Dissertations / Theses on the topic 'Development Disorders'

We assessed clonal development and extent of progression of hemopoietic malignancies (dysmyelopoietic syndrome (DMPS) and acute myelogenous leukemia) by examining in vitro growth patterns of their normal and leukemic progenitors. Additional phenotypic and cytogenetic analysis of an in vitro human myeloid leukemia model (HL-60) and its variant sublines were performed. These were aimed at determining cytogenetic abnormalities associated with phenotypic changes which accompany the derivation of these variant sublines. Our findings indicate that in vitro bone marrow cultures can be used clinically to rule out preleukemia, and that quantitations of bone marrow culture (CFU-C) can determine the potential for the development of acute leukemia in the DMPS patients. Acute leukemia developed in 48% of DMPS patients with a median transformation of 10 months.
In acute leukemia, there was a preferential growth of normal karyotype in the in vitro cultures even among the phenotypically specified "blast" colonies.
Analysis of HL-60 variant sublines demonstrated the development of specific chromosomal abnormalities (1q+, iso8q, iso17q) in two cell lines (clones resistant to chemical induction) in association with loss of differentiation. These specific chromosomal abnormalities are known to be associated with tumor progression. The development of 1q+ abnormality was associated with loss of myeloperoxidase reaction and persistence of primary granules in that specific variant. A group of variant subclones was also associated with loss of differentiation, cytogenetically however, they demonstrated a revert to near diploid near normal karyotypes.

This paper explores literature on the effects of communication disorders on the social development of children. The paper discusses such topics as the effects of communication disorders on personality development, the ability to make friends and resolve conflict with peers, and academic success. It also discusses the influences of multiculturalism and bilingualism on the diagnosis of communication disorders and reflects on the importance of awareness of cultural differences in communication style to avoid a misdiagnosis. Research shows that without intervention and treatment communication disorders can have irreversible detrimental effects on a child’s ability to develop effect social-communication, to make friends, and to be successful in academic pursuits. Intervention strategies are discussed, such as group and individual therapy, as well as social skills and communication skills treatment. Effective intervention can help children overcome or avoid many of the negative effects of communication disorders and can allow them to reach their developmental potential and achieve success in many areas of life.

[Truncated abstract] Eating disorders affect a significant proportion of adolescent and young adult women and a smaller proportion of children, men, and older individuals. They are associated with a range of physical, psychological, and social consequences that can have a profound and lasting impact on affected individuals. Eating disorder symptoms (e.g., marked weight and shape concern, strict dieting, binge eating, purging) are also associated with physiological and psychosocial morbidity, and are reported by up to half of adolescent girls and one-third of adolescent boys. If eating disorders are to be effectively prevented or treated, it is imperative that risk and maintaining factors for the conditions are identified. ... This thesis aimed to identify the variables and models that may best account for the development and maintenance of eating disorder symptoms, through two broad studies and six sub-studies. Study 1 focused on identifying predictors of cognitive (i.e., elevated weight and shape concern) and behavioural (i.e., binge eating) eating disorder symptoms in pre- to early-adolescent children followed over time. Prospective tests of the dual-pathway (Stice, 2001) and cognitive-behavioural (Fairburn, 2002; Fairburn, Cooper, & Shafran, 2003) models of eating pathology were also conducted, and a distinction was made between weight and shape concern and weight and shape over-evaluation. Low selfesteem, perceived media pressure to be thin, weight and shape over-evaluation, and maternal concern about child weight prospectively predicted increases in child weight and shape concern over time (Studies 1b and 1c), and weight and shape concern was the most robust predictor of increases in dietary restraint (Studies 1b and 1d). Dietary restraint and affect-related eating prospectively predicted binge eating onset (Studies 1a and 1d), and the dual-pathway and cognitive-behavioural models were both able to account for the development of binge eating over a two year period (Study 1d). Evidence was also provided for the relative superiority of the most recent, enhanced cognitivebehavioural model (Fairburn et al., 2003) over other available theoretical accounts. Study 2 focused more specifically on the role of mood intolerance in predicting and maintaining eating pathology in adults. In Study 2a, a new measure of mood intolerance was developed, revised, and evaluated. In Study 2b, the role of mood intolerance in cross-sectionally predicting binge eating and purging was examined within the framework of the enhanced cognitive-behavioural model. The importance of mood intolerance in accounting for eating disorder symptoms was confirmed, and additional support for the cognitive-behavioural model was provided. Collectively, the six empirical studies have provided new data regarding the relative importance of different variables in the development and maintenance of different eating disorder symptoms. They also provide initial insight into the relative validity of alternate theoretical models in this area. The results suggest that the most recent, enhanced cognitive-behavioural model may provide the best account of how eating disorder symptoms develop and are maintained, providing that the mood intolerance component of the model is specified.

