<p>A total population of 4,479 children (7-15 years of age) attended school in Ludvika & Smedjebacken in 2000. All the school children and their parents were asked to fill in a questionnaire concerning different tics A three-stage procedure was used: tic identification, interview, and clinical assessment.</p><p>Tourette syndrome, according to DSM IV criteria was found in 25 (0.6%) of the children, another 34 (0.8%) suffered from chronic motor tics (CMT), 24 (0.4%) from chronic vocal tics (CVT) and 214 (4.8%) children had had transient tics (TT) during the last year. Altogether 297 (6.6%) children had or had had some tic disorder. </p><p>Twenty-five controls without tics and 25 children with TT of the same age, sex and school as the TS children were randomly chosen. They were together with the 34 children with CMT and the 24 children with CVT examined with use of a broad battery of instruments. </p><p>The mean age of the first symptoms of TS was significantly lower than the onset of chronic motor/vocal tics. A younger age of onset of TS indicated more severe tics. Eighty per cent had a first-degree relative with a psychiatric disorder such as tic disorder, obsessive-compulsive behaviour, attentiondeficit/hyperactivity disorder (ADHD), or depression. A non-significant increase with regard to reduced optimality score in the pre-, peri-, or neonatal periods was found in children with TS compared to controls. No differences were found concerning socio-economic status. Psychiatric comorbid disorders were found in 92% of the children with TS. ADHD was most common. Patterns of psychiatric comorbidity were similar in children with TS and CVT. Children with TS perform poorer than the population in general with respect to cognitive functioning and self-perception.</p><p>The results are discussed as they relate to the need for case identification, diagnosis, intervention, and treatment. </p>

A total population of 4,479 children (7-15 years of age) attended school in Ludvika &amp; Smedjebacken in 2000. All the school children and their parents were asked to fill in a questionnaire concerning different tics A three-stage procedure was used: tic identification, interview, and clinical assessment. Tourette syndrome, according to DSM IV criteria was found in 25 (0.6%) of the children, another 34 (0.8%) suffered from chronic motor tics (CMT), 24 (0.4%) from chronic vocal tics (CVT) and 214 (4.8%) children had had transient tics (TT) during the last year. Altogether 297 (6.6%) children had or had had some tic disorder. Twenty-five controls without tics and 25 children with TT of the same age, sex and school as the TS children were randomly chosen. They were together with the 34 children with CMT and the 24 children with CVT examined with use of a broad battery of instruments. The mean age of the first symptoms of TS was significantly lower than the onset of chronic motor/vocal tics. A younger age of onset of TS indicated more severe tics. Eighty per cent had a first-degree relative with a psychiatric disorder such as tic disorder, obsessive-compulsive behaviour, attentiondeficit/hyperactivity disorder (ADHD), or depression. A non-significant increase with regard to reduced optimality score in the pre-, peri-, or neonatal periods was found in children with TS compared to controls. No differences were found concerning socio-economic status. Psychiatric comorbid disorders were found in 92% of the children with TS. ADHD was most common. Patterns of psychiatric comorbidity were similar in children with TS and CVT. Children with TS perform poorer than the population in general with respect to cognitive functioning and self-perception. The results are discussed as they relate to the need for case identification, diagnosis, intervention, and treatment.

Introdução O transtorno de déficit de atenção/hiperatividade (TDAH) afeta entre 3 e 10% das crianças em idade escolar, ocasionando prejuízos no funcionamento individual, acadêmico e social na infância e adolescência. Apesar disso, sua etiologia ainda não é totalmente conhecida. A alta herdabilidade do TDAH leva a crer que fatores genéticos exerçam papel fundamental na predisposição para o transtorno. Entretanto, a ocorrência da patologia vai depender ainda da interação de genes com fatores de risco ambientais. Restam muitas questões a serem esclarecidas, uma delas é se há relação entre os fatores de risco ambientais e a expressão fenotípica, resultando nos diferentes subtipos do TDAH. Objetivo O objetivo do presente estudo é investigar a associação entre complicações perinatais (complicações ocorridas nos períodos pré, peri e pós-natal imediato - CPPs) e TDAH do subtipo desatento (TDAH-D). Método Participaram desse estudo, crianças e adolescentes entre 6 e 17 anos, provenientes de doze escolas estaduais e de um ambulatório especializado em TDAH de Porto Alegre. Após a realização de extensa avaliação diagnóstica, foram incluídas 124 crianças e adolescentes com o diagnóstico de TDAH-D e 124 controles sem o transtorno, pareados por idade e sexo. Informações sobre complicações ocorridas durante os períodos pré, peri e pós-natal imediato, assim como sobre potencias confundidores, foram coletadas diretamente com as mães biológicas dos sujeitos. Resultados A análise de regressão logística condicional mostrou que, para as crianças e adolescentes cujas mães apresentaram maior número de complicações perinatais, o risco de TDAH-D foi significativamente mais elevado (p = 0.005; OR= 1.25; IC95%: 1.1 – 1.5). Conclusões Em um estudo de caso-controle, foi possível expandir para o TDAH predominantemente desatento os achados prévios que sugeriam a associação entre fatores perinatais e TDAH sem um subtipo específico. / Introduction Attention-deficit/hyperactivity disorder (ADHD) affects between 3% and 10% of school aged children, leading to impaired individual, academic and social functioning in childhood and adolescence. Despite of that, the etiology of ADHD remains unclear. The high heritability points to a large genetic contribution to the etiology of ADHD. However, the development of the disorder will also depend of an interaction between genetic and environmental risk factors. Many questions remain to be answered, such as the association between the ADHD phenotypic heterogeneity and the environmental risk factors, leading to different subtypes of the disorder. Objective The objective of the present study is to investigate the association between pre-, peri-, and early postnatal complications (PDPC) and ADHD predominantly inattentive type (ADHD-I). Method: Children and adolescents between 6 and 17 years old from 12 public schools, and from an ADHD outpatient program both in Porto Alegre were assessed. After an extensive diagnostic evaluation, 124 ADHD-I cases and 124 non-ADHD controls, matched by sex and age, were included in the study. Informations about prenatal, delivery and early postnatal complications, as well as potential confounders were obtained by direct interview with biological mothers. Results: Conditional logistic regression analysis showed that children and adolescents whose mothers presented more PDPC had a significant higher risk for ADHD-I (p = 0.005; OR= 1.25; CI95%: 1.1 – 1.5). Conclusions: In a case-control study, we expanded to ADHD-I previous findings suggesting the association between perinatal factors and broadly defined ADHD.

