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. (C) 2011 Elsevier Ltd. All rights reserved.

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.

Effects of hearing protector devices on speech intelligibility

The purpose of this study was to determine the influence of hearing protection devices (HPDs) on the understanding of speech in young adults with normal hearing, both in a silent situation and in the presence of ambient noise. The experimental research was carried out with the following variables: five different conditions of HPD use (without protectors, with two earplugs and with two earmuffs); a type of noise (pink noise); 4 test levels (60, 70, 80 and 90 dB[A]); 6 signal/noise ratios (without noise, + 5, + 10, zero, - 5 and - 10 dB); 5 repetitions for each case, totalling 600 tests with 10 monosyllables in each one. The variable measure was the percentage of correctly heard words (monosyllabic) in the test. The results revealed that, at the lowest levels (60 and 70 dB), the protectors reduced the intelligibility of speech (compared to the tests without protectors) while, in the presence of ambient noise levels of 80 and 90 dB and unfavourable signal/noise ratios (0, -5 and -10 dB), the HPDs improved the intelligibility. A comparison of the effectiveness of earplugs versus earmuffs showed that the former offer greater efficiency in respect to the recognition of speech, providing a 30% improvement over situations in which no protection is used. As might be expected, this study confirmed that the protectors' influence on speech intelligibility is related directly to the spectral curve of the protector's attenuation. (C) 2003 Elsevier B.V. Ltd. All rights reserved.

Comparative Analysis of Objective Distortion Measures for Speech Signals Degraded by Noise

Speech signals degraded by additive noise can affects different applications in telecommunication. The noise may degrades the intelligibility of the speech signals and its waveforms as well. In some applications such as speech coding, both intelligibility and waveform quality are important but only intelligibility has been focused lastly. So, modern speech quality measurement techniques such as PESQ (Perceptual Evaluation of Speech Quality) have been used and classical distortion measurement techniques such as Cepstral Distance are becoming unused. In this paper it is shown that some classical distortion measures are still important in applications where speech corrupted by additive noise has to be evaluated.

Speech-language therapy for treatment of dysphagia and dysphonia in systemic granulomatous diseases: granulomatous diseases: dysphagia and dysphonia treatments

The granulomatous lesions are frequently founded in infectious diseases and can involve the larynx and pharynx and can cause varying degrees of dysphonia and dysphagia. There is still no systematic review that analyzes effectiveness of speech therapy in systemic granulomatous diseases. Research strategy: A systematic review was performed according to Cochrane guideline considering the inclusion of RCTs and quasi-RCTs about the effectiveness of speech-language therapy to treat dysphagia and dysphonia symptoms in systemic granulomatous diseases of the larynx and pharynx. Selection criteria: The outcome planned to be measured in this review were: swallowing impairment, frequency of chest infections and voice and swallowing symptoms. Data analysis: We identified 1,140 citations from all electronic databases. After an initial shift we only selected 9 titles to be retrieved in full-text. After full reading, there was no RCT found in this review and therefore, we only described the existing 2 case series studies. Results: There were no randomized controlled trials found in the literature. Therefore, two studies were selected to be included only for narratively analysis as they were case series. Conclusion: There is no evidence from high quality studies about the effectiveness of speech-language therapy in patients with granulomatous diseases of the larynx and pharynx. The investigators could rely in the outcomes suggested in this review to design their own clinical trials.

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 10Mb 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. (C) 2010 Wiley-Liss, Inc.

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.

Secretion of middle ear in infants - Occurrence, recurrence and related factors

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. Copyright © 2005 by Sociedade Brasileira de Pediatria.

Wavelets in a problem of signal processing

In this work a new method is proposed for noise reduction in speech signals in the wavelet domain. The method for signal processing makes use of a transfer function, obtained as a polynomial combination of three processings, denominated operators. The proposed method has the objective of overcoming the deficiencies of the thresholding methods and the effective processing of speech corrupted by real noises. Using the method, two speech signals are processed, contaminated by white noise and colored noises. To verify the quality of the processed signals, two evaluation measures are used: signal to noise ratio (SNR) and perceptual evaluation of speech quality (PESQ).

