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Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials.
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Apraxias , Distúrbios da Fala , Criança , Humanos , Distúrbios da Fala/genética , Apraxias/genética , Mapeamento Cromossômico , Causalidade , Encéfalo , Histona-Lisina N-MetiltransferaseRESUMO
Primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS) are neurodegenerative syndromes characterized by progressive decline in language or speech. There is a growing number of studies investigating speech-language interventions for PPA/PPAOS. An updated systematic evaluation of the treatment evidence is warranted to inform best clinical practice and guide future treatment research. We systematically reviewed the evidence for behavioral treatment for speech and language in this population. Reviewed articles were published in peer-reviewed journals through 31 May 2021. We evaluated level of evidence, reporting quality, and risk of bias using a modified version of the American Speech-Language Hearing Association (ASHA) Levels of Evidence, an appraisal point system, additional reporting quality and internal/external validity items, and, as appropriate, the Single Case Experimental Design Scale or the Physiotherapy Evidence Database - PsycBITE Rating Scale for Randomized and Non-Randomized Controlled Trials. Results were synthesized using quantitative summaries and narrative review. A total of 103 studies reported treatment outcomes for 626 individuals with PPA; no studies used the diagnostic label PPAOS. Most studies evaluated interventions for word retrieval. The highest-quality evidence was provided by 45 experimental and quasi-experimental studies (16 controlled group studies, 29 single-subject designs). All (k = 45/45) reported improvement on a primary outcome measure; most reported generalization (k = 34/43), maintenance (k = 34/39), or social validity (k = 17/19) of treatment for at least one participant. The available evidence supports speech-language intervention for persons with PPA; however, treatment for PPAOS awaits systematic investigation. Implications and limitations of the evidence and the review are discussed.
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BACKGROUND: There is growing recognition that communication can be affected in multiple sclerosis (MS) and can negatively impact relationships, employment and psychological well-being. Some persons with MS (PwMS) implement strategies to facilitate their communication; however, some do not. Most PwMS who report communication changes do not engage with speech-language pathology (SLP) services. This raises concerns that a large portion of communication changes associated with MS go under-recognized and unmanaged. Little is known about what PwMS want and need to facilitate effective communication. AIM: To explore what PwMS want and need to better manage their communication changes. METHODS & PROCEDURES: Three focus groups were conducted online using Zoom, with a total of 12 PwMS. Participants were an opportunistic sample of PwMS within Australia recruited via advertisements distributed to various MS organizations and clinics. Data were transcribed verbatim and analysed using thematic content analysis to provide a qualitative analysis of the data. OUTCOMES & RESULTS: Two main themes emerged: (1) accessible knowledge and a holistic approach; and (2) partnerships. Specifically, the identified wants and needs of participants included: (1) assessment; (2) information; (3) raising awareness; (4) support groups; (5) a whole-person approach to intervention; (6) geographically and economically accessible and navigable services; (7) effective patient-physician interactions; and (8) a multidisciplinary team-based approach (e.g., SLP, psychology, neuropsychology, occupational therapy). CONCLUSIONS & IMPLICATIONS: This study identified a wide range of unmet wants and needs of PwMS related to communication changes. Participants wanted improved collaborative partnerships with healthcare professionals to better manage their communication changes. For example, healthcare professionals could ask PwMS about potential communication changes, provide education and make appropriate referrals. Education and information provision could focus on communication changes in MS, factors that trigger or exacerbate communication changes, impacts, self-management strategies, and available supports and services. Specific implications for clinical practice and future research are suggested in this paper, including ideas for patient education materials and content, suggestions for communication-specific screening and information that could be shared in patient-physician interactions, the development of guidelines to systematically screen, assess, manage and monitor communication changes in MS, and the design of evidence-based communication interventions for this clinical population. The results from this study can be used to guide the design of supports and services to help PwMS better manage communication changes, with the aim to reduce the negative impacts. WHAT THIS PAPER ADDS: What is already known on this subject PwMS can experience communication changes across a range of domains, including speech, voice, fluency, expressive and receptive language, and cognitive-linguistic functions. These changes can have profound and far-reaching negative impacts on educational and vocational outcomes, social participation, relationships, psychological well-being, and quality of life. Most PwMS who report communication changes do not engage with SLP services. There has been little research exploring what PwMS want and need to help manage their communication changes. What this paper adds to the existing knowledge This research is the first study of its kind that sets out specifically to explore what PwMS want and need to better manage their communication changes. This study increases our understanding of, and provides valuable insights into, the specific types of supports and services PwMS desire to access, and the partnerships and kinds of interactions PwMS dream of having with healthcare professionals to manage these changes. This information can facilitate the development of future interventions to manage communication changes in MS. What are the potential or actual clinical implications of this work? PwMS wanted healthcare professionals to ask about potential communication changes, provide education and make appropriate referrals. When providing education and information on communication changes in MS, healthcare professionals should focus on covering symptoms, triggers, impacts, self-management strategies, and available supports and services. There is a timely need to develop guidelines and interventions to manage communication changes in MS to reduce their negative impacts.
