Patient and Parent Knowledge, Understanding, and Concerns After a New Diagnosis of Ehlers Danlos Syndrome.

Introduction: After diagnosis of Ehlers Danlos Syndrome (EDS), it is unclear what information patients and parents need and understand about EDS. The objective of this study is to characterize patient and parent knowledge and concerns about EDS after a diagnosis of EDS is made to determine patient and parent concerns and identify barriers that cause discomfort with the diagnosis. Methods: A convenience sample of patient and parent dyads were recruited after new diagnosis of EDS. Patients and parents completed questionnaires that assessed knowledge, comfort, and barriers of EDS before and after diagnosis, EDS education materials accessed, and additional clinical needs and concerns. Results: Seventy-two dyads completed the survey. Conclusion: Many respondents actively seek information on the diagnosis and management of EDS. Parents and patients look for information about EDS differently. Parents have more concerns after diagnosis and both want well-constructed, empirically supported educational materials delivered via multiple modalities, which makes clinical guidelines more essential.

Investigation of patients' understanding of fibromyalgia: Results from an online qualitative survey.

OBJECTIVE: An important component to effective fibromyalgia treatment is patient education about the condition. While previous educational interventions have been developed, these have not incorporated the lived experiences of patients and may not address common misunderstandings among those who may benefit from these interventions. This study aimed to explore understanding, confusion, and gaps in knowledge about fibromyalgia among those who report a fibromyalgia diagnosis. METHODS: Participants were recruited via clinic flyers and the social media page of a chronic pain research laboratory. Participants completed an online survey that assessed their knowledge of fibromyalgia via open-ended questions. Responses were analyzed via thematic analysis to identify, analyze, and report themes. RESULTS: Thirty-eight participants completed the survey (63% female, ages 18-68). Common themes that arose from patients included being unsure of the cause of their fibromyalgia, frustration and confusion about the random/variable nature of symptoms and flares, feeling that their condition was invisible, and desiring more information on available treatments. CONCLUSION: Participants in this study expressed confusion about many aspects of fibromyalgia and a desire for more understanding from others in their life about this condition. PRACTICE IMPLICATIONS: Future interventions would benefit from tailoring fibromyalgia education to the specific knowledge and lived experiences of patients.

Cardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review.

BACKGROUND: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations, such as cardiovascular symptoms, musculoskeletal pain, and joint instability. Cardiovascular symptoms, such as lightheadedness and palpitations, and types of dysautonomia, including postural orthostatic tachycardia syndrome (POTS), are frequently reported in adults with hEDS and have been shown to negatively impact quality of life (QoL). OBJECTIVE: This brief review will be an overview of co-occurring symptoms in POTS and hEDS to inform potential cardiovascular screening procedures. RESULTS: While many patients with hEDS report cardiovascular symptoms, few have structural abnormalities, suggesting that dysautonomia is likely responsible for these symptoms. One validated screening measure for dysautonomia symptom burden is the Composite Autonomic Symptom Scale (COMPASS-31). Studies have found that adults with POTS, hEDS, and both POTS and hEDS have higher COMPASS-31 scores than the general population, suggesting a high symptom burden due to dysautonomia, which leads to impaired QoL. CONCLUSION: While studies have examined cardiovascular symptoms and the impact of dysautonomia in adults with and without hEDS, there is scant literature on dysautonomia in pediatric patients with hEDS. Therefore, more studies on cardiovascular symptoms and dysautonomia, as they relate to the quality of life in pediatric patients with hEDS, are needed. This brief review summarizes the current literature on dysautonomia and cardiovascular symptoms in pediatric and adult populations with hEDS.

Psychosocial Functioning of Parents of Youth Receiving Intensive Interdisciplinary Pain Treatment.

OBJECTIVE: Parents of youth with chronic pain report psychosocial difficulties, yet treatment often focuses on improving their child's functioning and pain. This study evaluated changes in parents' social and emotional functioning and explored predictors of change, as they completed a parent-focused intervention while their child was enrolled in an intensive interdisciplinary pain treatment (IIPT) program. METHODS: Parents (n = 69) completed questionnaires at baseline and weekly (average duration of 4 weeks) during their child's participation in IIPT. Parents engaged in 3 groups per week providing education, therapeutic art, and psychotherapy (3 hr/week total). RESULTS: At baseline, 38% of parents reported scores in the clinically elevated range for at least 1 psychosocial variable. Linear mixed modeling for the full sample indicated reduced parent anxiety (t = -2.72, p <.01) and depression (t = -3.59, p <.001), but not increased emotional support (t = 1.86, p >. 05) or reduced social isolation (t = -1.20, p >.05). For parents with at least moderately elevated psychosocial concerns, statistically significant improvements were observed for all 4 outcomes (all p's<.01). Psychological flexibility, cognitive reappraisal, and emotional suppression were found to be related to changes in parent outcomes (anxiety, depression, isolation, and support). CONCLUSIONS: Findings support the benefit of parent-focused interventions in addition to child-focused interventions. Many parents of youth participating in IIPT had elevated scores for at least 1 psychosocial concern at baseline. Brief, parent-focused intervention including psychoeducation, therapeutic art, and psychotherapy targeting mindfulness, acceptance, and values had a significant impact on these parents, particularly those with greater struggles at baseline.

