IntroductionThe transition to newborn life has typically been studied in intubated and mechanically ventilated newborn lambs delivered via caesarean section (CS) under general anaesthesia. As a... Show moreIntroductionThe transition to newborn life has typically been studied in intubated and mechanically ventilated newborn lambs delivered via caesarean section (CS) under general anaesthesia. As a result, little is known of the spontaneous breathing patterns in lambs at birth, particularly those at risk of developing respiratory distress (RD). We have developed a method for delivering spontaneously breathing near-term lambs to characterise their breathing patterns in the immediate newborn period.MethodsAt 137-8 days gestation (2-3 days prior to delivery; term similar to 147 days), fetal lambs (n = 7) were partially exteriorised for instrumentation (insertion of catheters and flow probes) before they were returned to the uterus. At 140 days, lambs were delivered via CS under light maternal sedation and spinal anaesthesia. Lambs were physically stimulated and when continuous breathing was established, the umbilical cord was clamped. Breathing patterns were assessed by measuring intrapleural and upper-tracheal pressures during the first four hours after birth.ResultsNewborn lambs display significant heterogeneity in respiratory patterns in the immediate newborn period that change with time after birth. Seven distinct breathing patterns were identified including: (i) quiet (tidal) breathing, (ii) breathing during active periods, (iii) breathing during oral feeding, (iv) tachypnoea, (v) expiratory braking manoeuvres, (vi) expiratory pauses or holding, and (vii) step changes in ventilation.ConclusionsWe have described normal respiratory behaviour in newborn lambs, in order to identify respiratory behaviours that are indicative of RD in term newborn infants. Show less
Background: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often... Show moreBackground: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often build up at home. Moreover, interventions often focus on either distraction or preparation. eHealth can combine multiple strategies and provide a low-cost solution that can be used outside the hospital. Objective: To develop an eHealth solution to diminish preprocedural stress and anxiety, and to evaluate the app on use, usability and user experience in practice. We also aimed to gain in-depth insights in children's and caregivers' opinions and experiences to inform future improvements. Methods:This is a multi-study report on the development (Study 1) and evaluation (Study 2) of a first version of the developed app. In study 1 we adopted a participatory design approach in which children's experiences were central to the design process. We performed an experience journey session with stakeholders (n = 13) to map the child's outpatient journey, identify pains and gains, and formulate the desired experience journey. Iterative development and testing with children (n = 8) and caregivers (n = 6) resulted in a working prototype. The prototype was tested with children, resulting in a first version of the Hospital Hero app. The app was evaluated on use, user-experience and usability during an eight-week pilot study in practice (Study 2). We triangulated data from online interviews with children and caregivers (n = 21) and online questionnaires (n = 46). Results: Multiple stress and anxiety experience touchpoints were identified. The Hospital Hero app supports children in their hospital journey by facilitating preparation at home and providing distraction at the hospital. The pilot study showed that the app was evaluated positively on usability and user-experience and is considered feasible. Qualitative data showed five themes: (1) user-friendliness, (2) coherence and power of storytelling, (3) motivation and reward, (4) fit with real hospital journey, (5) procedural comfort. Discussion: Using participatory design, we developed a child-centered solution that supports children in the entire hospital journey and may diminish preprocedural stress and anxiety. Future efforts should create a more tailored journey, define an optimal engagement window and formulate implementation strategies. Show less
Background: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often... Show moreBackground: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often build up at home. Moreover, interventions often focus on either distraction or preparation. eHealth can combine multiple strategies and provide a low-cost solution that can be used outside the hospital.Objective: To develop an eHealth solution to diminish preprocedural stress and anxiety, and to evaluate the app on use, usability and user experience in practice. We also aimed to gain in-depth insights in children's and caregivers' opinions and experiences to inform future improvements.Methods: This is a multi-study report on the development (Study 1) and evaluation (Study 2) of a first version of the developed app. In study 1 we adopted a participatory design approach in which children's experiences were central to the design process. We performed an experience journey session with stakeholders (n = 13) to map the child's outpatient journey, identify pains and gains, and