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Esclerose Múltipla , Comunicação , Grupos Focais , Pessoal de Saúde/psicologia , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/terapia , Qualidade de VidaRESUMO
This letter is a response to the Letter to the Editor by Ghaemi et al. (2020), in which we discuss the comments made by Ghaemi et al. and conclude that, despite a minor error in wording, our systematic review provided an accurate reflection of the literature at that point in time.
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Transtornos de Deglutição , Esclerose Múltipla , Adulto , Transtornos de Deglutição/etiologia , Humanos , Esclerose Múltipla/complicaçõesRESUMO
BACKGROUND: To date, studies have not explored whether a dual diagnosis of aphasia plus apraxia of speech (AOS) versus aphasia alone (APH) affects the response to language-based naming treatments. AIMS: To compare the effects of semantic feature analysis (SFA) treatment for individuals with APH versus aphasia plus AOS, and to test if the presence of AOS impacted the effects of treatment. METHODS AND PROCEDURES: A non-randomized experimental group study was conducted to explore the treatment, generalization and maintenance effects between the AOS and APH groups. Participants included nine individuals with aphasia and 11 with concomitant aphasia and AOS. Dependent measures included lexical accuracy, number of sound-level distortions, and lexical stress and syllable segmentation errors. OUTCOMES AND RESULTS: Both groups showed significantly improved naming accuracy of trained items for up to 2 months post-treatment. Improvement on naming accuracy of untrained items post-treatment, both semantically related and unrelated to trained items, was lower in magnitude. That this may have been due to effects of repeated probing (which included target repetition) or regression to the mean cannot be excluded. There was a tendency for the AOS group to respond slightly better to treatment than the APH group overall, which was not correlated with aphasia severity. Also, measures of phonetic accuracy and fluency improved for both groups, with no main effect of group. Treatment effects did not generalize to formal measures of (untrained) picture naming or expression of correct information units in discourse in a story retelling task. CONCLUSIONS AND IMPLICATIONS: Findings indicate that individuals with aphasia plus AOS can gain equivalent benefits in word retrieval and production from the language-based SFA treatment as individuals with aphasia alone. This may be, in part, due to the tendency for SFA to incorporate principles of practice that are known to support motor learning in AOS, such as high intensity, random stimulus presentation and variable practice. Findings provide further support for high-intensity practice and use of self-generated features to facilitate maintenance of effects. What this paper adds What is already known on the subject SFA treatment is the most common intervention for word-finding difficulties for individuals with aphasia. AOS is a common concomitant disorder to aphasia. However, it is not clear whether the effects of language-based SFA treatment are mitigated by the presence of AOS, which tends to respond well to treatments focused on articulatory-kinematic aspects of speech movement. What this paper adds to the existing knowledge This study compares the effects of SFA in a group of individuals with aphasia alone and a group with similar severity of aphasia but with concomitant AOS, ranging from mild to moderate-severe. Overall, AOS did not have a negative effect on response to the treatment. What are the potential or actual clinical implications of this work? Individuals with aphasia plus AOS can be expected to benefit to a similar degree from SFA as people with aphasia alone. It is likely that the use of practice principles of high intensity, random stimulus presentation and varied practice are important components of the protocol.