Cephalometric evaluation of hyoid bone position in a patient with Down syndrome: Case report

The hyoid bone contributes to the maintenance of the airway, chewing and swallowing, given to its anatomical and functional relations to the craniocervical complex. Cephalometric analysis has great importance for orthopedics, orthodontics and oral maxillary surgery. For the treatment of patients with special care needs, the cephalometric evaluation of the position of the hyoid bone should also contribute as a complementary element for dental diagnosis and the selection of the adequate treatment. The aim of this paper is to demonstrate the alteration of the hyoid position after carrying out the functional orthopedic maxillary treatment in a 9 year-old patient with Down Syndrome. Initial cephalometric analysis revealed inadequate position of hyoid bone. The association of speech therapy to dynamic functional rehabilitation of jaws showed a positive effect in occlusal relation and facial expression. After treatment, all dimensions obtained from the hyoid triangle were higher than initial ones, except the anterior-posterior value of C3-H, which suggested function improvement of stomatognathic system. Once considered its anatomical and physiological relationship with the others structures of the stomatognathic system, cephalometric analysis of hyoid bone position was helpful to the comprehension of the craniofacial abnormalities related to chromosomal anomaly, and thus is essential to the interdisciplinary dialogue.

Prevalence of risk factors for stuttering among boys: analytical cross-sectional study

CONTEXTO E OBJETIVO:Há poucos estudos sobre os fatores de risco para os subgrupos de gagueira. O objetivo deste estudo foi caracterizar os fatores de risco para a gagueira desenvolvimental familial em meninos que gaguejam e que não gaguejam como tipologia das disfluências, fatores qualitativos e comunicativos associados, estresse físico e emocional, atitude familiar e reação pessoal.TIPO DE ESTUDO E LOCAL:Estudo transversal analítico com um grupo controle, realizado no Laboratório de Estudo da Fluência, que faz parte do Departamento de Fonoaudiologia de uma universidade pública.MÉTODOS:Pais de 40 meninos com e sem gagueira pareados por idade fizeram parte do estudo. Os participantes foram divididos em dois grupos: crianças com gagueira e crianças sem gagueira, com idades entre 6 anos 0 meses e 11 anos 11 meses Inicialmente todos os participantes foram submetidos a uma avaliação de fluência e depois os dados foram coletados por meio do Protocolo de Risco para a Gagueira do Desenvolvimento.RESULTADOS:Não foi observada diferença nos fatores de estresse físicos e reações pessoais entre os grupos. As atitudes inadequadas familiares foram apresentadas por 95% das crianças com gagueira e 30% das crianças sem gagueira. Quatro fatores de risco analisados não ocorreram nas crianças sem gagueira, a saber, disfluências gagas, fatores qualitativos, estresse físico e emocional.CONCLUSÕES:Os achados sugerem que a presença de disfluências gagas, fatores qualitativos e comunicativos associados, estresse emocional e atitude familiar inadequada são fatores de risco importantes para a gagueira desenvolvimental familial em meninos.

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering

A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

Dysarthria and quality of life in neurologically healthy elderly and patients with Parkinson's disease

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Impact of inter-judge agreement on perceptual judgment of nasality

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Esquizofrenia: intervenção em Instituição Pública de Saúde

Les premiers concepts de schizophrénie comprenaient des définitions non-spécifiques sur le trouble schizophrénique. Ce n est qu en 1980 que Crow a proposé la classification la plus connue pour ce trouble: la distinction en soustypes I et II, de symptomatologie positive ou négative, les symptômes du syndrome positif correspondant aux hallucinations et aux délires et ceux du syndrome négatif au repli affectif et à la pauvreté du discours. Bien que la thérapie médicamenteuse présente des avancées dans le traitement de la maladie, la psychothérapie est la plus indiquée pour remédier aux préjudices sociaux et interpersonnels que celle-ci provoque. L objectif de cette étude est de relater une intervention comportementale, dans un Centre de Soins Psychosocial, auprès d une patiente de 19 ans, en utilisant des Exercices de Réadaptation Psychosociale (SAT) en tant que la possibilité de traitement de la schizophrénie. Ce processus a contribué à une réduction du stéréotype de la maladie chez la jeune patiente, considérant qu elle a élargi son répertoire social et a rendu possible des avancées dans les sphères psychologique, sociale et professionnelle.