formulate the desired experience journey. Iterative development and testing with children (n = 8) and caregivers (n = 6) resulted in a working prototype. The prototype was tested with children, resulting in a first version of the Hospital Hero app. The app was evaluated on use, user-experience and usability during an eight-week pilot study in practice (Study 2). We triangulated data from online interviews with children and caregivers (n = 21) and online questionnaires (n = 46).Results: Multiple stress and anxiety experience touchpoints were identified. The Hospital Hero app supports children in their hospital journey by facilitating preparation at home and providing distraction at the hospital. The pilot study showed that the app was evaluated positively on usability and user-experience and is considered feasible. Qualitative data showed five themes: (1) user-friendliness, (2) coherence and power of storytelling, (3) motivation and reward, (4) fit with real hospital journey, (5) procedural comfort.Discussion: Using participatory design, we developed a child-centered solution that supports children in the entire hospital journey and may diminish preprocedural stress and anxiety. Future efforts should create a more tailored journey, define an optimal engagement window and formulate implementation strategies. Show less
Background: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often... Show moreBackground: Medical procedures can cause considerable stress and anxiety among children. Current interventions mainly diminish stress and anxiety during procedures, while stress and anxiety often build up at home. Moreover, interventions often focus on either distraction or preparation. eHealth can combine multiple strategies and provide a low-cost solution that can be used outside the hospital.Objective: To develop an eHealth solution to diminish preprocedural stress and anxiety, and to evaluate the app on use, usability and user experience in practice. We also aimed to gain in-depth insights in children's and caregivers' opinions and experiences to inform future improvements.Methods: This is a multi-study report on the development (Study 1) and evaluation (Study 2) of a first version of the developed app. In study 1 we adopted a participatory design approach in which children's experiences were central to the design process. We performed an experience journey session with stakeholders (n = 13) to map the child's outpatient journey, identify pains and gains, and formulate the desired experience journey. Iterative development and testing with children (n = 8) and caregivers (n = 6) resulted in a working prototype. The prototype was tested with children, resulting in a first version of the Hospital Hero app. The app was evaluated on use, user-experience and usability during an eight-week pilot study in practice (Study 2). We triangulated data from online interviews with children and caregivers (n = 21) and online questionnaires (n = 46).Results: Multiple stress and anxiety experience touchpoints were identified. The Hospital Hero app supports children in their hospital journey by facilitating preparation at home and providing distraction at the hospital. The pilot study showed that the app was evaluated positively on usability and user-experience and is considered feasible. Qualitative data showed five themes: (1) user-friendliness, (2) coherence and power of storytelling, (3) motivation and reward, (4) fit with real hospital journey, (5) procedural comfort.Discussion: Using participatory design, we developed a child-centered solution that supports children in the entire hospital journey and may diminish preprocedural stress and anxiety. Future efforts should create a more tailored journey, define an optimal engagement window and formulate implementation strategies. Show less
Ronde, E.; Frerichs, N.M.M.; Brantenaar, S.; El Hassani El Manouni, S.; Wicaksono, A.N.N.; Covington, J.A.A.; ... ; Schoenmakers, S. 2022
Strategies to ensure high intraocular oxygen delivery to the developing retina after 32 weeks gestational age, such as higher saturation targets and/or higher hemoglobin levels, are hypothesized to... Show moreStrategies to ensure high intraocular oxygen delivery to the developing retina after 32 weeks gestational age, such as higher saturation targets and/or higher hemoglobin levels, are hypothesized to prevent ophthalmological treatment for retinopathy of prematurity (ROP). This short report summarizes the current evidence of these strategies, and discusses possibilities of future studies. A large sample size would be required and therefore the feasibility of a future randomized controlled trial is questioned. Show less
