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Description
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.

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.
ContributorsVose, Caitlin (Author) / Peter, Beate (Thesis advisor) / Liu, Li (Committee member) / Brewer, Gene (Committee member) / Arizona State University (Publisher)
Created2018
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Description
22q11.2 Deletion Syndrome (22q11.2DS) is one of the most frequent chromosomal microdeletion syndromes in humans. This case study focuses on the language and reading profile of a female adult with 22q11.2 Deletion Syndrome who was undiagnosed until the age of 27 years old. To comprehensively describe the participant's profile, a

22q11.2 Deletion Syndrome (22q11.2DS) is one of the most frequent chromosomal microdeletion syndromes in humans. This case study focuses on the language and reading profile of a female adult with 22q11.2 Deletion Syndrome who was undiagnosed until the age of 27 years old. To comprehensively describe the participant's profile, a series of assessment measures was administered in the speech, language, cognition, reading, and motor domains. Understanding how 22q11.2DS has impacted the life of a recently diagnosed adult will provide insight into how to best facilitate long-term language and educational support for this population and inform future research.
ContributorsPhilp, Jennifer Lynn (Author) / Scherer, Nancy (Thesis director) / Peter, Beate (Committee member) / Department of Speech and Hearing Science (Contributor) / Sanford School of Social and Family Dynamics (Contributor) / Barrett, The Honors College (Contributor)
Created2018-05
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Description
Past studies have shown that auditory feedback plays an important role in maintaining the speech production system. Typically, speakers compensate for auditory feedback alterations when the alterations persist over time (auditory motor adaptation). Our study focused on how to increase the rate of adaptation by using different auditory feedback conditions.

Past studies have shown that auditory feedback plays an important role in maintaining the speech production system. Typically, speakers compensate for auditory feedback alterations when the alterations persist over time (auditory motor adaptation). Our study focused on how to increase the rate of adaptation by using different auditory feedback conditions. For the present study, we recruited a total of 30 participants. We examined auditory motor adaptation after participants completed three conditions: Normal speaking, noise-masked speaking, and silent reading. The normal condition was used as a control condition. In the noise-masked condition, noise was added to the auditory feedback to completely mask speech outputs. In the silent reading condition, participants were instructed to silently read target words in their heads, then read the words out loud. We found that the learning rate in the noise-masked condition was lower than that in the normal condition. In contrast, participants adapted at a faster rate after they experience the silent reading condition. Overall, this study demonstrated that adaptation rate can be modified through pre-exposing participants to different types auditory-motor manipulations.
ContributorsNavarrete, Karina (Author) / Daliri, Ayoub (Thesis director) / Peter, Beate (Committee member) / College of Health Solutions (Contributor) / Barrett, The Honors College (Contributor)
Created2019-05
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Description
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

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.
ContributorsBruce, Laurel (Author) / Peter, Beate (Thesis advisor) / Daliri, Ayoub (Committee member) / Liu, Li (Committee member) / Scherer, Nancy (Committee member) / Weinhold, Juliet (Committee member) / Arizona State University (Publisher)
Created2020