The Discouragement Scale for Adults (DSA) was developed to assess for the Adlerian construct of discouragement in adults age 18 years and over. Data were collected from three samples: norm (n=586), presumed discouraged (n=47), and parents of children with craniofacial anomaly (n=105). Five subscales corresponding to life tasks identified in Adlerian literature as work, love, society, self-significance, and spirituality underlie the 60 item DSA. Item selection was based on ratings by five notable Adlerians and item correlations with scale scores. Gender, age, and ethnicity norms were established for the norm, presumed discouraged, and craniofacial samples. Across three samples, no significant ethnic differences were found. Normative findings indicated females are less discouraged than males on the Total DSA, the society and spirituality subscales. Age findings indicated the 18-34 year old sample is more discouraged than other ages on the Total DSA, the work, society, and spirituality subscales. Presumed discouraged findings indicated females are less discouraged than males on the society subscale. Craniofacial findings indicated females are less discouraged on the society subscale, but more discouraged on the self-significance subscale than males. Age findings indicated the 18-34 year old sample is more discouraged than other ages on the self subscale. Research on CPA parents' relationship status, CPA child's birth order, parental role of adult to CFA child, length of time the parent has cared for CFA child, the CFA child's age, CFA parent's education level, and CFA child's craniofacial anomaly diagnosis was conducted. Findings indicated birthmothers are less discouraged than birthfathers on the society subscale, but more discouraged on the self-significance subscale. Internal consistency ratings of the DSA were .9392, .9496, and .9365 for three samples. Correlations to measures of social interest were negative and significant, reflecting an inverse relationship between discouragement and social interest. Factor analysis and interscale correlations are presented. Future research could include continued instrument validation and establishment of score ranges to indicate adult discouragement.

Includes bibliographical references. / 2 v. : / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Sets out the principles of craniofacial surgery and how they have been utilised to form the Australian Craniofacial Unit. Progress of the organisation is mapped over twenty one years using selected published papers in which the author has in some way contributed to the development of teaching, research and service in craniofacial surgery. Papers are grouped so as to show the progress made in the areas of trauma, the craniosynostoses, rare craniofacial clefts, frontal ethmoidal meningoencephaloceles, craniofacial tumours, as well as research and development. / Thesis (M.D.)--University of Adelaide, Dept. of Surgery, 1999

Dentofacial deformities have an adverse impact on functional as well as psychological wellbeing. Being highly visible, they may lead to a host of psychological problems particularly in youths and young adults as concerns about bodily identity and integrity are likely to be most prominent. Body image and self-esteem have been noted to play an important role in adjusting to disfigurement. Those who opted for corrective orthognatic surgery with realistic expectations were found to have a higher level of satisfaction with the outcome of the surgery. In contrast, undue and unrealistically positive aspirations towards the surgery are implicated in increased post-operative psychological difficulties. This study aimed to systematically document the variability of psychological adjustment and study the predictors of well-being in individuals with dentofacial deformity after orthognathic surgery. Seventy patients pending to go through orthognathic surgery were recruited from a university based dental hospital. Assessments of the patients’ overall psychological condition and adjustment towards their dentofacial deformity were conducted with standardized questionnaires and compared with similar assessment conducted with control subjects. The patients’ motivations for orthognathic surgery, psychological well-being, as well as expectations on the outcomes of surgery were studied through individually conducted psychological assessment interviews. Patients were re-assessed at 6 and 12 months after surgery on their level of satisfaction toward the outcome of surgery as well as to gauge possible changes in their psychological condition. There was no excess of significant psychopathology in patients with dentofacial deformity compared to the normal control group. However, as predicted, people with dentofacial deformity were more dissatisfied with their facial attractiveness. They also have more problems in interpersonal sensitivity. In the patient group, functional impairment or disability was a lesser concern compared to body image and presentation. Improvement of physical attractiveness was a strong underlying motivation for treatment. Longitudinal data on patients’ level of satisfaction with the treatment outcomes and perceived benefits associated with the improved facial esthetics will be further analyzed in the light of their underlying psychological vulnerabilities or resilience. The results are expected to cast light on factors that may affect patients’ satisfaction with the treatment. The results of the study confirmed that dissatisfaction with facial appearance prompted acceptance of surgery despite its associated discomfort and hazards. The findings of the study are expected to be useful in better informing clinical psychological interventions with aims of enhancing adjustment and forestalling psychological morbidity through early intervention with individuals coping with facial disfigurement. / published_or_final_version / Psychiatry / Doctoral / Doctor of Philosophy