Disorders of sex development (DSD) are a diverse group of conditions in which there is variation from the typical chromosomal, gonadal, or anatomical developmental pathway. While much has been learnt about the genetic aetiology of many of these disorders, a significant proportion of cases remain without a definitive diagnosis. This thesis consists of a series of studies designed to look at different aspects of DSD in order to identify causes and develop better ways to assess and research these conditions in the future. Chapter 1 is an extensive literature review of normal sex development, models to describe the sex phenotype, steroidogenesis, steroid hormone structure and physiological role, classification of DSD, clinical uses of progestogens and determinants of foetal growth. An understanding of these diverse subjects is essential to consider the topics investigated. Chapter 2 presents the rationale for, and specific aims of, this thesis. Chapter 3 describes a study using the I-DSD registry, the largest international register of cases of DSD, to identify associated conditions co-occurring in DSD. 649 cases with documented consent were identified and analysed from the registry, with further information obtained from the reporting clinician where necessary. Associated conditions were reported in 168 cases (26%), overall, and when considered according to karyotype were reported in 112 cases of 46,XY DSD (24%), 27 cases of 46,XX DSD (22%), 19 cases of 45,X/46,XY (45%), and 6 cases of 45,X (75%). In 46,XY DSD, which represents the largest group of cases in the Registry, small for gestational age (SGA), cardiac and CNS anomalies were the most commonly reported associated conditions. This study strengthens the recognised association between SGA and non-specific 46,XY DSD. Additionally, the data indicate a possible association between genetically confirmed AIS and skeletal and renal anomalies. These results provide new research targets for cases in which the aetiology of DSD remains unclear. They also highlight the need for multi-disciplinary teams for management of these patients. Chapter 4 documents a clinical study investigating the association between hypospadias, one of the mildest conditions on the spectrum of DSD, and the measurement of anogenital distance (AGD). 88 boys had AGD measured under general anaesthetic during hypospadias surgery, alongside assessment of severity of hypospadias. Medical notes were reviewed for further information including birth weight, gestation and the presence of additional genital anomalies, as described by the external masculinisation score (EMS). Median AGD was found to be shorter in boys with severe hypospadias (63mm), than those with mild hypospadias (75mm) (p < 0.001). Additionally these boys were more likely to have lower birth weight SDS (-0.61) than boys with mild hypospadias (-0.42) (p= 0.013). This study is the first to show a link between severity of hypospadias, additional genital anomalies, and degree of AGD shortening. This supports the hypothesis that severe forms of hypospadias may be linked to inadequate androgen exposure in utero. Results also show that boys with more severe hypospadias have a lower birthweight, reinforcing the link between 46,XY DSD and SGA. Chapter 5 describes the use of a rat model to investigate the developmental effects of exposure to the progestogen medroxyprogesterone acetate (MPA) during the male programming window. It has been previously suggested that antenatal exposure to progestogens may be associated with DSD. In this study Sprague Dawley dams were injected with 75mg/kg or 150mg/kg of subcutaneous MPA on gestational days 14.5 to 18.5. Results showed that MPA exposure was associated with a shorter than normal AGD in male rats, and a longer AGD in female rats. Offspring of both sexes had reduced birth weight when exposed to MPA (control weight 5.99g, MPA 75mg/kg 4.58g, MPA 150mg/kg 4.72g). There was no evidence of an effect on internal reproductive structures, including testis weight. Chapter 6 describes studies using small vessel myography to investigate vascular function in the pregnant dams exposed to MPA in the previous studies. Low birth weight can be the result of altered vascular remodelling during pregnancy, leading to impaired placental function. It has previously been suggested that impaired placental function may be responsible for the combination of intra-uterine growth restriction and DSD. Uterine artery segments from animals exposed to MPA 150mg/kg demonstrated greater vessel wall thickness, and a trend towards an increase in internal and external diameter, with increased distensibility at higher pressures when compared to control segments. Wire myography showed that vasoconstriction in response to noradrenaline and NG-nitro-L-arginine methyl ester (L-NAME) was reduced following MPA exposure. These studies do not explain the causes of reduced growth in MPA exposed offspring. The responses seen are the opposite of those seen in animals with pre-eclampsia and hypertension, and may demonstrate the protective effect of progestogens in pregnancies complicated by these conditions. Chapter 7 draws together the findings of all the studies in this thesis, to reach overall conclusions. The common theme of an association between DSD and impaired foetal growth from all three branches of this work in discussed. The potential for further investigations in pursuing this work to strengthen conclusions and inform future practice is considered.

An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met. With a focus on mothers as primary caregivers, Interpretive Phenomenological Analysis was used to analyse semi-structured interviews with eight mothers of children with DSD about their experiences of support. Four master themes emerged which encapsulated the stages in their child’s development when mothers most needed support, the importance of developing an understanding of the child’s condition, the lack of an acknowledgement of the emotional needs of the parent, and the importance of having close and trusted networks for support. Continuity and availability of support were considered important and while all participants prioritised maintaining privacy about the condition, a minority felt that this impacted on the level of support they received. Key periods of time for support were identified and while some felt that they were well supported others felt that their support did not meet their emotional needs. The results were discussed in light of previous research, and the clinical implications considered.

It is generally accepted that children with speech sound disorders show error pattems similar to those of younger typically developing children (Beers, 1995; Dinnsen, Chin, Elbert, & Powell, 1990; Grunwell, 1987; Schwartz, Leonard, Folger, & Wilcox, 1980). Language-Specific pattems require research to be carried out in the language in which the disordered child is being treated.

The age of onset for eating disorders (anorexia and bulimia nervosa) among females is typically late adolescence. In the present study, it was hypothesized that the onset of eating disorders is related to the late-adolescent developmental task of identity development. Thirty-three late adolescent and young adult females who met DSM-III-R criteria for an eating disorder (anorexia nervosa, bulimia nervosa, or eating disorder not otherwise specified) and 33 control females completed the Extended Objective Measure of Ego Identity status -- 2 (EOMEIS-2). Results of chi square analyses revealed no significant differences between eating disorder and control females with regard to status of identity development. However, when identity status subscale scores were treated as continuous variables, several significant between-group mean differences emerged. In line with expectations, eating disorder subjects scored higher on ideological diffusion and moratorium, and they scored lower on ideological achievement. Eating disorder subjects also scored higher on interpersonal diffusion and lower on interpersonal achievement. In addition, there were significant correlations between ideological diffusion and measures of depression and anxiety. Unexpectedly, there were also significant correlations between ideological moratorium and measures of depression, anxiety, social alienation, family discord, and borderline personality symptomatology. The possible implications of these results for understanding frequently occurring, co-morbid symptoms in eating disorder subjects are discussed.

