Discussion surrounds the question as to whether criteria for generalized anxiety disorder (GAD) should change, particularly in youth. This study examines the effects of possible criteria changes on GAD prevalence and clinical correlates. DSM-IV GAD was assessed using the M-CIDI in a community sample of adolescents and young adults. Diagnostic thresholds were modified in two age spans (9–20 and 21–34 years) using a person-by-year data file (N = 38,534 cases). Relaxing the duration or excessiveness criteria led to the most pronounced changes in GAD prevalence, while relaxing frequency, uncontrollability, or associated-symptom criteria had smaller effects. A lower duration requirement increased rates more in older than younger age spans. Opposite effects occurred for changes in associated-symptoms or clinical-significance criteria. Broader GAD definitions identified cases in both age spans that appeared mostly milder than DSM-IV cases but that still differed from non-GAD cases in various clinical factors and validators. Developmental aspects require stronger consideration in future diagnostic systems.

A presente dissertação tem o objetivo de discutir a proposta dos critérios diagnósticos da CID-11 para Incongruência de Gênero e comparar as diretrizes dos manuais diagnósticos DSM-5 e CID-10 para Disforia de Gênero e Transtorno de Identidade de Gênero, respectivamente. A Organização Mundial da Saúde (OMS) está em processo de revisão da Classificação Internacional de Doenças (CID). Diferentemente do sistema de classificação vigente (CID-10), as modificações propostas pela CID-11 no que diz respeito à condição transexual são norteadas pela compreensão de que esta não é doença mental e que o acesso à saúde desta população necessita ser ampliado. O artigo derivado desta dissertação compara os critérios nos manuais diagnósticos existentes, o DSM-5 e da CID-10, em uma amostra brasileira de pessoas transexuais que procuraram serviços de saúde especificamente para a transição física. Este é um estudo transversal multicêntrico que inclui uma amostra de 103 indivíduos que procuraram os serviços em um dos dois principais centros de referência no Brasil especializados em identidade de gênero. O método da pesquisa consiste na aplicação, por profissionais previamente treinados, de uma entrevista estruturada desenvolvida pelo WHO´s Field Study Coordination Group for ICD-11 Mental and Behavioural Disorders que contempla os critérios diagnósticos. Os resultados revelam que, embora exista desacordo teórico nos critérios há uma sobreposição entre os dois sistemas quanto à confirmação do diagnóstico, com o DSM-5 mais inclusivo. Adicionalmente, a média do tempo de espera para ter acesso a este tipo de serviço é de quase uma década. Nossos achados confirmam a ideia de que há pouco consenso quanto aos critérios diagnósticos dos comportamentos transgêneros, considerando a diversidade de contextos sociais e culturais e que seguem com pouca diferenciação tanto etiológica quanto clínica para fins diagnósticos. / The current work aims to discuss the proposed diagnostic criteria of ICD-11 for Gender Incongruence and compare the diagnostic criteria of DSM-5 and ICD-10 Gender Dysphoria and Gender Identity Disorder, respectively. The World Health Organization (WHO) is reviewing the International Classification of Diseases (ICD). Despite the existing classification system (ICD-10), changes proposed by ICD-11 concerning transgender condition are guided by the understanding that it is not a mental illness and that this population needs health service access to be expanded. The study derived from this work aim to compare the criteria in the existing diagnostic manuals, the DSM-5 and the ICD-10, among a Brazilian sample of transgender persons who sought health services specifically for physical transition. This is a multicenter cross-sectional study that includes a sample of 103 subjects who sought services for gender identity disorder in one of two main reference centers in Brazil. The research method consists of applying a structured interview, which is comprised of the diagnostic criteria from the two manuals. The results reveal that although the theoretical disagreement in the criteria, there is an overlap among the two systems as diagnosis confirmation, to the DSM-5 more inclusive. Additionally, the average waiting time to access this type of service is nearly a decade. Although there is not a consensus concerning such on transgenderism in the diversity of social and cultural contexts, the findings confirm previous impression that despite efforts to determine the diagnostic settings, they follow slightly different as to etiology and different clinical presentations of this condition.

