H. S. A. Heymans

Hidden Consequences of Success in Pediatrics: Parental Health-Related Quality of Life—Results From the Care Project

CONTEXT. The number of parents who care for a chronically ill child is increasing. Because of advances in medical care, parental caring tasks are changing. A detailed description of parental health-related quality of life will add to the understanding of the impact of caring for a chronically ill child. This will contribute to pediatric family care. OBJECTIVE. Our goal was to determine the health-related quality of life of parents of chronically ill children compared with parents of healthy schoolchildren. DESIGN, SETTING, AND PARTICIPANTS. A survey of 533 parents of children with chronic conditions (10 diagnosis groups, children aged 1–19 years, diagnosed >1 year ago, living at home) and 443 parents of schoolchildren was conducted between January 2006 and September 2007. Parents were approached through Emma Childrens Hospital (which has a tertiary referral and a regional function) and through parent associations. The comparison group included parents of healthy schoolchildren. Health-related quality of life was assessed with the TNO-AZL Questionnaire for Adults Health Related Quality of Life. MAIN OUTCOME MEASURE. Health-related quality of life measures gross and fine motor function, cognitive functioning, sleep, pain, social functioning, daily activities, sexuality, vitality, positive and depressive emotions, and aggressiveness. The health-related quality of life of the study group was compared with that of the comparison group, and effect sizes were estimated. The percentages of parents at risk for a low health-related quality of life were compared with the 25th percentile scores of the comparison group. RESULTS. Parents of chronically ill children had a significantly lower health-related quality of life. Subgroup analysis showed lower health-related quality of life on sleep, social functioning, daily activities, vitality, positive emotions, and depressive emotions in disease-specific groups. On average, 45% of the parents were at risk for health-related quality-of-life impairment. CONCLUSIONS. Parents of chronically ill children report a seriously lower health-related quality of life, which should receive attention and supportive care if necessary. A family-centered approach in pediatrics is recommended.

Defining chronic diseases and health conditions in childhood (0–18 years of age): national consensus in the Netherlands

A national consensus procedure was organised to define chronic diseases and health conditions in childhood. Based on (1) a systematic literature search on the definitions of chronic conditions in childhood and (2) a theoretical framework of determinants and indicators of health conditions, a definition of chronic conditions in childhood was proposed. This proposal was subsequently modified according to the comments received from 21 Dutch experts (clinicians, researchers and representatives of patient organisations) in two written consultation rounds and one national meeting, until consensus was reached. Consensus was attained on a definition consisting of four criteria: a disease or condition is considered to be a chronic condition in childhood if: (1) it occurs in children aged 0 up to 18xa0years; (2) the diagnosis is based on medical scientific knowledge and can be established using reproducible and valid methods or instruments according to professional standards; (3) it is not (yet) curable or, for mental health conditions, if it is highly resistant to treatment and (4) it has been present for longer than three months or it will, very probably, last longer than three months, or it has occurred three times or more during the past year and will probably reoccur. This definition was operationalised using the ICD-10 classification of the World Health Organisation (WHO; International Statistical Classification of Diseases and Related Health Problems [ICD], 10th revision, Geneva, Switzerland, 1992). By this systematic and thorough procedure, national consensus on a comprehensive definition of chronic conditions in children which can be used for epidemiological research was reached.

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

Three infants with clinical and biochemical features of Zellwegers cerebrohepatorenal syndrome are presented, and the ultrastructural features of successive biopsy and autopsy liver specimens are described. No hepatocellular peroxisomes were found in these patients on routine electron microscopy or electron microscopic histochemistry. In a control group of liver biopsies from 9 patients with other pediatric liver diseases, peroxisomes were readily identifiable in each hepatocyte. Apart from the absence of peroxisomes, the hepatocytes had a remarkably normal aspect, even in the final stages of the disease. Mitochondrial abnormalities, which have been the subject of some controversy in this syndrome, were a highly variable and inconstant finding in our cases. We draw attention to another ultrastructural feature of the syndrome, namely the occurrence of large angulate lysosomes, containing conspicuous double lamellae, inside macrophages, which were especially abundant in later stages of the disease. These angulate lysosomes may be of additional value in the ultrastructural diagnosis of Zellwegers syndrome, especially when only poorly preserved liver tissue (e.g., paraffin-embedded or postmortem material) is available, and the absence of peroxisomes is difficult to assess. In these instances, the angulate lysosomes can still be identified with ease.

A predictive model of Health Related Quality of life of parents of chronically ill children: the importance of care-dependency of their child and their support system

BackgroundParents of chronically ill children are at risk for a lower Health Related Quality of Life (HRQoL). Insight in the dynamics of factors influencing parental HRQoL is necessary for development of interventions. Aim of the present study was to explore the influence of demographic and disease related factors on parental HRQoL, mediated by employment, income, leisure time, holiday and emotional support in a comprehensive model.MethodsIn a cross-sectional design, 543 parents of chronically ill children completed questionnaires. A conceptual model of parental HRQoL was developed. Structural equation modeling was performed to explore the relations in the conceptual model, and to test if the model fitted the data.ResultsThe model fitted the data closely (CHISQ(14) = 11.37, p = 0.66; RMSEA = 0.0, 90%CI [0.00;0.034]. The effect of socio-demographic and medical data on HRQoL was mediated by days on holiday (MCS: β = .21) and emotional support (PCS: β = .14; MCS: β = .28). Also, female gender (β = -.10), age (β = .10), being chronically ill as a parent (β = -.34), and care dependency of the child (β = -.14; β = -.15) were directly related to parental HRQoL.ConclusionThe final model was slightly different from the conceptual model. Main factors explaining parental HRQoL seemed to be emotional support, care dependency, days on holiday and being chronically ill as a parent. Holiday and emotional support mediated the effect of demographic and disease-related factors on HRQoL. Hours of employment, leisure time and household income did not mediate between background characteristics and HRQoL, contrasting the hypotheses.

