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1.
Rev. chil. fonoaudiol. (En línea) ; 19: 1-11, nov. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1148434

RESUMO

El estudio de la fluidez del habla, en distintas etapas del ciclo vital, es relevante porque contribuye tanto a la comprensión del desarrollo típico del habla como a la comprensión del habla patológica, lo que aporta al diagnóstico y al tratamiento. Los objetivos del trabajo son: a) determinar la presencia y distribución de las disfluencias en distintos grupos etarios y b) determinar si existe variación en la distribución de las disfluencias en relación con el género de los informantes. La muestra estuvo compuesta por 60 niños y adolescentes entre los 4.01 años y 15.0 años distribuidos en tres grupos. Los resultados indican que la prolongación de vocal fue la disfluencia más frecuente, mientras que la repetición de sílaba fue la menos presente en los grupos analizados. En el grupo de mujeres de menor edad hubo una cantidad significativamente alta de repetición de palabras. No se encontraron otras diferencias en relación con el género de los informantes. Finalmente, se discuten los resultados y algunas consideraciones relacionadas con la metodología en este tipo de investigaciones.


The study of fluency of speech, at different stages of the life cycle, is relevant in that it contributes both to the understanding of typical speech development and to the understanding of pathological speech, which is useful for diagnosis and treatment. The objectives of this work are a) to determine the presence and distribution of the disfluencies present in different age groups and b) to determine if there is variation in the distribution of disfluencies in relation to the gender of the informants. Thesample consisted of 60 children and adolescents between 4.01 years old and 15.0 years old distributed in three groups. The results indicate that vowel prolongation was the most frequent disfluency, while syllable repetition was the least present inthe groups analyzed. In the group of younger women, there was a significantly high amount of word repetition when comparing the presence of this disfluency in the other two groups. There were no more differences reported in relation to the gender ofthe informants. Finally, the results and some considerations related to the methodology in this type of research are discussed


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Fala/fisiologia , Distúrbios da Fala/fisiopatologia , Distúrbios da Fala/epidemiologia , Medida da Produção da Fala , Chile , Fatores Sexuais , Fatores Etários , Compreensão
2.
Am J Hum Genet ; 107(4): 683-697, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32853554

RESUMO

More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a lack of frameworks for analyzing heterogenous clinical data. Here, we analyzed 31,742 Human Phenotype Ontology (HPO) terms in 846 individuals with existing whole-exome trio data and assessed associated clinical features and phenotypic relatedness by using HPO-based semantic similarity analysis for individuals with de novo variants in the same gene. Gene-specific phenotypic signatures included associations of SCN1A with "complex febrile seizures" (HP: 0011172; p = 2.1 × 10-5) and "focal clonic seizures" (HP: 0002266; p = 8.9 × 10-6), STXBP1 with "absent speech" (HP: 0001344; p = 1.3 × 10-11), and SLC6A1 with "EEG with generalized slow activity" (HP: 0010845; p = 0.018). Of 41 genes with de novo variants in two or more individuals, 11 genes showed significant phenotypic similarity, including SCN1A (n = 16, p < 0.0001), STXBP1 (n = 14, p = 0.0021), and KCNB1 (n = 6, p = 0.011). Including genetic and phenotypic data of control subjects increased phenotypic similarity for all genetic etiologies, whereas the probability of observing de novo variants decreased, emphasizing the conceptual differences between semantic similarity analysis and approaches based on the expected number of de novo events. We demonstrate that HPO-based phenotype analysis captures unique profiles for distinct genetic etiologies, reflecting the breadth of the phenotypic spectrum in genetic epilepsies. Semantic similarity can be used to generate statistical evidence for disease causation analogous to the traditional approach of primarily defining disease entities through similar clinical features.


Assuntos
Proteínas da Membrana Plasmática de Transporte de GABA/genética , Proteínas Munc18/genética , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Convulsões/genética , Espasmos Infantis/genética , Distúrbios da Fala/genética , Pré-Escolar , Estudos de Coortes , Feminino , Expressão Gênica , Ontologia Genética , Humanos , Masculino , Mutação , Fenótipo , Convulsões/classificação , Convulsões/diagnóstico , Convulsões/fisiopatologia , Semântica , Canais de Potássio Shab/genética , Espasmos Infantis/classificação , Espasmos Infantis/diagnóstico , Espasmos Infantis/fisiopatologia , Distúrbios da Fala/classificação , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/fisiopatologia , Terminologia como Assunto , Sequenciamento Completo do Exoma
3.
Codas ; 32(3): e20180320, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32638827

