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1.
Eur J Hum Genet ; 32(4): 440-447, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38308083

RESUMO

With increasing gene discoveries for severe speech disorders, genomic testing can alter the diagnostic and clinical paradigms, enabling better life outcomes for children and their families. However, evidence on the value of the outcomes generated is lacking, impeding optimal translation into health care. This study aims to estimate the value and uptake of genomic testing for severe childhood speech disorders. A discrete choice experiment was undertaken to elicit preferences for genomic testing from the perspective of the Australian public (n = 951) and parents of children experiencing severe speech disorder (n = 56). Choice attributes associated with genomic testing were identified through focus groups. A Bayesian D-efficient design was used to develop choice scenarios and choice data were analyzed using a panel error component mixed logit model and a latent class model. Statistically significant preferences were identified across all seven attributes. The mean monetary value of the benefits of genomic testing relative to standard diagnostic care in Australia was estimated at AU$7489 (US$5021) and AU$4452 (US$2985) from the perspectives of the Australian public and families with lived experience of severe speech disorders, with a corresponding test uptake of 94.2% and 99.6%. To ensure fair prioritization of genomics, decision-makers need to consider the wide range of risks and benefits associated with genomic information.


Assuntos
Comportamento de Escolha , Testes Genéticos , Criança , Humanos , Austrália , Teorema de Bayes , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/genética , Inquéritos e Questionários , Preferência do Paciente
2.
Biomed Eng Online ; 23(1): 15, 2024 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-38311731

RESUMO

Automatic speech assessments have the potential to dramatically improve ALS clinical practice and facilitate patient stratification for ALS clinical trials. Acoustic speech analysis has demonstrated the ability to capture a variety of relevant speech motor impairments, but implementation has been hindered by both the nature of lab-based assessments (requiring travel and time for patients) and also by the opacity of some acoustic feature analysis methods. These challenges and others have obscured the ability to distinguish different ALS disease stages/severities. Validation of automated acoustic analysis tools could enable detection of early signs of ALS, and these tools could be deployed to screen and monitor patients without requiring clinic visits. Here, we sought to determine whether acoustic features gathered using an automated assessment app could detect ALS as well as different levels of speech impairment severity resulting from ALS. Speech samples (readings of a standardized, 99-word passage) from 119 ALS patients with varying degrees of disease severity as well as 22 neurologically healthy participants were analyzed, and 53 acoustic features were extracted. Patients were stratified into early and late stages of disease (ALS-early/ALS-E and ALS-late/ALS-L) based on the ALS Functional Ratings Scale-Revised bulbar score (FRS-bulb) (median [interquartile range] of FRS-bulbar scores: 11[3]). The data were analyzed using a sparse Bayesian logistic regression classifier. It was determined that the current relatively small set of acoustic features could distinguish between ALS and controls well (area under receiver-operating characteristic curve/AUROC = 0.85), that the ALS-E patients could be separated well from control participants (AUROC = 0.78), and that ALS-E and ALS-L patients could be reasonably separated (AUROC = 0.70). These results highlight the potential for automated acoustic analyses to detect and stratify ALS.


Assuntos
Esclerose Amiotrófica Lateral , Humanos , Esclerose Amiotrófica Lateral/diagnóstico , Teorema de Bayes , Fala , Distúrbios da Fala/diagnóstico , Curva ROC
3.
JAMA ; 331(4): 335-351, 2024 01 23.
Artigo em Inglês | MEDLINE | ID: mdl-38261038