As the complexity of emergency care increases, current research methods to improve care are often unable to capture all aspects of everyday clinical practice. Video recordings can visualize... Show moreAs the complexity of emergency care increases, current research methods to improve care are often unable to capture all aspects of everyday clinical practice. Video recordings can visualize clinical care in an objective way. They can be used as a tool to assess care and to reflect on care with the caregivers themselves. Although the use of video recordings to reflect on medical interventions (video-reflection) has increased over the years, it is still not used on a regular basis. However, video-reflection proved to be of educational value and can improve teams' management and performance. It has a positive effect on guideline adherence, documentation, clinical care and teamwork. Recordings can also be used for video-reflexivity. Here, caregivers review recordings together to reflect on their everyday practice from new perspectives with regard to context and conduct in general. Although video-reflection in emergency care has proven to be valuable, certain preconditions have to be met and obstacles need to be overcome. These include gaining trust of the caregivers, having a proper consent-procedure, maintaining confidentiality and adequate use of technical equipment. To implement the lessons learned from video-reflection in a sustainable way and to continuously improve care, it should be integrated in regular simulation training or education. This narrative review will describe the development of video recording in emergency care and how video-reflection can improve patient care and safety in new ways. On our own department, the NICU at the LUMC, video-reflection has already been implemented and we want to further expand this. We will describe the use of video-reflection in our own unit. Based on the results of this narrative review we will propose options for future research to increase the value of video-reflection. Show less
BackgroundInfants with a congenital diaphragmatic hernia (CDH) and expected mild pulmonary hypoplasia have an estimated survival rate of 90%. Current guidelines for delivery room management do not... Show moreBackgroundInfants with a congenital diaphragmatic hernia (CDH) and expected mild pulmonary hypoplasia have an estimated survival rate of 90%. Current guidelines for delivery room management do not consider the individual patient's disease severity, but an individualized approach with spontaneous breathing instead of routine mechanical ventilation could be beneficial for the mildest cases. We developed a resuscitation algorithm for this individualized approach serving two purposes: improving the success rate by structuring the approach and providing a guideline for other centers. MethodsAn initial algorithm was discussed with all local stakeholders. Afterwards, the resulting algorithm was refined using input from international experts. ResultsEligible CDH infants: left-sided defect, observed to expected lung-to-head ratio >= 50%, gestational age at birth >= 37.0 weeks, and no major associated structural or genetic abnormalities. To facilitate fetal-to-neonatal transition, we propose to start stabilization with non-invasive respiratory support and to adjust this individually. ConclusionsInfants with mild CDH might benefit from an individualized approach for neonatal resuscitation. Herein, we present an algorithm that could serve as guidance for centers implementing this. Show less
BackgroundInfants with a congenital diaphragmatic hernia (CDH) and expected mild pulmonary hypoplasia have an estimated survival rate of 90%. Current guidelines for delivery room management do not... Show moreBackgroundInfants with a congenital diaphragmatic hernia (CDH) and expected mild pulmonary hypoplasia have an estimated survival rate of 90%. Current guidelines for delivery room management do not consider the individual patient's disease severity, but an individualized approach with spontaneous breathing instead of routine mechanical ventilation could be beneficial for the mildest cases. We developed a resuscitation algorithm for this individualized approach serving two purposes: improving the success rate by structuring the approach and providing a guideline for other centers. MethodsAn initial algorithm was discussed with all local stakeholders. Afterwards, the resulting algorithm was refined using input from international experts. ResultsEligible CDH infants: left-sided defect, observed to expected lung-to-head ratio >= 50%, gestational age at birth >= 37.0 weeks, and no major associated structural or genetic abnormalities. To facilitate fetal-to-neonatal transition, we propose to start stabilization with non-invasive respiratory support and to adjust this individually. ConclusionsInfants with mild CDH might benefit from an individualized approach for neonatal resuscitation. Herein, we present an algorithm that could serve as guidance for centers implementing this. Show less
McGillick, E.V.; Pas, A.B. te; Akker, T. van den; Keus, J.M.H.; Thio, M.; Hooper, S.B. 2022
