Marfan syndrome in childhood: parents' perspectives of the impact on the daily functioning of children, parents and family; a qualitative study

Warnink-Kavelaars Jessica
Author e-mail
Amsterdam UMC, University of Amsterdam, Rehabilitation, Amsterda

Introduction: This qualitative study explores parents' perspectives on the impact of Marfan syndrome (MFS) on the daily functioning of children with MFS aged 4-12 years, themselves and family regarding functional performance, activities, participation, personal and environmental factors, and disease burden.
Patients and methods: Parents participated in individual semi-structured interviews (n=10) and 3 focus groups (n=5, n=5 and n=6). Meetings were transcribed, and data were analyzed using thematic analysis. Meaningful concepts were coded, and concepts concerning children with MFS were linked to the International Classification of Functioning, Disability and Health for Children and Youth. Themes were identified.
Results: Parents reported their children could not keep up with peers because of fatigue, pain and physical impairments. Children experienced participation restrictions in school, sports, play and leisure. Parents reported their child as being different due to physical appearance, which provoked unsupportive attitudes. Parental burden was caused by high care needs, lack of support, limited social life, and concerns about the child's development. Family burden was caused by complex family schedules, other family members with MFS, and reproductive planning decision-making, whereas family cohesiveness and caring were positively perceived factors.
Conclusion: Parents perceived a large impact of MFS on the daily functioning of their children with MFS, themselves and their family. 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 education programs to empower and improve

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