A thesis submitted to the Faculty of Science, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree of Doctor of Philosophy. Johannesburg, 2015. / FOXP2 is the gene product of the so-called “language gene” and is the only protein known to be involved in a monogenetic autosomally inherited language disorder. This disorder has been termed Speech-Language Disorder 1. In addition to the role it plays in language, FOXP2 is thought to be involved in cancer, autism and schizophrenia. FOXP2 is a member of the P subfamily of FOX transcription factors, the DNA-binding domain of which is the forkhead domain. The aim of this work was to investigate the binding mechanism of the FOXP2 forkhead domain and various DNA sequences in order to assess affinity and specificity. It was shown by surface plasmon resonance that the FOXP2 forkhead domain can recognise a variety of DNA sequences, including a novel sequence, identified by systematic evolution of ligands by exponential enrichment. This motif has not previously been reported as a binding motif of the FOXP2 forkhead domain. Kinetic analysis by surface plasmon resonance showed that the novel sequence, as well as other published cognate sequences, each binds to the FOXP2 forkhead domain with different rates and affinities. Molecular docking of the DNA sequences to the FOXP2 forkhead domain revealed that electrostatic interactions between positively charged amino acids and the DNA backbone, as well as basespecific interactions between His554 and the DNA appear to be key in determining rates and affinities of binding interactions of the FOXP2 forkhead domain and DNA. Based on these findings, three types of DNA-binding are proposed for the FOXP2 forkhead domain. These types are: low affinity, nonfunctional binding; moderate affinity, non-functional binding and high affinity, functional binding. It is probable that each type of binding serves to control the vii spatial location of the protein within the nucleus, as well as the local concentration of protein. The proposed mechanism of binding for the forkhead domain of FOXP2 may have a future impact on the binding and function of full length FOXP2.

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Thesis (M.Ed.)--University of Hong Kong, 1992. / Includes bibliographical references (leaf 63-70). Also available in print.

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Darbe atlikta teorinė savęs vertinimo sampratos ir vaikų, turinčių kalbos sutrikimų, psichosocialinių poreikių (saviraiškos, bendravimo, emocijų raiškos) tenkinimo kaip optimalaus savęs vertinimo ugdymosi prielaidos analizė. Nustatyta, kad vaikų, turinčių kalbos sutrikimų, savęs vertinimas gali būti neadekvatus, o dailės terapija, inicijuojanti šių vaikų saviraišką, gali padėti ugdyti(s) ir kelti savęs vertinimą. Iškelta hipotezė, kad dailės terapija yra veiksminga vaikų, turinčių kalbos sutrikimų, savęs vertinimui ugdyti(s). Atliktas veiklos tyrimas, kurio tikslas- atskleisti dailės terapijos veiksmingumą vaikų, turinčių kalbos sutrikimų, savęs vertinimui. Tyrime dalyvavo septyni paruošiamosios mokyklai grupės, vidutinį ir žymų kalbos neišsivystymą turintys vaikai. / Heoretical analysis of the concept of self-esteem and meeting of psychosocial needs (self-expression, communication, expression of emotions) of children having speech disorders, as the presupposition of optimal self-esteem has been performed in the research work. It has been identified that self-esteem of children having speech disorders may be inadequate, and art therapy initiating self-expression of these children may help in self-education and increase their self-esteem. The hypothesis has been raised that art therapy is efficient in developing self-esteem of pupils having speech disorders. Activity research the aim of which is to reveal the efficiency of art therapy on the self-esteem of pupils having speech disorders has been performed. Seven pre-school group children having moderate and severe speech underdevelopment participated in the research.

