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Apraxia of speech (AOS) is a motor speech disorder associated with an impairment in motor planning and programming. It is therefore a logical step to derive treatment of the disorder from the principles of motor learning. Principles of motor learning refer to relatively predictable benefits of certain practice conditions over others (e.g., random practice enhances learning compared to blocked practice). A number of studies have begun to examine principles of motor learning in treatment for AOS (e.g., Austermann Hula et al., 2008; Katz et al., 2010). The current project aims to continue the investigation of motor learning principles and its application to motor speech disorders. In particular, the primary goal of this study is to examine the role of feedback control in treatment for AOS. Two types of feedback control are typically distinguished: self-controlled feedback and clinician-controlled feedback (Chiviacowsky & Wulf, 2004; Chiviacowsky & Wulf, 2007; Janelle, Barba, Frehlich, Tennant, & Cauraugh, 1997; Wulf, 2007). A secondary goal is then to examine the efficacy of script training for AOS. Youmans et al. (2011) provided promising initial evidence supporting its efficacy for AOS, yet no studies have replicated these findings (Ballard et al., 2015). The results of this study suggest that self-controlled feedback is more efficacious in treating adults with AOS than clinician-controlled feedback. Greater improvements of performance for self-controlled feedback were noted especially in accuracy of productions. There was the potential to impact rate of speech as well. Findings across conditions (treated versus untreated scripts) also indicate that script training is an efficacious method of treating adults with AOS. / Public Health

The purpose of this research effort was to examine whether the feature retention patterns and phonological knowledge of children with suspected apraxia of speech (AOSc) in comparison to those of children with phonological impairment (PI). A second purpose was to determine if a relationship exists between phonological knowledge and feature retention. The study consisted of three groups of children: PI, AOSc, and typically developing (TD), ages four to seven. A 245-item speech sample was collected from each group. Feature retention percentages and phonological knowledge, represented by percent correct underlying representations (PCUR) were calculated for each child. All groups retained place the least, followed by manner, with voicing being retained most. The null hypothesis was confirmed, with PI and AOSc groups exhibiting no significant differences across feature retention percentages or phonological knowledge. The positive correlation of voicing retention and PCUR of the AOSc group was the only significant relationship found.

A apraxia de fala na infância (AFI) representa uma desordem de origem neurológica na qual a precisão e a consistência dos movimentos de fala estão prejudicadas na ausência de déficits neuromusculares. Na literatura nacional, poucos são os estudos relacionados ao tema; além disso, chama a atenção o fato de que no Brasil a maioria dos fonoaudiólogos não tem conhecimento teórico e prático em sua formação de base sobre a AFI. O objetivo deste estudo foi elaborar um checklist para identificação dos sinais de apraxia de fala na infância em pré-escolares entre 3 e 6 anos de idade para uso de Fonoaudiólogos. Na etapa 1 do estudo foi realizada revisão da literatura internacional para levantamento das características de AFI descritas, sendo essa etapa finalizada com a elaboração das primeiras versões checklist, uma para fonoaudiólogos e uma para pais. Na etapa 2, foi realizada a análise do instrumento elaborado por um comitê de 13 fonoaudiólogos especialistas. Para estratificar a opinião dos juízes foi utilizado o Índice de Validade de Conteúdo (IVC). Ao final dessa etapa, o checklist foi reformulado e finalizado. A partir da leitura dos artigos, foram selecionadas 36 características mais prevalentes ou com maior relevância para compor a primeira versão do checklist. As características foram organizadas em 6 categorias: histórico familiar; características verbais / de fala; características motoras gerais; características orais (não-verbais); aspectos suprassegmentais de fala e características pré-linguísticas e linguísticas, e junto a cada um dos subitens foi adicionado uma breve explicação e/ou exemplo. A avaliação do checklist pelos juízes resultou em reformulações quanto a linguagem utilizada, inclusão de exemplos e exclusão de subitens considerados técnicos. Com relação a versão para pais, foi consenso entre eles a necessidade da utilização de uma linguagem mais simples e acessível, assim como a inclusão de maior número de exemplos. Todos os juízes consideraram o checklist uma ferramenta útil para o rastreio da AFI. Além disso, todos os subitens apresentados no checklist alcançaram IVC superior a 0,80 e o IVC-médio do instrumento de modo geral foi de 0,86, demonstrando alta confiabilidade do instrumento. O checklist apresentou, portanto, validade de conteúdo e futuras pesquisas serão realizadas com o objetivo de verificar sua aplicabilidade, validade de critério, de constructo e fidedignidade. O presente estudo atingiu seu objetivo a partir da apresentação de um checklist para identificação de sinais de AFI entre crianças de 3 a 6 anos, em duas versões, uma para pais e outra para fonoaudiólogos. / Childhood apraxia of speech (CAS) represents a disorder of neurological origin in which the precision and consistency of speech movements are impaired in the absence of neuromuscular deficits. In the national literature, there are few studies related to the subject; moreover, in Brazil most speech therapists do not have theoretical and practical knowledge in their basic training on CAS. The aim of this study was prepare a checklist for the identification of CAS signs in preschool children between 3 and 6 years old for use by speech therapists. In the first step of this study, a review of the international literature was conducted to survey the described CAS characteristics. This step was completed with the preparation of the first checklist versions, one for speech therapists and one for parents. In the second step, the analysis of the instrument elaborated by a committee of 13 specialist speech therapists was carried out. In order to stratify the opinion of the judges, the Content Validity Index (CVI) was used. At the end of this step, the checklist was reformulated and finalized. From the reading of the articles, we selected 36 more prevalent or more relevant characteristics to compose the first version of the checklist. The characteristics were organized into 6 categories: family history; verbal / speech characteristics; general motor characteristics; oral (non-verbal) characteristics; suprasegmental aspects of speech and pre-linguistic and linguistic characteristics, and a brief explanation and / or example was added to each of the subitems. The evaluation of the checklist by the judges resulted in reformulations regarding the language used, inclusion of examples and exclusion of technical subitems. Regarding the version for parents, there was consensus among them the need to use a simpler and more accessible language, as well as the inclusion of more examples. All judges considered the checklist a useful tool for CAS screening. In addition, all subitems presented in the checklist reached CVI greater than 0.80 and the mean CVI of the instrument was generally 0.86, demosntrating high instrument reliability. The checklist therefore presented content validity and future research will be carried out with the aim of verifying its applicability, criterion validity, construct and reliability. The present study reached its aim from the presentation of a checklist for identification of CAS signs among children aged 3 to 6 years, in two versions, one for parents and another for speech-language pathologists.