RESUMO

Importance: Children with speech and language difficulties are at risk for learning and behavioral problems. Objective: To review the evidence on screening for speech and language delay or disorders in children 5 years or younger to inform the US Preventive Services Task Force. Data Sources: PubMed/MEDLINE, Cochrane Library, PsycInfo, ERIC, Linguistic and Language Behavior Abstracts (ProQuest), and trial registries through January 17, 2023; surveillance through November 24, 2023. Study Selection: English-language studies of screening test accuracy, trials or cohort studies comparing screening vs no screening; randomized clinical trials (RCTs) of interventions. Data Extraction and Synthesis: Dual review of abstracts, full-text articles, study quality, and data extraction; results were narratively summarized. Main Outcomes and Measures: Screening test accuracy, speech and language outcomes, school performance, function, quality of life, and harms. Results: Thirty-eight studies in 41 articles were included (N = 9006). No study evaluated the direct benefits of screening vs no screening. Twenty-one studies (n = 7489) assessed the accuracy of 23 different screening tools that varied with regard to whether they were designed to be completed by parents vs trained examiners, and to screen for global (any) language problems vs specific skills (eg, expressive language). Three studies assessing parent-reported tools for expressive language skills found consistently high sensitivity (range, 88%-93%) and specificity (range, 88%-85%). The accuracy of other screening tools varied widely. Seventeen RCTs (n = 1517) evaluated interventions for speech and language delay or disorders, although none enrolled children identified by routine screening in primary care. Two RCTs evaluating relatively intensive parental group training interventions (11 sessions) found benefit for different measures of expressive language skills, and 1 evaluating a less intensive intervention (6 sessions) found no difference between groups for any outcome. Two RCTs (n = 76) evaluating the Lidcombe Program of Early Stuttering Intervention delivered by speech-language pathologists featuring parent training found a 2.3% to 3.0% lower proportion of syllables stuttered at 9 months compared with the control group when delivered in clinic and via telehealth, respectively. Evidence on other interventions was limited. No RCTs reported on the harms of interventions. Conclusions and Relevance: No studies directly assessed the benefits and harms of screening. Some parent-reported screening tools for expressive language skills had reasonable accuracy for detecting expressive language delay. Group parent training programs for speech delay that provided at least 11 parental training sessions improved expressive language skills, and a stuttering intervention delivered by speech-language pathologists reduced stuttering frequency.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Programas de Rastreamento , Serviços Preventivos de Saúde , Criança , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia , Gagueira/etiologia , Guias de Prática Clínica como Assunto , Lactente , Pré-Escolar
4.
Am J Speech Lang Pathol ; 33(1): 485-504, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-37931079

RESUMO

INTRODUCTION: Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM. METHOD: All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere. RESULTS: Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited. CONCLUSIONS: Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24424555.


Assuntos
Transtornos da Comunicação , Síndrome de Goldenhar , Criança , Adolescente , Humanos , Estados Unidos , Síndrome de Goldenhar/complicações , Síndrome de Goldenhar/diagnóstico , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Fenótipo
5.
Clin Linguist Phon ; 38(1): 82-96, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36600483

RESUMO

Babbling is an important precursor to speech in infancy, and deviations from the typical babbling development can predict later difficulties in speech, language, and communication. This cross-sectional study aimed to investigate babbling and early speech in Swedish extremely premature infants. Samples of babbling were collected from 20 extremely premature infants (EPT group) at the corrected age of 12 months. Data collection was home-based and consisted of an audio-video recording of each infant playing with a parent. Presence of canonical babbling (CB), and three oral stop variables distinctive of typical babbling, and consonant inventory were assessed. The assessment was performed during a standardised observation of babbling. Data from the EPT group were compared to previously collected data of a reference group of 20 10-month-old infants without known medical diagnoses. The results showed that the EPT group had a lower proportion of infants producing CB, and that they used a significantly smaller consonant inventory compared to the reference group. Although not statistically significant, oral stops were less frequently found in the EPT group. The findings of a restricted consonant inventory and low proportion of CB in the EPT group are not surprising considering that the group has been found to be at risk of speech and language delay in toddlerhood. Still, further research is needed to explore whether babbling at 12 months can predict speech and language skills at an older age in extremely premature infants.


Assuntos
Linguagem Infantil , Lactente Extremamente Prematuro , Recém-Nascido , Lactente , Criança , Humanos , Estudos Transversais , Distúrbios da Fala/diagnóstico , Fala , Desenvolvimento da Linguagem
6.
BMJ Open ; 13(12): e071571, 2023 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-38154881

RESUMO

OBJECTIVES: Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, including measures of speech assessment. This study evaluates the type and timing of speech outcome measures currently included in this ICHOM Standard Set. Additionally, speech assessments in other cleft protocols and initiatives are discussed. DESIGN, SETTING AND PARTICIPANTS: An international, multicentre study was set up including centres from the USA and the Netherlands. Outcomes of clinical measures and Patient Reported Outcome Measures (PROMs) were collected retrospectively according to the ICHOM set. PROM data from a field test of the CLEFT-Q, a questionnaire developed and validated for patients with a cleft, were collected, including participants from countries with all sorts of income statuses, to examine the value of additional moments of measurement that are used in other cleft initiatives.Data from 2500 patients were included. Measured outcomes contained univariate regression analyses, trend analyses, t-tests, correlations and floor and ceiling effects. RESULTS: PROMs correlated low to moderate with clinical outcome measures. Clinical outcome measures correlated low to moderate with each other too. In contrast, two CLEFT-Q Scales correlated strongly with each other. All PROMs and the Percent Consonants Correct (PCC) showed an effect of age. In patients with an isolated cleft palate, a ceiling effect was found in the Intelligibility in Context Scale. CONCLUSION: Recommendations for an optimal speech outcome assessment in cleft patients are made. Measurement moments of different cleft protocols and initiatives are considered in this proposition. Concerning the type of measures, adjustment of the current PCC score outcome seems appropriate. For centres with adequate resources and specific interest in research, translation and validation of an upcoming tool, the Cleft Audit Protocol for Speech Augmented, is recommended.


