Oral cleft prevention program (OCPP).

BACKGROUND: Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. METHODS/DESIGN: This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4 mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. DISCUSSION: The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women. CLINICALTRIALS.GOV IDENTIFIER: NCT00397917.

Using the Macarthur Communicative Development Inventories (CDI'S) to assess the lexical development of cochlear implanted children.

BACKGROUND: Clinical demands motivated the use of the adapted form of The Macarthur Communicative Development Inventories (CDI'S) to assess the lexical development of cochlear implanted children (CI). AIM: To present the application of Part I of the Protocol of Words and Sentences, adapted to the Brazilian Portuguese language, to follow lexical development. METHOD: Two children, with ages of 2.3 and 3.9 years, implanted at 18 and 36 months respectively, were investigated. RESULTS: Linguistic elements that have a function and/or meaning that are predominantly syntactic are used later than elements that have a concrete meaning. CONCLUSION: The inventory of words facilitated the follow up of the lexical development of the children in this study.

High dosage folic acid supplementation, oral cleft recurrence and fetal growth.

OBJECTIVES: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. PATIENTS AND METHODS: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4 and 4 mg per day before pregnancy and throughout the first trimester. The infant outcome data were based on 234 live births. In addition to oral cleft recurrence, several secondary outcomes were compared between the two folic acid groups. Cleft recurrence rates were also compared to historic recurrence rates. RESULTS: The oral cleft recurrence rates were 2.9% and 2.5% in the 0.4 and 4 mg groups, respectively. The recurrence rates in the two folic acid groups both separately and combined were significantly different from the 6.3% historic recurrence rate post the folic acid fortification program for this population (p = 0.0009 when combining the two folic acid groups). The rate of cleft lip with palate recurrence was 2.9% in the 0.4 mg group and 0.8% in the 4 mg group. There were no elevated fetal growth complications in the 4 mg group compared to the 0.4 mg group. CONCLUSIONS: The study is the first double-blinded randomized clinical trial (RCT) to study the effect of high dosage folic acid supplementation on isolated oral cleft recurrence. The recurrence rates were similar between the two folic acid groups. However, the results are suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate. A RCT is still needed to identify the effect of folic acid on oral cleft recurrence given these suggestive results and the supportive results from previous interventional and observational studies, and the study offers suggestions for such future studies. The results also suggest that high dosage folic acid does not compromise fetal growth.

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil.

OBJECTIVE: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. RESULTS: Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. CONCLUSIONS: Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.

Achados audiológicos em indivíduos com distrofia miotônica de Steinert / Audiologic findings in individuals with Steinert's myotonic dystrophy

Objetivo: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert. Métodos: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. Resultados: O estudo demonstrou que 60 por cento da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10 por cento perda condutiva e 30 por cento perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30 por cento nas freqüências de 0,5 e 1 kHz e de 40 por cento em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10 por cento da amostra nas freqüências de 0,5 e 1 kHz. Conclusão: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30 por cento da amostra.

Purpose: To identify the main hearing disorders in individuals with Steinert's myotonic dystrophy. Methods: Five individuals were submitted to tonal and vocal audiometry, acoustic impedance tests, examination of Eustaquian tube function, acoustic reflex investigation,and acoustic reflex decay. They also answered two questionnaires: a) Performance of auditory function; b) Psycho-acoustic-social investigation. Results: The study showed that 60 percent of the sample presented normal hearing thresholds, 10 percent had conductive hearing loss and 30 percent had hearing loss in high frequencies. Concerning acoustic reflexes, it was observed that 30 percent of the subjects presented deficits at 0.5 and 1 kHz and 40 percent at 2 and 4 kHz. Acoustic reflex decay was observed in 10 percent of the sample at 0,5 and 1 kHz. Conclusion: The study showed that the typical auditory profile of high-frequencies hearing loss was observed in 30 percent of the sample.

Conhecimento dos pais de crianças surdas sobre a reabilitação auditiva: uma experiência em Salvador / Knowledge of parents of deaf children concerning hearing rehabilitation: an experience in the city of Salvador

Este trabalho investigou o nível do conhecimento de 29 familiares de crianças surdas de uma escola especial sobre a reabilitação auditiva. O instrumento elaborado para esta pesquisa permitiu conhecer a realidade socioeconômica, a história audiológica e o nível de informação dos familiares sobre o tema. Os resultados, respectivamente, apontaram que: 82,8por cento possuem renda de 1 a 2 salários mínimos; 72por cento dos pais apresentaram o primeiro grau completo; 79,3por cento diagnóstico entre 0 a 2 anos; 41,9por cento etiologias desconhecidas; 70por cento perdas severas e profundas; 100por cento estudam em uma escola especial; 55,17por cento desconhecem as habilidades auditivas; 48,28por cento não sabem a importância do Aparelho de Amplificação Sonora Individual (AASI), conhecem apenas rubéola, meningite e drogas abortivas como etiologias; 58,62por cento apontaram apenas os problemas comportamentais e 100por cento não sabem sobre o processo da reabilitação. Os dados corroboraram a necessidade de se efetivarem as políticas públicas de saúde auditiva que também incentivem programas de reabilitação oral. Dessa forma, o deficiente auditivo terá mais um recurso para a promoção de seu desenvolvimento global, podendo dispor da linguagem oral ou LIBRAS.

