Objetivos: estudar indivíduos com (G1) e sem (G2) sinais da Síndrome Velocardiofacial (SVCF) para verificar diferenças entre eles quanto à extensão e espessura velar, profundidade nasofaríngea, razão entre profundidade nasofaríngea e extensão velar (PNF/EV), tamanho da falha velofaríngea, ângulo velar, movimento do véu palatino e das paredes laterais e posterior da faringe e à presença da tonsila faríngea; diferenças para as medidas de extensão e espessura velar, profundidade nasofaríngea e razão PNF/EV dos grupos estudados com os valores de normalidade propostos por Subtelny (1957); e correlação entre o tamanho da falha velofaríngea e a razão PNF/EV. Material e Método: estudo prospectivo com 60 indivíduos de ambos os sexos sem fissura palatina evidente e com disfunção velofaríngea (DVF), não operados, sendo 30 com sinais clínicos da SVCF (G1) (idade de 5,4 a 51 anos, com média de 15,7±9,5 anos) e 30 sem os sinais da SVCF (G2) (idade de 4,5 a 33 anos, com média de 15±7,6 anos). O exame videofluoroscópico foi realizado nas projeções lateral e frontal para análise da extensão e espessura velar, profundidade nasofaríngea, falha velofaríngea e ângulo velar, movimento do véu palatino, paredes laterais e posterior da faringe e presença da tonsila faríngea. Resultados: quanto às medidas de extensão e espessura velar, profundidade nasofaríngea e razão PNF/EV, não houve diferença entre os grupos quando se comparou os casos maiores de 18 anos, bem como os menores de 18 anos pareados por idade; mas quando a idade não foi pareada nos casos menores de 18 anos, a espessura velar foi menor (p=0,019) e a razão PNF/EV foi maior (p=0,048) no G1 e, ao se analisar independente da faixa etária, a razão PNF/EV foi maior no G1 (p=0,024). Em relação às medidas de normalidade, a extensão velar foi menor no G1 (p=0,007), a espessura velar foi menor no G1 (p=0,000) e G2 no (p=0,000), a profundidade nasofaríngea e a razão PNF/EV foram maiores no G1 (p=0,000) e no G2 (p=0,000), entretanto ao se considerar a variação de 2 desvios-padrão em relação aos valores de normalidade, não houve diferença entre os grupos para todas as medidas. Também não houve diferença entre os grupos quanto ao ângulo de elevação velar (p=0,232) e presença (p=0,698) e tamanho da falha velofaríngea (p=0,293), movimento velar (p=0,085) e das paredes laterais (p=0,763) e posterior (p=0,237) da faringe, além do tamanho da tonsila faríngea (p=0,307). Não houve correlação entre a falha velofaríngea e a razão PNF/EV no G1 (p=0,153) e no G2 (p=0,598). Conclusões: a razão PNF/EV foi maior nos indivíduos com DVF e sinais da SVCF comparados aos indivíduos com DVF sem os sinais da síndrome, sugerindo ser este um indicador velofaríngeo para a SVCF, enquanto os aspectos funcionais da velofaringe não diferiram entre os indivíduos com e sem os sinais da SVCF. Não houve correlação entre o tamanho da falha no fechamento velofaríngeo e a razão PNF/EV nos grupos com e sem sinais da SVCF. / Objective: to study individuals with (G1) and without (G2) signs of velocardiofacial syndrome (VCFS), so as to verify differences in terms of length and thickness of the soft palate, nasopharyngeal depth, ratio of nasopharyngeal depth to velar length (PD/VL), velopharyngeal gap size, velar angle, soft palate movement, lateral and posterior pharyngeal walls movement and the presence of adenoidal tissue; differences for the measurements of velar length and thickness, nasopharyngeal depth and PD/VL ratio for the groups studied with the normality values proposed by Subtelny (1957); and correlation between the size of velopharyngeal gap and the PD/VL ratio. Methods: a prospective study with 60 subjects from both genders, with no evident cleft palate, with velopharyngeal dysfunction (VPD), non operated, being 30 with clinical signs of VCFS (age range 5.4 to 51 yrs, mean 15.7±9.5 yrs), and 30 with no signs of VCFS (age range 4.5 to 33 yrs, mean 15±7.6 yrs). The videofluoroscopy was performed in lateral and frontal views, for the analysis of velar length and thickness, nasopharyngeal depth, velopharyngeal gap, velar angle, soft palate movement, lateral and posterior pharyngeal walls movement and the presence of adenoidal tissue. Results: there was no difference in the measurements of velar length and