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Fissura Palatina/complicações , Fenda Labial/complicações , Fala , Estudos Retrospectivos , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia
7.
Zh Nevrol Psikhiatr Im S S Korsakova ; 123(9. Vyp. 2): 87-91, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37942978

RESUMO

Speech disorders still remains one of the cornerstones of pediatric neurology. Against the backdrop of gene diagnostic development, there are a huge amount of information about the role of genetic and chromosomal abnormalities in pathogenesis of speech disorders. In present article authors presenting an actual data on genetic basis of different types of speech disorders. Moreover, authors describing a clinical case of a patient with genetically determined developmental disorder, caused by KMT5B mutation validated by Sanger method.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Distúrbios da Fala , Humanos , Criança , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/genética , Distúrbios da Fala/complicações , Mutação , Aberrações Cromossômicas , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Fala
8.
Codas ; 36(1): e20220251, 2023.
Artigo em Português, Inglês | MEDLINE | ID: mdl-37851756

RESUMO

PURPOSE: To develop an assessment protocol for speech motor planning with phonologically balanced stimuli for Brazilian Portuguese, including all necessary variables for this diagnosis. METHODS: Three stages were carried out: In the first, word lists were built with the main criterion being syllabic and accentual patterns. From the survey conducted in Stage 1, the words that composed the first version of the protocol lists in Stage 2 were selected, and grouped into two fundamental tasks for diagnosing acquired apraxia of speech (AOS): repetition and Reading Aloud (RA). In Stage 3, the occurrence of words was investigated using the Brazilian Corpus (PUC-SP) - Linguateca database, and a statistical analysis was performed to verify if the repetition and RA lists were balanced in terms of the occurrences. Thus, the lists were distributed in quartiles and submitted to both descriptive and bivariate analyses. A significance level of 5% (p<0.05) was adopted. RESULTS: After completion of all stages, the words that composed the lists of the repetition and RA tasks were obtained. Finally, other tasks considered essential for the assessment of AOS, such as diadochokinetic rates and the board for spontaneous oral emission, were then added to the protocol. CONCLUSION: The developed protocol contains the tasks considered standard for the assessment of AOS according to the international literature, which makes this instrument important for diagnosing this disorder in speakers of Brazilian Portuguese.


OBJETIVO: Elaborar um protocolo de avaliação do planejamento motor da fala com estímulos fonologicamente balanceados para o português brasileiro e que contemple todas as variáveis necessárias para este diagnóstico. MÉTODO: Foram realizadas três etapas: Na primeira, construíram-se listas de palavras cujo critério principal foram os padrões silábicos e acentuais. Do levantamento realizado na Etapa 1, procedeu-se à seleção dos vocábulos que compuseram a primeira versão do protocolo na Etapa 2, reunidas em duas tarefas: de repetição e de Leitura em Voz Alta (LVA). Em seguida, investigou-se a ocorrência das palavras usando a base de dados do Corpus Brasileiro (PUC-SP) - Linguateca. Na etapa 3 realizou-se a análise estatística para verificar se as listas de repetição e de LVA estavam equilibradas quanto à ocorrência das palavras. Assim, as listas foram distribuídas em quartis e foram analisadas de forma descritiva e bivariada. O nível de significância utilizado foi de 5%. RESULTADOS: Após a realização de todas as etapas, foi possível obter as palavras que compuseram as listas das tarefas de repetição e de LVA. Finalmente, foram então acrescidas ao protocolo as demais tarefas consideradas essenciais para a avaliação da apraxia como as taxas diadococinéticas e a prancha para a emissão oral espontânea. CONCLUSÃO: O protocolo desenvolvido contém as tarefas consideradas padrão para a avaliação da apraxia de fala pela literatura internacional, o que torna esse instrumento importante para o diagnóstico desse distúrbio em falantes do português brasileiro.


