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1.
Int J Pediatr Otorhinolaryngol ; 145: 110742, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33933988

RESUMO

OBJECTIVE: to compare the Frequency Following Responses of children with childhood apraxia of speech with typical development children. METHOD: this is an observational cross-sectional analytical study approved by Human Research Ethics Committee. Thirty normal hearing children have participated in the study. THEY WERE DIVIDED INTO TWO GROUPS: 1) study group - composed by 15 children diagnosed with childhood apraxia of speech (between the chronological ages of 3 and 11 years, mean age of 5,7 years); and 2) control group: composed by 15 children with typical development, paired by age and gender with study group. Frequency Following Response were recorded using the/da/syllable presentation rate at 10.9 ms. RESULTS: there was a significant delay in latencies of waves V, A and C of children with apraxia of speech, suggesting difficulties in the ability to process sounds. CONCLUSION: The delay on Frequency Following Response's latencies (waves V, A and C) in children with apraxia of speech maybe related to atypical neural coding of speech sounds, suggesting that apraxia of speech must not be purely considered as a motor speech disorder.


Assuntos
Apraxias , Percepção da Fala , Apraxias/diagnóstico , Apraxias/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Fonética , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia
2.
Am J Speech Lang Pathol ; 30(3S): 1542-1557, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-33852328

RESUMO

Purpose Understanding what limits speech development in minimally verbal (MV) children with autism spectrum disorder (ASD) is important for providing highly effective targeted therapies. This preliminary investigation explores the extent to which developmental speech deficits predicted by Directions Into Velocities of Articulators (DIVA), a computational model of speech production, exemplify real phenotypes. Method Implementing a motor speech disorder in DIVA predicted that speech would become highly variable within and between tokens, while implementing a motor speech plus an auditory processing disorder predicted that DIVA's speech would become highly centralized (schwa-like). Acoustic analyses of DIVA's output predicted that acoustically measured phoneme distortion would be similar between the two cases, but that in the former case, speech would show more within- and between-token variability than in the latter case. We tested these predictions quantitatively on the speech of children with MV ASD. In Study 1, we tested the qualitative predictions using perceptual analysis methods. Speech pathologists blinded to the purpose of the study tallied the signs of childhood apraxia of speech that appeared in the speech of 38 MV children with ASD. K-means clustering was used to create two clusters from the group of 38, and analysis of variance was used to determine whether the clusters differed according to perceptual features corresponding to within- and between-token variability. In Study 2, we employed acoustic analyses on the speech of the child from each cluster who produced the largest number of analyzable tokens to test the predictions of differences in within-token variability, between-token variability, and vowel space area. Results Clusters produced by k-means analysis differed by perceptual features that corresponded to within-token variability. Nonsignificant differences between clusters were found for features corresponding to between-token variability. Subsequent acoustic analyses of the selected cases revealed that the speech of the child from the high-variability cluster showed significantly more quantitative within- and between-token variability than the speech of the child from the low-variability cluster. The vowel space of the child from the low-variability cluster was more centralized than that of typical children and that of the child from the high-variability cluster. Conclusions Results provide preliminary evidence that subphenotypes of children with MV ASD may exist, characterized by (a) comorbid motor speech disorder and (b) comorbid motor speech plus auditory processing disorder. The results motivate testable predictions about how these comorbidities affect speech. Supplemental Material https://doi.org/10.23641/asha.14384432.


Assuntos
Apraxias , Transtorno do Espectro Autista , Transtornos do Desenvolvimento da Linguagem , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Criança , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/terapia , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia
3.
Am J Speech Lang Pathol ; 30(3S): 1361-1372, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-33719524

