Browsing by Author "Sousa, Bebiana"
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- Association between attention-deficit/hyperactivity symptoms and sleep in preschoolersPublication . Gomes, Rita; Sousa, Bebiana; Gonzaga, Diana; Prior, Catarina; Rios, Marta; Vaz Matos, InêsIntroduction: Sleep problems are frequent in children with attention-deficit/hyperactivity disorder (ADHD). Some authors have tried to characterize paediatric sleep habits in Portugal, but none has focused on preschool-age children nor attempted to establish their association with ADHD. We aimed to assess the prevalence of ADHD symptoms in preschool-age children and to study their association with sleep habits. Material and methods: We conducted a cross-sectional study. We distributed questionnaires to a random sample of caregivers of children enrolled in early childhood education centres in Porto. We collected data on sociodemographic characteristics, television watching and outdoor activities. We assessed ADHD symptoms and sleep habits with the Portuguese versions of the Conners' Parents Rating Scale, Revised and the Children's Sleep Habits Questionnaire (CSHQ-PT), respectively. Results: The study included 381 preschoolers (50.90% male). We found high scores for ADHD symptoms in 13.10%, with a higher prevalence in girls (14.40% vs. 11.85%; P = 0.276). In the CSHQ-PT, 45.70% of participants had a mean total score greater than 48, which is the cut-off point applied in the screening of sleep disturbances in the Portuguese population. There was a significant association between high scores for ADHD symptoms and a lower maternal education level (P < 0.001), a shorter sleep duration (P = 0.049), and higher scores on parasomnias (P = 0.019) and sleep disordered breathing (P = 0.002) in CSHQ-PT subscales. Conclusions: ADHD and sleep disorders are common in preschoolers, in Porto, and this study suggests some clinical correlations between them. Since these interactions are complex and far from being elucidated, further studies are paramount to provide guidance for prevention and managing strategies in younger children at risk for ADHD.
- Wilson’s Disease: A Prevalence Study in a Portuguese PopulationPublication . Sousa, Bebiana; Magalhães, Pedro; Pinto, Alfredo; Trindade, Eunice; Silva, Ermelinda; Presa Ramos, José; Freitas, Sara; Lopes, Susana; Antunes, HenedinaIntroduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants. Database collection was based on the Portuguese National Health Service's clinical coding system, relying on clinical data from 13 northern Portuguese hospitals, liver biopsy histology results, and hospital prescription records. Clinical and biochemical correlations were statistically assessed using chi-square, Mann-Whitney U, Friedman, and Wilcoxon tests. Results Over the 20-year period, a prevalence of 1:37.000 and an incidence of one per million person-year was found. A total of 94 patients were analyzed, with a slight male predominance (53%), the majority with the onset of clinical manifestations in pediatric age (56%), with a median age at diagnosis of 16.6 years (interquartile range of 12.3-20,.8 years). Most patients presented with predominant liver disease (54.8%), with more than a third with cirrhosis; mixed hepatic and neurological manifestations in 17.9%; and mainly neurological symptoms in 10.7% of the patients. Neurological impairment was strongly associated with delayed development of the manifestations of the disease (p = 0.001) and also a higher detection of Kayser-Fleischer rings (p < 0.001), present in 27.0% of the patients. Regarding therapy, penicillamine has been the most widely used, with adverse reactions reported in 24.8%. At six and 12 months after initiation of therapy, a significant decrease in liver enzymes was found (ALT: p = 0.002; AST: p = 0.002, respectively), but no significant reduction was observed in urinary copper excretion. Conclusion This was one of the first studies regarding WD prevalence in a Portuguese population, contributing to a better understanding of the epidemiology, diagnosis, and management of WD in the northern region of Portugal. WD should be considered in any individual with unexplained hepatic or neurological manifestations, and initial symptoms may manifest at an early age, even in children less than five years old. A high percentage of patients were identified in the early stages of the disease by asymptomatic elevation of transaminases. Following copper chelation therapy, cytolysis markers appear to be more sensitive indicators of treatment response.