Assuntos
Apraxias , Fala , Humanos , Distúrbios da Fala/diagnóstico , Medida da Produção da Fala , Apraxias/diagnóstico , Idioma
9.
J Fluency Disord ; 77: 105992, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37393778

RESUMO

BACKGROUND AND PURPOSE: Developmental stuttering and Tourette syndrome (TS) are common neurodevelopmental disorders. Although disfluencies may co-occur in TS, their type and frequency do not always represent pure stuttering. Conversely, core symptoms of stuttering may be accompanied by physical concomitants (PCs) that can be confused for tics. This scoping review aimed to explore the similarities and differences between stuttering and tics in terms of epidemiology, comorbidities, phenomenology, evolution, physiopathology, and treatment. We also described the nature of PCs in stuttering and disfluencies in TS. METHODS: A literature search on Medline, Embase and PsycInfo was executed in March 2022. From 426 studies screened, 122 were included in the review (a majority being narrative reviews and case reports). RESULTS: TS and stuttering have several epidemiological, phenomenological, comorbidity, and management similarities suggesting shared risk factors and physiopathology (involving the basal ganglia and their connections with speech and motor control cortical regions). PCs in stuttering commonly involve the face (eyelids, jaw/mouth/lip movements) and sometimes the head, trunk and limbs. PCs can be present from early stages of stuttering and vary over time and within individuals. The function of PCs is unknown. Some individuals with TS have a distinct disfluency pattern, composed of a majority of typical disfluencies (mostly between-word disfluencies), and a mix of cluttering-like behaviors, complex phonic tics (e.g. speech-blocking tics, echolalia, palilalia), and rarely, atypical disfluencies. CONCLUSION: Future investigations are warranted to better understand the complex relationships between tics and stuttering and address the management of disfluencies in TS and PCs in stuttering.


Assuntos
Gagueira , Tiques , Síndrome de Tourette , Humanos , Gagueira/complicações , Gagueira/epidemiologia , Gagueira/diagnóstico , Síndrome de Tourette/complicações , Síndrome de Tourette/epidemiologia , Tiques/complicações , Tiques/epidemiologia , Distúrbios da Fala/diagnóstico , Fala
10.
Int J Lang Commun Disord ; 58(6): 2022-2032, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37341168

RESUMO

BACKGROUND: Cluttering is a fluency disorder characterized by an abnormally fast or irregular speech delivery rate along with disfluencies that are frequent but are not judged to be stuttering. Data on cluttering prevalence in the general population are scarce, as well as its association with psychological well-being indices, such as anxiety, and depressive symptoms. AIMS: To estimate cluttering prevalence among undergraduates, as well as its relationship with psychological and well-being indicators. METHODS & PROCEDURES: To address these issues, a large sample (n = 1582) of undergraduates completed a questionnaire that provided a lay definition of cluttering and were asked to identify themselves as clutterers (SI-Clut), as well as to indicate the presence of several psychological and mental well-being indices. OUTCOMES & RESULTS: A total of 276 respondents (23%) self-identified as clutterers (now or in the past), with 55.1% of those being male. Only 56 respondents (3.5% of the total sample; about 21% of SI-Clut) reported having received speech therapy for cluttering. Relative to students self-identifying as non-clutterers, self-identification of cluttering was associated with higher levels of psychosomatic symptoms, depressive symptoms and stress, indicating a tendency toward internalizing psychopathology, along with lower self-esteem, and lower subjective happiness. CONCLUSIONS & IMPLICATIONS: The current findings point to the high prevalence of students self-identifying as clutterers, along with a significant link between cluttering and mental distress. Therefore, it is important to increase public awareness of cluttering, its diagnosis and treatment. From the clinical perspective, the elevated levels of somatic complaints, anxiety and depression may represent internalizing psychopathology, associated with more covert rather than overt symptomatology. Such symptom manifestation calls for special attention from the speech-language pathologists providing cluttering therapy, using designated well-being or mental health screening tools. Although data on standard cluttering treatment are limited, it should be customized to the client's unique difficulties. Speech-language pathologists' understanding of cluttering, which includes both speech characteristics as well as psychological and social aspects of well-being, may assist them in implementing effective treatments. WHAT THIS PAPER ADDS: What is already known on the subject Cluttering is a fluency disorder characterized by an abnormally fast or irregular speech rate, along with various disfluencies and articulatory imprecision. It may co-occur with other disorders, such as learning disabilities, and attention-deficit/hyperactivity disorder. Data on cluttering prevalence and its association with psychological well-being indices, such as anxiety and depression, are limited. What this paper adds to existing knowledge A total of 276 undergraduates (23%) self-identified as clutterers, of whom 55.1% were males. A total of 56 respondents (3.5% of the total sample, and about 21% of undergraduates self-identified as clutterers) reported having received speech therapy for cluttering. Psychosomatic symptoms, depressive symptoms and stress levels were higher among these students, suggesting a tendency toward internalizing psychopathology, along with a lower sense of self-esteem and subjective happiness. What are the potential or actual clinical implications of this work? The high prevalence of students self-identifying as clutterers, along with the low percentage of respondents who received speech therapy for cluttering, emphasize the need to raise public awareness of the problem, its diagnosis and treatment (Reichel et al., 2010). The association between cluttering and mental distress requires speech-language pathologists to be aware that cluttering may have covert symptomatology, similar to stuttering, which should be addressed in therapy.


