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  • 1
    Online Resource
    Online Resource
    Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
    Wiley ; 2023
    In:  American Journal of Medical Genetics Part A Vol. 191, No. 2 ( 2023-02), p. 479-489
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 191, No. 2 ( 2023-02), p. 479-489
    Abstract: To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN] ) on growth, and compare MFS‐related height increase across populations. Height and weight data of individuals with MFS aged 0–21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype–phenotype relationships, FBN1 variant type was included as an independent variable in height‐for‐age and BMI‐for‐age models. MFS‐related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height‐for‐age, BMI‐for‐age, and weight‐for‐height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. FBN1‐ HI variants were associated with taller height in both sexes, and decreased BMI in females ( p ‐values 〈 0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI/DN) influence tall and slender stature in MFS.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v191.2
    DOI: 10.1002/ajmg.a.63047
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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    SSG: 12
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  • 2
    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
    detail.hit.zdb_id: 2108614-X
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs
    Springer Science and Business Media LLC ; 2019
    In:  European Journal of Pediatrics Vol. 178, No. 12 ( 2019-12), p. 1883-1892
    Details
    In: European Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 178, No. 12 ( 2019-12), p. 1883-1892
    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.
    Type of Medium: Online Resource
    ISSN: 0340-6199 , 1432-1076
    URL: Article
    DOI: 10.1007/s00431-019-03469-7
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
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    detail.hit.zdb_id: 194196-3
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  • 4
    Online Resource
    Online Resource
    Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study
    Springer Science and Business Media LLC ; 2019
    In:  BMC Pediatrics Vol. 19, No. 1 ( 2019-12)
    Details
    In: BMC Pediatrics, Springer Science and Business Media LLC, Vol. 19, No. 1 ( 2019-12)
    Type of Medium: Online Resource
    ISSN: 1471-2431
    URL: Article
    DOI: 10.1186/s12887-019-1612-6
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
    detail.hit.zdb_id: 2041342-7
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  • 5
    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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  • 6
    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
    detail.hit.zdb_id: 2108614-X
    SSG: 12
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  • 7
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    Online Resource
    Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders
    Wiley ; 2023
    In:  American Journal of Medical Genetics Part A Vol. 191, No. 7 ( 2023-07), p. 1792-1803
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 191, No. 7 ( 2023-07), p. 1792-1803
    Abstract: The aim of the present study was to investigate the nature and prevalence of nonspecific somatic symptoms, pain and catastrophizing in children with Heritable Connective Tissue Disorders (HCTD), and to determine their association with disability. This observational, multicenter study included 127 children, aged 4–18 years, with Marfan syndrome (MFS) (59%), Loeys‐Dietz syndrome (LDS) (8%), Ehlers‐Danlos syndromes (EDS) (12%) and hypermobile Ehlers‐Danlos syndrome (hEDS) (23%). The assessments included the Children's Somatization Inventory or parent proxy (CSI, PCSI), pain visual‐analogue scale (VAS), SUPERKIDZ body diagram, Pain Catastrophizing Scale Child or parent proxy (PCS‐C, PCS‐P) and Childhood Health Assessment Questionnaire (CHAQ‐30). Data from children aged ≥8 years were compared to normative data. In children ≥ 8 years ( n = 90), pain was present in 59%, with a median of 4 (IQR = 3–9) pain areas. Compared to normative data, the HCTD group reported significantly higher on the CSI ( p  ≤ 0.001, d = 0.85), VAS pain intensity ( p  ≤ 0.001, d = 1.22) and CHAQ‐30 ( p  ≤ 0.001, d = 1.16) and lower on the PCS‐C ( p  = 0.017, d = −0.82) and PCS‐P ( p  ≤ 0.001, d = −0.49). The intensity of nonspecific somatic symptoms and pain explained 45% of the variance in disability ( r 2  = 0.45 F(2,48) = 19.70, p  ≤ 0.001). In children ≤ 7 years ( n = 37),   pain was present in 35% with a median of 5(IQR = 1–13) pain areas. The mean( SD ) VAS scores for pain intensity was 1.5(2.9). Functional disability was moderately correlated to the number of pain areas ( r  = 0.56, p  ≤ 0.001), intensity of nonspecific somatic symptoms ( r  = 0.63, p  ≤ 0.001) and pain ( r  = 0.83, p  ≤ 0.001). In conclusion, this study supports the need for comprehensive assessment of nonspecific somatic symptoms, pain, and disability in children with HCTD to allow tailored treatment.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v191.7
    DOI: 10.1002/ajmg.a.63204
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 1493479-6
    detail.hit.zdb_id: 2108614-X
    SSG: 12
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