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BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motoneuron. It is associated with a life expectancy of 2-4 years after diagnosis. Individuals experience paralysis, dysphagia, respiratory failure and loss of communicative function, rendering advance care planning (ACP) critically important. This systematic review primarily aimed to internationally compare the application of advance directives (AD) and ACP in ALS. Its secondary aim was to identify ACP preferences, identify fields for future research and to generate recommendations for improving patient care through ACP. METHODS: We conducted a systematic literature review and meta-analysis. Five electronic databases (Embase, Medline, Scopus, PsycInfo and CENTRAL) were searched for qualitative and quantitative primary literature from 1999 to 2024. Cross-references were used to identify additional publications. Study selection was performed based on inclusion criteria. Number and content of AD were extracted systematically. After statistical analysis consecutive meta-analysis was performed for international differences and changes over time. Quality assessment of studies was performed using the MMAT (Mixed Methods Appraisal Tool). PROSPERO Registration (June 07, 2021) : CRD42021248040. RESULTS: A total of 998 records was screened of which 26 were included in the synthesis. An increase in publication numbers of 88.9% was observed from 1999 to 2024. Results regarding use and content of AD were heterogeneous and international differences were detected. AD were signed in 60.4% of records (1,629 / 2,696 patients). The number of AD decreased over time when separating the review period in two decades (1st 1999-2011: 78% vs. 2nd 2012-2024: 42%). Study quality was superior in qualitative and mixed method designs compared to quantitative studies. CONCLUSION: Further prospective studies should include detailed analyses on preferences regarding ventilation and artificial nutrition in ALS and should encompass countries of the global south. Despite the complexity of ACP with regard to individual patient needs, ACP should be part of each individual support plan for ALS patients and should specifically comprise a discussion on the preferred place of death. The available disease-specific AD documents should be preferred.
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Directivas Anticipadas , Esclerosis Amiotrófica Lateral , Esclerosis Amiotrófica Lateral/psicología , Esclerosis Amiotrófica Lateral/terapia , Esclerosis Amiotrófica Lateral/complicaciones , Humanos , Directivas Anticipadas/estadística & datos numéricos , Directivas Anticipadas/psicología , Planificación Anticipada de Atención/estadística & datos numéricos , Planificación Anticipada de Atención/normasRESUMEN
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a novel diagnostic concept based on multidisciplinary expertise in Germany. Here we present the systematic investigation of the phenotypic and molecular genetic data of 1,577 patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches. Molecular genetic diagnoses were established in 32% of the patients totaling 370 distinct molecular genetic causes, most with prevalence below 1:50,000. During the diagnostic process, 34 novel and 23 candidate genotype-phenotype associations were identified, mainly in individuals with neurodevelopmental disorders. Sequencing data of the subcohort that consented to computer-assisted analysis of their facial images with GestaltMatcher could be prioritized more efficiently compared with approaches based solely on clinical features and molecular scores. Our study demonstrates the synergy of using next-generation sequencing and phenotyping for diagnosing ultrarare diseases in routine healthcare and discovering novel etiologies by multidisciplinary teams.
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Secuenciación de Nucleótidos de Alto Rendimiento , Fenotipo , Humanos , Femenino , Masculino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Niño , Alemania , Secuenciación del Exoma/métodos , Adolescente , Estudios de Asociación Genética/métodos , Pruebas Genéticas/métodos , Preescolar , Estudios Prospectivos , Adulto , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/diagnóstico , Lactante , Adulto JovenRESUMEN
BACKGROUND: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. METHODS: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. RESULTS: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy. CONCLUSIONS: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.