RESUMO

PURPOSE: To investigate participation, and functionality of children and adolescents with speech disorders using the International Classification of Functioning, Disability and Health (ICF). METHOD: Descriptive and analytical research of qualitative and quantitative approach. The sample was composed of 30 participants with speech disorders and 30 with typical speech development. For data collection, it was conducted semi-structured interviews with the participants, medical record review, observation of speech aspects' participants, and analyzed study of medical records. The collected data were used to qualify the framework codes. The Mann-Whitney Test was used for comparison between groups, and thematic content analysis for the interviews. RESULTS: Participants with speech disorders reported more difficulties than the participants with typical speech development. Speech disorders significantly impacted on the Body Functions (articulation and fluency), Activities and Participation (conversation, relationships, carrying out the routine and handling of stress) and Environmental Factors (attitudes of family, friends and acquaintances). CONCLUSION: The results show the impact of speech disorders and their social consequences for these children and adolescents. The ICF allowed us to comprehend health in all its complexity and integrality, making possible to plan strategies to soften the disorders impact in an individual and collective perspective. Then, ICF can be used, in the future, for elaboration of public policies and actions that will improve the quality of life and promote the health of this population.


Assuntos
Atividades Cotidianas , Pessoas com Deficiência , Qualidade de Vida , Distúrbios da Fala , Adolescente , Criança , Comunicação , Avaliação da Deficiência , Humanos , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Registros Médicos , Distúrbios da Fala/fisiopatologia , Distúrbios da Fala/reabilitação
4.
Neurology ; 95(2): e194-e205, 2020 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-32527970

RESUMO

OBJECTIVE: To determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers. METHODS: Forty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, and 16 healthy controls) were recruited in Holguin, Cuba. All participants underwent a comprehensive battery of assessments including objective acoustic analysis, clinician-derived ratings of speech function and swallowing, and quality of life assessments of swallowing. RESULTS: Reduced speech agility manifest at the pre-ataxic stage was observed during diadochokinetic tasks, with the magnitude of speech deficit augmented in the early ataxic stage. Speech rate was slower in early-stage ataxic SCA2 compared with pre-ataxic SCA2 and healthy controls. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset, verifying that speech deficits occur prior to ataxia onset and increase in severity as the disease progresses. Whereas dysphagia was observed in both pre-ataxic and ataxic SCA2, it was not associated with swallowing-related quality of life, disease severity, or time to ataxia onset. CONCLUSIONS: Speech and swallowing deficits appear sensitive to disease progression in early-stage SCA2, with syllabic rate a viable marker. Findings provide insight into mechanisms of disease progression in early-stage SCA2, signaling an opportunity for stratifying early-stage SCA2 and identifying salient markers of disease onset as well as outcome measures in future early-stage therapeutic studies.


Assuntos
Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Distúrbios da Fala/etiologia , Distúrbios da Fala/fisiopatologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Biomarcadores , Transtornos de Deglutição/psicologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Testes de Articulação da Fala , Distúrbios da Fala/psicologia , Ataxias Espinocerebelares/psicologia , Adulto Jovem
5.
Rev. neurol. (Ed. impr.) ; 70(11): 393-405, 1 jun., 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-191899

RESUMO

OBJETIVO: Revisar de manera exhaustiva la bibliografía referente a la evaluación instrumental cuantitativa de la voz en pacientes con enfermedad de Parkinson (EP) y realizar un metaanálisis para definir las principales características de los trastornos de la voz en la EP. Pacientes y métodos. Búsquedas bibliográficas con las palabras clave «Parkinson» y «voice» en PubMed, EMBASE, Cochrane Library y Web of Science. Los principales criterios de aceptación fueron: EP con confirmación clínica y medición instrumentada de los parámetros de la voz mediante análisis acústico. RESULTADOS: Catorce publicaciones cumplieron los criterios de aceptación y se incluyeron en el metaanálisis. De los datos incorporados al metaanálisis, se dedujo que varios parámetros vocales, como el jitter, el shimmer y la variación de la frecuencia fundamental, presentan variaciones significativas en los pacientes con EP frente a los controles sanos. Se hallaron variaciones significativas de la frecuencia fundamental y de su desviación estándar, del tiempo máximo de fonación y de la razón armónicos-ruido, si bien con una alta heterogeneidad entre los estudios. En cambio, no se observaron variaciones sustanciales de la razón ruido-armónicos, en el índice s/z ni en la variación de la amplitud. CONCLUSIÓN: El análisis acústico de la voz por medio de un sistema electrónico permite detectar los cambios de los parámetros vocales de cara a predecir el empeoramiento de la enfermedad y elegir una intervención específica. Entre dichos parámetros, el jitter y el shimmer aumentaron significativamente en los pacientes con EP


