No description available.

Background & Purpose Approximately 50β of children born with cleft lip and/or palate (CL/P) will need speech and language intervention (Lockhart, 2003). Speech difficulties are related to poorer academic performance, higher risk of retention in younger grades, and greater risk of being bullied or having a low self-esteem (Byrd, 1994; Lockhart, 2003). Since parents are the primary decision makers when it comes to treatment for their child, how closely do parents' perceptions of speech, appearance, and emotional consequences match the perception of their child? This study assessed differences in perceptions between parents and children with CL/P regarding speech, the emotional impact of having a cleft, and quality of life. Methods & Description Twenty parent-child dyads were recruited at a University based cleft palate clinic. The children were between 7 and 17 years of age, with a diagnosis of cleft palate, cleft lip and alveolus, submucous cleft only, or cleft lip and palate. During a routine clinic appointment, the child and a parent/legal guardian completed the VPI Effects of Life Outcome (VELO) Survey. Parents and children completed the VELO Survey separately to facilitate open, unbiased responses, especially regarding sensitive issues such as facial appearance and emotional health. Results Overall, parents and their affected children did not view the child's speech significantly differently. A Wilcoxon signed rank test found that the differences between parent and child responses were not significant (p=0.3979). Gender, age, and cleft type were not found to have statistically significant impact on differences between parent and child scores. The VELO Survey is divided into five main sections. This study identified the subsection relating to speaking in various situations as having a significantly greater parental concern when compared across all VELO subsections. After applying a Bonferroni multiple comparison adjustment to control the type error rate at 0.05 for all five subsections, a statistically significant relationship was found indicating higher parent ratings than their child in this subsection (p=0. 0.0184). Speech-language pathologist ratings showed a statistically significant linear relationship with the child total VELO scores (p=0.0116), and with parent total VELO scores (p=0.0009). This means that a higher score on the VELO by the parent or the child, and a lower SLP rating, both indicate lower severity of impact of the cleft disorder on the child's life. Conclusion While parents, children, and the speech-language pathologist often agreed with each other in their rating how having a cleft affected the child's life, significant differences did exist between some parent-child dyads. These differences have important clinical implications, primarily the importance of including both parents and children in discussions of the impact of the cleft condition and treatment options.

As alterações volumétricas da cavidade oral, nasal e espaço faríngeo após a cirurgia ortognática, têm sido objetivo de muitos estudos, uma vez que, essas alterações dependem da direção e magnitude da movimentação dos segmentos ósseos, porém, poucos são os trabalhos que combinam os diferentes métodos para a avaliação da nasofaringe. O objetivo deste estudo foi correlacionar o espaço aéreo faríngeo em pacientes com fissura labiopalatina, submetidos à cirurgia ortognática com avanço de maxila e/ou recuo de mandíbula, por meio da análise do volume e área seccional mínima utilizando imagens de tomografia computadorizada de feixe cônico e pela rinomanometria anterior modificada (técnica fluxo-pressão) no pré e pós-operatório de um ano da cirurgia ortognática. Desse modo, a amostra foi composta por 41 indivíduos, que foram avaliados no pré-operatório e no pós-operatório, na qual, avaliou-se a área seccional mínima pela rinomanometria anterior modificada expressos em mm2 e pelas imagens de tomografia de feixe cônico, que foram importadas em DICOM e avaliadas pelo software Dolphin Imaging 11.0, obtendo os valores numéricos de volume (V), expressos em cm3, bem como a área seccional mínima, expressa em mm2. Notou-se que, em todas as variáveis, houve aumento médio dos valores no pós-operatório em relação ao pré-operatório. Além disso, notouse uma diferença estatisticamente significante ao comparar os resultados dos volumes e da área seccional mínima da área nasofaríngea no pré e pós-operatório pelo software Dolphin Imaging 11.0 ao aplicar o Teste de Wilcoxon. Observou-se também, o aumento discreto da área nasofaríngea avaliada pela rinomanometria, no préoperatório de 105,9 mm2 para 107,1 