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Enfermedades del Sistema Nervioso , Neurología , Niño , Humanos , Enfermedades Raras/terapia , Atención a la Salud , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/terapia , ConsensoRESUMEN
BACKGROUND: Rare diseases are often recognized late. Their diagnosis is particularly challenging due to the diversity, complexity and heterogeneity of clinical symptoms. Computer-aided diagnostic aids, often referred to as diagnostic decision support systems (DDSS), are promising tools for shortening the time to diagnosis. Despite initial positive evaluations, DDSS are not yet widely used, partly due to a lack of integration with existing clinical or practice information systems. OBJECTIVE: This article provides an insight into currently existing diagnostic support systems that function without access to electronic patient records and only require information that is easily obtainable. MATERIALS AND METHODS: A systematic literature search identified eight articles on DDSS that can assist in the diagnosis of rare diseases with no need for access to electronic patient records or other information systems in practices and hospitals. The main advantages and disadvantages of the identified rare disease diagnostic support systems were extracted and summarized. RESULTS: Symptom checkers and DDSS based on portrait photos and pain drawings already exist. The degree of maturity of these applications varies. CONCLUSION: DDSS currently still face a number of challenges, such as concerns about data protection and accuracy, and acceptance and awareness continue to be rather low. On the other hand, there is great potential for faster diagnosis, especially for rare diseases, which are easily overlooked due to their large number and the low awareness of them. The use of DDSS should therefore be carefully considered by doctors on a case-by-case basis.
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Inteligencia Artificial , Sistemas de Apoyo a Decisiones Clínicas , Enfermedades Raras , HumanosRESUMEN
BACKGROUND: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition. OBJECTIVES: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background. MATERIAL AND METHODS: A selective literature search was performed to highlight the current state of research on pain management in EDS patients. RESULTS: Affected patients require multimodal pain management considering their individual needs, disease-specific features, and comorbidities. CONCLUSION: Medical awareness and evidence need to be further improved to enhance the medical care situation of these patients with complex needs.
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Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Humanos , Inestabilidad de la Articulación/diagnóstico , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Dolor , Comorbilidad , Manejo del DolorRESUMEN
BACKGROUND: Neuropathic pain is difficult to diagnose and treat. Small fiber neuropathy (SFN) flies under the radar of nerve conduction studies. OBJECTIVES: The importance of a structured patient history and physical examination in the context of neuropathic pain is emphasized. Describing SFN as an important cause, the authors consider rare but partially treatable differential diagnoses. They conclude that autonomic symptoms are frequently associated, often presenting with diverse symptoms. METHODS: A selective literature research to present SFN symptoms as well as differential diagnostic and therapeutic steps in the context of SFN and rare diseases focusing on the autonomic nervous system. RESULTS: Neuropathic pain significantly reduces quality of life. To shorten the time until diagnosis and to initiate therapy, the authors recommend a structured patient history including sensory plus and minus symptoms and non-specific autonomic signs. If the initial search for the cause is not successful, rare causes such as treatable transthyretin (ATTR) amyloidosis and Fabry's disease or autoimmune causes should be considered, particularly in the case of progressive and/or autonomic symptoms. CONCLUSION: The diagnosis and therapy of rare SFN requires interdisciplinary collaboration and, in many cases, a referral to specialized centers to achieve the best patient care.
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Neuralgia , Neuropatía de Fibras Pequeñas , Humanos , Neuropatía de Fibras Pequeñas/diagnóstico , Neuropatía de Fibras Pequeñas/terapia , Calidad de Vida , Enfermedades Raras/complicaciones , Neuralgia/diagnóstico , Neuralgia/etiología , Neuralgia/terapia , Sistema Nervioso AutónomoRESUMEN
PURPOSE: Adult idiopathic condylar resorption (AICR) mainly affects young women, but generally accepted diagnostic standards are lacking. Patients often need temporomandibular joint (TMJ) surgery, and often jaw anatomy is assessed by CT as well as MRI to observe both bone and soft tissue. This study aims to establish reference values for mandible dimensions in women from MRI only and correlate them to, e.g., laboratory parameters and lifestyle, to explore new putative parameters relevant in AICR. MRI-derived reference values could reduce preoperative effort by allowing physicians to rely on only the MRI without additional CT scan. METHODS: We analyzed MRI data from a previous study (LIFE-Adult-Study, Leipzig, Germany) of 158 female participants aged 15-40 years (as AICR typically affects young women). The MR images were segmented, and standardized measuring of the mandibles was established. We correlated morphological features of the mandible with a large variety of other parameters documented in the LIFE-Adult study. RESULTS: We established new reference values for mandible morphology in MRI, which are consistent with previous CT-based studies. Our results allow assessment of both mandible and soft tissue without radiation exposure. Correlations with BMI, lifestyle, or laboratory parameters could not be observed. Of note, correlation between SNB angle, a parameter often used for AICR assessment, and condylar volume, was also not observed, opening up the question if these parameters behave differently in AICR patients. CONCLUSION: These efforts constitute a first step towards establishing MRI as a viable method for condylar resorption assessment.
