Abstract
Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, coded and analysed using thematic analysis. Identified themes were “difficulties in keeping up with peers” and “being and feeling different from peers”. Furthermore, an adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and its contextual factors. Adolescents perceived problems in keeping up with peers in school, sports, leisure and friendships/relationships, and they could not meet work requirements. Moreover, participants perceived to differ from peers due to their appearance and disability. Contextual factors: coping with Marfan syndrome, self-esteem/image, knowledge about Marfan syndrome, support from family/friends/teachers, ability to express needs and peer-group acceptation acted individually as barrier or facilitator for identified themes.Conclusion: Adolescents with Marfan syndrome perceived limitations and restrictions in (physical) functioning. They perceived problems in keeping up with peers and perceived to differ from peers due to their appearance and disability. This warrants awareness and tailored physical, psychosocial, educational and environmental support programmes to improve (physical) functioning and empowerment of adolescents with Marfan syndrome.What is known:• Marfan syndrome is a hereditary connective tissue disorder.• Marfan syndrome affects multiple systems.What is new:• Adolescents with Marfan syndrome perceive (1) problems in keeping up with peers in school, sports, leisure, friendships/relationships and work (2) to differ from peers due to their appearance and disability.• An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors.
Highlights
Marfan syndrome (MFS) is a rare hereditary connective tissue disorder caused by a mutation in the FBN1 gene
An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors
Our recent qualitative study in parents on the perceived impact of MFS on daily functioning of their children aged 4–12 years with MFS showed that their children with MFS could not keep up with peers and experienced participation restrictions and unsupportive attitudes towards their physical appearance related to MFS [37]
Summary
Marfan syndrome (MFS) is a rare hereditary connective tissue disorder caused by a mutation in the FBN1 gene. Essential for providing optimal adolescent patient support, studies on the overall impact of MFS on (physical) functioning (activities, participation), disability (limitations, restriction) and contextual factors during adolescence are sparse. Current studies reported significant burden on physical activities [7, 27, 28, 30], schooling and job opportunities [33], low work participation [34] and self-image [27] in adolescents and young adults with MFS. Our recent qualitative study in parents on the perceived impact of MFS on daily functioning of their children aged 4–12 years with MFS showed that their children with MFS could not keep up with peers and experienced participation restrictions and unsupportive attitudes towards their physical appearance related to MFS [37]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