South Africa is unique in the arena of Intersex, in that for unknown reasons we have a very high percentage of ovotesticular DSD (True Hermaphrodite). Whereas ovotesticular DSD is the least common cause of hermaphroditism in other parts of the world, it is the most common cause of hermaphroditism in South Africa. There have been several studies in the past to determine the cause of ovotesticular DSD in our population but none of these studies found appropriate answers. The current state of understanding implicates signaling and signal transduction molecules and transcription factors suggesting that it is likely not all of the genetic factors involved have already been identified. It was hypothesized that exome sequencing of individuals with DGDs will identify new mutations and genes for these conditions. Therefore, this study aims to identify additional genes that are associated with ovotesticular DSD. By using a whole-genome sequencing approach we expected to be able to identify rare variants with this condition and determine the prevalence of mutations in these genes in the ovotesticular DSD population. After obtaining informed consent, blood specimen was obtained from eleven out of fifteen patients who had histological diagnosis of Ovotesticular DSD at the Red Cross War Memorial Hospital over a 10 year period. Blood specimen was also obtained from the biological parents of these children and sent to the Ostrer laboratory for whole genome sequencing and analysis. At the Ostrer laboratory, high quality DNA was extracted from blood for all of subjects and lymphoblastoid cell lines were created. Following sample preparation using the Illumina library preparation kit, sequencing was accomplished using paired-end sequencing technology on an Illumina HiSeq2000 sequencer. The data from the Illumina sequencers was analyzed first using the Illumina sequencing data analysis pipeline for quality control. Paired end reads were aligned to the Human Reference Genome (NCBI Build 36) using the BWA software. Each alignment was assigned a mapping quality score by BWA, which is the Phredscaled probability that a read is misaligned. The basic functional annotation of SNPs/Indels is performed by ANNOVAR. The clinical features of these patients was consistent with those found by other studies on Ovotesticular DSD in South Africa and it also showed the same pattern of variation to the clinical features of Ovotesticular DSD from other parts of the world. Similar to previous South African studies, this study found no convincing gene mutations as the possible etiology of Ovotesticular DSD in South Africa. Whiles gene mutations such as duplication of SOX 9 have been found in patients with XX Ovotesticular DSD from outside South Africa, this study could not identify any such mutations. This further adds to the suspicion that the unique features of Ovotesticular DSD in South Africa suggests a different etiology from that of other parts of the world. In conclusion, the etiology of Ovotesticular DSD in South Africa still remains elusive. It is however possible that a genetic mutation may be found from a more critical analysis of the genome of the patients and their parents.

[Truncated abstract] There are few existing screening instruments designed to identify Autism Spectrum Disorders (ASD) at an early age, such as the Checklist for Autism in Toddlers (CHAT) and the Modified Checklist for Autism in Toddlers (M-CHAT). Unfortunately, many are limited in their ability to identify children at risk in the first two years of life while displaying an acceptable level of reliability. Given this limitation, the present study aimed to identify any additional early markers of ASD from either the retrospective analysis of early autistic symptomatology (parental report and video analysis of footage made before the diagnosis) or performance-based measures linked to different theoretical accounts of ASD. Specifically, measures addressing theory of mind, executive dysfunction and weak central coherence were developed. In the first study, parents of three groups of children those of typical development (n = 19, mean CA = 26 months), children with an ASD (n = 39, mean CA = 34 months) and children with developmental delay (n = 14, mean CA = 28 months) were interviewed about their child's early development. In the first study, parents of three groups of children those of typical development (n = 19, mean CA = 26 months), children with an ASD (n = 39, mean CA = 34 months) and children with developmental delay (n = 14, mean CA = 28 months) were interviewed about their child's early development. Several behaviours discriminated children with ASD from children with typical development and children with delayed development. ... A discriminant function analysis using the two factor scores indicated that Factor 1 discriminated the ADI-R groups, while Factor 2 scores did not add to the ability of Factor 1 scores to discriminate the ADI-R groups. Furthermore, while the finding that joint attention behaviours differentiated children with ASD from children with typical development and children with delayed development, more research is needed to determine if this impairment is a precursor of a theory of mind deficit or if this impairment and later appearing impairments in theory of mind are the result of a more global impairment in social-emotional approach behaviours. Additional research is also needed to determine the relationship between the early appearing deficits in joint attention and the impairments in social relating behaviours that appear to develop later in the chronology of ASD development and how both of these relate to the theory of mind hypothesis of ASD.

Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2009.
Title from electronic title page (viewed Sep. 3, 2009). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in Speech and Hearing Sciences in the Department of Allied Health Sciences." Discipline: Allied Health Sciences; Speech and Hearing Sciences; Department/School: Medicine.

In order to understand and interact with the world, our brains must integrate information from multiple sensory modalities to create coherent representations of scenes and events. The integration of visual, tactile and proprioceptive inputs underpins the subjective sense of self and body ownership. This, in turn, underlies the development of social processes including self-awareness, imitation and empathising, which are impaired in autism spectrum disorders (ASD). Evidence suggests that the social functioning deficits characterising ASD could contribute to atypical sensory integration underlying body representation. However, the exact mechanisms underlying sensory integration difficulties have not been specified. Moreover, it is not clear when, and how, visual, tactile and proprioceptive integration matures in typical development. This is important to establish, in order to compare how and why this integration may differ in ASD populations. This thesis firstly aimed to investigate the typical development of multisensory integration underlying body representation. Experiment One found that the ability to optimally integrate visual and proprioceptive inputs during hand localisation increases with age from very little integration in 4-year-olds to almost adult-like in typically developing 10- to 11-year-olds. Experiments Two and Three showed that sensitivity to the spatial constraints of visuo-proprioceptive integration, and sensitivity to the temporal constraints of visuo-tactile integration, develops with age in 4 to 11-year-olds. Together these studies suggest that the maturation of adult-like multisensory integration for body representation follows a protracted time course over childhood. The second aim of this thesis was to investigate the evidence for two prominent theories of atypical sensory integration underlying body representation in ASD. These are 1) an over-reliance on proprioception and 2) temporally extended sensory binding. Experiment Four examined whether trypically developing (TD) adults with a high number of autistic traits exhibit an over-reliance on proprioception. No evidence was found for this, which could indicate that atypical sensory integration is only present in individuals with a clinical diagnosis of ASD. Experiments Five and Six found evidence for temporally extended visuo-tactile integration in children with ASD, compared to TD control participants. Though no evidence was found for a fundamental over-reliance on proprioception, extended binding may have led to reduced processing of temporal synchrony over modality-specific information (i.e. proprioception). Experiment Seven and Eight found no evidence of proprioceptive over-reliance or temporally extended sensory binding in adults with ASD, relative to a TD control group. I conclude that children with ASD demonstrate temporally extended visuo-tactile binding. This represents a developmental delay rather than a life-long deficit; however, it could have a life-long impact on sensory sensitivities and social processing.

