ABSTRACT
BACKGROUND & AIMS: Different nutritional screening tools have been proposed in childhood cancer, but none has shown convincing predictive capacity so far. The "nutrition screening tool for childhood cancer (SCAN)" has been specifically designed for this population and provides an easy-to-use, promising approach to identify patients at risk of malnutrition. We aim to: 1. Validate the SCAN tool prospectively in identifying malnourished patients or those who required nutritional support 2. Validate the SCAN tool prospectively in predicting toxicities or outcome. 3. Compare performance of a pediatric screening tool (STRONGKIDS) with SCAN. METHODS: Children in our center with a new diagnosis of cancer from August 2018 to May 2019 were offered to participate in the study. Measurements (SCAN questionnaire, weight, height, body-mass index (BMI), and mid upper-arm circumference (MUAC)) were taken at diagnosis and at regular intervals throughout therapy. The last measurement was taken 6 months after finishing the intensive treatment phase. SCAN score at diagnosis was validated prospectively against variables of interest. RESULTS: A total of 49 patients were recruited. When considering malnutrition during therapy the SCAN tool showed a sensitivity of 37.5% and negative predictive value (NPV) of 81%. Patients who required nutritional support were identified with a sensitivity of 50% and NPV of 62%. The SCAN tool was not able to predict increased toxicities, risk of relapse or decreased survival. The pediatric screening tool STRONGKIDS was unable to discriminate nutritional risk and labeled all 49 patients (100%) as medium or high-risk. Applying SCAN periodically during therapy increased sensitivity for identifying malnutrition to 87.5%. CONCLUSIONS: In our study, applying the SCAN tool at diagnosis showed low sensitivity in identifying patients who go on to develop malnutrition during therapy. However, patients labeled as "not at risk" were unlikely to need nutritional support in the form of nasogastric tube or total parenteral nutrition. Using SCAN throughout therapy could be helpful in building awareness for malnutrition and successfully discriminates between patients who need further support and those who don't.
ABSTRACT
La dieta cetogénica constituyó desde su inicio un planteamiento sorprendente para el tratamiento de la epilepsia. Someter al organismo a un cambio en la obtención de energía, pasando de depender de los carbohidratos a hacerlo de las grasas, pone en marcha toda una serie de rutas bioquímicas que, de forma independiente pero también complementaria, dan lugar a un conjunto de efectos que benefician al paciente. Esta búsqueda de su mecanismo de acción, de idear cómo mejorar el cumplimiento y de aprovecharla para otras enfermedades ha marcado su trayectoria. En este artículo se revisan someramente estos aspectos, haciendo hincapié en la importancia de seguir realizando investigación básica y clínica para que este tratamiento pueda aplicarse con bases científicas sólidas.(AU)
The ketogenic diet was an amazing approach to treating epilepsy from its beginning. The body undergoes a change in obtaining energy, going from depending on carbohydrates to depending on fats, and then a whole series of biochemical routes are launched that, independently but also complementary, give rise to a set of effects that benefit the patient. This search for its mechanism of action, of devising how to improve compliance and take advantage of it for other diseases has marked its trajectory. This article briefl y reviews these aspects, emphasizing the importance of continuing to carry out basic and clinical research so that this treatment can be applied with solid scientific bases.(AU)
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Diet, Ketogenic/methods , Steroid Metabolism, Inborn Errors , Epilepsy/therapy , Diet TherapyABSTRACT
Introduction: The ketogenic diet was an amazing approach to treating epilepsy from its beginning. The body undergoes a change in obtaining energy, going from depending on carbohydrates to depending on fats, and then a whole series of biochemical routes are launched that, independently but also complementary, give rise to a set of effects that benefit the patient. This search for its mechanism of action, of devising how to improve compliance and take advantage of it for other diseases has marked its trajectory. This article briefly reviews these aspects, emphasizing the importance of continuing to carry out basic and clinical research so that this treatment can be applied with solid scientific bases.
