family members. This might help in elucidating if there is a parental contribution to possible predisposing craniofacial features in cleft subjects and to the severity of certain distinct craniofacial features in subjects with X chromosome monosomy. The study population consisted of 29 Costa Rican CLP families including unaffected parents and siblings, and of 71 TS (45,X) subjects and members of their families. Based on lateral and frontal cephalometric analyses, cleft family members were characterized by reduced cranial height and head width, greater interorbital and nasal cavity widths, shorter anterior cranial base and palatal lengths, and shorter total face height compared to control values. With respect to these distinct craniofacial features, there were statistically significant associations in anterior cranial base and palatal length, and head, forehead and outer interorbital width measurements between parents and their children with CLP. The sidedness of the cleft in affected children was related to the asymmetry of the nasal cavity width in their parents. The distinct craniofacial features of the TS subjects, such as short clivus, retrognathic position of mandible, and narrow maxilla at the level of first premolars were related to their mothers' corresponding features. The presence of lateral palatine ridges, which were detected in one third of the TS subjects, was related to the narrowness of the posterior palate rather than to the variation in the tongue position. Distinct craniofacial features segregate in cleft family members. The several significant associations in distinct craniofacial dimensions between parents and children with CLP emphasize the importance of genetic factors in the genesis of nonsyndromic orofacial clefting. The present results support the concept that maternal factors contribute to the degree of deficiency in the growth of the cranial base and to the magnitude of mandibular retrognathism of their daughters with TS. Maternal influences may also modify the width of the palate in TS.

Orientadores: Ricardo Della Coletta, Hercilio Martelli Junior / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-08-27T01:12:26Z (GMT). No. of bitstreams: 1 Machado_RenatoAssis_M.pdf: 2319116 bytes, checksum: 2480e205308914fde4162ec2f1c7c657 (MD5) Previous issue date: 2015 / Resumo: O desenvolvimento craniofacial envolve uma série de eventos altamente coordenados e variações polimórficas nos genes que controlam estes eventos podem afetar a morfogênese labial e palatina, resultando nas fissuras do lábio e/ou palato não-sindrômicas (FL/PNS). O objetivo do presente estudo foi verificar a associação dos polimorfismos em genes relacionados ao desenvolvimento craniofacial, HOXD1 (rs1374326), TNP1 (rs748044), MSX1 (rs1106514), TCOF1 (rs15251, rs2569062, rs28372960), FGFR1 (rs7829058), COL2A1 (rs1793949), WNT3 (rs11653738) e TIMP3 (rs242082), na susceptibilidade das FL/PNS em uma população brasileira. Para verificar a associação destes polimorfismos, este estudo associou o teste de desequilíbrio de transmissão (TDT) com a análise caso-controle com correção de variações genéticas de ancestralidade em uma amostra composta de 189 trios com fissura labial com ou sem fissura palatina não-sindrômica (FL±PNS), 107 trios com fissura palatina não-sindrômica (FPNS), 318 amostras isoladas de pacientes com FL±PNS, 189 amostras isoladas de pacientes com FPNS e 599 controles. Todos os polimorfismos foram inicialmente analisados por TDT e as associações significantes foram confirmadas na análise caso-controle. Os polimorfismos rs28372960 e rs7829058 foram transmitidos de maneira significante dos genitores para os pacientes com FL±PNS (p=0,04), assim como os polimorfismos rs1374326 e rs11653738 nos trios com FPNS (p=0,04). Contudo, o estudo caso-controle não confirmou tais associações. O haplótipo C-C-T formado pelos polimorfismos rs15251, rs2569062 e rs28372960 no gene TCOF1 foi significantemente mais comum nos pacientes com FL±PNS em comparação com o grupo controle (p=0,01). Frente as modestas associações, nossos resultados não suportam a hipótese de que variantes estudadas nos genes HOXD1, TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3 e TIMP3 são fatores de risco para FL/PNS em uma população brasileira / Abstract: The craniofacial development involves a series of highly coordinated events, and polymorphic variations in genes that control these events can affect the morphogenesis of the lip and palate, resulting in the non-syndromic cleft lip and/or palate (NSCL/P). The aim of present study was to verify the association of polymorphisms in genes related to craniofacial development, HOXD1 (rs1374326), TNP1 (rs748044), MSX1 (rs1106514), TCOF1 (rs15251, rs2569062, rs28372960), FGFR1 (rs7829058), COL2A1 (rs1793949), WNT3 (rs11653738) and TIMP3 (rs242082), in the susceptibility of NSCL/P in a Brazilian population. To verify the association of those polymorphisms, the study associated the transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions in a sample composed of 189 case-parent trios of non-syndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of non-syndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP and 599 healthy controls. All polymorphisms were initially evaluated by TDT, and significant associations were valitaded in a case-control analysis. A significant overtransmission of rs28372960 and rs7829058 polymorphisms in NSCL±P trios was observed (p=0.04), as well as the rs1374326 and rs11653738 polymorphisms in NSCP trios (p=0.04). However, the structured case-control analysis did not confirm those associations. The haplotype C-C-T formed by rs15251, rs2569062 and rs28372960 polymorphisms in TCOF1 gene was significantly more frequent in patients with NSCL±P in comparison with the control group (p=0.01). With the modest associations, our results do not support the hypothesis that HOXD1, TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3 and TIMP3 variants are risk factors for NSCL/P in a Brazilian population / Mestrado / Patologia / Mestre em Estomatopatologia