AIM: To systematically review all the literature, focusing on instrumental quantitative assessment of voice in patients with Parkinson’s disease (PD). Furthermore, a meta-analysis was performed to identify the main characteristics of voice disturbances in PD. PATIENTS AND METHODS: Literature searches with the keywords «Parkinson» and «voice» were conducted in PubMed, EMBASE, Cochrane Library and Web of Science. Main inclusion criteria were: clinically confirmed PD and instrumented measurement of voice parameters with acoustic analysis of voice. RESULTS: Fourteen publications met the inclusion criteria and were included in the meta-analysis. The data within the meta-analysis revealed that several voice parameters including jitter, shimmer and fundamental frequency variation presented significant variations between patients with EP and healthy controls. Significant variations of fundamental frequency, maximum phonation time, harmonic to noise ratio, standard deviation of fundamental frequency were observed, but with a high heterogeneity between the studies. On the other hand, significant variations of noise to harmonic ratio, s/z ratio, variation of amplitude were not observed. CONCLUSION: Acoustic analysis of voice, using an electronic system, allows the identification of changes in voice parameters for predicting the worsening of disease and for targeting specific intervention. Among the voice parameters, jitter and shimmer significantly increased in patients with PD


Assuntos
Humanos , Doença de Parkinson/fisiopatologia , Doença de Parkinson/complicações , Distúrbios da Fala/etiologia , Distúrbios da Fala/fisiopatologia , Acústica da Fala
6.
Codas ; 32(4): e20190152, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32401996

RESUMO

Purpose This study investigated the influence of the cleft type on the appearance of hypernasality after surgical maxillary advancement (MA). Methods Nasality was determined by measurement of nasalance (acoustic correlate of nasality) by nasometry. The study involved analysis of the nasalance scores of 17 individuals with isolated cleft palate (CP), 118 with unilateral cleft lip and palate (UCLP) and 69 with bilateral cleft lip and palate (BCLP), of both sexes, aged 18 to 28 years, after MA. Only individuals with normal nasalance scores indicating balanced resonance before MA were included in this study. Nasometry was performed 3 days before and 15 months after MA, on average. The proportion of patients who presented nasalance scores indicating hypernasality after surgery was calculated by the ANOVA test, and comparison among the different cleft types was evaluated by the chi-square test (p < 0.05). Results No significant difference was found in the proportions of individuals with hypernasality among the cleft types. Conclusion Nasometry showed that the appearance of hypernasality after MA in individuals with cleft palate with or without cleft lip occurred in similar proportions, regardless of the cleft type.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Procedimentos Cirúrgicos Ortognáticos/efeitos adversos , Distúrbios da Fala/etiologia , Fala/fisiologia , Insuficiência Velofaríngea/etiologia , Adolescente , Adulto , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Feminino , Humanos , Masculino , Maxila/cirurgia , Osteotomia de Le Fort/efeitos adversos , Estudos Retrospectivos , Distúrbios da Fala/fisiopatologia , Medida da Produção da Fala , Insuficiência Velofaríngea/fisiopatologia , Adulto Jovem
7.
Neurology ; 94(20): e2148-e2167, 2020 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-32345733

RESUMO

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS). METHODS: Precise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates. RESULTS: Thirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1, DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus) variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated genes were highly coexpressed in the developing human brain. CONCLUSION: We identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous. Highly penetrant variants implicate shared pathways in broad transcriptional regulation, highlighting the key role of transcriptional regulation in normal speech development. CAS is a distinctive, socially debilitating clinical disorder, and understanding its molecular basis is the first step towards identifying precision medicine approaches.