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Mandíbula , Cóndilo Mandibular , Adulto , Humanos , Femenino , Cóndilo Mandibular/diagnóstico por imagen , Cóndilo Mandibular/cirugía , Valores de Referencia , Mandíbula/diagnóstico por imagen , Articulación Temporomandibular/cirugía , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic celiac artery decompression. However, surgical success rates vary widely between patients, therefore adequate selection of patients is essential to improve surgical outcome. Symptoms of MALS might also overlap with other chronic multi-system disorders such as mast cell activation syndrome (MCAS). So far, no clinical or radiological parameter was found to be predictive of the postoperative outcome. We, therefore, aim to study preclinical parameters in one of the largest MALS cohorts with the focus to identify patients that would benefit from surgical MAL release. RESULTS: By analyzing 20 MALS patients that underwent surgical celiac artery decompression, we found 60% of patients (12/20) had a postoperative relief of their symptoms and a simultaneous decrease of analgetic use. No demographic, radiologic or operative parameter was able to predict postoperative symptom relief. However, mast cell activation syndrome correlated significantly (p = 0.04) with persistent symptoms after the operation. CONCLUSIONS: Overall, laparoscopic MAL release can provide immediate symptomatic relief. Despite the missing predictive value of demographic and imaging data, our data show a correlation between persistent symptoms and a co-existing mast cell activation syndrome. This suggests that MCAS symptoms might be interpreted as MALS symptoms in the presence of celiac artery stenosis and therefore surgical treatment should be evaluated carefully. Overall, the selection of patients who are most likely to respond to surgical MAL release may best be accomplished by an interdisciplinary team of gastroenterologists, radiologists and surgeons.
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Síndrome de Activación de Mastocitos , Síndrome del Ligamento Arcuato Medio , Humanos , Síndrome del Ligamento Arcuato Medio/cirugía , Síndrome del Ligamento Arcuato Medio/complicaciones , Síndrome del Ligamento Arcuato Medio/diagnóstico , Arteria Celíaca/cirugía , Pronóstico , DescompresiónRESUMEN
Objectives: Fatigue is a frequent and burdensome symptom in patients with advanced disease in palliative care. However, it is under-assessed and undertreated in clinical practice, even though many treatment options have been identified in systematic reviews. Care pathways with defined and standardised steps have been recommended for effective management in the clinical setting. This paper describes a care pathway for managing fatigue in palliative care patients. This study aims to develop a care pathway with detailed guidance for screening, assessment, diagnosis, and treatment of fatigue in palliative care patients. Material and methods: A collaborative effort of multidisciplinary clinicians participated in constructing the care pathway. The care pathway was developed using the following steps: (a) Developing an intervention; (b) piloting and feasibility; (c) evaluating the intervention; (d) reporting; and (e) implementation. This paper covers the first step, which includes the evidence base identification, theory identification/development, and process/outcomes modeling. A literature search was conducted to understand the extent of the fatigue problem in the palliative care setting and identify existing guidelines and strategies for managing fatigue. Consistent recommendations emanating from the included papers were then contributed to a care pathway. Patient representatives and palliative care professionals provided feedback on the draft. Results: The care pathway address the following care processes: (1) Screening for the presence of fatigue; (2) assessment to evaluate the severity of fatigue; (3) diagnostic procedure, including history, physical examination, and laboratory finding; (4) therapeutic management pathway for clinical decision-making; and (5) valuation of treatment effect, using questionnaires, diaries and physical activity monitoring with body-worn sensors. Conclusion: The development of a care pathway will help to implement regular and structured assessment, diagnosis, and treatment of fatigue for healthcare professionals treating palliative care patients. Reviewing the pathway with a multidisciplinary expert group and field testing the pathway will be the next steps toward implementation.