Šiame bakalauro darbe analizuojami daugiakalbėje aplinkoje gyvenančių mokinių kalbos sutrikimai ir sunkumai. Tyrime dalyvavo 51 pradinių klasių mokytojas, 17 lietuvių kalbos mokytojų, dirbančių 5-8 -ose klasėse ir keturi, mokyklose dirbantys logopedai. Anketinės apklausos metodu ištirti daugiakalbėje aplinkoje gyvenančių mokinių kalbos sunkumai ir sutrikimai. Norint, kad atsakymai būtų išsamesni ir požiūris į nagrinėjamą reiškinį tikslesnis, buvo pasirinktas interviu metodas, kuriuo apklausti logopedai. Analizuojant tyrimo duomenis buvo derinami kiekybiniai ir kokybiniai metodai. Atlikta statistinė duomenų analizė, ji papildyta logopedų pasisakymais, iliustruota mokytojų pateiktais pavyzdžiais ir mokinių rašto darbų pavyzdžiais. Tyrimu nustatyta, kad daugiakalbė aplinka turi įtakos ir kartais neigiamos vaikų kalbos raidai. Dauguma apklausoje dalyvavusių respondentų nurodė, kad dėl kalbų interferencijos mokiniai, gyvenantys daugiakalbėje aplinkoje, gana dažnai turi kalbos sunkumų. Jų kalba gramatiškai netaisyklinga, kalboje vartojami kelių kalbų žodžiai, netaisyklingas kirčiavimas, ypatingai dažnos ilgųjų ir trumpųjų balsių bei dvibalsių painiojimo klaidos (i-y; u- ū; uo-o; e, ė, ie). Tai sukelia skaitymo ir rašymo sunkumų. Respondentų nuomone, rašymo problemos žymiai didesnės ir dažnesnės. Kalbos sutrikimų daugiakalbė aplinka nelemia. Ji gali būti tik viena iš įtariamo kalbos sutrikimo priežasčių, bet ne pagrindinė. Pedagogai pagal galimybes padeda mokiniams turintiems... [toliau žr. visą tekstą] / This paper analyses speech disorders and difficulties of students from multilingual environment. The subject of the study was 51 primary school teachers, 17 teachers of the Lithuanian language who teach 5th – 8th formers and 4 speech therapists who work at school. Speech disorders and difficulties of students from multilingual environment have been identified using the method of questionnaire. Speech therapists have been interviewed in order to receive comprehensive responses and precise attitude towards this phenomenon. Quantitative and qualitative methods have been combined analysing the data of the research. The statistical analysis of the data includes the remarks of speech therapists, pictorial teachers’ and students’ written work samples. The study states that multilingual environment can sometimes have a negative influence on children’s speech development. Most respondents pointed that the students from multilingual environment have speech difficulties more often because of the language interference. Their speech is wrong grammatically. Moreover, they use in their speech words from different languages, put the stress incorrectly, mispronounce long and short vowels and diphthongs (i-y; u-ū; uo-o; e, ė, ie). It causes difficulties in reading and writing. The respondents think that writing difficulties occur more often. The multilingual environment does not determine disorders. It can only be one of the reasons of speech disorders but not... [to full text]

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Introdução: A articulação da fala é um dos aspectos fonoaudiológicos mais comprometidos na doença de Parkinson (DP). Pacientes com DP apresentam risco de manifestar apraxia não verbal e verbal. A apraxia não verbal ocorre quando há um déficit na habilidade de sequencialização dos movimentos voluntários não verbais da língua, lábios, mandíbula e outras estruturas orofaciais associadas, e a apraxia verbal é definida como um déficit na habilidade de sequencializar os controles motores necessários para o posicionamento correto dos articuladores durante a produção voluntária da fala. A prevalência com que apraxia da fala ocorre na DP não está bem estabelecida, sendo um distúrbio pouco explorado nesses pacientes. É um estudo inédito, até onde temos conhecimento, quanto à identificação dos erros práxicos verbais na DP. Objetivo: avaliar a prevalência da praxia não verbal e verbal em pacientes com doença de Parkinson, correlacionandoas com idade, escolaridade, tempo de doença e estadiamento da DP (Hoehn e Yahr), assim como correlacionar a apraxia não verbal com a apraxia verbal e identificar os erros práxicos verbais. Método: Estudo quantitativo, observacional, descritivo e de prevalência. Foram avaliados 45 pacientes acometidos pela DP, que realizaram seguimento clínico no ambulatório de Distúrbios do Movimento do Hospital de Clínicas de Porto Alegre, Brasil, através da aplicação do Protocolo de Avaliação da Apraxia da Fala, e o estadiamento da DP foi controlado através da escala de Hoehn e Yahr (H&Y). Resultados: A prevalência de apraxia não verbal e verbal nos pacientes com DP foi de 24,4%. Não houve significância entre apraxia não verbal com idade, escolaridade, tempo de doença, estadiamento da DP (H&Y) e gênero. A correlação entre apraxia verbal e escolaridade foi significante (p≤0,05), mas não houve significância com idade, tempo de doença, estadiamento da DP (H&Y) e gênero. Os tipos de erros práxicos verbais mais frequentes foram as omissões (70,8%). Quanto ao ponto e modo articulatório os fonemas mais alterados foram os dentoalveolares (92%) e os vibrantes (57,7%), consecutivamente. Conclusão: Os pacientes com DP apresentaram apraxia não verbal e verbal com manifestação de muitos erros práxicos verbais, estando a apraxia verbal correlacionada com a escolaridade. / Introduction: The speech articulation is one of the aspects most impaired in Parkinson's disease (PD). Patients PD present risk of expressing nonverbal and verbal apraxia. The nonverbal apraxia occurs when there is a deficit in the sequencing ability of nonverbal voluntary movements of the tongue, lips, jaw and other associated orofacial structures, while the verbal apraxia is defined as a deficit in the ability of sequencing the necessary motor controls in order to place the articulators correctly during the voluntary speech production. The predominance with which apraxia of speech occurs in PD is not well established and rarely explored in these patients. As far as we know, it is an unprecedented study regarding the identification of verbal praxic errors in PD. Objective: To assess the prevalence of nonverbal and verbal apraxia in patients with Parkinson's disease, correlating them with age, education, duration of disease and PD stage (Hoehn e Yahr), as well as to correlate nonverbal with verbal apraxia and identify the verbal praxic errors. Method: Quantitative, observational, descriptive and prevalence study. Forty-five patients with PD were evaluated. They were submitted to the clinical follow-up in the Movement Disorders Clinic of the Cinical Hospital of Porto Alegre, Brazil, through the application of the Speech Apraxia Assessment Protocol. Additionally, the PD stage was controlled through the Hoehn and Yahr scale (H&Y). Results: The prevalence of nonverbal and verbal apraxia in patients with PD was 24.4%. There was no significance between the nonverbal apraxia with age, education, duration of disease, PD stage (H&Y), and genre. The correlation between verbal apraxia and education was significant (p ≤ 0.05), but there was no significance with age, duration of disease, PD stage (H&Y) and genre. Omissions were the most frequent kinds of verbal praxic errors with (70.8 percent). Regarding the place and mode of articulation, the most changed phonemes were the dentoalveolar (92%)and the vibrants (57.7%), consecutively. Conclusion: Patients with PD presented nonverbal and verbal apraxia with manifestation of many verbal praxic errors and verbal apraxia correlated with education levels.