INTRODUÇÃO: A síndrome de Kabuki (SK) é uma doença genética de etiologia desconhecida, cujas características cardinais são: dismorfismos faciais, baixa estatura de inicio pós-natal, anomalias esqueléticas, déficit cognitivo e alteração de dermatóglifos. Já foram descritas alterações em outros órgãos e sistemas. O diagnóstico é clínico. OBJETIVOS: Descrever os achados clínicos, e a evolução clínica de pacientes com SK. CASUÍSTICA E METODOLOGIA: Foram estudados 12 pacientes, oito do sexo feminino e quatro do sexo masculino, onde foram realizados: anamnese, exame físico, revisão de prontuário, avaliação cardiológica e odontológica, exames de imagem e laboratoriais. RESULTADOS: Todos pacientes tinham: face típica, déficit cognitivo, alterações esqueléticas e persistência de padrão fetal em coxins digitais. As alterações esqueléticas mais freqüentes foram: braquidactilia do quinto dedo, frouxidão ligamentar e luxação de quadril. A baixa estatura foi encontrada em 8/12 pacientes. Oito apresentavam ausência de dentes. Alterações oftalmológicas foram identificadas em sete. Na avaliação da audição, três tinham otites e dois, perda auditiva. Cinco pacientes apresentaram doenças respiratórias. Três pacientes apresentavam cardiopatias, e uma tinha somente alteração eletrocardiográfica. Seis pacientes tiveram dificuldades alimentares nos primeiros anos de vida e cinco, refluxo gastroesofágico. Três pacientes tinham anomalias renais, dois apresentaram enurese noturna e dois criptorquidia. Hipotonia estava presente em cinco pacientes e convulsões em quatro. Hipotireoidismo estava presente em duas pacientes e uma paciente tinha deficiência de hormônio de crescimento. Dois pacientes relataram um episódio de púrpura trombocitopênica. Alterações imunológicas foram identificadas em três pacientes. Anomalias do cromossomo X foram identificadas em duas pacientes. Nenhum paciente faleceu durante o estudo. Dos pacientes com mais de 18 anos, 3/4 tinham baixa estatura e nos pacientes com mais de 10 anos 4/7 tornaram-se obesos. DISCUSSÃO: A maioria de nossos achados foi compatível com a encontrada na literatura. As pacientes com alterações no cromossomo X, apresentavam características de SK e síndrome de Turner, não podendo descartar ou confirmar a coexistência destas duas doenças. CONCLUSÕES: a SK apresenta uma grande variabilidade clínica, devendo seus portadores, ter suporte multidisciplinar. As anomalias renais, cardíacas, imunológicas e esqueléticas, foram responsáveis pelas principais complicações clínicas relatadas / INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to describe the clinical manifestations and the follow-up of patients with Kabuki syndrome. PATIENTS AND METHODS: Twelve patients were studied, eight female and four male, not related, in which anamnesis, physical examination, review of their clinical records, odontological and ophthalmological evaluation, radiological and laboratorial tests, were performed. RESULTS: All patients have: typical face, mental retardation, skeletal abnormalities and presence of fingertip pads. Short stature was present in 8/12 patients. The most frequent skeletal abnormalities were: short fingers, hypotony and hip dislocation. Eight patients have absence of teeth. Ophthalmologic abnormalities were found in seven patients. On hearing evaluation, three patients have recurrent otitis and hearing lost was identified in two patients. Apnea and laryngo malacia was present in one patient. Three patients presented congenital cardiopathy and one patient without cardiopathy had an anomaly at electrocardiography. At the first years of life, six patients had feeding difficulties, with one whom needed a gastrostomy tube and five had gastroesofageal reflux. A kidney and urinary tract malformation was found in three patients, two had nocturnal enuresis, and two had undescended testis. Hypotonia was present in five patients and four reported seizures. Hypothyroidism was present in two patients and one had growth hormone deficiency. Two patients had an episode of thrombocytopenic purpura. Immunologic abnormalities were identified in three patients. Cytogenetic abnormalities of X chromosome were identified in two female patients. During the study, no one patient died. In adult patients, 3/4 had short stature, and, in patients with 10 years or more, 4/7 were obese. DISCUSSION: Most of our findings were compatible with the literature. The patients with X chromosome abnormalities presented characteristics of KS and Turners syndrome and we are not able to make an exact distinction if they have or not both diseases. CONCLUSION: KS has a wide clinical variability and the affected ones should be followed by a multidisciplinary clinic. Renal, cardiac, skeletal and immunological abnormalities are those with most morbidity related by the patients

