Luciana Paula Maximino

Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high‐resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10 Mb deletion of chromosome region 7q33‐35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering.

Telefonoaudiologia: Ciência e tecnologia em saúde

Background: distance learning (DL) is becoming a higher education modality with a meaningful impact. It offers students flexibility, mobility and choices. Also it can reach a greater number of professionals and students in a more effective way, when compared to other learning modalities, without losing quality. Brazil needs to develop direct actions to DL in the fields of Speech-Language Pathology and Hearing, due to its great continental territory (8,514,215.3Km²) and irregular distribution of professionals who work in these specific fields (i.e. this situation emphasizes the differences in quality and availability of services offered throughout the country). Heterogeneity in the quality and availability of services is also aggravated by the absence of a national strategy for continued education in order to recycle health professionals. This situation causes important differences in the knowledge and abilities of specialists from one region to the next. Aim: to present Telehealth studies in the field of Speech-Language Pathology and Hearing that were developed in the last five years. Conclusion: the analyzed data indicate that more studies are needed in this specific field. These studies should aim at improving the quality and access to services which in turn would improve prevention, diagnosis and treatment of communication disorders.

Novas tecnologias educacionais no ensino da Audiologia

OBJETIVO: elaborar, aplicar e avaliar um modelo de Teleducacao Interativa para o ensino da Audiologia, disciplina de Aparelhos de Amplificacao Sonora Individual. METODOS: participaram deste estudo 13 alunos do 2o ano do curso de Fonoaudiologia de uma universidade publica do municipio de Bauru-SP. O programa de Teleducacao Interativa foi elaborado, utilizando um tutor eletronico, o Cybertutor. Os participantes receberam uma senha de acesso ao conteudo teorico da disciplina. O prazo estabelecido foi de 30 dias, sendo que o aluno poderia acessar quantas vezes julgasse necessario. Para a avaliacao do programa foi realizada a aplicacao de dois questionarios, sendo um referente ao conteudo didatico-teorico da disciplina de Aparelhos de Amplificacao Sonora Individual e outro referente ao objeto de aprendizagem utilizado (Cybertutor). O questionario didatico-teorico avaliou a efetividade do programa na aprendizagem do aluno e foi aplicado em dois momentos distintos, ou seja, pre e pos-teste. O questionario referente ao Cybertutor abordou aspectos de aceitacao, viabilidade e interatividade. Para a analise dos resultados foi utilizado o teste Wilcoxon (p < 0,05) e dados percentuais. RESULTADOS: a diferenca estatisticamente significante encontrada na comparacao pre e pos-teste com p=0,016, demonstra que o Cybertutor proporcionou o aprendizado do aluno de graduacao na area da Audiologia, disciplina de Aparelho de Amplificacao Sonora Individual. Quanto a avaliacao do Cybertutor, verificou-se que 100% dos alunos consideram-no explicativo, e de facil entendimento. CONCLUSAO: o programa de Teleducacao Interativa mostrou-se efetivo como material educacional no processo ensino-aprendizagem da Audiologia.

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri‐Costa–Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex‐ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named “Vale do Ribeira.” The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown.

A elaboraçao de um ambiente virtual de aprendizagem em síndromes genéticas

Purpose: to develop a virtual learning environment (VLE) for elementary school students about genetic syndromes. Method: VLE, known as Cybertutor enables student learning through the Internet interactively. The methodology of this study consisted of two stages, the development and availability of the VLE. The development of educational content, graphic and audiovisual Cybertutor’s counted on the help of a geneticist at the HRAC/USP and scientific information available in books, articles, thesis and national and international dissertations. The Cybertutor was available on the platform of the Young Doctor Project (http://www.jovemdoutor.org.br/jdr/) by the technical staff of DTM/FMUSP. Results: elaborated Cybertutor enabled the structure of educational content, graphics and audiovisual topics, to insert reinforcing issues, mailing list and check the performance of students. Conclusion: the VLE developed can be an important tool for health education in Genetic Syndromes, covering various regions of the country.