thickness, nasopharyngeal depth and PD/VL ratio, between the groups, when cases over 18 yrs, as well as those under 18, paired by age, were compared; however, when age was not paired in the cases under 18 yrs, the velar thickness was smaller (p=0.019) and the PD/VL ratio was greater (p=0.048) in G1 and, by analyzing regardless the age range, the PD/VL ratio was greater in G1 (p=0.024). In relation to normality measurements, the velar length was smaller in G1 (p=0.007), the velar thickness was smaller in G1 (p=0.000) and G2 (p=0.000), the nasopharyngeal depth and the PD/VL ratio were greater in G1 (p=0.000) and G2 (p=0.000), nevertheless, when considering the variation of 2 standard deviations in relation to the normality values, there was no difference between the groups for all measurements. No difference was seen between the groups, as to the velar angle (p=0.232) and presence (p=0.698) and size of velopharyngeal gap (p=0.293), velar movement (p=0.085) and lateral (p=0.763) and posterior (p=0.237) pharyngeal walls movement, besides the size of adenoidal tissue (p=0.307). No correlation was seen between the velopharyngeal gap and the PD/VL ratio in G1 (p=0.153) and G2 (p=0.598). Conclusions: the PD/VL ratio was greater in individuals with VPD and signs of VCFS, as compared to individuals with VPD with no signs of the syndrome, suggesting that this is a velopharyngeal indicator for VCFS, whereas velopharyngeal functional aspects did not differ between individuals with and without signs of VCFS. There was no correlation between the size of the velopharyngeal gap and the PD/VL ratio, in the groups with and without signs of VCFS.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.

The past two decades have witnessed an accelerated effort to understand the nature of schizophrenia and related psychotic disorders, but no causative gene(s) has been discovered yet. Family, twin, and adoption studies indicate that genetic factors are clearly implicated in the etiology of these disorders (Cardno and Gottesman, 2000; Cardno et al., 2002; McGuffin et al., 2003; Weinberger, 2005). Several aspects of 22q11 Deletion Syndrome (22qDS) - the most common chromosomal microdeletion found in humans - create a unique opportunity for susceptibility gene identification. For instance, the reported risk of psychotic disorders in 22qDS is 25-fold higher than in the general population (Murphy et al., 1999) and genome-wide linkage studies in families with schizophrenia without 22qDS indicate that the 22q11.2 region is a strong susceptibility locus for psychosis (Badner and Gershon, 2002; Lewis et al., 2003). This thesis aims to identify genetic factors associated with the development of psychosis in 22qDS by i) investigating the relationship between the length of the 22q11.2 deletions and the presence of a psychotic disorder in patients with 22qDS; ii) studying diagnostic molecular methods that improve detection of 22q11.2 deletions and duplications; and iii) exploring the relationship between 22qDS-psychotic phenotype and gene expression patterns. The central hypothesis was that psychosis in 22qDS would not be associated with haploinsufficiency (having one copy of the gene), but rather, it would be associated with distinct 22q11.2 gene expression profiles. Chapter 2 showed that 22q11.2 deletion size did not appear to be associated with the development of psychosis in adults with 22qDS. In Chapter 3, a molecular method that detects and size 22q11.2 deletions and duplications of various sizes was shown to be superior to the traditional molecular diagnostic technique used for molecular diagnostic of 22qDS. Finally, in Chapter 4, decreased gene expression of three genes located in the 22q11.2 region (SNAP29, COMT and BID) was significantly associated with psychosis in adults with 22qDS. Focusing on genes located in the 22q11.2 region has helped revealing genetic alterations associated with the frequent development of psychosis in 22qDS. Future studies focusing on investigating the heterogeneity of the psychotic presentation in 22qDS and further elucidating potential genetic mechanisms likely to explain the gene expression changes in the 22q11.2 region demonstrated here will help advance the scientific understanding of the etiology of psychosis.

