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.

Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary systems and facial features. 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. Therefore, the full impact of MFS on daily functioning remains unclear. The aim of this qualitative study was to explore parents’ perspectives on the impact of MFS on 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. In this qualitative study 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. Thereafter themes were identified and interpreted. 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 other leisure activities. 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, a limited social life, and concerns about the child’s development. Family burden was caused by adjusted and complex family schedules, other family members with MFS, and reproductive planning decision-making, whereas family cohesiveness and caring were positively perceived factors. Parents perceived a large impact of MFS on 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 educational programs to empower and improve daily functioning of the children, parents and family.

Background: Little is known about the effects of upper-extremity surgery on the manual performance of children and adolescents with cerebral palsy (CP). This clinical cohort study describes our experience with patient selection based on multidisciplinary assessment and shared decision-making and the effects of upper-extremity surgery on manual performance and patient-relevant outcomes. Methods: All patients (up to 20 years of age) with CP referred to our multidisciplinary team for evaluation for upper-extremity surgery between July 2011 and May 2017 were included. Suitability for upper-extremity surgery was assessed with comprehensive, multidisciplinary screening, and the decision to proceed with surgery was made together with the patient. Individual patient-relevant goals were identified with the Canadian Occupational Performance Measure (COPM); perceived independence in performing bimanual activities at home was assessed with the ABILHAND-Kids tool, and perceived quality of use of the affected hand during daily activities was assessed with a visual analog scale (VAS). The quality of use of the affected hand during bimanual performance was measured with the Assisting Hand Assessment (AHA), and gross manual dexterity was evaluated with the Box and Block Test (BBT). All baseline assessments were repeated at an average of 9 months after the surgery. Results: Of 66 patients assessed by the multidisciplinary upper-extremity-surgery team, 44 were considered eligible for upper-extremity surgery. Of these patients, 39 (mean age and standard deviation [SD], 14.9 ± 2.10 years, 87% with unilateral CP, and 72% at Manual Ability Classification System [MACS] level II) underwent upper-extremity surgery and were evaluated in the pre-post study. All outcomes improved significantly after upper-extremity surgery, with average improvements of 3.1 ± 1.6 points in the COPM-Performance (COPM-P) score (p < 0.001), 3.3 ± 2.1 points in the COPM-Satisfaction (COPM-S) score (p < 0.001), 1.5 ± 1.2 logits in the ABILHAND score (p < 0.001), 2.4 ± 1.9 cm in the VAS score (p < 0.001), 6.7 ± 4.2 units in the AHA score (p < 0.001), and 2.2 ± 5.0 blocks/minute on the BBT (p = 0.021). The improvement in the COPM-P, COPM-S, ABILHAND, VAS, AHA, and BBT scores was clinically meaningful in 80%, 77%, 55%, 62%, 71%, and 31% of the patients, respectively. Conclusions: Careful assessment of eligibility for upper-extremity surgery, based on multidisciplinary screening and shared decision-making, resulted in a clinically relevant improvement in patient-specific functional and/or cosmetic goals and manual performance after upper-extremity surgery in most patients with CP. Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, r_s = 0.68), pain (p < 0.001, r_s = 0.64) and general health (p < 0.001, r_s = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.

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.

The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health‐Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child‐reported Child Health Questionnaires (CHQ‐PF50 and CHQ‐CF45, respectively) and the parent‐reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent‐reported HRQoL of the HCTD‐group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child‐reported HRQoL. The parent‐reported mental health of the HCTD‐group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS‐ and hEDS‐subgroups both reported decreased HRQoL, only the hEDS‐subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.