scholarly journals Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET

Author(s):  
Silke Wiegand-Grefe ◽  
Jonas Denecke ◽  

ZusammenfassungSeltene Erkrankungen (SE) sind eine sehr heterogene Gruppe komplexer Krankheitsbilder, verlaufen meist chronisch, können die Lebenserwartung einschränken und manifestieren sich oft bereits im Kindesalter. Das Krankheitsmanagement erfordert meist einen hohen Grad an Unterstützung und Pflege durch Eltern und Geschwister und stellt hohe Anforderungen an die Familie. Die Betroffenen, ihre Geschwister und Eltern sind häufig körperlich und psychisch hochbelastet. Dennoch muss die Familie „funktionieren“ und die Pflege des erkrankten Kindes organisieren. Selbst bei großen Belastungen und psychischen Symptomen suchen viele Eltern keine herkömmliche psychosoziale Versorgung für sich oder ihr Kind auf, weil dies zusätzliche Ressourcen erfordern würde. „Children affected by rare diseases and their families–network“ (CARE-FAM-NET) bündelt renommierte, auf Kinder mit SE spezialisierte Partner und Zentren: vonseiten der Kinderkliniken, psychosozialen Medizin, Selbsthilfe, Gesundheitsökonomie, Biometrie und Qualitätssicherung, Jugendhilfe und Bundespolitik. Zentrale Ziele bestehen in Implementierung, Begleitevaluation und Transfer der neuen „Face-to-face“- (CARE-FAM) und Online-Intervention (WEP-CARE [Webbasiertes Elterprogramm-CARE]) für Kinder mit SE und ihre Familien an bundesweit 17 Standorten. Im Zentrum des Versorgungsmodells von CARE-FAM-NET steht eine psychosoziale Intervention, die individuell und passgenau auf die jeweilige Familie zugeschnitten ist und den genannten Anforderungen gerecht wird: sektorenübergreifend, bedarfs-, familienorientiert, interdisziplinär und fachübergreifend. Die Bedingungen für den Transfer der neuen Versorgungsformen in die Regelversorgung werden in CARE-FAM-NET geschaffen, geprüft und diese sollen nach positiver Evaluation in der Regelversorgung umgesetzt werden.

2018 ◽  
Vol 75 (4) ◽  
pp. 199-207
Author(s):  
Raphaël Tamò ◽  
Marianne Rohrbach ◽  
Matthias Baumgartner ◽  
Felix Beuschlein ◽  
Albina Nowak

Zusammenfassung. Lysosomale Speicherkrankheiten (LSK) sind eine Gruppe von über 50 hereditären Erkrankungen, welche durch eine gestörte lysosomale Funktion charakterisiert sind. Das Lysosom fungiert als Recyclinganlage der Zelle. Der Grossteil der LSK wird durch einen Mangel an sauren Hydrolasen ausgelöst. Der gestörte Metabolismus führt dann zur Akkumulation komplexer Moleküle. Die klassische Einteilung der LSK orientiert sich an diesen Hauptspeichermolekülen und unterscheidet Sphingolipidosen (Glykosphingolipide), Mukopolysaccharidosen (Glykosaminoglykane) und Oligosaccharidosen (Oligosaccharide, Glykoproteine) (In Klammern jeweils das Hauptspeichermolekül). Die moderne Einteilung weitet den Begriff auf alle Erkrankungen aus, welche einen Defekt einer Komponente zeigen, die für die normale Funktion des Lysosoms nötig ist. Dies können lysosomale Membranproteine, Aktivatorproteine, Transportproteine oder nicht-lysosomale Proteine sein. Mit einer gemeinsamen Inzidenz von etwa 16 Fällen pro 100’000 Lebendgeburten sind die LSK insgesamt seltene Erkrankungen. Ergebnisse aus Screening-Untersuchungen deuten jedoch darauf hin, dass die Inzidenz unter Lebendgeburten unterschätzt wird. Die häufigsten LSK sind die beiden Sphingolipidosen Morbus Gaucher und Morbus Fabry. Die Gemeinsamkeiten der LSK bezüglich ihrer Symptomatik sind die systemischen Manifestationen und die häufige zerebrale Beteiligung. Die Ausprägung der Symptome ist innerhalb der Erkrankungen sehr unterschiedlich. Die pathophysiologischen Prozesse sind vielfältig und nicht durch blosse Überladung und konsekutiven Untergang der Zelle bedingt. Therapeutisch sind verschiedene Angriffspunkte vorhanden: die Substitution der Enzyme mittels Enzymersatztherapie, die Gentherapie oder hämatopoetischen Stammzelltransplantation, die Stabilisierung der defekten Enzyme durch pharmakologische Chaperone sowie die Verringerung der Substrate durch Substratreduktionstherapie.


