Zelita Caldeira Ferreira Guedes

Guidelines for the Management of Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is the prototype of the MPS disorders, a subgroup of lysosomal storage diseases. The incidence of MPS I in Brazil is unknown, but a retrospective population study in Australia conducted between 1980 and 1996 yielded an overall prevalence of 1 in 22 500 for all MPS types. 1 In British Columbia, cases ascertained between 1952 and 1986 determined that the frequency of MPS type I Hurler, the most severe form of the disease, was approximately 1 in 144 000 newborns, 2 a result similar to that found in The Netherlands. 3 A recent analysis of data collected by the Society for Mucopolysaccharides in the United Kingdom in patients with MPS I found a prevalence of 1.07 per 100 000 births. 4 MPS I is characterized by a deficiency in a-L-iduronidase enzyme activity, leading to buildup and urinary excretion of high levels of glycosaminoglycans (GAGs), specifically dermatan and heparan sulfates. The disease is genetically determined and shows autosomal recessive inheritance. 5,6 MPS

Sucção do recém-nascido prematuro: comparação do método Mãe-Canguru com os cuidados tradicionais

OBJETIVOS: comparar o processo de succao em recem-nascidos prematuros incluidos no metodo Mae-Canguru com recem-nascidos submetidos aos cuidados tradicionais. METODOS: foram selecionados 30 recem-nascidos prematuros com idade gestacional entre 30 e 35 semanas. A amostra foi constituida de dois grupos: Grupo 1, composto por 16 recem-nascidos inseridos no Alojamento Mae-Canguru da Maternidade Escola Assis Chateaubriand e Grupo 2, constituido por 14 recem-nascidos submetidos aos cuidados tradicionais, ou seja, Bercario de Medio Risco do Hospital Geral de Fortaleza. Todos os recem-nascidos foram avaliados, submetidos a intervencao fonoaudiologica e reavaliados durante a alta hospitalar. RESULTADOS: no Grupo 1 houve uma melhora significativa em relacao ao estado comportamental, sinais de estresse, coordenacao e ritmo de succao. O tempo de permanencia hospitalar foi consideravelmente menor. No Grupo 2 foi verificada uma melhora significativa em relacao a coordenacao entre succao, degluticao e respiracao. CONCLUSOES: os recem-nascidos de ambos os grupos foram beneficiados com a intervencao fonoaudiologica, no entanto, os melhores resultados foram referentes ao metodo Mae-Canguru. Verificou-se que esse metodo constitui uma otima alternativa para paises em desenvolvimento, pois contribui para a efetividade da amamentacao, diminuindo o tempo de permanencia hospitalar, acarretando menores custos para a saude publica.

Tempo de aleitamento materno exclusivo em recém-nascidos prematuros e a termo

OBJETIVOS: determinar o tempo de aleitamento materno exclusivo de recem nascidos prematuros e observar se estes apresentam um indice de aleitamento materno exclusivo diferente do apresentado pelo municipio de Maceio, na I e II Pesquisa de Prevalencia de Aleitamento Materno nas Capitais Brasileiras e no Distrito Federal. Alem de comparar o tempo de aleitamento materno e aleitamento materno exclusivo de recem nascidos prematuros e a termo e verificar as causas do desmame precoce e suas consequencias. METODO: trata-se de uma investigacao de campo, de carater exploratorio e longitudinal da prevalencia do aleitamento materno exclusivo de recem nascidos prematuro e a termo. RESULTADOS: o percentual de aleitamento materno e de aleitamento materno exclusivo de prematuros aos 6 meses. Houve diferenca significante para a variavel peso ao nascimento. Dentre as causas do desmame precoce, os fatores educacionais seguidos dos fatores culturais apareceram em maior porcentagem. Como consequencia do desmame precoce a pratica de habitos orais ocorreu em 98,1% das criancas. CONCLUSAO: as criancas prematuras permaneceram mais tempo em aleitamento materno e em aleitamento materno exclusivo que as nascidas a termo. Os fatores educacionais e culturais foram as principais causas do desmame precoce e sua consequencia foi o uso de chupeta e mamadeira.

Aspectos da fala de indivíduos com fissura palatina e labial, corrigida em diferentes idades

PURPOSE: to compare subjects with cleft palate who underwent surgical correction at different ages and determine which factors are most important in the speech alterations METHODS: the sample is composed of 29 subjects who were born with cleft palate and were submitted to surgical correction at different ages, without no other associated commitments(neurological, physical, psychological, etc.). These patients, 13 of masculine gender, and 16 of the feminine gender have ages varying from six to thirteen year old. The patients are of the clinic of Speech Therapy and the clinic of Plastic Surgery of the Sao Paulo Hospital that had still not entered in speech therapy. The speech, these patients were evaluated by test Phonology (Chapter 1 of ABFW, Test Language Playground) and were examined by nominating the speech of the subjects. The appointment was made through simple figures, which were shown to them. RESULTS: the results of this study regarding gender and type of cleft in the sample showed no statistically significant differences. Meanwhile, the late time when the restorative surgery occurred interferes in a negative way in the speech of these patients. CONCLUSIONS: based on the results obtained from the analysis of speech in subjects with cleft palate, we can conclude that one intervening factor important for their speech is the age in which the surgery had been carried through.