Millions of individuals suffer disability or death from immune-based inflammatory diseases. If psychiatric disorders could be empirically linked to the prediction of immune-based inflammatory diseases, there would be a basis for promoting disease prevention measures for individuals diagnosed with one of four psychiatric disorders. Psychoneuroimmunology provided the theoretical base for understanding emotionally induced medical disease development. In this quantitative study, a parallel archival research design was used to investigate the degree to which generalized anxiety disorder, posttraumatic stress disorder, major depression recurrent, and dysthymic disorder predicted the presence of atherosclerosis, cardiovascular heart disease, rheumatoid arthritis, cancer, and type II diabetes. There were 1,209 electronic medical records of adult patients obtained through purposive stratified sampling. A secondary data analysis was employed using descriptive cross tabulation, chi-square test of independence, and multinomial logistic regression. The findings revealed major depression recurrent was a statistically significant predictor for atherosclerosis, rheumatoid arthritis, type II diabetes and cancer. Generalized anxiety disorder was a statistically significant predictor for cancer. The results can promote positive social change by providing information that could be used to develop assessment plans that identity individuals who are at risk of developing the comorbid diseases. The prevention programs could effectively be used to minimize the subsequent development of inflammatory diseases, which in turn could decrease the onset of the medical diseases among individuals with psychiatric disorders.

Linguistic dysfluencies known as mazes have been interpreted clinically as reflecting breakdown in language formulation. Nevertheless, the relatively limited available research has suggested that maze frequency increases with linguistic complexity and that mazes are produced more frequently by children with specific language impairment (SLI) than normal language (NL) peers. This study examined the hypothesis that greater maze production by children with SLI results from their processing limitations. Language samples of school-age children with SLI (n = 9) and NL (n = 11) were collected in contexts varying in task demands: conversation, narration and expository discourse. Both groups produced significantly more mazes in the more demanding contexts than in conversation. However, no significant group effect was noted for age-matched or MLU-matched groups. These results suggest that mazes should not be viewed primarily as an indication of processing limitations or a clinical marker for SLI, but more appropriately as a byproduct of linguistic complexity across groups.

As modern medicine advances knowledge of the human body, mental health is still underrepresented and in some cases ignored as a 'real' medical issue (Latzer, 2011). Under that umbrella falls eating disorders, particularly these three types: anorexia nervosa, bulimia nervosa, and binge eating disorder. This study was done in order to better understand what influenced female survivors of eating disorders to seek treatment. In America, approximately 0.9 percent of women will develop anorexia eating disorder (Stice E & Bohon C. 2012) , 3.5 percent of women will develop a binge eating disorder, and 1.5 percent will develop a bulimic eating disorder (Hudson et al, 2007). While these percentages may seem small, the health problem is not, eating disorders have the highest mortality rate of any mental illness (Smink et al, 2012). The purpose of this study is to understand what psychosocial factors influence people with eating disorders to seek treatment.

This thesis examined influential factors in the development and maintenance of eating disorders. The first chapter investigated homosexuality as a predisposing factor in the development of anorexia and bulimia nervosa in males by considering the published literature on this subject. The implications of the role of homosexual culture in the treatment of males with eating disorders are examined. The main study used techniques from grounded theory to examine the subjective experiences of women with anorexia and bulimia nervosa regarding the influence of media in the development and maintenance of their disorder. Semi-structured interviews were conducted with nine women and data collection and analysis were carded out until a point of saturation was reached. A model was developed to explain the relationship between media influence and eating disorder development and maintenance. Clinical implications and avenues of further research were explored. The brief paper examined the stories of women with anorexia and bulimia nervosa about the development of their eating disorder using narrative analysis techniques. Three semi-structured interviews were analysed and the ways in which the women made sense of their eating disorders were examined. Clinical implications were also discussed. The final chapter explored the researcher's reflections on the research process focusing on methodological considerations and personal reflections of the researcher.