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RATIONAL/AIMS AND OBJECTIVES: Ward rounds are a core routine for interprofessional communication and clinical care planning: Health care professionals and patients meet regularly and it encourages patients to actively participate. In paediatric oncology, the long treatment process, the serious diagnosis, and involvement of both patients and their parents in shared-decision-making require specific ward round skills. Despite its high value for patient-centred care, a universal definition of ward round is lacking. Little is known about attitudes and expectations of different participants towards a 'good' ward round. This study aims to capture experiences and expectations of different stakeholders to better understand ward round needs in paediatric oncology and serve as a basis to improve future ward rounds. METHOD: Semi-structured interviews were conducted with patients, parents, nurses and medical doctors of a paediatric oncology ward until theoretical saturation (13 interviews). A standardised qualitative analysis using the phenomenological framework defined by Colaizzi was used to identify important aspects in the interviews. RESULTS: Three major themes were identified in the interviews: [1] Structure and Organisation; [2] Communication; [3] Education. Further analysis revealed 23 categories and elucidated several opportunities and unmet needs recognized by stakeholders: Ward round functions in comforting families in stressful situations, and relationship building. Interviewees expressed their concerns about missing structures. Families pleaded for smaller ward round teams and layperson language. Health care professionals underscored the lack of ward round training. Paediatric patients stated that ward round scared them without proper explanation. All interviewees emphasized the need for professionalization of the ward round in the setting of paediatric oncology. CONCLUSION: This study gives important insights into ward round functions and organisational requirements. It addresses special challenges for ward round participants in paediatric oncology, such as consideration of the emotional aspect of cancer treatment or the limits of shared decision making. Furthermore, this study underscores the great significance of ward rounds in paediatric oncology, with an emphasis on communication and relationship-building. Although performed universally, ward rounds are poorly explored or evaluated. This structured analysis synthesizes important expectations of different WR stakeholders, revealing opportunities of improvement and stressing the need for guidelines, training, and preparation.
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Neoplasias , Rondas de Enseñanza , Humanos , Niño , Investigación Cualitativa , Comunicación , Pacientes , Neoplasias/terapiaRESUMEN
BACKGROUND: Mast cell activation syndrome (MCAS) is a clinically heterogeneous disease with allergy-like symptoms and abdominal complaints. Its etiology is only partially understood and it is often overlooked. AIMS: The aim of this study was to identify subgroups of MCAS patients to facilitate diagnosis and allow a personalized therapy. METHODS: Based on data from 250 MCAS patients, hierarchical and two-step cluster analyses as well as association analyses were performed. The data used included data from a MCAS checklist asking about symptoms and triggers and a set of diagnostically relevant laboratory parameters. RESULTS: Using a two-step cluster analysis, MCAS patients could be divided into three clusters. Physical trigger factors were particularly decisive for the classification as they showed remarkable differences between the three clusters. Cluster 1, labeled high responders, showed high values for the triggers heat and cold, whereas cluster 2, labeled intermediate responders, presented with high values for the trigger heat and low values for cold. The third cluster, labeled low responders, did not react to thermal triggers. The first two clusters showed more divers clinical symptoms especially with regard to dermatological and cardiological complaints. Subsequent association analyses revealed relationships between triggers and clinical complaints: Abdominal discomfort is mainly triggered by histamine consumption, dermatological discomfort by exercise, and neurological symptoms are related to physical exertion and periods of starvation. The reasons for the occurrence of cardiological complaints are manifold and triggers for respiratory complaints still need better identification. CONCLUSION: Our study identified three distinct clusters on the basis of physical triggers, which also differ significantly in their clinical symptoms. A trigger-related classification can be helpful in clinical practice for diagnosis and therapy. Longitudinal studies should be conducted to further understand the relationship between triggers and symptoms.
