Genética e linguagem na síndrome de Williams-Beuren: uma condição neuro-cognitiva peculiar

TEMA: aspectos genéticos, cognitivos e de linguagem na Síndrome de Williams-Beuren (SWB). OBJETIVO: revisar a literatura sobre a SWB, destacando aspectos genéticos, cognitivos e de linguagem. CONCLUSÕES: a literatura mostrou que a etiologia da SWB é conhecida, embora o diagnóstico precoce pode ser difícil pela variabilidade de manifestações clínicas dessa condição. O fenótipo variável tem sido atribuído a deleção de vários genes na região 7q11.23. que inclui o gene da elastina. A deleção desse gene é identificada pelo estudo citogenético molecular denominado Hibridização in situ por Fluorescência (FISH). A freqüência populacional desta síndrome é de 1 em 20,000 nascimentos e é resultante de uma alteração genética de novo. O quadro da SWB é caracterizado principalmente por fácies típica conhecida como face de duende, alterações cardíacas, prejuízos cognitivos e aspectos comportamentais que incluem a linguagem. A característica falante e sociável associada as dificuldades viso-construtivas conferem a esta síndrome um quadro neuro-cognitivo peculiar. A deficiência mental é variável e pode ou não estar presente. Estudos que descreveram as habilidades de linguagem nesta síndrome destacaram que a habilidade sintática pode estar íntegra ou parcialmente íntegra, a produção verbal pode ser precisa e inteligível, mostrando a integridade do sistema fonológico. O vocabulário receptivo-auditivo é citado em alguns estudos como adequado e em outros como prejudicado para a idade mental. Pesquisas na área têm produzido, resultados incongruentes com respeito ao perfil de habilidades cognitivas e lingüísticas nos portadores dessa condição. A correlação entre as habilidades de linguagem e a cognição e a divergência de achados na literatura serão abordadas neste artigo.

Are Working Memory Measures Free of Socioeconomic Influence?

Purpose: This study evaluated the impact of socioeconomic factors on children's performance on tests of working memory and vocabulary.Method: Twenty Brazilian children, aged 6 and 7 years, from low-income families, completed tests of working memory ( verbal short-term memory and verbal complex span) and vocabulary ( expressive and receptive). A further group of Brazilian children from families of higher socioeconomic status matched for age, gender, and nonverbal ability also participated in the study.Results: Children from the low socioeconomic group obtained significantly lower scores on measures of expressive and receptive vocabulary than their higher income peers but no significant group differences were found on the working memory measures.Conclusion: Measures of working memory provide assessments of cognitive abilities that appear to be impervious to substantial differences in socioeconomic background. As these measures are highly sensitive to language ability and learning in general, they appear to provide useful methods for diagnosing specific learning difficulties that are independent of environmental opportunity.

Estudo de vocábulos para proposta de instrumento de avaliação do vocabulário de crianças não-oralizadas

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Estudo de vocábulos para avaliação de crianças com deficiência sem linguagem oral

Researchers in the field of Augmentative and Alternative Communication point out the lack of instruments for assessing children and young people with a complex communication needs. This study's focus is the selection of words for creating an instrument for the vocabulary range in non-speaking children aged two to eleven years and eleven months. Three studies were performed. The first study identified and described tools available for assessing receptive vocabulary and their respective word lists. The second identified and described research that presented word inventories or word lists. The third study identified the vocabulary reported by parents and teachers. The words that were identified in the three studies were analyzed according to: the number of times they occurred; the Picture Communication Symbols system classification; and a semantic and syntactic classification. Based on these studies the following criteria for vocabulary selection were established for word selection: the 45 words which appeared in all three studies, the words that occurred five times or more, considering the three studies, representing 167 (14.14%) words; the words identified in study one or two, but that had been reported by the families - 183 (19.37% out of 945 words) - or by teachers - 108 (11.43% out of 945 words). The word list was composed of 269 items, classified in 18 semantic and syntactic topics; it represents an initial tool for professionals in the field of health and education to set goals for beginning assessment of children and teenagers who are users of Augmentative and Alternative Communication systems.

Compreensão e produção oral de sentenças em crianças com deficiência auditiva pré-lingual usuárias de implante coclear

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Aprendizagem após via exclusão e formação de classes de equivalência em crianças com deficiência auditiva e implante coclear (aceito condicionalmente)

Studies on learning by exclusion have shown that participants tend to select a new object or a new figure when a new word is dictated, rejecting the objects and figures they already know or that were associated with other words. This study aimed at training conditional relations between dictated word-picture and between picture-printed word, by exclusion, and verify whether this training would be a condition for the emergence of relations between dictated word-printed word, printed word-figure, picture naming and reading. We also investigated whether responding to the words dictated with a female voice generalized to other frequencies such as male and child voices. Participants were five children between five and nine years old, with acute neurosensorial bilateral hearing impairment, users of cochlear implant Nucleus 24k®. They were exposed, individually, to tasks that consisted in selecting a comparison stimulus (either picture or printed word) related to the sample (either dictated word or picture). Words with lowest scores on a pre-test were used. The relations between dictated word-figure (AB) and figure-printed word (BC) were taught by exclusion. We assessed the emergence of the relations between dictated and printed words (AC), printed word and picture (CB), male and child voices generalization (A’C and A’’C), naming (BD) and reading (CD). All the children responded by exclusion and learned relations AB and BC, showing receptive vocabulary; AC and CB relations also were learned, consistent with class formation. Responding generalized to male and child voices, but data on naming were not systematic. Learning by exclusion was similar to that of children with typical hearing and these results describe some conditions that can improve receptive verbal repertoire.

Análise da fluência em tarefa de narrativa oral em indivíduos com síndrome del22q11.2

Pós-graduação em Fonoaudiologia - FFC

Adaptação transcultural do Preschool Language Assessment Instrument (PLAI-2) em falantes do português brasileiro com desenvolvimento típico de linguagem

Pós-graduação em Fonoaudiologia - FFC

A brief look at the least-squares approach as a classifier applied to restricted-vocabulary speech recognition

In this letter, a speech recognition algorithm based on the least-squares method is presented. Particularly, the intention is to exemplify how such a traditional numerical technique can be applied to solve a signal processing problem that is usually treated by using more elaborated formulations.

Structuring an ontology of the basic vocabulary of tourism

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)