Abstract Background Parents of children with achondroplasia face sustained caregiving demands that may affect multiple dimensions of well-being. Despite growing recognition of these challenges, no validated, condition-specific instrument exists to assess the quality of life (QoL) of parents of children with achondroplasia. This study aimed to develop, and pilot test the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire. Methods QOLA was developed using a multi-phase mixed-methods design in accordance with established standards for developing self-reported outcome measures for caregivers and parents. Phase 1 comprised semi-structured qualitative interviews with 17 parents of children with achondroplasia to identify relevant QoL domains and language. Interview data were analysed using qualitative content analysis and informed systematic item generation (Phase 2). Conceptual structure was examined through researcher-led card sorting (Phase 3) and two rounds of international card sorting following translation (Phase 4). The resulting 63-item questionnaire across eight domains was pilot-tested in a cross-sectional, multi-country study with embedded cognitive debriefing in Germany, Italy, and Portugal (total N = 50). Results The final pilot version of QOLA comprised 63 items across eight domains covering healthcare experiences, challenges and support, physical health, mental health, social life and relationships, coping, family and daily life, and worries and future concerns. Item-level missing data were minimal, and no pronounced floor or ceiling effects were observed. Internal consistency was acceptable to good for domains (α = 0.624–0.821) and good for the total scale (α = 0.798). Inter-domain correlations were generally moderate to strong. Cognitive debriefing was highly acceptable and relevant across countries, with some suggestions for further refinement. Conclusions QOLA shows strong preliminary evidence of acceptability and internal consistency and addresses a key measurement gap in achondroplasia research. Further large-scale psychometric validation is warranted.

Parents caring for children with rare diseases are more impaired regarding health-related quality of life (HRQoL) and mental health than healthy controls and norm data. To address the research gap in psychological care for these parents, this study evaluates the effectiveness of two family-based interventions. The children affected by rare disease and their families network (CARE-FAM-NET) study is a multicenter randomized controlled 2 × 2 factorial trial for affected families with children (0-21 years). This paper focuses on evaluating the impact of two interventions, one face-to-face (CARE-FAM) and one online (WEP-CARE), on the HRQoL and mental health of parents. One thousand, one hundred sixty-eight parents participated: TAU = 291, CARE-FAM = 296, WEP-CARE = 300, and CARE-FAM + WEP-CARE combined = 281. Data were collected at four time points over a period of 18 months using standardized questionnaires. The results had to be interpreted exploratively. The results indicate that there are no clinically relevant differences in the parents' HRQoL and mental health between the treatment groups. However, time-dependent differences in the intervention effects for WEP-CARE were observed. Although the results did not show clear relevant differences between conditions, trends in improvement in HrQoL and mental health were identified. CARE-FAM shows a greater reduction in parental distress and WEP-CARE shows a greater distortion of distress, particularly at T3 and T4. Given the exploratory nature of this study, it highlights the urgent need for further confirmatory research in this area.

BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and overall wellbeing. This review summarizes findings on these parents’ coping strategies and quality of life.MethodsA narrative approach was employed to synthesize research on parental outcomes related to caring for a child with achondroplasia. The PRISMA chart flow was utilized to present the article screening strategy and results, following established guidelines for systematic reviews.ResultsThe review reveals a scarcity of studies examining the impact of caring for a child with achondroplasia on parental outcomes, with only two studies meeting the inclusion criteria. These studies suggest that having a child with achondroplasia significantly affects parental coping and quality of life, indicating substantial emotional and social implications. Additionally, no specific tools or measures to assess outcomes for these parents, highlighting a significant gap in research and resources.ConclusionThe parental experience of caring for a child with achondroplasia involves significant emotional and social challenges. Stressors from emotional distress, social isolation, altered family dynamics, and demanding healthcare interactions underscore the need for robust support systems. Addressing the research gaps requires developing and validating specific measures to assess the outcomes for parents of children with achondroplasia accurately. This will encourage further research and guide the development and evaluation of interventions to improve the coping and QoL of parents of children with achondroplasia.

