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  • 1
    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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  • 2
    Online Resource
    Online Resource
    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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  • 3
    Online Resource
    Online Resource
    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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  • 4
    Online Resource
    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
    SSG: 12
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  • 5
    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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