Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment. Our aim was to distinguish unambiguously true cases from disease carriers in order to obtain useful diagnostic information for clinicians that can be applied in the follow-up of neonates identified by NBS.Increases in C14:1 and of the different ratios, the presence of two pathogenic mutations, and deficient enzyme activity in lymphocytes (<12% of the intra-assay control) identified 12 true-positive cases. These cases were given nutritional therapy and all of them are asymptomatic, except one. Seventeen individuals were considered disease carriers based on the mild increase in plasma C14:1, in conjunction with the presence of only one mutation and/or intermediate residual activity (18-57%). In addition, seven cases were classified as false positives, with normal biochemical parameters and no mutations in the exonic region of ACADVL. All these carriers and the false positive cases remained asymptomatic. The combined evaluation of the acylcarnitine profiles, genetic results, and residual enzyme activities have proven useful to definitively classify individuals with suspected VLCAD deficiency into true-positive cases and carriers, and to decide which cases need treatment.

La importancia de la historia nutricional / The importance of nutritional history

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Factors predicting distress among parents/caregivers of children with neurological disease and home enteral nutrition.

BACKGROUND & AIMS: Caregivers of children with chronic diseases included in a home enteral nutrition (HEN) programme are at risk of experiencing a feeling of burden, high level of anxiety and psychological distress. The aims of this study were: first, to examine the prevalence of symptoms of anxiety-depression in caregivers of children with neurological diseases requiring HEN by gastrostomy tube (GT); second, to compare the characteristics of caregivers with high or low risk of exhibiting symptoms of anxiety-depression; and third, to investigate possible associations to child disease severity and nutrition support mode. METHODS: A cross-sectional observational study was performed in 58 caregivers of children (31 boys, aged 0.3-18 years) with neurological diseases and GT feeding. The characteristics of caregivers with high or low risk of presenting symptoms of anxiety-depression were compared regarding the following variables: socio-demographic characteristics, the primary caregiver's intrapsychic factors, anthropometric parameters of the child, length of HEN, type of nutrients delivered by GT and infusion regime. RESULTS: All primary caregivers were mothers. Fifty-three per cent of them showed high risk of exhibiting symptoms of anxiety-depression. Mothers with high or low risk of presenting symptoms of anxiety-depression were comparable in age and family socio-economic status. They were also similar in terms of age, anthropometric conditions and length of HEN in their children.No differences were found between the two groups of mothers according to the level of the child's motor function impairment, type of nutrients delivered by GT and infusion regime. Higher levels of psychological distress and perception of burden overload were found in mothers with high risk of exhibiting symptoms of anxiety-depression. CONCLUSIONS: This study found a high prevalence of symptoms of anxiety-depression, perception of burden overload and psychological distress in caregivers of children with HEN. Thus, greater practical and emotional support is required for these families.

La nutrición en el Hospital Infantil Universitario Niño Jesús / Nutrition in the Hospital Infantil Universitario Niño Jesús

La actividad de la Sección se centra de manera especial en soporte artificial domiciliario, las enfermedades metabólicas y las alteraciones de la conducta alimentaria del niño pequeño (AU)

Activity in the Section is especially focused on home artificial nutritional support, metabolic diseases and alterations in eating behavior of the small child (AU)

Signos guía en el diagnóstico de enfermedad metabólica / Guiding signs in metabolic disease diagnosis

Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada. Sin embargo existen algunos datos de la exploración física y de las pruebas complementarias que pueden enfocar el proceso diagnóstico hacia la solicitud de pruebas específicas que lo confirmen. El caso que presentamos trata de destacar algunos de estos datos que pueden hacer sospechar la existencia de un defecto congénito de la glucosilación de proteínas, trastorno infrecuente pero con algunas formas tratables, por lo que su sospecha y diagnóstico precoz es de vital importancia (AU)

Inborn errors of metabolism are a group of genetic diseases with non specific symptoms and therefore difficult to diagnose without high clinical suspicion. However there are some physical examination data and laboratory tests that can focus the diagnostic process to the implementation of specific tests to confirm them. The case exposed highlights some of these data that can make us suspect the existence of a congenital defect of glycosylation of proteins, rare disorder but with some treatable variations, that make their suspicion and early diagnosis of great importance (AU)

Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.