Assuntos
Apraxias/genética , Distúrbios da Fala/genética , Fala/fisiologia , Fatores de Transcrição/genética , Adolescente , Apraxias/diagnóstico , Apraxias/fisiopatologia , Criança , Pré-Escolar , Feminino , Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética , Estudos de Associação Genética , Humanos , Masculino , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/fisiopatologia
8.
J Appl Oral Sci ; 28: e20190399, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32348443

RESUMO

Objectives To evaluate the acoustic properties of the /s/ sound in individuals with different occlusion types and to investigate relationships between these properties and cephalometric measurements. Methodology Sixty patients were divided into three groups based on malocclusion. Group 1 included 20 patients (mean age: 14.85±2.01 years) with Class I skeletal and dental relationships. Group 2 included 20 patients (mean age: 13.49±1.78 years) with Class II skeletal and dental relationships. Group 3 included 20 patients (mean age: 12.46±2.62 years) with Class III skeletal and dental relationships. Cephalometric tracings were obtained from cephalometric radiographs. All included patients were native speakers of Turkish. The /s/ sound was selected for center of gravity analysis. Correlations between cephalometric values and acoustic parameters were also investigated. Results The center of gravity of the /s/ sound had the lowest value in Group 2 (p<0.05). For the /s/ sound in Group 3, moderate positive correlations were found between center of gravity and Sella-Nasion to Gonion-Gnathion angle (p<0.05, r=0.444) Lower incisor to Nasion-B point (p<0.023, r=0.505), and Lower incisor to Nasion-B point angle (p<0.034; r=0.476). No correlation was found in other cephalometric measurements. Conclusions The /s/ sound was affected by malocclusion due to the changing place of articulation. Therefore, referral to an orthodontist for malocclusion treatment especially patients with class III in the early period is suggested for producing acoustically ideal sound.


Assuntos
Cefalometria , Má Oclusão/fisiopatologia , Acústica da Fala , Distúrbios da Fala/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Masculino , Má Oclusão/complicações , Má Oclusão/diagnóstico por imagem , Mandíbula/anatomia & histologia , Mandíbula/fisiopatologia , Maxila/anatomia & histologia , Maxila/fisiopatologia , Estudos Prospectivos , Radiografia , Valores de Referência , Distúrbios da Fala/diagnóstico por imagem , Distúrbios da Fala/etiologia , Estatísticas não Paramétricas , Língua/anatomia & histologia , Língua/fisiopatologia , Turquia
9.
Codas ; 32(4): e20190072, 2020.
Artigo em Português, Inglês | MEDLINE | ID: mdl-32049105

RESUMO

PURPOSE: To describe and characterize a finding, i.e., delayed posterior leakage of food residue during swallowing, according to age, gender and food consistency, which occurred in the event. METHODS: Data were collected through the analysis of each functional videonasoendoscopy test of swallowing previously recorded in a specialist outpatient clinic. The study population included 200 patients, both males and females, aged between 46 and 87 years, with and without an underlying pathology for dysphagia. The images were studied individually by the researcher and analyzed by judges in order to identify and select images that would confirm the presence or absence of the study event. RESULTS: Delayed escape was found in 45 out of the 200 analyzed tests. The tests selected for the study showed delayed posterior bolus leakage in at least one consistency. The highest frequency of delayed posterior leakage occurred with fluids. The analysis showed the significance of the study event with the population related to older ages in the sample analyzed. CONCLUSION: Delayed posterior leakage occurs predominantly in the liquid consistency in older populations with no gender predominance.


Assuntos
Deglutição/fisiologia , Endoscopia/métodos , Distúrbios da Voz/fisiopatologia , Distribuição por Idade , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Transtornos de Deglutição , Feminino , Alimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Distribuição por Sexo , Fatores Sexuais , Distúrbios da Fala/fisiopatologia , Gravação em Vídeo , Distúrbios da Voz/diagnóstico
10.
Ann Biomed Eng ; 48(4): 1322-1336, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31965359

RESUMO

The clinical assessment of speech abnormalities in Cerebellar Ataxia (CA) is time-consuming and inconsistent. We have developed an automated objective system to quantify CA severity and thereby facilitate remote monitoring and optimisation of therapeutic interventions. A quantitative acoustic assessment could prove to be a viable biomarker for this purpose. Our study explores the use of phase-based cepstral features extracted from the modified group delay function as a complement to the features obtained from the magnitude cepstrum. We selected a combination of 15 acoustic measurements using RELIEF feature selection algorithm during the feature optimisation process. These features were used to segregate ataxic speakers from normal speakers (controls) and objectively assess them based on their severity. The effectiveness of our study has been experimentally evaluated through a clinical study involving 42 patients diagnosed with CA and 23 age-matched controls. A radial basis function kernel based support vector machine (SVM) classifier achieved a classification accuracy of 84.6% in CA-Control discrimination [area under the ROC curve (AUC) of 0.97] and 74% in the modified 3-level CA severity estimation (AUC of 0.90) deduced from the clinical ratings. The strong classification ability of selected features and the SVM model supports this scheme's suitability for monitoring CA related speech motor abnormalities.


