Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research

Background Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas. Methods We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used). Results This review included 215 articles on ten different rare developmental defects/anomalies during embryogenesis and 35 rare genetic diseases. Of the 215 articles, 82 had investigation of experienced fatigue as primary aim or outcome. Included were 9 secondary research articles (reviews) and 206 primary research articles. A minority of articles included children. There were large differences in the number of studies in different diseases. Only 29 of 215 articles gave a description of how they defined the concept of experienced fatigue. The most common research-question reported on was prevalence and/ -or associations to fatigue. The least common was diagnostics (development or validation of fatigue assessment methods for a specific patient group). A large variety of methods were used to investigate experienced fatigue, impeding comparisons both within and across diagnoses. Conclusion This scoping review on the characteristics of fatigue research in rare diseases found a large variety of research on experienced fatigue. However, the minority of studies had investigation of experienced fatigue as a primary aim. There was large variation in how experienced fatigue was defined and also in how it was measured, both within and across diagnoses. More research on experienced fatigue is needed, both in children and adults with rare diseases. This review offers a basis for further research.

Vertaistoiminnan muodot ja merkitys päihde- ja mielenterveysjärjestöissä

Artikkelissa tarkastellaan vertaistoimintaa päihde- ja mielenterveysjärjestöissä. Tutkimusaineisto koostuu kahdesta kyselystä. Ensimmäisessä kartoitettiin paikallisten päihde- ja mielenterveysyhdistysten (n=187) ja valtakunnallisten järjestöjen (n=28) johtajien käsityksiä vertaisuuden merkityksestä niiden toiminnassa sekä niissä tuotettavia vertaistoiminnan muotoja. Täydentävää aineistoa kerättiin järjestöjen työntekijöille (n=61) ja vertaisille (n=75) kohdistetulla kyselyllä, jossa tarkasteltiin vertaistoiminnan merkitystä, siihen liittyviä tehtäviä, vertaisten roolia ja asemaa sekä heihin kohdistuvia tukitoimenpiteitä ja tuen tarvetta.Vertaistoiminnalla oli keskeinen merkitys päihde- ja mielenterveysjärjestökentällä. Sen painoarvo kuitenkin vaihteli. Vertaistoiminnan merkitys oli suurempi ja siihen liittyviä toimintamuotoja oli enemmän suurilla toiminta-alueilla toimivissa yhdistyksissä. Sen painoarvo korostui etenkin ennen vuotta 1986 perustetuissa yhdistyksissä.Vertaisten rooli ja tehtävät hahmottuivat hieman eri tavoin työntekijöiden ja vertaisten itsensä näkökulmasta.Työntekijät korostivat vertaisten roolia järjestöjen asiakastyössä ja konkreettisessa auttamis- ja tukitoiminnassa, kun taas vertaiset itse näkivät roolinsa laajemmin myös järjestön ulkosuhteissa ja yhteiskunnallisina vaikuttajina. Aineiston vertaisista kolmannes oli kokenut uupumusta tai väsymystä toimiessaan vertaisena. Järjestöissä on tärkeää taata sekä vertaisten oman orientaation huomioiminen toiminnan suunnittelussa ja kehittämisessä että tarvittavat resurssit vertaisten tukemiseen. AbstractThe forms and importance of peer support in substance abuse and mental health organizations The study examines peer support in substance abuse and mental health organizations. The study is based on two sets of data. Information on the importance and forms of peer support provided was collected by a questionnaire sent to local (n=187) and national (n=28) non-governmental organizations in the fields of substance abuse and mental health, addressed to the CEO or chairman of the board. Supplementary data on the roles and tasks of peers as well as their need for support in their own work was collected by a questionnaire sent to the personnel (n=61) and peers (n=75) in these organizations. Peer support had a central role in both substance abuse and mental health organizations but it differed in different kinds of organizations. Peer support had a stronger emphasis and was more common in organizations operating in larger cities. Also, organizations founded especially before year 1986 had a stronger element of peer support in them compared to younger organizations. The peers’ roles and tasks were perceived somewhat differently by the personnel and the peers themselves. The personnel emphasized the peers’ role in the organization’s customer work and practical help and support related tasks, whereas the peers themselves perceived their role more broadly, including in the organizations’ external relations and in advocacy work. Every third of the peers who answered the questionnaire had experienced fatigue or exhaustion in their work as a peer. The results highlight the need to consider the peer workers’ own orientation and expectations in planning peer support in substance and mental health organizations, as well as the need to provide sufficient resources for supporting the peers’ well-being and coping skills in their work. Keywords: peer, peer support, NGO, substance abuse organizations, mental health organizations