The past two decades have witnessed an accelerated effort to understand the nature of schizophrenia and related psychotic disorders, but no causative gene(s) has been discovered yet. Family, twin, and adoption studies indicate that genetic factors are clearly implicated in the etiology of these disorders (Cardno and Gottesman, 2000; Cardno et al., 2002; McGuffin et al., 2003; Weinberger, 2005). Several aspects of 22q11 Deletion Syndrome (22qDS) - the most common chromosomal microdeletion found in humans - create a unique opportunity for susceptibility gene identification. For instance, the reported risk of psychotic disorders in 22qDS is 25-fold higher than in the general population (Murphy et al., 1999) and genome-wide linkage studies in families with schizophrenia without 22qDS indicate that the 22q11.2 region is a strong susceptibility locus for psychosis (Badner and Gershon, 2002; Lewis et al., 2003). This thesis aims to identify genetic factors associated with the development of psychosis in 22qDS by i) investigating the relationship between the length of the 22q11.2 deletions and the presence of a psychotic disorder in patients with 22qDS; ii) studying diagnostic molecular methods that improve detection of 22q11.2 deletions and duplications; and iii) exploring the relationship between 22qDS-psychotic phenotype and gene expression patterns. The central hypothesis was that psychosis in 22qDS would not be associated with haploinsufficiency (having one copy of the gene), but rather, it would be associated with distinct 22q11.2 gene expression profiles. Chapter 2 showed that 22q11.2 deletion size did not appear to be associated with the development of psychosis in adults with 22qDS. In Chapter 3, a molecular method that detects and size 22q11.2 deletions and duplications of various sizes was shown to be superior to the traditional molecular diagnostic technique used for molecular diagnostic of 22qDS. Finally, in Chapter 4, decreased gene expression of three genes located in the 22q11.2 region (SNAP29, COMT and BID) was significantly associated with psychosis in adults with 22qDS. Focusing on genes located in the 22q11.2 region has helped revealing genetic alterations associated with the frequent development of psychosis in 22qDS. Future studies focusing on investigating the heterogeneity of the psychotic presentation in 22qDS and further elucidating potential genetic mechanisms likely to explain the gene expression changes in the 22q11.2 region demonstrated here will help advance the scientific understanding of the etiology of psychosis.

Objetivos: estudar indivíduos com (G1) e sem (G2) sinais da Síndrome Velocardiofacial (SVCF) para verificar diferenças entre eles quanto à extensão e espessura velar, profundidade nasofaríngea, razão entre profundidade nasofaríngea e extensão velar (PNF/EV), tamanho da falha velofaríngea, ângulo velar, movimento do véu palatino e das paredes laterais e posterior da faringe e à presença da tonsila faríngea; diferenças para as medidas de extensão e espessura velar, profundidade nasofaríngea e razão PNF/EV dos grupos estudados com os valores de normalidade propostos por Subtelny (1957); e correlação entre o tamanho da falha velofaríngea e a razão PNF/EV. Material e Método: estudo prospectivo com 60 indivíduos de ambos os sexos sem fissura palatina evidente e com disfunção velofaríngea (DVF), não operados, sendo 30 com sinais clínicos da SVCF (G1) (idade de 5,4 a 51 anos, com média de 15,7±9,5 anos) e 30 sem os sinais da SVCF (G2) (idade de 4,5 a 33 anos, com média de 15±7,6 anos). O exame videofluoroscópico foi realizado nas projeções lateral e frontal para análise da extensão e espessura velar, profundidade nasofaríngea, falha velofaríngea e ângulo velar, movimento do véu palatino, paredes laterais e posterior da faringe e presença da tonsila faríngea. Resultados: quanto às medidas de extensão e espessura velar, profundidade nasofaríngea e razão PNF/EV, não houve diferença entre os grupos quando se comparou os casos maiores de 18 anos, bem como os menores de 18 anos pareados por idade; mas quando a idade não foi pareada nos casos menores de 18 anos, a espessura velar foi menor (p=0,019) e a razão PNF/EV foi maior (p=0,048) no G1 e, ao se analisar independente da