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  • 1
    Online Resource
    Online Resource
    Parenting a child with Marfan syndrome: Distress and everyday problems
    Wiley ; 2021
    In:  American Journal of Medical Genetics Part A Vol. 185, No. 1 ( 2021-01), p. 50-59
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 185, No. 1 ( 2021-01), p. 50-59
    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.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v185.1
    DOI: 10.1002/ajmg.a.61906
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 2
    Online Resource
    Online Resource
    Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health
    Wiley ; 2022
    In:  American Journal of Medical Genetics Part A Vol. 188, No. 7 ( 2022-07), p. 2096-2109
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 7 ( 2022-07), p. 2096-2109
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v188.7
    DOI: 10.1002/ajmg.a.62750
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain
    Springer Science and Business Media LLC ; 2024
    In:  European Journal of Pediatrics Vol. 183, No. 5 ( 2024-03-11), p. 2421-2429
    Details
    In: European Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 183, No. 5 ( 2024-03-11), p. 2421-2429
    Abstract: Children with Marfan (MFS) and Loeys-Dietz syndrome (LDS) report limitations in physical activities, sports, school, leisure, and work participation in daily life. This observational, cross-sectional, multicenter study explores associations between physical fitness and cardiovascular parameters, systemic manifestations, fatigue, and pain in children with MFS and LDS. Forty-two participants, aged 6–18 years (mean (SD) 11.5(3.7)), diagnosed with MFS ( n = 36) or LDS ( n = 6), were enrolled. Physical fitness was evaluated using the Fitkids Treadmill Test’s time to exhaustion (TTE) outcome measure. Cardiovascular parameters (e.g., echocardiographic parameters, aortic surgery, cardiovascular medication) and systemic manifestations (systemic score of the revised Ghent criteria) were collected. Pain was obtained by visual analog scale. Fatigue was evaluated by PROMIS® Fatigue-10a-Pediatric-v2.0-short-form and PROMIS® Fatigue-10a-Parent-Proxy-v2.0-short-form. Multivariate linear regression analyses explored associations between physical fitness (dependent variable) and independent variables that emerged from the univariate linear regression analyses (criterion p 〈 .05). The total group (MFS and LDS) and the MFS subgroup scored below norms on physical fitness TTE Z -score (mean (SD) −3.1 (2.9); −3.0 (3.0), respectively). Univariate analyses showed associations between TTE Z -score aortic surgery, fatigue, and pain (criterion p 〈 .05). Multivariate analyses showed an association between physical fitness and pediatric self-reported fatigue that explained 48%; 49%, respectively, of TTE Z -score variance ( F (1,18) = 18.6, p ≤ .001,  r 2 = .48;  F (1,15) = 16,3, p = .01,  r 2 = .49, respectively).     Conclusions : Physical fitness is low in children with MFS or LDS and associated with self-reported fatigue. Our findings emphasize the potential of standardized and tailored exercise programs to improve physical fitness and reduce fatigue, ultimately enhancing the physical activity and sports, school, leisure, and work participation of children with MFS and LDS. What is Known: • Marfan and Loeys-Dietz syndrome are heritable connective tissue disorders and share cardiovascular and systemic manifestations. • Children with Marfan and Loeys-Dietz syndrome report increased levels of disability, fatigue and pain, as well as reduced levels of physical activity, overall health and health-related quality of life. What is New: • Physical fitness is low in children with Marfan and Loeys-Dietz syndrome and associated with self-reported fatigue. • Our findings emphasize the potential of standardized and tailored exercise programs to improve physical fitness and reduce fatigue, ultimately enhancing the physical activity and sports, school, leisure, and work participation of children with Marfan and Loeys-Dietz syndrome.
    Type of Medium: Online Resource
    ISSN: 1432-1076
    URL: Article
    DOI: 10.1007/s00431-024-05456-z
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2024
    detail.hit.zdb_id: 2647723-3
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