1191. Pediatric Long Haul Post COVID-19: Is New Jersey’s Experience Different?

Background COVID-19 impacted nearly 4 million children, accounting for 14% of total cases in the US, 1.3-3.2% of total reported hospitalizations and less than 1% deaths attributed to COVID-19. Many studies report persistent symptoms in adults several months after acute COVID-19. Similar findings have been reported from a small cohort of children in Italy. To date there are no studies reviewing long haul symptoms in children in the US. Methods With the goal of defining long haul in pediatric population, and providing comprehensive care to these patients, RWJBarnabasHealth launched a post-COVID CARE program in October 2020 for children. The program has provided care for approximately 16 patients with COVID related Multisystem Inflammatory Syndrome (MIS-C) and 48 pediatric patients with COVID. The goal of the Pediatric Post-COVID CARE program was to provide a multidisciplinary approach for children ages 0-21 years impacted with COVID-19. This included patients who experienced ongoing symptoms >4 weeks from initial COVID-19 illness. All children were assessed by a pediatric infectious disease physician and triaged to appropriate subspecialties, all part of the long-haul care team. In addition, physical therapy and psychology support services were provided to facilitate return to normalcy. Results To date, our program has evaluated 64 patients. 28% experienced at least 1 symptom 4 weeks after acute COVID-19. Median age was 14 years and 77.8% were female. The follow-up study was conducted from October 2020 to May 2021. Data was collected 2 weeks, 6 weeks, 3 months, and 6 months post discharge or initial evaluation in clinic. 28% of patients were antibody positive, 55.6% experienced fatigue, 50% experienced shortness of breath or cough, 50% experienced ‘brain fog’,33% chest pain and 44.4% experienced anxiety and/or depression. Conclusion Early identification of patients and comprehensive protocols may facilitate return to normalcy for children with lingering somatic symptoms worsened by impact of social isolation, economic stresses, lost parental jobs, and food insecurity among many other contributing factors. Further research is needed to determine why children of certain ethnicities are impacted differently. Disclosures All Authors: No reported disclosures

The Burden of Cold Agglutinin Disease on Patients’ Daily Life: an Online Survey of 50 American Patients (Preprint)

BACKGROUND Cold agglutinin disease (CAD) is a rare and poorly understood disorder affecting 15% of patients with autoimmune hemolytic anemia. Few studies have assessed CAD symptoms and their impact on daily life, and these did not address the patients’ perspective. OBJECTIVE The aim of this research is to increase the knowledge on CAD through a patient-centric survey and to gain a better understanding of the burden of this disease. METHODS We conducted an internet-based survey in September 2020 among American patients registered on the CAD Unraveled website and members from the Cold Agglutinin Disease Foundation. RESULTS Fifty respondents were included in the study. Ninety percent of patients reported having experienced fatigue. Fatigue was mainly reported on a daily basis, and almost a third said it was constant through the day. It has also been shown that CAD had a great impact on physical well-being, emotional well-being, social life, and patients’ household finances. The disease varies over time, with or without symptoms. Eighty-eight percent of patients reported previous episodes of increased intensity/sensitivity of their CAD symptoms, with a mean number of episodes reported of 4.5 during the past year. More than half of the patients considered their disease as moderate or severe, and over 40% of the study group reported that their symptoms had worsened since the time of diagnosis. CONCLUSIONS Our study has raised new data on CAD symptoms, in particular on the importance and type of fatigue, and the fluctuation of CAD symptoms.

Assessment of risk of falls and internal risk factors in elderly patients who need heart pacemarkers

The aim is to assess the frequency of falls and intrinsic fall risk factors in patients requiring pacemakers. Methodology. The research was conducted from November 2020 to February 2021. Participated patients were hospitalized at the LUHS hospital Kauno Klinikos Department of Cardiology and required heart pacemaker implantation. Total 82 patients participated in the study. The questionnaire was composed by the authors of the research. The study was obtained by the Bioethics Permit of the Medical Academy of LUHS (No. BEC-SL (B) -42). Results. Almost half of the patients fell (45.1%) at least once a year. Elderly patients (65 years and older) are more likely to experience falls than patients under 65 years of age p=0,006. Elderly patients are more often exposed to various internal risk factors of falls: urination at night (82,9 %), weakness (82,9 %), dizziness (76,8 %). Perceived decreased leg muscle strength was found in both women and men (69.6% and 52.8%, respectively, p = 0.002). Patients older than 65 years and therefore <65 years experienced leg pain (54,9% and 7,2%, respectively, p = 0.002), urination at night (68,4% and 14,6%, respectively, p = 0.009), and experienced fatigue (63,0% and 13,6%, p = 0.028). Conclusions. Almost half of the patients who were in need of heart pacemaker implantation experienced falls. ≥ 65 years old patients experienced falls more than once a year. It has been found that these patients often experience weakness, fatigue, and dizziness. A common intrinsic fall risk factor is urination at night. ≥ 65 years old patients have more internal falls risk factors than patients under 65 years old.