Orientador: Maria Aparecida Marchesan Rodrigues / Resumo: Introdução: A Displasia Neuronal Intestinal, tipo B (DNI-B) é uma doença neuromuscular gastrointestinal caracterizada por alterações complexas do sistema nervoso entérico. Seu diagnóstico depende da análise histopatológica de biópsias do reto, com mudanças dos critérios diagnósticos ao longo dos anos, o que dificulta a prática diagnóstica. O Consenso de Frankfurt, 1990, estabeleceu critérios histológicos qualitativos para diagnóstico de DNI-B, como hiperganglionose e hiperplasia do plexo nervoso submucoso. Meier-Ruge et al. 2004, 2006, definiu o diagnóstico de maneira quantitativa: mais de 20% de gânglios nervosos gigantes na submucosa, com mais de 8 neurônios cada, em 25 gânglios examinados, e em crianças maiores de 1 ano. Objetivos: Analisar as características morfológicas do sistema nervoso entérico em pacientes com DNI-B segundo os critérios do Consenso de Frankfurt de 1990, e testar a aplicabilidade dos critérios numéricos propostos por Meier-Ruge et al 2004. Pacientes e Métodos: Foram analisadas retrospectivamente peças cirúrgicas de cólon distal de 29 pacientes, com idade de 0 a 16 anos, com diagnóstico de DNI-B, em cortes histológicos processados para histologia convencional pela hematoxilina e eosina (H&E) e para imuno-histoquímica da calretinina. Resultados: Apenas 1 paciente contemplou estes critérios numéricos. Houve imunopositividade para calretinina nos neurônios, porém a contagem de neurônios foi menor em relação ao H&E (p=0,002). Não houve diferenças significa... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Introduction: Intestinal Neuronal Dysplasia type B (INDB) is a gastrointestinal neuromuscular disease characterized by complex changes in the enteric nervous system. The diagnosis depends on the histopathological analysis of rectal biopsies and the diagnostic criteria have changed over the years, making it difficult to diagnostic practice. The Frankfurt Consensus, 1990, established qualitative criteria for the histological diagnosis of INDB, such as gigant ganglia and hyperplasia of submucosal nerves. Meier-Ruge et al. 2004, 2006, defined quantitative criteria: over 20% of giant ganglia, with more than 8 nerve cells each, on 25 ganglia examined, and in children older than one year. Objectives: Analyze the morphological characteristics of the enteric nervous system in patients with INDB according to the Frankfurt Consensus Criteria 1990 and test the applicability of the numerical criteria proposed by Meier-Ruge et al. 2004. Patients and Methods: Surgical specimens of distal colon from 29 patients, aged 0-16 years old, diagnosed with INDB, in histological sections processed for conventional histology by hematoxylin and eosin (H&E) and for immunohistochemistry of calretinin, were retrospectively analyzed. Results: Only one patient met these numerical criteria. There was immunostaining for calretinin in neurons but the neurons count was lower in relation to H&E (p=0.002). There were no significant differences between the age groups of children younger and older than 1 year old in... (Complete abstract click electronic access below) / Mestre