The effects of joint hypermobility on pain and functional biomechanics in adolescents with juvenile fibromyalgia: secondary baseline analysis from a pilot randomized controlled trial.

BACKGROUND: Joint hypermobility is a common clinical finding amongst hereditary connective tissue disorders that is observed in pediatric rheumatological settings, and often associated with chronic pain. Joint hypermobility may also contribute to deficits in physical functioning and physical activity, but previous findings have been inconsistent. It is possible that physical activity impairment in joint hypermobility may be due to chronic aberrant movement patterns subsequent to increased joint laxity. METHOD: As part of a larger randomized pilot trial of juvenile onset fibromyalgia (JFM), a secondary analysis was conducted to explore whether adolescents with JFM and joint hypermobility differed from non-joint hypermobility peers in terms of pain, daily functioning, and biomechanics (i.e., kinetics and kinematics) during a moderately vigorous functional task. RESULTS: From the larger sample of adolescents with JFM (N = 36), 13 adolescents (36.1%) met criteria for joint hypermobility and 23 did not have joint hypermobility. Those with joint hypermobility exhibited poorer overall functioning (Md = 20, Q1,Q3 [5.8, 7.6] vs. Md = 29, Q1,Q3 [5.1, 7.6]) but there were no differences in pain (Md = 6.9, Q1,Q3 [22, 33], vs. Md = 6.45, Q1,Q3 [15, 29.5]). Inspection of time-series plots suggests those with joint hypermobility exhibited decreased hip flexion and frontal plane hip moment (e.g., resistance to dynamic valgus) during the landing phase (early stance) and greater hip and knee transverse plane moments during the propulsion phase (late stance) of the drop vertical jump task (DVJ). No other differences in lower extremity biomechanics were observed between study groups. CONCLUSIONS: In this exploratory study, there were small but notable differences in biomechanics between patients with JFM who also had joint hypermobility versus those without joint hypermobility during a landing and jumping task (e.g., DVJ). These differences may indicate decreased joint stiffness during landing, associated with increased joint laxity and decreased joint stability, which may put them at greater risk for injury. Further study with a larger sample size is warranted to examine whether these biomechanical differences in patients with JFM and joint hypermobility affect their response to typical physical therapy or exercise recommendations.

Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis.

Objectives: Ehlers-Danlos Syndromes (EDS) are a family of heritable connective tissue diseases. Primary practitioners are capable of diagnosing and managing EDS; however, few are knowledgeable and comfortable enough to see patients with EDS, resulting in delays in diagnosis and care. This study explores the barriers physicians experience with diagnosing, managing, and caring for patients with EDS, and potential resolutions to those barriers. Methods: As part of a larger online study, providers (n = 107) in the United States were asked to specify "What information would improve (their) comfort" in diagnosing, caring for, and managing EDS via open-ended questions. Results: Providers reported wanting clinical practice guidelines, in formats that were easily accessible and usable, information on their roles in the management of EDS, the best ways to coordinate with specialty care, and available specialty consultation. Conclusions: Providers overall are willing to diagnose and treat EDS; however, additional supports and training are needed.

Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies.

Ehlers-Danlos Syndromes (EDS) is a group of connective tissue disorders often encountered within rheumatology clinics and is associated with several overlapping symptoms, which may require attention from other medical subspecialities. Barriers exist to implementing multidisciplinary care for EDS, including a lack of knowledge, comfort, and time managing EDS. In the absence of multidisciplinary care, patients are often forced to self-coordinate care. This can lead to gaps in care and a lack of clarity of medical ownership over the patient's care. Integrated multidisciplinary clinics are sorely needed, but the development and implementation of such clinics is limited by resources and personnel. As such, the development of a multidisciplinary clinic can be daunting and may serve to discourage providers with competencies in EDS from attempting to develop this service. In this editorial, we share our experiences in developing a multidisciplinary clinic for EDS at a moderately-sized children's hospital, relying on several core disciplines with established EDS clinical loads (ie, rheumatology, cardiology, genetics, and psychology). We discuss considerations for the expansion of this service, pitfalls, and barriers throughout the development of the clinic, and our rationale underlying our process-related decisions. Development of a greater number of multidisciplinary EDS clinics, even in the potential absence of larger institutional support, is both possible and imperative for improving EDS care globally.