Assuntos
Ataxia Cerebelar/fisiopatologia , Distúrbios da Fala/classificação , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fala , Distúrbios da Fala/fisiopatologia , Máquina de Vetores de Suporte
11.
Neuropsychologia ; 138: 107312, 2020 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-31917203

RESUMO

Developmental language disorder (DLD) and developmental speech disorder (DSD) are highly prevalent childhood conditions. An impaired ability to repeat nonsense words ("nonword repetition"), is claimed to be a robust behavioural marker for these conditions. Yet how brain function is altered during this task remains poorly understood. Previous research suggests that DLD or DSD may be associated with reduced brain activation in the inferior frontal and posterior temporal regions when compared to controls. However, this research is limited by within and between group variability in age, speech/language phenotype, and comorbidities. Here, we used functional MRI to examine brain activation during nonword repetition. As anticipated, behavioural findings confirmed that the DLD and DSD groups had poorer nonword repetition performance compared to typical controls. In contrast, fMRI revealed no statistically significant differences in brain activation, despite the groups appearing to engage slightly different regions when compared at identical thresholds. Therefore, whilst nonword repetition is a sensitive clinical marker for DLD and DSD, the findings from this study suggest that this task is not a sensitive brain MRI marker for children with these disorders, unlike for individuals with single gene mutations like FOXP2 mutations.


Assuntos
Percepção Auditiva/fisiologia , Mapeamento Encefálico , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Distúrbios da Fala/fisiopatologia , Fala/fisiologia , Criança , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico por imagem , Estudos Longitudinais , Imagem por Ressonância Magnética , Masculino , Distúrbios da Fala/diagnóstico por imagem , Percepção da Fala/fisiologia
12.
Neural Netw ; 121: 186-207, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31568896

RESUMO

There is an essential requirement to support people with speech and communication disabilities. A brain-computer interface using electroencephalography (EEG) is applied to satisfy this requirement. A number of research studies to recognize brain signals using machine learning and deep neural networks (DNNs) have been performed to increase the brain signal detection rate, yet there are several defects and limitations in the techniques. Among them is the use in specific circumstances of machine learning. On the one hand, DNNs extract the features well and automatically. On the other hand, their use results in overfitting and vanishing problems. Consequently, in this research, a deep network is designed on the basis of an autoencoder neural Turing machine (DN-AE-NTM) to resolve the problems by the use of NTM external memory. In addition, the DN-AE-NTM copes with all kinds of signals with high detection rates. The data were collected by P300 EEG devices from several individuals under the same conditions. During the test, each individual was requested to skim images with one to six labels and focus on only one of the images. Not to focus on some images is analogous to producing unimportant information in the individual's brain, which provides unfamiliar signals. Besides the main P300 EEG dataset, EEG recordings of individuals with alcoholism and control individuals and the EEGMMIDB, MNIST, and ORL datasets were implemented and tested. The proposed DN-AE-NTM method classifies data with an average detection rate of 97.5%, 95%, 98%, 99.4%, and 99.1%, respectively, in situations where the signals are noisy so that only 20% of the data are reliable and include useful information.


Assuntos
Interfaces Cérebro-Computador , Encéfalo/fisiologia , Aprendizado Profundo , Redes Neurais de Computação , Distúrbios da Fala/fisiopatologia , Interface para o Reconhecimento da Fala , Eletroencefalografia/métodos , Humanos
13.
J. appl. oral sci ; 28: e20190399, 2020. tab, graf
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1101253

