Prospective validation of the nutrition screening tool for childhood cancer (SCAN).

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.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

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).

Validity and Reliability of a Nutritional Screening Tool (SCAN) in Children Newly Diagnosed with Cancer.

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.

Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric cases.

Hyperammonemic encephalopathy is a rare but potentially dangerous complication of the antiepileptic drug (AED) sodium valproate (VPA). We report a retrospective study of 25 pediatric patients, (15 females [60%]; age: 7.6 ± 4.9 years), with different underlying disorders, who suffered from hyperammonemia due to VPA and who were treated with carglumic acid (CA). The duration of treatment with VPA was 15 ± 1 month, with a dose of 40 ± 16.6 mg/kg/d. VPA blood levels were 75.5 ± 60 mg/L with seven patients being overdosed (>100 mg/L). Twenty-three patients received concomitant treatment with other AEDs. The initial dose of CA was 100 mg/kg. Subsequently, CA doses of 25 mg/kg were given to 22 patients every 6 hours (average treatment length 2.17 ± 1.1 days) until ammonemia was normalized. In nine patients, CA was used in combination with other drugs to treat hyperammonemia. In all cases, blood ammonia levels were brought under control and symptoms of hyperammonemia resolved. Two hours after CA administration, the average reduction in ammonium levels was 53 ± 29 and 88.6 ± 47.5 µmol/L at 24 hours, resulting in a statistically significant decrease when compared to pretreatment levels. There were no statistically significant differences between sexes, in the presence or not of cognitive impairment or previous carnitine treatment. There were no statistically significant differences when comparing treatment with CA plus ammonia scavengers vs CA alone. In 17 patients (68%) VPA was discontinued and 62% of the patients who maintained treatment had recurrent episodes of hyperammonemia.