Introdução O transtorno de déficit de atenção/hiperatividade (TDAH) afeta entre 3 e 10% das crianças em idade escolar, ocasionando prejuízos no funcionamento individual, acadêmico e social na infância e adolescência. Apesar disso, sua etiologia ainda não é totalmente conhecida. A alta herdabilidade do TDAH leva a crer que fatores genéticos exerçam papel fundamental na predisposição para o transtorno. Entretanto, a ocorrência da patologia vai depender ainda da interação de genes com fatores de risco ambientais. Restam muitas questões a serem esclarecidas, uma delas é se há relação entre os fatores de risco ambientais e a expressão fenotípica, resultando nos diferentes subtipos do TDAH. Objetivo O objetivo do presente estudo é investigar a associação entre complicações perinatais (complicações ocorridas nos períodos pré, peri e pós-natal imediato - CPPs) e TDAH do subtipo desatento (TDAH-D). Método Participaram desse estudo, crianças e adolescentes entre 6 e 17 anos, provenientes de doze escolas estaduais e de um ambulatório especializado em TDAH de Porto Alegre. Após a realização de extensa avaliação diagnóstica, foram incluídas 124 crianças e adolescentes com o diagnóstico de TDAH-D e 124 controles sem o transtorno, pareados por idade e sexo. Informações sobre complicações ocorridas durante os períodos pré, peri e pós-natal imediato, assim como sobre potencias confundidores, foram coletadas diretamente com as mães biológicas dos sujeitos. Resultados A análise de regressão logística condicional mostrou que, para as crianças e adolescentes cujas mães apresentaram maior número de complicações perinatais, o risco de TDAH-D foi significativamente mais elevado (p = 0.005; OR= 1.25; IC95%: 1.1 – 1.5). Conclusões Em um estudo de caso-controle, foi possível expandir para o TDAH predominantemente desatento os achados prévios que sugeriam a associação entre fatores perinatais e TDAH sem um subtipo específico. / Introduction Attention-deficit/hyperactivity disorder (ADHD) affects between 3% and 10% of school aged children, leading to impaired individual, academic and social functioning in childhood and adolescence. Despite of that, the etiology of ADHD remains unclear. The high heritability points to a large genetic contribution to the etiology of ADHD. However, the development of the disorder will also depend of an interaction between genetic and environmental risk factors. Many questions remain to be answered, such as the association between the ADHD phenotypic heterogeneity and the environmental risk factors, leading to different subtypes of the disorder. Objective The objective of the present study is to investigate the association between pre-, peri-, and early postnatal complications (PDPC) and ADHD predominantly inattentive type (ADHD-I). Method: Children and adolescents between 6 and 17 years old from 12 public schools, and from an ADHD outpatient program both in Porto Alegre were assessed. After an extensive diagnostic evaluation, 124 ADHD-I cases and 124 non-ADHD controls, matched by sex and age, were included in the study. Informations about prenatal, delivery and early postnatal complications, as well as potential confounders were obtained by direct interview with biological mothers. Results: Conditional logistic regression analysis showed that children and adolescents whose mothers presented more PDPC had a significant higher risk for ADHD-I (p = 0.005; OR= 1.25; CI95%: 1.1 – 1.5). Conclusions: In a case-control study, we expanded to ADHD-I previous findings suggesting the association between perinatal factors and broadly defined ADHD.

