Undergraduate honors paper--Mount Holyoke College, 2006. Dept. of Psychology and Education. / Text also included on accompanying CD-ROM. Includes bibliographical references (leaves 86-89).

Williams syndrome (WS) is a genetic disorder that results in a wide variety of impairments, involving most of the areas of development. Although significant variability has been found among children with Williams syndrome in terms of the phenotype, the idea of a typical WS profile is still predominant in the literature. However, the clinically observed widespread differences have caused clinicians to often speak about partial deletions, atypical deletions or inconclusive cases. In addition, some researchers have put forward the notion that the size of the deleted area might have an influence in both quantitative and qualitative aspects of the phenotypical characteristics. This thesis explores the differences in cognitive ability and attainment of developmental milestones in children with WS. Four experimental studies have been conducted involving a total number of 74 children between the ages of few months to the age of 18 years. Study 1 investigated the effect of deletion size in the cognitive ability of WS children, as this was measured by 4 different IQ tests. Study 2 examined the effect of deletion size in the attainment of developmental milestones, Study 3 examined the longitudinal course of IQ in children with WS and Study 4 examined a clinically observed de novo phenomenon of a strong leftward bias affecting attention and short term visuospatial memory. Studies 1 and 2 demonstrated an effect of deletion size on the cognitive abilities of children with WS. The greater the deletion size in the 7qll.23 area, the lower the performance on measures of cognitive ability and the longer and more problematic the attainment of developmental milestones. Study 3 indicated that there is a significant increase in the IQ scores of children with the typical deletion. The IQ scores remain however to the mild/moderate retardation - low average area of the IQ scale. Study 4 examined and tried to offer explanatory ideas in a de novo clinically observed phenomenon of a leftward bias affecting attention and visuospatial short term memory. Children with WS encountered great difficulty in detecting and remembering the position of items presented to the right side of a presentation matrix. These findings suggest that deletion size has an influence on both performance on measures of cognitive ability and attainment of developmental milestones, the cognitive ability of children with WS significantly improves with advance of chronological age and that there is a leftwards bias affecting attention and short term visuospatial memory.

What little work has been done in the past on the life of Sir Charles Hanbury Williams has been only marginally concerned with his literary activities. These deserve notice, however, because of the consistent way in which his works were used as political propoganda, and his willingness to change their political contents for reasons of political expediency. In bibliographical notes it is occasionally stated that the oeuvre of Sir Charles Hanbury Williams as presented in the only fairly comprehensive edition of his works, published in 1822, is unreliable. Commentators have very seldom attempted to be more specific than that, however. The aim of this thesis is to separate the incorrect from the correct attributions, and, where external evidence is lacking, to indicate whether certain works can be considered as likely or unlikely attributions on the basis of their political contents. The search for the context within which the works of Sir Charles Hanbury Williams were written has involved the study of how literature was used for political purposes in the years following the fall of Sir Robert Walpole. This thesis is therefore partially concerned with the nature of political parties in the mid-eighteenth century which has engaged the attention of so many modern historians of the period.

This thesis is basically a study of William Carlos Williams' Paterson, with emphasis on Book Five, the final completed book of the poem. Because Williams is repeatedly concerned with the Unicorn tapestries in Book Five, much attention is given to them, and the rest of Book Five is seen as complementary to this central metaphor. And because this metaphor is a restriction to the essentials, or what Williams calls "by multiplication a reduction to one," the thesis is largely involved in interpreting the implications of this metaphor, developed and determined by the context of the rest of the poem. Previously, most critics have either treated Paterson V as a postscript to Paterson I-IV, or have dismissed the book by stating in general terms that Williams in Book Five takes Paterson into the realm of the Imagination. In either case, a detailed analysis of Book Five has been avoided. This thesis attempts such an analysis, in order to reveal that Paterson V is not a postscript to the rest of the poem, but its culmination. Though Book Five is in a sense in a different realm from the first four books, the transition from the realm of life to that of art is not only foreshadowed by the former books, but is also the means of solution to the Paterson dilemma, struggled with and developed in Paterson I-IV, but never crystallized. This occurs in Book Five, where the Unicorn tapestries are the metaphoric "hub" of the crystallization. Though the dilemma involves both Paterson the man and city, it is mostly concerned with Paterson the poet, and his manifestation, the poem Paterson. Hence the dilemma is to a large extent autobiographical. Paterson's problem is Williams' problem: the necessity of transforming the poet's life quest, with all its implications, into a culminatory work of art. To this basic problem must be added several crucial obstacles. The first is that of approaching death. By the end of Book Four, Paterson has reached the end of his life course. Williams, in the year of Book Four's publication, has had several crippling strokes. In other words, Williams' life, like Paterson's, may soon be terminated, and thus the work of art may never be created. Secondly, Williams' work of art must include the processes of art and life, as well as their products. Without process, the product will stagnate, and without product, the process will remain a confused delirium. In this sense, Book Five becomes the product of the processes involved in Paterson I-IV, the product that clarifies both the poet's quest and his poetics, saves both Williams and Paterson from meaningless death, and gives the poet impetus to continue his craft. Intrinsic to the union of process and product is the union of life with literature, the poetic with the anti-poetic, and the Dionysian aspect of creation with that of the Apollonian. In Paterson, these turn out to be the "inter-penetrating realities" that the poet seeks to unite throughout the poem. The following analysis attempts to reveal how the union does symbolically or metaphorically occur, how the various disparate forces in the poem become embodied in a complex but harmonious whole, and why this union, as portrayed in the Unicorn tapestries, does succeed, where similar earlier attempts had failed / Arts, Faculty of / English, Department of / Graduate