Das 3. Herbsttreffen Patholinguistik fand am 21. November 2009 an der Universität Potsdam statt. Der vorliegende Tagungsband enthält die drei Hauptvorträge zum Schwerpunktthema „Von der Programmierung zu Artikulation: Sprechapraxie bei Kindern und Erwachsenen“. Darüber hinaus enthält der Band die Beiträge aus dem Spektrum Patholinguistik, sowie die Abstracts der Posterpräsentationen. / The 3rd Herbsttreffen Patholinguistik was held on November 21st, 2009 at the University of Potsdam. These proceedings contain the three main lectures of the central topic „From programming to articulation: Apraxia of speech of children and adults “. Additionally this volume contains the contributions of Spektrum Patholinguistik, as well as the abstracts of the poster presentations.

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abstract: Childhood Apraxia of Speech (CAS) is a severe motor speech disorder that is difficult to diagnose as there is currently no gold-standard measurement to differentiate between CAS and other speech disorders. In the present study, we investigate underlying biomarkers associated with CAS in addition to enhanced phenotyping through behavioral testing. Cortical electrophysiological measures were utilized to investigate differences in neural activation in response to native and non-native vowel contrasts between children with CAS and typically developing peers. Genetic analysis included full exome sequencing of a child with CAS and his unaffected parents in order to uncover underlying genetic variation that may be causal to the child’s severely impaired speech and language. Enhanced phenotyping was completed through extensive behavioral testing, including speech, language, reading, spelling, phonological awareness, gross/fine motor, and oral and hand motor tasks. Results from cortical electrophysiological measures are consistent with previous evidence of a heightened neural response to non-native sounds in CAS, potentially indicating over specified phonological representations in this population. Results of exome sequencing suggest multiple genetic variations contributing to the severely affected phenotype in the child and provide further evidence of heterogeneous genomic pathways associated with CAS. Finally, results of behavioral testing demonstrate significant impairments evident across tasks in CAS, suggesting underlying sequential processing deficits in multiple domains. Overall, these results have the potential to delineate functional pathways from genetic variations to the brain to observable behavioral phenotypes and motivate the development of preventative and targeted treatment approaches. / Dissertation/Thesis / Doctoral Dissertation Speech and Hearing Science 2018

abstract: Speech sound disorders (SSDs) are the most prevalent type of communication disorder in children. Clinically, speech-language pathologists (SLPs) rely on behavioral methods for assessing and treating SSDs. Though clients typically experience improved speech outcomes as a result of therapy, there is evidence that underlying deficits may persist even in individuals who have completed treatment for surface-level speech behaviors. Advances in the field of genetics have created the opportunity to investigate the contribution of genes to human communication. Due to the heterogeneity of many communication disorders, the manner in which specific genetic changes influence neural mechanisms, and thereby behavioral phenotypes, remains largely unknown. The purpose of this study was to identify genotype-phenotype associations, along with perceptual, and motor-related biomarkers within families displaying SSDs. Five parent-child trios participated in genetic testing, and five families participated in a combination of genetic and behavioral testing to help elucidate biomarkers related to SSDs. All of the affected individuals had a history of childhood apraxia of speech (CAS) except for one family that displayed a phonological disorder. Genetic investigation yielded several genes of interest relevant for an SSD phenotype: CNTNAP2, CYFIP1, GPR56, HERC1, KIAA0556, LAMA5, LAMB1, MDGA2, MECP2, NBEA, SHANK3, TENM3, and ZNF142. All of these genes showed at least some expression in the developing brain. Gene ontology analysis yielded terms supporting a genetic influence on central nervous system development. Behavioral testing revealed evidence of a sequential processing biomarker for all individuals with CAS, with many showing deficits in sequential motor skills in addition to speech deficits. In some families, participants also showed evidence of a co-occurring perceptual processing biomarker. The family displaying a phonological phenotype showed milder sequential processing deficits compared to CAS families. Overall, this study supports the presence of a sequential processing biomarker for CAS and shows that relevant genes of interest may be influencing a CAS phenotype via sequential processing. Knowledge of these biomarkers can help strengthen precision of clinical assessment and motivate development of novel interventions for individuals with SSDs. / Dissertation/Thesis / Doctoral Dissertation Communication Disorders 2020

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