A presente dissertação tem o objetivo de discutir a proposta dos critérios diagnósticos da CID-11 para Incongruência de Gênero e comparar as diretrizes dos manuais diagnósticos DSM-5 e CID-10 para Disforia de Gênero e Transtorno de Identidade de Gênero, respectivamente. A Organização Mundial da Saúde (OMS) está em processo de revisão da Classificação Internacional de Doenças (CID). Diferentemente do sistema de classificação vigente (CID-10), as modificações propostas pela CID-11 no que diz respeito à condição transexual são norteadas pela compreensão de que esta não é doença mental e que o acesso à saúde desta população necessita ser ampliado. O artigo derivado desta dissertação compara os critérios nos manuais diagnósticos existentes, o DSM-5 e da CID-10, em uma amostra brasileira de pessoas transexuais que procuraram serviços de saúde especificamente para a transição física. Este é um estudo transversal multicêntrico que inclui uma amostra de 103 indivíduos que procuraram os serviços em um dos dois principais centros de referência no Brasil especializados em identidade de gênero. O método da pesquisa consiste na aplicação, por profissionais previamente treinados, de uma entrevista estruturada desenvolvida pelo WHO´s Field Study Coordination Group for ICD-11 Mental and Behavioural Disorders que contempla os critérios diagnósticos. Os resultados revelam que, embora exista desacordo teórico nos critérios há uma sobreposição entre os dois sistemas quanto à confirmação do diagnóstico, com o DSM-5 mais inclusivo. Adicionalmente, a média do tempo de espera para ter acesso a este tipo de serviço é de quase uma década. Nossos achados confirmam a ideia de que há pouco consenso quanto aos critérios diagnósticos dos comportamentos transgêneros, considerando a diversidade de contextos sociais e culturais e que seguem com pouca diferenciação tanto etiológica quanto clínica para fins diagnósticos. / The current work aims to discuss the proposed diagnostic criteria of ICD-11 for Gender Incongruence and compare the diagnostic criteria of DSM-5 and ICD-10 Gender Dysphoria and Gender Identity Disorder, respectively. The World Health Organization (WHO) is reviewing the International Classification of Diseases (ICD). Despite the existing classification system (ICD-10), changes proposed by ICD-11 concerning transgender condition are guided by the understanding that it is not a mental illness and that this population needs health service access to be expanded. The study derived from this work aim to compare the criteria in the existing diagnostic manuals, the DSM-5 and the ICD-10, among a Brazilian sample of transgender persons who sought health services specifically for physical transition. This is a multicenter cross-sectional study that includes a sample of 103 subjects who sought services for gender identity disorder in one of two main reference centers in Brazil. The research method consists of applying a structured interview, which is comprised of the diagnostic criteria from the two manuals. The results reveal that although the theoretical disagreement in the criteria, there is an overlap among the two systems as diagnosis confirmation, to the DSM-5 more inclusive. Additionally, the average waiting time to access this type of service is nearly a decade. Although there is not a consensus concerning such on transgenderism in the diversity of social and cultural contexts, the findings confirm previous impression that despite efforts to determine the diagnostic settings, they follow slightly different as to etiology and different clinical presentations of this condition.

Le syndrome CHARGE est une association malformative rare due à une mutation du gène CHD7 dans 60 à 90% des cas. L'objectif de ce travail était d'en décrire les éléments cliniques et moléculaires afin d'optimiser la prise en charge de patients atteints d'un handicap multisensoriel lourd.Le diagnostic anténatal en est difficile et l'étude de 40 fœtus a permis d'affiner la description du phénotype, de décrire de nouveaux éléments cliniques et finalement de proposer un ajustement des critères diagnostiques chez le fœtus.L'étude endocrinienne de 42 patients confirme la présence d'un hypogonadisme hypogonadotrope dans 97% des cas. Souvent méconnu et non traité il peut avoir des conséquences délétères sur la qualité de vie. Nous proposons qu'il soit reconnu comme critère majeur du syndrome.L'étude clinique d'une cohorte française de 119 patients a montré que la surdité et l'atteinte des canaux semi circulaires sont les éléments les plus fréquents du syndrome (suivis de l'atteinte hypophysaire, de l'arhinencéphalie et des anomalies de l'oreille externe), et les seuls significativement associés à la présence d'une mutation dans CHD7. Une étude approfondie des données issues de cette étude est en cours.Sur le plan moléculaire, alors que la plupart des mutations identifiées sont des mutations tronquantes privées apparues de novo, nous avons identifié 4 variants au niveau de l'intron 25, récurrents pour certains, dont l'interprétation était délicate. Leur étude in silico puis par une technique de minigène a permis de mettre en évidence une configuration particulière des séquences impliquées dans l'épissage de l'exon 26 (point de branchement distant) et de démontrer leur pathogénicité. / CHARGE syndrome is a rare disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% to 90% of cases. The aim of this study was to improve the knowledge regarding molecular and clinical aspects of the syndrome in order to optimize the management of these patients with severe disability. Antenatal diagnosis remains challenging in many instances and a detailed clinicopathological survey in a series of 40 fetuses allowed us to refine the clinical description of CHARGE syndrome in fetuses, describe some novel features and set up diagnostic criteria. An endocrinologic study of 42 patients showed a hypogonadotrophic hypogonadism in 97% of cases. For this reason, it should be considered as a major symptom of the syndrome. An early screening should lead to a hormonal replacement therapy which dramatically impacts the condition.A study of a French cohort of 119 patients found that deafness and semi-circular canals hypoplasia were the most frequent symptoms (followed by hypogonadotrophic hypogonadism, arhinencephaly and external ears anomalies) and the only features statistically associated with a mutation in the CHD7 gene. A detailed study of the data is still going on.The syndrome is mainly due to de novo and private truncating mutations of the CHD7 gene but we report an intriguing hot spot of intronic mutations located in IVS25. Combining computational in silico analysis and ex vivo minigene assays, we explained this mutation hot spot by a particular genomic context, including a distant branch point, and confirmed the pathogenicity of these mutations.

