Analysis of speech fluency in Williams syndrome

Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure – a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus – the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS.Conselho Nacional de Desenvolvimento Cientı´fico e Tecnolo´ gico (CNPq, Process GM/GD 141307/2006-4, MCT/CNPq 14/2009-474092/2009-7), Brazil, Coordenac¸a˜o de Aperfeic¸oamento de Pessoal de Nı´vel Superior (CAPES) - Programa de Doutorado no Paı´s com Esta´ gio no Exterior (PDEE, Process 1551/08-6), Brazil and Fundac¸a˜o para a Cieˆncia e Tecnologia (FCT, Process PTDC/PSI-PCL/115316/2009), Portuga

Cultural adaptation of the Test of Narrative Language (TNL) into Brazilian Portuguese

Purpose: To accomplish the translation and cultural adaptation of the Test of Narrative Language (TNL) into Brazilian Portuguese. Methods: The TNL is a formal instrument which assesses narrative comprehension and oral narration of children between the ages of 5-0 and 11-11 (years-months). The TNL translation and adaptation process had the following steps: (1) translation into the target language; (2) summary of the translated versions; (3) back-translation; (4) checking of the conceptual, semantics and cultural equivalence process and (5) pilot study (56 children within the test age range and from both genders). Results: The adapted version maintained the same structure as the original version: number of tasks (both, three comprehension and oral narration), narrative formats (no picture, sequenced pictures and single picture) and scoring system. There were no adjustments to the pictures. The “McDonald’s Story” was replaced by the “Snack Bar History” to meet the semantic and experiential equivalence of the target population. The other stories had semantic and grammatical adjustments. Statistically significant difference was found when comparing the raw score (comprehension, narration and total) of age groups from the adapted version. Conclusion: Adjustments were required to meet the equivalence between the original and the translated versions. The adapted version showed it has the potential to identify differences in oral narratives of children in the age range provided by the test. Measurement equivalence for validation and test standardization are in progress and will be able to supplement the study outcomes

Insertion of speech and language therapy undergraduate students, from a public university, in communication disorder graduate programs

OBJETIVO: caracterizar a inserção de egressos do Curso de Fonoaudiologia da Universidade Estadual Paulista (UNESP) - Marília, em Programas de Pós-Graduação (PPG) Stricto Sensu brasileiros. MÉTODO: foram utilizadas listas de graduados e Curriculum Vitae do egresso e do orientador. RESULTADOS: dos 537 formados, 16,57% cursaram/estavam cursando PPG e destes, 98,88% em mestrado e 37,08% também em doutorado. Na grande área de conhecimento, 50% dos egressos de mestrado vincularam-se predominantemente a programas em Ciências da Saúde, 31,80% em Ciências Humanas e 13,64% em Linguística, Letras e Artes. No doutorado, 33, 33% em Ciências Humanas, 30,30% em Ciências da Saúde e em Linguística, Letras e Artes. Quanto à área de conhecimento, predominou a vinculação, no mestrado, de 30,68% em Fonoaudiologia, 28,41% em Educação, 13,64% em Linguística e 9,09% em Medicina I; e, no doutorado, de 33,33% em Educação, 30,30% em Linguística e 9,09% em Fonoaudiologia; 55,68% dissertações e 51,52% teses focalizaram a linguagem. A UNESP predominou com 39,77% no mestrado e 48,48% no doutorado. Predominou a vinculação a Programas com conceito 4 para 52,27% dos egressos do mestrado e 45,45% do doutorado. Quando constou a informação (55,68%), todos receberam fomento. O Teste de Razão de Verossimilhança não indicou diferenças significativas dos percentuais obtidos entre o mestrado e o doutorado. CONCLUSÃO: os resultados superaram os apresentados para o mesmo Estado, mostraram a característica interdisciplinar da Ciência Fonoaudiológica e o predomínio de temática em linguagem.PURPOSE: to characterize the insertion of undergraduate students from a Speech and Language Therapy Course at São Paulo State University - UNESP in Graduate Programs. METHOD: we used a list and the Curriculum Vitae of these students and their respective mentors. RESULTS: of the 537 graduates, 16.57% attended/were attending Graduate Programs, and of these, 98.88% were working at a Master Program and 37.08% at a Doctoral. Regarding the broad area of knowledge, 50% of master's students were enrolled in Health Science programs, 31.80% in Humanities and 13.64% in Linguistics. For doctoral level, 33, 33% were enrolled in Humanities and 30.30% in Health Sciences as well as in Linguistics. Regarding the knowledge specific area, 30.68% of Master's students were enrolled in Speech Pathology programs, 28.41% in Education, 13.64% in Linguistics and 9.09% in Medicine I. For doctorate level, 33.33% were enrolled in Education programs, 30.30% in Linguistics and 9.09% in Speech Pathology. Additionally, 55.68% dissertations and 51.52% thesis were focused on the language area. UNESP was the university that most attended: 39.77% and 48.48% students in master and doctoral programs, respectively. Among the overall students, 52.27% from master and 45.45% from doctoral levels were linked to programs with concept grade 4. When the information was available, all received scholarship. Test of Reason of Probabilities did not show significance differences between master and doctoral levels. CONCLUSION: findings were higher than previously reported for the same state, showing the highly interdisciplinary nature of the field of Communication Disorders, and the predominance of "Language" as the studied theme

Clinical, cognitive, behavioral and communicative features of Smith-Magenis syndrome