faixa etária, a razão PNF/EV foi maior no G1 (p=0,024). Em relação às medidas de normalidade, a extensão velar foi menor no G1 (p=0,007), a espessura velar foi menor no G1 (p=0,000) e G2 no (p=0,000), a profundidade nasofaríngea e a razão PNF/EV foram maiores no G1 (p=0,000) e no G2 (p=0,000), entretanto ao se considerar a variação de 2 desvios-padrão em relação aos valores de normalidade, não houve diferença entre os grupos para todas as medidas. Também não houve diferença entre os grupos quanto ao ângulo de elevação velar (p=0,232) e presença (p=0,698) e tamanho da falha velofaríngea (p=0,293), movimento velar (p=0,085) e das paredes laterais (p=0,763) e posterior (p=0,237) da faringe, além do tamanho da tonsila faríngea (p=0,307). Não houve correlação entre a falha velofaríngea e a razão PNF/EV no G1 (p=0,153) e no G2 (p=0,598). Conclusões: a razão PNF/EV foi maior nos indivíduos com DVF e sinais da SVCF comparados aos indivíduos com DVF sem os sinais da síndrome, sugerindo ser este um indicador velofaríngeo para a SVCF, enquanto os aspectos funcionais da velofaringe não diferiram entre os indivíduos com e sem os sinais da SVCF. Não houve correlação entre o tamanho da falha no fechamento velofaríngeo e a razão PNF/EV nos grupos com e sem sinais da SVCF. / Objective: to study individuals with (G1) and without (G2) signs of velocardiofacial syndrome (VCFS), so as to verify differences in terms of length and thickness of the soft palate, nasopharyngeal depth, ratio of nasopharyngeal depth to velar length (PD/VL), velopharyngeal gap size, velar angle, soft palate movement, lateral and posterior pharyngeal walls movement and the presence of adenoidal tissue; differences for the measurements of velar length and thickness, nasopharyngeal depth and PD/VL ratio for the groups studied with the normality values proposed by Subtelny (1957); and correlation between the size of velopharyngeal gap and the PD/VL ratio. Methods: a prospective study with 60 subjects from both genders, with no evident cleft palate, with velopharyngeal dysfunction (VPD), non operated, being 30 with clinical signs of VCFS (age range 5.4 to 51 yrs, mean 15.7±9.5 yrs), and 30 with no signs of VCFS (age range 4.5 to 33 yrs, mean 15±7.6 yrs). The videofluoroscopy was performed in lateral and frontal views, for the analysis of velar length and thickness, nasopharyngeal depth, velopharyngeal gap, velar angle, soft palate movement, lateral and posterior pharyngeal walls movement and the presence of adenoidal tissue. Results: there was no difference in the measurements of velar length and thickness, nasopharyngeal depth and PD/VL ratio, between the groups, when cases over 18 yrs, as well as those under 18, paired by age, were compared; however, when age was not paired in the cases under 18 yrs, the velar thickness was smaller (p=0.019) and the PD/VL ratio was greater (p=0.048) in G1 and, by analyzing regardless the age range, the PD/VL ratio was greater in G1 (p=0.024). In relation to normality measurements, the velar length was smaller in G1 (p=0.007), the velar thickness was smaller in G1 (p=0.000) and G2 (p=0.000), the nasopharyngeal depth and the PD/VL ratio were greater in G1 (p=0.000) and G2 (p=0.000), nevertheless, when considering the variation of 2 standard deviations in relation to the normality values, there was no difference between the groups for all measurements. No difference was seen between the groups, as to the velar angle (p=0.232) and presence (p=0.698) and size of velopharyngeal gap (p=0.293), velar movement (p=0.085) and lateral (p=0.763) and posterior (p=0.237) pharyngeal walls movement, besides the size of adenoidal tissue (p=0.307). No correlation was seen between the velopharyngeal gap and the PD/VL ratio in G1 (p=0.153) and G2 (p=0.598). Conclusions: the PD/VL ratio was greater in individuals with VPD and signs of VCFS, as compared to individuals with VPD with no signs of the syndrome, suggesting that this is a velopharyngeal indicator for VCFS, whereas velopharyngeal functional aspects did not differ between individuals with and without signs of VCFS. There was no correlation between the size of the velopharyngeal gap and the PD/VL ratio, in the groups with and without signs of VCFS.

No description available.