RESUMO

Purpose This study describes motor speech disorders and associated communication limitations in six variants of progressive supranuclear palsy (PSP). Method The presence, nature, and severity of dysarthria and apraxia of speech (AOS) were documented, along with scores on the Apraxia of Speech Rating Scale-Version 3 (ASRS-3) for 77 (40 male and 37 female) patients with PSP. Clinician-estimated and patient-estimated communication limitations were rated using the Motor Speech Disorders Severity Rating (MSDSR) Scale and the Communicative Effectiveness Survey (CES), respectively. Descriptive statistics were calculated for each of these dependent variables. One-tailed t tests were conducted to test mean differences in ASRS-3 and CES between participants with and without AOS and between participants with and without dysarthria. Spearman rank correlations were calculated between ASRS-3 scores and clinical judgments of AOS and dysarthria severity and between MSDSR and CES ratings. Results Nine participants (12%) had normal speech. Eighty-seven percent exhibited dysarthria; hypokinetic and mixed hypokinetic-spastic dysarthria were observed most frequently. AOS was observed in 19.5% of participants across all variants, but in only 10% exclusive of the PSP speech and language variant. Nearly half presented with AOS in which neither phonetic nor prosodic features clearly predominated. The mean ASRS-3 score for participants with AOS was significantly higher than for those without and correlated strongly with clinician judgment of AOS severity. Mean ASRS-3 was higher for participants with dysarthria than for those without but correlated weakly with dysarthria severity. Mean MSDSR and CES ratings were lower in participants with AOS compared to those without and moderately correlated with each other. Conclusions Motor speech disorders that negatively impact communicative effectiveness are common in PSP and occur in many variants. This is the first description of motor speech disorders across PSP variants, setting the stage for future research characterizing neuroanatomical correlates, progression of motor speech disorders, and benefits of targeted interventions. Supplemental Material https://doi.org/10.23641/asha.14111837.


Assuntos
Apraxias , Paralisia Supranuclear Progressiva , Apraxias/diagnóstico , Disartria/diagnóstico , Feminino , Humanos , Idioma , Masculino , Fala , Distúrbios da Fala/diagnóstico , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/diagnóstico
4.
ABCS health sci ; 46: e021401, 09 fev. 2021. tab
Artigo em Inglês | LILACS | ID: biblio-1152238

RESUMO

INTRODUCTION: Among the communication impairments found in subjects with Autism Spectrum Disorders (ASD), recently the literature has suggested a comorbid relationship with childhood apraxia of speech (CAS). The aim of the present study was to report the CAS assessment of 3 children diagnosed with ASD. REPORT: The subjects were three children aged 4 to 6 years, with a medical diagnosis of ASD. The language development assessment (LDA) was performed in the subjects, as well as the ABFW vocabulary evaluation and oral praxis (verbal, orofacial, a sequence of movements, and parallel movements) and evaluation of vocal, prosodic, and speech characteristics. All subjects had moderate language delay with better performance in the receptive area. Difficulties in oral praxis tasks were more evident in one of the subjects. Vocal, prosodic and speech features of all the cases were compatible with CAS. CONCLUSION: In the 3 cases reported, CAS signs were identified with impaired oral motor skills, prosody, and oral praxis, as well as inconsistent speech sound production.


INTRODUÇÃO: Dentre as dificuldades de comunicação encontradas em casos de Transtornos do Espectro do Autismo (TEA), recentemente a literatura tem apontado uma relação de comorbidade com a apraxia de fala na infância (AFI). O objetivo do presente estudo foi relatar a avaliação de AFI em 3 crianças com diagnóstico de TEA. RELATO: Os sujeitos foram três crianças com idades entre 4 e 6 anos, com diagnóstico médico de TEA. Os sujeitos foram submetidos à avaliação de linguagem, utilizando o teste avaliação de desenvolvimento da linguagem (ADL) e a prova de vocabulário do teste ABFW, avaliação das praxias orais (sonorizadas, orofaciais, sequência de movimentos e movimentos paralelos) e avaliação de características vocais, prosódicas e de fala. Verificou-se que todos os sujeitos apresentaram atraso moderado de linguagem com melhor desempenho em área receptiva. A dificuldade nas tarefas práxicas orais foram mais evidentes em um dos casos estudados. Já as alterações vocais, prosódicas e de fala compatíveis com AFI apareceram em todos os casos relatados. CONCLUSÃO: Nos três casos relatados, foi possível observar sinais de AFI, com prejuízos em habilidades motoras orais, prosódia e praxias orais, assim como inconsistência na produção dos sons da fala.


Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Apraxias/diagnóstico , Fala , Distúrbios da Fala/diagnóstico , Saúde da Criança , Transtorno do Espectro Autista/complicações , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Desempenho Psicomotor , Destreza Motora
5.
Clin Neuropsychol ; 35(4): 799-818, 2021 05.
Artigo em Inglês | MEDLINE | ID: covidwho-1045928

RESUMO

Objective: To date, very few studies investigating neurocognitive deficits in COVID-19 have been published. This case series addresses cognition in post-COVID-19 patient by describing three patients in acute rehabilitation to inform a model of cognitive sequelae of COVID-19. Methods: Three English-speaking inpatients with severe symptoms and long-term intensive care unit (ICU) treatment are described. All patients had a premorbid history of hypertension and hyperlipidemia and experienced delirium and hypoxemia when hospitalized. Patient 1 is a 62-year-old male with 15 years of education with additional history of obstructive sleep apnea and type 2 diabetes. Patient 2 is a 73-year-old female with 12 years of education with a premorbid medical history of alcohol use disorder and Guillain-Barre syndrome. Patient 3 is a 75-year-old male with 14 years of education. No patients had premorbid psychiatric histories. Results: The three patients demonstrated deficits on formal neuropsychological testing, particularly with encoding and verbal fluency. Memory measures improved with a more structured story memory task compared to a less-structured verbal list-learning task, suggesting executive dysfunction impacted learning. None of the patients demonstrated rapid forgetting of information. Two patients endorsed new depressive and/or anxiety symptoms. Conclusions: The results suggest evidence for neurocognitive deficits after severe COVID-19 infection, particularly in encoding and verbal fluency. These results were interpreted with caution given the limited number of patients and the telephone-based battery. The specific mechanism that caused these cognitive deficits in these individuals remains unclear. A proposed three-stage model of cognitive dysfunction is described to help guide future research.


Assuntos
COVID-19 , Transtornos Cognitivos/diagnóstico , Diabetes Mellitus Tipo 2 , SARS-CoV-2 , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Distúrbios da Fala/diagnóstico
7.
Clin Neuropsychol ; 35(4): 799-818, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33487098

RESUMO

Objective: To date, very few studies investigating neurocognitive deficits in COVID-19 have been published. This case series addresses cognition in post-COVID-19 patient by describing three patients in acute rehabilitation to inform a model of cognitive sequelae of COVID-19. Methods: Three English-speaking inpatients with severe symptoms and long-term intensive care unit (ICU) treatment are described. All patients had a premorbid history of hypertension and hyperlipidemia and experienced delirium and hypoxemia when hospitalized. Patient 1 is a 62-year-old male with 15 years of education with additional history of obstructive sleep apnea and type 2 diabetes. Patient 2 is a 73-year-old female with 12 years of education with a premorbid medical history of alcohol use disorder and Guillain-Barre syndrome. Patient 3 is a 75-year-old male with 14 years of education. No patients had premorbid psychiatric histories. Results: The three patients demonstrated deficits on formal neuropsychological testing, particularly with encoding and verbal fluency. Memory measures improved with a more structured story memory task compared to a less-structured verbal list-learning task, suggesting executive dysfunction impacted learning. None of the patients demonstrated rapid forgetting of information. Two patients endorsed new depressive and/or anxiety symptoms. Conclusions: The results suggest evidence for neurocognitive deficits after severe COVID-19 infection, particularly in encoding and verbal fluency. These results were interpreted with caution given the limited number of patients and the telephone-based battery. The specific mechanism that caused these cognitive deficits in these individuals remains unclear. A proposed three-stage model of cognitive dysfunction is described to help guide future research.


