Purpose: In the present study, we conducted a systematic review to investigate the core features of the definition of dyslexia across different disciplines according to their associated professional organizations and published research in order to evaluate the presence and type of inconsistencies within and across disciplines in how dyslexia is defined. Method: Definition statements of dyslexia from professional organizations in medicine, education, speech-language pathology, psychology, and the International Dyslexia Association were collected via scope of practice guidelines or via the organization's official website. Using a database with a wide disciplinary reach, we collected 764 of the most cited articles from 2000-2020 with subjects that were children formally identified with dyslexia. We created a coding scheme to examine specific core features of each article and professional organization's definition of dyslexia. We completed data analysis regarding the core features of definitions per organization and journal article discipline. Results: We report descriptive results for dyslexia definition statements from professional organizations and the collected articles. Chi-square tests of independence were conducted between each of the identified core features and professional discipline. We find statistically significant consistencies and inconsistencies in how the definition of dyslexia is reported across disciplines journals. Core features of dyslexia that are reported differently across disciplines include: neurobiological, genetic, normal intelligence, reading disorder, unrelated to environmental influences, word reading deficits, and visual processing deficits. Core features of dyslexia that are equally included as a characteristic of dyslexia are phonological deficits and that dyslexia is a learning disability. Core features that are equally not included as a characteristic of dyslexia included a spelling deficit, need for an IQ discrepancy, that dyslexia is a language-based disorder, or motor processing deficit. Conclusion: Although this study confirms the presence of some inconsistencies in the core features of how dyslexia is defined across different disciplines, other encouraging consistencies were found. Namely, across all disciplines researchers appear to acknowledge that dyslexia is a phonological deficit that doesn't require the presence of an IQ discrepancy. Future work should further analyze the specific diagnostic criteria used to classify children with dyslexia and whether such criteria vary across disciplines.

A consideração da idade de início de sintomas, como parte do diagnóstico de TDAH, é controversa e tem sido um tema revisitado com o surgimento das novas classificações de Psiquiatria. O objetivo deste estudo é comparar pacientes com sintomas de TDAH de início precoce e tardio em termos de características neuropsicológicas e de personalidade. Pacientes adultos com TDAH (n = 415) foram avaliados no ambulatório de TDAH do Hospital de Clínicas de Porto Alegre, Brasil. O processo de diagnóstico de TDAH e comorbidades foi baseado nos critérios do DSM-IV. A comparação entre os dois grupos de idade de início (antes de 7; n = 209 e de 7 a 12 anos; n = 206) foi realizada com ANOVA, seguido de análises de regressão Stepwise forward para restringir o número de comparações e acessar o possível efeito de confundidores múltiplos. Adultos com TDAH de início precoce apresentam escores mais altos em busca de novidade em ambas as análises (respectivamente p = 0,016 e p = 0,002), mas as características cognitivas e de atenção são similares em comparação com o grupo de início tardio. Estes dados acrescentam evidências anteriores de que apesar de um perfil mais externalizante do TDAH de início precoce, o desempenho geral é semelhante, reforçando a necessidade da conscientização e inclusão deste grupo nos critérios diagnósticos do DSM-V. / The consideration of age of onset of impairment as part of the ADHD diagnosis is controversial and has been a revisited issue with the emergence of the new classifications in Psychiatry. The aim of this study is to compare patients with early and late onset of ADHD impairment in terms of neuropsychological and personality characteristics. Adult patients with ADHD (n=415) were evaluated in the ADHD outpatient program at Hospital de Clínicas de Porto Alegre, Brazil. The diagnostic process for ADHD and comorbidities was based on DSM-IV criteria. The comparison between the two age of onset groups (before 7; n=209 or from 7 to 12 years; n=206) was performed with ANOVA, followed by Stepwise forward regression analyses to restrict the number of comparisons and access the possible effect of multiple confounders. Patients with early onset ADHD present higher scores in novelty seeking in both analyses (respectively p = 0.016 and p = 0.002), but similar cognitive and attention features as compared with the late onset group. These data add to previous evidence that despite a more externalizing profile of early onset ADHD, the overall performance is similar reinforcing the need for awareness and inclusion of the late onset group in DSM-V diagnostic criteria.

