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). © 2016 Wiley Periodicals, Inc.

Ações de teleducação interativa em saúde vocal baseadas na dinâmicado projeto jovem doutor / Activities of interactive teleducation in vocal health based on the young doctor dynamics

Introdução: as ações de promoção da saúde vocal devem atingir a população infantil, adulta e idosa, diante dos riscos que todos apresentam em desenvolver disfonia. Neste sentido, o Projeto Jovem Doutor propõe dinâmicas de capacitação para que adolescentes se tornem aptos a disseminar conhecimentos a respeito de temas em saúde para a comunidade. Objetivo: construir e avaliar o conteúdo de um Cybertutor, compondo um programa de capacitação sobre saúde vocal, seguindo a proposta do Projeto Jovem Doutor. Métodos: O Cybertutor de saúde vocal foi elaborado a partir da literatura científica. Posteriormente avaliado pelo Índice de Facilidade de Leitura de Flesch (IFLF) e por 14 alunos do ensinomédio de duas escolas. Esses alunos participaram do programa de capacitação, que consistiu de duas aulas presenciais, acesso ao cybertutor e oficina. Resultados: Os módulos obtiveram média geral de56,68% (dp±8,15) do IFLF caracterizado como nível Padrão. Quanto à avaliação subjetiva, 89,61% dos alunos classificaram a qualidade do cybertutor como excelente/satisfatório, sendo que os itens qualidadedas figuras e organização do conteúdo foram classifi cados como excelente/satisfatório em 100% da amostra. Completadas as atividades, os alunos receberam um jaleco e certificado, intitulando-os de Jovens Doutores, havendo disseminado o conhecimento adquirido para 1300 pessoas da comunidade. Conclusão: a construção e avaliação do cybertutor em saúde vocal expressou a linguagem no nível Padrão e alta satisfação dos alunos. O programa possibilitou a transmissão das informações sobre saúde vocal a um número expressivo de pessoas da comunidade pela ação intensa dos ?Jovens Doutores?...

Introduction: activities of vocal health promotion must reach the young, adult and elderly populations due to risks that everyone presents in the development of Dysphonia. In this purpose, the Young DoctorProject proposes dynamics of training to turn adolescents capable of disseminating, to the community, knowledge about health themes. Objective: to create and evaluate the content of a Cybertutor, composinga training program about vocal health, following the Young Doctor proposal. Methods: the cybertutor on vocal health was developed from the scientific literature. Subsequently, was evaluated by the Flesch Reading Facility Index (FRFI) and by 14 students of high school of two different schools. Those students participated of a training program, consisting in two classroom lectures, cybertutor access and workshop. Results: the modules obtained overall average of 56.68% (sd±8,15) of the FRFI featured as Standard level. Concerning the subjective assessment, 89.61% of students classifi ed the cybertutor quality as excellent/satisfactory, regarding that the items ?figures quality? and ?content organization? were classified as excellent/satisfactory in 100% of sample. In the end of the activities, the students received a white coat and a certificate were, named Young Doctors, disseminating the acquired knowledge to 1300 community people. Conclusion: the creation and evaluation of the cybertutor on vocal health expressed language in the Standard level and high satisfaction of students. The program enabled the communication of information about vocal health to an expressive number of community people by the intense action of the ?Young Doctors?...

Introducción: las acciones de promoción de la salud vocal deben ser llevadas a la población infantil, adulta y anciana delante de los riesgos que todos presentan para desarrolar disfonía. En este sentido, el Proyecto Joven Doctor propone dinámicas de capacitación para que adolescentes se vuelvan aptos para difundir el conocimiento sobre temas de salud para la comunidad. Objetivo: construir y evaluar el contenido de un Cybertutor, componiendo un programa de capacitación sobre la salud vocal, siguiendola propuesta del Proyecto Joven Doctor. Métodos: el Cybertutor de la salud vocal fue elaborado a partir de la literatura científica. Posteriormente evaluado por el Índice de Facilidad de Lectura Flesch (IFLF) y por 14 estudiantes de enseñanza media de dos escuelas. Estos estudiantes participaron del programa de capacitación que fue compuesto por dos clases, acceso al Cybertutor y un taller. Resultados: Los módulos obtuvieron media general de 56,68% (dp±8,15) del IFLF caracterizado como nivel Patrón. En la evaluación subjetiva, 89,61% de los estudiantes calificaron la calidad del Cybertutor como excelente/ satisfactorio, y la calidad de las figuras y organización del contenido se clasifican como excelente/ satisfactorio en 100% de la muestra. Terminadas las actividades, los estudiantes recibieron un guardapolvo y certificado, dándole el título Jóvenes Doctores, que difundieron los conocimientos adquiridos para 1300 personas de la comunidad. Conclusión: La construcción y evaluación del Cybertutor en la salud vocal expreso el lenguaje en el nivel Patrón y alta satisfacción de los alumnos. El programa permitió la transmisión de informaciones sobre la salud vocal para un número significativo de personas de la comunidad por la intensa acción de los ?Jóvenes Doctores?...