INTRODUÇÃO: Os defeitos cardíacos congênitos (DCC) são um grupo de anormalidades estruturais mais prevalentes ao nascimento e uma das principais causas de morbidade e mortalidade infantil. Os fatores genéticos são importantes na etiologia dos DCC. Estudos têm mostrado a contribuição da variação no número de cópias (CNV) na gênese das malformações cardíacas. A deleção 22q11.2 é a causa mais comum de microdeleção humana e está relacionada com defeito cardíaco (DCC) conotruncal. O MLPA (Multiplex Ligation-dependent Probe Amplification) é um método eficaz para detectar microdeleções/microduplicações em pacientes com DCC. OBJETIVO: Detectar a presença da variação no número de cópias gênicas em pacientes portadores de cardiopatia conotruncal pela técnica de MLPA e associar ao fenótipo do paciente. MÉTODOS: Foram avaliados 39 pacientes (23 do sexo masculino, 16 do sexo feminino) com idade entre 2 dias e 19 anos (mediana de 6 anos), todos com cardiopatia conotruncal, a maioria dos pacientes (56%) apresentavam tetralogia de Fallot. Avaliação clínica e laboratorial foi realizada em todos os pacientes. O cariótipo foi normal em todos pacientes. MLPA foi realizada com os kits P064, P036/P070 e P250. RESULTADOS: Foram detectadas CNVs em sete pacientes: deleção 22q11.2, duplicação 22q11.2, duplicação 15q11.2, duplicação 20p12.2, deleção 19p, duplicação 15q e duplicação 8p23.2 com duplicação 10p12.31. As cardiopatias encontradas nestes pacientes foram: dupla via de saída de ventrículo direito (2), coartação da aorta, tetralogia de Fallot (3) e transposição de grandes artérias. Os achados clínicos extracardíacos encontrados nestes pacientes foram dismorfismo facial, dente neonatal, atrofia e displasia cerebral, atresia duodenal, dificuldade de aprendizado, insuficiência velofaríngea, aplasia de timo, refluxo gastroesofágico, hérnia umbilical, asma, infecções de vias aéreas frequente, déficit de crescimento e somente três apresentavam retardo no desenvolvimento neuropsicomotor (dup 15q11.2, dup 15q, del 22q11.2). As características clínicas foram compatíveis com o relatado na literatura associado com a microdeleção/microduplicação encontrada. Nenhuma destas alterações foram herdadas de seus pais testados em seis casos. CONCLUSÃO: O uso do MLPA possibilitou a detecção de CNVs em pacientes com DCC. O diagnóstico precoce das CNVs em pacientes com DCC auxilia na prevenção de morbidade e diminuição da mortalidade nestes pacientes, contudo em um país com regiões com poucos recursos laboratoriais genéticos uma avaliação clínica minuciosa em todo paciente com DCC é imprescindível para direcionar qual melhor exame deve ser realizado / INTRODUCTION: Congenital heart defects (CHD) are a group of structural abnormalities most prevalent birth and a major cause of infant morbidity and mortality. Genetic factors are important in the etiology of CHD. Studies have shown the contribution of copy number variation (CNV) in the genesis of cardiac malformations. The deleletion 22q11.2 is the most common cause of human microdeletion and is related conotruncal cardiac defect (DCC). The MLPA (Multiplex Ligation-dependent Probe Amplification) is an effective method to detect microdeletions/micoduplications in patients with CHD. PURPOSE: Detect the presence of gene copies number variation in the patients with conotruncal heart defect by MLPA technique and associate the phenotype of the patient. METHODS: 39 patients (23 males, 16 females) aged 2 days old - 19 years old (median= 6 years old) with conotruncal cardiac defect were evaluated. Tetralogy of Fallot was more prevalent heart defect (56%). All patients were evaluated clinical and laboratory. Karyotypes were normal in all pacients. MLPA was performed with the P064, P036/P070 and P250 kits. RESULTS: CNVs were detected in seven patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q duplication and 8p23.2 duplication with 10p12.31 duplication. The congenital heart defect found in these patients were: double outlet right ventricle (2), coarctation of the aorta, tetralogy of Fallot (3) and transposition of the great arteries. Clinical findings in these patients were facial dysmorphism, neonatal tooth, brain atrophy and dysplasia, duodenal atresia, learning disabilities, velopharyngeal insufficiency, thymic aplasia, gastroesophageal reflux, umbilical hernia, asthma, frequent infections of the airways , failure to thrive, and only three had delayed psychomotor development (dup 15q 11.2, dup 15q, del 22q11.2) The clinical features were consistent with those reported in the literature associated with the microdeletion /microduplication found. None of these alterations were inherited from six parents tested. CONCLUSIONS: MLPA was effective to detect CNVs in patients with CHD. Early diagnosis of CNVs in patients with CHD assists in preventing morbidity and decreased mortality in these patients, however, in a country with regions with few genetic laboratory resources a thorough clinical evaluation in all patients with CHD is essential to direct which should be further analyzed performed