Submitted by Simone Antunes Terra (simoneaterra@gmail.com) on 2016-03-03T14:12:56Z No. of bitstreams: 1 Dissertação para Mestrado pós defesa.pdf: 1735647 bytes, checksum: fb9582adc999dfc3e76bf360a3409af1 (MD5) / Approved for entry into archive by Sandra Manzano de Almeida (smanzano@marilia.unesp.br) on 2016-03-04T14:18:49Z (GMT) No. of bitstreams: 1 terra_sa_me_bot.pdf: 1735647 bytes, checksum: fb9582adc999dfc3e76bf360a3409af1 (MD5) / Made available in DSpace on 2016-03-04T14:18:49Z (GMT). No. of bitstreams: 1 terra_sa_me_bot.pdf: 1735647 bytes, checksum: fb9582adc999dfc3e76bf360a3409af1 (MD5) Previous issue date: 2016-03-01 / 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 significativas entre os grupos etários de crianças menores e maiores de 1 ano em relação à hiperganglionose (p=0,789), número de neurônios (p=0,359), gânglios com sinais de imaturidade (p=0,664) e neurônios hipogênicos (p>0,999). Conclusões: Os critérios numéricos recomendados em cortes de 15µm, corados por painel histoquímico específico, apresentam aplicabilidade limitada quando transpostos à análise histopatológica convencional. Houve concordância pobre nos critérios analisados entre a H&E e a calretinina. Em relação à idade, nosso estudo mostrou que crianças maiores de 1 ano podem apresentar os mesmos aspectos histológicos de imaturidade neuronal que crianças menores de 1 ano, questionando a necessidade de um critério de idade para o diagnóstico da DNI-B. / 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 relation to hyperganglionosis (p=0.789), number of neurons (p=0.359), ganglion with immaturity (p=0.664) and hypogenic neurons (p>0.999). Conclusions: The numerical criteria recommended for 15μm cut, stained with specific histochemical panel, have limited applicability when transferred to conventional histopathology. There was poor agreement on the criteria analyzed between H&E and calretinin. Regarding the age, our study showed that children older one year old may present the same histological features of neuronal immaturity as children younger one year old, challenging the need for an age criterion for the diagnosis of INDB.

A consideração da idade de início de sintomas, como parte do diagnóstico de TDAH, é controversa e tem sido um tema revisitado com o surgimento das novas classificações de Psiquiatria. O objetivo deste estudo é comparar pacientes com sintomas de TDAH de início precoce e tardio em termos de características neuropsicológicas e de personalidade. Pacientes adultos com TDAH (n = 415) foram avaliados no ambulatório de TDAH do Hospital de Clínicas de Porto Alegre, Brasil. O processo de diagnóstico de TDAH e comorbidades foi baseado nos critérios do DSM-IV. A comparação entre os dois grupos de idade de início (antes de 7; n = 209 e de 7 a 12 anos; n = 206) foi realizada com ANOVA, seguido de análises de regressão Stepwise forward para restringir o número de comparações e acessar o possível efeito de confundidores múltiplos. Adultos com TDAH de início precoce apresentam escores mais altos em busca de novidade em ambas as análises (respectivamente p = 0,016 e p = 0,002), mas as características cognitivas e de atenção são similares em comparação com o grupo de início tardio. Estes dados acrescentam evidências anteriores de que apesar de um perfil mais externalizante do TDAH de início precoce, o desempenho geral é semelhante, reforçando a necessidade da conscientização e inclusão deste grupo nos critérios diagnósticos do DSM-V. / The consideration of age of onset of impairment as part of the ADHD diagnosis is controversial and has been a revisited issue with the emergence of the new classifications in Psychiatry. The aim of this study is to compare patients with early and late onset of ADHD impairment in terms of neuropsychological and personality characteristics. Adult patients with ADHD (n=415) were evaluated in the ADHD outpatient program at Hospital de Clínicas de Porto Alegre, Brazil. The diagnostic process for ADHD and comorbidities was based on DSM-IV criteria. The comparison between the two age of onset groups (before 7; n=209 or from 7 to 12 years; n=206) was performed with ANOVA, followed by Stepwise forward regression analyses to restrict the number of comparisons and access the possible effect of multiple confounders. Patients with early onset ADHD present higher scores in novelty seeking in both analyses (respectively p = 0.016 and p = 0.002), but similar cognitive and attention features as compared with the late onset group. These data add to previous evidence that despite a more externalizing profile of early onset ADHD, the overall performance is similar reinforcing the need for awareness and inclusion of the late onset group in DSM-V diagnostic criteria.

