RESUMO
BACKGROUND: Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life. OBJECTIVE: To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome. METHODS: We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. RESULTS: A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. CONCLUSION: Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.
ANTECEDENTES: A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. OBJETIVO: Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. MéTODOS: Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. RESULTADOS: Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. CONCLUSãO: As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde.
Assuntos
Síndrome de Down , Epilepsia , Humanos , Feminino , Lactente , Pré-Escolar , Masculino , Qualidade de Vida/psicologia , Estudos Transversais , Brasil/epidemiologiaRESUMO
Abstract Background Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life. Objective To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome. Methods We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. Results A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. Conclusion Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.
Resumo Antecedentes A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. Objetivo Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. Métodos Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. Resultados Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. Conclusão As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde.
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. [au]
Objective: To describe and compare the nutritional habits, physical activity, and body mass index (BMI) of children and adolescents with Down syndrome followed up in the specialized outpatient clinic of a tertiary hospital in southern Brazil. Method: Cross-sectional study conducted from the analysis of medical records of patients with Down syndrome at school age and adolescents followed up at the Complexo Hospital de Clínicas of the Universidade Federal do Paraná. The diet was considered adequate if it consisted of foods from all groups in the three main meals and one or two snacks and water in the intervals. A sedentary lifestyle was defined as physical activity time of fewer than 300 minutes per week. Nutritional status was assessed using BMI curves from the World Health Organization, 2007. Results: The study included 755 patients, of whom 236 (31.3%) were children and 519 (68.7%) were adolescents. Overweight and obesity were observed in 10.7% and 14.8% of the population, respectively, without significant gender differences. Inadequate diet was observed in 34.6% and sedentarism in 23.7% of the patients. High BMI was observed in 20.3% of children and 27.9% of adolescents (p=0.026). Sedentarism was observed in 29.5% of adolescents and 11% of children (p<0.001). Inadequate diet was also more prevalent in adolescents but without statistical difference. Patients with high BMI, compared to eutrophic patients, had a higher prevalence of inadequate diet and sedentarism, with statistical significance. In this subgroup, sedentarism was observed in 25% of children and 57.2% of adolescents (p<0.001). Conclusion: Adolescents with Down syndrome have higher rates of high BMI and sedentarism compared to children. Specific studies in health education for this population are necessary to promote healthy lifestyle habits and effectively prevent obesity. [au]
RESUMO
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.
Assuntos
Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Otorrinolaringopatias/complicações , Otorrinolaringopatias/epidemiologia , Doenças Respiratórias/complicações , Doenças Respiratórias/epidemiologia , Adolescente , Adulto , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Otorrinolaringopatias/diagnóstico , Prevalência , Vigilância em Saúde Pública , Doenças Respiratórias/diagnóstico , Estudos Retrospectivos , Adulto JovemRESUMO
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.
Assuntos
Síndrome de Down/diagnóstico , Oftalmopatias/diagnóstico , Obstrução dos Ductos Lacrimais/diagnóstico , Adolescente , Adulto , Brasil/epidemiologia , Catarata/complicações , Criança , Pré-Escolar , Estudos Transversais , Síndrome de Down/complicações , Anormalidades do Olho/complicações , Oftalmopatias/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Ceratocone/complicações , Obstrução dos Ductos Lacrimais/complicações , Masculino , Nistagmo Congênito/complicações , Estudos Retrospectivos , Software , Estrabismo/complicações , Adulto JovemRESUMO
CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING: Cross-sectional study conducted in a referral center. METHODS: Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS: Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.
Assuntos
Síndrome de Down/epidemiologia , Cardiopatias Congênitas/epidemiologia , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Hipertensão Pulmonar/epidemiologia , Lactente , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Distribuição por SexoRESUMO
ABSTRACT CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING : Cross-sectional study conducted in a referral center. METHODS : Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS : Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION : The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.
RESUMO CONTEXTO E OBJETIVO : A síndrome de Down é a anomalia genética mais comum e afeta 1/700 nascidos vivos. Entre os achados clínicos, uma preocupação constante é a alta prevalência de cardiopatia congênita e o objetivo do presente estudo é determinar a prevalência e o perfil de cardiopatia congênita em pacientes atendidos em um ambulatório de síndrome de Down no período de 2005 a 2013 no sul do Brasil. TIPO DE ESTUDO E LOCAL : Estudo transversal conduzido em um centro de referência. MÉTODOS : Foi realizada coleta retrospectiva de dados de 1.207 prontuários de pacientes com síndrome de Down, com 604 (50,0%) diagnosticados com cardiopatia congênita. Os dados foram submetidos a análise descritiva, utilizando-se o programa Statistica. RESULTADOS : Entre os 604 pacientes com cardiopatia congênita, 338 (55,8%) eram do sexo masculino e 269 (44,5%) do feminino. A cardiopatia mais comum foi comunicação interatrial, observada em 254 (42,1%) pacientes, defeito de septo atrioventricular total, em 91 (15,1%), comunicação interatrial em conjunto com comunicação interventricular, em 88 (14,6%), comunicação interventricular, em 77 (12,7%), persistência do canal arterial, em 40 (6,6%), forame oval patente, em 34 (5,6%), tetralogia de Fallot, em 12 (2%) e outras cardiopatias observadas em oito (1,3%) pacientes. Hipertensão pulmonar esteve presente em 57 (9,4%). Do total, 150 (24,8%) pacientes foram submetidos a cirurgia cardíaca. CONCLUSÃO : A elevada prevalência das cardiopatias congênitas nos pacientes do ambulatório da síndrome de Down, de 50%, semelhante à encontrada em outros estudos, justifica a investigação no período neonatal, com diminuição da mortalidade e morbidade.
Assuntos
Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome de Down/epidemiologia , Cardiopatias Congênitas/epidemiologia , Brasil/epidemiologia , Estudos Transversais , Hipertensão Pulmonar/epidemiologia , Prevalência , Estudos Retrospectivos , Distribuição por SexoRESUMO
INTRODUCTION: There is a high prevalence of congenital heart disease (CHD) in Down syndrome (DS) patients. Children with DS and CHD also present greater susceptibility to pulmonary infections than those without CHD. AIM: To investigate the prevalence and types of CHD and their association with severe infections in children with DS in southern Brazil seen in a reference outpatient clinic. METHODS: Children aged between six and 48 months with a diagnosis of DS were included consecutively in the period May 2001 to May 2012, and the presence of CHD and severe infections (pneumonia and sepsis) was investigated, classified and analyzed. RESULTS: A total of 127 patients were included, of whom 89 (70.1%) had some type of CHD, 33 (37.7%) of them requiring surgical correction. Severe infections (pneumonia and sepsis) were seen in 23.6% and 5.5%, respectively. Of the cases of pneumonia, 70% had associated CHD (p=0.001) and of those with sepsis, 85% presented CHD (p=0.001). CONCLUSIONS: Our study showed a high prevalence of CHD and its association with severe infections in children with DS seen in southern Brazil.