Assuntos
Gagueira , Humanos , Masculino , Feminino , Gagueira/diagnóstico , Prevalência , Bem-Estar Psicológico , Distúrbios da Fala/diagnóstico , Estudantes
11.
Int J Lang Commun Disord ; 58(5): 1783-1798, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37227048

RESUMO

BACKGROUND: AIMS: To investigate the developmental trajectory of the rate and perceptual assessment of oral diadochokinesis (DDK) in typically developing children compared with adults. Also to examine the characteristics of DDK productions in children with speech sound disorders (SSD) and the relationship between DDK production and percentage of consonants correct (PCC). METHODS & PROCEDURES: Participants were 316 typically developing children and 90 children with SSD from 3 to 9 years old, as well as 20 adults with normal speech. The mono-, bi- and trisyllabic nonsense strings containing Korean tense consonants and the vowel [a] were used for DDK tasks. The number of iterations per s was measured as the DDK rate for each stimulus. The perceptual assessment of DDK productions was also performed for regularity, accuracy and rate. OUTCOMES & RESULTS: The DDK rates increased throughout childhood, but the oldest children, 9-year-olds in the current study, did not achieve adult-like rates for all mono- and trisyllabic strings. Children with SSD also did not show significant differences from typically developing children when the DDK productions were analysed using only accurate tokens. The PCC of children with SSD showed higher correlations with regularity, accuracy and rate of perceptual ratings than the timed DDK rate. CONCLUSIONS & IMPLICATIONS: This study highlighted the fact that the comprehensive evaluation of DDK productions may provide even more useful information about children's oral motor skills. WHAT THIS PAPER ADDS: What is already known on the subject Rates of DDK reflect the motor skills of the articulatory systems independently of phonological skills; therefore, the tasks are widely used in the diagnostic evaluations of speech disorders in both children and adult populations. However, a substantial number of studies have questioned the validity and usefulness of DDK rates for evaluating speech abilities. Also, the literature suggested that the measure of DDK rate alone does not provide a clear and useful indication of children's oral motor skills. DDK tasks should be analysed in terms of accuracy and consistency as well as rate. What this paper adds to the existing knowledge The literature reporting normative DDK performance has mainly been based on English speakers. As different consonants have different temporal characteristics, the linguistic and segmental features of DDK tasks can impact the DDK rate. This study established a norm for DDK rate for Korean-speaking children and investigated the developmental trajectory of DDK performance in typically developing children compared with adults. This study suggested that the comprehensive evaluation of DDK productions may provide even more useful information about children's oral motor skills by examining the characteristics of DDK productions in children with SSD. What are the potential or actual clinical implications of this work? This study provided normative data of young Korean-speaking children aged 3-9 years. Normative data in children under 5 years of age are valuable given that the majority of children referred for speech difficulty assessments are between 3 and 5 years of age, but only a few studies have provided the normative data in young children. This study showed that many children could not complete DDK tasks correctly and provided additional support for the notion that other aspects of DDK performance, including accuracy and regularity, may yield more useful diagnostic indications than timed DDK rates alone.


Assuntos
Transtorno Fonológico , Fala , Adulto , Humanos , Criança , Pré-Escolar , Transtorno Fonológico/diagnóstico , Distúrbios da Fala/diagnóstico , Idioma , Testes de Articulação da Fala , Fonética
12.
Am J Speech Lang Pathol ; 32(4): 1501-1516, 2023 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-37195639

