Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study.

BACKGROUND: Centers for rare diseases serve as contact points for patients with complex, often undiagnosed complaints and persistent somatic symptoms of heterogeneous origin. Little is known about psychological distress of patients consulting these centers. OBJECTIVES: To better understand psychological distress of adult patients presenting at a center for rare diseases by determining the proportion of patients screening positive for depressive, anxiety, and somatic symptom disorders (SSD) and to identify factors associated with increased psychopathology. METHODS: Cross-sectional data from the routine care registry of the Martin Zeitz Center for Rare Diseases (MZCSE) at the University Medical Center Hamburg-Eppendorf in Germany was retrieved and analyzed. We included all adult patients presenting between October 01,2020 and September 30,2021, who gave written informed consent. MEASURES: Sociodemographic variables, medical history and healthcare utilization, as well as validated measures to screen for a depressive disorder (PHQ-8), an anxiety disorder (GAD-7), and SSD (PHQ-15, SSD-12). RESULTS: N = 167 patients were included (age 44.5 ± 14.3 years, 64.7% female). A total of 40.7% of the patients screened positive for a depressive disorder (PHQ-8 ≥ 10), 27.5% for an anxiety disorder (GAD-7 ≥ 10) and 45.0% screened positive for SSD (PHQ-15 ≥ 9 & SSD-12 ≥ 23). Factors associated with increased psychopathology included the number of symptoms, the number of different specialties consulted before and past psychotherapy. CONCLUSIONS: Patients presenting at centers for rare diseases are likely to experience high rates of psychological distress. Systematically screening patients with rare and undiagnosed diseases for mental disorders can help to detect those at risk at an early stage and initiate adequate psychological care.

Improving quality of life in patients with rare autoimmune liver diseases by structured peer-delivered support (Q.RARE.LI): study protocol for a transnational effectiveness-implementation hybrid trial.

BACKGROUND: Psychosocial support is a crucial component of adequate rare disease care, but to date psychosocial support needs of this patient population are insufficiently met. Within Q.RARE.LI, we strive to evaluate the effectiveness of a structured, transdiagnostic, and location-independent psychosocial support intervention in routine care of patients with rare autoimmune liver diseases in five countries and prepare its implementation. METHODS: Within an effectiveness-implementation hybrid trial, we aim to a) investigate the effectiveness of the intervention in routine care in five diverse healthcare systems and b) assess implementation outcomes, examine and prepare the implementation context, and develop country-specific implementation strategies. To assess effectiveness, we will include N = 240 patients with rare autoimmune liver diseases. Within a two-armed randomized controlled trial (allocation ratio 1:1), we will compare structured and peer-delivered psychosocial support in addition to care-as-usual (CAU) with CAU alone. Outcomes will be assessed via electronic database entry prior to intervention, directly after, and at a three-month follow-up. Our primary effectiveness outcome will be mental health-related quality of life at post-assessment. Secondary outcomes include depression and anxiety severity, perceived social support, helplessness, and disease acceptance. Implementation outcomes will be assessed within a mixed-methods process evaluation. In a quantitative cross-sectional survey, we will examine perceived acceptability and feasibility in patients, peer-counselors, and healthcare providers involved in delivery of the intervention. In qualitative focus groups, we will analyze the implementation context and determine barriers and facilitators for implementation with different stakeholders (patients and/or representatives, peer-counselors, healthcare providers, health insurers). Based on these results, we will derive country-specific implementation strategies and develop a concrete implementation plan for each country. DISCUSSION: The intervention is expected to help patients adjust to their disease and improve their mental quality of life. The transdiagnostic and location-independent program has the potential to reach patients for psychosocial support who are usually hard to reach. By preparing the implementation in five countries, the project can help to make low-threshold psychosocial support available to many patients with rare diseases and improve comprehensive healthcare for an often neglected group. TRIAL REGISTRATION: ISRCTN15030282.

Confidence in treatment is contributing to quality of life in autoimmune liver diseases. The results of ERN RARE-LIVER online survey.