A study on the relationship between mouth breathing and facial morphological pattern

UNLABELLED Breathing is responsible for facial and cranial morphology development. AIM investigate in order to see if there is any relationship between oral breathing and facial type. MATERIAL AND METHODS 119 male and female teenagers, with ages ranging between 15 and 18 years. The sample was separated in two groups: A-50 teenage oral breathers, 28 males and 22 females; and group B- 69 teenage nasal breathers, 37 males and 32 females. The sample was collected at the Centro de Atendimento e Apoio ao Adolescente do Departamento de Pediatria da UNIFESP/ EPM. We evaluated breathing and facial measures. RESULTS by means of anthropometric indexes we classified facial types and associated them with the persons breathing type, Hypereuriprosopic (Total=0; oral breathers 0%; nasal breathers 0%; Euriprosopic (Total=14; oral breathers 2.52%, nasal breathers 9.24%;Mesoprosope (Total=20; oral breathers 19.32%; nasal breathers 21.01%, Leptoprosopic (Total=37; oral breathers 14.29%; nasal breathers 16.81%; Hyperleptoprosopic (Total =48; oral breathers 5.89% nasal breathers 10.92%). The mesoprosopic facial type was found in 48 teenagers (40.33%) of whom 25 (21.01%) were oral breathers and 23 (19.32%) were nasal breathers. CONCLUSION it was not possible to prove the existence of an association between oral breathing and facial type.

Estudo da mastigação e da deglutição em crianças e adolescentes com Sequência de Möbius

PURPOSE: To describe morphofunctional alterations in the functions of chewing and deglutition, to recognize the most accepted food consistency, and to evaluate the presence of compensatory maneuvers during deglutition, in children and adolescents with Mobius syndrome. METHODS: The subjects were eight children (three female and five male), with ages ranging from five to 15 years, diagnosed with Mobius syndrome. The children were evaluated during a feeding situation, where they were offered food with different consistencies: liquid, pasty and solid. Data were registered in an evaluation protocol adapted by Guedes, Shintani and Cabello (2003). RESULTS: Results showed a significant relation between tongue mobility condition and type of mastication. The variables speed of mastication and contraction of the masseter muscle were also dependents (p=0018), since there was no change in the speed of mastication when the contraction of the masseter was present. The cheese bread was the best solid consistency food for evaluation, because it produced a more cohesive and less widespread mass in the oral cavity. CONCLUSIONS: The morphofunctional alterations found in patients with Mobius syndrome contributed to change the dynamics of chewing and swallowing. All subjects in the sample used compensatory maneuvers. Therefore, even in the absence of clinical signs that suggest penetration/aspiration, patients with such diagnosis should be referred to speech therapy, in order to provide adequate conditions for a more pleasant meal.

Características da sucção não-nutritiva em RN a termo e pré-termo tardio

OBJETIVO: Comparar os parâmetros de succao nao nutritiva de recem-nascidos a termo e pre-termo tardio. METODOS: Os recem-nascidos foram divididos em dois grupos, pre-termo tardio (RNPT tardio) e a termo (RN a termo) e, submetidos a avaliacao da succao nao-nutritiva utilizando-se um protocolo adaptado da Escala de Avaliacao Motora Oral. Foi realizada analise estatistica para comparacao dos grupos. RESULTADOS: Os reflexos de procura e de succao foram menos frequentes nos RNPT tardio, comparados aos RN a termo, assim como a preensao palmar e maos em linha media. A maioria dos RNPT tardio apresentou sono leve ou estava sonolento antes da avaliacao. Os RNPT tardio apresentaram predominantemente succao esporadica ou grupos de succao com pausas longas e travamento e/ou tremores de mandibula. A retracao de lingua e a protrusao de lingua foram mais presentes nos RNPT tardio e o canolamento de lingua nos RN a termo. CONCLUSAO: Prontidao para a mamada, estado comportamental, postura corporal, padrao e forca de succao e movimentos de lingua foram os parâmetros menos frequentes nos RNPT tardio em relacao aos RN a termo.

