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Description
Concussion, a subset of mild traumatic brain injury (mTBI), has recently been brought to the forefront of the media due to a large lawsuit filed against the National Football League. Concussion resulting from injury varies in severity, duration, and type, based on many characteristics about the individual that research does not presently understand. Chronic fatigue, poor working memory, impaired self-awareness, and lack of attention to task are symptoms commonly present post-concussion. Currently, there is not a standard method of assessing concussion, nor is there a way to track an individual's recovery, resulting in misguided treatment for better prognosis. The aim of the following study was to determine patient specific higher-order cognitive processing deficits for clinical diagnosis and prognosis of concussion. Six individuals (N=6) were seen during the acute phase of concussion, two of whom were seen subsequently when their symptoms were deemed clinically resolved. Subjective information was collected from both the patient and from neurology testing. Each individual completed a task, in which they were presented with degraded speech, taxing their higher-order cognitive processing. Patient specific behavioral patterns are noted, creating a unique paradigm for mapping subjective and objective data for each patient's strategy to compensate for deficits and understand speech in a difficult listening situation. Keywords: concussion, cognitive processing
ContributorsBerg, Dena (Author) / Liss, Julie M (Committee member) / Azuma, Tamiko (Committee member) / Caviness, John (Committee member) / Arizona State University (Publisher)
Created2013
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. 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
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 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