BACKGROUND AND AIMS: Autoimmune liver diseases (AILDs) are associated with impaired health-related quality of life (HrQoL). The aim of this project was to identify potentially modifiable factors related to HrQoL in a large transnational cohort of patients with AILDs. METHODS: A cross-sectional online survey was conducted on patients with autoimmune hepatitis (AIH), primary biliary cholangitis (PBC) or primary sclerosing cholangitis from 15 European countries. HrQoL was measured with EQ-5D-5L and EQ visual analogue scale (EQ-VAS) and analysed in relation to demographic, psychosocial, disease- and treatment-related factors. A Patient Health Questionnaire-2 score >3 indicated relevant depression. Multivariable linear regression analyses were used to identify potentially modifiable factors associated with HrQoL and confidence in treatment whilst adjusting for known confounders. RESULTS: A group of 1178 European patients (79% female, mean age 48 ± 14 years) participated in the study. HrQoL was impaired in all three diseases (mean EQ-5D-5L = 0.75, mean EQ VAS = 68.9), most markedly in PBC (mean EQ-5D-5L = 0.73, mean EQ-VAS = 66.2). Relevant depression, which was detected in 17% of patients, was prominently associated with impaired HrQoL. In the regression analysis, treatment confidence was identified as an important modifiable factor positively contributing to HrQoL. This influence was observable even after adjusting for other covariates including depression. Management in a transplant centre, treatment with azathioprine in AIH, and with ursodeoxycholic acid in PBC, was associated with increased treatment confidence. Finally, improved patient-physician relationships contributed to treatment confidence. CONCLUSION: Treatment confidence is a relevant modifiable determinant of HrQoL and should be further investigated to improve the standards of care for patients with AILDs.

[Psychosocial Support for People with Ulcerative Colitis and Irritable Bowel Syndrome: A Feasibility Study on Need, Focus and Viability]. / Psychosoziale Unterstützung von Menschen mit Colitis ulcerosa und Reizdarmsyndrom: eine Machbarkeitsstudie zu Bedarf, Fokus und Durchführbarkeit.

OBJECTIVES: Ulcerative colitis (UC) and irritable bowel syndrome (IBS) are associated with high somatic symptom burden, reduced quality of life, and increased psychological distress. The subjective burden, the wish of many patients, and the involvement of psychological processes in symptom perception justify the development of psychosocial support services. We aimed to evaluate need, content and feasibility of such an offer. We included patients with both UC and RDS in order to identify disease-specific and trans-diagnostic aspects for psychosocial interventions. METHODS: We conducted telephone interviews with adult patients with UC or IBS using a standardized interview guide. We used numerical rating scales and open-ended questions to assess burden of and coping with the disease, disease-related expectations and anxiety, satisfaction with care, support and information needs, and preferences regarding support programs. We calculated descriptive metrics for quantitative variables as well as diagnosis-specific group comparisons. The answers to the open questions were summarised and counted in close accordance with the participants' statements. RESULTS: N=35 patients (UC: n = 15; IBS: n=20) participated (age: M=40.80, SD=14.56; 71% female). In both groups, patients showed a medium level of disease burden, with higher rates for IBS. Both groups reported disease-related anxiety, with higher levels in patients with IBS. Disease-related expectations did not differ between groups. Patients with IBS showed low satisfaction with care and felt less informed about their disease than patients with UC. Both groups indicated a high motivation of participating in a psychological support program and named illness-related expectations and illness anxiety as important components of such. DISCUSSION: The results confirm an increased need for psychosocial support and the relevance of disease-related expectations and anxiety for both diseases. Differences in symptom perception and care satisfaction indicate the importance of disease-specific elements in psychosocial therapy programs. CONCLUSION: The results demonstrate the high need for psychosocial support of patients with UC and IBS and indicate the feasibility of a psychosocial therapy program.

Somatic symptom disorder: a scoping review on the empirical evidence of a new diagnosis.

