Reproducibility and Inter-rater Reliability of 2 Paediatric Nutritional Screening Tools.

OBJECTIVES: The aim of the present study was to assess reproducibility and inter-rater reliability of 2 nutritional screening tools (NST): Screening Tool for Risk on Nutritional Status and Growth (STRONGkids) and Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP). METHODS: Prospective observational multicentre study. Patients ages 1 month or older admitted to paediatric or surgical wards were tested within 24 hours of admission by 2 independent observers: experts specialized in paediatric nutrition (physicians or dieticians) and clinical staff nonexpert in nutrition. Diagnosis on admission, underlying diseases, and length of stay were registered. STATISTICAL ANALYSIS: Kappa index (κ) to evaluate agreement between observers. RESULTS: A total of 223 patients were included (53.4% boys), with mean age of 5.59 (95% confidence interval 4.94-6.22) years. Experts classified 9.9% of patients at high risk with STRONGkids and 19.7% using STAMP, whereas nonexpert staff assigned 6.7% of patients to the high-risk category with STRONGkids and 21.9% with STAMP. Agreement between expert and nonexpert staff was good: 94.78% for STRONGkids (κ 0.72 [P < 0.001]); 92.55% for STAMP (κ 0.74 [P < 0.001]). The rate of malnutrition was significantly higher among high-risk patients with both NST, independent of examiner experience. After adjusting for age, both STRONGkids and STAMP high-risk scores predicted longer length of stay, whether assessed by experts or nonexperts, although differences were higher with STRONGkids. CONCLUSIONS: Agreement between experts and nonexpert staff in nutrition was good, producing a similar high-risk patient profile. Our results demonstrate that these NSTs are appropriate for nutritional screening in settings in which users have no previous experience in the field.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

BACKGROUND: Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS: Observational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients with UCDs, treated in the metabolic diseases centers in Spain between February 2012 and February 2013, covering the entire Spanish population. Heterozygous mothers of patients with OTC deficiency were only included if they were on treatment due to being symptomatic or having biochemistry abnormalities. RESULTS: 104 patients from 98 families were included. Ornithine transcarbamylase deficiency was the most frequent condition (64.4%) (61.2% female) followed by type 1 citrullinemia (21.1%) and argininosuccinic aciduria (9.6%). Only 13 patients (12.5%) were diagnosed in a pre-symptomatic state. 63% of the cases presented with type intoxication encephalopathy. The median ammonia level at onset was 298 µmol/L (169-615). The genotype of 75 patients is known, with 18 new mutations having been described. During the data collection period four patients died, three of them in the early days of life. The median current age is 9.96 years (5.29-18), with 25 patients over 18 years of age. Anthropometric data, expressed as median and z-score for the Spanish population is shown. 52.5% of the cases present neurological sequelae, which have been linked to the type of disease, neonatal onset, hepatic failure at diagnosis and ammonia values at diagnosis. 93 patients are following a protein restrictive diet, 0.84 g/kg/day (0.67-1.10), 50 are receiving essential amino acid supplements, 0.25 g/kg/day (0.20-0.45), 58 arginine, 156 mg/kg/day (109-305) and 45 citrulline, 150 mg/kg/day (105-199). 65 patients are being treated with drugs: 4 with sodium benzoate, 50 with sodium phenylbutyrate, 10 with both drugs and 1 with carglumic acid. CONCLUSIONS: Studies like this make it possible to analyze the frequency, natural history and clinical practices in the area of rare diseases, with the purpose of knowing the needs of the patients and thus planning their care.