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Síndrome de Activación de Mastocitos , Mastocitosis , Humanos , Mastocitosis/diagnóstico , Calor , Histamina/uso terapéutico , MastocitosRESUMEN
AIMS AND OBJECTIVES: Providing the first meta-analysis of risk factors for pressure ulcer development in adult patients. BACKGROUND: Pressure ulcers remain a serious health complication for patients and nursing staff. However, there is a lack of statistical evidence for risk factors as previous research did not include any quantitative synthesis. DESIGN: Meta-analysis, using PRISMA guidelines. METHODS: Studies from PubMed, Embase, CINAHL Complete, Web of Science, Cochrane Library, and other reviews and sources were screened and checked against the inclusion criteria. The risk of bias was evaluated using a slightly modified QUIPS tool. Data regarding population, design, statistical analysis and risk factors were extracted. Meta-analysis with comparable studies was conducted for age, sex, and Braden scale. The sub-group analysis was used to account for heterogeneity. RESULTS: 28 studies with 570,162 patients were entered in meta-analysis. Older age and a low total Braden scale score increased the risk for pressure ulcers. All subscales excluding 'moisture' reached significance in meta-analysis based only on few studies, however, limiting overall evidence. Male sex achieved mixed results, too. CONCLUSION: The first meta-analytic analysis shows evidence for age and Braden scale as risk factors for pressure ulcer development. Limitations regarding study quality and heterogeneity must be considered, highlighting the need for unifying certain conditions in risk factor research. RELEVANCE TO CLINICAL PRACTICE: Patients at risk for new pressure ulcers can be identified by their total Braden score and age, whereas the latter is also connected to deeper pressure ulcers. Nurses and health personnel should pay great attention to patients in older age and undergo specific training to utilise and evaluate the Braden scale effectively, if necessary.
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Personal de Enfermería , Úlcera por Presión , Humanos , Adulto , Masculino , Úlcera por Presión/epidemiología , Úlcera por Presión/etiología , Factores Sociodemográficos , Factores de Riesgo , Medición de Riesgo/métodosRESUMEN
BACKGROUND: Laboratory evidence supporting diagnosis of the prevalent condition of mast cell activation syndrome (MCAS) currently includes elevated levels in blood or urine of mediators relatively specific to mast cells (MCs) and/or increased numbers of MCs in luminal gastrointestinal (GI) tract tissues. However, identification of elevated mediators is technically challenging and expensive, and controversy persists regarding the normal ranges of numbers/counts of MCs in various GI tract segments, let alone challenges in determining how many of the visualized MCs are activated. To aid diagnosis of MCAS, we developed a potential new approach for the pathologist to identify the extent of GI tract MC activation easily and inexpensively. PARTICIPANTS AND METHODS: Visualization of MCs in gastrointestinal biopsies from 251 patients vs. 95 controls using antibodies against CD117 and tryptase; MC counting per mm2; calculation of the difference between the CD117-positive MCs (identifying all MCs) vs. tryptase-positive MCs (identifying non-activated tryptase-containing MCs), which we define as the tryptase depletion index (TDI). RESULTS: Mean total MC counts did not differ significantly between patients and controls, but mean TDIs differed significantly. Non-overlapping confidence intervals at the 99.9% level identified cut-offs of TDIs between patients vs. controls of 26, 45 and 32 MCs/mm2 in gastric antrum, duodenum, and colon, respectively. CONCLUSIONS: The TDI may discriminate between MCAS patients vs. controls. If this preliminary work can be independently confirmed, the TDI may become a useful additional minor diagnostic criterion for MCAS.
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Síndrome de Activación de Mastocitos , Humanos , Triptasas , Mastocitos/patología , Biopsia , DuodenoRESUMEN
BACKGROUND: The present study aimed to assess the postoperative pain experience in cognitive deficit patients with special reference to sensory or affective pain quality. METHODS: Nineteen patients with normal cognition up to cognitive impairments according to the DemTect screening-tool were studied regarding their postoperative pain experience after proximal femur fracture. The numerical rating scale (NRS), the cognitive DemTect questionnaire, the pain sensation questionnaire (SES), and a quantitative sensory test (QST) were used as examination instruments. RESULTS: The mean⯱ SD age of the patients was 83.8⯱ 10.0 years. Of the 19 patients, 6 (31.6%) had normal cognitive abilities. In 4 patients (21.1%) there were indications of mild cognitive impairments, and in 9 patients (47.4%) the suspicions of the presence of dementia arose. The mean postoperative pain intensity (NRS) was 4.0 (1.6). With comparable analgesic therapy, the reported pain intensities did not differ between the three patient groups with different cognitive impairments and the first three postoperative treatment days. There were no statistically significant differences between the groups for the sensory or affective total scores of the pain sensation scale. The QST parameters deep pain (PPT), superficial mechanical pain after needle stimulation (MPT), and the superficial sensitivity to light touch stimuli (MDT) showed a significantly increased sensitivity of the operated side. For the sensation of vibration (VDT) no differences between operated and healthy extremities could be proven. DISCUSSION: The postoperative pain experience does not differ between patients with normal and limited cognition. The quantitative sensory testing showed mechanical hyperalgesia in the operated area. The study points to the importance of adequate postoperative pain management even in those with dementia.