This thesis seeks to identify the philosophical arguments behind William Carlos Williams' constant attack upon accepted patterns of thought, behaviour and art. The first chapter outlines Williams' belief in the necessity of a continual process of renewal in order to prevent traditional approaches to experience from decaying individual perception into unconscious habits of preconception. The thesis then debates the possibility and value of pure perception in contrast to preconception, of objectivity in contrast to subjectivity, of the need for artistic impartiality to prevent biassed perception. This line of inquiry develops into a discussion of Williams' doctrine of change as essential to clear perception: Williams' advocation of the new, of the perception of present, local reality is a struggle against the traditional habitual concentration upon the past, the foreign and upon future abstractions. By Chapter Four, the thesis has evolved into a detailed inspection of the poetic techniques necessary for the clarifying expression of a continually renewed awareness. An attempt is made to show how poetry must change to keep reflecting a changing reality that is perceived now as a world of process rather than as a static and definable quantity. Underlying the whole thesis is the central interpretation that Williams' objection to established doctrines is a rejection of that tradition of man's egotistical aloofness from the ground and of his urge to control nature by destruction which has alienated him from his consciousness of his environment and from his source of. self-discovery. The second half of the thesis tries to reveal the poem Paterson as the assimilation of Williams' organic philosophy in a poetic form whose construction releases beauty from its abstraction in the mind into a living sentient experience. The thesis evolves towards an attempt to reveal Williams' call for man to rediscover a primal awareness of himself through an interpenetration with nature, a sympathetic appreciation of and yielding to the unopposed objects of his environment. The method of approach used is apocalyptic, rather than purely analytical. / Arts, Faculty of / English, Department of / Graduate

The thesis is, that the dance, as metaphor and as ordering function, is central to an understanding of William Carlos Williams' poetry and of his activity as poet. The first chapter, which is a ground for what follows, begins with a close examination of "The Rose" from Spring and All as a demonstration of some of Williams' basic principles concerning the act of making the poem. My emphasis is on what one can observe happening in the poem itself, the poem as enactment or dance. I then proceed to examine the prose passages from Spring and All as statement of those principles, in order to establish the meaning of some terms, imitation, engagement, imagination, as Williams uses them "both as theory in the prose descriptions and as actuality in the poems. The second chapter deals with the notion of dance as alternative to description, the action or enactment in a poem, which Williams calls imitation. I attempt to show what dance is, the metaphor of it, and how it might manifest itself in (as) language, that is to say, the energy of the poem as dance. Then, in the light of several poems included in the text of the chapter, I discuss imitation in terms of composition and invention, what Williams considers the basic activities of the poet in the making of a poem. The third chapter deals with the act of engagement as dance, to engage in an activity, making love or writing a poem. I attempt to show, by reference to several of Williams' short stories and to In the American Grain, as well as to the poems, some of the kinds of perceptions and awareness that are characteristic of this kind of engagement, and how they shape the poem; and, in the end, to come to an understanding of what Williams means by penetration. In the fourth chapter, measure as dance, I examine some of Williams' ideas and practice in the rhythm and form of the poem, to show how measure is the shape the dance assumes, and how Williams resolved some of his own difficulties concerning the problem of measure. And the chapter concludes with a restatement of, and an insistence upon, the importance of the metaphor of dance. My purpose has not been to attempt a historic analysis or evaluation of Williams as critic and theorist, or as poet – though the fact of the thesis does imply certain judgements of value, and the text of it is, to some degree, analytical -- but to demonstrate and elucidate, by making the dance a basis for my discussions, some of Williams' primary concerns as poet. My emphasis, then, has not been on the views and theories of other critics, not on chronological developments in the poems themselves, but on the facts of the dance, immediate and actual. / Arts, Faculty of / English, Department of / Graduate

