Down syndrome is the most common chromosomal disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. A cross‐sectional study including 1,207 patients medical records were done, which 492 (40.8%) had some ophthalmological disorder. These data were subjected to descriptive analysis using Statistica software. Among the 492 patients with any ophthalmological disease, the need for glasses was found in 434 (36%) patients, keratoconus in 254 (42.1%), congenital cataract in 27 (15.1%), nasolacrimal duct obstruction in 25 (2.0%), strabismus in 22 (1.9%), nystagmus in four (0.3%), and juvenile cataract in two (0.2%). Two young adults with keratoconus underwent corneal transplantation. Although the prevalence of an ophthalmological disease among the present sample (40.8%) was lower than described in the current literature, it still reinforced the importance of routine and early evaluations in infants. These should begin at 6 months of age and be repeated half‐year until 2 years old, annually until 7 years old, biennial in adolescents, and triennial in adults and elderly. Our findings of a high frequency of keratoconus support a detailed corneal study in such patients for early detection and treatment.
Down syndrome (DS) is the most common chromosomal condition. Anatomical and functional variations in the upper and lower airways are component manifestations of the syndrome and increase the risk of various medical problems. The objective of this study was to determine the prevalence of otorhinolaryngological and respiratory diseases in a DS outpatient clinic over a 3-year period. Medical records data from 1207 patients were retrospectively reviewed. Newborn Hearing Screening was positive in 7.1% of patients. Brainstem auditory evoked potential was performed in 1101 children and showed a hearing loss of 19.8% in the first year. It was positive in 21% of 1021 exams. Audiometry was altered in 64 of 994 exams (6.4%), showing a conductive loss in 90%. Adenotonsillectomy was performed in 308 (25.5%) patients, and 169 (14.0%) required serous otitis ventilation tubes. Asthma was observed in 140 (11.6%) patients, and allergic rhinitis in 544 (56.6%). There were hospitalizations for invasive infection in 480 (39.8%) children, and two (0.2%) patients had severe septicemia from pulmonary focus. Five (0.4%) infants had laryngotracheomalacia, and one patient had anomalous right tracheal bronchus. Recognizing the prevalence of respiratory and otorhinolaryngological disorders in patients with DS allows the promotion of optimal follow-up and early treatment, preventing the development of sequelae.
RESUMO: Objetivo: Descrever e comparar hábito nutricional, prática de atividade física e índice de massa corporal (IMC) de crianças e adolescentes com síndrome de Down acompanhados em ambulatório especializado de um hospital terciário no sul do Brasil. Método: Estudo transversal realizado a partir da análise de prontuário de pacientes com síndrome de Down em idade escolar e adolescentes acompanhados em ambulatório especializado do Complexo Hospital de Clínicas da Universidade Federal do Paraná. A alimentação foi considerada adequada se consistisse em alimentos de todos os grupos nas três refeições principais e um ou dois lanches e água nos intervalos. Sedentarismo foi definido como tempo de atividade física inferior a 300 minutos por semana. O estado nutricional foi avaliado usando as curvas de IMC da Organização Mundial da Saúde, 2007. Resultados: O estudo incluiu 755 pacientes, sendo 236 (31,3%) crianças e 519 (68,7%) adolescentes. Sobrepeso e obesidade foram observados em 10,7% e 14,8% da população, respectivamente, sem diferença significativa entre os gêneros. Alimentação inadequada foi observada em 34,6% e sedentarismo em 23,7% dos pacientes. IMC elevado foi observado em 20,3% das crianças e 27,9% dos adolescentes (p=0,026). Observou-se sedentarismo em 29,5% dos adolescentes e 11% das crianças (p<0,001). Alimentação inadequada também foi mais prevalente em adolescentes, porém sem diferença estatística. Pacientes com IMC elevado, em comparação com eutróficos, tiveram maior prevalência de alimentação inadequada e sedentarismo, com significância estatística. Nesse subgrupo, o sedentarismo foi observado em 25% das crianças e 57,2% dos adolescentes (p<0,001). Conclusão: Adolescentes com síndrome de Down apresentam maiores taxas de IMC elevado e sedentarismo comparados com crianças. Estudos específicos em educação em saúde para essa população são necessários com o objetivo de promover hábitos de vida saudáveis e prevenir a obesidade com efetividade.
Introduction: Inadequate eating habits and physical inactivity directly contribute to changes in nutritional status. Patients with Down syndrome (DS) are more prone to obesity due to genetic and / or environmental factors, which favors cardiovascular diseases with the possibility of complications and reduced life expectancy. Objective: To describe the nutritional status of patients followed up at an outpatient referral center for Down's syndrome in a Brazilian tertiary hospital. Methodology: Retrospective, cross-sectional and descriptive study with analysis of 1,056 medical records of patients with DS, from 2014 to 2016. Food was considered adequate if it consisted of food from all groups in three main meals and one / two snacks and water in breaks. Sedentary lifestyle was considered if the time of physical activity was less than 300 minutes per week. Nutritional status was assessed using the World Health Organization (WHO) body mass index curves, 2007. The data were analyzed using the Excel program. The Pearson's chi-square test was used to compare data from children and adolescents. The level of significance was set at p <0.05. Approved by the Human Research Ethics Committee of the service referred to under number 04542712.3.0000.0096. Results: 517 children (3 to 9 years, 11 months and 29 days) and 539 adolescents (10 to 20 years of age) were evaluated. Food was adequate for 395 (76.4%) children and 336 (62.3%) adolescents (p <0.001). The nutritional status was adequate in 397 (76.8%) children and 371 (68.8%) adolescents, overweight was seen in 40 (8%) children and 64 (12%) adolescents (p <0.01); obesity in 50 (9.7%) children and 96 (17.8%) adolescents (p <0.001) and thinness in 30 (5.8%) children and 8 (1.5%) adolescents (p <0.001). As for physical activity, 39 (7.5%) children and 168 (31.1%) adolescents (p <0.001) were sedentary. Discussion and Conclusion: There was an association of increased body mass index with inadequate diet and physical inactivity with increasing age of patients. Individuals with DS, children and adults, are 30 to 50% susceptible to becoming obese in childhood. According to the classic literature, the presence of hypothyroidism, food error and physical inactivity are associated with overweight and obesity in this population. The prevalence of overweight and obesity in children with intellectual disabilities is almost twice as high as in peers without disabilities. And it is observed that people with DS are less involved in physical activities compared to their siblings. For adolescents, behavioral problems such as impulsiveness, recommendation behavior and disobedience discourage good lifestyle habits. Food inadequacy and physical inactivity were more prevalent in the adolescent population. The body mass index increases the age, therefore the consolidation according to the good practices of life habits requires continuous education of the family and the individual. Multidisciplinary monitoring is essential for the prevention of overweight and obesity.
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