2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S356-S356
Author(s):  
Carol M Musil ◽  
Jaclene Zauszniewski ◽  
Alexandra Jeanblanc ◽  
McKenzie Wallace ◽  
Christina Henrich ◽  
...  

Abstract Little research has been conducted on the development and testing of interventions to support grandmothers during their caregiving experience. Our descriptive and pilot intervention studies provide the foundation for converting a face-to-face resourcefulness intervention into an NIH-funded self-administered, online intervention for grandmother caregivers, to determine its impact on individual health and family well-being. The online intervention provides personal and social resourcefulness training using online video content and structured reflective journaling to reinforce resourcefulness skills compared to reflective journaling. We are testing the resourcefulness intervention in a randomized clinical trial (RCT) with a national sample of 334 grandmothers living with/raising grandchildren, comparing the resourcefulness training protocol vs. unstructured journaling alone. Given the limited interventions available to grandmother caregivers, an intervention that transcends time and place and is available 24 hours a day is expected to bolster the personal and social resourcefulness, which will in turn affect individual and family outcomes.


Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lukas Retzer ◽  
Monika Feil ◽  
Richard Reindl ◽  
Kneginja Richter ◽  
Robert Lehmann ◽  
...  

Abstract Background Many shift workers suffer from sleep issues, which negatively affect quality of life and performance. Scientifically evaluated, structured programs for prevention and treatment are scarce. We developed an anonymous online cognitive behavioral therapy for insomnia (CBT-I) program. After successful completion of a feasibility study, we now start this prospective, randomized, controlled superiority trial to compare outcomes of two parallel groups, namely an intervention group and a waiting-list control-group. Additionally, we will compare these outcomes to those of a face-to-face CBT-I outpatient sample. Methods Collaborating companies will offer our anonymous online intervention to their shift-working employees. Company physicians and counseling services will screen those interested for inclusion and exclusion criteria. Participants will receive access to our online service, where they will complete psychometric assessment and receive random assignment to either the intervention group or the waiting-list control group. Participants and providers will be aware of the group assignment. We aim to allocate at least N = 60 participants to the trial. The intervention consists of psychoeducation, sleep restriction, stimulus control, relaxation techniques, and individual feedback delivered via four e-mail contacts. During the intervention, as well as during the waiting period, participants will fill out weekly sleep diaries. Immediately after completion of the program, the post-intervention assessment takes place. Participants in the control group will be able to participate in the program after all study assessments. To recruit an additional sample, collaborating outpatient sleep clinics will provide six sessions of standard face-to-face CBT-I to an ad hoc sample of shift working patients. We expect both the online and the face-to-face CBT-I interventions to have beneficial effects compared to the control group on the following primary outcomes: self-reported symptoms of depression and insomnia, sleep quality, and daytime sleepiness. Conclusions The online intervention allows shift workers to follow a CBT-I program independently of their working schedule and location. Forthcoming results might contribute to further improvement of prevention and therapy of sleep issues in shift workers. Trial registration German Clinical Trials Register DRKS DRKS00017777. Registered on 14 January 2020—retrospectively registered.