Respiratory distress in the first few hours of life is a growing disease burden in otherwise healthy babies born at term (>37 weeks gestation). Babies born by cesarean section without labor (i.e... Show moreRespiratory distress in the first few hours of life is a growing disease burden in otherwise healthy babies born at term (>37 weeks gestation). Babies born by cesarean section without labor (i.e., elective cesarean section) are at greater risk of developing respiratory distress due to elevated airway liquid volumes at birth. These babies are commonly diagnosed with transient tachypnea of the newborn (TTN) and historically treatments have mostly focused on enhancing airway liquid clearance pharmacologically or restricting fluid intake with limited success. Alternatively, a number of clinical studies have investigated the potential benefits of respiratory support in newborns with or at risk of TTN, but there is considerable heterogeneity in study designs and outcome measures. A literature search identified eight clinical studies investigating use of respiratory support on outcomes related to TTN in babies born at term. Study demographics including gestational age, mode of birth, antenatal corticosteroid exposure, TTN diagnosis, timing of intervention (prophylactic/interventional), respiratory support (type/interface/device/pressure), and study outcomes were compared. This narrative review provides an overview of factors within and between studies assessing respiratory support for preventing and/or treating TTN. In addition, we discuss the physiological understanding of how respiratory support aids lung function in newborns with elevated airway liquid volumes at birth. However, many questions remain regarding the timing of onset, pressure delivered, device/interface used and duration, and weaning of support. Future studies are required to address these gaps in knowledge to provide evidenced based recommendations for management of newborns with or at risk of TTN. Show less
Background: Large amounts of data are collected in neonatal intensive care units, which could be used for research. It is unclear whether these data, usually sampled at a lower frequency, are... Show moreBackground: Large amounts of data are collected in neonatal intensive care units, which could be used for research. It is unclear whether these data, usually sampled at a lower frequency, are sufficient for retrospective studies. We investigated what to expect when using one-per-minute data for descriptive statistics. Methods: One-per-second inspiratory oxygen and saturation were processed to one-per-minute data and compared, on average, standard deviation, target range time, hypoxia, days of supplemental oxygen, and missing signal. Results: Outcomes calculated from data recordings (one-per-minute = 92, one-per-second = 92) showed very little to no difference. Sub analyses of recordings under 100 and 200 h showed no difference. Conclusion: In our study, descriptive statistics of one-per-minute data were comparable to one-per-second and could be used for retrospective analyses. Comparable routinely collected one-per-minute data could be used to develop algorithms or find associations, retrospectively. Show less
ObjectiveThe resistance created by the PEEP-valve of a T-piece resuscitator is bias gas flow dependent and might affect breathing in preterm infants. In this study we investigated the effect of a... Show moreObjectiveThe resistance created by the PEEP-valve of a T-piece resuscitator is bias gas flow dependent and might affect breathing in preterm infants. In this study we investigated the effect of a higher bias gas flow on the imposed inspiratory and expiratory T-piece resistance and expiratory breaking manoeuvres (EBM) in preterm infants during spontaneous breathing on CPAP at birth. MethodsIn a retrospective pre-post implementation study of preterm infants <32 weeks gestation, who were stabilised with a T-piece resuscitator, a bias gas flow of 12 L/min was compared to 8 L/min. All spontaneous breaths on CPAP within the first 10 min of starting respiratory support were analysed on a breath-by-breath basis to determine the breathing pattern of each breath and to calculate the imposed inspiratory and expiratory T-piece resistance (Ri, Re), flow rates and tidal volume. ResultsIn total, 54 infants were included (bias gas flow 12 L/min: n = 27, 8 L/min: n = 27) with a median GA of 29(+6) (28(+4)-30(+3)) and 28(+5) (25(+6)-30(+3)), respectively (p = 0.182). Ri and Re were significantly lower in the 12 L/min compared to 8 L/min bias flow group [Ri: 29.6 (26.1-33.6) vs. 46.4 (43.0-54.1) cm H2O/L/s, p < 0.001; Re: 32.0 (30.0-35.1) vs. 48.0 (46.3-53.9) cm H2O/L/s, p < 0.001], while the incidence of EBM [77% (53-88) vs. 77% (58-90), p = 0.586] was similar. ConclusionDuring stabilisation of preterm infants at birth with a T-piece resuscitator, the use of a higher bias gas flow reduced both the imposed inspiratory and expiratory T-piece resistance for the infant, but this did not influence the incidence of EBMs. Show less
Liquid-based perinatal life support (PLS) technology will probably be applied in a first-in-human study within the next decade. Research and development of PLS technology should not only address... Show moreLiquid-based perinatal life support (PLS) technology will probably be applied in a first-in-human study within the next decade. Research and development of PLS technology should not only address technical issues, but also consider socio-ethical and legal aspects, its application area, and the corresponding design implications. This paper represents the consensus opinion of a group of healthcare professionals, designers, ethicists, researchers and patient representatives, who have expertise in tertiary obstetric and neonatal care, bio-ethics, experimental perinatal animal models for physiologic research, biomedical modeling, monitoring, and design. The aim of this paper is to provide a framework for research and development of PLS technology. These requirements are considering the possible respective user perspectives, with the aim to co-create a PLS system that facilitates physiological growth and development for extremely preterm born infants. Show less
