Abstract
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.
Highlights
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by a pathogenic variant in FBN1 (Loeys et al, 2010) and occurs de novo in a quarter of patients
We found that parents of a child with MFS reported parental burden caused by high parental caring requirements for their child's medical and psychosocial needs, lack of professional health care support, a limited social life, parental concerns about their child's physical, psychosocial development and fear of high-risk aortic surgery or early death (Warnink-Kavelaars et al, 2019)
Parents of a child with cancer (Schepers et al, 2018), home parenteral nutrition, mucopolysaccharidosis type III (Conijn, Nijmeijer, van Oers, Wijburg, & Haverman, 2019) inflammatory bowel disease (Diederen, Haverman, Grootenhuis, Benninga, & Kindermann, 2018), Down syndrome (Marchal et al, 2017) and a chronic disease of any type, screened by the Distress thermometer for parents of a chronically ill child (DT-P) (Haverman, van Oers, Limperg, Hijmans, et al, 2014; Haverman, van Rossum, van Veenendaal, van den Berg, et al, 2013) reported significantly higher distress and/or more often everyday problems compared to control-group parents
Summary
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by a pathogenic variant in FBN1 (Loeys et al, 2010) and occurs de novo in a quarter of patients. Parents of a child with cancer (Schepers et al, 2018), home parenteral nutrition (van Oers et al, 2019), mucopolysaccharidosis type III (Conijn, Nijmeijer, van Oers, Wijburg, & Haverman, 2019) inflammatory bowel disease (Diederen, Haverman, Grootenhuis, Benninga, & Kindermann, 2018), Down syndrome (Marchal et al, 2017) and a chronic disease of any type (van Oers, Schepers, Grootenhuis, & Haverman, 2017), screened by the Distress thermometer for parents of a chronically ill child (DT-P) (Haverman, van Oers, Limperg, Hijmans, et al, 2014; Haverman, van Rossum, van Veenendaal, van den Berg, et al, 2013) reported significantly higher distress and/or more often everyday problems compared to control-group parents. Studies reporting on the health-related effects of MFS in adults on family life, physical activities, psychosocial development, education, work, and reproductive planning provide clues for understanding distress in parents with MFS (Nielsen, Ratiu, Esfandiarei, Chen, & Selamet Tierney, 2019; Peters, Horne, Kong, Francomano, & Biesecker, 2001; Peters, Kong, Hanslo, & Biesecker, 2002; Peters, Kong, Horne, Francomano, & Biesecker, 2001; Speed et al, 2017; Velvin et al, 2015a; Velvin et al, 2016b; Velvin, Bathen, Rand-Hendriksen, & Geirdal, 2015b, 2016a)
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