Abstract Introduction Congenital abdominal wall defects (AWD) such as gastroschisis (GS) and omphalocele (OC) are malformations associated with morbidity, especially early in life. Our aim was to identify if screening instruments for mental health indicate elevated levels of difficulties. Method A systematic literature review complying with a PRISMA-protocol (PROSPERO, CRD42023443731) was undertaken. A search across five databases, focusing on mental health difficulties during childhood was conducted. Result Out of 450 articles identified, six were included, in total 168 children (median sample size; 31, range 16-38) covering an age range of 5-17 years. The studies were all cross- sectional, single-centre, originating in the Netherlands(n=3), Australia(n=2), and the USA(n=1),using parent’s reports of the instruments Strength and Difficulties Questionnaire (SDQ), (n=3), Child Behaviour Check List (CBCL), ( n=2) and Behaviour Assessment System for Children –Second Edition (BASC-2), (n=1). In most studies, the AWD group had a higher prevalence of mental health difficulties. Two studies showed that children with AWD had significantly higher levels of difficulties in at least one domain of mental health, while the other four studies found no significant differences. Discussion Screening instruments for mental health difficulties show different results regarding children born with an AWD. A subgroup reported mental health difficulties, but not always significantly more than in the healthy normative population, but previous studies have employed small sample sizes and have lacked the statistical power to detect differences. More research, preferably with larger samples from multiple centres is warranted.

OBJECTIVES:This prospective multicenter study aimed (1) to examine changes in parent-reported health-related quality of life (HRQOL) of children with short stature and the effects of the children's condition on parents themselves within the first year of human growth hormone (hGH) treatment and (2) to predict effects on parents based on main and interaction effects of children's HRQOL and increase in height.METHODS:A total of 110 parents of children aged 4-18 years, diagnosed with idiopathic growth hormone deficiency, small for gestational age, or idiopathic short stature, were recruited from 11 participating German pediatric endocrinologists and asked to fill out the short stature-specific Quality of Life in Short Stature Youth (QoLISSY) Questionnaire before hGH treatment was initiated and one year later.RESULTS:Negative effects of the children's short stature on the parents decrease over time, independent of diagnosis and treatment status. Furthermore, treatment status and height increase moderated the links between children's improved HRQOL as perceived by their parents and decreased caregiving burden.CONCLUSIONS:Based on the children's improved HRQOL and the parent's decrease in caregiving burden, patient-reported outcomes that consider parental and child's perspectives should be considered when deciding on hGH treatment for children.

Background: Pediatric growth disorders can have psychosocial and physical consequences for affected children, adolescents and their families.Objective: How do growth disorders and their treatment with growth hormones (human growth hormone; hGH) affect the quality of life of children and adolescents in the context of idiopathic growth hormone deficiency (IGHD), idiopathic short stature (ISS), Turner syndrome (TS), small for gestational-age (SGA) short stature, and Prader-Willi syndrome (PWS) and their parents?Material and methodsResults of a multiprofessional working meeting with a current literature review.Results: In Germany hGH treatment is not indicated for all mentioned diagnoses. The quality of life of children and adolescents with growth disorders and their parents is often impaired but not necessarily. For example, children and adolescents with ISS often report an average or even higher quality of life than normal growth peers. Similarly, children with PWS also report comparable quality of life to peers. Children with IGHD report impaired quality of life, and girls with TS also report adverse effects on their self-esteem and social life due to their physical health. The associations of hGH treatment and quality of life show inconsistent results; thus, studies report both unchanged quality of life (TS, IGHD) and improved quality of life (IGHD, SGA, PWS).Conclusion: Pediatric growth disorders partly have psychosocial and physical consequences but studies show inconsistent research results. Other factors besides body height play an essential role in assessing the quality of life, such as coping with the disorder.