Orientador: Danilo Moretti Ferreira / Resumo: A síndrome de Williams-Beuren (SWB) é uma doença genética caracterizada por dismorfismos faciais, anomalias cardiovasculares, deficiência intelectual e perfil cognitivo típico. A SWB é causada por uma microdeleção hemizigótica da região cromossômica 7q11.23, de ~1,5Mb a 1,8Mb de genes de copias únicas e deleções maiores ou menores que esses limites são considerados deleções atípicas. O objetivo do trabalho foi detectar perdas ou ganhos de DNA por meio da técnica de MLPA na região crítica da SWB em pacientes com diagnóstico clínico estabelecido pela pontuação de escore da AAP, (2001) e com exame de FISH (-) realizado anteriormente pelo nosso grupo de pesquisa, e assim correlacionar os achados de perdas ou ganhos de DNA com os já descritos na literatura e correlaciona-los aos fenótipos/genótipo descritos em bancos de dados público como DVG, DECIPHER, UCSC Genome Browser dentre outros. Foram selecionados 30 indivíduos com hipótese diagnóstica de SWB e análise citogenética negativa para SWB estabelecida pela técnica da FISH. O diagnóstico clínico de SWB “clássica” foi estabelecido pelo escore da Academia Americana de Pediatria (2001). Foi realizada a extração de DNA das amostras e foi aplicada a técnica de MLPA com o kit SALSA P029 (MRC-Holland, Amsterdam, The Netherlands) com sondas específicas para os principais genes encontrados na região crítica da SWB. Nesta amostra predominou o sexo masculino (2M:1F) e a idade do 1° atendimento foi tardia (mediana 9,5 anos). A casuística ap... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Williams-Beuren Syndrome (WBS) is a genetic disorder characterized by facial dysmorphisms, cardiovascular anomalies, intellectual disability and typical cognitive profile. WBS is caused by a hemizygous microdeletion of the 7q11.23 chromosomal region, ~ 1.5Mb to 1.8Mb of single copy genes, and deletions larger or smaller than those limits are considered atypical deletions. The objective of this study was to detect DNA loss or gain by MLPA technique in the critical region of SWB in patients with clinical diagnosis established by AAP score (2001) and with FISH (-) examination previously performed by our search group, and thus correlate the findings of DNA loss or gain with those already described in the literature and correlate them with the phenotypes / genotype described in public databases such as DVG, DECIPHER, UCSC Genome Browser and others. Thirty individuals with diagnostic hypothesis of WBS and negative cytogenetic analysis for WBS established by the FISH technique were selected. The clinical diagnosis of “classic” WBS was established by the American Academy of Pediatrics score (2001). DNA extraction from the samples was performed and the MLPA technique was applied with the SALSA P029 kit (MRC-Holland, Amsterdam, The Netherlands) with probes specific for the major genes found in the critical region of the SWB. In this sample, the male gender predominated (2M: 1F) and the age of the first attendance was late (median 9.5 years). The sample presented the facial characterist... (Complete abstract click electronic access below) / Mestre

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System requirements: Adobe Acrobat Reader. Accompanied by 4 recitals, recorded June 12, 2006, Apr. 9, 2007, Nov. 12, 2007, and May 26, 2009. Includes bibliographical references (p. 65-66).

Introdução: A síndrome de Williams-Beuren (SWB) consiste de uma deleção no cromossomo 7q11.23, região responsável pela codificação de 28 genes, estando o gene codificador da elastina situado aproximadamente no ponto médio dos extremos da deleção; a mutação no gene da elastina leva a alterações fenotípicas no paciente, com prejuízo do desenvolvimento neuropsicomotor de graus variados, fáscies características, anormalidades cardiovasculares, hipercalcemia, disfunções urológicas e osteoarticulares. O presente estudo avaliou a prevalência de escoliose em pacientes com diagnóstico de SWB, bem como sua relação com o padrão das curvas nos portadores de escoliose. Métodos: Foram incluídos 41 pacientes com diagnóstico de SWB através da realização de anamnese, exame físico e investigação radiográfica, sendo 25 do sexo masculino. Realizou-se a interpretação das radiografias e obtenção do ângulo de Cobb. Resultados: Observou-se que 14 pacientes eram portadores de escoliose, sendo 10 do sexo masculino. O padrão da deformidade apresentou-se, nos pacientes mais jovens, através de curvas simples e flexíveis, e, apesar de adultos apresentarem ocorrência de duplas curvas e triplas curvas, a análise estatística não evidenciou relação entre escoliose e idade ou sexo dos pacientes. Conclusões: O estudo evidenciou prevalência de escoliose em portadores de SWB: 34,1%; entretanto, as variáveis idade e sexo não apresentaram relação com a ocorrência de escoliose, assim como a gravidade das curvas apresentadas / Introduction: Williams-Beuren syndrome (WBS) consists of a chromosome 7q11.23 deletion in the region responsible for encoding 28 genes, with the elastin encoding gene situated approximately at the midpoint of the extremes of deletion; mutation of the elastin gene leads to phenotypic changes in patients with neurodevelopment impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, and urological and bone and joint dysfunctions. This study assessed the prevalence of scoliosis in patients with WBS, and the relationship with the pattern of scoliotic curves. Methods: A total of 41 patients diagnosed with SWB were included in the study, 25 males, through anamnesis, physical examination and radiographic investigation. Radiographic imaging was interpreted and the Cobb angle was calculated. Results: It was observed that 14 patients had scoliosis, and 10 of them were male. The pattern of the deformity in younger patients was of flexible and simple curves, and although adults presented double and triple curves, statistical analysis showed no relationship between scoliosis and age or sex. Conclusion: The study revealed a prevalence of scoliosis in patients with SWB of 34.1%; however, the variables age and sex had were not significantly associated with scoliosis, nor with the severity of the curves