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The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4-18 years, with Marfan syndrome (MFS, n = 74), Loeys-Dietz syndrome (n = 8), molecular confirmed Ehlers-Danlos syndromes (n = 15), and hypermobile Ehlers-Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Aim: To compare Health-Related Quality of Life (HRQOL) of paediatric patients with newly collected HRQOL data of the general Dutch population, explore responses to individual items and investigate variables associated with HRQOL., Methods: Children (8-12y) and adolescents (13-17y) from the general population (N = 966) and from a paediatric population (N = 1209) completed the Pediatric Quality of Life Inventory (PedsQL TM ) online via the KLIK Patient-Reported Outcome Measures portal. PedsQL TM scale scores were compared between groups with independent t tests, by age group and gender. Responses to PedsQL TM items were explored using descriptive analyses. Linear regression analyses were performed to determine which variables were associated with HRQOL., Results: Paediatric patients reported worse HRQOL than the general population on all PedsQL TM scales (p ≤ .001, d = 0.20-1.03), except social functioning, and a high proportion reported problems on PedsQL TM items, for example, 'I have trouble sleeping'. Younger age, female gender and school absence were negatively associated with HRQOL (β = -0.37-0.10, p ≤ .008)., Conclusion: Paediatric patients reported lower HRQOL than the general population, and school absence, female gender and younger age were associated with lower HRQOL. The results underline the importance to structurally monitor paediatric patients' HRQOL in clinical practice to detect problems and offer the right help on time., (©2021 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, completed the validated screening-questionnaire Distress thermometer for parents of a chronically ill child, including questions on overall distress (score 0-10; ≥4 denoting "clinical distress") and everyday problems (score 0-36). Data were compared to 1,134 control-group-parents of healthy children. Mothers reported significantly less overall distress (2, 1-4 vs. 3, 1-6; p = .049; r = -.07) and total everyday problems (3, 0-6 vs. 4, 1-8; p = .03; r = -.08) compared to control-group-mothers. Mothers without MFS reported significantly less overall distress compared to mothers with MFS, both of a child with MFS (1, 0-4 vs. 3.5, 2-5; p = .039; r = -.17). No significant differences were found between the father-groups, nor between the group of healthy parents of an affected child living together with an affected partner compared to control-group-parents. No differences in percentages of clinical distress were reported between mothers and control-group-mothers (33 vs. 42%); fathers and control-group-fathers (28 vs. 32%); nor between the other groups. Distress was not associated with the children's MFS characteristics. Concluding, parents of a child with MFS did not show more clinical distress compared to parents of healthy children. However, clinical distress was reported in approximately one-third and may increase in case of acute medical complications. We advise monitoring distress in parents of a child with MFS to provide targeted support., (© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

This patient-reported outcome (PRO) study reports on 102 children with Robin sequence (RS) and their parents. There has been differentiated between those with isolated RS and those with RS as part of a syndrome, and take various treatments into account. All RS families from an earlier described cohort were invited to participate. Parents and RS children completed online questionnaires regarding health-related quality of life (HRQoL), satisfaction with appearance, parental distress, and RS specific topics. Results were compared with the Dutch norm population if available. There was no major difference in HRQoL in RS children and the Dutch norm population, nor between children with isolated RS and those with RS as part of a syndrome. The latter is likely due to the large percentage of children with Stickler syndrome, and small number of RS children with intellectual disability. Parental distress was higher in RS children with syndromes compared to parents of isolated RS children. When comparing various treatments, the subgroup treated by mandibular distraction showed a tendency of lower HRQoL scores, less satisfaction with appearance, and more parental distress. Also in the NPA group parents showed a tendency of more parental distress. Subgroups for each treatment were very small, however, and firm conclusions cannot be drawn. In this study, HRQoL in RS children is demonstrated comparable to the norm population, despite variations in treatment, possibly with less favorable outcome for children who received mandibular distraction. Markedly larger studies are needed to allow more reliable comparison of PROs in various treatments, and to incorporate PROs in management guidelines to obtain optimal patient care. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

Aim: Kawasaki disease (KD) is an acute paediatric vasculitis. The psychosocial consequences of this sudden illness for parents are unknown. This study aimed to evaluate health related quality of life (HRQOL) and parental perceptions of child vulnerability (PPCV) in parents of children with KD, and to identify variables associated with PPCV., Methods: This cross-sectional study included 288 parents (83% mothers) of KD patients (mean age 8.7 years). HRQOL was assessed using the TNO-AZL Questionnaire for Adult's HRQOL (TAAQOL) and PPCV using the Child Vulnerability Scale (CVS). Scores of KD parents were compared with reference groups of Dutch parents. Logistic regression analyses were performed to examine associated variables., Results: The HRQOL of KD parents was comparable to the HRQOL of parents of healthy children. However, KD parents showed significantly higher PPCV, regarding both the median CVS total score and the percentage in the clinical range. No differences were found in CVS outcomes between KD parents and parents of a chronically ill child. None of the studied parental, child and disease characteristics were significantly associated with PPCV., Conclusion: Parents perceived their KD child more vulnerable to illness than healthy children, while in reality the majority had fully recovered from KD., (©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

After a long and contentious political debate, the instant lottery was introduced in the Netherlands in 1994. One of the conditions for allowing the introduction was that an evaluation study should be conducted with regard to possible negative side effects of the instant lottery in terms of excessive playing or addiction. This article reports on the main results of this evaluation study. In a random sample of 4497 instant lottery players, at-risk players were differentiated from recreative players on the basis of level of involvement in the instant lottery, impaired control and the experienced negative consequences of playing. Of the sample, 4.1% could be classified as an at-risk player. Actual problems resulting from playing in the instant lottery were experienced by 0.7% of the players. At-risk players and recreative players did not only differ substantially in their playing behaviour, but also with regard to their socio-economic background, playing motivation, participation in other games of chance, and involvement in alcohol use and use of marijuana. To summarize, at-risk players were more likely to come from a poor socio-economic background, to play the instant lottery with a negative playing motivation, to be heavily involved in other forms of gambling, to have used marijuana and to drink alcohol excessively.