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WOS: 000442229500021, PubMed ID: 30101073, Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. Methods: We sent a cross sectional, survey monkey (R) questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. Results: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months. 53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, >= 26 weeks in 12% and < 17 weeks in 3%. Discussion: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development., Vitaflo, We thank Vitaflo for supporting the publication cost of this paper.

IntroductionDeficits in social functioning are a core feature of schizophrenia and are influenced by both symptomatic and neurocognitive variables.ObjectivesIn the present study we aimed to determine the reliability and validity of the Portuguese version of the Personal and Social Performance (PSP) scale, and possible correlations with measures of cognitive functioning.MethodsOne-hundred and four community and inpatients with schizophrenia were assessed using measures of social functioning and symptom severity alongside measures of executive function, processing speed and verbal memory.ResultsThe reliability of the PSP was found to be satisfactory, with a Cronbach's alpha coefficient of 0.789. Inter-rater reliability in the four domains of the PSP varied from 0.430 to 0.954. Low-functioning patients (PSP < 70) were older, had longer duration of illness, were more symptomatic and had worse cognitive performances, as compared to high-functioning patients (PSP ≥ 70). In a regression model, deficits in social functioning were strongly predicted both by symptomatic and neurocognitive variables; these together accounted for up to 62% of the variance.ConclusionsThe present study supports the reliability and validity of the Portuguese language version of the PSP and further supports the original measure. The co-administration of brief cognitive assessments with measures of functioning may lead to more focused interventions, possibly improving outcomes in this group.

Objective To assess the evolution of nutritional status and dietary intake in a group of patients with cystic fibrosis (CF) after implementation of a systematic nutritional approach. Methods Prospective study with 39 patients followed in a CF center in Lisbon. All data were collected in two different timepoints: T 0 (2012) and T2 (2014). We recorded demographic and clinical data: sex, age, genotype, pancreatic and pulmonary function; anthropometric parameters: weight, height and body mass index (BMI); dietary intake was assessed by 24 h recall. Statistical analysis: IBM®SPSS®22. Results Thirty-nine patients were included; 53.8% were male; age 10.0±4.5 y in T0 and 11.0±4.5 y in T2. The most common genotype was DF508 homozygotic (76.9%); 92.3% had pancreatic insufficiency. FEV1 decreased from 88.9±22.9% (T0) to 85.9±24.5% (T2). According to BMI, 23.1% (T0) and 20.5% (T2) had underweight, 61.5% (T0) and 69.2% (T2) were eutrophic and 15.4% (T0) and 10.3% (T2) had excess weight. A positive correlation between FEV1 and z-score of BMI was found in both evaluation moments (T0: r=0.530, p=0.002; T2: r=0.463, p=0.007). Regarding dietary intake, patients consumed 1987 kcal in T0 and 2436 kcal in T2 and 19% protein, 47.4% carbohydrates and 31.9% fats in T0 and 17.8% protein, 43.9% carbohydrates and 32.1% fats in T2. Percentage of patients with nutritional supplementation decreased from 51.3% in T 0 to 35.9% in T 2 . The nutritional status of our sample had a significant improvement due to a structured nutritional approach, since there was a decrease in the prevalence of under and over nutrition. Additionally we observed a decrease of the prescription of nutritional supplements without impact on the nutritional status and dietary intake.

Introduction Cystic Fibrosis (CF) patients develop sleep hypoxemia and hypercapnia in the course of disease.The magnitude of nocturnal oxygen desaturation (NOD) may correlate with the severity of lung disease and the development of pulmonary hypertension.In children studies are scarce and controversial.Aim: to identify predictive factors of NOD using nocturnal Oxygen Desaturation Index (ODI) and its association with clinical severity in CF children. Materials and methods Twenty-four CF patients were included, January 2012 to June 2013.Clinical files were reviewed and data about nutritional status (BMI z -score), hospitalizations, bacterial isolates and pattern, and X-ray imaging findings were collected.Patients underwent a nocturnal pulse oximetry and ODI was classified as normal ( Results Twenty-four patients, median age 12.5 years (min7; max 18), twelve (50%) are homozygous for delF508.Twelve (50%) patients had nocturnal hypoxemia, either mild (6;50%), moderate (3;25%) or severe (3;25%).Twenty-two patients (92%) had bacterial isolates, sixteen (67%) of which were chronic.Seven patients (29%) had been hospitalized during the period of study.None children had a normal imaging and sixteen (67%) had bronchiectasis.No correlation was found between ODI and number of hospitalizations, total number and chronic isolates, microorganisms identified, BMI z-score and imaging changes.After ODI severity stratification, a significant correlation was found between moderate ODI and number of chronic isolates ( ρ = 0.999, p = 0.021).Although non significant, we found a moderate correlation between mild ODI and total number of isolates ( ρ = 0.639, p = 0.172) and isolation of MRSA ( ρ = 0.644, p = 0.150), moderate ODI and isolation of MRSA ( ρ = 0.866, p = 0.333) and severe ODI and isolation of B. cepacia ( ρ = 0.866, p = 0.333). Conclusion We couldn’t find a correlation between ODI and clinical severity.The only factor that showed a strong and statistically significant ODI correlation was the number of chronic bacterial isolations in the moderate ODI group.The small number of patients may explain some of the non-significant correlations, further and larger studies in children are needed. Acknowledgements - Dr. Rita Jotta – Patients and their families.

Introduction: Cystic Fibrosis (CF) is characterized by respiratory infections and malabsorption. The hypercatabolism inherent to CF, affects the nutritional requirements and, consequently, the nutritional status. Objectives: Assess the nutritional status of patients with CF and compare the dietary intake with the nutritional state and requirements. Methods: Cross-sectional observational study, 40 patients followed in a specialized CF center in Lisbon were included. A questionnaire was applied to the patient/care taker, which included a 48 h recall. Clinical and anthropometric parameters were recorded. The sample was divided in 5 groups: G1:7−12M; G2 1−3Y; G3: 4−8Y; G4: 9−13Y: G5: 14−18Y. Statistic analysis by SPSS v.20.0. Results: 40 patients were evaluated; 51.2%female; average age of 9.4±5.0 Y. The diagnosis, was made in 25% between 6W and 6M and 25% between 1 and 5Y. No correlation was found between the age of diagnosis and the BMI z-score. A positive correlation was found in G1 and G2 between the energetic intake and BMI (r = 1, p = 0.00; r = 0.835, p = 0.039, respectively). The average pulmonary function (FEV1) was 88.9±22.9%; it was also found a positive correlation with BMI (p = 0.00). It was observed that 42.5% of the patients did supplementation and that the protein free powder was the most prescribed. It was also observed that the patients with supplementation had lower pulmonary function and BMI (p = 0.018 e p = 0.034, respectively). Conclusion: In conclusion the nutritional state, according to the z-score of BMI, is better on G3(4−8Y) and G5(14−18Y). However, only a small part of the sample reached the requirements in which G4(9−13Y) had the higher fulfillment percentage.