Introducción: La dieta cetogénica constituyó desde su inicio un planteamiento sorprendente para el tratamiento de la epilepsia. Someter al organismo a un cambio en la obtención de energía, pasando de depender de los carbohidratos a hacerlo de las grasas, pone en marcha toda una serie de rutas bioquímicas que, de forma independiente pero también complementaria, dan lugar a un conjunto de efectos que benefician al paciente. Esta búsqueda de su mecanismo de acción, de idear cómo mejorar el cumplimiento y de aprovecharla para otras enfermedades ha marcado su trayectoria. En este artículo se revisan someramente estos aspectos, haciendo hincapié en la importancia de seguir realizando investigación básica y clínica para que este tratamiento pueda aplicarse con bases científicas sólidas.
Subject(s)
Diet, Ketogenic , Epilepsy , Diet, Ketogenic/methods , Humans , Epilepsy/diet therapy , History, 20th CenturyABSTRACT
Coenzyme A (CoA) is an essential cofactor involved in a range of metabolic pathways including the activation of long-chain fatty acids for catabolism. Cells synthesize CoA de novo from vitamin B5 (pantothenate) via a pathway strongly conserved across prokaryotes and eukaryotes. In humans, it involves five enzymatic steps catalyzed by four enzymes: pantothenate kinase (PANK [isoforms 1-4]), 4'-phosphopantothenoylcysteine synthetase (PPCS), phosphopantothenoylcysteine decarboxylase (PPCDC), and CoA synthase (COASY). To date, inborn errors of metabolism associated with all of these genes, except PPCDC, have been described, two related to neurodegeneration with brain iron accumulation (NBIA), and one associated with a cardiac phenotype. This paper reports another defect in this pathway (detected in two sisters), associated with a fatal cardiac phenotype, caused by biallelic variants (p.Thr53Pro and p.Ala95Val) of PPCDC. PPCDC enzyme (EC 4.1.1.36) catalyzes the decarboxylation of 4'-phosphopantothenoylcysteine to 4'-phosphopantetheine in CoA biosynthesis. The variants p.Thr53Pro and p.Ala95Val affect residues highly conserved across different species; p.Thr53Pro is involved in the binding of flavin mononucleotide, and p.Ala95Val is likely a destabilizing mutation. Patient-derived fibroblasts showed an absence of PPCDC protein, and nearly 50% reductions in CoA levels. The cells showed clear energy deficiency problems, with defects in mitochondrial respiration, and mostly glycolytic ATP synthesis. Functional studies performed in yeast suggest these mutations to be functionally relevant. In summary, this work describes a new, ultra-rare, severe inborn error of metabolism due to pathogenic variants of PPCDC.
Subject(s)
Carboxy-Lyases , Cardiomyopathy, Dilated , Humans , Carboxy-Lyases/genetics , Coenzyme A/genetics , Heart , Saccharomyces cerevisiae/geneticsABSTRACT
Objetivos: La prevalencia de niños con dificultades en la alimentación (NDA) o malos comedores es alta en nuestro medio, si consideramos la opinión de los padres. Aunque en la mayoría no observamos enfermedad orgánica o repercusión nutricional, es frecuente que este problema repercuta en la dinámica familiar. Nos proponemos estimar su impacto en el estrés, la calidad de vida y el estado de salud psicológica familiar.Métodos: Estudio de casos (NDA) y controles (controles sanos y controles con trastornos digestivos o controles enfermos). Se evaluó el estrés parental y el riesgo de afectación psicológica en estas familias, mediante escalas validadas (Parent Stress Index Short Form y General Health Questionnaire de Goldberg) y una encuesta de opinión a los padres. Resultados: Se recogieron un total de 238 encuestas: 102 correspondientes a controles sanos, 88 con trastornos digestivos y 48 de NDA. El 45,8% de los padres de NDA se consideraban desatendidos por su pediatra y el 47,9% no estaban de acuerdo con sus recomendaciones. El 54,2% de ellos encuentra limitaciones en su vida social, el 25% problemas de pareja, el 47,9% se sienten juzgados por los demás (12,5% por sus propias parejas) sobre cómo manejan la alimentación de su hijo y un 37,5% habían solicitado o considerado ayuda psicológica. Todos estos problemas fueron significativamente más frecuentes que en los controles. Padres y madres de los NDA presentaron con mayor frecuencia riesgo de ansiedad/depresión según el General Health Questionnaire de Goldberg: un 54,2% según valores de referencia (odds ratios ajustadas frente a controles sanos 4,18; intervalo de confianza del 95% [IC95%]: 1,96 a 8,87; frente a controles enfermos odds ratio 6,25; IC95% 2,79 a 13,98) y un 33,3% según los valores de nuestros controles sanos. Asimismo, presentaron mayores puntuaciones de estrés (Parent Stress Index Short Form) que los controles sanos (diferencia de medias ajustada 21; IC95% 12,19 a 29,81) y controles enfermos (AU)