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase

sites. Additional considerations when employing the method presented include estimation of total blood volume of the patient. In the normal newborn infant this is considered to be in the range of 85 to 100 ml/kg, depending upon gestational age. Among older infants and children, normal blood volume was considered to be 75 ml/kg. Patients with polcythemia secondary to cyanotic congenital heart disease may have blood volumes in excess of 100 ml/kg. The hematocrit value of donor packed red blood cells varied substantially in our series; it is recommended, therefore, that this be measured prior to final calculation of the required volume of donor blood. Review of patient data presented in two reports =. ~ of severely anemic children suggests good agreement with data predicted by our formula. Further experience by others is encouraged to validate the results reported here.

Are parents able to rate the symptoms and quality of life of their offspring with IBD

The aim of this study was to investigate the degree of agreement between parents and their offspring with inflammatory bowel disease for the presence of symptoms and the assessment of health-related quality of life (HRQOL). Factors influencing parent–child agreement were studied. Eighty-three Children and 81 parents separately filled out a five-item symptom card and a validated generic HRQOL instrument, which assesses seven domains of HRQOL, using the child and parent form. The parent also filled out the GHQ-30, an instrument assessing nonpsychotic psychiatric disorder in the parent, and an item on marital status. Intraclass correlation coefficients and paired student t-test were used to assess the level of agreement between raters. On one domain, parents reported their children as having a worse QOL than did the children themselves (social functioning). The parents were adequate raters of objective components of their childs HRQOL (overall correlation coefficient: 0.88). However, on more subjective components, the coefficient dropped to 0.62. In 82% of the cases did parents correctly classify their child into the disease activity category the child classified him- or herself. In conclusion, agreement between parents and offspring is good for the childs symptoms, but for HRQOL assessment only when it concerns objective states.

Predicting health‐related quality of life of parents of children with inherited metabolic diseases

Aim:u2002 The aim of this study was to examine medical, socio‐demographic and psychosocial determinants of health‐related quality of life (HRQoL) of parents of children with metabolic diseases.

Growing into disability benefits? Psychosocial course of life of young adults with a chronic somatic disease or disability.

Aim:u2002 A growing number of young adults with somatic diseases/disabilities since childhood apply for disability benefits. The achievement of psychosocial milestones while growing up (course of life) is assumed to be related to job participation. This study assessed the course of life of young adult beneficiaries with somatic limitations compared with peers from the general Dutch population.

Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients

Peroxisomal disorders are genetic diseases in which an impairment in one or more peroxisomal function(s) causes clinical and multiple biochemical abnormalities. Early recognition of the major peroxisomal disorders in which functional peroxisomes are virtually absent, leading to a generalised impairment of peroxisomal functions, is of utmost importance, as this will enable the prenatal diagnosis of these severe diseases in future pregnancies. Unfortunately, clinical recognition of these disorders can be difficult because of the aspecific and varying phenotypic presentation. We analysed the clinical characteristics in 40 patients suspected of having a peroxisomal disorder to identify specific clinical criteria for diagnosis. From this study we conclude that the combined presence of at least three major clinical characteristics (present in >75% of the affected patients, including psychomotor retardation, hypotonia, impaired hearing, low/broad nasal bridge, abnormal ERG, hepatomegaly) and one or more minor characteristics (present in 50%–75% of the patients, like large fontanelles, shallow orbital ridges, epicanthus, anteverted nostrils, retinitis pigmentosa) warrants biochemical investigation of peroxisomal functions. Further prospective investigations will have to be done to evaluate these criteria.

Health-related quality of life, anxiety and depression in young adults with disability benefits due to childhood-onset somatic conditions

BackgroundAs the treatment of chronic or life-threatening diseased children has dramatically over recent decades, more and more paediatric patients reach adulthood. Some of these patients are successfully integrating into adult life; leaving home, developing psychosocially, and defining a role for themselves in the community through employment. However, despite careful guidance and support, many others do not succeed. A growing number of adolescents and young adults who have had a somatic disease or disability since childhood apply for disability benefits. The purpose of this study was to assess the health-related quality of life (HRQoL), anxiety and depression of young adults receiving disability benefits because of somatic conditions compared to reference groups from the general Dutch population and to explore factors related to their HRQoL, anxiety and depression.MethodsYoung adults (Nu2009=u2009377, 22–31 yrs, 64.3% female) claiming disability benefits completed the RAND-36 and an online version of the HADS. Differences between respondents and both reference groups were tested using analysis of variance and logistic regression analysis by group and age (and gender). Regression analyses were conducted to predict HRQoL (Mental and Physical Component Scale; RAND-36) and Anxiety and Depression (HADS) by demographic and disease-related variables.ResultsThe respondents reported worse HRQoL than the reference group (−1.76 Physical Component Scale; -0.48 Mental Component Scale), and a higher percentage were at risk for an anxiety (29.7%) and depressive (17.0%) disorder. Better HRQoL and lower levels of anxiety and depression were associated with a positive course of the illness and the use of medical devices.ConclusionsThis study has found worse HRQoL and feelings of anxiety and depression experienced by young adults claiming disability benefits. Healthcare providers, including paediatric healthcare providers, should pay systematic attention to the emotional functioning of patients growing up with a somatic condition in order to optimise their emotional well-being and adaptation to society during their transition to adulthood. Future research should focus on emotional functioning in more detail in order to identify those patients that are most likely to develop difficulties in emotional functioning and who would benefit from specific psychosocial support aimed at workforce participation.