RESUMO

Abstract Objectives To evaluate the acoustic properties of the /s/ sound in individuals with different occlusion types and to investigate relationships between these properties and cephalometric measurements. Methodology Sixty patients were divided into three groups based on malocclusion. Group 1 included 20 patients (mean age: 14.85±2.01 years) with Class I skeletal and dental relationships. Group 2 included 20 patients (mean age: 13.49±1.78 years) with Class II skeletal and dental relationships. Group 3 included 20 patients (mean age: 12.46±2.62 years) with Class III skeletal and dental relationships. Cephalometric tracings were obtained from cephalometric radiographs. All included patients were native speakers of Turkish. The /s/ sound was selected for center of gravity analysis. Correlations between cephalometric values and acoustic parameters were also investigated. Results The center of gravity of the /s/ sound had the lowest value in Group 2 (p<0.05). For the /s/ sound in Group 3, moderate positive correlations were found between center of gravity and Sella-Nasion to Gonion-Gnathion angle (p<0.05, r=0.444) Lower incisor to Nasion-B point (p<0.023, r=0.505), and Lower incisor to Nasion-B point angle (p<0.034; r=0.476). No correlation was found in other cephalometric measurements. Conclusions The /s/ sound was affected by malocclusion due to the changing place of articulation. Therefore, referral to an orthodontist for malocclusion treatment especially patients with class III in the early period is suggested for producing acoustically ideal sound.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Acústica da Fala , Distúrbios da Fala/fisiopatologia , Cefalometria , Má Oclusão/fisiopatologia , Valores de Referência , Distúrbios da Fala/etiologia , Distúrbios da Fala/diagnóstico por imagem , Língua/anatomia & histologia , Língua/fisiopatologia , Turquia , Radiografia , Estudos Prospectivos , Estatísticas não Paramétricas , Má Oclusão/complicações , Má Oclusão/diagnóstico por imagem , Mandíbula/anatomia & histologia , Mandíbula/fisiopatologia , Maxila/anatomia & histologia , Maxila/fisiopatologia
14.
J Craniomaxillofac Surg ; 47(12): 1868-1874, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31812310

RESUMO

BACKGROUND: Maxillary advancement may affect speech in cleft patients. AIMS: To evaluate whether the amount of maxillary advancement in Le Fort I osteotomy affects velopharyngeal function (VPF) in cleft patients. METHODS: Ninety-three non-syndromic cleft patients (51 females, 42 males) were evaluated retrospectively. All patients had undergone a Le Fort I or bimaxillary (n = 24) osteotomy at Helsinki Cleft Palate and Craniofacial Center. Preoperative and postoperative lateral cephalometric radiographs were digitized to measure the amount of maxillary advancement. Pre- and postoperative speech was assessed perceptually and instrumentally by experienced speech therapists. Student's t-test and Mann-Whitney's U-test were used in the statistical analyses. Kappa statistics were calculated to assess reliability. RESULTS: The mean advancement of A point was 4.0 mm horizontally (range: -2.8-11.3) and 3.9 mm vertically (range -14.2-3.9). Although there was a negative change in VPF, the amount of maxillary horizontal or vertical movement did not significantly influence the VPF. There was no difference between the patients with maxillary and bimaxillary osteotomy. CONCLUSIONS: The amount of maxillary advancement does not affect the velopharyngeal function in cleft patients.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Osteotomia Maxilar/métodos , Procedimentos Cirúrgicos Ortognáticos/métodos , Osteotomia de Le Fort/métodos , Fala/fisiologia , Insuficiência Velofaríngea/fisiopatologia , Adolescente , Adulto , Cefalometria/métodos , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Feminino , Finlândia , Humanos , Masculino , Avanço Mandibular/métodos , Maxila/anormalidades , Maxila/cirurgia , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Distúrbios da Fala/fisiopatologia , Distúrbios da Fala/cirurgia , Resultado do Tratamento , Insuficiência Velofaríngea/cirurgia , Adulto Jovem
15.
Sci Rep ; 9(1): 14282, 2019 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-31582814

RESUMO

Bipolar disorder (BD) is characterized by speech abnormalities, reflected by symptoms such as pressure of speech in mania and poverty of speech in depression. Here we aimed at investigating speech abnormalities in different episodes of BD, including mixed episodes, via process-oriented measures of verbal fluency performance - i.e., word and error count, semantic and phonological clustering measures, and number of switches-, and their relation to neurocognitive mechanisms and clinical symptoms. 93 patients with BD - i.e., 25 manic, 12 mixed manic, 19 mixed depression, 17 depressed, and 20 euthymic-and 31 healthy controls were administered three verbal fluency tasks - free, letter, semantic-and a clinical and neuropsychological assessment. Compared to depression and euthymia, switching and clustering abnormalities were found in manic and mixed states, mimicking symptoms like flight of ideas. Moreover, the neuropsychological results, as well as the fact that error count did not increase whereas phonological associations did, showed that impaired inhibition abilities and distractibility could not account for the results in patients with manic symptoms. Rather, semantic overactivation in patients with manic symptoms, including mixed depression, may compensate for trait-like deficient semantic retrieval/access found in euthymia. "For those who are manic, or those who have a history of mania, words move about in all directions possible, in a three-dimensional 'soup', making retrieval more fluid, less predictable." Kay Redfield Jamison (2017, p. 279).