mm2 no pós-operatório, mas sem diferença estatisticamente significante com p=0,493 pelo Teste de Wilcoxon. E ao comparar a ASM pela TCFC (ASMD) e pela rinomanometria (notou-se diferença estatística (p= 0,033) pelo Teste de Wilcoxon. Por conseguinte, concluiu-se que, existe diferença estatisticamente significante entre a área seccional mínima obtida da TCFC com a rinomanometria pela técnica de fluxo-pressão. / The volumetric changes of the oral cavity, nasal cavity and pharyngeal space after orthognathic surgery have been the objective of many studies, since these alterations depend on the direction and magnitude of the movement of the bone segments, however, there are few studies that combine the different methods for evaluating the nasopharynx. The objective of this study was to correlate the pharyngeal air space in patients with cleft lip and palate submitted to orthognathic surgery with maxillary advancement and / or mandible retreatment, by means of volume analysis and minimum sectional area using conical beam computed tomography by modified anterior rhinomanometry (flow-pressure technique) in the pre- and postoperative year of orthognathic surgery. Thus, the sample consisted in 41 individuals, which were evaluated preoperatively and postoperatively, in which the minimum sectional area was determined by modified anterior rhinomanometry expressed in mm2 and by conical beam tomography images, which were imported into DICOM and evaluated by Dolphin Imaging 11.0 software, obtaining the numerical values of volume (V), expressed in cm3, as well as the minimum sectional area, expressed in mm2. It was observed that, in all variables, there was an average increase in postoperative values in relation to the preoperative period. In addition, a statistically significant difference was observed when comparing the results of the volumes and the minimum sectional area of the nasopharyngeal area in the pre and postoperative period by the Dolphin Imaging 11.0 software when applying the Wilcoxon Test. It was also observed a discrete increase in the nasopharyngeal area evaluated by rhinomanometry, in the preoperative period from 105.9 mm2 to 107.1 mm2 postoperatively, but without a statistically significant difference with p = 0.493 by the Wilcoxon test. When comparing ASM by CBCT (ASMD) and rhinomanometry (a statistical difference (p = 0.033) was noted by the Wilcoxon test. Therefore, it was concluded that there is a statistically significant difference between the minimum sectional area obtained from the CBCT with rhinomanometry.

O presente estudo teve por objetivo a avaliação das consequências da expansão rápida da maxila em indivíduos com fissura labiopalatina unilateral nos seguintes desfechos: rizogênese, reabsorção radicular, espessura da tábua óssea e deiscência. Este estudo de coorte prospectivo foi composto por 30 participantes, sendo 20 homens e 10 mulheres, entre 8 e 15 anos. Os participantes foram alocados em 3 grupos, conforme o tipo de atresia maxilar, e tratados com diferentes tipos de aparelho expansor: G1, Hyrax; G2, Expansor em Leque; G3, Mini-Hyrax Invertido. Foram realizadas Tomografias Computadorizadas de Feixes Cônicos imediatamente antes do tratamento e 90 dias após contenção do aparelho. Medições lineares foram obtidas pelo mesmo examinador cegado. A estatística inferencial dos dados, após testes de normalidade e homogeneidade, foi realizada pela análise de regressão multinível. As raízes que apresentavam o ápice aberto ao início do tratamento demonstraram um aumento estatisticamente significante após o tratamento. Em contrapartida, não houve alterações significativas no comprimento radicular das raízes que apresentavam o ápice fechado no início do tratamento. Uma diminuição significativa da espessura da tábua óssea vestibular, bem como um aumento significativo da deiscência pode ser observado. Não houve diferença significante entre o lado com e sem a fissura para todas as variáveis apresentadas, assim como não houve diferença entre os grupos. Os achados neste estudo permitem concluir que as forças ortopédicas da expansão rápida da maxila não são capazes de interromper o processo de desenvolvimento radicular, tampouco causar reabsorção radicular apical externa significativa em indivíduos com fissura labiopalatina unilateral. Contudo, uma diminuição significativa de volume ósseo vestibular posterior é esperada, mas não deve ser considerada importante clinicamente. / The present study aimed to evaluate the consequences of rapid maxillary expansion in subjects with unilateral cleft lip and palate in the following outcomes: root formation, root resorption, buccal bone thickness