INTRODUÇÃO: A síndrome de Kabuki (SK) é uma doença genética de etiologia desconhecida, cujas características cardinais são: dismorfismos faciais, baixa estatura de inicio pós-natal, anomalias esqueléticas, déficit cognitivo e alteração de dermatóglifos. Já foram descritas alterações em outros órgãos e sistemas. O diagnóstico é clínico. OBJETIVOS: Descrever os achados clínicos, e a evolução clínica de pacientes com SK. CASUÍSTICA E METODOLOGIA: Foram estudados 12 pacientes, oito do sexo feminino e quatro do sexo masculino, onde foram realizados: anamnese, exame físico, revisão de prontuário, avaliação cardiológica e odontológica, exames de imagem e laboratoriais. RESULTADOS: Todos pacientes tinham: face típica, déficit cognitivo, alterações esqueléticas e persistência de padrão fetal em coxins digitais. As alterações esqueléticas mais freqüentes foram: braquidactilia do quinto dedo, frouxidão ligamentar e luxação de quadril. A baixa estatura foi encontrada em 8/12 pacientes. Oito apresentavam ausência de dentes. Alterações oftalmológicas foram identificadas em sete. Na avaliação da audição, três tinham otites e dois, perda auditiva. Cinco pacientes apresentaram doenças respiratórias. Três pacientes apresentavam cardiopatias, e uma tinha somente alteração eletrocardiográfica. Seis pacientes tiveram dificuldades alimentares nos primeiros anos de vida e cinco, refluxo gastroesofágico. Três pacientes tinham anomalias renais, dois apresentaram enurese noturna e dois criptorquidia. Hipotonia estava presente em cinco pacientes e convulsões em quatro. Hipotireoidismo estava presente em duas pacientes e uma paciente tinha deficiência de hormônio de crescimento. Dois pacientes relataram um episódio de púrpura trombocitopênica. Alterações imunológicas foram identificadas em três pacientes. Anomalias do cromossomo X foram identificadas em duas pacientes. Nenhum paciente faleceu durante o estudo. Dos pacientes com mais de 18 anos, 3/4 tinham baixa estatura e nos pacientes com mais de 10 anos 4/7 tornaram-se obesos. DISCUSSÃO: A maioria de nossos achados foi compatível com a encontrada na literatura. As pacientes com alterações no cromossomo X, apresentavam características de SK e síndrome de Turner, não podendo descartar ou confirmar a coexistência destas duas doenças. CONCLUSÕES: a SK apresenta uma grande variabilidade clínica, devendo seus portadores, ter suporte multidisciplinar. As anomalias renais, cardíacas, imunológicas e esqueléticas, foram responsáveis pelas principais complicações clínicas relatadas / INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to describe the clinical manifestations and the follow-up of patients with Kabuki syndrome. PATIENTS AND METHODS: Twelve patients were studied, eight female and four male, not related, in which anamnesis, physical examination, review of their clinical records, odontological and ophthalmological evaluation, radiological and laboratorial tests, were performed. RESULTS: All patients have: typical face, mental retardation, skeletal abnormalities and presence of fingertip pads. Short stature was present in 8/12 patients. The most frequent skeletal abnormalities were: short fingers, hypotony and hip dislocation. Eight patients have absence of teeth. Ophthalmologic abnormalities were found in seven patients. On hearing evaluation, three patients have recurrent otitis and hearing lost was identified in two patients. Apnea and laryngo malacia was present in one patient. Three patients presented congenital cardiopathy and one patient without cardiopathy had an anomaly at electrocardiography. At the first years of life, six patients had feeding difficulties, with one whom needed a gastrostomy tube and five had gastroesofageal reflux. A kidney and urinary tract malformation was found in three patients, two had nocturnal enuresis, and two had undescended testis. Hypotonia was present in five patients and four reported seizures. Hypothyroidism was present in two patients and one had growth hormone deficiency. Two patients had an episode of thrombocytopenic purpura. Immunologic abnormalities were identified in three patients. Cytogenetic abnormalities of X chromosome were identified in two female patients. During the study, no one patient died. In adult patients, 3/4 had short stature, and, in patients with 10 years or more, 4/7 were obese. DISCUSSION: Most of our findings were compatible with the literature. The patients with X chromosome abnormalities presented characteristics of KS and Turners syndrome and we are not able to make an exact distinction if they have or not both diseases. CONCLUSION: KS has a wide clinical variability and the affected ones should be followed by a multidisciplinary clinic. Renal, cardiac, skeletal and immunological abnormalities are those with most morbidity related by the patients