Ações de teleducação interativa em saúde vocal baseadas na dinâmicado projeto jovem doutor / Activities of interactive teleducation in vocal health based on the young doctor dynamics

Introdução: as ações de promoção da saúde vocal devem atingir a população infantil, adulta e idosa, diante dos riscos que todos apresentam em desenvolver disfonia. Neste sentido, o Projeto Jovem Doutor propõe dinâmicas de capacitação para que adolescentes se tornem aptos a disseminar conhecimentos a respeito de temas em saúde para a comunidade. Objetivo: construir e avaliar o conteúdo de um Cybertutor, compondo um programa de capacitação sobre saúde vocal, seguindo a proposta do Projeto Jovem Doutor. Métodos: O Cybertutor de saúde vocal foi elaborado a partir da literatura científica. Posteriormente avaliado pelo Índice de Facilidade de Leitura de Flesch (IFLF) e por 14 alunos do ensinomédio de duas escolas. Esses alunos participaram do programa de capacitação, que consistiu de duas aulas presenciais, acesso ao cybertutor e oficina. Resultados: Os módulos obtiveram média geral de56,68% (dp±8,15) do IFLF caracterizado como nível Padrão. Quanto à avaliação subjetiva, 89,61% dos alunos classificaram a qualidade do cybertutor como excelente/satisfatório, sendo que os itens qualidadedas figuras e organização do conteúdo foram classifi cados como excelente/satisfatório em 100% da amostra. Completadas as atividades, os alunos receberam um jaleco e certificado, intitulando-os de Jovens Doutores, havendo disseminado o conhecimento adquirido para 1300 pessoas da comunidade. Conclusão: a construção e avaliação do cybertutor em saúde vocal expressou a linguagem no nível Padrão e alta satisfação dos alunos. O programa possibilitou a transmissão das informações sobre saúde vocal a um número expressivo de pessoas da comunidade pela ação intensa dos ?Jovens Doutores?.(AU)

Introduction: activities of vocal health promotion must reach the young, adult and elderly populations due to risks that everyone presents in the development of Dysphonia. In this purpose, the Young DoctorProject proposes dynamics of training to turn adolescents capable of disseminating, to the community, knowledge about health themes. Objective: to create and evaluate the content of a Cybertutor, composinga training program about vocal health, following the Young Doctor proposal. Methods: the cybertutor on vocal health was developed from the scientific literature. Subsequently, was evaluated by the Flesch Reading Facility Index (FRFI) and by 14 students of high school of two different schools. Those students participated of a training program, consisting in two classroom lectures, cybertutor access and workshop. Results: the modules obtained overall average of 56.68% (sd±8,15) of the FRFI featured as Standard level. Concerning the subjective assessment, 89.61% of students classifi ed the cybertutor quality as excellent/satisfactory, regarding that the items ?figures quality? and ?content organization? were classified as excellent/satisfactory in 100% of sample. In the end of the activities, the students received a white coat and a certificate were, named Young Doctors, disseminating the acquired knowledge to 1300 community people. Conclusion: the creation and evaluation of the cybertutor on vocal health expressed language in the Standard level and high satisfaction of students. The program enabled the communication of information about vocal health to an expressive number of community people by the intense action of the ?Young Doctors?.(AU)

Introducción: las acciones de promoción de la salud vocal deben ser llevadas a la población infantil, adulta y anciana delante de los riesgos que todos presentan para desarrolar disfonía. En este sentido, el Proyecto Joven Doctor propone dinámicas de capacitación para que adolescentes se vuelvan aptos para difundir el conocimiento sobre temas de salud para la comunidad. Objetivo: construir y evaluar el contenido de un Cybertutor, componiendo un programa de capacitación sobre la salud vocal, siguiendola propuesta del Proyecto Joven Doctor. Métodos: el Cybertutor de la salud vocal fue elaborado a partir de la literatura científica. Posteriormente evaluado por el Índice de Facilidad de Lectura Flesch (IFLF) y por 14 estudiantes de enseñanza media de dos escuelas. Estos estudiantes participaron del programa de capacitación que fue compuesto por dos clases, acceso al Cybertutor y un taller. Resultados: Los módulos obtuvieron media general de 56,68% (dp±8,15) del IFLF caracterizado como nivel Patrón. En la evaluación subjetiva, 89,61% de los estudiantes calificaron la calidad del Cybertutor como excelente/ satisfactorio, y la calidad de las figuras y organización del contenido se clasifican como excelente/ satisfactorio en 100% de la muestra. Terminadas las actividades, los estudiantes recibieron un guardapolvo y certificado, dándole el título Jóvenes Doctores, que difundieron los conocimientos adquiridos para 1300 personas de la comunidad. Conclusión: La construcción y evaluación del Cybertutor en la salud vocal expreso el lenguaje en el nivel Patrón y alta satisfacción de los alumnos. El programa permitió la transmisión de informaciones sobre la salud vocal para un número significativo de personas de la comunidad por la intensa acción de los ?Jóvenes Doctores?.(AU)

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.

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.

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

OBJECTIVE: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. DESIGN: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. RESULTS: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. CONCLUSIONS: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.