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Afasia , Apraxias , Afasia/diagnóstico , Afasia/terapia , Apraxias/complicações , Apraxias/diagnóstico , Apraxias/terapia , Humanos , Terapia da Linguagem , Semântica , FalaRESUMO
BACKGROUND: Acquired brain injury (ABI), such as Parkinson's disease, dementia or stroke, can result in communication difficulties that lead to an impoverished ability to connect meaningfully with others. Choral singing is a complex task that uses multiple brain regions which are also responsible for language and communication skills. The potential therapeutic effects of group singing on communication-related outcomes across ABI aetiologies have not been systematically reviewed. AIMS: To examine whether participation in group singing over multiple sessions improves speech, voice, language and/or communication skills in individuals with ABI-related communication disorders. METHODS & PROCEDURES: A database search was undertaken according to the PRISMA guidelines. Search terms included: stroke OR Parkinson* OR dementia OR 'acquired brain injury' AND choir OR choral OR singing OR sing OR 'choral sing* ' OR group adj3 singing OR community adj3 singing AND speech OR language OR communication. MAIN CONTRIBUTION: A total of 11 studies were included. Nine were quantitative, including one randomized and one non-randomized control trial, and two were mixed method. Nine studies were scored as level IV (uncontrolled) on the American Academy of Neurology (AAN) Classification of Evidence Matrix and two as level III (e.g., lack of blinded assessors). Eight examined speech and voice skills in Parkinson's disease, two functional communication skills in post-stroke aphasia and one communication between individuals with dementia and a significant other. One level III control trials provided evidence for a therapeutic effect of group singing on communication in individuals with Parkinson's disease. CONCLUSIONS & IMPLICATIONS: Currently, there is only one study providing support for using group singing to improve speech and voice skills in people with Parkinson's disease, and no studies of adequate quality indicating positive effects on language and functional communication abilities in ABI. Further research using more rigorous experimental designs is required to determine whether group singing can influence communication skills in ABI. What this paper adds What is already known on the subject Music activates widespread, bilateral cortical and subcortical brain regions. Group singing is increasingly understood to have positive benefits on quality of life and health-related well-being in both healthy and clinical populations. Given the crossover in neural networks between singing, speech and language, singing activities are also thought to have positive effect of communication impairments secondary to ABI. However, to date, the research evidence supporting the application of group singing for communication impairments in ABI has not been summarized. What this paper adds to existing knowledge A total of 11 studies have looked at communication outcomes after group singing in ABI. For most of these, the quality of evidence was low (AAN level IV). It also highlights that there is a bias in the literature towards the studying individuals with Parkinson's disease (i.e., nine of the 11 studies). What are the potential or actual clinical implications of this work? This review concludes that, currently, there is emerging evidence to support positive effects of a group singing for speech and voice symptoms in individuals with Parkinson's disease, when provided using the Tamplin protocol. However, there is not yet any evidence for communication benefits for individuals with aphasia or dementia.
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Arteterapia/métodos , Lesões Encefálicas/complicações , Transtornos da Comunicação/reabilitação , Musicoterapia/métodos , Canto , Transtornos da Comunicação/etiologia , Humanos , Resultado do TratamentoRESUMO
OBJECTIVE: The 10-item Dysphagia in Multiple Sclerosis (DYMUS) questionnaire is a self-administered tool used to identify swallowing problems in adults with MS. The questionnaire was not validated against other existing questionnaires to assess its convergent validity. Moreover, its test-retest reliability was not measured previously. Therefore, the purpose of this study was to assess the factor analysis, internal consistency and test-retest reliability of the DYMUS, as well as its convergent validity against an established and validated questionnaire, the EAT-10. METHOD: English-speaking adults with MS in New South Wales, Australia who were seen for routine medical check-ups were invited to complete two questionnaires across two phases. One hundred participants completed phase 1, while 55 completed phase 2. Statistical analyses were performed to investigate the psychometric properties of the DYMUS questionnaire. RESULTS: Internal consistency (Cronbach's Alpha) reduced the DYMUS questionnaire from ten to five items. The shortened version of the DYMUS showed high internal consistency (alpha = 0.904). It also showed satisfactory reproducibility, and adequate correlation with the 10-item Eating Assessment Tool (EAT-10). CONCLUSION: Evaluation of the DYMUS resulted in a shortened version of the questionnaire with five questions related to dysphagia. This shortened version is considered an easy and useful tool in identifying patients with MS-related dysphagia.