Forensic Engineering Analysis of a Wheel Spindle Failure Due to Pre-Load and Fatigue

Typically, most vehicles equipped with non-powered wheels use a spindle that not only supports the weight of the vehicle but also allows the rotation of the tire. The rotation of the hub and wheel on the spindle is accomplished with the use of either a tapered or double row ball bearing. Bearings are mounted between the spindle and hub/wheel assembly, then secured with a castle nut set to a specified torque. Tapered bearings are chosen for this application because they are designed for applications where forces are generated radially (vertically) and axially (laterally) during use. Although tapered bearings are ideally suited for use in wheel and spindle assemblies, they must be installed properly to perform as designed. As part of that installation, the spindle nut must be properly torqued in order to apply a sufficient pre-load to the tapered bearings. Without the proper pre-load, the bearings can either generate too much friction or ride improperly on the spindle, generating forces that are not properly distributed. This paper will discuss the failure of a spindle and wheel assembly that experienced fatigue due to improper pre-load of the spindle nut.

Muscle Fatigue Analysis During Welding Tasks Using sEMG and Recurrence Quantification Analysis

The main goal of this study was to detect muscle fatigue and to identify muscles vulnerable to musculoskeletal disorders by evaluating muscle activation of subjects during welding tasks. In this study, six subjects performed two different welding tasks for a total of three hours. Surface electromyography (sEMG) was used to record the muscle activation of sixteen different muscles. Recurrence Quantification Analysis (RQA) was then used to analyze the EMG data. In addition, a subjective fatigue assessment was conducted to draw comparisons with the RQA results. According to the RQA results, twelve of the tested muscles experienced fatigue by showing significant difference in RQA values (p-value &lt; 0.05) between the first and last 10 minutes of the experiment. Moreover, time-to-fatigue results obtained from RQA and subjective analysis were closely correlated for seven muscle groups. This study showed that RQA can be used in ergonomic studies for evaluating muscle activation during construction tasks.

Fatigue Dan Kualitas Hidup Pada Pasien Gagal Ginjal Kronis Dengan Terapi Hemodialisa

Objective: The aim of this study was to investigate the relationship of fatigue to the quality of life among patients who undergo hemodialysisMethods: A descriptive correlative study with purposive sampling technique was applied in this study. Data obtained from direct observation using the FACIT-F questionnaire and WHOQOL BREF. A total of 80 respondents was recruited.Results: The results of the study showed the average age of the subject were 47 years, 56% of them were male, and the majority had a high school educational background. Most of the patients had a length of hemodialysis for more than two years. Hemodialysis patients were experienced fatigue with a mean value of 26,50 (SD = 7.07). Among domains of quality of life, the social domain had the lowest score (9.38). Multivariate analysis showed there was a consistent correlation between fatigue and four domains of quality of life.Conclusion: Fatigue is a major problem experienced by the patient’s hemodialysis and influences their quality of life. The researchers suggest the health services can improve promotive and preventive efforts through education, training, related to fatigue to promote quality of life for clients who undergo hemodialysis, especially female, older age, and lower educational status. Further research is expected to examine the other variables such as social support and environment

Could Virtual Reality play a role in the rehabilitation after COVID-19 infection?

Post-COVID-19 patients, particularly those who needed high care, are expected to have high needs for physical, psychological and cognitive rehabilitation. Yet, the resources needed to provide rehabilitation treatment are expected to be inadequate because healthcare systems faced a shortage of high-quality treatment of these symptoms already before the COVID-19 crisis emerged in patients with comparable needs. In this viewpoint, we discuss the potential of Virtual Reality (VR) administering fast, tailor-made rehabilitation at a distance, and offering a solution for the impending surge of demand for rehabilitation after COVID-19. VR consists of a head-mounted display (HMD) that can bring the user by computer-generated visuals into an immersive, realistic multi-sensory environment. Several studies on VR show its potential for rehabilitation and suggest VR to be beneficial in post-COVID-19. The immersion of VR may increase therapy adherence and may distract the patient from experienced fatigue and anxiety. Barriers still have to be overcome to easily implement VR in healthcare. We argue that embedding VR in virtual care platforms would assist in overcoming these barriers and would stimulate the spread of VR therapy, both for post-COVID-19 patients in the present and possibly for other patients with similar rehabilitation needs in the future.