Perfil de usuários de AASI com fissura labiopalatina

Afissura labiopalatina, por provocar alteracoes nas estruturas do labio e do palato, pode causar comprometimento auditivo, devido as otites medias recorrentes. O tratamento mais adequado e controverso, podendo ser indicado o uso de antibioticos e insercao do tubo de ventilacao, ou o acompanhamento otorrinolaringologico, audiologico e reabilitacao aural, com uso de aparelho de amplificacao sonora individual (AASI). OBJETIVO: Caracterizar o perfil dos pacientes com fissura labiopalatina e deficiencia auditiva, adaptados com AASI e acompanhados pelo setor de Otorrinolaringologia e Fonoaudiologia de um hospital especializado em anomalias craniofaciais e deficiencia auditiva. Estudo Retrospectivo. MATERIAL E METODO: Analise retrospectiva de 131 prontuarios de pacientes com fissura labiopalatina operada e deficiencia auditiva, adaptados com AASI pelo referido centro. RESULTADOS: O perfil geral (n=131) caracterizou-se pela predominância do genero feminino (53%), fissura transforame incisivo unilateral (27%), presenca de anomalias associadas (51%), historico de alteracoes de orelha media (56%) e intervencao cirurgica (56%). CONCLUSAO: O perfil geral dos pacientes com fissura labiopalatina e deficiencia auditiva, adaptados com AASI, caracterizou-se pela predominância da fissura de labio e palato, historico positivo de alteracao de orelha media, intervencao cirurgica e deficiencia auditiva sensorioneural bilateral.

Apert and Crouzon syndromes—cognitive development, brain abnormalities, and molecular aspects

Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain‐of‐function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain‐of‐function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940–2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS).

Aspectos éticos e legais na prática da Telessaúde em Fonoaudiologia

ABSTRACT The technological resources enable actions even if people are physically and temporally distant, creating a new form of contact, which breaks away traditional regulations and standards. This way, the knowledge of the current legislation, as well as the reflection about ethical matters of each occupation are indispensable to guide Telehealth. There are significant differences regarding these practices in different countries, in addition to the many health areas, being recommended the solid analysis of the legislation pertinent to each profession and jurisdiction. In Brazil, the Speech-Language Pathology and Audiology Federal Council, the agency which defines the norms and actions that guide the professional exercise, regulated the practice of Telehealth in Speech-Language Pathology and Audiology through Resolution. Aspects related to secrecy, confidentiality and to the privacy of the information generated by the Telehealth practices should be taken into account. In a country with great territorial extension, such as Brazil, the use of communication technology can help decreasing the inequalities observed. The practices of Telehealth have increased in the country, and in order to, like other existing practices, be guided by legal and ethical criteria, it is necessary that the professionals involved extend the discussions. In addition to the professionals, the engaging of the Regional and Federal Agencies and of the scientific society is considerably important in directing the discussion of the performance of Telehealth.

Evaluating a Speech-Language Pathology Technology

BACKGROUND The creation of new educational strategies based on technology is the essence of telehealth. This innovative learning is an alternative to promote integration and improve the professional practices in speech-language pathology (SLP). The objective of this study was to evaluate an SLP technology designed for distance learning. MATERIALS AND METHODS The survey selected fourth-year SLP students (n=60) from three public universities in the state of São Paulo, Brazil. The experimental group (EG) contained 10 students from each university (n=30), and the remaining students formed the control group (CG). Initially, both groups answered a preprotocol questionnaire, and the EG students received the technology, the recommendations, and the deadline to explore the material. In the second stage all students answered the postprotocol questionnaire in order to evaluate the validity and the learning of the technology contents. RESULTS The comparison between the CG students showed that their performance worsened in the majority in comparison with the EG students, who showed an improved performance. CONCLUSIONS Therefore, this study concluded that the technology instrument actually responded to the population studied and is recommended to complement traditional teaching.

Programa de educação em síndromes genéticas: avaliação motivacional de um material educacional on line

Purpose: to evaluate the motivational aspects of an material e-learning known as Cybertutor on genetic syndromes for elementary school students.Methods: 21 students of the 9 th grade in the city of Bauru participated in the study. After 30 days of access Cybertutor, was used a Web Site Motivational Analysis Checklist adapted (FPM) to assess motivational aspects of this tool. The questionnaire is composed of 32 statements grouped into four domains: stimulating, meaningful, organized and easy-to-use.Results: all participants evaluated positively material e-learning developed, considering it as “impressive.” The Friedman Test found statistically significant differences between the domains, with p = 0.002239. The comparison between the individual domains, shows significant results in the scoring area organized.Conclusion: Cybertutor on genetic syndromes developed received high motivational satisfaction. Thus, we conclude that this material e-learning can be used as a strategy of health education on this theme.