Resource utilization and multidisciplinary care needs for patients with Ehlers-Danlos syndrome.

BACKGROUND: Ehlers-Danlos syndrome (EDS) represents a family of heritable connective tissue disorders with overlapping phenotypic features, frequently including joint hypermobility, tissue fragility, and skin hyperextensibility. Comorbid symptoms are common for patients with EDS and include multiple body systems marked by neurologic, cardiovascular, gastrointestinal, musculoskeletal issues, chronic pain, headaches, and anxiety and depression. The many comorbidities lead to high disease burden, which requires greater healthcare utilization. METHODS: This survey of families examines healthcare utilization, of adults and minors, through evaluation of subspecialty care appointments across many healthcare systems in one region. RESULTS: There were 155 adults and 83 minors with a diagnosis of EDS with a total of 693 unique visits across 27 different specialties at over 20 different hospitals or clinics in the surveyed area. Cardiology, neurology, and gastroenterology were the most utilized subspecialties for adults, while rheumatology, cardiology, and neurology were most utilized by minors. Many respondents (67%) reported their medical care needs are not being met, and 87% reported interest in a multidisciplinary clinic for EDS with the most interest in pain management, physical and occupational therapy, and rheumatology. CONCLUSION: Understanding healthcare utilization and needs of those with EDS can provide the foundation for improved care for those with EDS through a coordinated multidisciplinary care model.

Microtemporal Relationships in the Fear Avoidance Model: An Ecological Momentary Assessment Study.

OBJECTIVES: Current literature in pediatric pain evaluates the Fear Avoidance model (FAM) pathways at the trait (or macrotemporal) level, but it is unknown if these pathways also occur at the state (or microtemporal) level. Identifying microtemporal processes can improve our understanding of how the relationships within the Fear Avoidance constructs vary when specific Fear Avoidance variables wax and wane. We hypothesized that changes in FAM constructs would be associated with changes in the next variable in the sequence on a microtemporal level, including: (1) higher pain when there is more pain-related fear, (2) higher pain-related fear when there is more avoidance, and (3) higher avoidance when there is more reported disability. METHODS: 71 pediatric patients with chronic abdominal pain ( M =13.34 y, SD=2.67 y) reported pain severity, pain-related fear, and avoidance via ecological momentary assessments over 14 days. RESULTS: Our results indicated significant microtemporal relationships between Fear Avoidance constructs for pain predicting pain-related fear, pain-related fear predicting avoidance, and avoidance predicting disability. DISCUSSION: The current study suggests that the ways in which the FAM is related to various aspects of pain functioning differs on a state-level, which adds new clinical and research opportunities.

Gender dysphoria in adolescents with Ehlers-Danlos syndrome.

Objectives: Ehlers-Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers-Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers-Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers-Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers-Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic. Methods: A retrospective chart review was performed and it was found that 28 patients were seen in the Ehlers-Danlos Syndrome multidisciplinary clinic were reported being transgender and gender diverse. Chart review included analysis of all documents in the electronic medical record, including demographic data, gender identity, chosen pronouns, specialty care previously received for Ehlers-Danlos Syndrome, symptoms and conditions related to it, and medications. Results: Of the 166 total adolescents seen in the pediatric multidisciplinary Ehlers-Danlos Syndrome clinic during the study period, 17% reported gender dysphoria. The average age at Ehlers-Danlos Syndrome diagnosis was 13.5 years (range 8-17 years). Most (61%) reported their gender identity as transgender, followed by nonbinary (14%). Most had preferred male (he/him) pronouns (47%), followed by nonbinary (they/them) pronouns (39%). The vast majority reported fatigue (75%), musculoskeletal issues (96%), psychiatric issues (86%), cardiac issues (71%), gastrointestinal issues (68%), and neurologic issues (79%). Conclusions: Here we report the first cohort of transgender and gender diverse adolescents in the Ehlers-Danlos syndrome population and show an association between the two. This report increases awareness for providers who care for patients with Ehlers-Danlos Syndrome. As care for those with Ehlers-Danlos Syndrome is often complex and multidisciplinary, providers should adopt practices of gender-affirming medical care that contribute to improved care and outcomes.

Health-Related Quality of Life across Recent Pediatric Obesity Classification Recommendations.