Objectives: The prevalence of feeding disorders (FDs) and picky eating in children is high in our region, based on the parents perceptions. Although organic disease or a nutritional impact is rarely observed in these children, the problem frequently has an effect on family dynamics. We aimed to estimate the impact of these disorders on the stress level, quality of life and psychological health of families. Methods: Study of cases (FDs) and controls (healthy controls and controls with digestive disorders or sick controls). We assessed parental stress and the risk of psychological distress in these families using validated scales (Parent Stress Index Short Form and Goldberg's General Health Questionnaire) and a parental opinion survey. Results: We collected a total of 238 surveys, 102 corresponding to healthy controls, 88 to controls with digestive disorders and 48 to children with FDs. We found that 45.8% of parents in the FD group felt neglected by their paediatricians and 47.9% did not agree with the paediatrician's recommendations. In addition, 54.2% reported limitations to their social life, 25% problems in their relationship, 47.9% feeling judged by others (12.5% by their own partner) for how they managed mealtimes, and 37.5% having sought or considered seeking psychological support. All these problems were significantly more frequent compared to controls. Based on the Goldberg's General Health Questionnaire, the risk of anxiety and depression was more frequent in parents in the FD group: 54.2% compared to the reference (adjusted odds ratio compared to controls, 4.18; 95% confidence interval [CI], 1.96-8.87; odds ratio compared to sick controls, 6.25; 95% CI, 2.79-13.98) and 33.3% compared to the healthy control group. They also had higher stress scores (Parent Stress Index Short Form) compared to the healthy control group (adjusted mean difference, 21; 95% CI, 12.19-29.81) and the sick control group (adjusted mean difference, 20; 95% CI, 9.81-30.19).
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Feeding Behavior/psychology , Feeding and Eating Disorders , Mother-Child Relations , Case-Control Studies , Surveys and Questionnaires , Health Status , Quality of LifeABSTRACT
OBJECTIVES: The prevalence of feeding disorders (FDs) and picky eating in children is high in our region, based on the parents' perceptions. Although organic disease or a nutritional impact is rarely observed in these children, the problem frequently has an effect on family dynamics. We aimed to estimate the impact of these disorders on the stress level, quality of life and psychological health of families. METHODS: Study of cases (FDs) and controls (healthy controls and controls with digestive disorders or other illness). We assessed parental stress and the risk of psychological distress in these families using validated scales (Parent Stress Index Short Form [PSI-SF] and Goldberg's General Health Questionnaire [GHQ-28]) and a parental opinion survey. RESULTS: We collected a total of 238 surveys, 102 corresponding to healthy controls, 88 to controls with digestive disorders and 48 to children with FDs. We found that 45.8% of parents in the FD group felt neglected by their paediatricians and 47.9% did not agree with the paediatrician's recommendations. In addition, 54.2% reported limitations to their social life, 25% problems in their relationship, 47.9% feeling judged by others (12.5% by their own partner) for how they managed mealtimes, and 37.5% having sought or considered seeking psychological support. All these problems were significantly more frequent compared to controls. Based on the GHQ-28, the risk of anxiety and depression was more frequent in parents in the FD group: 54.2% compared to the reference (adjusted odds ratio [aOR] compared to controls, 4.18; 95% confidence interval [CI], 1.96-8.87; OR compared to sick controls, 6.25; 95% CI, 2.79-13.98) and 33.3% compared to the healthy control group. They also had higher stress scores (PSI-SF) compared to the healthy control group (adjusted mean difference [AMD], 21; 95% CI, 12.19-29.81) and the sick control group (AMD, 20; 95% CI, 9.81-30.19). CONCLUSIONS: Parents of children with FDs have a high level of stress and risk of anxiety and depression, with repercussions at the social, family, couple and work levels. The relationship with the paediatrician may also be affected.