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Transtornos de Deglutição/etiologia , Esclerose Múltipla/complicações , Inquéritos e Questionários/normas , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria/normas , Qualidade de Vida , Reprodutibilidade dos Testes , Adulto JovemRESUMO
Lexical stress is the contrast between strong and weak syllables within words. Ballard et al. (2012) examined the amount of stress contrastivity across adjacent syllables in word productions of typically developing three- to seven-year-olds and adults. Here, eight- to eleven-year-olds are compared with the adults from Ballard et al. using acoustic measurements of relative contrast in duration, peak intensity, and peak fundamental frequency of the vowels within the initial two syllables of each word. While eight- to eleven-year-olds are closer to adult-like stress contrastivity than three- to seven-year-olds, they are not yet adult-like in terms of the intensity contrast for words beginning with a weak syllable.
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Desenvolvimento da Linguagem , Fonética , Acústica da Fala , Comportamento Verbal , Austrália , Criança , Feminino , Humanos , Masculino , Inteligibilidade da Fala , Percepção da Fala , Medida da Produção da Fala , VocabulárioRESUMO
Dysphagia or swallowing difficulties have been reported to be a concern in adults with multiple sclerosis (MS). This problem can result in several complications including aspiration pneumonia, reduced quality of life and an increase in mortality rate. No previous systematic reviews on treatment effects for dysphagia in MS have been published. The main objective of this study is to summarise and qualitatively analyse published studies on treatment effects for dysphagia in MS. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were applied to conduct a systematic search of seven databases, using relevant key words, and subsequent analysis of the identified studies. The studies were required to meet all three inclusion criteria of including a statement on intention to treat, or measure the effects of treatment for dysphagia in adults with MS and data on treatment outcomes for at least one adult diagnosed with MS. Retained studies were evaluated by two independent reviewers using a critical appraisal tool. This study has not been registered. A total of 563 studies were identified from the database searches. After screening and assessment of full articles for eligibility, five studies were included in the review. Three examined electrical stimulation and two examined the use of botulinum toxin. One study testing electrical stimulation was a randomised controlled trial, two were well-designed case series and two were case series lacking experimental control. All studies reported some positive effects on dysphagia; however, treatments that involved the use of electrical stimulation showed larger effect sizes. There is a paucity of evidence to guide treatment of dysphagia in MS, with only electrical stimulation and botulinum toxin treatment represented in the literature search conducted here. While both treatments show initial promise for reducing the swallowing impairment, they require further research using well-controlled experimental designs to determine their clinical applicability and long-term treatment effects for dysphagia across different types and severity of MS.