BACKGROUND/OBJECTIVES: The home enteral nutrition (HEN) provides nutritional support to children with chronic diseases who are nutritionally compromised and allows them to be discharged more quickly from hospitals. In 2003, a web-based registry (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition -NEPAD-) was created with the objective of gathering information about pediatric HEN practices in Spain. AIM: The aim of this study was to report the implementation of the NEPAD (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition) registry of pediatric HEN in Spain and to analyze data evolution trends from 2003 to 2010. SUBJECTS/METHODS: The data from the Spanish NEPAD registry were analyzed according to the following variables: demographic data, diagnosis, indication for HEN, nutritional support regime and administration route. RESULTS: Over the study period, 952 patients (1048 episodes) from 20 Spanish hospitals were included in the NEPAD registry. The most frequent indication for HEN was decreased oral intake (64%), and neurological disease was the most prevalent illness. HEN was delivered via a nasogastric tube in 573 episodes (54.7%), by gastrostomy in 375 episodes (35.8%), oral feeding in 77 episodes (7.3%) and by jejunal access in 23 episodes (2.2%). Significant differences in the mode of administration were observed based on the pathology of the child (χ(2), P<0.0001). The cyclic feeding was the most widely used technique for the administration of HEN. Most of the patients used a pump and a polymeric formula. Transition to oral feeding was the primary reason for discontinuation of this type of support. CONCLUSIONS: Since the NEPAD registry was established in Spain, the number of documented patients has increased more than 25-fold. Many children with chronic illness benefit from HEN, mainly those suffering from neurological diseases.

Psychometric properties of the structured Satisfaction Questionnaire with Gastrostomy Feeding (SAGA-8) for caregivers of children with gastrostomy tube nutritional support.

BACKGROUND: To analyse the psychometric properties of the structured Satisfaction Questionnaire with Gastrostomy Feeding (SAGA-8) in parents/caregivers of children with home enteral nutrition (HEN) by gastrostomy tube (GT). METHODS: Eighty-six caregivers (mothers) of paediatric patients with HEN by GT were recruited. Patients suffered from neurological disease (61.6%) and other chronic diseases. The SAGA-8 scale, a structured questionnaire to explore satisfaction with HEN by GT, and the Caregiver Burden Inventory (Zarit) were completed. The discriminating power of each of the SAGA-8 items, internal consistency and external validity were evaluated. An exploratory factor analysis and Kaiser-Meyer-Olkin (KMO) was performed as well. RESULTS: Eighty-four percent of the families expressed high satisfaction with GT feeding. All eight items of SAGA-8 gave additional information. The exploratory factor analysis revealed that a significant part of the items' variability could be explained by two independent factors: Factor 1 (direct benefit), which compiled the variables related to the perception of children's overall improvement by GT feeding; Factor 2 (indirect benefit), which grouped the variables related to a decrease in respiratory infections, feeding time and institutional support. Results from KMO (0.628) indicated the high adequacy of the items assessed in the factorial analysis. Moreover, the questionnaire presented high internal consistency (0.76), and the external validation analysis confirmed the correlation between SAGA-8 and Zarit, thereby emphasising the approptiate use of the SAGA-8 to detect carers' satisfaction. CONCLUSIONS: The SAGA-8 questionnaire has a high discriminatory power to assess the degree of satisfaction experienced by parents/caregivers of children with HEN by GT and, subsequently, the patients' wellbeing.