Assuntos
COVID-19 , Transtornos Cognitivos/diagnóstico , Diabetes Mellitus Tipo 2 , SARS-CoV-2 , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Distúrbios da Fala/diagnóstico
10.
Am J Speech Lang Pathol ; 30(1): 63-74, 2021 01 27.
Artigo em Inglês | MEDLINE | ID: covidwho-983891

RESUMO

Purpose Evaluation and management of voice and upper airway disorders in adults and children, by speech-language pathologists worldwide, have been significantly altered by the COVID-19 pandemic. Secondary to the pathogenic nature of the virus in the respiratory tract and upper airway, it is essential that speech-language pathologists who specialize in these disorders are knowledgeable of current practices to provide evidence-based care while minimizing viral transmission. Understanding how and when SARS-CoV-2 spreads is critical to the development of effective infection prevention within clinical practices. Method We established an evidence-based clinical practice guide for clinicians working with voice and upper airway through a comprehensive evaluation of peer-reviewed journals, non-peer-reviewed manuscripts on preprint servers, national health guidelines, and published and online consensus statements and emerging data. Emphasis was placed on risk mitigation for viral transmission via safe clinical practices, including evaluative procedures, therapy including telehealth, personal protective equipment, room, staffing, and distancing considerations. Results/Conclusions While knowledge relevant to viral transmission of SARS-CoV-2 is rapidly evolving, there is a paucity of literature specific to the evaluation and treatment of voice and upper airway disorders. Within these confines and given the potentially significant high risk of infection secondary to the nature of COVID-19, we summarize current considerations and recommend best practices that maximize risk mitigation whereby ensuring patient and provider safety.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , COVID-19/diagnóstico , Distúrbios da Fala/diagnóstico , Distúrbios da Voz/diagnóstico , Adulto , Obstrução das Vias Respiratórias/terapia , COVID-19/terapia , Criança , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco , Distúrbios da Fala/terapia , Distúrbios da Voz/terapia
11.
Am J Speech Lang Pathol ; 30(1): 63-74, 2021 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-33332145

RESUMO

Purpose Evaluation and management of voice and upper airway disorders in adults and children, by speech-language pathologists worldwide, have been significantly altered by the COVID-19 pandemic. Secondary to the pathogenic nature of the virus in the respiratory tract and upper airway, it is essential that speech-language pathologists who specialize in these disorders are knowledgeable of current practices to provide evidence-based care while minimizing viral transmission. Understanding how and when SARS-CoV-2 spreads is critical to the development of effective infection prevention within clinical practices. Method We established an evidence-based clinical practice guide for clinicians working with voice and upper airway through a comprehensive evaluation of peer-reviewed journals, non-peer-reviewed manuscripts on preprint servers, national health guidelines, and published and online consensus statements and emerging data. Emphasis was placed on risk mitigation for viral transmission via safe clinical practices, including evaluative procedures, therapy including telehealth, personal protective equipment, room, staffing, and distancing considerations. Results/Conclusions While knowledge relevant to viral transmission of SARS-CoV-2 is rapidly evolving, there is a paucity of literature specific to the evaluation and treatment of voice and upper airway disorders. Within these confines and given the potentially significant high risk of infection secondary to the nature of COVID-19, we summarize current considerations and recommend best practices that maximize risk mitigation whereby ensuring patient and provider safety.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , COVID-19/diagnóstico , Distúrbios da Fala/diagnóstico , Distúrbios da Voz/diagnóstico , Adulto , Obstrução das Vias Respiratórias/terapia , COVID-19/terapia , Criança , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco , Distúrbios da Fala/terapia , Distúrbios da Voz/terapia
12.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 40(4): 187-193, oct.-dic. 2020.
Artigo em Espanhol | IBECS | ID: ibc-198693