Author(s):  
Lee Ritterband ◽  
Frances Thorndike ◽  
Desi Vasquez ◽  
Drew Saylor

Chapter 22 explores treatment credibility and satisfaction, and notes that users’ ratings of treatment credibility before the commencement of an online intervention tend to range from intermediate to high and are comparable with user ratings of satisfaction after use. The authors also note that, in some cases, user satisfaction might be higher for online treatments than for their face-to-face counterparts. They offer insights as to why ratings may vary and how LI practitioners might manage the variation.


2020 ◽  
Vol 6 (1) ◽  
Author(s):  
J. W. Hoefnagels ◽  
K. Fischer ◽  
R. A. T. Bos ◽  
M. H. E. Driessens ◽  
S. L. A. Meijer ◽  
...  

Abstract Introduction Haemophilia is a congenital bleeding disorder mainly affecting males. To prevent bleeding, patients need to perform regular intravenous injections (prophylaxis) throughout life. Non-adherence often occurs. Problems with acceptance or self-management appear to be the main reasons for non-adherence in haemophilia. The aim of this study was to test the feasibility and effects of two interventions focussed on acceptance (face-to-face) and self-management (online). Methods Patients with severe haemophilia and acceptance or self-management problems were eligible. The face-to-face group intervention was based on Acceptance and Commitment Therapy (ACT) (8 sessions/6 months, target N = 8 participants). The online intervention was based on a successful online programme in rheumatoid arthritis (5–8 modules/2 months, target N = 8). Both interventions were designed according to the MRC framework in collaboration with the patient society and experts. We compared adherence (VERITAS-Pro, optimum 0), quality of life (SF-36, optimum 100) and illness perception (BIPQ, optimum 0) before start (T0) and after 2 months (T2). Feasibility criteria were as follows: completion of training by > 50% of participants and ability to collect at least 80% of outcome parameters. Results The face-to-face intervention was feasible (89% enrolment and recruitment, 100% retention). One hundred percent of the outcome parameters was collected. Results were promising: although adherence (VERITAS-Pro) was stable (from 64 to 62 points), quality of life (SF-36) showed a clinically relevant improvement (> 5 points) in five of eight domains. Illness perception (BIPQ) showed a clinically relevant increase from 47 to 39 points. Patient evaluation was positive. The online intervention, however, was infeasible: enrolment was only 20% (6/30). Only three patients signed informed consent (recruitment 10%), and none completed more than one module (retention 0%). Consequently, the online intervention was terminated. Conclusion The face-to-face acceptance intervention was considered feasible with promising results. Unfortunately, the online intervention was infeasible and therefore terminated. These findings suggest that adapting effective interventions to other settings does not guarantee success, despite the use of established methodology and patient participation. Population differences (only male participants, congenital disease) could be an explanation for failure of the online intervention in haemophilia despite success in rheumatoid arthritis. Trial registration NL55883.041.16


2020 ◽  
Vol 24 (10) ◽  
pp. 1238-1247
Author(s):  
Miriam Douma ◽  
Charlotte P. Bouman ◽  
Hedy A. van Oers ◽  
Heleen Maurice-Stam ◽  
Lotte Haverman ◽  
...  

Abstract Objectives Parents of children with a chronic illness (CI) are at risk for psychosocial problems. The aim of this study was to refine an existing face-to-face intervention into an online psychosocial group intervention for parents by (1) exploring which themes are important, (2) determine what type of intervention parents would like and (3) assess parents’ practical preferences. Methods Parents of children with a CI (0–18 years) were invited to complete an online questionnaire. To acquire more in-depth information, focus groups and telephone interviews were conducted. Descriptive statistics were used. Results 272 parents (mean age = 43.1 years, 85% female) participated. Three focus groups (15 parents) and seven telephone interviews were conducted. Most important themes were: the CI of the child, family functioning, taking care of yourself, relationships with others and practical support. Parents preferred a group with parents of children in the same age category. At first, parents preferred face-to-face contact. After an explanation and demonstration of an online intervention, parents became more positive about online support, mostly because they could participate from home. Conclusions for Practice Parents have a need for psychosocial support focusing on different themes. Professionals should explain and demonstrate an online intervention to parents. Based on these results, Op Koers Online for parents was developed. An RCT to assess feasibility and effectiveness of the intervention is currently running.