Objetivos: Investigar a ocorrência de queixa respiratória nos pacientes com sinais clínicos da Síndrome Velocardiofacial (SVCF) submetidos à cirurgia para a correção da Disfunção Velofaríngea (DVF), comparativamente àqueles com fissura isolada de palato sem sinais da SVCF, além de verificar se a condição respiratória pré-cirúrgica interfere na escolha do tratamento cirúrgico para correção da DVF. Material e Método: Estudo retrospectivo e prospectivo com 30 indivíduos de ambos os sexos, que realizaram procedimento cirúrgico para a correção da DVF (veloplastia intravelar ou retalho faríngeo), sendo 15 com sinais clínicos da SVCF (grupo estudo) e 15 com fissura isolada de palato sem sinais clínicos da SVCF, pareado por sexo e idade (grupo controle). Um levantamento de sintomas respiratórias foi realizado utilizando-se três questionários, um aplicado antes e após a cirurgia (Caouette-Laberge et al 1992) e dois aplicados apenas após a cirurgia (Petry et al 2008, Berlin, proposto por Netzer et al 1999). As comparações foram realizadas por meio do Teste Exato de Fisher, considerando-se nível de significância de 5%. Resultados: Sintomas como respiração oral e ronco estavam presentes nos períodos pré e pós-cirúrgico em ambos os grupos estudados, não sendo detectada diferença entre esses períodos quanto à presença desses sintomas, nos dois grupos. Diferença entre os grupos não foram constatadas em relação à presença de sonolência diurna excessiva, ronco, apneia, sono/fadiga, histórico de obesidade ou hipertensão arterial e risco potencial para SAOS. No grupo estudo houve semelhante distribuição entre a realização de veloplastia intravelar e retalho faríngeo, diferentemente do grupo controle em que prevaleceu a veloplastia intravelar, não havendo relação entre a frequência de sintomas respiratórios e o tipo de cirurgia, para ambos os grupos. Conclusão: Nos pacientes com sinais clínicos da SVCF, sintomas de respiração oral e ronco estão presentes antes e após a correção cirúrgica da DVF; não há diferença quanto aos sintomas respiratórios entre indivíduos com sinais clínicos da SVCF e indivíduos com fissura isolada de palato sem sinais da SVCF; a condição respiratória antes da cirurgia não interferiu na escolha do tipo de procedimento cirúrgico para correção da DVF. / Objectives: To investigate the occurrence of respiratory complaint in individuals with clinical signs of Velocardiofacial Syndrome (VCFS) submitted to surgery for correction of Velopharyngeal Dysfunction (VPD), compared to individuals without signs of VCFS, and analyzed if the preoperative respiratory condition interferes with surgical treatment planning for correction of VPD. Material and method: Retrospective and prospective study of 30 individuals of both genders, who were submitted to surgery for correction of VPD (intravelar veloplasty or pharyngeal flap), being 15 with clinical signs of VCFS (study group) and 15 with isolated cleft palate without clinical signs of VCFS, matched for gender and age (control group). A survey of respiratory complaints was performed using three questionnaires, one applied before and after surgery (Caouette-Laberge et al 1992) and two applied only after surgery (Petry et al 2008, Berlin, proposed by Netzer et al 1999). Comparisons were performed by the exact Fisher test, at a significance level of 5%. Results: Symptoms as mouth breathing and snoring were present in pre- and postoperative periods in both groups, without difference between periods concerning the presence of these symptoms, in the two groups. No differences were observed between groups as to the presence of excessive somnolence during the day, snoring, apnea, sleep/fatigue, history of obesity or arterial hypertension and potential risk to OSA. The study group presented similar distribution of intravelar veloplasty and pharyngeal flap, different from the control group that presented predominance of intravelar veloplasty, without relationship between the frequency of respiratory symptons and type of surgery, for both groups. Conclusion: In patients with clinical signs of VCFS, complaints of mouth breathing and snoring are present before and after surgical correction of VPD; there is no difference in the complaints of respiratory symptoms between individuals with clinical signs of VCFS and individuals with isolated cleft palate without signs of VCFS; the respiratory condition before surgery did not interfere with selection of the type of surgical procedure for correction of VPD.