Doutoramento em Psicologia
No presente estudo foram desenvolvidos dois instrumentos (Severity Assessment Based on Events of Stuttering – SABES; Assessment of Language Use in Social Contexts for Adults – ALUSCA), para avaliar adultos que gaguejam (AQG). Os instrumentos foram desenvolvidos com base na adaptação da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) ao estudo da gaguez. Foi ainda realizada a tradução e adaptação cultural de um questionário (Public Opinion Survey of Human Attributes-Stuttering – POSHA-S) que tem como finalidade a determinação das atitudes da sociedade relativamente à gaguez e às pessoas que gaguejam. O instrumento SABES avalia a gravidade da gaguez através da avaliação da frequência, duração, comportamentos associados, grau de tensão e naturalidade de cada momento de gaguez, em quatro amostras de fala, através do uso de um software de anotação. Foi determinada a validade de conteúdo, a consistência interna e a validade de construto do instrumento SABES. A validade de conteúdo foi analisada através de um processo de duas etapas. O estudo piloto foi conduzido com 5 AQG para analisar a praticabilidade dos procedimentos. A consistência interna foi analisada através do alfa de Cronbach. Os procedimentos do SABES foram aplicados a 92 amostras de fala para determinar a validade de critério e a validade de construto. Relativamente à validade de conteúdo, os instrumentos sistematicamente revistos para esta Tese avaliam entre 1 e 7 tipos de medidas comportamentais. As tabelas de conteúdo desenvolvidas revelaram que a maioria dos instrumentos de avaliação mede a frequência dos momentos de gaguez em percentagem de palavras gaguejadas, a duração em quantidade de tempo/unidades de repetição, os comportamentos associados utilizando descritores qualitativos/lista com diferentes tipos e os tipos de disfluência utilizando diferentes classificações; o grau de tensão e a naturalidade são avaliados apenas pelos dois mais recentes instrumentos desenvolvidos para avaliar a gravidade da gaguez. A análise quantitativa e qualitativa revelou desacordo entre os peritos consultados relativamente à clareza, simplicidade e precisão das instruções para recolha das amostras de fala. A consistência interna encontra-se garantida, uma vez que o resultado obtido para cada amostra de fala ultrapassa o cut-off de 0.7. Foi obtida uma significante e larga correlação entre o resultado do SABES e um critério externo. O constructo subjacente à construção do SABES foi manifestado pela contribuição singular de cada medida comportamental, revelado através da existência de uma correlação entre 0.30 e 0.70. Através dos resultados obtidos é possível concluir que o SABES é um instrumento que apresenta evidências de fiabilidade e de validade de conteúdo, construto e critério. O ALUSCA é um questionário que estima o efeito dos fatores ambientais em adultos, especificamente no que diz respeito à auto-perceção do nível de facilidade na utilização de competências pragmáticas de linguagem numa troca comunicativa difícil. Foram determinadas a validade de conteúdo, realizada análise de itens e obtidos coeficientes de fiabilidade e de validade de construto. O estudo piloto foi conduzido com 5 AQG e 5 controlos com vista à análise dos itens e ao cálculo de coeficientes de fiabilidade. Evidências de validade de construto foram obtidas através da aplicação do questionário ALUSCA a 28 AQG e a 28 controlos, utilizando análise fatorial e o método de relações hipotéticas. Relativamente à validade de conteúdo, os questionários revistos analisam um máximo de 12 competências pragmáticas de linguagem. A análise quantitativa e qualitativa revelou ambiguidades na construção de alguns itens. O estudo piloto permitiu concluir que o instrumento apresenta bons níveis de consistência interna e estabilidade temporal. As diferenças significativas entre os resultados do ALUSCA dos AQG e dos controlos, bem como os diferentes perfis de resposta revelaram o construto subjacente à construção do ALUSCA. Pode ser concluído que o ALUSCA é um questionário fiável e que apresenta evidências de validade de construto. A tradução e adaptação cultural do POSHA-S contribuiu para a determinação das atitudes e conhecimento do público relativamente à gaguez, através de uma amostragem probabilística de um país (Portugal). O POSHA-S foi traduzido para Português-Europeu através de um processo de 5 etapas. A amostra (N=311) foi obtida através de uma amostragem probabilística por clusters (em três estádios). As atitudes da população portuguesa encontram-se na sua maioria entre os percentis 25-75. As variáveis demográficas que predisseram atitudes mais positivas foram a idade, a região, anos de escolaridade completados, situação profissional e número de línguas faladas. As variáveis demográficas que não predisseram atitudes mais positivas foram o género, o estado civil e a paternidade. Pode ser concluído que a maioria das atitudes da população portuguesa se encontram acima da média, quando comparada com a amostra total. O esquema de probabilidade utilizado permitiu a generalização dos achados. Os instrumentos desenvolvidos serão parte de um processo de avaliação multidimensional de um AQG. Os procedimentos do SABES contribuirão para a determinação da gravidade dos comportamentos observáveis de gaguez de forma precisa. O questionário de auto-avaliação ALUSCA proporcionará a obtenção de informação precisa relativamente ao impacto das exigências pragmáticas em AQG. As atitudes da sociedade e o conhecimento acerca da gaguez serão essenciais para informar e melhorar o conhecimento da situação de um AQG numa perspetiva ampla, contribuindo para o processo de dessensibilização quanto às atitudes dos interlocutores.
In this study two assessment instruments (Severity Assessment Based on Events of Stuttering – SABES; Assessment of Language Use in Social Contexts for Adults – ALUSCA), were developed with the aim to assess adults who stutter (AWS), based on an adaptation of the International Classification of Functioning, Disability and Health (ICF) to the study of stuttering. A questionnaire used internationally to assess society attitudes toward stuttering (Public Opinion Survey of Human Attributes-Stuttering – POSHA-S) was also translated and cross-cultural adapted to Portuguese. The SABES assess severity through the measurement of frequency, duration, associated behaviours, tension degree and naturalness of each stuttering moment in four speech samples based on an annotation software. Content validity, internal consistency and evidences of construct and criterion validity were determined. The content validity was analysed using a two stage process. A pilot study was conducted with five AWS to analyse the feasibility of SABES procedures. Internal consistency was analysed through Cronbach’s alpha. The SABES procedures were applied to 92 speech samples to assess criterion and construct validity. Related to content validity, the instruments systematically reviewed for this Thesis assessed between one and seven types of speech behavioural measures. Tables of content revealed that the majority of the instruments measure frequency in terms of percentage of stuttered words, duration in amount of time/repetition units, associated behaviours with qualitative descriptors/list type and types of disfluencies using different classifications; tension degree and naturalness were assessed solely by the two most recent severity instruments. Qualitative and quantitative analysis revealed disagreements between experts concerning clarity, simplicity and accuracy of the speech sample collection instructions. Internal consistency was guaranteed, as the result for each speech sample was higher than the cut-off threshold of 0.7. A significant and large correlation between SABES total score and an external criterion was found. The SABES’ underlying construct was revealed by the singular contribution of each behavioural measure, as shown by a useful degree correlation (i.e., between 0.30 and 0.70). It could be concluded that SABES is a reliable and presented evidences of content, construct and criterion validity. The ALUSCA estimates the effects of environmental factors on adults, specifically related to the self-perception of the level of ease in using pragmatic language competencies (PLC) on a difficult communicative exchange. Content validity analysis, item analysis, reliability coefficients and evidences of construct validity were analysed. The content validity was analysed using a two stage process. A pilot study was conducted with five AWS and five controls to analyse items and to calculate reliability coefficients. Construct validity evidences were obtained through ALUSCA application to 28 AWS and 28 controls, using the hypothesised relationships method and factor analysis. Concerning content validity, the questionnaires reviewed assessed up to twelve PLC. Qualitative and quantitative analysis revealed ambiguities in items construction. The pilot study showed that the instrument presented internal consistency and temporal stability. Significant differences between AWS and controls, and different response profiles revealed ALUSCA’s underlying construct. It could be concluded that ALUSCA is a reliable and presented evidences of construct validity. The translation and cross-cultural adaptation of the POSHA-S contributed to the determination of public attitudes and knowledge toward stuttering in a probability sampling of an entire country. The POSHA-S was translated to European Portuguese through a five-step process. A sample (N= 311) was collected through a three-stage cluster probability sampling, with a local administrative office-based. The attitudes of the Portuguese population were generally in the interquartile range. The demographic variables that predicted more positive stuttering attitudes were respondents’ age, region of the country, years of school completed, working situation, and number of languages spoken. Non-predicting variables were respondents’ sex, marital status, and parental status. It could be concluded that the majority of attitudes of the Portuguese population fell in the interquartile, meaning that POSHA-S scores were about average, compared with the total data sample. The probability sampling scheme used allows the generalization of the findings. The instruments developed will be part of a broader and multidimensional assessment process of an AWS. The SABES procedures will contribute to the accuracy of the severity determination. Information collected through the self-assessment ALUSCA questionnaire will provide accurate information regarding the impact of pragmatic demands on AWS. The society attitudes and knowledge toward stuttering will be essential to inform and improve the understanding of an AWS’s situation in a broader perspective, contributing to the desensitization process concerning other’s communication attitudes.