and dehiscence. This prospective cohort study comprised 30 participants, 20 male and 10 female, between 8 and 15 years old. Participants were allocated in 3 groups, according to the type of maxillary constriction, and were treated with different types of expanders: G1, hyrax; G2, fan-type; G3, inverted mini-hyrax. Cone Beam Computed Tomography scans were performed immediately before treatment and after 90 days of retention. Linear measurements were obtained by the same blinded examiner. The inferential statistics of the data, after normality and equality tests, was performed with a multilevel regression analysis. The roots presenting open apexes at the beginning of treatment showed a statistically significant increase in length after treatment. On the other hand, there were no significant changes in the root length of roots that had a closed apexes at the beginning of the treatment. A significant decrease in buccal bone thickness as well as a significant increase in dehiscence were observed. There was no significant difference between the cleft and non-cleft side for all variables, as there was no significant difference between groups. The findings in this study allow to conclude that the orthopedic forces of rapid maxillary expansion are not able to interrupt the root development process nor to cause significant external apical root resorption in subjects with unilateral cleft lip and palate. However, a significant decrease in posterior buccal bone volume is expected, but it should not be considered important in a clinical perspective.

The need for a standard approach for the diagnosis of speech disorders, in particular resonance disorders associated with cleft lip and/or palate, has been recognised. A reliable and valid measure of nasality is important, because it not only affects clinical decision making but is also essential for the evaluation of treatment outcomes. In order to allow cross-linguistic comparisons of the assessment of resonance, language specific stimuli developed according to a common set of guidelines have been recommended. The aim of this thesis was to contribute to the development of an assessment protocol for use in Malay speaking individuals with clefts of the lip and/or palate, specifically focusing on the detection of nasality. A series of four studies were completed which systematically developed and then validated a set of stimuli in the Malay language using both perceptual and instrumental measures. / In the first study, three stimuli were developed for the assessment of nasality based on both the proportion of nasal phonemes in typical conversation samples in Malay and guidelines from the current international literature. The phonetic content of the stimuli were comparable to similar passages used in English and comprised of an Oral Passage, a Nasal Passage and a Set of Sentences. / In the second study, the stimuli constructed were tested in a large number of typically developing (non-cleft) Malay speaking children using both instrumental and perceptual methods of assessment. The results of this study provide the first set of normative data of nasalance scores for the three newly developed stimuli. The mean nasalance score for the Oral Passage was 13.86% (SD = 5.11, 95% CI = 13.04–14.68), 60.28% (SD = 6.99, 95% CI = 59.15–61.41) for the Nasal Passage, and 27.72% (SD = 4.74, 95% CI = 26.96–28.49) for the Set of Sentences. These scores were significantly different from each other suggesting that they can be used to detect the different types of resonance disorder in speech (e.g. hypernasality and/or hyponasality). / In the third study, the stimuli were validated in a sample of Malay speaking children with cleft of the lip and/or palate and compared with a control population. Nasality was measured using perceptual evaluation and nasometry. The results suggested that the Oral Passage and Set of Sentences developed in Malay were valid measures for detecting hypernasality for both perceptual evaluation of nasality, and for nasometry. Due to the small number of participants that were hyponasal, the validity of the Nasal Passage could not be determined. / For nasometry to be clinically relevant threshold values that indicate abnormal nasality are required. The threshold values for each of the stimuli were first ascertained after obtaining typical nasality levels from a group of healthy Malay speaking children and then tested in a sample of cleft and non-cleft Malay speaking children. In contrast to the nasalance cutoffs obtained from typical Malay speaking children, the cutoffs obtained from the cleft children yielded better outcomes for detecting resonance disorders. The