Discussion surrounds the question as to whether criteria for generalized anxiety disorder (GAD) should change, particularly in youth. This study examines the effects of possible criteria changes on GAD prevalence and clinical correlates. DSM-IV GAD was assessed using the M-CIDI in a community sample of adolescents and young adults. Diagnostic thresholds were modified in two age spans (9–20 and 21–34 years) using a person-by-year data file (N = 38,534 cases). Relaxing the duration or excessiveness criteria led to the most pronounced changes in GAD prevalence, while relaxing frequency, uncontrollability, or associated-symptom criteria had smaller effects. A lower duration requirement increased rates more in older than younger age spans. Opposite effects occurred for changes in associated-symptoms or clinical-significance criteria. Broader GAD definitions identified cases in both age spans that appeared mostly milder than DSM-IV cases but that still differed from non-GAD cases in various clinical factors and validators. Developmental aspects require stronger consideration in future diagnostic systems.

No description available.

This thesis focuses on the activities of the Special Education Centre, as provided to parents of children and pupils with autistic spectrum disorders in the region of Cheb, Czech Republic. The theoretical part summarizes - using the specialized literature available - basic information on the issue of autism, its complex assessment and diagnosing, and special education care with focus on the same. It specifies the forms of consulting services in the Czech Republic and the special education centre's services aimed at pupils with autistic spectrum disorders. The research part of the thesis contains the characteristics of the examined array and using a specific questionnaire, it collects information on the satisfaction of parents of pupils with autistic spectrum disorders with the special education centre's offer of services. It also analyses the degree of implementation of the individual strategies and maps out the possibilities of expanding the offer of special education care.