Assuntos
Transtorno Bipolar/complicações , Distúrbios da Fala/etiologia , Adolescente , Adulto , Transtorno Bipolar/fisiopatologia , Feminino , Humanos , Idioma , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Semântica , Distúrbios da Fala/fisiopatologia , Pensamento , Comportamento Verbal , Adulto Jovem
16.
Mov Disord ; 34(12): 1774-1791, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31651053

RESUMO

In clinical practice, involuntary vocalizing behaviors are typically associated with Tourette syndrome and other tic disorders. However, they may also be encountered throughout the entire tenor of neuropsychiatry, movement disorders, and neurodevelopmental syndromes. Importantly, involuntary vocalizing behaviors may often constitute a predominant clinical sign, and, therefore, their early recognition and appropriate classification are necessary to guide diagnosis and treatment. Clinical literature and video-documented cases on the topic are surprisingly scarce. Here, we pooled data from 5 expert centers of movement disorders, with instructive video material to cover the entire range of involuntary vocalizations in humans. Medical literature was also reviewed to document the range of possible etiologies associated with the different types of vocalizing behaviors and to explore treatment options. We propose a phenomenological classification of involuntary vocalizations within different categorical domains, including (1) tics and tic-like vocalizations, (2) vocalizations as part of stereotypies, (3) vocalizations as part of dystonia or chorea, (4) continuous vocalizing behaviors such as groaning or grunting, (5) pathological laughter and crying, (6) vocalizations resembling physiological reflexes, and (7) other vocalizations, for example, those associated with exaggerated startle responses, as part of epilepsy and sleep-related phenomena. We provide comprehensive lists of their associated etiologies, including neurodevelopmental, neurodegenerative, neuroimmunological, and structural causes and clinical clues. We then expand on the pathophysiology of the different vocalizing behaviors and comment on available treatment options. Finally, we present an algorithmic approach that covers the wide range of involuntary vocalizations in humans, with the ultimate goal of improving diagnostic accuracy and guiding appropriate treatment. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Distúrbios da Fala/psicologia , Transtornos de Tique/psicologia , Síndrome de Tourette/psicologia , Gravação em Vídeo , Humanos , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/psicologia , Distúrbios da Fala/fisiopatologia , Transtornos de Tique/fisiopatologia , Síndrome de Tourette/fisiopatologia
17.
J Speech Lang Hear Res ; 62(9): 3220-3233, 2019 09 20.
Artigo em Inglês | MEDLINE | ID: mdl-31479382

RESUMO

Purpose This study sought to determine if (a) children with childhood apraxia of speech (CAS), other speech sound disorders (SSDs), and typical development (TD) would perform differently on a standardized motor assessment and (b) whether comorbid language impairment would impact group differences. Method Speech, language, and motor abilities were assessed in children with CAS (n = 10), SSD (n = 16), and TD (n = 14) between the ages of 43 and 105 months. Motor skills were evaluated using the Movement Assessment Battery for Children-Second Edition (Henderson, Sugden, & Barnett, 2007), a behavioral assessment that is sensitive in identifying fine/gross motor impairments in children with a range of motor and learning abilities. Data were reanalyzed after reclassifying children by language ability. Results The CAS group performed below the normal limit on all components of the motor assessment and more poorly than the TD and SSD groups on Aiming and Catching and Balance. When children were reclassified by language ability, the comorbid CAS + language impairment group performed worse than the SSD-only and TD groups on Manual Dexterity and Balance and worse than the TD group on Aiming and Catching; all 7 children with CAS + language impairment evidenced performance in the disordered range compared to 1 of 3 children in the CAS-only group and 2 of 6 children in the SSD + language impairment group. Conclusions Children with CAS + language impairment appear to be at an increased risk for motor impairments, which may negatively impact social, academic, and vocational outcomes; referrals for motor screenings/assessments should be considered. Findings may suggest a higher order deficit that mediates cognitive-linguistic and motor impairments in this population.