Objetivos: Investigar a ocorrência de queixa respiratória nos pacientes com sinais clínicos da Síndrome Velocardiofacial (SVCF) submetidos à cirurgia para a correção da Disfunção Velofaríngea (DVF), comparativamente àqueles com fissura isolada de palato sem sinais da SVCF, além de verificar se a condição respiratória pré-cirúrgica interfere na escolha do tratamento cirúrgico para correção da DVF. Material e Método: Estudo retrospectivo e prospectivo com 30 indivíduos de ambos os sexos, que realizaram procedimento cirúrgico para a correção da DVF (veloplastia intravelar ou retalho faríngeo), sendo 15 com sinais clínicos da SVCF (grupo estudo) e 15 com fissura isolada de palato sem sinais clínicos da SVCF, pareado por sexo e idade (grupo controle). Um levantamento de sintomas respiratórias foi realizado utilizando-se três questionários, um aplicado antes e após a cirurgia (Caouette-Laberge et al 1992) e dois aplicados apenas após a cirurgia (Petry et al 2008, Berlin, proposto por Netzer et al 1999). As comparações foram realizadas por meio do Teste Exato de Fisher, considerando-se nível de significância de 5%. Resultados: Sintomas como respiração oral e ronco estavam presentes nos períodos pré e pós-cirúrgico em ambos os grupos estudados, não sendo detectada diferença entre esses períodos quanto à presença desses sintomas, nos dois grupos. Diferença entre os grupos não foram constatadas em relação à presença de sonolência diurna excessiva, ronco, apneia, sono/fadiga, histórico de obesidade ou hipertensão arterial e risco potencial para SAOS. No grupo estudo houve semelhante distribuição entre a realização de veloplastia intravelar e retalho faríngeo, diferentemente do grupo controle em que prevaleceu a veloplastia intravelar, não havendo relação entre a frequência de sintomas respiratórios e o tipo de cirurgia, para ambos os grupos. Conclusão: Nos pacientes com sinais clínicos da SVCF, sintomas de respiração oral e ronco estão presentes antes e após a correção cirúrgica da DVF; não há diferença quanto aos sintomas respiratórios entre indivíduos com sinais clínicos da SVCF e indivíduos com fissura isolada de palato sem sinais da SVCF; a condição respiratória antes da cirurgia não interferiu na escolha do tipo de procedimento cirúrgico para correção da DVF. / Objectives: To investigate the occurrence of respiratory complaint in individuals with clinical signs of Velocardiofacial Syndrome (VCFS) submitted to surgery for correction of Velopharyngeal Dysfunction (VPD), compared to individuals without signs of VCFS, and analyzed if the preoperative respiratory condition interferes with surgical treatment planning for correction of VPD. Material and method: Retrospective and prospective study of 30 individuals of both genders, who were submitted to surgery for correction of VPD (intravelar veloplasty or pharyngeal flap), being 15 with clinical signs of VCFS (study group) and 15 with isolated cleft palate without clinical signs of VCFS, matched for gender and age (control group). A survey of respiratory complaints was performed using three questionnaires, one applied before and after surgery (Caouette-Laberge et al 1992) and two applied only after surgery (Petry et al 2008, Berlin, proposed by Netzer et al 1999). Comparisons were performed by the exact Fisher test, at a significance level of 5%. Results: Symptoms as mouth breathing and snoring were present in pre- and postoperative periods in both groups, without difference between periods concerning the presence of these symptoms, in the two groups. No differences were observed between groups as to the presence of excessive somnolence during the day, snoring, apnea, sleep/fatigue, history of obesity or arterial hypertension and potential risk to OSA. The study group presented similar distribution of intravelar veloplasty and pharyngeal flap, different from the control group that presented predominance of intravelar veloplasty, without relationship between the frequency of respiratory symptons and type of surgery, for both groups. Conclusion: In patients with clinical signs of VCFS, complaints of mouth breathing and snoring are present before and after surgical correction of VPD; there is no difference in the complaints of respiratory symptoms between individuals with clinical signs of VCFS and individuals with isolated cleft palate without signs of VCFS; the respiratory condition before surgery did not interfere with selection of the type of surgical procedure for correction of VPD.