Background: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented in research. Objective: This study aimed to develop a tool to monitor swallowing development in children aged 0 to 24 months with SMA. Methods: The method was guided by the COSMIN guidelines and followed a multi-stage Delphi process. The first step was a rapid review of swallowing outcomes in children with SMA younger than 24 months. In the second step, online group interviews with experts ( n = 7) on dysphagia in infants were conducted, followed by an anonymous online survey among experts in infants with SMA ( n = 19). A predefined consensus threshold for nominal scaled voting was set at≥75 % and for 5-point Likert scale voting at 1.25 of the interquartile range. The third step was the pilot test of the instrument, performed with three groups (healthy controls n = 8; pre-symptomatic n = 6, symptomatic n = 6). Results: Based on the multi-level interprofessional consensus, the DySMA comprises two parts (history and examination), ten categories, with 36 items. Implementation and scoring are clearly articulated and easy to implement. The pilot test showed that swallowing development could be recorded in all groups. Conclusion: The DySMA is well suited for monitoring swallowing development in pre-symptomatic and symptomatic treated infants with SMA. It can be performed in a time-efficient and interprofessional manner. The resulting score is comparable to results from other instruments measuring other domains, e.g., motor function.

INTRODUCTION:Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This narrative review aims to describe PROM use in recent pediatric surgical research, identify and describe psychometrically robust PROMs, providing an overview of those derived from pediatric patient input, and make recommendations for future research.MATERIALS AND METHODS:A search was conducted to identify articles published from 2021 to August 2023 describing the availability and/or use of at least one valid or reliable PROM in children with conditions including anorectal malformations, biliary atresia, congenital diaphragmatic hernia, duodenal atresia, esophageal atresia, abdominal wall defects, Hirschsprung's disease, sacrococcygeal teratoma, and short bowel syndrome. Articles were categorized based on their objectives in applying PROMs. Psychometrically robust PROMs were identified and described.RESULTS:Out of the 345 articles identified, 49 met the inclusion criteria. Seventeen focused on esophageal atresia and 14 on Hirschsprung's disease. Twenty-nine PROMs were identified, with 12 deemed psychometrically robust. Seven psychometrically robust PROMs were developed using patient input in the primary item generation. Most PROMs were applied to advance understanding of conditions and/or treatment and fewer were developed or psychometrically evaluated. No PROMs were assessed for their impact or incorporated into an implementation study.CONCLUSIONS:This review reveals gaps in the application of PROMs in recent pediatric surgical research. Emphasis should be placed on the development and utilization of psychometrically robust PROMs, broadening the scope of covered diseases, conducting impact assessments, and evaluating implementation strategies.

Children with short stature can experience a range of burdens due to their chronic condition. However, little is known about parents' experiences dealing with their child's short stature and the potential caregiving burdens and concerns they may face. We aim to review the literature on health-related quality of life (HRQOL), caregiving burden, and special needs among parents caring for a child with isolated growth hormone deficiency (IGHD) or idiopathic short stature (ISS). Using pre-defined inclusion and exclusion criteria, we systematically searched for literature using PubMed and Web of Science from its inception to December 2022. We identified 15 articles assessing HRQOL, special needs, or caregiving burdens in parents of IGHD/ISS children. The main problems included concerns about the future, organizational issues, side effects from growth hormone treatment, and social stigmatization. Furthermore, two studies assessed parents' special needs to cope with caregiving stress, mainly the dialogue between them and their families or parent support groups. This review outlines parental burdens, needs, and resources when caring for an IGHD/ISS child. Furthermore, it provides information about previously used measures appraising parents' special needs and underlines the need for disease-specific measurements.

Background People with complex symptomatology but unclear diagnosis presenting to a centre for rare diseases (CRD) may present with mental (co-)morbidity. We hypothesised that combining an expert in somatic medicine with a mental health specialist working in tandem will improve the diagnostic outcome.Methods Patients aged 12 years and older who presented to one of the 11 participating German CRDs with an unknown diagnosis were recruited into this prospective cohort trial with a two-phase cohort design. From October 1, 2018 to September 30, 2019, participants were allocated to standard care (SC, N = 684), and from October 1, 2019 to January 31, 2021 to innovative care (IC, N = 695). The cohorts consisted mainly of adult participants with only a minority of children included (N = 67). IC included the involvement of a mental health specialist in all aspects of care (e.g., assessing medical records, clinic visits, telehealth care, and case conferences). Clinicaltrials.gov identifier: NCT03563677.Findings The proportion of patients with diagnoses established within 12 months after the first visit to the CRD explaining the entire symptomatology (primary outcome) was 19% (N = 131 of 672) in the SC and 42% (N = 286 of 686) in the IC cohort (OR adjusted for centre effects 3.45 [95% CrI: 1.99-5.65]). The difference was mainly due to a higher prevalence of mental disorders and non-rare somatic diseases in the IC cohort. The median time to explaining diagnoses was one month shorter with IC (95% CrI: 1-2), and significantly more patients could be referred to local regular care in the IC (27.5%; N = 181 of 659) compared to the SC (12.3%; N = 81 of 658) cohort (OR adjusted for centre effects 2.70 [95% CrI: 2.02-3.60]). At 12-month follow-up, patient satisfaction with care was significantly higher in the IC compared to the SC cohort, while quality of life was not different between cohorts.Interpretation Our findings suggested that including a mental health specialist in the entire evaluation process of CRDs for undiagnosed adolescents and adults should become an integral part of the assessment of individuals with a suspected rare disease.Copyright (c) 2023 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Background: Cancer diagnosis can lead to massive physical, emotional, and social burdens on children and their families. Although children have the right to be informed and participate in their care, research shows that children's views are often not considered in care situations. Thus, it is essential to strengthen children's communication and self-efficacy (SE) to convey desires and needs. The present study explores whether a play intervention is associated with improved health-related quality of life (HrQoL) and SE for communication in care situations. We hypothesize that HrQoL and SE for communication will increase from the beginning to after the pretend play intervention. Methods: Children with cancer from Germany and Sweden were enrolled. The pretend play intervention consisted of six to 10 play sessions. A heterogenic selection of questionnaires was used to measure children's HrQoL and SE before the first pretend play session and after the last play intervention. Results: Nineteen families were included in the presented analyses, including 14 self-reports of children and 19 proxy reports of parents. We found improvements in child-reported communication, and emotional and psychosocial well-being using generic and cancer-specific HrQoL measurements. Further, children's SE in care situations improved during the play intervention. Parents also reported minor improvements in the physical dimensions in both generic and chronic‐generic HrQoL, along with improvements in independence. Discussion: Overall, the cancer-specific pretend play intervention offers young children with cancer a secure environment and can contribute to their well-being, and communication skills, during or after cancer treatment.

Diagnosing a child by newborn screening with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) causes multiple challenges for the affected parents and the whole family. We aimed to examine the health-related Quality of Life (HrQoL), coping, and needs of parents caring for a child with CAH to develop demand-responsive interventions for improving the psychosocial situation of affected families. In a retrospective cross-sectional design, we assessed HrQoL, coping patterns, and the needs of parents caring for a CAH-diagnosed child using specific questionnaires. Data of 59 families with at least one child diagnosed with CAH were analyzed. The results show that mothers and fathers in this study reached significantly higher HrQoL scores compared to reference cohorts. Decisive for the above-average parental HrQoL were effective coping behaviors and the parental needs being met. These findings verify the importance of helpful coping patterns and rapid fulfillment of parental needs for maintaining a good and stable HrQoL of parents with a child diagnosed with CAH. It is crucial to strengthen the parental HrQoL to build a reasonable basis for a healthy upbringing and improve the medical care of CAH-diagnosed children.

Objective: Treatment of pediatric growth hormone deficiency (pGHD) with daily injection of recombinant human growth hormone (somatropin) aims to increase height velocity and improve health-related quality of life (HRQoL). The Quality of Life in Short Stature Youth (QoLISSY) questionnaire was administered in a phase 3 clinical trial that evaluated efficacy and safety of once-weekly somatrogon versus once-daily somatropin in children with pGHD (ClinicalTrials.gov no NCT02968004).Methods: Treatment-naive prepubertal children with pGHD received once-weekly somatrogon or once-daily somatropin for 12 months. The QoLISSY core module (physical/social/emotional subscales) was administered at baseline and 12 months after treatment initiation. QoLISSY-Parent was completed by parents/caregivers of children <7 years old and some parents/caregivers of children >= 7 years old; children >= 7 years old self-completed QoLISSY-Child.Results: Baseline characteristics were similar between treatment groups (N = 117). Among children <7 years old, QoLISSY-Parent total and subscale scores showed similarly improved HRQoL at 12 months relative to baseline in both treatment groups. Self-reported QoLISSY-Child total and subscale scores in children >= 7 years old indicated HRQoL improvements at 12 months that were numerically better with somatrogon than somatropin (similar results with QoLISSY-Parent in this age group). At both time points, children reported better HRQoL than perceived by their parents/caregivers.Conclusion: Treatment for 12 months with once-weekly somatrogon or once-daily somatropin resulted in comparable improvements in HRQoL among children with pGHD. Lower HRQoL perceived by parents/caregivers possibly reflect children's tendency to emphasize adaptation. These results suggest that evaluation of HRQoL could help support treatment decisions in children with pGHD treated with growth hormone.

BackgroundA rare disease (RD) diagnosis and therapy can affect the family's quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families. This work aims to identify patients' and parents' experiences in daily life and with the health care system as well as their needs and current pathways to psychosocial care to develop implementation strategies adapted to the families' needs.MethodsThe present analysis is part of the national multicenter study "Children Affected by Rare Disease and Their Families-Network (CARE-FAM-NET)." We conducted semi-structured telephone interviews with children, adolescents, and young adults with RD (aged 12 to 21 years) and parents of children with RD (aged 0 to 17 years). We analyzed the transcribed and anonymized interviews using the method of focused interview analyses to identify previous experiences with medical and psychosocial care and possible needs for improvement and support.ResultsSeventy-four parents of children with RD and 15 children, adolescents, and young adults with RD participated. Five main themes emerged. Daily life with an RD: RD affects the everyday and social life of the respondents, negatively impacting mental well-being. Experiences with the health care system: The long diagnostic path is stressful for families. Professionals' lack of information/education leads to inadequate care for those affected. Psychosocial support: Families do not know about psychosocial care services. In some cases, the families take advantage of psychosocial support services (such as support groups or advocacy groups), which are predominantly very helpful. Difficulties and barriers: Time, socio-legal and organizational problems burden families and lead to advantages in using psychosocial services. Improvements for patient-oriented support: Those affected wished for timely, preventive support (especially in administrative and socio-legal matters) and education regarding psychosocial care services.ConclusionRD represent a great challenge for all family members - patients, parents, and siblings. The patients' and parents' previous experiences in daily life, medical and psychosocial care show a need for target-group specific support, including training of health care professionals and low-threshold access care services and practical help for all family members.

Zusammenfassung Hintergrund Wachstumsstörungen können psychosoziale und physische Folgen für die betroffenen Kinder, Jugendlichen und ihre Familien haben. Fragestellung Wie wirken sich Wachstumsstörungen und deren Behandlung mit Wachstumshormonen („human growth hormone“, hGH) auf die Lebensqualität von Kindern und Jugendlichen im Kontext von idiopathischem Wachstumshormonmangel („idiopathic growth hormone defiency“, IGHD), idiopathischem Kleinwuchs („idiopathic short stature“, ISS), Turner-Syndrom (TS), „Small-for-gestational-age“(SGA)-Kleinwuchs und Prader-Willi-Syndrom (PWS) aus? Material und Methoden Ergebnisse eines multiprofessionellen Arbeitstreffens mit aktueller Literaturrecherche. Ergebnisse In Deutschland ist eine hGH-Therapie nicht für alle Indikationen gegeben. Die Lebensqualität von Kindern und Jugendlichen mit Wachstumsstörungen und deren Eltern ist häufig beeinträchtigt, aber nicht zwangsweise. Kinder und Jugendliche mit ISS berichten oftmals eine normale bzw. höhere Lebensqualität als normalwüchsige Peers. Ebenso weisen Kinder mit PWS eine mit Peers vergleichbare Lebensqualität auf, während Kinder mit IGHD eine eingeschränkte Lebensqualität berichten und auch Mädchen mit TS negative Auswirkungen der körperlichen Besonderheiten auf das Selbstwertgefühl und das Sozialleben berichten. Die Zusammenhänge von hGH-Therapie und Lebensqualität weisen inkonsistente Ergebnisse auf; Studien berichten sowohl von einer unveränderten Lebensqualität (TS, IGHD) als auch von einer Verbesserung (IGHD, SGA, PWS). Diskussion Pädiatrische Wachstumsstörungen haben z. T. psychosoziale und physische Folgen. Studien zeigen jedoch inkonsistente Forschungsergebnisse. Bei der Beurteilung der Lebensqualität spielen neben der Körperhöhe noch weitere Faktoren eine wichtige Rolle, wie z. B. der familiäre Umgang mit der Erkrankung.

Purpose:To explore caregiving burden, health-related quality of life (HRQOL), stress, and individual resources of parents in the care of children with isolated growth hormone deficiency (IGHD) or idiopathic short stature (ISS). Methods:Focused interview analysis of previously, within the Quality of Life in Short Stature Youth (QoLISSY) project, conducted structured focus group discussions (n=7) with parents (n=33) of children with IGHD/ISS aged 4 to 18 years were performed. Results:26 out of the 33 parents reported mental stress due to their child's growth disorder. Social pressure and stigmatization were also mentioned as being demanding. Some parents reported having trouble with human growth hormone (hGH) treatment. Several parents wished for parent support groups with other like-minded parents of short-statured children. Conclusion:For physicians, it is essential to understand the parents' caregiving burden, stress, and individual resources in caring for IGHD/ISS children. If an impaired HRQOL is detected, psychological intervention for these parents may be scheduled, and coping mechanisms may be discussed. Furthermore, it seems essential for parents to be educated by their healthcare provider about the possible side effects of hGH treatment or to know where to find evidence-based information about it.

Diagnose und Behandlung einer seltenen Erkrankung im Kindesalter können die Lebensqualität und die psychische Gesundheit der ganzen Familie beeinträchtigen. Die psychosozialen Herausforderungen sind für Betroffene und ihre Angehörigen erheblich und werden gegebenenfalls durch das Fehlen geeigneter psychosozialer Unterstützungsangebote zusätzlich verstärkt. In diesem Beitrag sollen die Hindernisse und Barrieren der derzeitigen Zugangswege zur psychosozialen Versorgung zusammengefasst und mögliche Lösungsansätze für eine an die Bedarfe der Familien angepasste Versorgungsstrategie aufgezeigt werden. In drei Fokusgruppensitzungen mit insgesamt 14 Expert:innen aus der Versorgung von Kindern mit seltenen Erkrankungen und ihrer Familien wurden die Ergebnisse einer vorangegangenen qualitativen Studie über Hindernisse und Barrieren bei den derzeitigen Zugangswegen zur psychosozialen Versorgung vorgestellt. Mögliche Lösungsansätze wurden in den Fokusgruppen diskutiert. Trotz eines erhöhten Bedarfs an psychosozialen Unterstützungsangeboten ist es für Kinder mit seltenen Erkrankungen und deren Angehörige schwierig, diese in Anspruch zu nehmen. Um den Zugang zu erleichtern, sollten Maßnahmen auf mehreren Ebenen ansetzen. Einerseits sollte die Versorgung verstärkt an die Bedarfe der Familien angepasst werden. Gleichzeitig müssen langfristige und verlässliche Versorgungsstrukturen geschaffen werden, um eine nachhaltige Versorgung zu gewährleisten. Die strukturelle interdisziplinäre Zusammenarbeit sollte gefördert und die Ausbildung von Gesundheitsfachkräften stärker auf seltene Erkrankungen ausgerichtet werden.

ABSTRACT Background Although the rate of survival in childhood cancer today is close to 85%, a cancer diagnosis can still turn the world upside down for both children and parents. Often, children in oncology care are frustrated about their inability to control events and activities around them. Therapeutic pretend play has been suggested as a means to encourage children to express and handle emotions in a safe environment. Purpose This study was developed to describe and explore parents' experiences of a pretend play intervention that consisted of six to eight play sessions with a play facilitator administered to their children undergoing cancer treatment. Methods A descriptive qualitative method was used, including individual interviews with 15 parents. Results Three main categories were developed, including (a) experiences of joining the project, (b) perceptions of the play intervention, and (c) reflections on effects and implications, with subcategories evolved for each category. The parents experienced that the play sessions helped improve their children's communication skills and made them more capable of participating in their care. They appreciated that the intervention focused on the child's well-being and saw it as a positive break in their child's cancer treatment. It also helped them better reflect on their own situation. Conclusions/Implications for Practice According to the parents' experiences, pretend play can be a helpful tool for improving children's participation in their cancer care that strengthens their autonomy, emotional repertoire, and communication skills. However, the results also highlighted that some of the children did not fully understand the information provided about this study, which weakened the validity of their consent to participate. Thus, more work is needed on developing age-appropriate information to obtain participation consent from children. In addition, more knowledge is needed regarding how to appropriately include children with cancer in research in an ethically acceptable way.

Background: People with complex symptomatology but unclear diagnosis presenting to a centre for rare diseases (CRD) may suffer from mental (co-)morbidity. We hypothesised that combining an expert in somatic medicine with a mental health specialist working in tandem will improve the diagnostic outcome.Methods: Patients aged 12 years and older who presented to one of the 11 participating German CRDs with an unknown diagnosis were recruited into this prospective cohort trial. From 10/2018 to 09/2019, participants were allocated to standard care (SC, N=684), and from 10/2019 to 01/2021 to innovative care (IC, N=695). IC included the involvement of a mental health specialist in all aspects of care (e.g., assessing medical records, clinic visits, telehealth care, and case conferences).Findings: Primary outcome: The proportion of patients with diagnoses established within 12 months after the first visit to the CRD explaining the entire symptomatology was 19% in the SC and 42% in the IC cohort (OR 3·45 [95% CI: 1·99-5·65]). The difference was mainly due to a higher prevalence of mental disorders and non-rare somatic diseases in the IC cohort. Secondary outcomes: The median time to explaining diagnoses was one month shorter with IC (95% CI: 1-2), and significantly more patients could be referred to local regular care in the IC (19·1%) compared to the SC (8·5%) cohort (OR 2·70 [95% CI: 2·02-3·60]). At 12-month follow-up, patient satisfaction with care was significantly higher in the IC compared to the SC cohort, while quality of life was not different between cohorts.Interpretation: Including a mental health specialist in the entire evaluation process of CRDs for undiagnosed adolescents and adults should become an integral part of the assessment of individuals with a suspected rare disease.Trial Registration: Clinicaltrials.gov identifier: NCT03563677.Funding: The study was funded by the German Innovation Fund, grant number 01NVF17031.Declaration of Interest: HH, MB and TM report funding from the Bavarian State Ministry of Science and the Arts paid to their institution to support projects on rare diseases unrelated to ZSE-DUO. HH also reports unrelated funding to his institution by the Federal Ministry of Education and Research, and honoraria from Springer Verlag, Takeda Pharma GmbH and Chiesi GmbH. JD reports funding to his institution from the German Research Association, German Secretary of Education and Research, and the Innovation Fund for several unrelated projects. GH’s institution has received funding from the Innovation Fund for another project. OT’s institution has received funding from the European Regional Development Fund, EU Horizon 2020, Leibniz Association, and the Federal Ministry of Education and Research. OT has received royalties as an author. All other authors declare no competing interests.Ethical Approval: All ethics committees of the participating CRDs and the institutions involved in data analysis approved the project. Written informed consent was obtained from all participants and guardians, where applicable; minors gave assent.

Background The diagnosis and treatment of rare diseases in childhood can affect the quality of life and mental health of the entire family. The psychosocial challenges are significant for those affected and are often compounded by a lack of appropriate support services.Research question This article aims to summarize the barriers of current pathways to psychosocial care and identify potential solutions for a care strategy adapted to the needs of families.Materials and methods In three focus group sessions with 14 professionals from the field of rare pediatric diseases, the results of a previous qualitative study on barriers in current pathways to psychosocial care were presented. In the focus groups, the experts discussed possible solutions.Results and discussion Despite an increased need for psychosocial support services, it is difficult for children with rare diseases and their families to access these. To facilitate access, interventions should address multiple levels. On the one hand, care should be increasingly adapted to the needs of families. At the same time, long-term and reliable care structures need to be established to ensure sustainable care. Structural interdisciplinary collaboration should be promoted, while the training of health professionals should also be more strongly geared to rare diseases.