Extreme body mass index (BMI) values (i.e., above the 97th and below the 3rd percentiles) are inaccurately represented on the Centers for Disease Control and Prevention's growth curves, which may limit the utility of BMI percentile and BMI z-score for capturing changes in clinical outcomes for patients at extreme weights. Modeling child obesity severity based upon the percentage of BMI in excess of the 95th percentile (BMI95pct) has been proposed as an improved metric to better capture variability in weight at extreme ends of growth curves, which may improve our understanding of relationships between weight status and changes in clinical outcomes. However, few studies have evaluated whether the use of BMI95pct would refine our understanding of differences in clinical psychosocial constructs compared to previous methods for categorization. This cross-sectional study evaluated child obesity severity based on BMI95pct to examine potential group differences in a validated, obesity-specific measure of Health-Related Quality of Life (HRQoL). Four hundred and sixty-five children with obesity completed Sizing Me Up, a self-report measure of HRQoL. Children were classified into categories based on BMI95pct (i.e., class I: ≥100% and <120%; class II: ≥120% and <140%; class III: ≥140%). The results indicate that children with class III obesity reported lower HRQoL than children with class I and class II obesity; however, there were no differences between Class II and Class I. In much of the previous literature, children with class II and class III obesity are often combined under the category "Severe Obesity" based upon BMI above the 99th percentile. This study suggests that grouping children from various classes together would neglect to capture critical differences in HRQoL. Future research including children with severe obesity should consider obesity classes to best account for functioning and clinical outcomes.

Hair Cortisol and Self-Injurious Behavior Among Children With Autism Spectrum Disorder.

Elevated salivary cortisol levels have been documented in individuals who engage in self-injurious behavior (SIB), indicating acute physiological stress. Less is known about the chronicity of stress and SIB. We analyzed the relationship between parent ratings of problem behavior and hair cortisol concentrations (an index of chronic adrenocortical activity) in 23 children with autism spectrum disorder (ASD). Parent ratings of problem behavior were not significantly correlated with hair cortisol concentrations. When children were categorized into groups based on the frequency and severity of SIB, participants with the greatest frequency and severity of SIB had higher hair cortisol concentrations compared to children without SIB. Frequent and severe SIB may be associated with altered hypothalamic-pituitary-adrenal (HPA) axis activity in children with ASD.

Preliminary Evidence for the Fibromyalgia Integrative Training Program (FIT Teens) Improving Strength and Movement Biomechanics in Juvenile Fibromyalgia: Secondary Analysis and Results from a Pilot Randomized Clinical Trial.

OBJECTIVES: Current therapies for juvenile fibromyalgia (JFM), such as cognitive-behavioral therapy (CBT), improve pain coping but are less effective for pain reduction or engagement in physical activity. The Fibromyalgia Integrative Training for Teens (FIT Teens) program combines CBT with specialized neuromuscular exercise training for adolescents with JFM. The current investigation examined the effects of FIT Teens versus CBT on secondary outcomes of strength and functional biomechanics, utilizing 3D Motion capture technology. This study aimed to explore improvements in strength and biomechanics in both a CBT-only group and the FIT Teens intervention. MATERIALS AND METHODS: Forty adolescents with JFM (12 to 18 y) were randomized to an 8-week, group-based protocol of either FIT Teens or CBT only. Assessments occurred pretreatment and posttreatment. Hip and knee strength were assessed with dynamometry, dynamic postural stability was measured using the Star Excursion Balance Test, and movement biomechanics were assessed with 3D motion analyses during a drop vertical jump (DVJ) task. RESULTS: The FIT Teens group exhibited improvements in hip abduction strength and greater external hip rotation during the DVJ task. Some differences between the FIT Teens and CBT groups were observed in peak hip internal moment in the transverse plane. Decreased hip adduction during the DVJ was also observed in the FIT Teens group. DISCUSSION: Results suggest that the FIT Teens program shows promise in improving hip abduction strength and body biomechanics, indicating improvements in stability during functional movements. These improvements may facilitate ability to initiate and maintain regular physical activity in youth with widespread musculoskeletal pain.

Utility of the PROMIS Pediatric Pain Interference Scale in Juvenile Fibromyalgia.

OBJECTIVE: The current study tested the utility of the PROMIS Pediatric Pain Interference (PPI) in relation to the widely-used Functional Disability Inventory (FDI) in a small-scale clinical trial. METHODS: Forty youth with juvenile fibromyalgia (JFM) were randomized to either CBT only or a combined CBT and neuromuscular exercise group (i.e., FIT Teens). Participants completed the PPI and FDI at baseline, post-treatment, and three-month follow-up. RESULTS: The PPI and FDI were significantly correlated at baseline (r = .51) and post treatment (r = .53), and demonstrated similar improvements (d PPI = .87, d FDI = 1.22, p < .05) at post-treatment following FIT Teens. Following CBT only, neither the PPI nor the FDI improved significantly. CONCLUSIONS: The PPI may be appropriate for use in non-pharmacologic interventions for pediatric pain.