RESUMO

PURPOSE: Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide a comprehensive description of articulation, resonance, and voice in children with Pompe disease. METHOD: Fifteen children with Pompe disease (11 with infantile-onset Pompe disease [IOPD], four with late-onset Pompe disease [LOPD]) ranging from 6 to 18 years of age participated in standard speech assessments. Measures included maximum tongue pressure; nasalance; cepstral peak prominence (CPP); low/high ratio (L/H ratio); diadochokinetic (DDK) rates; percent consonants correct (PCC); and visual analog scale (VAS) ratings of articulation, resonance, voice quality, and overall speech severity. Maximum tongue pressures, nasalance, CPP, L/H ratio, DDK rates, and PCC were compared to normative data from typically developing (TD) children. Correlation analyses and multiple regression models of speech measure predictors were conducted. RESULTS: Children with IOPD had greater speech impairment than those with LOPD. The IOPD group had lower maximum tongue pressures, slower articulation rates, lower PCC scores, higher nasalance, and higher L/H voice ratios than TD children. VAS ratings confirmed the presence of impaired articulatory precision, hypernasality, and dysphonia for most of the children with IOPD, with severity of impairment ratings ranging from mild to severe. The LOPD group had mildly elevated nasalance and L/H ratio values relative to TD children, and auditory-perceptual ratings suggested mild to no speech impairment. CONCLUSIONS: Speech disorders involving articulatory precision, resonance balance, and voice quality are common in children with Pompe disease, especially in those with IOPD. With improvements in the detection and treatment of Pompe disease, clinicians should be aware of the associated speech deficits.


Assuntos
Disfonia , Doença de Depósito de Glicogênio Tipo II , Humanos , Criança , Doença de Depósito de Glicogênio Tipo II/complicações , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Pressão , Língua , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Disfonia/diagnóstico , Medida da Produção da Fala , Acústica da Fala
13.
PLoS One ; 18(4): e0284109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37027373

RESUMO

BACKGROUND: A survey study on clinical practice not only provides insight into the implementation of knowledge, but also informs future investigations. There is a limited understanding of childhood apraxia of speech (CAS) in Cantonese speakers. This study examined the clinical practice of CAS in Hong Kong and discussed future directions of research for better evidence-based practice. METHODS: Qualified Hong Kong pediatric speech-language pathologists (SLPs) completed the online questionnaire, which had a total of 48 questions regarding their knowledge of and experience with CAS in Cantonese speakers, including assessment, diagnosis, and treatment. RESULTS: Seventy-seven responses were received from Hong Kong SLPs. Most of the SLPs (83.2%) rated their understanding of CAS as either "a little" or "fair". About half (53.2%) of the respondents had worked with children with CAS. No standardized assessment or objective/quantitative measures were used clinically. Instead, seven assessment tasks, including imitation of polysyllabic words and speech and language samples were used commonly. Perceptual judgment of clinical features is still the most popular approach for diagnosis, with a variety of lists in use. Of concern was that, in addition to using some evidence-based approaches, local SLPs treated CAS using approaches that have limited evidence, in the context of less treatment frequency, targeting both speech and language skills within the same session, and with only partial implementation of the approaches. CONCLUSIONS: The results suggest that the understanding of CAS among local SLPs requires attention. One reason for this is that evidence regarding the assessment, diagnosis, and treatment of Cantonese speakers with CAS is still limited. Future investigations are needed.


Assuntos
Apraxias , Patologia da Fala e Linguagem , Humanos , Criança , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia , Fala , Hong Kong , Patologia da Fala e Linguagem/métodos , Apraxias/diagnóstico , Apraxias/terapia , Inquéritos e Questionários , Internet
15.
PLoS One ; 18(4): e0284667, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37099544

RESUMO

Medical diagnostic methods that utilise modalities of patient symptoms such as speech are increasingly being used for initial diagnostic purposes and monitoring disease state progression. Speech disorders are particularly prevalent in neurological degenerative diseases such as Parkinson's disease, the focus of the study undertaken in this work. We will demonstrate state-of-the-art statistical time-series methods that combine elements of statistical time series modelling and signal processing with modern machine learning methods based on Gaussian process models to develop methods to accurately detect a core symptom of speech disorder in individuals who have Parkinson's disease. We will show that the proposed methods out-perform standard best practices of speech diagnostics in detecting ataxic speech disorders, and we will focus the study, particularly on a detailed analysis of a well regarded Parkinson's data speech study publicly available making all our results reproducible. The methodology developed is based on a specialised technique not widely adopted in medical statistics that found great success in other domains such as signal processing, seismology, speech analysis and ecology. In this work, we will present this method from a statistical perspective and generalise it to a stochastic model, which will be used to design a test for speech disorders when applied to speech time series signals. As such, this work is making contributions both of a practical and statistical methodological nature.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Distúrbios da Fala/diagnóstico , Fala , Processamento de Sinais Assistido por Computador , Aprendizado de Máquina , Progressão da Doença , Ataxia
16.
J Speech Lang Hear Res ; 66(4): 1240-1251, 2023 04 12.
Artigo em Inglês | MEDLINE | ID: mdl-36917782

