Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

OBJECTIVE: To investigate the determinants of quality of life (QoL) in children with inborn errors of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional model. STUDY DESIGN: In this multicenter cross-sectional study, data from children aged 8-17 years with IEMRDs (except phenylketonuria) and their parents were collected from January 2015 to December 2017. Measurements included a child's self-reported QoL, self-rated behavioral problems and anxiety, and parental anxiety. Based on hypotheses from a literature-built theoretical model linking demographic, clinical, family environment, and psychosocial characteristics to QoL either directly or indirectly, associations of these factors with a child's self-rated QoL were examined using a structural equation modeling approach. RESULTS: A total of 312 children (mean [SD] age, 12.2 [2.6] years; 51% boys [n = 160]) were included. Higher levels of trait anxiety and behavioral problems in children were the most important factors associated with poorer QoL (standardized path coefficients, -0.71 and -0.23, respectively). In addition, higher parent trait anxiety, younger age at diagnosis, and a disease requiring an emergency diet were associated with poorer QoL in these children. The final model fit the data closely according to conventional goodness-of-fit statistics and explained 86% of the QoL variance. CONCLUSIONS: Psychosocial factors appear to be major determinants of QoL impairment in children with IEMRDs. These factors should be addressed in clinical practice as part of the global treatment plan for a child with IEMRD. Future studies based on a longitudinal design should consider coping strategies when exploring potential predictive factors of QoL.

Quality of life and neuropsychological development at school age in Hirschsprung's disease.

PURPOSE: To determine the quality of life and neuropsychological development of school-aged children with Hirschsprung's disease. METHODS: In this observational monocentric study, a multidisciplinary team prospectively assessed quality of life, neuropsychometric development and bowel functional outcomes. This study was registered on ClinicalTrial.gov (NCT03406741). Kidscreen and VSP-A questionnaires assessed the quality of life and were compared to the reference population (Eurostat database). Intelligence, attention and executive functions, perceptual organization and memory were evaluated using the Wechsler Children's Intelligence Scale, the NEuroPSYchological assessment, and the Rey figure test. Bowel functional outcomes were obtained using the Krickenbeck score. RESULTS: Fifteen patients were included, with a mean age of 10.25 years. The children's Kidscreen-assessed quality of life index was higher than the reference population (p = 0.01). The Full-Scale Intelligent Quotient was dissociated in 64% of children. The Perceptional Reasoning Index and the Processing Speed Index were observed at lower levels. There were no disturbances in executive functions. A satisfactory bowel functional outcome was noted in 46.7% of children. CONCLUSION: Children with Hirschsprung's disease have been shown to have subtle decreased performances in some areas of intelligence. Performing a neuropsychological assessment upon entering elementary school could help to detect these specific learning disabilities. LEVELS OF EVIDENCE: Level II, prognosis study.

[Cleft lip and palate: Health-related quality of life (French VSP-A scale) for patients and their family. About 51 families]. / Fentes labio-palatines : qualité de vie (VSP-A) patients et parents. À propos de 51 familles.

PURPOSE, OBJECTIVE: The aim of our study was to investigate the quality of life of patients undergoing cleft lip or cleft lip and palate as well as the perception of quality of life of patients perceived by their parents slot. PATIENTS AND METHODS: Fifty-one adolescents and young adults (29 boys and 22 girls) who underwent cleft lip (FL 22) or lip and palate (CLP 29) and their parents have received psychological and surgical joint consultation. The minimum age for inclusion was 10 years (mean age 15.5 years). A quality of life questionnaire (VSP-A) "children" was given between 10 and 11 years and a questionnaire "adolescents" beyond. Parents have them answered a questionnaire of perceived quality of life of their children. The results were analyzed and compared to a control population (Statistics Student test). Perceived parents lived in relation to their children was obtained through the study of linear regression curves. RESULTS: The response rate to the questionnaires was 66.7% for parents, 85.7% for children and 63.6% for teenagers. The quality of life of the patients was assessed by the patients to 65.1/100 on average. The index of overall quality of life was superimposed on the control population (p=0.66). Perceived quality of life of patients by their parents was fairly close to the quality of life described by patients (66.5). On the areas of family, education, recreation, quality index was proportionately less than for other areas. For each of these areas, parents overestimated the quality of life of their child. Compared to the control group the fields of education, leisure, vitality quality index were significantly lower in the/FL population P.