This study investigated the efficacy of a parent questionnaire as a component for screening early language development of children 16 to 30 months of age with cleft lip and palate. Thirty nonsyndromic children with cleft lip and palate and 30 children without clefts received the MacArthur Communicative Development Inventory: Toddler (CDI:Toddler), administered by a pediatrician. In addition, a speech-language screening was performed by a speech-language pathologist. Results of the two assessments indicated that the CDI:Toddler was a valid screener of language development when compared with a comprehensive speech-language screening. Language and speech characteristics of the subject populations are discussed. In particular, differences between the cleft and noncleft groups demonstrated evidence of delays in expressive language development in the children with cleft lip and palate.

This study examined the effects of a vocabulary intervention for 3 children with cleft lip and/or palate who showed limited consonant inventories and delayed expressive language. In a multiple baseline design across behaviors, a vocabulary intervention was implemented using a milieu model. The treatment produced an increase in vocabulary production that generalized to a conversational language sample in the clinic and home as reported by parents. Phonological variables, including consonant repertoire and syllable structure, were monitored before and after language treatment for all children. Phonological performance improved and did not need to be addressed as a separate goal in intervention.

Indiana University-Purdue University Indianapolis (IUPUI) / Obturator therapy has been proposed for many years as an aid in maxillary orthopedics for the complete unilateral cleft lip and palate infant. The obturator appliance had the added benefit of providing a false palate against which the infant can suckle. This has aided in the feeding of these infants to assure adequate nutrition with the least effort for parent and child. The current study assessed three aspects of obturator therapy at James Whitcomb Riley Hospital for Children, Indianapolis, Indiana. Parental evaluations of the obturator proved to be very positive. Almost all parents (96%) rated it as beneficial and would recommend its use to other parents with cleft lip and palate infants. Weight gain analysis over the first nine months of life demonstrated that these infants were only slightly below the average for birth weight. At three and nine months of age, a number (69% and 56% respectively) had maintained their original weight percentile rankings or had just dropped into the next lower category. Thus, many of the infants were able to achieve adequate nutrition, a problem noted by many authors when obturator therapy was not used. It should be emphasized that each infant underwent either one or two major surgical procedures during this time period. Arch symmetry assessments at one, four and ten months showed a gradual reduction in lateral posterior crossbite, canine crossbite, and anterior crossbite tendency. Although the arches still showed some collapse at the end of ten months of age, the pattern was much better than at initial presentation with values much closer to normal. Improvements in arch symmetry was expected as the maxilla grew. From the results of this study, obturator therapy appears to be beneficial in maxillary orthopedics by helping to maintain adequate weight gain and gain parental acceptance.

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Background: Cleft lip and/or palate (CL/P) is a complex, heterogeneous disorder which occurs due to the interplay between environmental and biological risk factors. Individuals in lower-middle-income countries (LMICs) are exposed to a multitude of risk factors resulting in a greater occurrence of CL/P. Research and knowledge of which risk factors are associated with CL/P in LMICs may aid health care professionals such as speech-language therapists in low-income countries in the early identification of at-risk infants. Objective: To identify and review published data on the risks associated with CL/P in LMICs. Design: A systematic review of literature was performed on electronic databases using the PRISMA-P. Literature on risks associated with CL/P in LMICs, from 2010 to 2020 was included. Results: Seventeen studies met the inclusion criteria. All studies adopted an observational study design. Biological and environmental risks were identified. Maternal and paternal age (n=7) and low socioeconomic status (n=5) were the most prominently associated environmental risk factors. Regarding biological risk factors, a strong association was identified between family history of cleft (n=7) and CL/P occurrence. Conclusion: Environmental risk factors are now being investigated more than biological risk factors in LMICs, hindering health care workers in the early identification (EI) of the possible cumulative effects of risks in CL/P. Contextually-relevant tools are recommended to promote the EI of at-risk infants. / Dissertation (MA (Speech-Language Pathology))--University of Pretoria, 2021. / Speech-Language Pathology and Audiology / MA (Speech-Language Pathology) / Unrestricted