Background
Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in
FBN1. The diagnosis is based on the revised Ghent criteria [
1]. The main features involve the cardiovascular (aortic aneurysm, mitral valve prolapse), musculoskeletal (increased arm span/height and reduced upper/lower segment ratios, arachnodactyly, hypermobility, scoliosis, hindfoot valgus, pes planus, pectus excavatum and carinatum), ophthalmic (ectopia lentis, severe myopia) and pulmonary (pneumothorax) systems, skin striae and facial features (dolichocephaly, enophthalmos, downward slanting of the eyes, malar hypoplasia and retrognathia) [
2‐
7]. Although the clinical manifestations of MFS in children are thoroughly addressed in several studies, literature on the impact of MFS on daily functioning is restricted to pediatric advice on sports and leisure participation, based on expert opinions and cardiovascular research [
3,
5] and a study on pediatric quality of life [
8]. Therefore, the full impact of MFS on daily functioning of children, parents and family remains unclear.
This lack of knowledge hampers health care professionals and multi-disciplinary teams who are involved in the care of children with MFS and their families from providing evidence-based advice to parents and children asking about the everyday consequences of MFS and available interventions to improve daily functioning. However, some clues can be drawn from studies on adolescents and adults with MFS, where physical impairments such as pain, fatigue, aortic dissection and skeletal malformations were reported as negative factors for physical activities, psycho-social development, education, work and family life [
9‐
15], as well as from studies on children with other chronic and connective tissue diseases, which reported difficulties regarding daily functioning and quality of life [
16‐
20].
The three objectives of this present qualitative study are to explore parents’ perspectives on the impact of MFS on daily functioning of (1) their children with MFS aged 4–12 years, (2) themselves, and (3) their family. These new insights may provide greater awareness of the broad impact of MFS on daily functioning among all professionals involved in the care of children with MFS and their families, and help health care professionals better address patients’ support needs.
Discussion
This study is the first on parents’ perspectives of the large impact of MFS on daily functioning of their child aged 4–12 years with MFS, themselves and their family.
“Cannot keep up with peers” was identified as an important theme in our study. Problems reported in previous studies of adolescents and adults with MFS regarding daily functioning were comparable to those in our parental reports. Adolescents and adults with MFS could not keep up with work, school and sports. Their participation restrictions were caused by pain, fatigue and physical limitations [
3,
5,
9‐
15,
30]. These limitations had a negative impact on their physical and psycho-social development, as well as on their well-being in childhood [
3,
5] and adulthood [
9‐
13]. There are also comparable reports on children with various chronic and connective tissue diseases regarding restrictions in daily functioning, reduced quality of life and deterioration of physical performance, as decreased muscle strength, generalized joint hypermobility, increased pain levels, and decreased proprioception and stamina were all associated with decreased physical functioning and participation [
16‐
20,
31].
“Being different” as a child with MFS and standing out from peers due to physical appearance related to MFS was also an important identified theme. In adults with MFS, unsupportive attitudes and insensitive teasing by peers due to their physical appearance were described and had consequences for their future social behavior in that they became more introverted and developed a lower self-esteem and self-image [
32]. Likewise, a meta-analysis on children with various chronic diseases reported a less positive body image than their healthy peers [
33], which might be a risk factor for lower self-esteem [
34]. Another meta-analysis indicated that children and adolescents with visible signs of a disease and appearance-related features of the disease were more likely to be victims of bullying than their healthy peers [
35]. Despite these factors, one study showed the quality of life in children and adolescents with MFS was not reduced; however, those children with more distinct physical MFS features (according to the systemic Ghent score [
1]) had reduced emotional well-being subscales compared to children with a less distinct physical appearance [
8]. A study on adults with MFS also reported a normal quality of life, although patients indicated that their lives would be significantly better without MFS, particularly in the areas of physical activity and self-image [
12]. These findings indicate that ‘being different’ due to physical MFS features may affect psycho-social development, self-esteem and behavior and requires the attention of health care professionals involved in the care of children with MFS.
Parental burden was addressed by the parents in our study. The same holds for parents of children with chronic, congenital heart, and other connective tissue diseases who showed greater parental burden than parents and families of healthy children [
36‐
41]. The sources were comparable: parenting stress and practical problems in daily life, high care child dependency, being chronically ill as a parent, having a limited support system, having a limited social life and having a minimum number of days on holiday. In our study, the parents reported an additional specific source of parental burden: concerns and fear of high-risk aortic surgery and early death, especially when family members had already undergone this type of surgery. The parental assessment of and attitudes towards the children’s functioning may be influenced by the parents’ fear of an adverse outcome will occur and stress regarding the diagnosis MFS. These concerns were also addressed by the parents of children with a congenital heart disease. Parents generally showed a higher incidence and severity of anger, anxiety, distress, depression, hopelessness and/or somatization symptoms than parents of healthy children [
37]. Futhermore it should be noted that some of the parents are diagnosed with MFS themselves. It may be possible that these parents may extent problems they experience and/or have experienced in their own childhood to their child with MFS. This may cause overprotection and restriction of the child’s activities and participation. Therefore it is highly important to inform parents and children about MFS and discuss parental fears and attitudes towards MFS.
