Influence of schooling on the health-related quality of life of children with rare diseases

Abstract

Background: Although participation of children with rare diseases in school is considered beneficial, it poses new challenges for the educational system, but also for the affected children and their families. The aim of this study is to identify which aspects of the schooling experience may have an impact on the health-related quality of life of children with rare diseases. Method: A qualitative study was conducted using the social-critical paradigm as theoretical perspective. Participants (n = 28) included children with rare diseases (n = 8), parents (n = 12) and school staff (n = 8). Data was obtained through in-depth interviews and focus groups and analysed through discourse analysis as methodological orientation. Results: Participants' discourses placed value on the social benefits of inclusion of children with rare diseases in schooling. Discourses also highlighted how the low numbers of children with rare diseases and the delay, or lack, of a clear diagnosis are among the difficulties experienced in the pursuit of the adaptations that children and teachers need to promote a healthy and normalized school experience. The issues identified in their health-related quality of life were summarized in seven categories: Attendance, Knowledge, Participation, Acceptance, Discrimination, Safety, Health-Related Support. Conclusion: Children with rare diseases remain, in many cases, invisible at the educational level due to the low numbers of children affected, limiting the kind of resources available to the child and teaching staff. This situation requires inter-disciplinary and inter-sector measures between health services and educational environments to articulate a comprehensive approach focused on children's clinical needs.

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

“…In consequence of the physicians’ lack of knowledge and specific training, many RDs are un/misdiagnosed and RD patients struggle with an endless diagnostic and therapeutic odyssey [ 28 ]. This in turn impedes the inclusion of RD patients into society and creates many barriers that prevent the fulfilment of their basic needs, including education [ 29 , 30 ]. For example, some children suffering from an RD in Australia received a proper diagnosis only after 10 or even 18 years and reported visiting more than ten physicians [ 31 ].…”

Psychometric analysis of the Brazilian-version Kidscreen-27 questionnaire

“…Its evaluation in children and adolescents is considered an important health indicator, as it is during this period of life that cognitive, physical, psychosocial, emotional and behavioral changes occur and can affect health and well-being [ 2 ]. Studies show different associations of HRQoL with biological (sex, age, biological maturation) [ 2 , 3 ] and behavioral characteristics (physical activity, sedentary behavior, diet, sleep, smoking and alcohol consumption) [ 2 , 4 ] as well with diseases such as asthma, diabetes, obesity and rare diseases [ 5 ].…”

The Impact of the Coordination between Healthcare and Educational Personnel on the Health and Inclusion of Children and Adolescents with Rare Diseases

“…Professionals have thus had to modify their expectations towards children with a disease, redefining the purpose of school so that academic achievements are not perceived as less important than for the rest of the students, while also working together with parents to set realistic goals for their children [ 27 ]. The educational experience influences the quality of life of children and requires awareness and adequate training for teachers, as well as close collaboration with families and health services [ 28 , 29 , 30 ].…”