Subject(s)
Quality of Life , Social Change , Child , Humans , Parents/psychology , Anxiety/epidemiology , Surveys and QuestionnairesABSTRACT
OBJECTIVES: We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region. METHODS: Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed. RESULTS: In the period 2011-2020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3/C2 and C3/Met ratios were higher in newborns with PA/MMA/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared. CONCLUSIONS: Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Propionic Acidemia , Vitamin B 12 Deficiency , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acids , Child , Humans , Infant, Newborn , Neonatal Screening/methods , Propionic Acidemia/diagnosis , Tandem Mass Spectrometry , Vitamin B 12 , Vitamin B 12 Deficiency/diagnosisABSTRACT
Introducción: los pacientes que siguen una dieta cetogénica para el control de las crisis epilépticas deben llevar a cabo un estricto control de los hidratos de carbono procedentes tanto de los alimentos que consumen como de los medicamentos que tienen pautados. Tanto en la instauración de la dieta cetogénica como cuando el médico prescribe un medicamento nuevo es necesario el ajuste de la medicación a las formas farmacéuticas más adecuadas, de forma que se minimice el aporte de excipientes en forma de hidratos de carbono de los medicamentos.Objetivos:el objetivo que planteamos en el presente trabajo fue elaborar un listado de medicamentos antiepilépticos de utilización habitual en neurología pediátrica que incluyera información sobre su contenido calórico en forma de hidratos de carbono para la administración a pacientes con dieta cetogénica.Métodos:en cada medicamento incluido en el listado se revisó el contenido en excipientes considerados hidratos de carbono y derivados que pudieran influir en la cetosis del paciente. Se calculó el contenido calórico procedente de los hidratos de carbono y polioles de cada medicamento.Resultados:elaboración de una tabla para consulta del contenido calórico de distintos medicamentos antiepilépticos utilizados en neurología pediátrica para pacientes con dieta cetogénica.Conclusiones:la tabla publicada pretende ser una herramienta útil que permita la consulta del contenido calórico de distintos medicamentos antiepilépticos y la selección del medicamento idóneo que menos afecte a la dieta cetogénica. Con el contenido calórico en carbohidratos de las medicaciones pautadas se podrán realizar los ajustes necesarios en la dieta para mantener la cetosis necesaria. (AU)
Introduction: patients who follow a ketogenic diet for the control of epileptic seizures must carry out a strict control of carbohydrates from the foods they eat and the medicines they are prescribed. In the initiation of a ketogenic diet and when a doctor prescribes a new medication, it is necessary to select the most appropriate pharmaceutical form so that the supply of excipients in the form of carbohydrates from the drugs is minimized.Objectives:the goal of the present paper was to compile a list of carbohydrate and caloric contents in antiepileptic drugs commonly used in pediatric neurology.Methods:in each medication included in the list, the content of excipients considered carbohydrates and derivatives that could influence the patient's ketosis was reviewed. The caloric content from carbohydrates and polyols in each medication was calculated.Results:the table provides the total carbohydrate and caloric content for antiepileptic medications in pediatric patients consuming the ketogenic diet.Conclusions:this table is intended to be a useful tool to help clinicians select a pharmaceutical form that is less likely to affect the ketogenic diet. Additionally, knowing the carbohydrate content of a new medication will allow adjustment of the diet to maintain ketosis. (AU)
Subject(s)
Humans , Anticonvulsants/therapeutic use , Anticonvulsants/chemistry , Carbohydrates/analysis , Pharmaceutic Aids/analysis , Diet, Ketogenic , KetosisABSTRACT
BACKGROUND: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. METHODS: Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. RESULTS: Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p < 0.001). CONCLUSIONS: Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.
Subject(s)
Fructose Intolerance , Humans , Fructose Intolerance/chemically induced , Folic Acid , Ascorbic Acid , Vitamins , Fructose , Vitamin B 12ABSTRACT
Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis of its triggering disease. In small children it is a rare condition usually associated to inborn errors of the metabolism. As age rises, and especially in adults, it may be precipitated by heterogeneous causes such as liver disease, drugs, urinary infections, shock, or dehydration. In older patients, it is often overlooked, or its danger minimized. This protocol was drafted to provide an outline of the clinical measures required to normalise ammonia levels in patients of all ages, aiming to assist clinicians with no previous experience in its treatment. It is an updated protocol developed by a panel of experts after a review of recent publications. We point out the importance of frequent monitoring to assess the response to treatment, the nutritional measures that ensure not only protein restriction but adequate caloric intake and the need to avoid delays in the use of specific pharmacological therapies and, especially, extrarenal clearance measures. In this regard, we propose initiating haemodialysis when ammonia levels are >200−350 µmol/L in children up to 18 months of age and >150−200 µmol/L after that age.
