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 (r2 = 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.
Objectives: 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 < .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p < .001 and r(24) = .395 p < .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.
Background: 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. Methods: 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.Results: 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. Conclusions: 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.
MULTIFILE
