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.
OBJECTIVE: Juvenile dermatomyositis (DM) is an inflammatory myopathy in which the immune system targets the microvasculature of the skeletal muscle and skin, leading to significant muscle weakness and exercise intolerance, although the precise etiology is unknown. The goal of this study was to investigate the changes in exercise capacity in children with myositis during active and inactive disease periods and to study the responsiveness of exercise parameters.METHODS: Thirteen children with juvenile DM (mean+/-SD age 11.2+/-2.6 years) participated in this study. Patients performed a maximal exercise test using an electronically braked cycle ergometer and respiratory gas analysis system. Exercise parameters were analyzed, including peak oxygen uptake (VO2peak), peak work rate (Wpeak), and ventilatory anaerobic threshold (VAT). All children were tested during an active period of the disease and during a remission period. From these data, 4 different response statistics were calculated.RESULTS: The children performed significantly better during a remission period compared with a period of active disease. Most exercise parameters showed a very large response. The 5 most responsive parameters were Wpeak, Wpeak (percent predicted), oxygen pulse, VO2peak, and power at the VAT.CONCLUSION: We found in our longitudinal study that children with active juvenile DM had significantly reduced exercise parameters compared with a remission period. Moreover, we found that several parameters had very good responsiveness. With previously established validity and reliability, exercise testing has been demonstrated to be an excellent noninvasive instrument for the longitudinal followup of children with myositis.
Het succesvol integreren van eHealth-innovaties, is van vitaal belang voor het verbeteren van de zorgkwaliteit en toegankelijkheid. Thuismeten is een van de innovaties die kan bijdragen aan een efficiëntere zorgverlening en een betere toegankelijkheid. Onderzoek toont aan dat digitaal thuis meten aanzienlijke voordelen biedt, waaronder een betere patiëntervaring, meer regie over het zorgproces, verbeterde veiligheid en kostenbesparingen. Juveniele dermatomyositis (JDM), een zeldzame ziekte bij kinderen, zou aanzienlijke voordelen kunnen halen uit thuismeten. Momenteel zijn monitoringtools zoals de Childhood Myositis Assessment Scale (CMAS) alleen beschikbaar in gespecialiseerde medische centra, wat frequente monitoring moeilijk maakt. Een veelbelovende ontwikkeling is het gebruik van AI-gebaseerde oplossingen voor real-time analyse van videobeelden. Deze ontwikkeling roept echter nog vragen op over acceptatie en betrouwbaarheid en inzetbaarheid. Daarom heeft Zuyd Hogeschool (Lectoraat Dataintelligence) samen met de kennis en praktijk partners Kinderfysiotherapie (Hogeschool Rotterdam), het Wilhelmina Kinderziekenhuis en eerstelijns kinderfysiotherapeuten het afgelopen jaar vooronderzoek gedaan naar deze praktijk problemen om tot de volgende vraagstelling te komen, die we met behulp van deze RAAK-publiek subsidie hopen te kunnen beantwoorden: Hoe kunnen we de implementatie van betrouwbare AI-gebaseerde thuismetingsoplossingen bevorderen om meer frequente en consistente ziekte monitoring mogelijk te maken, de fysiotherapeutische behandeling te optimaliseren en daarmee de kwaliteit van zorg voor kinderen met JDM te verbeteren? De beantwoording van deze vraag vereist een duidelijke co-creatieaanpak, nauwe betrokkenheid van zorgprofessionals en richtlijnen om de kansen en uitdagingen van thuismeten met behulp van AI in de praktijk te adresseren.