Introdução O transtorno de déficit de atenção/hiperatividade (TDAH) afeta entre 3 e 10% das crianças em idade escolar, ocasionando prejuízos no funcionamento individual, acadêmico e social na infância e adolescência. Apesar disso, sua etiologia ainda não é totalmente conhecida. A alta herdabilidade do TDAH leva a crer que fatores genéticos exerçam papel fundamental na predisposição para o transtorno. Entretanto, a ocorrência da patologia vai depender ainda da interação de genes com fatores de risco ambientais. Restam muitas questões a serem esclarecidas, uma delas é se há relação entre os fatores de risco ambientais e a expressão fenotípica, resultando nos diferentes subtipos do TDAH. Objetivo O objetivo do presente estudo é investigar a associação entre complicações perinatais (complicações ocorridas nos períodos pré, peri e pós-natal imediato - CPPs) e TDAH do subtipo desatento (TDAH-D). Método Participaram desse estudo, crianças e adolescentes entre 6 e 17 anos, provenientes de doze escolas estaduais e de um ambulatório especializado em TDAH de Porto Alegre. Após a realização de extensa avaliação diagnóstica, foram incluídas 124 crianças e adolescentes com o diagnóstico de TDAH-D e 124 controles sem o transtorno, pareados por idade e sexo. Informações sobre complicações ocorridas durante os períodos pré, peri e pós-natal imediato, assim como sobre potencias confundidores, foram coletadas diretamente com as mães biológicas dos sujeitos. Resultados A análise de regressão logística condicional mostrou que, para as crianças e adolescentes cujas mães apresentaram maior número de complicações perinatais, o risco de TDAH-D foi significativamente mais elevado (p = 0.005; OR= 1.25; IC95%: 1.1 – 1.5). Conclusões Em um estudo de caso-controle, foi possível expandir para o TDAH predominantemente desatento os achados prévios que sugeriam a associação entre fatores perinatais e TDAH sem um subtipo específico. / Introduction Attention-deficit/hyperactivity disorder (ADHD) affects between 3% and 10% of school aged children, leading to impaired individual, academic and social functioning in childhood and adolescence. Despite of that, the etiology of ADHD remains unclear. The high heritability points to a large genetic contribution to the etiology of ADHD. However, the development of the disorder will also depend of an interaction between genetic and environmental risk factors. Many questions remain to be answered, such as the association between the ADHD phenotypic heterogeneity and the environmental risk factors, leading to different subtypes of the disorder. Objective The objective of the present study is to investigate the association between pre-, peri-, and early postnatal complications (PDPC) and ADHD predominantly inattentive type (ADHD-I). Method: Children and adolescents between 6 and 17 years old from 12 public schools, and from an ADHD outpatient program both in Porto Alegre were assessed. After an extensive diagnostic evaluation, 124 ADHD-I cases and 124 non-ADHD controls, matched by sex and age, were included in the study. Informations about prenatal, delivery and early postnatal complications, as well as potential confounders were obtained by direct interview with biological mothers. Results: Conditional logistic regression analysis showed that children and adolescents whose mothers presented more PDPC had a significant higher risk for ADHD-I (p = 0.005; OR= 1.25; CI95%: 1.1 – 1.5). Conclusions: In a case-control study, we expanded to ADHD-I previous findings suggesting the association between perinatal factors and broadly defined ADHD.

Advancements in clinical care have led to a growing cohort of preterm-born individuals now entering adulthood. Before birth, such adults were often exposed to a suboptimal intrauterine environment, and after delivery, key developmental stages that would normally occur in utero during the third trimester had to take place under ex utero physiological conditions. Through detailed cardiovascular phenotyping, this thesis investigates the cardiovascular changes in preterm-born young adults, utilising a cohort of individuals with data collection since recruitment at birth. The detailed perinatal information was first used to design nested case-control studies to investigate the effects of early lipid and glucocorticoid exposure on long-term cardiovascular physiology in individuals born preterm. It was demonstrated that intravenous lipid administration leads to an artificial elevation of total cholesterol levels in immediate postnatal life, which is associated with long-term changes in aortic and left ventricular function proportional to the degree of cholesterol elevation. Additionally, exposure to antenatal glucocorticoids relates to a regional increase in aortic arch stiffness in young adulthood, as well as changes in glucose metabolism. It was then shown that young adults born preterm have increased left ventricular mass, out of proportion to blood pressure, and a unique three-dimensional left ventricular geometry, with reduced systolic and diastolic function compared to term-born controls. Similarly, they also show distinct differences in the right ventricle, with increased right ventricular mass and a proportion having clinically impaired right ventricular systolic function. Finally, it was demonstrated that preterm-born individuals have increased circulating levels of antiangiogenic factors in young adulthood, which relate to capillary rarefaction and blood pressure elevation. These findings are of considerable public health relevance given that nearly 10% of births are now preterm. Understanding whether modification of these variations in cardiovascular structure and function prevent the development of cardiovascular disease in this growing subgroup of the population will be of future interest.