BEDA LUARAN FUNGSI SENSORIMOTOR PASIEN DENGAN DAN TANPA FATIGUE PASCASTROKE ISKEMIK

THE DIFFERENCE OF SENSORIMOTOR FUNCTION OUTCOME IN PATIENTS WITH AND WITHOUT POST ISCHEMIC STROKE FATIGUEABSTRACTIntroduction: Post-stroke fatigue is a burden in improving neurological deficits, rehabilitation, quality of life and capacity at work. Thus, the consequences of post-stroke fatigue should be dealt seriously, considering this is a problem for the patients and difficult to deal with.Aims: To obtain the difference between sensorimotor outcome after ischemic stroke in patients with and without fatigue.Methods: Cohort prospective study of first ischemic stroke patients, conducted at Dr. Kariadi Hospital and Dr. Adhyatma Tugurejo Hospital, Semarang in May-July 2018. Fatigue was determined two weeks post stroke using FACIT-F questionnaire. Sensorimotor outcome was evaluated with Fugl-Meyer Assessment (FMA) two weeks post-stroke and two weeks after the first examination.Results: Among 44 patients with first ischemic stroke, 31.8% patients experienced fatigue and 68.2% patients did not experience it. There was significant sensorimotor outcome difference between patients with fatigue and without fatigue, and also significant variance of sensorimotor outcome difference between those groups.Discussions: Sensorimotor outcome was different between patients with and without post-stroke fatigue. Patients who experienced fatigue had poorer sensorimotor outcome (lower FMA score). They tended to be pessimistic about exercise function and avoided physical activity. Post-stroke fatigue inhibited patient participation in rehabilitation programs and was associated with poor improvement in neurological function.Keywords: FACIT-F, fatigue, Fugl-Meyer Assessment, ischemic stroke, sensorimotor outcomeABSTRAKPendahuluan: Keadaan lelah atau fatigue pascastroke akan menghambat perbaikan defisit neurologis, rehabilitasi, kualitas hidup, dan kapasitas dalam bekerja. Oleh karena itu, konsekuensi fatigue pascastroke harus ditangani secara serius, mengingat hal ini menjadi masalah bagi pasien dan sulit untuk ditangani.Tujuan: Didapatkan perbedaan luaran fungsi sensorimotor pascastroke iskemik pada pasien dengan fatigue dan tanpa fatigue.Metode: Studi kohort prospektif pada pasien stroke iskemik pertama yang dirawat di RSUP Dr. Kariadi dan RSUD Dr. Adhyatma Tugurejo, Semarang pada bulan Mei-Juli 2018. Status fatigue ditentukan 2 minggu pascastroke dengan kuesioner FACIT-F. Luaran fungsi sensorimotor dievaluasi dengan Fugl-Meyer Assessment (FMA) 2 minggu pascastroke dan 2 minggu setelah pemeriksaan pertama.Hasil: Diantara 44 pasien stroke iskemik pertama kali, 31,8% pasien mengalami fatigue dan 68,2% tidak mengalaminya. Adanya perbedaan bermakna luaran fungsi sensorimotor antara pasien dengan fatigue dan tanpa fatigue, juga didapatkan perbedaan bermakna perubahan luaran fungsi sensorimotor antara kedua kelompok tersebut.Diskusi: Luaran fungsi sensorimotor berbeda antara pasien dengan dan tanpa fatigue pascastroke iskemik. Pasien yang mengalami fatigue memiliki luaran fungsi sensorimotor lebih buruk (skor FMA lebih rendah). Pasien dengan fatigue cenderung pesimis akan fungsi olahraga dan menghindari aktivitas fisik. Fatigue pascastroke menghambat partisipasi pasien dalam program rehabilitasi serta berkaitan dengan buruknya perbaikan fungsi neurologis.Kata kunci: FACIT-F, fatigue, Fugl-Meyer Assessment, luaran fungsi sensorimotor, stroke iskemik