BACKGROUND: In 2013, the diagnosis of somatic symptom disorder (SSD) was introduced into the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). This review aims to comprehensively synthesize contemporary evidence related to SSD. METHODS: A scoping review was conducted using PubMed, PsycINFO, and Cochrane Library. The main inclusion criteria were SSD and publication in the English language between 01/2009 and 05/2020. Systematic search terms also included subheadings for the DSM-5 text sections; i.e., diagnostic features, prevalence, development and course, risk and prognostic factors, culture, gender, suicide risk, functional consequences, differential diagnosis, and comorbidity. RESULTS: Eight hundred and eighty-two articles were identified, of which 59 full texts were included for analysis. Empirical evidence supports the reliability, validity, and clinical utility of SSD diagnostic criteria, but the further specification of the psychological SSD B-criteria criteria seems necessary. General population studies using self-report questionnaires reported mean frequencies for SSD of 12.9% [95% confidence interval (CI) 12.5-13.3%], while prevalence studies based on criterion standard interviews are lacking. SSD was associated with increased functional impairment, decreased quality of life, and high comorbidity with anxiety and depressive disorders. Relevant research gaps remain regarding developmental aspects, risk and prognostic factors, suicide risk as well as culture- and gender-associated issues. CONCLUSIONS: Strengths of the SSD diagnosis are its good reliability, validity, and clinical utility, which substantially improved on its predecessors. SSD characterizes a specific patient population that is significantly impaired both physically and psychologically. However, substantial research gaps exist, e.g., regarding SSD prevalence assessed with criterion standard diagnostic interviews.

Acceptance and commitment therapy meets peer-support. Development of a supportive self-care intervention for patients with rare diseases: a multistage development process.

OBJECTIVE: We aimed at developing a patient-centred self-help programme, tailored to the needs of patients with rare chronic diseases. DESIGN: Multistage, multimethod development process including a survey with validated self-report scales and open-ended questions (phase 1) and focus groups (phase 2) for needs assessment and, consolidating the first phases and the literature, the intervention development (phase 3). SETTING: Phase 1: nationwide online survey in Germany, phase 2: four separate and diagnostically homogeneous focus groups. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Target group were patients with rare diseases that occur at a prevalence <1:2000. Phase 1: n=300 participants with different rare diseases. Phase 2: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: The central results of phases 1 and 2 were requests for more information about the disease and contact with other affected persons. Patients also expressed support needs in dealing with difficult emotions and identified acceptance of the disease as a turning point for quality of life. In phase 3, we identified acceptance and commitment therapy (ACT) as a suitable therapeutic approach and determined details about implementation and execution of self-management programmes. A 6-week self-help concept led by peer counsellors was developed, which includes disease-specific information and ACT-based exercises. CONCLUSION: Based on a multistage needs assessment, we developed a peer-guided self-help intervention for patients with rare chronic diseases. Combining self-management, peer-counselling and ACT may help living with a rare condition. Further research needs to test the programme's efficacy. TRIAL REGISTRATION NUMBER: ISRCTN13738704.

Efficacy of a Brief, Peer-Delivered Self-management Intervention for Patients With Rare Chronic Diseases: A Randomized Clinical Trial.