Parental burden also affects the family functioning. Families who had fewer psychosocial resources and lower levels of social support were at higher risk of psychological distress and lower family well-being over time [
37,
38]. Furthermore, a meta-analysis showed that many dimensions of child well-being, such as problem behaviors, poor social competence and reduced pediatric quality of life, affected family functioning and burden as well [
42]. Positive factors such as family cohesiveness and caring for each other reduced parental and family burden, as reported both by parents of children with a congenital heart disease [
37,
38] and by our parents.
The parents indicated that family members had concerns about reproductive planning and decision making. These concerns have also been reported in parents with other hereditary connective tissue disorders, who indicated that the hereditary connective tissue disease significantly influenced reproductive decision-making because of the deterioration of personal health, increased consciousness of reproductive issues and chances in family life after having a child with MFS [
43,
44].
Study strengths, limitations and further research
The biggest strength of our study is that it is the first to describe the impact of MFS on daily functioning of children aged 4–12 years, their parents and family. The study was based on qualitative research in which trustworthiness and credibility as well as content saturation and verification were enhanced throughout the entire study period [
22].
Our study has some intrinsic limitations. The focus group participants enrolled themselves without purposive selection for diversity of gender and parental diagnoses of MFS (as we did purposive selection for the interviews) [
21]. To provide confidence that the identified themes captured all parental perspectives, member and expert checks took place thereafter.
Another limitation is that we used subjective parental observations of Dutch parents with a child with MFS. Questions about the generalizability of our findings to the perspectives of parents from other countries remain present although expert checks [
22] with the members of the Marfan Europe Network endorsed all themes. Despite these limitations, we are confident that the qualitative method used and number of interviews and focus group participants were sufficient to identify themes concerning this unexplored research topic.
Our results indicate a need for professional awareness regarding the broad impact of MFS on daily functioning of children with MFS, parents and families. We are convinced that it is crucial for the health care professionals and multi-disciplinary teams involved in the care of children with MFS and their families to be aware of these parental perspectives so they can better understand and address the challenges and support needs of the entire family. Health care professionals should support and empower children to cope with and manage the impact of MFS on daily functioning and to optimize participation in school, sports, and other leisure activities. In this way, children with MFS will be better able to keep up with peers. Professionals should also take into account the impact of a child with MFS on parental and family life and discuss the possibilities of parental counseling and/or psychological interventions for all family members.
Our study provides direction for future quantitative studies on the impact of MFS on daily functioning of children with MFS, parents and families. The identified themes concerning the impact of MFS on daily functioning of children with MFS could form a framework to map the functioning of children with MFS in more detail and study the quantitative impact of these themes on a child’s daily functioning. A core set of objective physical pediatric measurements can be used to observe the clinical and functional outcomes in comparison with subjective reports of parents regarding daily functioning and burden of disease of their children. Additionally, surveys about pain, fatigue, functional performance, daily activities, participation, personal factors (behavior, self-esteem, and self-competence), environmental factors, burden of disease and quality of life in children with MFS are needed. Furthermore, surveys on parental burden and family functioning that investigate and quantify the impact of a child with MFS on parents and family are indicated. Finally, the parents reported the need for information about the consequences of MFS and the need for interventions to improve daily function of their children, themselves and their family. Hence, individual rehabilitation and educational programs may be tailored to empower and improve daily functioning of children and parents.
Conclusion
Parents perceived a large impact of MFS on daily functioning of their children with MFS, themselves and their family. They reported that their children with MFS could not keep up with peers and experienced participation restrictions. Additionally, unsupportive attitudes towards their physical appearance related to MFS and inability to fully participate were addressed. Parental burden was caused by high child care needs, lack of professional health care support, a limited social life and concerns about development. Family burden was caused by adjusted and complex family schedules, other family members with MFS, and reproductive planning decision making. The parents perceived family cohesiveness and caring as positive factors.
More awareness among all professionals involved in the care of children with MFS and their families is needed so that professionals can address their support needs and provide tailored interventions, rehabilitation and/or educational programs to empower and improve daily functioning of the children, parents and family.
Acknowledgements
We thank the parents who participated in this study. We gratefully acknowledge the board of the Dutch MFS patient association for assistance with participant focus group recruitment and transcription of the interviews; J. van den Broek d’Obrenan, MD, rehabilitation physician, for assistance during focus group discussions; S. de Moree, psychologist, for her advice on the interview and focus group preset list of open questions; and M.W. Alsem, MD, PhD, rehabilitation physician, for advice on the analyses.
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