Subject(s)
Hyperammonemia , Liver Diseases , Adult , Aged , Ammonia/metabolism , Child , Humans , Hyperammonemia/diagnosis , Hyperammonemia/etiology , Hyperammonemia/therapy , Liver Diseases/complications , Prognosis , Renal Dialysis/adverse effectsABSTRACT
Introducción: Existen diversas escalas diseñadas para determinar el riesgo de desnutrición al ingreso hospitalario en población infantil, sin embargo, la mayor parte de estos instrumentos se desarrollan y publican en lengua inglesa, siendo preceptiva su adaptación transcultural y validación para poder ser utilizados en nuestro país.Objetivos: Adaptar transculturalmente 3 escalas diseñadas para determinar el riesgo de desnutrición ligada a la enfermedad y determinar la validez de su contenido.Material y métodos: Adaptación transcultural mediante el método de traducción-retrotraducción de acuerdo con las recomendaciones de la International Test Commission Guidelines for Translating and Adapting Tests. Se midió la validez de contenido a través de un panel de expertos (bajo 7 criterios básicos de selección adaptados del modelo Fehring) que evaluaron cada ítem de las escalas midiendo 4 criterios: ambigüedad, sencillez, claridad y relevancia. Con la puntuación extraída se obtuvo el estadístico V de Aiken para cada ítem y para las escalas completas.Resultados: Partiendo de 3 traducciones independientes por escala se obtuvieron 3 versiones definitivas en castellano de las escalas PNRS, STRONGkids y STAMP semánticamente equivalentes a sus versiones originales. Las escalas PNRS y STRONGkids presentaron una V de Aiken superior a 0,75 en todos sus ítems, mientras que escala STAMP presentó un valor inferior a 0,75 para el ítem «peso y altura».Conclusión: Este estudio aporta las versiones en castellano adaptadas transculturalmente de las escalas PNRS, STRONGkids y STAMP. Las escalas PNRS y STRONGkids presentan un contenido válido para ser aplicadas en el contexto hospitalario estatal. STAMP requiere la adaptación de su ítem «peso y altura» para considerar adecuado su uso en población infantil española. (AU)
Introduction: There are various scales designed to determine the risk of malnutrition at hospital admission in children. However, most of these instruments are developed and published in English. Their cross-cultural adaptation and validation being mandatory in order to be used in our country.Objectives: Cross-culturally adapt three scales designed to determine the risk of malnutrition linked to the disease and determine the validity of their content.Material and methods: Cross-cultural adaptation using the translation-back-translation method in accordance with the recommendations of the International Test Commission Guidelines for Translating and Adapting Tests. Content validity was measured by a panel of experts (under seven basic selection criteria adapted from the Fehring model) who evaluated each item of the scales by measuring 4 criteria: ambiguity, simplicity, clarity and relevance. With the extracted score, Aiken's V statistic was obtained for each item and for the complete scales.Results: Starting from three independent translations per scale, 3 definitive versions in Spanish of the PNRS, STRONGkids and STAMP scales were obtained semantically equivalent to their original versions. The PNRS and STRONGkids scales presented an Aiken's V greater than 0.75 in all their items, while the STAMP scale presented a value less than 0.75 for the item weight and height.Conclusion: This study provides the transculturally adapted Spanish versions of the PNRS, STRONGkids and STAMP scales. The PNRS and STRONGkids scales present valid content to be applied in the state hospital context. STAMP requires the adaptation of its item weight and height to consider its use in a Spanish child population adequate. (AU)
Subject(s)
Humans , Child, Preschool , Child , Malnutrition , Cultural Diffusion , Hospitalization , Translating , Spain , Child Nutrition DisordersABSTRACT
AIM: Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with epilepsy. Our purpose was to evaluate the effects of KDT in children with refractory epilepsy (effectiveness, side effects, impact on nutritional status and growth). METHODS: A retrospective and prospective observational descriptive study was conducted in a Spanish tertiary hospital (January 2000 to December 2018). One hundred sixty pediatric patients with epilepsy were treated with KDT (82 males; mean age 5 years 9 months). Seizures, anti-epileptic drugs, anthropometric measures, side effects, and laboratory assessment were monitored baseline and at 3, 6, 12 and 24 months after the onset of KDT. RESULTS: In these time intervals, the seizure-free patients were: 13.7, 12.5, 14.4 and 10.6%, respectively, and a reduction of seizures ≥ 50% was achieved in 41.9, 37.5, 28.7 and 16.2%. Side effects were frequent, especially digestive disorders, hypercalciuria, hypoglycemia, hepatic dysfunction and dyslipidemia. Prealbumin, retinol binding protein, vitamin A and magnesium decreased significantly. Height was affected, especially in children below 2 years. CONCLUSIONS: KDT are effective for refractory epilepsy in children. However, adverse effects are frequent, and it may affect nutritional status and growth.