RESUMO

PURPOSE: During motor speech examinations for suspected apraxia of speech (AOS), clients are routinely asked to repeat words several times sequentially. The purpose of this study was to understand the task in terms of the relationship among consecutive attempts. We asked to what extent phonemic accuracy changes across trials and whether the change is predicted by AOS diagnosis and sound production severity. METHOD: One hundred thirty-three participants were assigned to four diagnostic groups based on quantitative metrics (aphasia plus AOS, aphasia-only, and aphasia with two borderline speech profiles). Each participant produced four multisyllabic words 5 times consecutively. These productions were audio-recorded and transcribed phonetically and then summarized as the proportion of target phonemes that was produced accurately. Nonparametric statistics were used to analyze percent change in accuracy from the first to the last production based on diagnostic group and a broad measure of speech sound accuracy. RESULTS: Accuracy on the repeated words deteriorated across trials for all groups, showing reduced accuracy from the first to the last repetition for 62% of participants. Although diagnostic groups differed on the broad measure of speech sound accuracy, severity classification based on this measure did not determine degree of deterioration on the repeated words task. DISCUSSION: Responding to a request to say multisyllabic words 5 times sequentially is challenging for people with aphasia with and without AOS, and as such, performance is prone to errors even with mild impairment. For most, the task does not encourage self-correction. Instead, it promotes errors, regardless of diagnosis, and is, therefore, useful for screening purposes.


Assuntos
Afasia , Apraxias , Humanos , Fala , Medida da Produção da Fala , Distúrbios da Fala/diagnóstico , Afasia/diagnóstico , Apraxias/diagnóstico
17.
J Alzheimers Dis ; 92(4): 1257-1267, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36872780

RESUMO

BACKGROUND: Visual impairment could worsen sleep/wake disorders and cognitive decline. OBJECTIVE: To examine interrelations among self-reported visual impairment, sleep, and cognitive decline in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Miami-site. METHOD: HCHS/SOL Miami-site participants ages 45-74 years (n = 665) at Visit-1, who returned for cognitive test 7-years later (SOL-INCA). Participants completed the National Eye Institute Visual Functioning Questionnaire (NEI-VFQ), validated sleep questionnaires and test for obstructive sleep apnea (OSA) at Visit-1. We obtained verbal episodic learning and memory, verbal fluency, processing speed, and executive functioning at Visit-1 and at SOL-INCA. Processing speed/executive functioning were added to SOL-INCA. We examined global cognition and change using a regression-based reliable change index, adjusting for the time lapse between Visit-1 and SOL-INCA. We used regression models to test whether 1) persons with OSA, self-reported sleep duration, insomnia, and sleepiness have an increased risk for visual impairment, 2a) visual impairment is associated with worse cognitive function and/or decline, and 2b) sleep disorders attenuate these associations. RESULT: Sleepiness (ß= 0.04; p < 0.01) and insomnia (ß= 0.04; p < 0.001) were cross-sectionally associated with visual impairment, adjusting for sociodemographic characteristics, behavioral factors, acculturation, and health conditions. Visual impairment was associated with lower global cognitive function at Visit-1 (ß= -0.16; p < 0.001) and on average 7-years later (ß= -0.18; p < 0.001). Visual impairment was also associated with a change in verbal fluency (ß= -0.17; p < 0.01). OSA, self-reported sleep duration, insomnia, and sleepiness did not attenuate any of the associations. CONCLUSION: Self-reported visual impairment was independently associated with worse cognitive function and decline.


Assuntos
Disfunção Cognitiva , Hispânico ou Latino , Apneia Obstrutiva do Sono , Distúrbios do Início e da Manutenção do Sono , Transtornos da Visão , Idoso , Humanos , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etnologia , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/psicologia , Hispânico ou Latino/psicologia , Autorrelato , Sono , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/etnologia , Apneia Obstrutiva do Sono/psicologia , Distúrbios do Início e da Manutenção do Sono/complicações , Distúrbios do Início e da Manutenção do Sono/diagnóstico , Distúrbios do Início e da Manutenção do Sono/etnologia , Distúrbios do Início e da Manutenção do Sono/psicologia , Sonolência , Transtornos da Visão/complicações , Transtornos da Visão/diagnóstico , Transtornos da Visão/etnologia , Transtornos da Visão/psicologia , Pessoa de Meia-Idade , Duração do Sono , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etnologia , Distúrbios da Fala/etiologia , Distúrbios da Fala/psicologia
18.
Clin Neurophysiol ; 149: 42-50, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36893498