This thesis investigates psychosocial development, with a particular emphasis on Identity formation, in women sufferers of eating disorders (Anorexia Nervosa &/or Bulimia Nervosa). It consists of three sections; Section 1 comprises a literature review. Literature on Identity formation is reviewed, with a particular emphasis on the work of Erik Erikson. Current understandings of eating disorders, including those looking at the socio-cultural context, are presented. Finally, issues pertaining to Identity and to eating disorders are brought together and a relationship is suggested in which Identity issues act as a mediating factor between current cultural conditions in Western society and the rising incidence of eating disorders. Section 2 comprises the research report. The study is described which was carried out to investigate the psychosocial development of women suffering from eating disorders. In particular issues ofIdentity development were addressed. Three control groups were included in the study - two involving women suffering from psychological distress and one comprising 'psychologically healthy' women. Levels of psychological distress were measured using the Brief Symptom Inventory (BSI) (Derogatis, 1982). Psychosocial development was investigated within an Eriksonian framework using the Hawley's (1988) Measures of Psychosocial Development self-report inventory (MPD). The results demonstrated that the Eating Disordered group showed significantly poorer outcome on the majority of the stages of psychosocial development, including greater Identity confusion and less successful resolution of the Identity 'crisis', according to participants' self-reports. The Eating Disordered group also reported experiencing greater psychological distress than all of the control groups. Section 3; comprises a critical appraisal of the research process. Information is included on background and practical issues related to carrying out the project as well as reflections regarding the process and personal impact of the work.

Although up to 40% of children with autism spectrum disorder (ASD) have a comorbid anxiety disorder, little is known about the origins and trajectory of change in anxiety symptoms in ASD. Characteristics specific to ASD such as social impairments and alexithymia may alter the experience of anxiety in this population. Consequently, anxiety may differ in the ASD population and merits focused study. This dissertation consists of two related studies that used data from the longitudinal Pathways in ASD study. The psychometric properties of the Spence Children’s Anxiety Scale – Parent Form (SCAS-P) in 238 children who were seen annually from ages 7.5 to 11 were examined in Study 1. While the original six-factor structure was not a good fit in this sample, four subscales reflecting Generalized, Separation Anxiety, Panic and Agoraphobia symptoms were identified. In Study 2, parent ratings of Generalized, Separation Anxiety, Panic and Agoraphobia symptoms were captured at snapshots in middle childhood, as well as changing over time in 262 children who were seen annually between ages 7.5 to 11. The proportion of children whose parents rated them as experiencing Elevated Generalized Anxiety was comparable to past reports, though rates of Elevated Separation Anxiety symptoms were higher than past reports. Parent-rated Generalized Anxiety, Separation Anxiety, Panic and Agoraphobia symptoms were stable over the middle childhood years, and there was little variance in the trajectories of all except the Separation Anxiety domain. Children with age-typical language abilities were rated as experiencing higher levels of Generalized and Separation Anxiety in middle childhood. Parent-rated anxiety in early childhood significantly predicted higher Generalized and Separation anxiety across middle childhood, while parental internalizing symptoms in early childhood were predictive of Generalized, but not Separation Anxiety symptoms. There were no differences in Generalized or Separation Anxiety levels across ages 7-11 between boys and girls. The results of this research offer a deeper understanding of the psychometric properties of one widely used anxiety rating scale, as well as its predictors, incidence and development over middle childhood. In turn, this understanding can support efforts aimed at preventing and treating anxiety disorders in ASD.
Education, Faculty of
Educational and Counselling Psychology, and Special Education (ECPS), Department of
Graduate