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Demencia , Fracturas Femorales Proximales , Humanos , Anciano , Anciano de 80 o más Años , Umbral del Dolor , Dimensión del Dolor , Dolor Postoperatorio/diagnóstico , Dolor Postoperatorio/tratamiento farmacológicoRESUMEN
BACKGROUND: Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is a clinically similar, but more prevalent disease with unclear etiology. In this study, the health-related quality of life (HRQOL) and health literacy of people suffering from SM and MCAS were assessed. RESULTS: Two validated questionnaires (QLQ-C30/QLQ-INFO25) from the European Organisation for Research and Treatment of Cancer (EORTC) were used to analyze HRQOL and level of information of SM and MCAS patients. In addition, a control group without any health issues was included. Data were analyzed by ANOVA and linear regression to detect significant differences. Questionnaire data from 66 patients with MCAS (83% female, mean 44 years), 32 patients with SM (78% female, mean 53 years) and 52 healthy participants (67% female, mean 48 years) resident in Germany were analyzed. HRQOL as measured by the Global health status was significantly worse in patients suffering from MCAS or SM compared to control group. Individuals with MCAS showed a slightly, but insignificantly lower score on Global health status, and a significantly lower score with respect to role function and fatigue. Patients with the rare disease SM felt significantly better informed on their disease compared to MCAS patients. Linear regression performed separately for both groups showed a direct influence of the level of information on patients' HRQOL. CONCLUSION: Overall, our study showed a significant negative impact on the HRQOL of both diseases, but only a small difference in quality of life and severity of symptoms between patients with MCAS and the supposedly more severe form, the rare disease SM. Our results demonstrate that the level of information patients receive impacts HRQOL, and that this is not only an issue in rare diseases, but also diseases with unclear etiology and pathology. Our data shows that even slight improvements in the patient's level of information can have a positive effect on their quality of life, further highlighting the importance of gaining more knowledge on rare and incompletely understood diseases and communicating these insights to patients.
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Alfabetización en Salud , Síndrome de Activación de Mastocitos , Mastocitosis Sistémica , Mastocitosis , Femenino , Humanos , Masculino , Mastocitosis Sistémica/diagnóstico , Calidad de Vida , Enfermedades RarasRESUMEN
Individuals with social anxiety disorder (SAD) often suffer from comorbid major depressive disorder (MDD), which goes along with increased clinical and functional impairment. There has been little research on underlying differences regarding childhood adversities and attachment styles between individuals with SAD with and without comorbid MDD. In the present study, the consecutive sample comprised 612 SCID-diagnosed participants. Of these, n = 472 (62.3% women, 40.7 ± 13.8 years) showed SAD and comorbid MDD (SAD-MDD group) and n = 140 (47.9% women, 43.7 ± 14.7 years) showed just SAD (SAD group). The two groups were compared regarding SAD symptom severity (Social Phobia Inventory; SPIN), childhood adversities (Adverse Childhood Experience Questionnaire; ACE) and attachment styles (Attachment Style Questionnaire, ASQ). The SAD-MDD group reported significantly more severe SAD symptoms (p = .002, d = 0.30), more childhood adversities (p < .001, d = 0.35) and a higher level of fearful attachment style (p < .001, d = 0.30). Group significantly moderated the association between fearful attachment style and SAD symptom severity (ß = .292, p < .05) but not between preoccupied attachment style and SAD symptom severity (ß = -.184, p = .124; R2adj = .168, p < .05). Fearful attachment style mediated the association between childhood adversities and SAD symptom severity in the SAD-MDD group. Our study could identify a specific significance of fearful attachment style for the association between negative childhood experiences and social anxiety symptoms in SAD-MDD. Findings have specific implications for the therapeutic relationship.