cutoffs were: ≥ 22% for the Oral Passage (sensitivity = 0.91, specificity = 0.93, overall efficiency = 0.92), ≥ 30% for the Set of Sentences (sensitivity = 0.96, specificity = 0.85, overall efficiency = 0.88) and ≤ 39 on the Nasal Passage (sensitivity = 1.00, specificity = 0.99, overall efficiency = 0.99). / Finally, the fourth study explored the application of recently developed techniques for assessing nasality using spectral voice analysis and compared these results with nasometry using a sub-sample of Malay speaking children from the third study. The participants were children with cleft lip and/or palate with perceived hypernasality and a group of healthy controls perceived to have normal resonance. The potential of assessing nasality using vowels, which ideally can be an easier option to administer clinically and have minimal impact on language and literacy skills, were investigated. / The findings showed that only the one-third-octave analysis method could be successfully used to detect hypernasality in the cleft population compared to the VLHR method. Using the one-third-octave analysis, the spectral characteristics of nasalised vowel /i/ taken from /pit/ and /tip/ showed an increase in amplitude in F1, between F1 and F2 regions. The amplitude of the formants at F3 region was lower in the cleft group but did not differ from the control group as reported in previous studies. Although, the one-third-octave analysis has some potential in detecting hypernasality, the accuracy of the analysis compared to perceptual ratings of nasality was only moderate. Compared to nasometry, the diagnostic value of the one-third-octave analysis in detecting hypernasality was lower. / The overall findings suggest that, except for the Nasal Passage, the Oral Passage and the Set of Sentences developed in Malay using this systematic approach were culturally appropriate and valid for the assessment of nasality. Furthermore, by comparing two instrumental methods (nasometry and spectral analysis) with perceptual evaluation in a large number of cleft and typically developing children, the present thesis was able to demonstrate the clinical benefits of two recently proposed methods of spectral voice analyses and compare them to existing methods. Compared to spectral analysis, nasometry remains a superior method for assessing nasality. Threshold values that indicate abnormal nasality levels for the newly developed stimuli in Malay have been recommended.

<p>Syftet med denna studie var att, utifrån vetenskaplig litteratur, beskriva hur föräldrar till barn med läpp-, käk- och gomspalt (LKG) upplevde beskedet och den första tiden efter barnets födelse, samt hur de bemöttes av vårdpersonalen. Litteratursökningen genomfördes i Medline och totalt valdes 15 vetenskapliga artiklar ut till föreliggande studies resultat. Många föräldrar till barn med LKG befinner sig den första tiden efter beskedet i en utsatt situation, deras funderingar kan vara många och behovet av stöd kan vara stort. Föreliggande studie visade att en viktig faktor för föräldrarnas upplevelse och välmående var grundlig information och stöd till föräldrarna, givna av välutbildad och erfaren vårdpersonal och att de inte enbart såg till barnets missbildning utan även till barnets hälsa. Vid sjukhusvistelse borde vårdpersonalen uppmärksamma föräldrars eventuella behov av att få känna sig delaktiga i vården av sitt barn. Prenatal diagnos visade sig ha en positiv inverkan på föräldrarnas upplevelse av att få ett barn med LKG. Betydande för hur föräldrarna upplevde sin nya situation var vårdpersonalens attityd och ordval gentemot dem. Möjlighet till kontakt med psykolog eller kontakt med andra föräldrar till barn med LKG visade sig också betyda mycket för föräldrarna.</p> / <p>The aim of this study was to, from scientific articles, illustrate how parents with children born suffering from cleft lip and palate (CLP) reacted when informed of their childs diagnosis, how they experienced the first time period after the birth and the attitude and support from the caregivers. The 15 scientific articles used were found in Medline. Parents with children with CLP are at first in a vulnerable situation beacuse of their many questions and need of support. The result of this study showed that an important factor for the well-being of the parents was profound information and support from well-educated personnel which not only focused on the malformation of the child but also their health. During the hospitalization the caregivers should observe the possible needs the parents could have and how they could be involved in the care of their own child. Further, the result found that prenatal diagnosis had a positiv affect on the parents experience when having a child with cleft lip and palate. The result also proved that the caregivers attitude and their selection of words towards the parents was very important of how the parents experienced the situation. Another important aspect for the parents experience was the possibilty of contact with psychologist and other parents with children with CLP.</p>

