Language is integrally involved in all stages of the learning process. Children who have a language disability are therefore likely to have difficulty with their schooling. The Centre for Language and Hearing Impaired Children was established to provide these children with an optimal start to their education and to maximize the impact of early intervention. The aim of this retrospective study was to obtain follow-up information about the pupils who attended this language-rich nursery school environment, and to discover if their progress reflected significant long-term improvements in their education. The study design involved both quantitative aspects, for which it became necessary to create an educational outcome scoring system in order to objectively assess children’s outcomes, and descriptive components to understand the children’s progress. The data collection involved two phases, where the initial data provided the basic demographics of 94 children who attended the Centre, and the second stage considered information obtained in the follow-up interviews with 32 families that could be traced. The latter data showed that, in spite of previously reported improvements while at the Centre, significant disabilities persisted in 56.25 % of the children, where they were unable to reach mainstream education. In addition, there were significant numbers (81.25%) that attended or passed through remedial/special education during their formal school career, reinforcing the need for supportive, therapeutic forms of education for children with language impairments.

Cytoplasmic dynein is a retrograde motor protein complex that carries cargo such as organelles and growth factors along microtubules from the cell periphery towards the peri-nuclear region. The cytoplasmic dynein complex is centred around two homodimerised heavy chains, within which multiple mutations have been identified in human neurological diseases. The ‘Legs at odd angles' (Loa) mouse has a missense ‘T' to ‘A' point mutation in the cytoplasmic dynein heavy chain gene (Dync1h1), resulting in a phenylalanine to tyrosine substitution at position 580. Mice homozygous for this mutation die within 24 hours of birth whilst heterozygote's manifest an age-related and progressive neurodegeneration. Fixed and live-cell microscopy shows aberrant movement of endocytosed growth factors in Loa. Retrograde speed is reduced with a distinct lack of the fastest moving carriers. Moreover, the overall pattern of movement is altered with increased anterograde and side-steps occurring in Loa. Impaired endosomal trafficking of growth factors for degradation prolongs the activation of extracellular signal related kinases 1 and 2 (ERK 1/2) and increases the expression of the immediate early gene c-Fos in mouse embryonic fibroblasts. Motor neurons also show increased levels c-Fos however this can be induced by starvation, indicating their enhanced susceptibility to stress. The light chain (KLC) of dynein's opposing motor - kinesin is one of many genes differentially expressed in Loa compared to wild-type. In addition, associations of KLC with the dynein complex is altered in Loa. Similarities between human neurological diseases and Loa both at the organism and cellular level make Loa a valuable tool towards understanding cellular mechanisms fundamental to the process of disease. Through understanding comes advancement towards therapeutic targets to improve the lives of thousands of people worldwide.

DNA single-strand breaks (SSB) are the most commonly occurring type of DNA damage arising in a cell and they are repaired by rapid repair pathways collectively termed single-strand break repair (SSBR). Recently several rare hereditary neurodegenerative disorders with mutations in genes associated with SSBR, spinocerebellar ataxia and axonal neuropathy-1 (SCAN1), ataxia oculomotor apraxia-1 (AOA1) and microcephaly with early onset seizures and developmental delay (MCSZ), have been discovered. A striking aspect that these disorders have in common is that they are all caused by mutations in end-processing factors. The majority of SSBs that arise via endogenous damage have ‘dirty' termini and require end-processing to restore DNA ends with conventional ‘ligatable' chemistry. Another common feature of these end-processing enzymes is their association with XRCC1, a scaffolding protein that is a core component of SSBR. Complete loss of XRCC1 is embryonically lethal and the conditional deletion of XRCC1 in the developing mouse brain leads to persistent DNA damage, cerebellar interneurons loss and abnormal hippocampal function resulting in behavioural abnormalities such as seizures and episodic epilepsy. Taken together these observations suggest that neural cells are exquisitely sensitive to defects in chromosomal SSBR. In my thesis, I will describe biochemical and cellular data on lymphoblastoid and fibroblast cell lines derived from patients with mutations in the end-processing factors aprataxin (APTX is mutated in AOA1). I will include data showing that aprataxin is required for the short-patch SSBR of abortive ligation intermediates in vitro and that repair arrests in AOA1 cell lines due to insufficient levels of non-adenylated DNA ligase.