Long-term outcomes of adolescents with juvenile-onset fibromyalgia into adulthood and impact of depressive symptoms on functioning over time.

Juvenile-onset fibromyalgia (JFM) is typically diagnosed in adolescence and characterized by widespread pain and marked functional impairment. The long-term impact of JFM into adulthood is poorly understood. The objectives of this study were to describe physical and psychosocial outcomes of youth diagnosed with JFM in early adulthood (∼8-year follow-up), examine longitudinal trajectories of pain and depressive symptoms from adolescence to young adulthood, and examine the impact of pain and depressive symptoms on physical functioning over time. Participants were 97 youth with JFM enrolled in a prospective longitudinal study in which pain symptoms, and physical and psychosocial functioning were assessed at 4 time points over approximately 8 years. At the time 4 follow-up (Mage = 24.2 years), the majority continued to suffer from pain and impairment in physical, social, and psychological domains. However, trajectories of pain and emotional symptoms showed varying patterns. Longitudinal analysis using growth mixture modeling revealed 2 pain trajectories (Steady Improvement and Rapid Rebounding Improvement), whereas depressive symptoms followed 3 distinct trajectories (Low-Stable, Improving, and Worsening). Membership in the Worsening Depressive symptoms group was associated with poorer physical functioning over time (P < 0.001) compared with the Low-Stable and Improving groups. This study offers evidence that although JFM symptoms persist for most individuals, pain severity tends to decrease over time. However, depressive symptoms follow distinct trajectories that indicate subgroups of JFM. In particular, JFM patients with worsening depressive symptoms showed decreasing physical functioning and may require more intensive and consistent intervention to prevent long-term disability.

Pilot Randomized Trial of Integrated Cognitive-Behavioral Therapy and Neuromuscular Training for Juvenile Fibromyalgia: The FIT Teens Program.

Cognitive-behavioral therapy (CBT) improves coping and daily functioning in adolescents with juvenile fibromyalgia (JFM), but is less effective in reducing pain. This pilot trial evaluated the efficacy of a novel intervention (Fibromyalgia Integrative Training for Teens; FIT Teens) which integrates CBT with specialized neuromuscular exercise training to enhance the effect of treatment on reducing pain and disability. Forty adolescents with JFM (12-18 years) were randomized to CBT-only or FIT Teens. Treatment was conducted in group-based sessions over 8 weeks with assessments at baseline, post-treatment, and 3-month follow-up (primary end point). Primary outcomes were pain intensity and functional disability. Secondary outcomes were depressive symptoms, fear of movement, and pain catastrophizing. Thirty-six participants (mean age=15.33 years; 90% female) completed the program. Intent to treat analysis was conducted to evaluate differences between the FIT Teens and CBT groups from baseline to 3-month follow-up, controlling for baseline group differences. Participants in the FIT Teens group showed significantly greater decreases in pain than the CBT group. FIT Teens participants also showed significant improvements in disability, but did not differ from CBT-only at the 3-month end point. Results provide preliminary evidence that the FIT Teens intervention provides added benefits beyond CBT in the treatment of JFM, particularly in pain reduction. PERSPECTIVE: Results from this pilot randomized controlled trial of a new combined CBT and specialized neuromuscular exercise intervention (FIT Teens), compared with CBT alone suggested that FIT Teens offers stronger treatment benefits than CBT alone at initial treatment follow-up, especially with respect to the outcome of pain reduction.

The Relationship Between Pain, Self-Injury, and Other Problem Behaviors in Young Children With Autism and Other Developmental Disabilities.

Research has suggested that individuals who engage in self-injurious behavior may have enhanced expressions of pain, which contradicts previous assertions of blunted pain sensitivity in this population. The purpose of this study was to measure expressions of pain among young children being evaluated for autism and other neurodevelopmental disabilities. The frequency of pain-related behaviors was assessed during everyday routines using the Non-Communicating Children's Pain Checklist (NCCPC-R) for 51 children. Significant group differences between children with and without self-injury were found for the NCCPC-R total scores. The frequency and severity of self-injury, aggression, and stereotypy were also highly correlated with the total scores on the NCCPC-R. These results continue to support that individuals with self-injury may have enhanced expressions of pain.