<p>The Antiepilptic drugs (AEDs) phenytoin (PHT), carbamazepine (CBZ), phenobarbital (PB), tri- and dimethadione (TMD and DMD) are known teratogens having a common malformation pattern in human and animal studies. This thesis was designed chiefly to test a hypothesis correlating the teratogenicity of these AEDs to episodes of pharmacologically induced embryonic arrhythmia and hypoxia-reoxygenation damage.</p><p>Effects on the embryonic heart were studied both after maternal administration in mice and in</p><p>mouse embryos cultured in vitro. Only AEDs, correlated with the same type of malformation as could be induced by episodes of interrupted oxygen supply to the embryo (e.g. cleft palate) caused concentration dependent bradycardia and arrhythmia. PHT and DMD had the highest potential and affected embryonic heart at clinically relevant concentration, followed by CBZ, TMD and PB. Valproate and vigabatrin not associated with hypoxia-related malformations caused neither arrhythmia nor severe bradycardia.</p><p>The results showed that the embryonic heart is extremely susceptible to PHT and DMD only</p><p>during a restricted period of development, between gestational days 9-13 (weeks 5-9 of human pregnancy).An observed genetic susceptibility to react with arrhythmia at low concentrations when exposed to PHT or to external stress, could explain why A/J strain of mice is more susceptible to develop cleft palate compared to other strains. High activities of reactive oxygen species (ROS) capturing antioxidant enzymes observed in untreated A/J embryos supported this assumption. The potential to cause embryonic arrythmia by an AED was related to the potential to inhibit the rapid component of the delayed rectifier potassium channel (I _kr ).A marked I _kr blocking activity (70%)of DMD in voltage clamping studies was observed. The I _kr inhibition occurred at similar concentrations, which causes severe arrhythmia.</p><p>The idea of a relation between teratogenicity and arrhythmia, resulting in ischemia followed by reperfusion and generation of ROS was supported by mechanistic studies. Pre-treatment with the spin-trapping agent PBN, which has the capacity to capture ROS, markedly reduced the incidence of PHT and DMD-induced cleft palate. In utero exposure to teratogenic doses of DMD and PHT resulted in hemorrhages in the embryonic palatal region. The same type of haemorrhage in the palatal region precedes orofacial clefts induced by episodic hypoxia.</p>

Ultrasound is the primary modality for fetal imaging, but Magnetic Resonance Imaging nowadays has a valuable complementary role as it often reveals findings that alter pregnancy management. Knowledge on some clinically relevant areas of the normal fetal development is still lacking, and this was the aim of this project. We wanted 1) to obtain reference MRI data of normal brain measurements before 24 gestation weeks (GW), 2) to study the development of the hippocampus, 3) to study the development of the ear and 4) to test the ability of MRI for evaluating the lip and palate. For this, we retrospectively analysed a database with 464 in vivo and 21 post mortem fetal MRI examinations. Study I evaluated a series of 70 normal fetuses. A table of normal brain measurements from 17 to 23 GW was built, the first in the literature that includes ages below 20 GW. Study II focused on the evolution of the hippocampus from 18 to 38 GW by evaluating 3 post mortem and 60 in vivo MRI examinations. Our results suggested this area to develop later and more asymmetrically than previously thought. Study III analysed a series of 122 normal MRI in vivo and 16 MRI post mortem. We described the development of the fetal ear in vivo for the first time in the literature, realizing that the value of MRI is limited by the size of the structures evaluated. In study IV, 60 brain-targeted MRI examinations of 55 normal fetuses and 5 fetuses with orofacial clefts were blindly reviewed by two readers, focusing on the lips and palates. Our results suggest a high accuracy of MRI in the evaluation of this area, regardless of fetal age or previous ultrasound findings. This thesis brings new knowledge on the normal development of the fetal brain and cranium.

