ObjectivesThere 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.DesignA qualitative focus group study.SettingIn 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.ParticipantsIndividuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5).ResultsWe 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).ConclusionsDespite 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.

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.

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.

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.

IMPORTANCEPatients 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 PARTICIPANTSIn 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. INTERVENTIONSThe 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 MEASURESThe 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. RESULTSThe 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 d...

BackgroundAnorexia 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/designThe 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.DiscussionThe 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 registrationCurrent Controlled Trials ISRCTN44979231; Registered 11 November 2011.

BackgroundThere 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/DesignThe 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.DiscussionThe 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 registrationISRCTN97989348; Registered 19 December 2012.

We aimed to identify the prevalence of affective and anxiety disorders across different rare disease and identify correlates of psychopathology. We performed a systematic review and meta-analysis. We systematically searched Medline, PSYNDEX, PsycINFO for observational studies examining clinically diagnosed affective and/or anxiety disorders in adults with rare chronic diseases. Two researchers reviewed titles and abstracts independently and, for eligible studies, independently extracted data. The prevalence rates were pooled using a random intercept logistic regression model. We published a review protocol (http://www.crd.york.ac.uk/PROSPERO/display_record.php?ID=CRD42018106614CRD42018106614). We identified and screened 34 402 records for eligibility and considered 39 studies in the qualitative and 37 studies in the quantitative analysis, including N = 5951 patients with 24 different rare diseases. Heterogeneity between studies was large. Prevalence rates ranged widely between studies, with pooled prevalence estimates of 13.1% (95% CI 9.6–17.7%; I2 = 87%, p < 0.001) for current and 39.3% (95% CI 31.7–47.4%; I2 = 84%, p < 0.001) for lifetime major depressive disorder, 21.2% (95% CI 15.4–28.6%; I2 = 90%, p < 0.001) for current and 46.1% (95% CI 35.8–56.8%; I2 = 90%, p < 0.001) for lifetime affective disorders, and 39.6% (95% CI 25.5–55.6%; I2 = 96%, p < 0.001) for current and 44.2% (95% CI 27.0–62.9%; I2 = 94%, p < 0.001) for lifetime anxiety disorders. Sensitivity analyses excluding studies of low quality revealed nearly the same results. We conducted the first systematic review examining affective and anxiety disorders in adults with different rare diseases and found high prevalence rates. Supporting patients in disease adjustment can be crucial for their overall health and well-being.