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Toxinas Botulínicas/uso terapêutico , Transtornos de Deglutição/terapia , Terapia por Estimulação Elétrica/métodos , Esclerose Múltipla/complicações , Neurotoxinas/uso terapêutico , Adulto , Deglutição/fisiologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: Rapid Syllable Transitions (ReST) treatment uses pseudo-word targets with varying lexical stress to target simultaneously articulation, prosodic accuracy and coarticulatory transitions in childhood apraxia of speech (CAS). The treatment is efficacious for the acquisition of imitated pseudo-words, and generalization of skill to untreated pseudo-words and real words. Despite the growing popularity of telehealth as a method of service delivery, there is no research into the efficacy of telehealth treatments for CAS. Telehealth service delivery is associated with compromised audio and visual signal transmission that may affect the efficacy of treatment. AIMS: To conduct a phase 1 efficacy study of telehealth delivery of ReST treatment for CAS, and to discuss the efficacy with reference to face-to-face ReST treatment. METHODS & PROCEDURES: Using a multiple baseline across participants design, five children aged 5-11 years with CAS received ReST treatment four times a week for 3 weeks via video conferencing with Adobe Connect. The children's ability to imitate new pseudo-words, generalize the skills to untreated pseudo-words and real word items, and maintain the skills following treatment were assessed. Both visual and statistical analyses were utilized. OUTCOMES & RESULTS: All five children significantly improved with their production of the imitated treated pseudo-word items and significantly generalized to similar untreated pseudo-words and real words. Additionally, two of the children showed significant generalization to imitated phrases with the treatment items. Four of the children maintained their treatment gains up to 4 months post-treatment. Telehealth delivery produced similar acquisition of pseudo-words and generalization to untreated behaviours as face-to-face delivery; however, in the 4 months following treatment, the children showed stable rather than improving speech skills. The intra- and inter-judge reliability was similar in telehealth delivery for face-to-face delivery. Caregivers and clinicians were satisfied with the telehealth treatment. CONCLUSIONS & IMPLICATIONS: This phase 1 study provides promising indications of the efficacy of ReST treatment when delivered four times per week via telehealth, and warrants further large-scale investigation.
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Apraxias/terapia , Fonoterapia , Telemedicina , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , FalaRESUMO
The Lombard effect describes the phenomenon of individuals increasing their vocal intensity when speaking in the presence of background noise. Here, we conducted an investigation of the production of lexical stress during Lombard speech. Participants (N = 27) produced the same sentences in three conditions: one quiet condition and two noise conditions at 70 dB (white noise; multi-talker babble). Manual acoustic analyses (syllable duration, vowel intensity, and vowel fundamental frequency) were completed for repeated productions of two trisyllabic words with opposing patterns of lexical stress (weak-strong; strong-weak) in each of the three conditions. In total, 324 productions were analysed (12 utterances per participant). Results revealed that, rather than increasing vocal intensity equally across syllables, participants alter the degree of stress contrastivity when speaking in noise. This was especially evident in the production of strong-weak lexical stress where there was an increase in contrastivity across syllables in terms of intensity and fundamental frequency. This preliminary study paves the way for further research that is needed to establish these findings using a larger set of multisyllabic stimuli.
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Percepção Sonora , Ruído/efeitos adversos , Fonética , Acústica da Fala , Percepção da Fala , Qualidade da Voz , Adolescente , Audiometria de Tons Puros , Limiar Auditivo , Feminino , Humanos , Masculino , Espectrografia do Som , Inteligibilidade da Fala , Medida da Produção da Fala , Fatores de Tempo , Adulto JovemRESUMO
This article introduces the Journal of Speech, Language, and Hearing Research Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge. A second aim of this prologue is to report the current research needs in CAS, which arose from symposium discussions involving researchers, clinicians, and Apraxia Kids community members (including parents of children with CAS). Four primary areas of need emerged from discussions at the symposium. These were: (a) What questions should we ask? (b) Who should be in the research? (c) How do we conduct the research? and (d) How do we move from research to practice? Across themes, symposium attendees emphasized the need for CAS research to better account for the diversity of people with CAS and improve the timeliness of implementation of high-level evidence-based practice across the lifespan. It is our goal that the articles and prologue discussion in this special issue provide an appreciation of advancements in CAS research and an updated view of the most pressing needs for future research.