There is evidence that Eating Disorders (ED) may have implications for fertility, pregnancy and, diet and growth in their children. However, few large longitudinal investigations have been conducted. Women with ED have an increased risk for adverse obstetric outcomes; one proposed pathway is via elevated psychopathology during pregnancy, and consequently foetal overexposure to cortisol and corticotrophin-releasing-hormone, which may in turn have implications for stress regulation in their children. The aim of this thesis was to investigate the effects of ED on fertility and pregnancy, as well as specific aspects of infant and child development. Five interrelated studies were undertaken, utilising two separate methodological approaches. First, a large (n= 12,254) longitudinal birth-cohort was employed to investigate fertility and attitudes towards pregnancy in women with and without ED, and longitudinal patterns of diet and growth in their children. Second, maternal psychopathology and cortisol levels during pregnancy, and potential associations with obstetric outcomes, were investigated in a clinical sample of women with and without ED (n=88). At eight weeks post-natal, infant cortisol levels in response to stress were investigated in a sub-sample of mother-infant dyads (n=59). The findings suggest that women with ED take longer to conceive and more frequently experience negative feelings towards their pregnancy than women without ED. Women with active ED showed persistently high levels of psychopathology and differential diurnal cortisol patterns during pregnancy, which were associated with lower birth weights and shorter gestations. Furthermore, children of women with ED were found to experience elevated cortisol levels, and some differences in dietary patterns and growth trajectories. The general strengths and limitations of these investigations are presented and areas for future research are considered.

Rationale: Autism is a neurodevelopmental disorder with onset prior to the age of three years characterized by qualitative impairments in social interaction and communication skill, along with a restricted repetitive and stereotyped pattern of behavior, interests, and activities. In addition to these core diagnostic features, aberrant sensory responding has also been widely reported in the literature describing children and adolescents with autism spectrum disorders (ASD). Aberrant sensory processing has, however, been infrequently studied compared to communication and cognition in autism and existing studies have had multiple methodological deficiencies, especially with sampling procedures. Purpose. The purpose of this study is to describe patterns of sensory processing found in children with an ASD to test the relationship(s) of these patterns to diagnostic and developmental variables. Method. Retrospective data collection was used to collect developmental and sensory processing variables of 400 children with an ASD. Sensory processing abilities were measured by the SSP. Results. The majority of the sample (80.5%) had a diagnosis of autism. The average age of the sample was 49.58 months. The adaptive, social, language, and motor developmental variables were consistent with diagnostic patterns in that the children with Asperger Disorder demonstrated higher developmental levels than the children with autism and PDD-NOS. Eighty-nine percent of the sample demonstrated some degree of sensory processing dysfunction on the SSP Total Score with the greatest difficulties reported on the Underresponsive/Seeks Sensation, Auditory Filtering, and Tactile Sensitivity sections. Exploratory factor analysis identified 6 parsimonious factors: Low Energy/Weak, Tactile and Movement Sensitivity, Taste/Smell Sensitivity, Auditory and Visual Sensitivity, Sensory Seeking/Distractibility, and Hypo-responsivity. These factor variables contributed to explaining the differences in five of six developmental variables of the sample that are associated with the diagnosis of autism. Receptive language, adaptive and expressive language performance were significantly correlated with sensory processing factor scores. Conclusions. Together, the sensory processing findings noted in this study describe a pattern of dysfunctional sensory modulation. These findings have significant implications for intervention programs involving individuals with an ASD, given the potential impact of these findings on a childs ability to maintain active engagement.

Thesis (Ph. D.)--School of Nursing. University of Missouri--Kansas City, 2008.
"A dissertation in nursing." Advisor: Peggy Ward-Smith. Typescript. Vita. Title from "catalog record" of the print edition Description based on contents viewed Sept. 12, 2008. Includes bibliographical references (leaves 84-96). Online version of the print edition.

Eating disorder clients show low motivation, poor follow-through, and inordinate premature dropout rates in treatment. Earlier studies support the use of pretherapy training to help clients understand the tasks and challenges of therapy. However, a pretherapy intervention, such as showing prospective clients a video that outlines recovery issues and themes, had not yet been developed specifically for the prevalent, recalcitrant problem of eating disorders. Thus, of particular interest to clinicians who treat eating disorders may be the development of a theoretically sound, pretherapy videotape that outlines recovery issues. One of the purposes of this study was to review prior investigations of the 111 effects of pretherapy films/videos on therapy outcomes. However, the central focus of this dissertation was to develop a pretherapy video for use with eating disorder clients, and using quantitative methods, assess the quality and likely therapeutic utility of the pretherapy video. The video was developed to be theoretically consistent with Bandura' s modeling paradigm, social learning theory. Eating disorder clients, a comparison group of college women, and professional clinicians who are experienced at treating women with eating disorders were asked to view and evaluate the video (developed to orient prospective clients to recovery issues during treatment for eating disorders). All three groups reportedly found the recovering women portrayed in the video credible, believable, and persuasive. All groups of observers indicated that the video presented an understandable and hopeful message possessing emotional impact, and they avowed that the video created expectations for improvement. Also, the viewers believed the pretherapy video would likely increase knowledge of eating disorder recovery, and that future eating disorder clients viewing the video would likely learn new information that would facilitate their recovery. Additionally, the three groups indicated the video seemed to be of general relevance and therapeutic utility to women with eating disorders.

There is a lack of clarity in the current literature in how potential etiological factors interact and result in disordered eating. The purpose of this study was to examine an expanded model of Personality, Social Support, Appraisal/Coping Processes, Abuse History, Internalization of Sociocultural Standards, Psychological Disturbances, and Body Disparagement in the development of disordered eating. The current model was evaluated using 276 women in their transition to college, a time period highly associated with symptoms believed to increase a woman's risk for the development of disordered eating including perceived difficulty coping, weight gain, and negative affect. Structural equation modeling was used to allow simultaneous examination of the causal relationships between the factors. Structural analyses confirmed that college women with previous stressful experiences appraised the adjustment to college as more stressful and reported feeling less able to cope with the transition. Those women who identified the transition as overwhelming were also aware of increased negative mood and psychological states since beginning the school semester. Further, women with previous traumatic sexual experiences appeared to be at additional risk for increased negative affective symptoms. The resulting model confirmed that those women who experience negative mood states and those that endorse strong internalization of cultural values regarding attractiveness encountered increased dissatisfaction and disapproval of their bodies. Finally, women with higher levels of body concern engaged in more eating behaviors associated with disordered eating. The roles of personality functioning and perceived social support could not be identified in the developmental model. The predictive links between constructs in the resulting model provide meaningful information regarding the transition to college and associated risks for development of disordered eating. Validation of the model in an independent sample would provide confirmation of these relationships and longitudinal research examining females' attitudes across crucial developmental periods might provide important information regarding which individuals are most at risk for development of disordered eating.