Le rat Dumbo présente un aspect malformatif évoquant certains syndromes crânio-faciaux humains. La compréhension du phénotype Dumbo pourrait expliquer les événements cellulaires et moléculaires à l’origine de ces syndromes. Le données recueillies chez le rat Dumbo et comparées à celles du rat Wistar sont susceptibles de constituer de précieuses informations éventuellement transposables à l’espèce humaine.<p><p>La première étape de cette étude a consisté en des analyses morphologiques et morphométriques afin de vérifier les perturbations morphologiques communes entre les rats Dumbo et les syndromes malformatifs humains :la brièveté des os zygomatique, maxillaire, mandibulaire et la position basse des oreilles. Ces analyses ont été réalisées sur les squelettes embryonnaires âgés de 16 jours à 21 jours de rats Dumbo et Wistar à l’aide d’une coloration in toto au Bleu Alcian – Alizarine. La deuxième étape de cette étude consistait en une analyse cytogénétique. Pour ce faire, nous avons établi le caryotype du rat Dumbo et nous l’avons comparé avec le caryotype du rat Wistar. L’étape suivante fut de procéder à l’analyse histologique des malformations crânio-faciales chez le rat Dumbo en observant la chondrogenèse pendant la morphogenèse crânio-faciale. Enfin, l’examen de l’expression des gènes Msx1 sens (S) ,Msx1 antisens (AS) et Dlx1 dans l’extrémité céphalique des rats Dumbo a été réalisé par les techniques de RT–PCR (Reverse Transcription Polymerase Chain Reaction method). Des estimations semi-quantitatives ont été validées en utilisant des dilutions ADNc du rat Wistar. Des densitométries de la densité d’amplicons fluorescence ont été réalisées à l’aide du logiciel VilberLourmat Bio1D software.<p><p>Les résultats obtenus ont permis de caractériser de manière précise les malformations crânio-faciales chez le rat Dumbo.<p> <p>1-\ / Doctorat en Sciences biomédicales et pharmaceutiques / info:eu-repo/semantics/nonPublished

The topic of cleft lip and/or palate is widely researched in literature. However no research to date has focused on mothers' experiences raising twins when one twin is born with a cleft lip and/or palate. This qualitative study aims to explore the unigue experiences of these mothers. The epistemological foundations of this study are postmodern, social constructionist and systemic. In accordance with a gualitative methodology data was collected in the form of the participants' personal written stories. This was done from a post-modern paradigm, from a systemic perspective. Themes that were extracted from the stories according to thematic content analysis, not only reflect the experiences of mothers raising twins when one twin is born with a cleft lip and/or palate, they also provide an in-depth understanding of these mothers' experiences and unique situations. Recommendations for future research are offered. / Psychology / M.A. (Clinical Psychology)

The topic of cleft lip and/or palate is widely researched in literature. However no research to date has focused on mothers' experiences raising twins when one twin is born with a cleft lip and/or palate. This qualitative study aims to explore the unigue experiences of these mothers. The epistemological foundations of this study are postmodern, social constructionist and systemic. In accordance with a gualitative methodology data was collected in the form of the participants' personal written stories. This was done from a post-modern paradigm, from a systemic perspective. Themes that were extracted from the stories according to thematic content analysis, not only reflect the experiences of mothers raising twins when one twin is born with a cleft lip and/or palate, they also provide an in-depth understanding of these mothers' experiences and unique situations. Recommendations for future research are offered. / Psychology / M.A. (Clinical Psychology)