Subject(s)
Diet, Ketogenic , Drug Resistant Epilepsy , Epilepsy , Child , Child, Preschool , Diet, Ketogenic/adverse effects , Humans , Male , Retrospective Studies , SeizuresABSTRACT
INTRODUCTION: There are various scales designed to determine the risk of malnutrition at hospital admission in children. However, most of these instruments are developed and published in English. Their cross-cultural adaptation and validation being mandatory in order to be used in our country. OBJECTIVES: Cross-culturally adapt three scales designed to determine the risk of malnutrition linked to the disease and determine the validity of their content. MATERIAL AND METHODS: Cross-cultural adaptation using the translation-back-translation method in accordance with the recommendations of the International Test Commission Guidelines for Translating and Adapting Tests. Content validity was measured by a panel of experts (under seven basic selection criteria adapted from the Fehring model) who evaluated each item of the scales by measuring 4 criteria: ambiguity, simplicity, clarity and relevance. With the extracted score, Aiken's V statistic was obtained for each item and for the complete scales. RESULTS: Starting from three independent translations per scale, 3 definitive versions in Spanish of the PNRS, STRONGkids and STAMP scales were obtained semantically equivalent to their original versions. The PNRS and STRONGkids scales presented an Aiken's V greater than 0.75 in all their items, while the STAMP scale presented a value less than 0.75 for the item "weight and height". CONCLUSION: This study provides the transculturally adapted Spanish versions of the PNRS, STRONGkids and STAMP scales. The PNRS and STRONGkids scales present valid content to be applied in the state hospital context. STAMP requires the adaptation of its item "weight and height" to consider its use in a Spanish child population adequate.
Subject(s)
Cross-Cultural Comparison , Malnutrition , Child , Humans , TranslationsABSTRACT
Introducción: Las terapias dietéticas cetogénicas (TDC) tienen efecto neuroprotector y anticonvulsivante, reducen las crisis epilépticas y mejoran el estado cognitivo en pacientes epilépticos. Nuestro propósito fue evaluar los efectos de las TDC en niños con epilepsia refractaria (eficacia, efectos secundarios, impacto en el estado nutricional y crecimiento).Métodos: Se realizó un estudio observacional descriptivo retrospectivo y prospectivo en un hospital terciario español (enero de 2000-diciembre de 2018). Ciento sesenta pacientes pediátricos con epilepsia fueron tratados con TDC (82 varones; edad media 5 años 9 meses). Las convulsiones, los fármacos antiepilépticos, la antropometría, los efectos secundarios y los parámetros analíticos se controlaron al inicio del tratamiento y a los 3, 6, 12 y 24 meses.Resultados: En estos intervalos los pacientes libres de crisis fueron: 13,7%, 12,5%, 14,4% y 10,6%, respectivamente, lográndose una reducción de las convulsiones≥50% en el 41,9%, 37,5%, 28,7% y 16,2%. Los efectos secundarios fueron frecuentes, especialmente trastornos digestivos, hipercalciuria, hipoglucemia, disfunción hepática y dislipidemia. La prealbúmina, la proteína de unión al retinol, la vitamina A y el magnesio disminuyeron significativamente. La talla se vio afectada, especialmente en niños menores de 2 años.Conclusiones: Las TDC son efectivas para la epilepsia refractaria infantil. Sin embargo, los efectos adversos son frecuentes y pueden afectar al estado nutricional y al crecimiento. (AU)