RESUMO

Actualmente, existe un alto flujo de migración entre países debido a una multitud de factores tanto de índole político, social o económico y, en la mayoría de los casos, las personas no hablan el idioma del país donde van a establecerse. En este artículo se ofrecen sugerencias para lograr una colaboración óptima entre un/a intérprete de lenguas y el/la maestra de audición y lenguaje (AL) o el/la logopeda que desempeña su profesión en las escuelas en el caso de niños con lenguas familiares diferentes a la del contexto. En la primera sección del artículo se cubrirá una revisión del desarrollo de la tarea del intérprete como profesión. El proceso de colaboración entre un intérprete de lenguas y un logopeda o maestro AL que trabaja en las escuelas se ilustrará mediante la descripción del caso de Nadia, cuya familia emigró recientemente de Rumania a Madrid. Se cubrirán los siguientes temas: 1) Definiciones; 2) Características y responsabilidades del intérprete; 3) Responsabilidades del logopeda o maestro AL; 4) Cómo lograr un proceso adecuado dada la escasez de investigaciones sobre este tema en tres contextos diferentes: a) durante una entrevista con los padres de un estudiante que parece tener problemas del habla y lenguaje; b) durante la evaluación del habla y lenguaje del estudiante y c) durante el informe de resultados. En la parte final de este artículo se facilitará un resumen con ideas para formalizar este complicado proceso


There is currently a high flow of migration between countries due to many factors, political, social, and economic. In most cases, the people do not speak the language of the country where they will eventually settle. This article offers suggestions for optimal collaboration between a language interpreter and the hearing and language (HL) teacher or speech and language therapist who works in schools for children with family languages other than those of the context. The first section of the article will cover a review of how the interpreter's task is developing as a profession. The process of collaboration between a language interpreter and a speech and language therapist or HL teacher working in schools will be illustrated by describing the case of Nadia, whose family recently emigrated from Romania to Madrid. The following themes will be covered: 1) Definitions; 2) Characteristics and responsibilities of the interpreter; 3) Responsibilities of the speech and language therapist or HL teacher; 4) How to achieve an adequate process given the little research in this area in three different contexts: a) during an interview with the parents of a pupil who appears to have speech-language problems; b) during the assessment of the pupil's speech and language; and c) during the reporting of results. A summary with ideas for formalising this complicated process will be provided at the end of this article


Assuntos
Humanos , Feminino , Criança , Serviços de Saúde Escolar , Distúrbios da Fala/diagnóstico , Professores Escolares , Multilinguismo , Traduções , Fonoterapia
13.
IEEE Trans Neural Syst Rehabil Eng ; 28(12): 2880-2889, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33141673

RESUMO

Speech disorders linked to neurological problems affect person's ability to communicate through speech. Dysarthria is one of the speech disorders caused due to muscle weakness producing slow, slurred and less intelligible speech. Automatic intelligibility assessment of dysarthria from speech can be used as a promising clinical tool in treatment. This paper explores the use of perceptually enhanced Fourier transform spectrograms and Constant-Q transform spectrograms with CNN to assess word level and sentence level intelligibility of dysarthric speech from UA and TORGO databases. Constant-Q transform and perceptually enhanced mel warped STFT spectrograms performed better in the classification task.


Assuntos
Disartria , Inteligibilidade da Fala , Cognição , Disartria/diagnóstico , Humanos , Distúrbios da Fala/diagnóstico , Medida da Produção da Fala
14.
Zh Nevrol Psikhiatr Im S S Korsakova ; 120(10. Vyp. 2): 61-66, 2020.
Artigo em Russo | MEDLINE | ID: mdl-33205932

RESUMO

OBJECTIVE: To study clinical and neurophysiological features of speech disorders in PD, multisystem atrophy (MSA) and progressive supranuclear palsy (PNP). MATERIAL AND METHODS: Thirty-one patients with PD and 14 patients with MSA and PSP were examined. The Unified rating scale for Parkinson's disease of the International movement disorders society (MDS-UPDRS) and a neurophysiological analysis of speech disorders using acoustic spectral analysis of voice and speech according to the method of Jan Rusz et al (2004) were used. RESULTS: Patients with PD showed a parallel increase in the severity of axial motor disorders (hypomimia, walking disorders, postural disorders) and speech disorders. Patients with MSA and PSP differ not only from the PD patients but also among themselves by clinical presentations (motor, autonomic, cognitive) and speech disorders. CONCLUSION: The clinical and neurophysiological features of speech disorders in patients with various variants of parkinsonism will be useful in the differential diagnosis of these diseases and can be used in developing approaches to patient rehabilitation.