Introdução: Indivíduos com fissura labiopalatina podem apresentar alterações de fala específicas decorrentes da disfunção velofaríngea. Objetivo: Elaborar um intrumento para predizer o fechamento velofaríngeo (FVF), baseado na combinação dos sintomas de fala decorrentes da disfunção velofaríngea, aferidas na avaliação perceptivo-auditiva da fala e sua correspondência com a medida objetiva da dimensão do orifício velofaríngeo. Material e Método: Participaram deste estudo, 78 pacientes, com fissura de palato operada, com idade entre 6 e 45 anos. Os pacientes foram submetidos à avaliação aerodinâmica da fala por meio da técnica fluxo-pressão para classificação do FVF (medida da área velofaríngea) e à gravação audiovisual de amostra de fala. As amostras de fala foram editadas e analisadas por três fonoaudiólogas para classificação dos sintomas: hipernasalidade, emissão de ar nasal audível, classificação da competência velofaríngea, turbulência nasal, fraca pressão consonantal, sintomas ativos-articulação compensatória e mímica facial. A correlação entre as características perceptivas da fala e a classificação do FVF foi feita utilizando-se o coeficiente de correlação de Spearman. Foram desenvolvidos dois modelos estatísticos (discriminante e exploratório) a fim de predizer a classificação do FVF. Os testes de sensibilidade e especificidade foram aplicados a fim de se verificar a aplicabilidade clínica dos modelos. Resultados: Verificou-se forte correlação entre todos os sintomas de fala e a classificação do FVF. Ambos os modelos mostraram 88,7% de acertos ao predizer o FVF. A sensibilidade e especificidade para o modelo discriminante foi de 92,3% e 97,2%, respectivamente e de, 96,2% e 94,4% para o modelo exploratório, respectivamente. Conclusão: Foram desenvolvidas e apresentadas dois instrumentos para predizer o FVF a partir dos sintomas perceptivos da fala e a sua correspondência com o fechamento velofaríngeo determinado pela avaliação objetiva. Acredita-se que tais ferramentas contribuirão para o diagnóstico da disfunção velofaríngea na prática clínica. / Introduction: Individuals with cleft lip and palate may present specific speech disorders due to velopharyngeal dysfunction. Objective: To develop a tool in order to predict velopharyngeal closure (VFC), based on the combination of speech symptoms of velopharyngeal dysfunction, assessed in the auditory-perceptual evaluation and its correspondence with the instrumental measurement of velopharyngeal orifice size. Methods: Seventy eight patients with repaired cleft palate, aged 6 to 45 years, participated in this study. The patients undergone aerodynamic evaluation by means of pressure-flow technique to determine velopharyngeal closure (velopharyngeal orifice area) and audiovisual recording of speech samples. The samples were edited and analyzed by three speech-language pathologists for rating the symptoms: hypernasality, audible nasal air emission, velopharyngeal competence rating, nasal turbulence, weak pressure consonant, active symptoms (compensatory articulation error) and facial grimacing. Correlation between the perceptual speech characteristics and the velopharyngeal closure was performed by Spearman\'s correlation coefficient. Two statistical models (discriminant and exploratory) were developed to predict the VFC. The sensitivity and specificity tests were performed in order to verify the clinical applicability of the models. Results: There was a strong correlation between all speech symptoms and VFC. Both models showed 88.7% of accuracy on predicting VFC. The sensitivity and specificity for the discriminant model were 92.3% and 97.2%, respectively, and 96.2% and 94.4% for the exploratory model, respectively. Conclusion: In the present study two tools were developed and presented to predict VFC based on speech symptoms and its correspondence with the velopharyngeal closure determined by the objective evaluation. Both tools may contribute to the diagnosis of velopharyngeal dysfunction in clinical practice.

Speech Disorders Resource Guide for Preschool Children provides detailed information about assessment, analysis and intervention methods pertaining to childhood speech disorders. Also covers intervention outcomes and treatment efficacy. A concise, easy-to-use format makes it an ideal clinical resource tool for students and clinicians. / https://dc.etsu.edu/etsu_books/1181/thumbnail.jpg

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The ICF-CY framework from the WHO provides a holistic perspective in considering the impact of a SSD on children. Child interviews and drawings will be examined from children in the U.S. and Brazil to determine if there are cultural differences related to the experience of a SSD.

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abstract: Speech intelligibility measures how much a speaker can be understood by a listener. Traditional measures of intelligibility, such as word accuracy, are not sufficient to reveal the reasons of intelligibility degradation. This dissertation investigates the underlying sources of intelligibility degradations from both perspectives of the speaker and the listener. Segmental phoneme errors and suprasegmental lexical boundary errors are developed to reveal the perceptual strategies of the listener. A comprehensive set of automated acoustic measures are developed to quantify variations in the acoustic signal from three perceptual aspects, including articulation, prosody, and vocal quality. The developed measures have been validated on a dysarthric speech dataset with various severity degrees. Multiple regression analysis is employed to show the developed measures could predict perceptual ratings reliably. The relationship between the acoustic measures and the listening errors is investigated to show the interaction between speech production and perception. The hypothesize is that the segmental phoneme errors are mainly caused by the imprecise articulation, while the sprasegmental lexical boundary errors are due to the unreliable phonemic information as well as the abnormal rhythm and prosody patterns. To test the hypothesis, within-speaker variations are simulated in different speaking modes. Significant changes have been detected in both the acoustic signals and the listening errors. Results of the regression analysis support the hypothesis by showing that changes in the articulation-related acoustic features are important in predicting changes in listening phoneme errors, while changes in both of the articulation- and prosody-related features are important in predicting changes in lexical boundary errors. Moreover, significant correlation has been achieved in the cross-validation experiment, which indicates that it is possible to predict intelligibility variations from acoustic signal. / Dissertation/Thesis / Doctoral Dissertation Speech and Hearing Science 2019

The questions posed in this study were: l) Is there a significant difference in the prevalence of behavioral problems between speech and/or language impaired children and normal children as reported by parents and teachers? and 2) Is there a significant difference in the types of behavioral problems between speech and/or language impaired children and normal children, as reported by parents and teachers?