Introdução: A articulação da fala é um dos aspectos fonoaudiológicos mais comprometidos na doença de Parkinson (DP). Pacientes com DP apresentam risco de manifestar apraxia não verbal e verbal. A apraxia não verbal ocorre quando há um déficit na habilidade de sequencialização dos movimentos voluntários não verbais da língua, lábios, mandíbula e outras estruturas orofaciais associadas, e a apraxia verbal é definida como um déficit na habilidade de sequencializar os controles motores necessários para o posicionamento correto dos articuladores durante a produção voluntária da fala. A prevalência com que apraxia da fala ocorre na DP não está bem estabelecida, sendo um distúrbio pouco explorado nesses pacientes. É um estudo inédito, até onde temos conhecimento, quanto à identificação dos erros práxicos verbais na DP. Objetivo: avaliar a prevalência da praxia não verbal e verbal em pacientes com doença de Parkinson, correlacionandoas com idade, escolaridade, tempo de doença e estadiamento da DP (Hoehn e Yahr), assim como correlacionar a apraxia não verbal com a apraxia verbal e identificar os erros práxicos verbais. Método: Estudo quantitativo, observacional, descritivo e de prevalência. Foram avaliados 45 pacientes acometidos pela DP, que realizaram seguimento clínico no ambulatório de Distúrbios do Movimento do Hospital de Clínicas de Porto Alegre, Brasil, através da aplicação do Protocolo de Avaliação da Apraxia da Fala, e o estadiamento da DP foi controlado através da escala de Hoehn e Yahr (H&Y). Resultados: A prevalência de apraxia não verbal e verbal nos pacientes com DP foi de 24,4%. Não houve significância entre apraxia não verbal com idade, escolaridade, tempo de doença, estadiamento da DP (H&Y) e gênero. A correlação entre apraxia verbal e escolaridade foi significante (p≤0,05), mas não houve significância com idade, tempo de doença, estadiamento da DP (H&Y) e gênero. Os tipos de erros práxicos verbais mais frequentes foram as omissões (70,8%). Quanto ao ponto e modo articulatório os fonemas mais alterados foram os dentoalveolares (92%) e os vibrantes (57,7%), consecutivamente. Conclusão: Os pacientes com DP apresentaram apraxia não verbal e verbal com manifestação de muitos erros práxicos verbais, estando a apraxia verbal correlacionada com a escolaridade. / Introduction: The speech articulation is one of the aspects most impaired in Parkinson's disease (PD). Patients PD present risk of expressing nonverbal and verbal apraxia. The nonverbal apraxia occurs when there is a deficit in the sequencing ability of nonverbal voluntary movements of the tongue, lips, jaw and other associated orofacial structures, while the verbal apraxia is defined as a deficit in the ability of sequencing the necessary motor controls in order to place the articulators correctly during the voluntary speech production. The predominance with which apraxia of speech occurs in PD is not well established and rarely explored in these patients. As far as we know, it is an unprecedented study regarding the identification of verbal praxic errors in PD. Objective: To assess the prevalence of nonverbal and verbal apraxia in patients with Parkinson's disease, correlating them with age, education, duration of disease and PD stage (Hoehn e Yahr), as well as to correlate nonverbal with verbal apraxia and identify the verbal praxic errors. Method: Quantitative, observational, descriptive and prevalence study. Forty-five patients with PD were evaluated. They were submitted to the clinical follow-up in the Movement Disorders Clinic of the Cinical Hospital of Porto Alegre, Brazil, through the application of the Speech Apraxia Assessment Protocol. Additionally, the PD stage was controlled through the Hoehn and Yahr scale (H&Y). Results: The prevalence of nonverbal and verbal apraxia in patients with PD was 24.4%. There was no significance between the nonverbal apraxia with age, education, duration of disease, PD stage (H&Y), and genre. The correlation between verbal apraxia and education was significant (p ≤ 0.05), but there was no significance with age, duration of disease, PD stage (H&Y) and genre. Omissions were the most frequent kinds of verbal praxic errors with (70.8 percent). Regarding the place and mode of articulation, the most changed phonemes were the dentoalveolar (92%)and the vibrants (57.7%), consecutively. Conclusion: Patients with PD presented nonverbal and verbal apraxia with manifestation of many verbal praxic errors and verbal apraxia correlated with education levels.