TEMA: o objetivo deste estudo foi descrever os aspectos clínico, comportamental, cognitivo e comunicativo de indivíduos com o diagnóstico genético da Síndrome Smith-Magenis. PROCEDIMENTOS: participaram dois indivíduos do sexo masculino, de nove e 19 anos. Realizou-se a avaliação genética clínica e laboratorial (teste FISH, utilizando sonda para região 17p11.2). A avaliação psicológica constou da observação comportamental e aplicação da Escala Wechsler de Inteligência. A avaliação Fonoaudiológica foi realizada por meio de procedimentos formais e informais e avaliação auditiva periférica. RESULTADOS: a análise genética clínica evidenciou as características fenotípicas da síndrome Smith-Magenis, confirmada pela avaliação laboratorial. A avaliação psicológica evidenciou o fenótipo comportamental peculiar da síndrome Smith-Magenis e comprovou a deficiência intelectual de grau moderado nos dois indivíduos. A avaliação fonoaudiológica mostrou alterações no desempenho linguístico, com alterações nos níveis fonológico, semântico, sintático e pragmático e nas habilidades psicolinguísticas, interferindo nas habilidades comunicativas e de aprendizagem. A avaliação auditiva indicou audição periférica dentro de parâmetros de normalidade. CONCLUSÃO: a avaliação multidisciplinar favoreceu a descrição dos aspectos clínicos, comportamentais, cognitivos que pertencem ao fenótipo comportamental da síndrome Smith-Magenis e permitiu verificar que estes apresentam graves alterações da linguagem oral, das habilidades psicolinguísticas e do processamento das informações visuais e auditivas com reflexos marcantes no desenvolvimento das habilidades comunicativas e processos de aprendizagem.BACKGROUND: this study aimed to describe the clinical, behavioral, cognitive and communicative features of subjects with Smith-Magenis Syndrome genetic diagnosis. PROCEDURES: the subjects were two males, 09 and 19 year old. We performed a clinical and laboratory genetic evaluation (FISH assay using probes for the region 17p11.2). The psychological evaluation consisted of behavioral observation and application of the Wechsler Intelligence Scale. Speech evaluation was performed by means of formal and informal procedures and peripheral hearing evaluation. RESULTS: the clinical genetic analysis showed the phenotypic characteristics of Smith-Magenis syndrome, confirmed by laboratory evaluation. The psychological evaluation revealed the peculiar phenotype behavioral of Smith-Magenis syndrome and confirmed the moderate intellectual disabilities in two subjects. Speech evaluation showed changes in language performance, with changes in phonological, semantic, syntactic and pragmatic levels and psycholinguistic skills, interfering with communication and learning skills. The hearing test showed peripheral hearing within normal parameters. CONCLUSION: the multidisciplinary approach made easier the description of clinical, behavioral, cognitive aspects, belonging to the behavioral phenotype of Smith-Magenis syndrome and showed that these changes have severe oral language alterations in skills and psycholinguistic processing of visual and auditory information with remarkable consequences on the development of communicative skills and learning processes

Aspectos da fluência na narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal

OBJETIVO: Investigar aspectos da fluência na narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal (TEAF), e compará-los a indivíduos com desenvolvimento típico de linguagem quanto à frequência de disfluências e à velocidade de fala. MÉTODOS: Participaram deste estudo nove indivíduos com TEAF (dois com Síndrome Alcoólica Fetal e sete com Transtorno Neurodesenvolvimental Relacionado ao Álcool) com idades cronológicas entre 4 e 12 anos de idade, pareados a outros nove indivíduos com desenvolvimento típico de linguagem segundo gênero e idade cronológica. As narrativas orais foram produzidas utilizando o livro Frog, where are you? e analisadas quanto aos parâmetros da fluência de fala do Teste de Linguagem Infantil - ABFW (tipologia de disfluências, frequência de rupturas e velocidade de fala). RESULTADOS: Os grupos com TEAF e desenvolvimento típico de linguagem diferiram quanto à frequência total de disfluências, disfluências comuns e disfluências gagas, sendo as tipologias mais frequentes a hesitação e a pausa. CONCLUSÃO: Os resultados sugerem que a frequência aumentada de pausas e hesitações dos indivíduos com TEAF pode ser decorrente de dificuldades na elaboração da narrativa oral de histórias, justificando a menor taxa de velocidade de fala apresentada por esses indivíduos.PURPOSE: To investigate fluency aspects in the oral narrative of individuals with Fetal Alcohol Spectrum Disorder (FASD), and to compare them with individuals with typical language development regarding frequency of disfluencies and speech rate. METHODS: Participants were nine individuals with FASD (two with Fetal Alcohol Syndrome and seven with Alcohol-Related Neurodevelopmental Disorder) and chronological ages between 4 and 12 years. This group was matched to nine individuals with typical language development by gender and chronological age. Oral narratives were produced using the book Frog, where are you?, and analyzed according to the speech fluency parameters of the Teste de Linguagem Infantil - ABFW (type of disfluency, frequency of ruptures, and speech rate). RESULTS: The FASD and typical language development groups differed on overall frequency of disfluencies, typical disfluencies and stuttering disfluencies. For both groups, the most frequent types of disfluencies were hesitation and pause. CONCLUSION: The results suggest that the increased frequency of pauses and hesitations in individuals with FASD might be due to difficulties in the linguistic elaboration of oral narratives, justifying the lower speech rate showed by these individuals.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP