Background Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of multiple disease-modifying treatments within the last years, the interest of research in patients affected by SMA increased steadily. However, the psychosocial situation of parents as informal caregivers is still rarely addressed. Objectives This review aims to highlight quantitative and qualitative data about the psychosocial situation, caregiver burden, and needs of parents as informal caregivers for children and adolescents with SMA. Methods A systematic literature review was performed including quantitative and qualitative original studies focusing on different psychosocial aspects and outcomes for parents of children and adolescents < 21 years of age with SMA type I–IV (PROSPERO; registration number CRD42020219020). We searched the following databases in November 2020 with a research update in August 2021: MEDLINE, CINAHL, PsycINFO and Web of Science. Results In total, 24 articles from 23 studies were selected for inclusion (15 quantitative studies, 7 articles from 6 qualitative studies, 2 mixed methods studies). The synthesis of included studies shows multiple sources of psychosocial burden for parents of children and adolescents affected by SMA: Most studies found reduced levels of quality of life, moderate to high levels of caregiver burden and distress, as well as physical and mental health symptoms. Further, findings indicate several unmet family needs regarding information, care coordination, treatment decisions, financial support, and adequate supportive care services. Conclusion Parents of children and adolescents with SMA face multiple sources of psychosocial stressors, caregiver burden and various unmet family needs. To unburden families, the needs of parents as caregivers should be included in integrated care paths for SMA to improve their psychosocial situation and thus their ability to care for their children and to treat or prevent physical and mental health problems due to overburdening. Future research should focus not only on quality of life and on caregiving-related burden but should also examine the clinical relevance of reported symptoms to support the implementation of adequate support services for families affected by SMA.

Objective To provide an overview of quantitative data on the impact of cancer on the mental health of patients parenting minor children. We focused on mental health outcomes, their levels and prevalence, and applied measurement tools. Methods MEDLINE, CINAHL, PsycInfo and Web of Science were searched up to March 2021. We included quantitative studies, published in a peer‐reviewed journal and reporting outcomes on the mental health (e.g., depression, anxiety) of cancer patients parenting minor children (≤ 21 years). Study quality was assessed based on the National Institute for Health assessment tool for observational studies. This study is registered on PROSPERO (CRD42019141954). Results A total of 54 articles based on 36 different studies were included in this systematic review. Studies differ markedly regarding study and sample characteristics (e.g., outcome measures, sample size, parental health status). Depression and anxiety levels range from normal to abnormal, according to applied measurement tools. 7%–83% of parents with cancer have depression scores indicating probable depression and 19%–88% have anxiety scores indicating anxiety disorder. Conclusions This review reveals the dimension of mental burden affecting cancer patients parenting minor children. To identify, address and timely treat potentially arising mental health problems and support needs, affected parents should be closely monitored by healthcare professionals and referred to specialized support offers, if necessary. In the context of a comprehensive patient‐ and family‐oriented care, it is highly relevant to integrate mental health (including parental) issues routinely into oncological care by proactively asking for the patient's psychosocial situation and the family status.

Background During the COVID-19 pandemic people affected by rare diseases (RD) or caregiver of affected children have faced additional challenges. The pandemic has affected physical and mental health, social life and has led to financial consequences. Our objectives were to identify the impact of COVID-19 (1) on health care and (2) on daily life and participation of patients with RDs or caregivers from the perspective of representatives of patient organizations. Moreover, we explored their perspective on experiences of pandemic stress and resources during the pandemic. Results We conducted 18 semi-structured interviews with representatives of patient organizations (e.g. chairperson, members of the steering committee), who were asked about the experiences of their members. The interviews were transcribed verbatim and analyzed using the framework approach. We contextualized our findings on the basis of the International Classification of Functioning, Disability and Health (ICF) model and adapted it according to identified subthemes. Patients and caregivers were confronted with aspects of pandemic stress such as lack of information, access and information regarding vaccination and being a risk group for COVID-19 infection. Physical and mental functioning was reported to be negatively impacted. Lock downs and contact restrictions led, e.g., to increasing lack of nursing services or lack of necessary informal support. Participation e.g. in social life and work was reduced. Health care services including medical care and supportive care as well as additional therapies were disrupted and greater effort was necessary to organize care. According to participants, central resources were informal support networks, digitalization, patient organizations and individual characteristics. Conclusions Our study highlights the consequences of the COVID-19 pandemic on the situation of people affected by RDs and caregivers. Contextualization of the results into the biopsychosocial model reinforces the impact of the pandemic on health care as well as daily life and participation. Major challenges and difficulties were experienced during lockdowns and contact restrictions. Depending on the risk of an infection with COVID-19, certain patient groups were still isolated and reduced social contacts or still followed strict hygienic measures (e.g., wearing medical masks). Future pandemic control measures, e.g. on lockdowns and closing facilities, should consider the challenges of people with RDs and caregivers of affected children.

IntroductionPatients and families affected by a rare disease are burdened in multiple ways. Functional interface management can unburden patients or relatives from the need to be solely accountable for the navigation through the healthcare system. This study aims at (1) providing an assessment of approaches and interface management concepts in the care of rare diseases, (2) evaluating selected existing approaches and concepts and (3) developing best practice recommendations for interface management.Methods and analysisWe will conduct a mixed-methods study with three phases. In phase 1, we will develop a tool to assess existing concepts of interface management for rare diseases based on a literature search and an expert workshop. The tool will be applied in a telephone survey with representatives of centres or clinics of expertise for rare diseases (target: n=100) and cooperating practitioners (target: n=60). Based on the results of phase 1, we will select four to six centres of expertise with interface management concepts, which will be evaluated extensively in phase 2. For the evaluation, we will conduct semistructured interviews with practitioners cooperating with centres or clinics for rare diseases (target: n=50), a paper-based survey including patients or parents/legal guardians (target: n=300) from the selected centres or clinics, and semistructured interviews with patients or parents/legal guardians (target: n=50). The final phase of the study will be an integration of results from phases 1 and 2 to develop best practice recommendations for interface management in healthcare of rare diseases. In a concluding expert workshop, recommendations will be presented and finalised.Ethics and disseminationThis study was approved by the Local Psychological Ethics Committee of the Center for Psychosocial Medicine of the University Medical Center Hamburg-Eppendorf (LPEK-0062). The findings of our study will be presented on national and international conferences and published in scientific, peer-reviewed journals. To assure that centres for rare diseases get access to the study results, centres are invited to send a representative to a final expert workshop in phase 3. Moreover, an executive summary will be provided and sent to relevant stakeholders.Trial registration numberGerman Clinical Trials Registry (DRKS00020488).

Zusammenfassung. Elterliche Selbstregulation ist von großer Bedeutung für die Eltern-Kind-Interaktion und die Entwicklung des Kindes. Achtsamkeitsbasierte Interventionen zielen grundsätzlich auf die Verbesserung dieser Fähigkeit, indem sie neurokognitive Funktionen positiv beeinflussen. Das neuere Konzept des „Mindful Parenting“ betont vor allem Aspekte der Achtsamkeit in der Gestaltung der Eltern-Kind-Beziehung. In den letzten Jahren wurden erstmals achtsamkeitsbasierte Interventionen speziell für Eltern entwickelt und evaluiert. Die Ergebnisse sprechen für einen positiven Effekt solcher Programme auf Eltern und Kinder. Diese können aufgrund methodischer Einschränkungen zwar nur als vorläufig gelten, lassen aber weitere Forschungsbemühungen als lohnend erscheinen.

Background: Mindfulness training (MT) for parents of adolescents has been shown to improve mental health and stress-related outcomes in individuals and their families. Studies of MT among young people are mainly delivered in educational or clinical settings, and there is a need for controlled studies on both parent-directed and adolescentdirected approaches. It is unclear whether MT has preventive effects for substance use outcomes. The primary objective of this trial is to evaluate the effectiveness of family-based MT targeting both adolescents and their parents to prevent adolescent substance use and enhance neurobehavioral self-regulation skills that play a major role in addiction development and mental health. Methods/design: The trial design is a superiority, two-arm, randomized controlled trial in which families will participate either in the full curriculum of the evidence-based Strengthening Families Program 10-14 (SFP 10-14, German adaptation) or in a mindfulness-enhanced version of this program (SFP-Mind). Both seven-session interventions are highly structured and will each be delivered over a period of approximately 7 weeks. The experimental intervention SFP-Mind is a modified version of the SFP 10-14 in which some elements were eliminated or changed to enable the inclusion of additional parent-directed and adolescent-directed mindfulness components. The primary outcome is adolescent self-reported alcohol use based on an alcohol initiation index at 18-month follow-up. Dispositional mindfulness, impulsivity, and emotion regulation will be included as secondary outcomes and potential mechanisms of action. The study will recruit and randomize 216 adolescents, aged 10-14 years, and their parents who will be followed up for 18 months.

Spinal muscular atrophy (SMA) is a neurodegenerative disorder that is characterized by progressive weakness, respiratory insufficiency, and dysphagia. Due to symptom burden and disease progress, its care management and impact on daily life can severely burden the families of affected children. The objectives of this study are (1) to explore the health care experiences and (2) to investigate the psychosocial needs of the parents of children with SMA. In total, 29 parents of patients with SMA participated in our study. All children received supportive therapy (e.g., physiotherapy) and most were dependent on medical equipment. Parents perceived the health care positively regarding team quality, communication and access to medical care. An assessment of the impact of the child’s health on the family (e.g., stressors, burden, consequences) is not routinely integrated into care. On average, parents reported low to medium levels of psychosocial needs. Due to the complex health care needs of SMA patients, the health care experiences of parents can provide relevant information on care delivery. To enhance the inclusion of psychosocial and emotional issues, as well as family impact, into routine health care, health care providers should be sensitive towards parental needs for consistency in the health care team and emotional aspects and, if applicable, address them proactively.

Zusammenfassung Hintergrund Seltene Erkrankungen (SE) sind häufig durch komplexe Beschwerdebilder charakterisiert und erfordern in der Regel im Diagnose- und Versorgungsverlauf die Zusammenarbeit von spezialisierten Zentren und Primärversorgenden. Reibungslose Schnittstellen mit geringem Informationsverlust und Kooperation stellen daher eine essenzielle Grundlage in der Versorgung dar. Das Projekt „Evaluation von Schnittstellenmanagementkonzepten bei Seltenen Erkrankungen“ (ESE-Best) verfolgte mittels verschiedener Erhebungsinstrumente das Ziel, Empfehlungen für die Gestaltung und Umsetzung von Schnittstellen in der Versorgung von Menschen mit Seltenen Erkrankungen zu entwickeln. Methoden Es wurden mittels quantitativer und qualitativer Befragungen die Perspektiven der Zentren für Seltene Erkrankungen (ZSE), der Primärversorgung und der Betroffenen (Patient:innen, Eltern) erfragt sowie 2 Expert:innen-Workshops durchgeführt. Ergebnisse Es wurden insgesamt 28 Empfehlungen in den folgenden 5 Bereichen formuliert: 1) Vernetzung zwischen Primärversorgung und Zentren für Seltene Erkrankungen (ZSE), 2) Schnittstellen innerhalb der ZSE, 3) Bekanntheit von Seltenen Erkrankungen, ZSE-Strukturen und Zuständigkeiten, 4) Schnittstellen zwischen ZSE und Patient:innen sowie 5) weiterführende Empfehlungen. Diskussion Die Empfehlungen sollen zukünftig zu einem funktionierenden Schnittstellenmanagement bei der Versorgung von Menschen mit Seltenen Erkrankungen beitragen. Da die Erfahrungswerte von Primärversorgenden, ZSE und Betroffenen in die Entwicklung der Empfehlungen eingeflossen sind, können die externe Validität und damit die Umsetzbarkeit im Alltag angenommen werden. Es ist zu bedenken, dass zeitliche und personelle Ressourcen sowie organisationale Strukturen die Schnittstellenarbeit im Einzelfall beeinflussen können. Die Empfehlungen können an örtliche Gegebenheiten adaptiert werden.