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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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A single subject, diagnosed as having severe oral apraxia and dysarthria, participated in an eight-week research experiment designed to study the effects of singing on speech articulation. A simultaneous treatment design was used in which the subject participated in both the e xperimental and control conditions. In the control condition spoken words were repeated by the subject, while in the experimental condition the words were sung. The words used were the lyrics to two popular folk songs. Articulatory accuracy (intelligibility) was judged by two graduate level speech therapists, based on audiotape samples of the subject's responses, recorded on a "Language Master" machine. Judges were also asked to rate their degree of confidence about their judgements. Results indicated significantly higher scores at the .05 level for the singing condition than for the non-singing condition. Degree of confidence ratings were similar for both conditions. It was also observed that a significantly greater number of consonant blends were correctly articulated in the singing condition than in the nonsinging condition.

Recently, there have appeared in the literature treatment approaches for the disorder of developmental apraxia of speech in children. These treatment approaches make use of the visual modality, and specifically use reading stimulus materials to improve articulation skills. Several authors have endorsed this use of reading materials in the treatment of developmental apraxia of speech in children including: Morley (1965); Rosenthal (1971); Rosenbek and Wertz (1972); and Rosenbek et al. (1974). These treatment approaches have been offered via the literature without the benefit of empirical verification that children with DAS will make fewer articulation errors while reading aloud than they would speaking spontaneously. The primary purpose of this investigation was to provide empirical support for the treatment approaches to DAS in children which make use of reading stimuli to improve the articulation performance of these children. A secondary purpose was to present a possible treatment approach through the increasing of oral reading speed in children with DAS.

Purpose: This study primarily investigates the effects and influence of frustration in children with childhood apraxia of speech (CAS) in the setting of intensive treatment. Additionally, the study examines the interrater reliability of the frustration rating scale used in an intensive CAS treatment study. Methods: Frustration and treatment data obtained from 17 participants (between 4;0-9;11 years) with CAS in an intensive treatment research study were retrospectively used to determine potential relationships related to frustration in treatment (target complexity, temporal conditions, session number, CAS severity). Interrater reliability of the frustration rating scale was assessed with 34 randomly selected treatment session videos scored by a blinded second rater and compared to original scores. Results: Interrater reliability of the scale was poor to fair but had relatively close agreement within one scale point. Frustration levels were observed to decrease over the course of the treatment period but were typically greater in the afternoon sessions compared to morning. Participants in the complex target treatment condition with lower frustration also exhibited better outcomes than those with greater frustration. No other relationships were observed. Conclusions: Due to relatively poor interrater reliability of frustration scoring system used to obtain data used in the current study, results of the study should be interpreted cautiously. There may be a relationship between frustration levels in children with CAS and treatment conditions and outcomes, but other factors may influence both variables and further investigation into frustration is necessary to draw stronger conclusions. / Public Health

Childhood apraxia of speech (CAS) is a motor-based disorder that often results in long-term communication challenges, as well as adverse academic and psychosocial consequences. Response to CAS treatment is variable, with some children achieving slow or limited progress. A better understanding of factors associated with treatment response is needed to generate accurate prognoses and guide future development of efficient, targeted treatments. This dissertation research includes two studies. Study 1 examined speech perception skills among children with CAS using a discrimination (AX) task and a mispronunciation detection (MPD) task. Study 2 examined the association between four individual-level characteristics—age, speech accuracy, inconsistency, and perception—and CAS treatment response. Participants included 27 children (Study 2; subset of 12 children for Study 1) involved in an ongoing clinical trial for CAS (i.e., the “parent trial;” ClinicalTrials.gov ID = NCT03903120). Research questions were addressed using nonparametric correlation and t-tests, as well as multivariable linear regression. Results from Study 1 indicated that speech perception ability (1) did not differ by task, (2) did not differ by consonant and vowel conditions, (3) was positively correlated with age and speech accuracy, and negatively associated with speech inconsistency and nonverbal cognition, and (4) did not change after integral stimulation treatment. Results from Study 2 indicated that speech perception ability was the sole significant predictor of CAS treatment response, such that children with better perceptual skills at baseline made greater treatment gains. Further research is needed to replicate and extend these findings. / Communication Sciences

The intent of this thesis is to explore and develop the quantification of AOS features, particularly the deficits of prosodic elements, lexical stress and duration. This study investigated whether PVI can be used as a sensitive tool for the differential diagnosis of AOS. Specifically, we sought to determine whether analysis of vowel length of stressed and unstressed syllables is helpful in differentiating between individuals with AOS and aphasia versus aphasia alone. Significant differences support the hypothesis that PVI, analyzed from vowel length, is uniquely affected in AOS. This yields reason for further research in prosodic deficits in differential diagnosis, as well as application of this theory for a speech-language pathologist.

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