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Background: Constipation and encopresis frequently cause problems with respect to emotional wellbeing, and social and family life. Instruments to measure Heakh Related Quality of Life (HRQoL) in these disorders are not available. Methods: A disease specific HRQoL instrument, the "Defecation Disorder List" (DDL) for children with constipation or functional non-retentive faecal soiling (FNRFS) was developed using accepted guidelines. For each phase of the process, different samples of patients were used. The final phase of development included 27 children. Reliability was assessed in two ways: internal consistency of domains with Cronbach's alpha, and test-retest reliability with intra-class correlation coefficients (ICC). To assess validity, comparable items and domains were correlated with Tacqol, a generic HRQoL instrument for children (TNO-AZL). Results: In the final phase of the development, 27 children completed the instrument. It consisted of 37 items in four domains. The response rate was 96%. Reliability was good for all domains, with Cronbach's alpha values ranging from 0.61 to 0.76. Measures of test-retest stability were good for all four domains with ICCs ranging from 0.82 to 0.92. Validity based on comparison with the Tacqol instrument was moderate. Conclusion: The DDL is promising as a measure of HRQoL in childhood defecation disorders. [ABSTRACT FROM AUTHOR]

Aim: To examine which response options children prefer and which they find easiest to use, and to study the relative reliability of the different response options.Methods: A consecutive group of unselected children (n = 120) filled out three questionnaires in a paediatric outpatient clinic. Each questionnaire included seven similar questions, but had different response options: the Likert scale, the Visual Analogue Scale (VAS) and the numeric VAS. In general, the questions were not related to the children's particular diseases, but dealt with the frequency of simple activities, their feelings and opinions. The pages with the three different response options were offered in random order. Afterwards, the children rated their preference and ease of use of the different response options on a scale from one to 10.Results: Children preferred the Likert scale (median mark 9.0) over the numeric VAS (median mark 8.0) and the simple VAS (median 6.0). They considered the Likert scale easiest to fill out (median mark 10 vs 9 and 7.5 for the numeric and simple VAS, respectively). Results of the different response options correlated strongly with each other (rho = 0.67-0.90, p < 0.05).Conclusion: Children prefer the Likert scale over the numeric and simple VAS and find it easiest to complete. The Likert scale, the simple VAS and the numeric VAS are of comparable reliability. The Likert scale is recommended for use in questionnaires for children, although research into larger and more diverse samples is needed. [ABSTRACT FROM AUTHOR]

A 7-year-old patient with fulminant septic shock, due to Neisseria meningitidis of the uncommon serogroup Y developed extensive gangrene of the limbs. Multiple amputations were necessary and a pulmonary embolism occurred within 2 days post-operatively. Complement and haemostatic system studies, done after recovery, showed a complete absence of properdin antigen and a low protein C antigen and activity level in plasma. Defective haemolytic activity in gel by the alternative pathway of complement activation could be restored with purified properdin, indicating a properdin deficiency type I. Protein C antigen level as well as activity were in agreement with a protein C deficiency type 1. The polymerase chain reaction (PCR) product of exon five of the protein C gene showed a substitution of 72Gly by Arg. Both deficiencies were traced among relatives of the patient. Serum of the father of the patient's mother was also properdin-deficient. Microsatellite haplotyping of the X-chromosome of the patient and his relatives showed that a distinct haplotype cosegregated with the properdin deficiency (Lodscore 2.25; four informative meioses). The protein C type I deficiency was present in the patient's mother and her mother and cosegregated with the mutation found. So far as is known, this is the first patient described with combined inherited properdin deficiency and protein C deficiency. [ABSTRACT FROM AUTHOR]