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PURPOSE: This is a pilot study to apply an articulatory kinematic speech intervention that uses the principles of motor learning (PML) to improve speech and resonance outcomes for children with cleft palate. It is hypothesized that (a) treatment that applies select PML during practice will improve production of treated phonemes, representing both active and inconsistent passive errors, at word level in children with cleft palate; (b) effects of practice on phonemes with active or inconsistent passive errors will generalize to untreated exemplars of treated phonemes; and (c) learning will be retained for at least 1-month posttreatment. METHOD: A multiple-baseline design across participants combined with a crossover single-case experimental model was used. Participants attended two 8-week blocks of twice-weekly face-to-face speech therapy (40-50 min/treatment) to treat active and inconsistent passive cleft speech errors using articulatory kinematic speech intervention that applied PML. The participants were four children with cleft-type speech errors. The primary dependent variable measured was percentage of words correct across treatment items, generalization items, and control items. Perceptual accuracy of target words was scored. Effect sizes were calculated to quantify the magnitude of treatment effect. RESULTS: For three children with active and inconsistent passive cleft speech errors and one child with active cleft speech errors and developmental phonological speech errors, this approach resulted in improvements to their treated items and generalization to their untreated items. Inconsistent passive cleft speech errors were particularly responsive to the treatment in the three children who presented with these errors. CONCLUSION: This Phase I study has shown that articulatory kinematic speech intervention that applies the PML is effective in improving the speech outcomes for children with cleft palate and that there is validity in pursuing further research into this approach. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21644831.
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Fissura Palatina , Criança , Humanos , Fissura Palatina/complicações , Fala , Projetos Piloto , Fonética , Medida da Produção da FalaRESUMO
PURPOSE: To evaluate the effect, usage, and user-experience for SayBananas!, a Mario-style mobile game providing Australian children access to high-dose individualised speech therapy practice. METHOD: Participants were 45 rural Australian children with speech sound disorders (SSD; 4;4-10;5 years) with internet access. This mixed-methods study involved: (a) recruitment, (b) eligibility screening, (c) questionnaire, (d) online pre-assessment, (e) SayBananas! intervention using motor learning principles (4 weeks, 10-15 target words), and (f) online post-assessment and interview. Usage and performance were automatically monitored. RESULT: Most participants were highly engaged with SayBananas! completing a median of 44.71 trials/session (â¼45% of the 100 trial/session target, range 7-194). After intervention, participants made significant gains on treated words and on formal assessment of percentage of consonants, vowels, and phonemes correct. There was no reliable change for parent-rated intelligibility or children's feelings about talking. The number of practice sessions was significantly correlated with percent change on treated words. On average, children rated the app as "happy/good/fun" providing detailed drawings of playing SayBananas!. Families provided high ratings of engagement, functionality, aesthetics, and quality. CONCLUSION: SayBananas! is a viable and engaging solution for rural Australian children with SSD to gain access to equitable, cost-effective speech practice. The amount of app use was associated with amount of speech production improvement over a 4-week period.
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Aplicativos Móveis , Transtorno Fonológico , Jogos de Vídeo , Humanos , Criança , Fala , Austrália , Medida da Produção da Fala , Transtorno Fonológico/diagnósticoRESUMO
BACKGROUND: Individuals living in residential aged care facilities with cognitive decline are at risk of social isolation and decreased wellbeing. These risks may be exacerbated by decline in communication skills. There is growing awareness that group singing may improve sense of wellbeing for individuals with dementia. However, to date few studies have examined broader rehabilitative effects on skills such as communication of individuals with dementia. AIMS: To determine the feasibility and acceptability of the MuSic to Connect (MuSiCON) choir and language/communication assessment protocol in people with cognitive impairment living in non-high-care wards of a residential facility. METHODS: Six individuals with mild-moderate cognitive impairment participated (age range 55-91 years, five female, one male). A mixed method approach was used. Quantitative outcomes included attendance rates, quality of life and communication measures. The qualitative measure was a brief survey of experience completed by participants and carers post-intervention. RESULTS: Overall, MuSiCON was perceived as positive and beneficial, with high attendance, perception of improved daily functioning and high therapeutic benefit without harmful effects. While there was no reliable change in communication skills over the course of the six-week intervention, most participants successfully engaged in the conversational task, suggesting it is a suitable and ecologically valid method for data collection. CONCLUSIONS: The MuSiCON protocol demonstrated feasibility and was well received by participants and staff at the residential facility. A co-design approach is recommended to improve upon feasibility, acceptability and validity of the assessment protocol prior to Phase II testing.
