Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

Secreção na orelha média em lactentes ocorrência, recorrência e aspectos relacionados

Objective: The present study aimed at evaluating the occurrence and recurrence of middle ear effusion and possible associated factors in the first two years of life of 190 newborns and infants, participants in the interdisciplinary prevention, detection, and intervention program at the Clínica de Educação para Saúde of Universidade do Sagrado Coração. Methods: Newborns and infants were monthly submitted to anamneses, otoscopy, behavioral hearing assessment using sound instruments and pure tones (pediatric audiometry) and tympanometry. Results: The results revealed that 68.4% of infants presented one or more episodes of middle ear effusion during their two first years, with more recurrence among males. Peak occurrence was between four and 12 months of age and, the earlier the first episode, the higher the probability of recurrence. Greatest incidence was during May and August. It was found that, of the variables investigated, the period of exclusive breastfeeding actuated as a protector factor. With respect of risk factors, it was observed that passive smoking, gastro-esophageal reflux and respiratory allergy were related with the recurrences of effusion. Conclusion: Findings revealed the importance of periodic auditory follow-up for infants during their first two years of life, considered to be the critical period of auditory system maturation, during which sensory deprivation can be responsible for damage to the development of speech, language and other auditory abilities. © 2007 Sociedad Chilena de Pediatría.

Desenvolvimento da oralidade em crianças de três a quatro anos: descrevendo jogos e brincadeiras que produzem novas formas de comportamento

The goal for this communication is the speech development in children three to four years, and how games and child's plays can help them in the process. For this, we have set three specific goals. They are: select games and activities that serve as a means of furthering the development of speech; elect three activities, making sure at what point is the extra step to the outbreak of the sign/symbol and identify at what time of play the child uses more talk and no change in psychological structure. These games have been applied to children from three to four years in order to identify and record their actions and speeches during activities. Acquiring the ability to speak, the kids will be able to communicate socially and develop new forms of behavior. From young children already expresses themselves through babbling and even crying, because do not have a conventional language yet. From the social relationship, the child tends to become familiar with the language, and gradually learn how to use it, expressing her feelings and desires. When the development of language and thought intersect, transform the course of action of the child who begins to have control of your action. Such its importance in society, the language became the basis of childhood education and is the duty of teachers and educators to appropriate the necessary encouragement to the child to develop or improve her language

Egocentric speech in the works of Vygotsky and Piaget: educational implications and representations by teachers

This paper presents an applied qualitative and quantitative study and seeks to understand egocentric speech according to Vygotsky and Piaget and, through a literature review, the educational implications of Vygotsky and Piaget’s ideas. Additionally, the representations of these ideas by fifteen teachers of basic education are investigated. It is important to understand egocentric speech in Vygotsky and Piaget. Despite the differences in how they conceive its nature, functions and implications, for both, egocentric speech is intrinsically linked to and facilitates our understanding of child development. Regarding the representation of teachers who criticized children who used egocentric language, when teachers established any negative consequences of such language, they attributed it to the affective and moral aspects as well as to cognition. However, their approach was more practically oriented than those found in the psychological theories addressed. Therefore, this study aids in understanding the limits and scope of teacher-training courses.

Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report

The aim of this study was to describe the trajectory and the outcomes of speech-language therapy in Prader-Willi syndrome through a longitudinal study of the case of an 8 year-old boy, along four years of speech-language therapy follow-up. The therapy sessions were filmed and documental analysis of information from the child's records regarding anamnesis, evaluation and speech-language therapy reports and multidisciplinary evaluations were carried out. The child presented typical characteristics of Prader-Willi syndrome, such as obesity, hyperfagia, anxiety, behavioral problems and self aggression episodes. Speech-language pathology evaluation showed orofacial hypotony, sialorrhea, hypernasal voice, cognitive deficits, oral comprehension difficulties, communication using gestures and unintelligible isolated words. Initially, speech-language therapy had the aim to promote the language development emphasizing social interaction through recreational activities. With the evolution of the case, the main focus became the development of conversation and narrative abilities. It were observed improvements in attention, symbolic play, social contact and behavior. Moreover, there was an increase in vocabulary, and evolution in oral comprehension and the development of narrative abilities. Hence, speech-language pathology intervention in the case described was effective in different linguistic levels, regarding phonological, syntactic, lexical and pragmatic abilities.