Die Rechenstörung ist definiert als Unfähigkeit, trotz normaler Intelligenz und angemessener Beschulung grundlegende Rechenfertigkeiten zu erwerben. Über dieses Störungsbild gibt es nur wenige wissenschaftliche Daten. Die vorliegende Studie hatte zum Ziel, epidemiologische sowie klinische und neuropsychologische Daten zur Rechenstörung zu erheben. In einem ersten Abschnitt wurden 182 zufällig ausgewählte Drittklässler einer Großstadtpopulation mit standardisierten Leistungstests untersucht. Probanden mit einem erheblich schlechteren Ergebnis in Mathematik als in Rechtschreibung wurden als solche mit dem Verdacht auf eine Rechenstörung identifiziert. Wir fanden eine Prävalenz von 6,59 % (n=12). Der zweite Teil der Studie hatte eine umfassende klinisch-neurologische und neuropsychologische Diagnostik zur Überprüfung der Verdachtsdiagnose der Probanden zum Inhalt. Nur fünf der Eltern der zwölf identifizierten Probanden stimmten dieser weiterführenden Diagnostik zu. Von diesen fünf Probanden konnten bei vier umschriebene Störungen der Rechenfertigkeiten diagnostiziert werden. Jedoch nur einer erfüllte die diagnostischen Kriterien der ICD-10 für eine Rechenstörung. Die erhobenen Daten werden verglichen mit denen einer anderen Studie der Arbeitsgruppe mit einer repräsentativen Stichprobe aus einem ländlichen Raum. Zwar finden sich aufgrund zeitlicher Unterschiede und unterschiedlicher zur Anwendung gebrachter Testinstrumente erhebliche Unterschiede in den Ergebnissen der standardisierten Leistungstests, die Prävalenz für Rechenstörungen ist jedoch in beiden Studien gleich. Auf der Grundlage einer Übersicht bisher veröffentlichter Forschungsergebnisse und der erhobenen Daten wird die Diagnose der Rechenstörung diskutiert. Es wird geschlussfolgert, dass sie trotz teilweise unscharfer Definition als medizinische Entität valide ist. Der Vorzug der Verwendung von deskriptiv-qualitativen diagnostischen Kriterien an Stelle von quantitativen Differenzen in standardisierten Leistungstests wird betont, ebenso wie die Erfordernis einer international einheitlichen Terminologie. Die Notwendigkeit weiterer Forschung auf dem Gebiet wird unterstrichen. / The Specific disorder of arithmetical skills is defined as an individual's unability to acquire arithmetical skills in spite of normal intelligence and adequate mathematical education. There is a considerable lack of data on the condition. The present study attempts to collect epidemiological as well as clinical and neuropsychological data. In a first step, randomly chosen 182 third-graders of a city population were screened for a suspected Specific disorder of arithmetical skills, defined by a significantly worse mathematics compared to spelling achievement. We found the prevalence of the condition to be 6.59 % (n=12). In the second step we attempted to validate the suspected Specific disorder of arithmetical skills with a thorough clinico-neurological and neuropsychological test battery. Only five of the parents of the twelve probands agreed to further testing. Of those five, four showed below-average performances in at least one area of mathematical abilities. However, only one proband met the diagnostic criteria for the condition of the ICD-10. The study compares our data with those of another study by our group of a rural population sample. Due to temporal differences and different screening instruments, the screening test results are quite dissimilar, yet the prevalence rate for the condition is equal in both studies. Considering a review of the literature on the field as well as our own data the diagnosis of the Specific disorder of arithmetical skills is discussed. It is concluded that it has validity as a medical condition, but that is currently ill-defined. Diagnostic criteria employing qualitative aspects of the condition rather than quantitative discrepancies in standardized tests are proposed. An universal terminology of the condition is suggested and the need for further research emphasized.

Magister Psychologiae - MPsych / The aim of the present study was to determine whether it was possible to identify changes in levels of postpartum depression and maternal adjustment and attitude in primiparae before and after birth. It aimed, furthermore, at assessing certain risk factors that could provide an understanding of the etiological factors (causes, determinants) influencing postpartum levels of depression and maternal adjustment and attitude. The study focused on risk factors among married and unmarried primiparae (first time mothers), with a view to establishing vulnerability profiles of the respective groups. The specific risk factors that formed part of the investigation were social support, personality (neuroticism) and life events. All the subjects investigated were recruited from the Mitchells Plain Maternity and Obstetrics Unit. A sample of 70 subjects, in the third trimester of pregnancy, voluntarily participated in the first part of this study. Of these, 26 belonged to the married group and 44 belonged to the unmarried group. As a result of the attrition factor, 57 subjects constituted the final sample for analysis. The final sample comprised 20 married and 37 unmarried subjects. Subjects were followed up four to eight weeks postpartum. Results revealed that there were no significant changes in levels of depression between the married and unmarried groups, either before or after delivery. Of significance was that with the event of birth, the depression scores amongst women rated high in neuroticism decreased significantly. Married women with high social support satisfaction scores were found to have low depression scores. Similarly, married women who experienced fewer negative life events had lower levels of depression than did the unmarried women who experienced fewer negative life events. The maternal adjustment and attitude scores did not change before or after birth, except in the married group. The married group showed a significant increase in scores on the maternal adjustment and attitude scores after the birth of the child. Regarding personality (neuroticism), the high neuroticism scorers had significantly lower maternal adjustment and attitude than did the low neuroticism scorers. As was the case with social support and depression, married women with high social support had a higher maternal adjustment and attitude. A significant effect of negative life events on maternal adjustment and attitude was only found for the married women (after delivery) who experienced a low number of life events. A stepwise multiple regression analysis was performed, in order to yield a model in which the depression and maternal adjustment and attitude scores would be predicted by risk factors. The finding of this analysis for both depression and maternal attitude and adjustment was not significant. Social Identity theory was suggested as a possible interpretation of these results. Future research which views social identity as a factor in understanding postpartum depression and maternal adjustment and attitude has been proposed .