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Disfunção Cognitiva , Demência , Música , Idoso , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Qualidade de Vida , Estudos de Viabilidade , Inquéritos e Questionários , Demência/psicologia , Ensaios Clínicos Fase I como AssuntoRESUMO
Primary progressive aphasia comprises a heterogeneous group of neurodegenerative conditions with diverse clinical profiles and underlying pathological substrates. A major development has been the publication of the recent International Consensus Criteria for the three major variants namely: semantic, non-fluent/agrammatic and logopenic. The logopenic variant is assumed to represent an atypical presentation of Alzheimer pathology although evidence for this is, at present, limited. The semantic and non-fluent/agrammatic variants are largely associated with frontotemporal lobar degeneration with TDP-43 and tau pathology, respectively. The applicability of the International Consensus Criteria to an unselected clinical sample is unknown and no agreed clinical evaluation scale on which to derive the diagnosis exists. We assessed 47 consecutive cases of primary progressive aphasic seen over a 3-year period in a specialist centre, using a newly developed progressive aphasia language scale. A subgroup of 30 cases underwent (11)C-labelled Pittsburgh Compound B positron emission tomography imaging, a putative biomarker of Alzheimer's disease that detects ß-amyloid accumulation, and they were compared with an age-matched group (n = 10) with typical, predominately amnestic Alzheimer's disease. The application of an algorithm based on four key speech and language variables (motor speech disorders, agrammatism, single-word comprehension and sentence repetition) classified 45 of 47 (96%) of patients and showed high concordance with the gold standard expert clinical diagnosis based on the International Consensus Criteria. The level of neocortical ß-amyloid burden varied considerably across aphasic variants. Of 13 logopenic patients, 12 (92%) had positive ß-amyloid uptake. In contrast, one of nine (11%) semantic variant and two of eight (25%) non-fluent/agrammatic cases were positive. The distribution of ß-amyloid across cortical regions of interest was identical in cases with the logopenic variant to that of patients with typical Alzheimer's disease although the total load was lower in the aphasic cases. Impairments of sentence repetition and sentence comprehension were positively correlated with neocortical burden of ß-amyloid, whereas impaired single-word comprehension showed a negative correlation. The International Consensus Criteria can be applied to the majority of cases with primary progressive aphasic using a simple speech and language assessment scale based upon four key variables. ß-amyloid imaging confirms the higher rate of Alzheimer pathology in the logopenic variant and, in turn, the low rates in the other two variants. The study offers insight into the biological basis of clinical manifestations of Alzheimer's disease, which appear topographically independent of ß-amyloid load.
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Doença de Alzheimer/diagnóstico por imagem , Peptídeos beta-Amiloides/metabolismo , Afasia/classificação , Encéfalo/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/metabolismo , Afasia/diagnóstico por imagem , Afasia/metabolismo , Encéfalo/metabolismo , Feminino , Humanos , Testes de Linguagem , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Tomografia por Emissão de Pósitrons , FalaRESUMO
BACKGROUND: Childhood Apraxia of Speech is an impairment of speech motor planning that manifests as difficulty producing the sounds (articulation) and melody (prosody) of speech. These difficulties may persist through life and are detrimental to academic, social, and vocational development. A number of published single subject and case series studies of speech treatments are available. There are currently no randomised control trials or other well designed group trials available to guide clinical practice. METHODS/DESIGN: A parallel group, fixed size randomised control trial will be conducted in Sydney, Australia to determine the efficacy of two treatments for Childhood Apraxia of Speech: 1) Rapid Syllable Transition Treatment and the 2) Nuffield Dyspraxia Programme - Third edition. Eligible children will be English speaking, aged 4-12 years with a diagnosis of suspected CAS, normal or adjusted hearing and vision, and no comprehension difficulties or other developmental diagnoses. At least 20 children will be randomised to receive one of the two treatments in parallel. Treatments will be delivered by trained and supervised speech pathology clinicians using operationalised manuals. Treatment will be administered in 1-hour sessions, 4 times per week for 3 weeks. The primary outcomes are speech sound and prosodic accuracy on a customised 292 item probe and the Diagnostic Evaluation of Articulation and Phonology inconsistency subtest administered prior to treatment and 1 week, 1 month and 4 months post-treatment. All post assessments will be completed by blinded assessors. Our hypotheses are: 1) treatment effects at 1 week post will be similar for both treatments, 2) maintenance of treatment effects at 1 and 4 months post will be greater for Rapid Syllable Transition Treatment than Nuffield Dyspraxia Programme treatment, and 3) generalisation of treatment effects to untrained related speech behaviours will be greater for Rapid Syllable Transition Treatment than Nuffield Dyspraxia Programme treatment. This protocol was approved by the Human Research Ethics Committee, University of Sydney (#12924). DISCUSSION: This will be the first randomised control trial to test treatment for CAS. It will be valuable for clinical decision-making and providing evidence-based services for children with CAS. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry: ACTRN12612000744853.