Assuntos
Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Humanos , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/diagnóstico
15.
J Speech Lang Hear Res ; 63(12): 3945-3960, 2020 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-33201753

RESUMO

Purpose Poor nonword repetition accuracy is a hallmark of children with developmental language disorder (DLD). However, other diagnostic categories also show impaired nonword repetition performance relative to children with typical development (TD); therefore, this task is currently a sensitive but nonspecific index of DLD. In this study, we investigated segmental and kinematic aspects of nonword repetition performance to further specify the diagnostic utility of nonword repetition tasks (NRTs) in diagnosing DLD. Method Forty children, ages 48-86 months, participated, including children with DLD (n = 12), speech sound disorder (SSD; n = 14), and TD (n = 14). All children completed an assessment battery to determine group classification, a classic NRT (Dollaghan & Campbell, 1998), and an experimental NRT designed to measure segmental and articulatory (specifically lip aperture) variability. We assessed nonword repetition accuracy in the classic and experimental NRTs and segmental and kinematic variability in the experimental NRT. Results In both the classic and experimental NRTs, children with SSD and DLD produced nonwords with lower phoneme and consonant accuracy compared to children with TD. Children with DLD produced more vowel errors compared to children with TD in both tasks. In the experimental NRT, children with DLD produced nonwords with high levels of segmental variability compared to children with TD. Children with SSD did not differ from children with TD or children with DLD in the vowel accuracy or the segmental variability measures. The articulatory variability measure did not reveal any group differences. Conclusions In the presence of speech sound difficulties, low nonword repetition accuracy does not aid in the diagnosis of DLD. However, vowel accuracy and segmental variability appear specific to DLD status in NRTs.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Gagueira , Fenômenos Biomecânicos , Criança , Pré-Escolar , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Fonética , Distúrbios da Fala/diagnóstico
17.
J Clin Exp Neuropsychol ; 42(9): 924-931, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32981449

RESUMO

The verbal fluency test (VFT) is utilized in neuropsychology to evaluate the cognitive function of the prefrontal cortex (PFC) in the human brain. We present a novel Chinese VFT similar to the established Japanese VFT; both tests prompt a syllable to the subject. However, it was uncertain whether the Chinese VFT can activate the PFC and whether PFC activation patterns are similar between the two tests. Here we administered the Chinese VFT to 30 native Chinese speakers and the Japanese VFT to 30 native Japanese speakers. We used near-infrared spectroscopy (NIRS) to observe PFC activation. Then we compared the similarities between the Chinese VFT and the Japanese VFT. The subjects generated an average of 12.8 ± 4.7 words during the Chinese VFT. NIRS indicates that the concentration of oxygenated hemoglobin during the test was significantly higher than those before and after the test. It exhibited similar PFC activation patterns with the Japanese VFT. The novel Chinese VFT can activate the PFC in the human brain effectively in Chinese speakers. Our work thus provides the first validated phonetically cued Chinese VFT, unique from other not strictly phonemic Chinese VFTs, and facilitates the diagnosis of various PFC-related cognitive impairments.


Assuntos
Comparação Transcultural , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Distúrbios da Fala/fisiopatologia , Adulto , China , Disfunção Cognitiva/fisiopatologia , Sinais (Psicologia) , Feminino , Humanos , Japão , Idioma , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Oxiemoglobinas/metabolismo , Córtex Pré-Frontal/fisiopatologia , Distúrbios da Fala/diagnóstico , Comportamento Verbal/fisiologia
18.
Int. j. med. surg. sci. (Print) ; 7(3): 1-16, sept. 2020. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1151876