2021 ◽  
Author(s):  
Samantha M Loi ◽  
Joanne Tropea ◽  
Ellen Gaffy ◽  
Anita Panayiotou ◽  
Hannah Capon ◽  
...  

Abstract Background: With increasing numbers of people living with dementia relying on family to care for them at home, there is an urgent need for practical and evidence-based programs to support carers in maintaining their mental health and well-being. The objective of this study was to evaluate the acceptability and feasibility of a modified STrAtegies for RelaTives (START) program delivered online (START-online). Method: A mixed methods non-blinded evaluation of START-online (using Zoom as videoconferencing platform) for acceptability and feasibility (completion rates and qualitative feedback through surveys and focus groups) and quantitative evaluation. This occurred at the National Ageing Research Institute, in metropolitan Victoria, Australia.Results: Twenty-nine eligible carers were referred, 20 (70%) consented to the study. Of these 16 (80%) completed all eight sessions, two completed only three sessions, and two withdrew. Carers’ qualitative feedback indicated that the therapist interaction was valued, content and online delivery of the program was acceptable. Feedback was mixed on the appropriate stage of caring. Conclusion: START-online was feasible and acceptable for carers, including those living outside of metropolitan areas who might otherwise be unable to access face-to-face programs. With the recent COVID-19 pandemic necessitating social distancing to avoid infection, interventions such as this one have increasing relevance in the provision of flexible services.


2021 ◽  
Author(s):  
Lukas Retzer ◽  
Monika Feil ◽  
Richard Reindl ◽  
Kneginja Richter ◽  
Robert Lehmann ◽  
...  

Abstract Background: Many shift workers suffer from sleep issues, which negatively affect quality of life and performance. Scientifically evaluated, structured programs for prevention and treatment are scarce. We developed an anonymous online cognitive behavioral therapy for insomnia (CBT-I) program. After successful completion of a feasibility study, we now start this prospective, randomized, controlled superiority trial to compare outcomes of two parallel groups, namely an intervention group and a waiting-list control-group. Additionally, we will compare these outcomes to those of a face-to-face CBT-I outpatient sample.Methods: Collaborating companies will offer our anonymous online intervention to their shift-working employees. Company physicians and counseling services will screen those interested for inclusion and exclusion criteria. Participants will receive access to our online service, where they will complete psychometric assessment and receive random assignment to either the intervention group or the waiting-list control group. Participants and providers will be aware of the group assignment. We aim to allocate at least N = 60 participants to the trial. The intervention consists of psychoeducation, sleep restriction, stimulus control, relaxation techniques, and individual feedback delivered via four e-mail contacts. During the intervention, as well as during the waiting period, participants will fill out weekly sleep diaries. Immediately after completion of the program, the post-intervention assessment takes place. Participants in the control group will be able to participate in the program after all study assessments. To recruit an additional sample, collaborating outpatient sleep clinics will provide six sessions of standard face-to-face CBT-I to an ad-hoc sample of shift working patients. We expect both the online and the face-to-face CBT-I interventions to have beneficial effects compared to the control group on the following primary outcomes: self-reported symptoms of depression and insomnia, sleep quality, and daytime sleepiness. Conclusions: The online intervention allows shift workers to follow a CBT-I program independently of their working schedule and location. Forthcoming results might contribute to further improvement of prevention and therapy of sleep issues in shift workers.


2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.


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