RESUMO

OBJECTIVE: We studied the relationship between oscillatory activity in the subthalamic nucleus (STN) and speech production in order to better understand the functional role of the STN. METHODS: We simultaneously recorded subthalamic local field potentials and audio recordings from 5 patients with Parkinson's disease while they performed verbal fluency tasks. We then analyzed the oscillatory signals present in the subthalamic nucleus during these tasks. RESULTS: We report that normal speech leads to a suppression of subthalamic alpha and beta power. Contrarily, a patient with motor blocks during speech initiation showed a low beta power increase. We also report an increase in error rates in the phonemic non-alternating verbal fluency task during deep brain stimulation (DBS). CONCLUSIONS: We confirm previous findings that intact speech leads to desynchronization in the beta range in the STN. The speech related narrowband beta power increase in a patient with speech problems suggests that exaggerated synchronization in this frequency band is associated with motor blocks during speech initiation. The increased number of errors in verbal fluency tasks during DBS might be caused by an impairment of the response inhibition network caused by stimulation of the STN. SIGNIFICANCE: We suggest that the inability to attenuate beta activity during motor processes is associated with motor freezing across motor behaviours such as speech and gait, as previously shown for freezing of gait.


Assuntos
Estimulação Encefálica Profunda , Transtornos Neurológicos da Marcha , Doença de Parkinson , Humanos , Fala/fisiologia , Estimulação Encefálica Profunda/efeitos adversos , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia
19.
J Speech Lang Hear Res ; 66(3): 791-803, 2023 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-36795544

RESUMO

PURPOSE: The purpose of this study was to investigate comorbidity prevalence and patterns in childhood apraxia of speech (CAS) and their relationship to severity. METHOD: In this retroactive cross-sectional study, medical records for 375 children with CAS (M age = 4;9 [years;months], SD = 2;9) were examined for comorbid conditions. The total number of comorbid conditions and the number of communication-related comorbidities were regressed on CAS severity as rated by speech-language pathologists during diagnosis. The relationship between CAS severity and the presence of four common comorbid conditions was also examined using ordinal or multinomial regressions. RESULTS: Overall, 83 children were classified with mild CAS; 35, with moderate CAS; and 257, with severe CAS. Only one child had no comorbidities. The average number of comorbid conditions was 8.4 (SD = 3.4), and the average number of communication-related comorbidities was 5.6 (SD = 2.2). Over 95% of children had comorbid expressive language impairment. Children with comorbid intellectual disability (78.1%), receptive language impairment (72.5%), and nonspeech apraxia (37.3%; including limb, nonspeech oromotor, and oculomotor apraxia) were significantly more likely to have severe CAS than children without these comorbidities. However, children with comorbid autism spectrum disorder (33.6%) were no more likely to have severe CAS than children without autism. CONCLUSIONS: Comorbidity appears to be the rule, rather than the exception, for children with CAS. Comorbid intellectual disability, receptive language impairment, and nonspeech apraxia confer additional risk for more severe forms of CAS. Findings are limited by being from a convenience sample of participants but inform future models of comorbidity. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22096622.


Assuntos
Apraxias , Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Pré-Escolar , Fala , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/diagnóstico , Estudos Retrospectivos , Estudos Transversais , Transtorno do Espectro Autista/epidemiologia , Apraxias/epidemiologia , Apraxias/diagnóstico , Comorbidade , Transtornos do Desenvolvimento da Linguagem/diagnóstico
20.
Am J Speech Lang Pathol ; 32(4S): 1912-1922, 2023 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-36827527

RESUMO

PURPOSE: This exploratory study aimed to characterize motor speech impairments in a small sample of children with epilepsy, both with and without a known seizure etiology. A secondary aim was to evaluate the validity of the Profile for Childhood Apraxia of speech and Dysarthria (ProCAD), a newly developed tool for differential diagnosis of childhood apraxia of speech and dysarthria. METHOD: Thirteen children with seizure disorders completed a comprehensive speech and language assessment. Three expert speech-language pathologists rated the presence of auditory-perceptual features of motor speech impairment using the ProCAD. Motor speech features, diagnoses, and standardized test scores were compared between children with a known seizure etiology and children with idiopathic epilepsy. RESULTS: Nine of the 13 children exhibited motor speech impairment; dysarthria was the most common diagnosis. Most children (11/13) exhibited language impairment. Group comparisons showed that children with a known seizure etiology had more atypical motor speech features and lower language scores than children with idiopathic seizures. CONCLUSION: These preliminary findings suggest a high rate of motor speech impairment among children with epilepsy.


Assuntos
Apraxias , Epilepsia , Criança , Humanos , Disartria/etiologia , Disartria/complicações , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Apraxias/diagnóstico , Epilepsia/diagnóstico , Epilepsia/complicações , Fenótipo , Convulsões/complicações
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