Assuntos
Apraxias/fisiopatologia , Destreza Motora , Distúrbios da Fala/fisiopatologia , Transtorno Fonológico/fisiopatologia , Apraxias/complicações , Criança , Pré-Escolar , Feminino , Humanos , Idioma , Masculino , Distúrbios da Fala/complicações , Transtorno Fonológico/complicações
18.
BMJ Open ; 9(7): e029780, 2019 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-31300507

RESUMO

INTRODUCTION: Cleft palate is among the most common birth abnormalities. The success of primary surgery in the early months of life is crucial for successful feeding, speech, hearing, dental development and facial growth. Over recent decades, age at palatal surgery in infancy has reduced. This has led to palatal closure in one-stage procedures being carried out around the age of 12 months, but in some cases as early as 6 months. The primary objective of the Timing Of Primary Surgery for Cleft Palate (TOPS)trial is to determine whether surgery for cleft palate performed at 6 or 12 months of age is most beneficial for speech outcomes. METHODS AND ANALYSIS: Infants with a diagnosis of non-syndromic isolated cleft palate will be randomised to receive standardised primary surgery (Sommerlad technique) for closure of the cleft at either 6 months or 12 months, corrected for gestational age. The primary outcome will be perceived insufficient velopharyngeal function at 5 years of age. Secondary outcomes measured across 12 months, 3 years and 5 years will include growth, safety of the procedure, dentofacial development, speech, hearing level and middle ear function. Video and audio recordings of speech will be collected in a standardised age-appropriate manner and analysed independently by multiple speech and language therapists. The trial aims to recruit and follow-up 300 participants per arm. Data will be analysed according to the intention-to-treat principle using a 5% significance level. All analyses will be prespecified within a full and detailed statistical analysis plan. ETHICS AND DISSEMINATION: Ethical approval has been sought in each participating country according to country-specific procedures. Trial results will be presented at conferences, published in peer-reviewed journals and disseminated through relevant patient support groups. TRIAL REGISTRATION NUMBER: NCT00993551; Pre-results.


Assuntos
Fissura Palatina/cirurgia , Palato Mole/cirurgia , Tempo para o Tratamento , Desenvolvimento Infantil , Pré-Escolar , Humanos , Lactente , Internacionalidade , Desenvolvimento da Linguagem , Estudos Multicêntricos como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Procedimentos Cirúrgicos Reconstrutivos , Fala , Distúrbios da Fala/fisiopatologia , Resultado do Tratamento , Insuficiência Velofaríngea/fisiopatologia , Qualidade da Voz
19.
Int J Lang Commun Disord ; 54(6): 902-913, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31338954

RESUMO

BACKGROUND: Acquired apraxia of speech (AOS) involves speech-production deficits on both the segmental and suprasegmental levels. Recent research has identified a non-linear interaction between the metrical structure of bisyllabic words and word-production accuracy in German speakers with AOS, with trochaic words (strong-weak stress) being resistant to errors compared with iambic words (weak-strong). AIMS: To replicate previous findings in English speakers with AOS, to measure the test-retest reliability of the effect, and to examine the potential impact of different methods of word scoring. METHODS & PROCEDURES: Speech samples were collected from 27 speakers with AOS and aphasia. Participants were at least 12 months post-stroke or penetrating brain injury, and represented a large range of AOS and aphasia severities. Productions were elicited via verbal model. Sampling was conducted on three separate occasions: the initial data-collection session and then repeated samplings at 1- and 4-week intervals. Bisyllabic words with a CVCVC segmental structure were selected. The list was divided into sublists representing differing lexical stress patterns: A list of 42 trochees, and one of 37 iambs. All speech samples were phonetically transcribed and then aligned with canonical transcriptions via an edit distance algorithm that followed transcription alignment principles. Phonetic-level errors (distortions) were penalized less severely than phonemic-level errors. Per cent consonants correct and whole-word accuracy were also examined. Trochee and iamb lists were analysed separately. OUTCOMES & RESULTS: Paired samples t-tests indicated that the modified edit distance was significantly lower for the trochee lists than for the iamb lists. There was a lack of a significant effect of time on the absolute difference between modified edit distance for both lists. Intraclass coefficients suggested the list and procedures used are appropriate as an outcome measure for group research. CONCLUSIONS & IMPLICATIONS: The results suggest that in English, as in German, the trochaic structure is more resistant to segmental errors in persons with AOS and aphasia, providing replication of the findings of Aichert et al. in 2016. Further, this effect is stable over repeated sampling occasions. Implications for clinical management of AOS include possible ways to scaffold item difficulty and potentially improve stimulus generalization.


Assuntos
Apraxias/psicologia , Distúrbios da Fala/psicologia , Fala/fisiologia , Adulto , Apraxias/etiologia , Apraxias/fisiopatologia , Feminino , Traumatismos Cranianos Penetrantes/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Variações Dependentes do Observador , Fonética , Reprodutibilidade dos Testes , Acústica da Fala , Distúrbios da Fala/etiologia , Distúrbios da Fala/fisiopatologia , Medida da Produção da Fala/métodos , Acidente Vascular Cerebral/complicações
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