RESUMO

La apraxia del habla infantil (AHI) es un trastorno pediátrico poco común, en el que, si el niño o niña no es diagnosticado a tiempo, puede desencadenar graves consecuencias a futuro. Los métodos de diagnóstico existentes para este trastorno se encuentran disponibles en idiomas distintos al español, lo que conlleva una dificultad para encontrar un método de diagnóstico válido y consensuado por los fonoaudiólogos para aplicarse a la población hispanohablantes. Es por estoque este estudio pretende dar un primer aporte, realizando la traducción de una herramienta de pesquisa apta para el idioma español, que permita facilitar la labor fonoaudiológica en el diagnóstico. El método que se utilizará es el de traducción y validación de una herramienta de evaluación en salud, al cual se va a incorporar el análisis de un panel de expertos para brindarle validez al instrumento. Los resultados muestran una amplia aceptación del instrumento (94%resultados positivos) con un buen acuerdo entre jueces (IRR inter rater reliability) presentada como probabilidad de acuerdo para todo el instrumento de 0,57 (57%). En conclusión, este estudio brinda una pauta de pesquisa para la AHI, con el fin de facilitar la evaluación fonoaudiológica temprana de los niños y niñas, permitiendo que los usuarios puedan acceder a una atención especializada y confiable acordes con el diagnóstico.


Childhood apraxia of speech (CAS), is a rare disorder during childhood, and it can trigger serious consequences in the future if not treated promptly. The existing diagnostic methods for this disorder are found in the English language only, which leads to difficulties in finding valid and agreed diagnostic methods by speech therapists to apply to the Spanish-speaking population. Hence, this study aims to provide the translation of an evaluation tool which is suitable for Spanish-speaking countries and that facilitates phonoaudiological work in the diagnosis. The method that will be used is that of translation-retranslation, to which the analysis of an expert opinion will be incorporated to give validity to the instrument. The results expose a wide acceptance of the instrument (94% of positive results) with substantial agreement among experts (IRR inter rater reliability), presented as agreement probability for the entire instrument of 0.57 (57%). In conclusion, this study provides a research pattern for AHI, to facilitate the early phonoaudiological evaluation of children, allowing the patients to access reliable care regarding to diagnosis.


Assuntos
Apraxias/diagnóstico , Distúrbios da Fala/diagnóstico , Tradução , Inquéritos e Questionários , Fonoaudiologia/métodos
19.
Int J Pediatr Otorhinolaryngol ; 138: 110316, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32829202

RESUMO

BACKGROUND: Moebius syndrome (MS) is characterized by congenital bilateral paralysis of the facial and abducens nerves. Clinical features include feeding problems, dysarthria, dysphagia, sialorrhea, strabismus, and lack of facial expression. Patients with MS frequently present with dysphagia during infancy. Further on during childhood a severe speech disorder is a common feature. However, articulation deficits in patients with MS are scarcely reported in the related scientific literature. OBJECTIVE: The aim of this study is to describe speech deviations, intelligibility and sialorrhea in patients with MS. MATERIAL AND METHODS: Eighty-seven patients with MS were prospectively studied. Age ranged from 4 to 18 years. A complete Speech and Language Pathology (SLP) evaluation was performed in all cases. The evaluation focused on articulation placement, sialorrhea and intelligibility of speech. RESULTS: Sialorrhea was detected in 23% of the patients. Abnormal articulation placement of bilabial phonemes was observed in 68% of the patients. Another 50% of the patients presented with articulation placement errors in other phonemes. Intelligibility was classified as adequate in 18% of the cases. Mildly affected intelligibility was found in 51% of the patients. Speech was considered moderately unintelligible in 20% of the cases. Unintelligible speech was found in 11% of the patients. CONCLUSIONS: From the results of this prospective study it can be concluded that a high percentage of patients with MS are at high risk of presenting with moderate to severe speech disorders. Thus, an early SLP intervention should be provided for this population in order to enhance speech development and reducing the risk of severe oral communication impairments.


Assuntos
Síndrome de Möbius , Distúrbios da Fala/diagnóstico , Adolescente , Transtornos da Articulação , Criança , Pré-Escolar , Humanos , Síndrome de Möbius/complicações , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/terapia , Estudos Prospectivos , Fala , Distúrbios da Fala/etiologia , Distúrbios da Fala/terapia , Inteligibilidade da Fala
20.
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
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