The Antiepilptic drugs (AEDs) phenytoin (PHT), carbamazepine (CBZ), phenobarbital (PB), tri- and dimethadione (TMD and DMD) are known teratogens having a common malformation pattern in human and animal studies. This thesis was designed chiefly to test a hypothesis correlating the teratogenicity of these AEDs to episodes of pharmacologically induced embryonic arrhythmia and hypoxia-reoxygenation damage. Effects on the embryonic heart were studied both after maternal administration in mice and in mouse embryos cultured in vitro. Only AEDs, correlated with the same type of malformation as could be induced by episodes of interrupted oxygen supply to the embryo (e.g. cleft palate) caused concentration dependent bradycardia and arrhythmia. PHT and DMD had the highest potential and affected embryonic heart at clinically relevant concentration, followed by CBZ, TMD and PB. Valproate and vigabatrin not associated with hypoxia-related malformations caused neither arrhythmia nor severe bradycardia. The results showed that the embryonic heart is extremely susceptible to PHT and DMD only during a restricted period of development, between gestational days 9-13 (weeks 5-9 of human pregnancy).An observed genetic susceptibility to react with arrhythmia at low concentrations when exposed to PHT or to external stress, could explain why A/J strain of mice is more susceptible to develop cleft palate compared to other strains. High activities of reactive oxygen species (ROS) capturing antioxidant enzymes observed in untreated A/J embryos supported this assumption. The potential to cause embryonic arrythmia by an AED was related to the potential to inhibit the rapid component of the delayed rectifier potassium channel (I kr ).A marked I kr blocking activity (70%)of DMD in voltage clamping studies was observed. The I kr inhibition occurred at similar concentrations, which causes severe arrhythmia. The idea of a relation between teratogenicity and arrhythmia, resulting in ischemia followed by reperfusion and generation of ROS was supported by mechanistic studies. Pre-treatment with the spin-trapping agent PBN, which has the capacity to capture ROS, markedly reduced the incidence of PHT and DMD-induced cleft palate. In utero exposure to teratogenic doses of DMD and PHT resulted in hemorrhages in the embryonic palatal region. The same type of haemorrhage in the palatal region precedes orofacial clefts induced by episodic hypoxia.

Syftet med denna studie var att, utifrån vetenskaplig litteratur, beskriva hur föräldrar till barn med läpp-, käk- och gomspalt (LKG) upplevde beskedet och den första tiden efter barnets födelse, samt hur de bemöttes av vårdpersonalen. Litteratursökningen genomfördes i Medline och totalt valdes 15 vetenskapliga artiklar ut till föreliggande studies resultat. Många föräldrar till barn med LKG befinner sig den första tiden efter beskedet i en utsatt situation, deras funderingar kan vara många och behovet av stöd kan vara stort. Föreliggande studie visade att en viktig faktor för föräldrarnas upplevelse och välmående var grundlig information och stöd till föräldrarna, givna av välutbildad och erfaren vårdpersonal och att de inte enbart såg till barnets missbildning utan även till barnets hälsa. Vid sjukhusvistelse borde vårdpersonalen uppmärksamma föräldrars eventuella behov av att få känna sig delaktiga i vården av sitt barn. Prenatal diagnos visade sig ha en positiv inverkan på föräldrarnas upplevelse av att få ett barn med LKG. Betydande för hur föräldrarna upplevde sin nya situation var vårdpersonalens attityd och ordval gentemot dem. Möjlighet till kontakt med psykolog eller kontakt med andra föräldrar till barn med LKG visade sig också betyda mycket för föräldrarna. / The aim of this study was to, from scientific articles, illustrate how parents with children born suffering from cleft lip and palate (CLP) reacted when informed of their childs diagnosis, how they experienced the first time period after the birth and the attitude and support from the caregivers. The 15 scientific articles used were found in Medline. Parents with children with CLP are at first in a vulnerable situation beacuse of their many questions and need of support. The result of this study showed that an important factor for the well-being of the parents was profound information and support from well-educated personnel which not only focused on the malformation of the child but also their health. During the hospitalization the caregivers should observe the possible needs the parents could have and how they could be involved in the care of their own child. Further, the result found that prenatal diagnosis had a positiv affect on the parents experience when having a child with cleft lip and palate. The result also proved that the caregivers attitude and their selection of words towards the parents was very important of how the parents experienced the situation. Another important aspect for the parents experience was the possibilty of contact with psychologist and other parents with children with CLP.