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  • 1
    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
    detail.hit.zdb_id: 2647723-3
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  • 2
    Online Resource
    Online Resource
    An exploratory study of clinical characteristics and gait features of adolescents with hypermobility disorders
    Elsevier BV ; 2023
    In:  Gait & Posture Vol. 100 ( 2023-02), p. 222-229
    Details
    In: Gait & Posture, Elsevier BV, Vol. 100 ( 2023-02), p. 222-229
    Type of Medium: Online Resource
    ISSN: 0966-6362
    URL: Article
    DOI: 10.1016/j.gaitpost.2023.01.001
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 1500471-5
    SSG: 31
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  • 3
    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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  • 4
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    Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
    MDPI AG ; 2021
    In:  Genes Vol. 12, No. 6 ( 2021-05-28), p. 831-
    Details
    In: Genes, MDPI AG, Vol. 12, No. 6 ( 2021-05-28), p. 831-
    Abstract: 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, rs = 0.68), pain (p 〈 0.001, rs = 0.64) and general health (p 〈 0.001, rs = 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.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes12060831
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 5
    Online Resource
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    Physical activity and physical fitness in children with heritable connective tissue disorders
    Frontiers Media SA ; 2023
    In:  Frontiers in Pediatrics Vol. 11 ( 2023-3-17)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 11 ( 2023-3-17)
    Abstract: Health problems in patients with heritable connective tissue disorders (HCTD) are diverse and complex and might lead to lower physical activity (PA) and physical fitness (PF). This study aimed to investigate the PA and PF of children with heritable connective tissue disorders (HCTD). Methods PA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2). Results A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8–15.8) years, diagnosed with Marfan syndrome (MFS), n  = 37, Loeys-Dietz syndrome (LDS), n  = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n  = 13 (including classical EDS n  = 10, vascular EDS n  = 1, dermatosparaxis EDS n  = 1, arthrochalasia EDS n  = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5–5.2) hours/day, spent 9.2 (IQR 7.6–10.4) hours/day sedentary, slept 11.2 (IQR 9.5–11.5) hours/day, and performed 8,351.7 (IQR 6,456.9–1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z -score −1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z -score −3.3 (3.2)) and below average on the HGD (mean (SD) z -score −1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z -score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p   & lt; .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p   & lt; .001 and r(24) = .395 p   & lt; .001, respectively). Conclusion This study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2023.1057070
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2711999-3
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  • 6
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    Effects of Upper-Extremity Surgery on Manual Performance of Children and Adolescents with Cerebral Palsy : A Multidisciplinary Approach Using Shared Decision-Making
    Ovid Technologies (Wolters Kluwer Health) ; 2018
    In:  Journal of Bone and Joint Surgery Vol. 100, No. 16 ( 2018-8-15), p. 1416-1422
    Details
    In: Journal of Bone and Joint Surgery, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 16 ( 2018-8-15), p. 1416-1422
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 0021-9355 , 1535-1386
    URL: Article
    DOI: 10.2106/JBJS.17.01382
    RVK:
    XA 52200.A
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2018
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  • 7
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    Online Resource
    Study protocol: precision of a protocol for manual intramuscular needle placement checked by passive stretching and relaxing of the target muscle in the lower extremity during BTX-A treatment in children with spastic cerebral palsy, as verified by means of electrical stimulation
    Springer Science and Business Media LLC ; 2013
    In:  BMC Pediatrics Vol. 13, No. 1 ( 2013-12)
    Details
    In: BMC Pediatrics, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2013-12)
    Type of Medium: Online Resource
    ISSN: 1471-2431
    URL: Article
    DOI: 10.1186/1471-2431-13-129
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2013
    detail.hit.zdb_id: 2041342-7
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  • 8
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    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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