Home enteral nutrition in children; a 10 year experience with 304 pediatric patients / Nutrición enteral domiciliara en niños; 10 años de experiencia con 304 pacientes

Background & aims: Home enteral nutrition is used increasingly in pediatric populations. Our objective was to describe the profile of pediatric patients requiring this treatment. Material and methods: All patients under 18 years old requiring treatment with home enteral nutrition between January 1995 and December 2004 were analyzed retrospectively. Results: 304 patients were studied (157 boys). The mean age at the start of treatment was 4.02 ± 4.09 years, median of 2.5 years; 28% of all patients were under 1 year. The main indications were oncological disease in 91 patients (29.9%) and digestive diseases in 84 (27.6%). There were significant differences depending on the clinical diagnosis for the start age, type of access, infusion regime and formula prescribed. Nutrients were delivered by nasogastric tube in 218 patients (71.7%). Overnight enteral nutrition was the preferred infusion regime in 155 patients (51%). Adult or pediatric polymeric formulas were mostly prescribed in 190 patients (62.5%). The mean treatment duration was 306 ± 544 days. Conclusion: In our series, enteral support usually begins at an early age. Its characteristics varied depending on patient pathology. Knowledge of the pediatric patient profile is important to design the most effective strategy for home enteral nutrition (AU)

Introducción y objetivos: La nutrición enteral domiciliaria es un soporte nutricional cada vez más utilizado en población pediátrica. Nuestro objetivo ha sido describir el perfil de un grupo de pacientes pediátricos que precisaron este tratamiento. Material y métodos: Se analizaron retrospectivamente todos los pacientes menores de 18 años que precisaron tratamiento con nutrición enteral domiciliaria entre enero 1995 y diciembre 2004. Resultados: Se estudiaron 304 pacientes (157 niños). La edad media al inicio del tratamiento fue de 4,02 ± 4,09 años, con una mediana de 2,5 años; un 28% de los pacientes eran menores de 1 año. Las indicaciones principales fueron la enfermedad oncológica en 91 pacientes (29,9%) y la digestiva en 84 (27,6%). Se encontraron diferencias significativas en función del diagnóstico clínico para la edad de inicio, el tipo de acceso, el modo de administración y la fórmula prescrita. El tipo de acceso más utilizado fue la sonda nasogástrica en 218 pacientes (71,7%). El régimen de infusión más utilizado fue la nutrición enteral nocturna en 155 pacientes (51%). Se prescribió principalmente fórmula polimérica de adultos o pediátrica en 190 pacientes (62,5%). La duración media del tratamiento fue de 306 ± 544 días. Conclusión: En nuestra serie, el soporte enteral suele iniciarse a edades muy tempranas. Sus características variaron en función de la patología del paciente. Conocer el perfil del paciente pediátrico es importante para diseñar la estrategia más eficaz en el uso de la nutrición enteral domiciliaria (AU)

Enfermedad de Von Hippel-Lindau en un paciente con aciduria l-2-hidroxiglutárica / Von Hippel-Lindau disease in a patient with l-2-hydroxyglutaric aciduria

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Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España / Epidemiological study of the metabolic diseases with homocystinuria in Spain

Objetivos: Conocer la prevalencia en España de los diferentes errores congénitos del metabolismo que presentan homocistinuria y establecer las medidas oportunas para garantizar su prevención, diagnóstico y tratamiento, en aquellos casos posibles. Material y métodos: En abril 2009 se realizó una encuesta nacional de carácter transversal mediante cuestionario enviado a 35 centros, en los que se atiende a pacientes infantiles y adultos. La finalidad de la encuesta era establecer la prevalencia en ese momento recogiendo el histórico de pacientes que cada centro tuviera documentados. Resultados: A través de los cuestionarios respondidos por 25 médicos de 16 centros, se han identificado 75 pacientes: 41 defectos de transulfuración (uno fallecido), 27 de remetilación (6 fallecidos) y 7 sin diagnóstico etiológico definitivo. La edad de diagnóstico muestra una amplia variación, en 18 casos había más de un hermano afectado. Las manifestaciones clínicas más graves inciden en el grupo de los pacientes afectados de trastornos de la remetilación. Destaca el alto porcentaje de déficit cognitivo, seguido de la patología de cristalino; casi la mitad de los pacientes presentan trastornos neurológicos, es elevada la afectación vascular en los adultos con deficiencia de CBS; las opciones terapéuticas más utilizadas han sido el ácido fólico, la hidroxicobalamina y la betaína. Conclusiones: A la vista de estos resultados, y en especial del escaso número de deficiencias de CBS detectadas, se concluye la necesidad de implantar el cribado neonatal para la homocistinuria clásica y asegurar la puesta en marcha del proceso diagnóstico oportuno en todos los pacientes de riesgo(AU)

