Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down / High frequency of dyslipidemia in children and adolescents with Down Syndrome

El síndrome de Down (SD) presenta mayor riesgo de desarrollar enfermedades crónicas asociadas a mayor morbimortalidad por enfermedad cardiovascular. Algunos estudios han mostrado un peor perfil lipídico en niños con SD, sin embargo, hasta el momento no existen recomendaciones de tamizaje para dislipidemia en estos pacientes. Objetivo: Describir la frecuencia de dislipidemia en una población chilena de niños y adolescentes con SD. Pacientes y Método: Estudio retrospectivo, que incluyó pacientes con SD entre 2 y 18 años, participantes de un programa de salud para personas con SD en la Red de Salud UC CHRISTUS, entre los años 2007 y 2015. Se incluyeron pacientes que tuvieran perfil lipídico tomado entre sus exámenes de rutina. Se registraron características clínicas, comorbilidades relevantes, malformaciones, medicamentos, estado nutricional y estado puberal. El diagnóstico de dislipidemias se realizó de acuerdo a los criterios de la NHLBI 2011. Resultados: Se revisaron las fichas clínicas de 218 niños con SD, 58,3% tenía algún tipo de dislipidemia. Las más frecuentes fueron colesterol HDL bajo (15,1%) e hipertrigliceridemia (12,8%). La dislipidemia aterogénica (C-HDL bajo más hipertrigliceridemia) fue la dislipidemia combinada más frecuente (13,3%), la cual no se asoció a sobrepeso u obesidad. Conclusiones: Se encontró una alta frecuencia de dislipidemia en niños y adolescentes chilenos con SD. Nuestros resultados nos hacen sugerir la realización de un perfil lipídico de forma temprana a todos los pacientes con SD, independiente de la presencia de factores de riesgo de dislipidemia.

Down Syndrome (DS) shows an increased risk of chronic diseases, associated to higher morbidity and mortality for cardiovascular disease. Some studies have shown a worse lipid profile in children with DS, however, until now there is no recommendation for screening for dyslipidemia in these subjects. Objective: To describe the frequency of dyslipidemia in a population of Chilean children and adolescents with DS. Patients and Method: Retrospective study, including patients with DS, aged 2 to 18 years, who participated in a special health care program for people with DS in Health Net UC CHRISTUS, between 2007 and 2015. Patients who had a lipid profile between their routine laboratory tests were included. Clinical characteristics, relevant comorbidities, malformations, medications, nutritional status and pubertal development were obtained from medical records. Diagnosis of dyslipidemia was considered according to the criteria of the NHLBI 2011. Results: The medical records of 218 children with DS were revised, 58,3% had some type of dyslipidemia. The most frequent single dyslipidemias were low HDL Chol (15,1%) and hypertriglyceridemia (12,8%). Atherogenic dyslipidemia (low HDL plus hypertriglyceridemia) was the most frequent combined dyslipidemia (13,3%). The occurrence of atherogenic dyslipidemia was not associated with overnutrition and obesity. Conclusions: A high frequency of dyslipidemia was found in Chilean children and adolescents with DS. Our results make us suggest that lipid profile should be performed early in all patients with DS, independent of the presence of risk factors for dyslipidemia.

Perfil de morbilidad en adolescentes chilenos con síndrome de Down / Morbidity profile among adolescents with Down syndrome

Background: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). Aim: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. Material and Methods: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. Results: The mean age at the last consultation was 13 ± 3 years. Ninety-eight percent of patients had a chronic condition: 37.1% where overweight or obese, 58.2% had a congenital heart disease, 11.9% where being evaluated or had the diagnosis of autism and 44.8% had hypothyroidism. Pubertal development was consistent with chronologic age in 93.7% of patients. In three patients puberty had been suppressed. In women, average age of menarche was 12.2 ± 1.1 years. There were no deaths reported. Conclusions: There was a high rate of comorbidities in this group of adolescents with DS, most of them with frequencies comparable to those reported in literature.

¿Cómo reciben los padres la noticia del diagnóstico de su hijo con síndrome de Down?: what do the parents think? / Receiving the diagnosis of Down syndrome

Background: Having a child with Down syndrome (DS) is usually unexpected and stressful. Aim: To describe the experiences of parents of children with DS at the time of diagnosis. Material and Methods: A self-administered survey was answered by 345 parents (62% women) with an offspring with DS. Results: Eighty four percent of parents received a postnatal diagnosis of DS, 32.3% were informed of the diagnosis in the presence of his or her partner and 19.3%o received some form of printed material regarding DS. Fifty six percent of respondents considered that the delivery of the diagnosis was inadequate. Factors associated with an overall positive experience were prenatal diagnosis (Odds Ratio (OR) 3.91 (95% Confidence Intervals (CI) 2.06-7.44)) and the presence of both parents at the time of the delivery of the diagnosis (OR 1.84 (95%> CI 1.16-2.91)). Fifty three percent of respondents believe that prenatal diagnosis of DS is preferable. Conclusions: The majority of parents are unsatisfied with the way the diagnosis of DS is delivered. Efforts should be made to educate health personnel regarding the delivery of the diagnosis of SD, to foster opportunities for prenatal diagnosis and to improve the delivery of printed material.