Importance: Patients coping with rare diseases need psychosocial support. Objective: To evaluate the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual (CAU) compared with CAU only. Design, Setting, and Participants: In this 2-group randomized clinical trial conducted from October 5, 2017, to July 12, 2019, patients were recruited via specialized clinics and patient organizations across Germany and participated from home. The study included consecutive adult patients with neurofibromatosis type 1, Marfan syndrome, primary sclerosing cholangitis, and pulmonary arterial hypertension who have limited functionality because of the disease. Exclusion criteria were a life-threatening health status and ongoing psychotherapeutic treatment. Of 143 patients screened for eligibility with a semistructured telephone interview, 54 were excluded, and 89 were randomized: 45 patients were randomly allocated to the peer-delivered intervention group, and 44 to the control group; 87 patients (98%) completed the 6-month follow-up assessment. The analysis was performed using an intention-to-treat principle. Data cleansing and analysis were conducted between April 25, 2019, and February 13, 2020. Interventions: The 6-week intervention consisted of a self-help book and telephone-based peer counseling in addition to CAU. The control group received CAU alone. Peer counselors received training, structured consultation guidelines, and supervision. Main Outcomes and Measures: The primary outcome was acceptance of the disease as assessed using the Illness Cognition Questionnaire (ICQ; mean sum scores range from 0 to 18, with higher values representing more acceptance) 6 months after the intervention. Secondary outcomes included self-reported coping strategies (Health Education Impact Questionnaire), illness cognition (ICQ and Illness Perception Questionnaire), depression severity (Patient Health Questionnaire 9-item depression scale), anxiety severity (Generalized Anxiety Disorder Scale), quality of life (12-Item Short-Form Health Survey), and social support (Social Support Questionnaire). Outcomes were assessed before the intervention, after the intervention, and at a 6-month follow-up. Results: The mean (SD) age of the 89 participating patients was 46.3 (14.9) years; 59 (66%) were women. There were no group differences regarding baseline variables. All patients allocated to the intervention group completed the intervention. Six months after the intervention, but not directly after completing the program, the intervention group had significantly higher rates of acceptance (ICQ) of the disease (primary outcome) compared with the CAU group. Mean (SD) baseline ICQ scores were 9.61 (3.79) in the control group and 9.86 (3.40) in the intervention group. Mean (SE) ICQ scores at 6 months were 10.32 (0.42) for the control group and 11.79 (0.42) for the intervention group, with a significant mean difference of -1.47 (95% CI, -2.63 to -0.31; P = .01). Several secondary outcomes, including different coping strategies, social support, and mental quality of life, were significantly higher after the intervention compared with the control group. Conclusions and Relevance: In this randomized clinical trial, a self-help and peer counseling intervention improved patients' acceptance of their rare chronic diseases. Self-management and peer support can efficiently address the unique care needs of patients with rare diseases. Trial Registration: isrctn.org Identifier: ISRCTN13738704.

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study.

BACKGROUND: In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to assess supportive care needs in patients with chronic rare diseases. METHODS: Cross-sectional mixed-method study was conducted using validated self-report scales and open-ended questions to assess supportive care needs. Participants affected by rare diseases across Germany were contacted via patient organizations and centers for rare diseases. N = 304 participants with 81 different rare diseases completed the study, 81.6% were female, mean age was 44.2 years (SD = 12.8, range 16-74). The quantitative results regarding supportive care needs were compared to a reference population of patients affected by cancer (N = 888). Main outcomes were unmet supportive care needs of patients with rare diseases, as assessed by the Supportive Care Needs Survey (SNCS-SF34) and an open-ended question on support wishes. RESULTS: Patients with rare diseases did not feel sufficiently supported with regard to psychological support, health system and information, physical and daily living, patient care and support, and sexuality needs. The unmet supportive care needs were significantly higher in the patient sample with rare diseases compared to the SCNS-SF34 reference sample of patients with cancer. 60% of patients with rare diseases did not feel sufficiently socially supported. CONCLUSIONS: Patients affected by rare diseases have high unmet support needs in all areas studied. Multidisciplinary care, including psychological support and the provision of information regarding the healthcare system, treatment options, disease course and sexuality, might help address these needs.

Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study.

OBJECTIVE: Empirical evidence on depression and anxiety in patients with rare diseases is scarce but can help improve comprehensive treatment. The objectives of this study were to investigate the frequency of depression and anxiety in this heterogeneous population and to examine aspects associated with increased psychopathology. METHODS: N = 300 patients with 79 different rare diseases (female:80%, age:M = 44.3(12.8), range:16-74 years) participated in a cross-sectional online study. We determined the percentages of patients reporting elevated depression (PHQ-9) and anxiety (GAD-7) scores. We calculated two linear regressions with depression and anxiety as outcomes. Predictor variables were diagnosis-related aspects (diagnosis assigned to ICD-10 chapter, visibility of symptoms, time since diagnosis, comorbid diseases), perceived somatic-symptom-severity (PHQ-15), illness-perceptions (consequences, control, identity, concern, understanding and treatment control; B-IPQ-R), coping mechanisms (constructive attitudes, active engagement in life) and social support (heiQ). We controlled for gender, age and depression or anxiety depending on the outcome. RESULTS: 42% of the patients (95%CI [36.41%,47.59%]) reported depression scores indicating moderately or severely elevated symptom levels. Regarding anxiety, this applies to 23% (95%CI [18.54%,28.06%]). Variables significantly associated with depression were higher perceived somatic-symptom-severity (B = 0.41,p < .001), less control (B = .17,p < .05), lower levels of concern (B = -0.32,p < .01) and less constructive attitudes (B = -1.40,p < .001). No diagnosis-related variables were associated with depression. Variables significantly associated with anxiety were diseases of the circulatory system compared to congenital malformations (B = 1.88,p < .05), less consequences (B = -0.32,p < .05) and more concern (B = -0.32,p < .01). CONCLUSION: The data reveal first insights into depression and anxiety in patients with different rare diseases. High percentages of patients showed clinically relevant symptom burden. No diagnosis-related differences were found in depression while anxiety seems to be particularly frequent in patients with rare diseases of the circulatory system. Besides perceived somatic symptom severity, cognitive appraisal seems to be linked to depression. Supporting patients in coping with their disease may help reduce psychopathology and therefore improve overall health.