A consideração da idade de início de sintomas, como parte do diagnóstico de TDAH, é controversa e tem sido um tema revisitado com o surgimento das novas classificações de Psiquiatria. O objetivo deste estudo é comparar pacientes com sintomas de TDAH de início precoce e tardio em termos de características neuropsicológicas e de personalidade. Pacientes adultos com TDAH (n = 415) foram avaliados no ambulatório de TDAH do Hospital de Clínicas de Porto Alegre, Brasil. O processo de diagnóstico de TDAH e comorbidades foi baseado nos critérios do DSM-IV. A comparação entre os dois grupos de idade de início (antes de 7; n = 209 e de 7 a 12 anos; n = 206) foi realizada com ANOVA, seguido de análises de regressão Stepwise forward para restringir o número de comparações e acessar o possível efeito de confundidores múltiplos. Adultos com TDAH de início precoce apresentam escores mais altos em busca de novidade em ambas as análises (respectivamente p = 0,016 e p = 0,002), mas as características cognitivas e de atenção são similares em comparação com o grupo de início tardio. Estes dados acrescentam evidências anteriores de que apesar de um perfil mais externalizante do TDAH de início precoce, o desempenho geral é semelhante, reforçando a necessidade da conscientização e inclusão deste grupo nos critérios diagnósticos do DSM-V. / The consideration of age of onset of impairment as part of the ADHD diagnosis is controversial and has been a revisited issue with the emergence of the new classifications in Psychiatry. The aim of this study is to compare patients with early and late onset of ADHD impairment in terms of neuropsychological and personality characteristics. Adult patients with ADHD (n=415) were evaluated in the ADHD outpatient program at Hospital de Clínicas de Porto Alegre, Brazil. The diagnostic process for ADHD and comorbidities was based on DSM-IV criteria. The comparison between the two age of onset groups (before 7; n=209 or from 7 to 12 years; n=206) was performed with ANOVA, followed by Stepwise forward regression analyses to restrict the number of comparisons and access the possible effect of multiple confounders. Patients with early onset ADHD present higher scores in novelty seeking in both analyses (respectively p = 0.016 and p = 0.002), but similar cognitive and attention features as compared with the late onset group. These data add to previous evidence that despite a more externalizing profile of early onset ADHD, the overall performance is similar reinforcing the need for awareness and inclusion of the late onset group in DSM-V diagnostic criteria.

Abstract The symptom complex originating from the inner ear, known as Meniere's disease, was studied especially from the epidemiologic point of view. A total of 442 patients' charts were retrospectively analysed in several hospital districts of Finland. The period of 1992-1996 was covered. The main focus was on the epidemiological assessment of the disease in Finland. To clarify the epidemiological figures, the validity of the diagnostic assessment was examined using the latest guidelines (1995) of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology - Head and Neck Surgery (AAO-HNS) as a gold standard. The diagnostic tools used in the different hospitals were documented and evaluated, and diagnostic accuracy at the different levels of the health care system was evaluated. The clinical picture of Meniere's disease was characterised, and the therapeutic modalities used were evaluated. The audiometric configurations were classified according to two principles. The prognosis of hearing impairment was specified by creating a multivariable model. Half of the patients (N = 221) fulfilled the AAO-HNS criteria for definite disease. The prevalence and incidence of definite cases of Meniere's disease appeared to be lower in Finland than could be expected based on previous international studies. A prevalence of at least 43 per 100,000 and an average annual incidence of 4.3 per 100,000 were obtained. The prevalence rates in the catchment areas of the university and central hospitals did not differ statistically, but a significant (p < 0.001) difference was found between the average prevalences in the northern and southern Finnish hospital districts. Fluctuation of hearing in repeated audiometric measurements appeared to be a highly sensitive (94%) diagnostic test to detect definite Meniere's disease. According to the multivariable model created in this study, the hearing impairment in Meniere's disease affects equally males and females, and the deterioration is about 1 dB per year due to the duration of the disease and 0.5 dB per year due to aging. The disease was controlled conservatively in 69% of the cases. A gently sloping high-frequency audiometric pattern was most prevalent according to the EU Work Group classification and a flat pattern according to the mid-frequency-based classification. The variability of diagnostic criteria, diagnostic tools and therapeutic modalities shows an evident need for up-to-date therapy recommendations for Meniere's disease in Finland.

