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Background. Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood and in other tissues, including the brain, causing irreversible neurological damage if left untreated. Lowphenylalanine diet is a key component of classical PKU therapy. Objectives. The objective of this study was to assess the effectiveness of classical phenylketonuria therapy and compliance with doctors' recommendations in the first 5 years of life. Material and methods. Data was collected from all diagnosed and treated patients (n = 57) born 1999-2010. Phenylalanine blood levels, the number of visits to a specialist outpatients' center, the number of blood tests, as well as socioeconomic status (SES) and parents' education level have been analyzed, and potential relationships have been assessed. Results. In the 1 st year of life patients visited their doctors (odds ratio (OR) = 6.8267; 95% confidence interval (95% CI) = 2.827-16.5163; p < 0.0001) and had their blood collected (OR = 2.7875; 95% CI = 1.0467-7.4234; p < 0.0402) significantly more frequently than in the 2 nd year. This tendency persisted into subsequent years. Similarly, in infancy they had statistically significantly lower odds of exceeding more than 40% of their Phe levels over therapeutic range than 1 year later (OR = 3.6078; 95% CI = 1.4859-8.7599; p < 0.0046). No PKU child had more than 70% of Phe levels over the therapeutic range in the 1 st year of life, whereas 4 years later there were 18 such children. Phe levels were correlated with the number of visits to a specialist (ρ = 0.39) and the number of Phe blood tests with index of dietary control (ρ = −0.33). The effectiveness of therapy and compliance with the doctor's recommendations seem to depend neither on the level of education of the patient's parents nor on their SES. Conclusions. Therapy effectiveness and patients' compliance in PKU is very good in infancy. However, both deteriorate in subsequent years. Moreover, they do not seem to depend on the family background.

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No gold standard is available to evaluate subjective psychophysical experiences in pediatric inflammatory bowel disease (IBD). We aimed to assess pain, anxiety, and limitations in social activities at diagnosis and the worst flare of the disease in relation to clinical expression, treatment and IBD severity. A total of 376 children completed the survey (Crohn’s disease (CD) n = 196; ulcerative colitis (UC) n = 180). The questionnaire included 12 questions regarding pain, anxiety, and social activity, all assessed at recruitment and retrospectively at diagnosis and worst flare using a numeric rating scale. Patients that had ever been treated with systemic glucocorticosteroids scored higher in pain (p < 0.001), anxiety (p = 0.015), and social activity domains (p < 0.016) at worst flare, and the answers correlated with the number of steroid courses (p < 0.0392). The perception of social activity limitations also correlated independently with the number of immunosuppressants (p < 0.0433) and biological agents (p < 0.0494). There was no difference in retrospective perception of pain, anxiety and social activity limitations between CD and UC patients at diagnosis and the worst flare. The level of limitations in social activity correlated with hospitalisations due to relapse, days spent in the hospital, number of relapses, and severe relapses with the strongest association of rho = 0.39 (p = 0.0004). Subjective and retrospective perception of pain, anxiety, and limitations in social activity differs depending on therapy, correlates with treatment modalities, and severity measures such as hospitalisations.

Introduction. There are a few available studies evaluating quality of life (QoL) in pediatric patients with supraventricular tachycardia (SVT) treated with ablation but they are based on small groups of patients. The aim of the paper was to compare the QoL in children with SVT treated with successful ablation with the group of healthy children.Materials and Methods. The study included 122 SVT children who underwent a successful ablation therapy and 83 healthy children. The Qol was assessed, using the WHOQOL-BREF and the Pediatric Arrhythmia Related Score (PARS) - a specific questionnaire developed by the authors, related to patients' own feelings and observations concerning arrhythmia.Results. On the basis of WHOQOL-BREF no significant differences were found in all the measured domains. On the basis of PARS in SVT-group the patients still reported significantly increased symptoms within physical domain in comparison with the healthy group (1.8 ± 0.5 vs 1.6 ± 0.3; p = 0.0195) as well as increased negative feelings within psychological domain (2.3 ± 0.7 vs 2.1 ± 0.6; p= 0.0172). Conclusions. On the basis of the general questionnaire all scores in SVT group are comparable with healthy children. When analyzing PARS questionnaire six months after the ablation procedure the physical and psychological functioning of SVT children was still worse than in the group of healthy children. On the basis of the performed analysis we believe that PARS questionnaire is a more useful and sensitive tool than WHOQOL-BREF when evaluating ablation influence on patients’ QoL.

IntroductionThere are only a few available studies evaluating quality of life (QoL) in pediatric patients with cardiac arrhythmia. The aim of the study was to evaluate medical and psychological parameters of the QoL in children with a diagnosed supraventricular tachyarrhythmia (SVT) and to compare the obtained data with a group of healthy children (HC).Material and methodsInclusion criteria: children aged 7–18 with SVT, treated at Poznan University of Medical Sciences, Department of Pediatric Cardiology. The evaluation tools were the WHOQOL-BREF instrument and a questionnaire related to the patient's feelings and observations concerning arrhythmia (Pediatric Arrhythmia Related Score – PARS), developed by the authors and adjusted to the group of arrhythmia patients.ResultsThe study included 180 SVT children and 83 HC. On the basis of WHOQOL-BREF the SVT group was found to have lower assessment values of QoL within the physical domain (Phd) (mean ± SD: 65.7 ±15.8 vs. 81.6 ±12.8; p < 0.0001) and psychological domain (Psd) (mean ± SD: 75.8 ±15.2 vs. 81.3 ±14.1; p < 0.005). No significant differences were found within the social relationships domain or the environment domain. On the basis of PARS in the SVT group the patients reported significantly increased symptoms within Phd (mean ± SD: 2.3 ±0.7 vs. 1.6 ± 0.3; p < 0.0001) as well as increased negative feelings within Psd (mean ± SD: 2.3 ±0.7 vs. 2.1 ± 0.6; p < 0.005).ConclusionsMedical and psychological parameters of the QoL in SVT children are significantly lower in comparison with HC. A diagnosis of SVT has no influence on the social and environmental areas of QoL. The PARS appears to be a useful tool to supplement the generic questionnaire for QoL evaluation in SVT children.

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