Objectives: To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment. Material and methods: A national cross-sectional survey was conducted by means of a questionnaire sent to 35 hospitals in which children and adult patients are treated. Results: Using the questionnaires submitted by 25 physicians from 16 centres, 75 patients were identified: 41 transsulphuration defects (one deceased), 27 remethylation (six deaths) and 7 without a syndromic diagnosis. The age at diagnosis varied widely, and 18 cases had more than one sibling affected. The more severe clinical manifestations involved the patients with remethylation defects. There was a high percentage of cognitive impairment, followed by lens diseases. Almost half of the patients had neurological disorders. There was increased vascular involvement in CBS-deficient adults. The therapeutic options most used were, folic acid, hydroxycobalamin and betaine. Conclusions: In view of these results and especially the small number of CBS deficiencies detected, we conclude that there is a need to introduce newborn screening for classical homocystinuria and ensure implementation of an appropriate diagnostic workup in all patients at risk(AU)

Home enteral nutrition in children: a 10 year experience with 304 pediatric patients.

BACKGROUND & AIMS: Home enteral nutrition is used increasingly in pediatric populations. Our objective was to describe the profile of pediatric patients requiring this treatment. MATERIAL AND METHODS: All patients under 18 years old requiring treatment with home enteral nutrition between January 1995 and December 2004 were analyzed retrospectively. RESULTS: 304 patients were studied (157 boys). The mean age at the start of treatment was 4.02 ± 4.09 years, median of 2.5 years; 28% of all patients were under 1 year. The main indications were oncological disease in 91 patients (29.9%) and digestive diseases in 84 (27.6%). There were significant differences depending on the clinical diagnosis for the start age, type of access, infusion regime and formula prescribed. Nutrients were delivered by nasogastric tube in 218 patients (71.7%). Overnight enteral nutrition was the preferred infusion regime in 155 patients (51%). Adult or pediatric polymeric formulas were mostly prescribed in 190 patients (62.5%). The mean treatment duration was 306 ± 544 days. CONCLUSION: In our series, enteral support usually begins at an early age. Its characteristics varied depending on patient pathology. Knowledge of the pediatric patient profile is important to design the most effective strategy for home enteral nutrition.

Consensus on paediatric enteral nutrition access: a document approved by SENPE/SEGHNP/ANECIPN/SECP.

Standardization of clinical procedures has become a desirable objective in contemporary medical practice. To this effect, the Spanish Society of Parenteral and Enteral Nutrition (SENPE) has endeavoured to create clinical practice guidelines and/or documents of consensus as well as quality standards in artificial nutrition. As a result, the SENPE´s Standardization Team has put together the "Document of Consensus in Enteral Access for Paediatric Nutritional Support" supported by the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP), the National Association of Pediatric and Neonatal Intensive Care Nursery (ANECIPN), and the Spanish Society of Pediatric Surgery (SECP). The present publication is a reduced version of our work; the complete document will be published as a monographic issue. It analyzes enteral access options in the pediatric patient, reviews the levels of evidence and provides the team-members' experience. Similarly, it details general and specific indications for pediatric enteral support, current techniques, care guidelines, methods of administration and complications of each enteral access. The data published by the American Society for Parenteral and Enteral Nutrition (ASPEN) and several European Societies has also been incorporated.