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease characterized by a pathognomonic distribution of hyperphosphorylated tau accumulations in neurons, astrocytes, and cell processes, situated around vessels at the depths of cortical sulci. Case reports of CTE pathology exhibit a common exposure to repetitive head impacts (RHI), suggesting that RHI are a necessary factor in the disease’s etiology. Currently, it is only possible to definitively diagnose CTE after death using histopathological techniques and consensus-based neuropathological diagnostic criteria recently established by the National Institute of Health and National Institute of Neurological Disorders and Stroke. Though considerable progress has been made in characterizing the neuropathology of CTE, less is known about the clinical aspects of the disease. Specifically, additional research is needed to identify disease-specific clinical manifestations, clinicopathological correlations, and a means of diagnosis during life, all of which are critical to developing future epidemiological studies, preventative measures, and treatment trials. Moreover, it is not yet known which specific aspects of RHI exposure (type, frequency, duration) are causally linked to developing clinically meaningful neurological impairments or CTE neuropathology, nor have studies identified risk-modifying factors, such as genotype (e.g. APOE). The objective of this dissertation’s published works was to systematically address these gaps in knowledge. First, to define a common clinical presentation of CTE, we conducted a retrospective analysis of medical records and semi-structured next-of-kin reports of 36 former athletes with autopsy-confirmed CTE without comorbid neurodegenerative disease. We then published clinical diagnostic criteria for CTE based on a systematic review of clinical features exhibited in 202 former athlete cases and a pooled analysis of 83 neuropathologically confirmed CTE cases. In subsequent analyses, we operationalized clinical criteria to investigate specific clinicopathological associations between tau, amyloid beta, age, APOE genotype, and clinical outcomes and utilized the clinical criteria to explore potential risk-factors related to RHI from boxing and football. Lastly, we developed a metric to quantify cumulative RHI exposure in retired, living, football players. Using this metric, our study was the first to indicate a causal relationship between cumulative RHI exposure and risk of later life cognitive, mood, and behavioral impairment. These studies are preliminary, and our results require replication and validation in larger, longitudinal prospective studies.

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.

<p>This thesis is based on two independent studies, the first in Stockholm County (index year 1984; n=302), and the second, a replication and validation study, in Uppsala County (index year 1991; n=455).</p><p>The general aim was to study all individuals with Long-term Functional Psychosis (LFP) within the two counties of Sweden from an epidemiological perspective and to perform specific studies on a subgroup of individuals with schizophrenia. In the Stockholm study, the total one-year LFP prevalence was 5.3/1 000; in the the rural, suburban and urban areas it was 3.4, 5.6 and 6.6/1 000, respectively. The total one-year prevalence of LFP in Uppsala was 7.3/1 000; in the rural, peripheral city and central city areas it was 6.0, 7.0, and 8.7/1 000, respectively.</p><p>Within the non-schizophrenic subpopulation, a pronounced difference was demonstrated between the two studies with substantially higher prevalence rates in the Uppsala study. The schizophrenic subgroup in Uppsala was re-diagnosed using parallel diagnostic systems (DSM-III, DSM-III-R, DSM-IV and ICD-10), and reasonably comparable prevalence estimates were obtained.</p><p>In both studies antipsychotic drugs were most frequently prescribed for the patients with schizophrenia, and the doses were considered as low to moderate. In the Uppsala study the doses of antipsychotic drugs decreased with a longer duration of illness, while the opposite was found in the Stockholm study.</p><p>The increased mortality rate among patients with schizophrenia was mainly due to unnatural causes of death and cardiovascular diseases, particularly among males.</p><p>The main methodological differences between the two studies were in the sampling procedures. In the Uppsala study, a larger number of care facilities were screened, and a broader set of diagnostic criteria were used for identifying cases from different registers.</p>

This thesis is based on two independent studies, the first in Stockholm County (index year 1984; n=302), and the second, a replication and validation study, in Uppsala County (index year 1991; n=455). The general aim was to study all individuals with Long-term Functional Psychosis (LFP) within the two counties of Sweden from an epidemiological perspective and to perform specific studies on a subgroup of individuals with schizophrenia. In the Stockholm study, the total one-year LFP prevalence was 5.3/1 000; in the the rural, suburban and urban areas it was 3.4, 5.6 and 6.6/1 000, respectively. The total one-year prevalence of LFP in Uppsala was 7.3/1 000; in the rural, peripheral city and central city areas it was 6.0, 7.0, and 8.7/1 000, respectively. Within the non-schizophrenic subpopulation, a pronounced difference was demonstrated between the two studies with substantially higher prevalence rates in the Uppsala study. The schizophrenic subgroup in Uppsala was re-diagnosed using parallel diagnostic systems (DSM-III, DSM-III-R, DSM-IV and ICD-10), and reasonably comparable prevalence estimates were obtained. In both studies antipsychotic drugs were most frequently prescribed for the patients with schizophrenia, and the doses were considered as low to moderate. In the Uppsala study the doses of antipsychotic drugs decreased with a longer duration of illness, while the opposite was found in the Stockholm study. The increased mortality rate among patients with schizophrenia was mainly due to unnatural causes of death and cardiovascular diseases, particularly among males. The main methodological differences between the two studies were in the sampling procedures. In the Uppsala study, a larger number of care facilities were screened, and a broader set of diagnostic criteria were used for identifying cases from different registers.