This study investigated the knowledge level of 29 family members of deaf children in a special education school regarding hearing rehabilitation. The instrument elaborated for this research allowed to recognize the socioeconomic reality, hearing history, and the level of information of the family members about this subject. The results illustrated that 82.8% of the family members had an income of 1 to 2 minimum salaries; 72% of the parents had completed an elementary education; 79.3% were diagnosed between 0 and 2 years of age; 41.9% had unknown etiologies; 70% had profound and severe hearing loss; 100% study in a special education school; 55.17% are unaware of the hearing abilities; 48.28% do not know the importance of the Individual Sonora Hearing Aids (AASI), only familiar with rubella, meningitis, and abortive drugs as etiologies; 58.62% only recognized the behavior problems, and 100% were unaware of the rehabilitation process. The data corroborated for the necessity to implement public health hearing policies that also encourage oral rehabilitation programs. In this manner, the hearing disabled will have more resources for the promotion of their global development, being able to take advantage of oral languages or LIBRAS.

Do balbucio à fala: reflexões sobre a importância das atividades linguísticas iniciais e o desenvolvimento da linguagem oral em crianças com deficiência auditiva / From babbling to speech: the role of linguistics activities and the inicial development of oral language to hearing impaired children

Objetiva estabelecer conexões sensório-motoras nos primeiros meses de vida se dá em grande parte por meio do balbucio, visto como fator determinante para que a fala se desenvolva de modo favorável

Using the Macarthur Communicative Development Inventories (CDI'S) to assess the lexical development of cochlear implanted children

Tema: necessidades de ordem clínica motivaram a utilização dos Inventários Macarthur de Desenvolvimento Comunicativo (CDI'S) na avaliação do desenvolvimento lexical de crianças usuárias de implante coclear (IC) multicanal. Objetivo: apresentar a utilização da Parte I do Protocolo Palavras e Setenças adaptado ao português brasileiro (PB), para o acompanhamento do desenvolvimento lexical. Método: Estudou-se o caso de duas crianças usuárias de IC com idades de 2,3 e 3,9; implantadas aos 18 e 36 meses, respectivamente. Resultados: os elementos lingüísticos com funções e/ou sentido predominantemente sintáticos são usados mais tardiamente do que os elementos com significado concreto. Conclusão: o inventário de palavras facilitou o acompnhamento do desenvolvimento lexical das crianças nesse estudo.

Percepção das condições auditivas pelos servidores públicos da Universidade do estado da Bahia: considerações sobre o projeto saúde auditiva / Investigation of auditory conditions in public workers of University of the state of the Bahia: considerations about auditory health project

Os estudos sobre os danos auditivos à saúde de trabalhadores têm sido quase que exclusivamente voltados para os riscos de exposições ao ruído. O progresso nas diversas áreas do conhecimento humano vem criando cada vez mais uma sociedade ruidosa. A chamada poluição sonora é a mais difundida forma de poluição no mundo moderno. O ruído é considerado como o mais freqënte entre os agentes nocivos à saúde, nos ambientes de trabalho. Admite-se que, apesar de estar se tornando um problema crescente, o reconhecimento da perda auditiva induzida pelo ruído não é universal. O ruído é, ainda, caracterizado como o fator mais prevalente na origem de doenças ocupacionais e também como o agente físico nocivo à saúde mais comum nos ambientes de trabalho. Todos estamos sujeitos à exposição a sons potencialmente nocivos ao aparelho auditivo no dia-a-dia, sendo aceito que a perda auditiva induzida pelo ruído seja a maior causa isolada de perda auditiva factível de prevenção. O presente estudo teve como objetivo principal fundamentar ações em relação à conservação auditiva do trabalhador público dentro de sua própria função. A Saúde Auditiva é uma forma de prevenir, cuidar, zelar e tratar da audição. Esse estudo se caracteriza como o primeiro passo para a implantação de um programa de Saúde Auditiva na região do Cabula, Salvador-Bahia. Constatou-se que dentre os servidores da Universidade, das mais diversas funções, existe 77,5por cento de indivíduos considerados de risco para perda auditiva, ou seja com alguma probabilidade de terem um comportamento auditivo. A partir dos resultados foi elaborada uma cartilha educativa, além do encaminhamento do servidor para os serviços de diagnóstico audiológico disponíveis na comunidade.