Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1.

INTRODUCTION: It is recommended to periodically evaluate the health-related quality of life (HRQoL) in children and adolescents with type 1 diabetes mellitus (DM1). Despite this, no specific paediatric HRQoL instrument for DM1 has been validated in Spanish. OBJECTIVES: Multicentre, prospective descriptive study in children and adolescents with DM1 with the aim of carrying out cross-cultural adaptation to Spanish and evaluating the reliability and validity of the DISABKIDS chronic disease and diabetes-specific HRQoL questionnaires, using reverse translation. MATERIAL AND METHODS: Sociodemographic variables were compiled together with the most recent capillary glycated haemoglobin (HbA1c) value and HRQoL questionnaires were handed out to 200 Spanish children and adolescents with DM1 aged between 8 and 18 years of age under evaluation in 12 different hospitals. RESULTS: The mean score on the HRQoL questionnaire (patient version) for chronic disease was 80.32 (13.66), being significantly lower (P = .04) in patients with a shorter duration of the disease (≤5 years): 78.34 (13.70) vs. 82.60 (13.36). The mean score of the DM1-specific modules was: 60.81 (16.23) for disease impact and 65.59 (26.19) for treatment impact. The mean HbA1c value was 7.08 (0.79), with no differences (P > .05) noted in the mean score of the HRQoL instruments in patients with HbA1c ≤7% vs. HbA1c >7%. The Cronbach α value varied between 0.72 and 0.90. CONCLUSIONS: The Spanish versions of the DISABKIDS HRQoL instruments meet the proposed objectives of semantic equivalence and internal consistency, making it possible to periodically assess HRQoL in these patients. The good average glycaemic control presented by the patients may explain why no difference was found in the HRQoL instruments based on the HbA1c value.

Estudio colaborativo español: descripción de la práctica clínica habitual en obesidad infantil / Spanish collaborative study: Description of usual clinical practice in infant obesity

Introducción: La obesidad infantil es un problema de salud de alta prevalencia. Aunque existen guías clínicas para su manejo, la variabilidad en su abordaje clínico es un hecho. El objetivo de este estudio es describir la práctica clínica habitual en unidades de Endocrinología Pediátrica y evaluar su adecuación a la guía recomendada. Material y métodos: Se realizó un estudio observacional, transversal y descriptivo mediante encuesta a endocrinólogos infantiles de la Sociedad Española de Endocrinología Pediátrica. Las preguntas fueron formuladas en base a las recomendaciones de la «Guía de Práctica Clínica sobre la Prevención y el Tratamiento de la Obesidad Infantojuvenil» del Ministerio de Sanidad español. Resultados: Se obtuvieron 125 encuestas de todas la Comunidades Autónomas. Se observó variabilidad en el número de pacientes atendidos al mes y en la frecuencia de las visitas. El 70% de los encuestados no dispone de un nutricionista ni de psicólogo o psiquiatra al que derivar a los pacientes. En el tratamiento, las medidas dietéticas son las más empleadas; un 69% nunca ha prescrito fármacos para perder peso. De los que prescriben, el 52,6% no utilizan el consentimiento informado como paso previo a su empleo. Conclusiones: Pocos centros cumplen las recomendaciones de la Guía de Práctica Clínica sobre la Prevención y el Tratamiento de la Obesidad Infantil en un plan de calidad establecido. La práctica clínica difiere mucho entre los endocrinólogos pediátricos encuestados, sin existir protocolos unificados de actuación, y con escasa disponibilidad de recursos para el tratamiento integral que precisa esta enfermedad

Introduction: Childhood obesity is a high prevalence health problem. Although there are clinical guidelines for its management, there is variability in its clinical approach. The aim of this study is to describe the usual clinical practice in Paediatric Endocrinology Units in Spain and to evaluate if it resembles the recommended guidelines. Material and methods: An observational, cross-sectional and descriptive study was carried out by means of a questionnaire sent to paediatric endocrinologists of the Spanish Society of Paediatric Endocrinology. The questions were formulated based on the recommendations of "Clinical Practice Guidelines on the Prevention and Treatment of Childhood Obesity" issued by the Spanish Ministry of Health. Results: A total of 125 completed questionnaires were obtained from all Autonomous Communities. Variability was observed both in the number of patients attended and in the frequency of the visits. The majority (70%) of the paediatricians who responded did not have a dietitian, psychologist or psychiatrist, in their centre to share the treatment for obese children. As regards treatment, dietary advice is the most used, and 69% have never prescribed weight-loss drugs. Of those who have prescribed them, 52.6% did not use informed consent as a prior step to them being used. Conclusions: There are few centres that comply with the recommendations of the clinical practice guidelines on prevention and treatment of childhood obesity as an established quality plan. Clinical practice differs widely among the paediatric endocrinologists surveyed. There are no uniform protocols of action, and in general there is limited availability of resources for the multidisciplinary treatment required by this condition

[Spanish collaborative study: Description of usual clinical practice in infant obesity]. / Estudio colaborativo español: descripción de la práctica clínica habitual en obesidad infantil.

INTRODUCTION: Childhood obesity is a high prevalence health problem. Although there are clinical guidelines for its management, there is variability in its clinical approach. The aim of this study is to describe the usual clinical practice in Paediatric Endocrinology Units in Spain and to evaluate if it resembles the recommended guidelines. MATERIAL AND METHODS: An observational, cross-sectional and descriptive study was carried out by means of a questionnaire sent to paediatric endocrinologists of the Spanish Society of Paediatric Endocrinology. The questions were formulated based on the recommendations of "Clinical Practice Guidelines on the Prevention and Treatment of Childhood Obesity" issued by the Spanish Ministry of Health. RESULTS: A total of 125 completed questionnaires were obtained from all Autonomous Communities. Variability was observed both in the number of patients attended and in the frequency of the visits. The majority (70%) of the paediatricians who responded did not have a dietitian, psychologist or psychiatrist, in their centre to share the treatment for obese children. As regards treatment, dietary advice is the most used, and 69% have never prescribed weight-loss drugs. Of those who have prescribed them, 52.6% did not use informed consent as a prior step to them being used. CONCLUSIONS: There are few centres that comply with the recommendations of the clinical practice guidelines on prevention and treatment of childhood obesity as an established quality plan. Clinical practice differs widely among the paediatric endocrinologists surveyed. There are no uniform protocols of action, and in general there is limited availability of resources for the multidisciplinary treatment required by this condition.

Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical characteristics appear. Therapeutic approach is mainly conservative with supplements of calcium, phosphate and vitamin D and small frequent feedings to avoid hypoglycemia. We report 1 clinical case of very early diagnosis, a 19 days old baby girl, in which the first clinical sign of the disease was the detection of glycosuria and vomits. Serum alkaline phosphatase levels were very high without rickets. The patient presented postprandial hyperglycemia and fasting hypoglycemia. A complete 24-hour glucose profile was obtained using a continuous glucose monitoring system in real time, which was fundamental not only for the diagnosis but also for the prevention of hypoglycemia. She received frequent small meals, galactose-free milk diet, and oral intakes of calcium, phosphorum, bicarbonate and vitamin D supplements with good evolution and normal height and weight gain.