Assessment of swallowing in preterm newborns fed by bottle and cup

Objetivo: Comparar o desempenho da degluticao com uso de copo e mamadeira em prematuros, na primeira oferta do alimento por via oral. Metodos: Estudo em prematuros de muito baixo peso ao nascer, sem comprometimento neurologico, sindromes geneticas ou malformacoes congenitas. Os recem-nascidos foram avaliados por meio da videofluoroscopia, com uso de copo e mamadeira, quando atingiram idade corrigida ≥34 semanas, peso ≥1.500 g e apresentavam indicacao de iniciar alimentacao por via oral. Todos receberam alimentacao exclusivamente por gavagem no periodo previo ao estudo. Resultados: Foram avaliados 20 prematuros, com peso medio de 1.356 g e idade gestacional ao nascimento de 31,3 semanas. Grande parte dos recem-nascidos alimentados por mamadeira (68%) apresentou succao forte e com ritmo e 63% mostraram boa coordenacao das funcoes succao/degluticao/respiracao. A mesma porcentagem de recem-nascidos alimentados pelo copo (68%) nao realizou o movimento de sorver e apenas 32% sorveram quantidades minimas de contraste liquido. Nao foram observados sinais de penetracao laringea e aspiracao traqueal em ambos os procedimentos. Conclusao: Na primeira oferta de alimento por via oral, recem-nascidos prematuros apresentaram melhor desempenho na degluticao com o uso da mamadeira em relacao ao copo.PURPOSE To compare the swallowing performance of premature infants using a cup and a bottle during the first offer of food by mouth. METHODS This study was carried out with preterm newborns who presented low weight at birth and no neurological illnesses, genetic syndromes or congenital malformations. The newborns were assessed by videofluoroscopy while using a cup and a bottle, when they reached a post-conceptual age of ≥34 weeks, weight ≥ 1,500 g and showed signs of readiness for oral feeding. All children were fed exclusively by gavage during the period prior to the study. RESULTS This study included 20 preterm newborns, with average birth weight of 1,356 g and gestational age of 31.3 weeks. The majority of the bottle-fed newborns (68%) presented strong and rhythmic suction and 63% showed good sucking/swallowing/breathing coordination. The same percentage of newborns fed by cup (68%) could not perform the sipping movement and only 32% could suck a minimal amount of liquid contrast. There were no signs of laryngeal penetration and tracheal aspiration in both procedures. CONCLUSION At the first oral feeding, preterm newborns showed better swallowing performance with a bottle in comparison to using a cup.

Estudo da qualidade de vida em indivíduos com paralisia facial periférica crônica adquirida

PURPOSE: to analyze quality of life in subjects with acquired chronic peripheral facial palsy. METHOD: 12 subjects with acquired facial palsy were selected through screening during the sequel, with etiologies of Bell and acoustic schwannoma after resection. The degree of acquired facial palsy was verified, as well as a closed questions interview about complaints with the facial movement was carried out, in order to check if there was interference from facial palsy in the social life of each subject. This was a cross-sectional study. Non-parametric Mann-Whitney and Fisher’s exact test, with significance level of 5%, were used in order to analyze the data. RESULTS: the degree of facial palsy were divided as it follows: I-II (Normal to mild dysfunction), III-IV (moderate to moderately severe dysfunction) and V-VI (complete palsy severe dysfunction), according to House & Brackmann. In the answers about difficulties in professional and personal activities, Bell’s palsy individuals with normal to mild dysfunction have no complaints, in moderate to moderately severe dysfunction all answered very severe complaints and in an individual with complete palsy reported a lot of complaints. In the acoustic Schwannoma individuals, in the group classified as mild dysfunction, all answered no damage complaints, while among those with severe to complete palsy, one individual reported a lot of complaints in professional and personal activities. CONCLUSION: the acquired chronic peripheral facial palsy interfered with quality of life in subjects with more severe degrees of palsy.

Möbius Syndrome: Misoprostol Use and Speech and Language Characteristics

Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy. Objective Verify if the speech and language performance of children with MS whose mothers reported use of misoprostol (Cytotec, Pfizer, Connecticut, USA) are different from the performance of children of mothers who did not report use. Methods The stomatognathic system beyond receptive and expressive language and speech was evaluated in children with MS, and their mothers were questioned whether they used misoprostol during the pregnancy. Results During the interview, 61.11% of mothers reported that they took misoprostol during the pregnancy. Most of the subjects (83.3%) whose mothers took misoprostol presented bilateral palsy beyond bad mobility of the tongue (90.9%) and speech disorders (63.6%). Conclusion The number of mothers who took misoprostol without knowing the risk for MS was great. The lack of facial expressions and speech disorders were common characteristics of the individuals with MS, whether the mothers took misoprostol during the pregnancy or not.