Perceived burden in dealing with different rare diseases: a qualitative focus group study.

OBJECTIVES: There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions. DESIGN: A qualitative focus group study. SETTING: In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge). CONCLUSIONS: Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.

Preventing eating disorders with an interactive gender-adapted intervention program in schools: study protocol of a randomized controlled trial.

BACKGROUND: There are a high number of adolescents who are at risk of developing an eating disorder. There is, therefore, a strong need to implement prevention programs aimed at reducing the incidence of eating disorders at this critical age. Among other factors, successful prevention programs have been shown to be interactive, carried out by professionals, focused on educational as well as psychosocial elements and have taken risk factors as well as resources into account. The objective of this study protocol is to present the design of a new prevention program for eating disorders in schools. METHODS/DESIGN: The gender-adapted prevention program extends over six school hours. It contains interactive and educational elements about eating disorders and their treatment. Participants pass through different exercises and reflect on the influences of the media, self-esteem, body perception and individual resources. A cluster-randomized controlled trial is chosen to evaluate the program. Based on an estimated effect size of d = 0.3 a total of 1848 participants are enrolled in the study. Eating disorder risk, internalization of Western beauty ideals, body dissatisfaction, self-concept as well as anxiety and symptoms of depression are measured before and immediately after the intervention as well as at a six-month follow-up. In addition, the intervention group evaluates the different components of the program. DISCUSSION: The study intends to test the practicability and efficacy of an interactive, gender-adapted ED prevention program in schools. Moreover, it will provide valuable information about the occurrence of eating disorder risk factors in school-aged children. TRIAL REGISTRATION: ISRCTN97989348; Registered 19 December 2012.

Decreasing the duration of untreated illness for individuals with anorexia nervosa: study protocol of the evaluation of a systemic public health intervention at community level.

BACKGROUND: Anorexia nervosa (AN) is a mental disorder with grave burdens for affected individuals as well as for the healthcare system. One of the strongest predictors of a poor outcome is a long Duration of Untreated Illness (DUI), which is defined as the time between the onset of the disease and treatment initiation. Reducing the DUI is an important step to optimize care of individuals with AN. In order to achieve this aim, systemic public health interventions are necessary. Objective of this study is to evaluate a systemic public health intervention at Community level aiming to reduce the DUI in individuals with AN. METHODS/DESIGN: The intervention includes the establishment of a network of health care professionals within the area of eating disorders (EDs), the development of an internet-based treatment guide, the presentation of informative short-films about EDs in cinemas and a corresponding poster campaign as well as a special outpatient clinic. For the evaluating study a pre-post between-subject design is chosen. The DUI, and the duration until first contact (DUC) with a health care professional, ED pathology as well as comorbidity are assessed before and after the systemic intervention is carried out. DISCUSSION: The study attempts to provide evidence of the effectiveness of an ED-related systematic public health intervention. Additionally, the study will lead to a better understanding of the DUI, which is essential in order to improve care of individuals with AN. TRIAL REGISTRATION: Current Controlled Trials ISRCTN44979231 ; Registered 11 November 2011.