Introducción y justificación / No disponible

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Home parenteral nutritrion in children: procedures, experiences and reflections / La nutrición parenteral pediátrica domiciliaria: procedimientos, experiencias y reflexiones

This document summarizes the issues raised in a think tank meeting held by professionals with expertise in pediatric Home Parenteral Nutrition. This nutritional technology enables patients to return home to their family and social environment, improves their quality of life and decreases health-care costs; however, it is complex and requires an experienced nutritional support team. Patient selection is normally made according to their underlying disease, the estimated duration of support and family and social characteristics. The patient’s family must agree to take on caregiver’s responsibilities and should be able to perform treatment safely and effectively after receiving proper training from the nutritional support team. Close monitoring must be carried out to ensure tolerance and effectiveness of nutritional support, there by avoiding complications. This nutritional treatment achieves, in most cases, recovery and intestinal adaptation in varying periods of time. In certain diseases, and when home parenteral nutrition becomes complicated, intestinal transplant may be recommendable, so referral to rehabilitation units and Intestinal Transplantation should be made early on (AU)

El presente documento resume los aspectos abordados en una Jornada de puesta en común con la participación de profesionales con experiencia en nutrición parenteral domiciliaria pediátrica. Este tratamiento permite el retorno de los pacientes a su medio familiar y social, mejora su calidad de vida y disminuye los costes sanitarios pero es complejo y requiere un equipo de soporte nutricional experimentado. La selección del paciente se realizará en función de su enfermedad de base, la duración estimada del soporte y las características familiares y sociales. La familia del paciente ha de querer hacerse cargo de su cuidado y debe ser capaz de realizar el tratamiento de forma segura y eficaz tras recibir la formación adecuada por el equipo de soporte nutricional. El seguimiento ha de efectuarse de forma estrecha para asegurar la tolerancia y eficacia del soporte, evitando las complicaciones. Este tratamiento nutricional consigue, en la mayoría de los casos, la recuperación y adaptación intestinal en periodos variables de tiempo. En ciertas patologías y cuando la nutrición parenteral domiciliaria se complica puede estar indicado el trasplante intestinal, por lo que la remisión a las Unidades de Rehabilitación Intestinal y Trasplante debe hacerse de forma precoz (AU)

Current status of pediatric home enteral nutrition in Spain: The importance of the NEPAD register / Estado actual de la nutrición enteral pediátrica en España: la importancia del registro NEPAD

Home enteral nutrition (HEN) is a type of enteral nutrition (EN) which is becoming progressively more widespread in pediatrics due to the benefits it affords to patients, their families and to reducing hospital costs. However, the true extent of its use is unknown in Spain as the data-base set up for this purpose is still underused (Registro de Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria -NEPAD-). More thorough registration of patients in the NEPAD online register will provide information about the characteristics of HEN in Spain: prevalence, diagnosis, the population sector being administered HEN, complications and developments. Likewise, forecast and planning of the necessary resources could be made while those in use could be analysed (AU)

La nutrición enteral domiciliaria (NED) es una modalidad de nutrición enteral (NE) con una progresiva extensión en pediatría por los beneficios que supone para el paciente, sus familiares y la disminución de los costes hospitalarios. Sin embargo, se desconoce su verdadero alcance en España ya que el registro creado a tal efecto está aún infrautilizado (Registro de Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria -NEPAD-). La inclusión exhaustiva de pacientes en NEPAD permitiría conocer las características de la NED en España: prevalencia, indicaciones, población a la que se le está administrando, complicaciones y evolución. Así mismo se podría realizar una previsión y planificación de los recursos que se precisan y analizar los que se están utilizando (AU)

Nutrición artificial domiciliaria / Home artificial nutrition

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Home parenteral nutrition in children: procedures, experiences and reflections.

This document summarizes the issues raised in a think-tank meeting held by professionals with expertise in pediatric Home Parenteral Nutrition. This nutritional technology enables patients to return home to their family and social environment, improves their quality of life and decreases health-care costs; however, it is complex and requires an experienced nutritional support team. Patient selection is normally made according to their underlying disease, the estimated duration of support and family and social characteristics. The patient''s family must agree to take on caregiver's responsibilities and should be able to perform treatment safely and effectively after receiving proper training from the nutritional support team. Close monitoring must be carried out to ensure tolerance and effectiveness of nutritional support, thereby avoiding complications. This nutritional treatment achieves, in most cases, recovery and intestinal adaptation in varying periods of time. In certain diseases, and when home parenteral nutrition becomes complicated, intestinal transplant may be recommendable, so referral to rehabilitation units and Intestinal Transplantation should be made early on.