Patient experience of chronic illness care and complementary integrative health use: a cross-sectional study of patients with hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS).

PURPOSE: Hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS) are frequently underdiagnosed, contributing to patient dissatisfaction in the healthcare system. This study evaluated the health service utilization, care, and subjective experiences of living with chronic illness among adults with HSD and EDS in the United States and Canada. METHODS: This was an anonymous, web-based, cross-sectional healthcare survey. The survey obtained basic demographic information, the Patient Assessment of Chronic Illness Care (PACIC+), as well as responses to questions on the use of healthcare and integrative medicine. RESULTS: A total of 353 surveys were received. The most common complementary therapies used were physical therapy (82%), massage (68%), yoga (58%), chiropractic (48%), and meditation (43%). Mean (SD) summary PACIC and PACIC 5 As scores were 2.16 (0.77) and 2.25 (0.83), respectively. Across all PACIC domains, mean scores of individuals whose typical doctor visit was 30 min or at least an hour were significantly higher than those of individuals who indicated typical visits of 15 min (all p < 0.0001 by one-way ANOVA). There was widespread agreement on the importance of patient-provider relationship and trust, physicians' understanding of the individual's complete medical history, and prioritization of physical and emotional safety (>95% agree or strongly agree to each). CONCLUSION: Individuals with HSD or EDS report low satisfaction with chronic illness care and commonly seek out complementary and self-administered therapies, likely in an attempt to manage symptoms. Respondents reported a desire for greater time and attention from physicians. Results from this study could educate the healthcare community to improve support mechanisms for HSD and EDS populations.IMPLICATIONS FOR REHABILITATIONPatients with hypermobility spectrum disorders (HSD) or Ehlers-Danlos syndromes (EDS) express a desire for patient-centered care and peer support from other individuals with HSD or EDS.Individuals with HSD or EDS have typically seen multiple doctors for their condition and their satisfaction with chronic care, as measured by the Patient Assessment of Chronic Illness Care (PACIC+), is low.The use of various complementary and integrative health treatments, as well as specialized diets, is common in this population, and might be beneficial for symptom management.Healthcare delivery for HSD and EDS may require a multidisciplinary healthcare team, as complementary and self-care modalities are typically used in addition to physical therapy, pain medication, and other conventional care.

Knee arthrodesis for a congenital luxation with Larsen syndrome.

A 31-year-old woman with known Larsen syndrome presented with congenital chronic luxation of her right knee with increasing instability symptoms, which limited her daily activities. We refrained from a constrained knee arthroplasty due to her relatively young age and decided to perform a knee arthrodesis. Knee arthrodesis is a viable lifelong-lasting operative treatment alternative for specific instability-related knee disease. The knee arthrodesis was performed by double plating with an additional fixation of the patella. At 1-yearfollow-up, she was able to walk without limitations and did not experience any pain with complete consolidation of the arthrodesis. At 2-year follow-up, she performed all her daily activities without limitations. Both the Knee injury and Osteoarthritis Outcome Score (KOOS) and the International Knee Documentation Committee subjective knee form (IKDC) improved at 2-year follow-up (KOOS: 61.3; IKDC: 56.3) compared with 1-year follow-up (KOOS: 52; IKDC: 40.2).

Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. RESULTS: Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type and 19.3% (n = 27) in controls. Subjective health complaints were significantly higher in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type - than in the controls (32.06 vs. 11.08; p < 0.001). Further the brief illness perception questionnaire indicated that the adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type had low understanding of their illness and symptoms (understanding, mean: 3.93, SD 2.88), and reported to have moderate personal and treatment control over their illness. CONCLUSION: Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported higher frequency and severity of subjective health complaints than the matched controls from the general adult population in Norway. Furthermore, Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported low understanding of their illness and associated symptoms, and moderate belief that their illness can be kept under control through self-management or treatment. This may indicate one of the reasons why prognosis for these patients is poor. Implications for rehabilitation Awareness of the complexity of the subjective health complaints and inquiry into illness perception could contribute with valuable information about these patients' perceptions of their condition. Such information could in its turn be of value for clinicians as they work towards facilitating a more holistic treatment approach, for example patient education and cognitive behavioural therapy.

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Cortical development is a complex process where a multitude of factors, including cadherins, plays an important role and where disruptions are known to have far reaching effects in neural development and cortical patterning. Cadherins play a central role in structural left-right differentiation during brain and body development, but their effect on a functional level remains elusive. We addressed this question by examining functional cerebral asymmetries in a patient with Van Maldergem Syndrome (VMS) (MIM#601390), which is caused by mutations in DCHS1-FAT4 cadherins, using a dichotic listening task. Using neurophysiological (EEG) data, we show that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger. Basic perceptual processing of biaurally presented auditory stimuli was unaffected. This suggests that the strength and emergence of functional cerebral asymmetries is a direct function of proliferation and differentiation of neuronal stem cells. Moreover, these results support the recent assumption that the molecular mechanisms establishing early left-right differentiation are an important factor in the ontogenesis of functional lateralization.

Electrical (faradic) stimulation versus active mobilization exercise in the physical management of post-surgical temporomandibular joint hypomobility.

This clinical study compared the efficacy of faradic stimulation and active mobilization exercises in the physical management of patients with post-surgical immobilization of the temporomandibular joint (TMJ) resulting in hypomobility of the joint. Eight volunteer dental patients with post-surgical immobilization TMJ hypomobility at the University College Hospital (U.C.H.), Ibadan, Nigeria participated in the study. Duration of TMJ immobilization was between 6 and 10 weeks (mean 7.13 +/- 1.55). Patients were alternately assigned to two groups as they became available. Patients in group A received mild infra-red radiation to the TMJ region and faradic stimulation to the muscles that move the joint while patients in group B had mild infra-red radiation and TMJ mobilization exercises. Treatment continued until pain relief and full range of the TMJ were attained. However after three treatment sessions, attendance became irregular because the patients were satisfied with their recovery. Pain perception was measured using the visual analogue scale. Interincisal opening was measured using a pair of mathematical set divider and a measuring ruler. The results showed that both faradic stimulation and exercises significantly improved the interincisal opening and pain perception although electrical stimulation improved mouth opening more significantly than active exercise.