Aim: Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with epilepsy. Our purpose was to evaluate the effects of KDT in children with refractory epilepsy (effectiveness, side effects, impact on nutritional status and growth).Methods: A retrospective and prospective observational descriptive study was conducted in a Spanish tertiary hospital (January 2000 to December 2018). One hundred sixty pediatric patients with epilepsy were treated with KDT (82 males; mean age 5 years 9 months). Seizures, anti-epileptic drugs, anthropometric measures, side effects, and laboratory assessment were monitored baseline and at 3, 6, 12 and 24 months after the onset of KDT.Results: In these time intervals, the seizure-free patients were: 13.7, 12.5, 14.4 and 10.6%, respectively, and a reduction of seizures≥50% was achieved in 41.9, 37.5, 28.7 and 16.2%. Side effects were frequent, especially digestive disorders, hypercalciuria, hypoglycemia, hepatic dysfunction and dyslipidemia. Prealbumin, retinol binding protein, vitamin A and magnesium decreased significantly. Height was affected, especially in children below 2 years.Conclusions: KDT are effective for refractory epilepsy in children. However, adverse effects are frequent, and it may affect nutritional status and growth.(AU)
Subject(s)
Humans , Child, Preschool , Child , Diet, Ketogenic , Drug Resistant Epilepsy , Anticonvulsants , Neuroprotective Agents , Epidemiology, Descriptive , Retrospective Studies , Prospective Studies , SpainABSTRACT
Introduction: Introduction: patients who follow a ketogenic diet for the control of epileptic seizures must carry out a strict control of carbohydrates from the foods they eat and the medicines they are prescribed. In the initiation of a ketogenic diet and when a doctor prescribes a new medication, it is necessary to select the most appropriate pharmaceutical form so that the supply of excipients in the form of carbohydrates from the drugs is minimized. Objectives: the goal of the present paper was to compile a list of carbohydrate and caloric contents in antiepileptic drugs commonly used in pediatric neurology. Methods: in each medication included in the list, the content of excipients considered carbohydrates and derivatives that could influence the patient's ketosis was reviewed. The caloric content from carbohydrates and polyols in each medication was calculated. Results: the table provides the total carbohydrate and caloric content for antiepileptic medications in pediatric patients consuming the ketogenic diet. Conclusions: this table is intended to be a useful tool to help clinicians select a pharmaceutical form that is less likely to affect the ketogenic diet. Additionally, knowing the carbohydrate content of a new medication will allow adjustment of the diet to maintain ketosis.
Introducción: Introducción: los pacientes que siguen una dieta cetogénica para el control de las crisis epilépticas deben llevar a cabo un estricto control de los hidratos de carbono procedentes tanto de los alimentos que consumen como de los medicamentos que tienen pautados. Tanto en la instauración de la dieta cetogénica como cuando el médico prescribe un medicamento nuevo es necesario el ajuste de la medicación a las formas farmacéuticas más adecuadas, de forma que se minimice el aporte de excipientes en forma de hidratos de carbono de los medicamentos. Objetivos: el objetivo que planteamos en el presente trabajo fue elaborar un listado de medicamentos antiepilépticos de utilización habitual en neurología pediátrica que incluyera información sobre su contenido calórico en forma de hidratos de carbono para la administración a pacientes con dieta cetogénica. Métodos: en cada medicamento incluido en el listado se revisó el contenido en excipientes considerados hidratos de carbono y derivados que pudieran influir en la cetosis del paciente. Se calculó el contenido calórico procedente de los hidratos de carbono y polioles de cada medicamento. Resultados: elaboración de una tabla para consulta del contenido calórico de distintos medicamentos antiepilépticos utilizados en neurología pediátrica para pacientes con dieta cetogénica. Conclusiones: la tabla publicada pretende ser una herramienta útil que permita la consulta del contenido calórico de distintos medicamentos antiepilépticos y la selección del medicamento idóneo que menos afecte a la dieta cetogénica. Con el contenido calórico en carbohidratos de las medicaciones pautadas se podrán realizar los ajustes necesarios en la dieta para mantener la cetosis necesaria.