Assuntos
Apraxias/terapia , Distúrbios da Fala/terapia , Fonoterapia/métodos , Análise de Variância , Criança , Pré-Escolar , Protocolos Clínicos , Humanos , Resultado do TratamentoRESUMO
PURPOSE: There is mounting evidence that the agrammatism that defines Broca's aphasia can be explained in processing terms. However, the extant approach simply describes agrammatism as disparate deficits in a static, mature system. This tutorial aims to motivate and outline a developmental alternative. This alternative is processability theory (PT), a root-to-apex theory of language development, with its origins in the field of second language acquisition, which can connect the findings of aphasia research. METHOD: This tutorial critically reviews research on agrammatism as a language deficit, a representational deficit, and a processing phenomenon. Given evidence from research applying PT to language disorders, this tutorial outlines PT's multidimensional architecture of language processing. Using an emergence (onset) criterion, PT predicts fixed developmental stages in word order (syntax) and inflection (morphology) and individual differences in the timing of syntax and morphology. To link PT to agrammatism, this theory's applications to diagnosis and teaching are overviewed, and a case study of five individuals with moderate agrammatism is presented. RESULTS: Analysis showed that all individuals were positioned in the early PT stages and differed in their timing of syntax and morphology consistent with theoretical predictions. CONCLUSIONS: Evidence from the case study suggests that, although agrammatism results from neural damage and associated language loss, the processing procedures necessary for relearning remain and can be exploited for recovery. A program of diagnosis and intervention is proposed, and future research directions are discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.19416488.
Assuntos
Afasia de Broca , Transtornos da Linguagem , Afasia de Broca/diagnóstico , Afasia de Broca/terapia , Humanos , IdiomaRESUMO
Purpose: Individuals with stroke-related apraxia of speech (AOS) plus aphasia tend to produce more speech errors with increasing word length. The Words of Increasing Length task (WIL) uses a 3-point scale to score word accuracy but penalises for error types that can arise either from language or motor impairment, reducing the test's sensitivity and specificity. The purpose here was to identify error types explaining variance in the WIL score, and those associated with AOS and word length.Method: Speech errors were perceptually identified on the WIL task for 51 Australian English-speaking adults with stroke-related aphasia, 25 with concomitant AOS. Multiple regression and linear mixed effects modelling were applied.Result: Variance in WIL scores was best explained with four error types: consonant additions, incorrect number of syllables, false starts and consonant substitutions/distortions. False starts were significantly associated with AOS diagnosis. Incorrect number of syllables, consonant omissions, false starts, and lexical stress errors increased in frequency for longer words and, while the interaction with diagnosis did not reach significance, the effect appeared driven by the AOS group.Conclusion: Findings provide further support for using polysyllabic word production to assess apraxic speech. The WIL task has limitations that may bias patients' performance and clinicians' perceptual evaluation. Data provide valuable information for designing a more sensitive diagnostic protocol for AOS.