This thesis gives an account of ten years work in Brent which has utilised community development methods to initiate a range of health education and counselling initiatives for sickle cell disorders. As a background the social, political and medical experiences in the United States of America are described in an attempt to analyse the role of institutional racism and the failure of conventional health planning systems to provide black and ethnic groups with relevant services. The major part of the thesis describes a systematic programme of local development work in Brent, which was conducted on the basis of collaboration between the local voluntary organisation and the local health authority. The absence of any systematic data concerning the prevalence of the disorders in Brent prompted research to establish a register of local patients. A survey amongst community nurses in Brent and Paddington identified a low level of awareness about the condition mainly due to a lack of information in basic training. Taped interviews with 22 local parents of affected children revealed harrowing experiences, reflecting the lack of information and support from within the National Health Service. These findings indicated the need for an alternative, community development approach to promote sensitive, non-racist health education and counselling initiatives. This led to the setting up in Brent of the first Sickle Cell Counselling Centre in Britain. Educational initiatives have been developed for the local community, for affected families, and for health professionals. The experience in Brent reveals how black health workers, committed to community development strategies, can effect change within the NHS in relation to the health needs of black and ethnic groups. The significance of the Centre as a possible model for other health districts is examined, in particular as an approach to redressing inequality, encouraging community participation, and promoting inter-agency collaboration.

This study examined the effects of a 2-day professional development for special education teachers of students who have Autism Spectrum Disorders (ASDs). The professional development included general knowledge of ASDs and teaching strategies that could be used in the classroom to assist children with ASDs. This study also ascertained teachers’ perceptions and knowledge gains as a result of participating in professional development opportunities on ASD.

The overarching research question addressed in this study was: Does a professional development on ASDs for special education teachers increase their knowledge of ASD and their knowledge and ability to implement strategies in the classroom? The specific research questions were: 1. Does the professional development change teachers’ perceptions of students with ASD? 2. Does the professional development increase the special education teachers’ knowledge of ASD? 3. Does the professional development provide specific teaching strategies directly related to students with ASDs’ success?

The researcher employed a mixed methods approach for this research study. The researcher collected data using the ASD Inventory (pre and post assessment). The study measured participants’ perceptions and knowledge of ASD, provided evidence-based practices to the participants, and assessed the participants’ comfort levels teaching students with ASD. The inventory assessments were analyzed using paired-samples t-test to obtain the final results.

The overall goal of this study was to learn about how to create effective professional development experiences for special education teachers in the area of ASDs. The goal was to enhance teachers’ perceptions of teaching students with ASD, increase their technical knowledge of ASD, and improve their knowledge of strategies to use when teaching students with ASD, as assessed by the ASD Inventory.

The major findings in this study were that after a 2-day professional development on ASD, there was a significant change in teachers’ perceptions of students with ASD, as well as a significant increase in teachers’ knowledge of ASD. Evidence of teaching strategies provided by the professional development was indicated through the assessment and teacher participation. Therefore, teachers learned strategies to meet the needs of students with ASDs.

"May 2002." Addendum inside back cover. Bibliography: p. 139-157. Aims to isolate ephrin ligands from Drosophila melanogaster and analyse their involvement in Drosophila deveopment. Also investigates the potential of ephrin B-1 as a causative gene in the human condition Aicardi's syndrome.

Desmosomes are intercellular junctions that anchor intermediate filaments to the sites of intercellular contacts. They are critical for maintaining the integrity of tissues that experience constant mechanical and structural stresses, like the skin and heart. Perturbation of desmosomal adhesion can lead to devastating epidermal and myocardial diseases. However, little is known about the regulators of desmosomes and the role of desmosomes in cell signalling events. Recent work has suggested that iASPP, an inhibitor of the p53 family of proteins, localises at the intercalated discs where desmosomes reside. However, its role at the desmosomes has remained elusive. Thus, in this thesis, it was investigated whether iASPP is a dual function protein that links desmosome adhesion to gene expression and if desmosome-related diseases develop in the absence of iASPP. iASPP was found to be a novel regulator of desmosomes, co-localising with them by physically interacting with the desmosomal components desmoplakin and K5 intermediate filaments. Loss of iASPP resulted in increased phosphorylation and solubilisation of desmoplakin, leading to the formation of K5 aggregates. This culminated in disrupted intercellular adhesion and enhanced cellular migration. Consistent with the role of iASPP in the maintenance of desmosomal adhesion integrity, focal palmoplantar keratoderma was observed in iASPP-deficient mice — a disorder often associated with desmosome dysfunction. This was accompanied by disrupted intracellular signalling, as exemplified by the disrupted expression of differentiation markers; an increase in the thickness of cell layers expressing differentiation marker K1 was noted, and K5 and K6 cells were ectopically expressed throughout the diseased palmoplantar epidermis. Impaired intercellular adhesion and migration had consequences for wound healing, as iASPP-deficient mice exhibited delayed wound closure. Furthermore, defects in eyelid closure in iASPP-deficient mice were found to be due to increased apoptosis. The localisation of apoptotic cells at the leading edge of the eyelid epidermis implied that apoptosis might have occurred due to a loss of cell-matrix or cell-cell contact, i.e. anoikis. Taken together, these results suggest that iASPP is involved in pathological (palmoplantar keratoderma), physiological (wound healing) and developmental processes (embryonic eyelid closure) through its regulation of desmosomes and their dynamics. Therefore, iASPP represents a new candidate gene in cutaneous disorders and could be implicated in a variety of epidermal and myocardial diseases.