Subject(s)
Diet, Ketogenic , Ketosis , Anticonvulsants/therapeutic use , Child , Dietary Carbohydrates , Excipients , Humans , Ketosis/drug therapyABSTRACT
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be performed to confirm the diagnosis. In this work, we have collected and analyzed the NBS results and confirmatory test results (plasma AC, molecular findings, and lymphocyte MCAD activity) of forty individuals, correlating them with clinical outcomes and treatment, with the aim of obtaining useful diagnostic information that could be applied in the follow-up of the patients. Our results led us to classify patients into two groups. The first group (14 cases) had high increased octanoylcarnitine (C8) levels, biallelic pathogenic variants, and severe impaired enzyme activity (<10% of the intra-assay control (IAC)); all of these cases received nutritional therapy and required carnitine supplementation during follow-up, representing the most severe form of the disease. The second group (16 patients) was a heterogeneous group presenting moderate increases in C8, biallelic likely pathogenic/pathogenic variants, and intermediate activity (<41% IAC). All of them are currently asymptomatic and could be considered as having a milder form of the disease. Finally, eight cases presented a normal−mild increase in plasma C8, with only one pathogenic variant detected, and high−intermediate residual activity (15−100%). Based on our results, we confirm that combined evaluation of acylcarnitine profiles, genetic findings, and residual enzyme activities proves useful in predicting the risk of future metabolic decompensation, in making decisions regarding future treatment or follow-up, and also in confirming the clinical effects of unknown clinical variants.
ABSTRACT
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at newborn screening result (1 LCHADD, 5 PA, 1 CPT-II deficiency, 1 MMA, 3 MMAHC, 2 MSUD, 2 OTC deficiency, 1 CTLN1, 1 MCADD, 2 TYR-1). No false negative cases were identified. Genetic diagnosis was conclusive in all biochemically confirmed cases, except for two infants with HPA, identifying pathogenic variants in 32 different genes. The conditions with the highest incidence were HPA (1/6661) and MCAD deficiencies (1/13 787).
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Background: Ketogenic dietary therapies (KDT) are used as a treatment in childhood epilepsy. However, their mechanism has not yet been established. The main objective of this study was to determine the changes in the transcriptomic profile induced by KDT in children with epilepsy in order to shed light on its possible mechanisms. Methods: Eight children with refractory epilepsy were enrolled in the study. Peripheral blood mononuclear cells were obtained before and after the children were treated with KDT for a minimum of 6 months. RNA was extracted and mRNA and miRNA profiling were performed and analyzed. Results: Our intervention with KDT significantly reduced the seizure number in seven of the eight paediatric patients treated and caused important changes in their gene expression profile. Our study reveals modifications in the transcription of 4630 genes and 230 miRNAs. We found that the genes involved in the protection against epileptic crises were among those mainly changed. These genes collectively encode for ion channels, neurotransmitter receptors, and synapse structural proteins. Conclusions: Together our results explain the possible mechanisms of KDT and reinforce its clinical importance in the treatment of epilepsy.
Subject(s)
Diet, Ketogenic , Drug Resistant Epilepsy/diet therapy , Drug Resistant Epilepsy/metabolism , MicroRNAs/metabolism , Transcriptome , Child , Child, Preschool , Female , Humans , Infant , Male , Outcome Assessment, Health CareABSTRACT
No standardized approach towards nutritional screening and assessment of pediatric oncology patients has been established. The nutrition screening tool for childhood cancer (SCAN) has been previously published as an effective screening method. This is an observational cross-sectional study to assess the validity and reliability of the SCAN tool, compare it to the detection of undernutrition using standard measures of assessment, and determine the overall prevalence of malnutrition and micronutrients alterations in our cohort. We included children newly diagnosed with cancer in a pediatric tertiary hospital in Madrid, Spain from August 2018 to May 2019. The following measurements were performed: SCAN questionnaire, anthropometric measurements, nutritional markers in blood, and micronutrient levels. A total of 49 patients were included. 22 patients (45%) were at risk of malnutrition according to the SCAN questionnaire. Four patients (8%) could be diagnosed with moderate undernutrition. These undernourished patients were distributed homogeneously among at-risk and not at-risk populations identified by the SCAN tool. Several micronutrient deficiencies were identified. We conclude that the SCAN questionnaire is an easy-to-use tool for everyday clinical practice. By not including anthropometric measurements it misses patients considered to be malnourished. Future data might help clarify if it is an effective tool in predicting a higher nutritional risk during the entire treatment course.