Dongen, O.R.E.; Leeuwen, L.M. van; Groot, P.K. de; Vollebregt, K.; Schiering, I.; Wevers, B.A.; ... ; Houten, M.A. van 2021
Background: Up to 7% of neonates born in high-income countries receive antibiotics for suspected early-onset sepsis (EOS). Culture-proven neonatal sepsis has a prevalence of 0.2%, suggesting... Show moreBackground: Up to 7% of neonates born in high-income countries receive antibiotics for suspected early-onset sepsis (EOS). Culture-proven neonatal sepsis has a prevalence of 0.2%, suggesting considerable overtreatment. We studied the diagnostic accuracy of umbilical cord blood and infant blood procalcitonin (PCT) in diagnosing EOS to improve antibiotic stewardship.Methods: Umbilical cord blood PCT was tested in newborns >= 32 weeks of gestation. Groups were defined as following: A) culture-proven or probable EOS (n = 25); B) Possible EOS, based on risk factors for which antibiotics were administered for <72 h (n = 49); C) Risk factor(s) for EOS without need for antibiotic treatment (n = 181); D) Healthy controls (n = 74). Additionally, venous or capillary blood PCT and C-reactive protein (CRP) were tested if blood drawing was necessary for standard care.Results: Between June 2019 and March 2021, 329 newborns were included. Umbilical cord blood PCT was significantly higher in group A than in group C and D. No difference between venous or arterial samples was found. Sensitivity and specificity for cord blood procalcitonin were 83 and 62%, respectively (cut-off 0.1 ng/mL). Antepartum maternal antibiotic administration was associated with decreased PCT levels in both cord blood and infant blood directly postpartum in all groups combined.Conclusion: Umbilical cord blood PCT levels are increased in newborns >= 32 weeks with a proven or probable EOS and low in newborns with risk factors for infection, but PCT seems not a reliable marker after maternal antibiotic treatment. PCT could be useful to distinguish infected from healthy newborns with or without EOS risk factors. Show less
Verweij, E.J.; Proost, L. de; Laar, J.O.E.H. van; Frank, L.; Obermann-Borstn, S.A.; Vermeulen, M.J.; ... ; Kingma, E. 2021
In this paper we present an initial roadmap for the ethical development and eventual implementation of artificial amniotic sac and placenta technology in clinical practice. We consider four... Show moreIn this paper we present an initial roadmap for the ethical development and eventual implementation of artificial amniotic sac and placenta technology in clinical practice. We consider four elements of attention: (1) framing and societal dialogue; (2) value sensitive design, (3) research ethics and (4) ethical and legal research resulting in the development of an adequate moral and legal framework. Attention to all elements is a necessary requirement for ethically responsible development of this technology. The first element concerns the importance of framing and societal dialogue. This should involve all relevant stakeholders as well as the general public. We also identify the need to consider carefully the use of terminology and how this influences the understanding of the technology. Second, we elaborate on value sensitive design: the technology should be designed based upon the principles and values that emerge in the first step: societal dialogue. Third, research ethics deserves attention: for proceeding with first-in-human research with the technology, the process of recruiting and counseling eventual study participants and assuring their informed consent deserves careful attention. Fourth, ethical and legal research should concern the status of the subject in the AAPT. An eventual robust moral and legal framework for developing and implementing the technology in a research setting should combine all previous elements. With this roadmap, we emphasize the importance of stakeholder engagement throughout the process of developing and implementing the technology; this will contribute to ethically and responsibly innovating health care. Show less
Background: Preterm infants are commonly supported with 5-8 cmH(2)O CPAP. However, animal studies demonstrate that high initial CPAP levels (12-15 cmH(2)O) which are then reduced (termed... Show moreBackground: Preterm infants are commonly supported with 5-8 cmH(2)O CPAP. However, animal studies demonstrate that high initial CPAP levels (12-15 cmH(2)O) which are then reduced (termed physiological based (PB)-CPAP), improve lung aeration without adversely affecting cardiovascular function. We investigated the feasibility of PB-CPAP and the effect in preterm infants at birth.Methods: Preterm infants (24-30 weeks gestation) were randomized to PB-CPAP or 5-8 cmH(2)O CPAP for the first 10 min after birth. PB-CPAP consisted of 15 cmH(2)O CPAP that was decreased when infants were stabilized (heart rate >= 100 bpm, SpO(2) >= 85%, FiO(2) <= 0.4, spontaneous breathing) to 8 cmH(2)O with steps of ~2/3 cmH(2)O/min. Primary outcomes were feasibility and SpO(2) in the first 5 min after birth. Secondary outcomes included physiological and breathing parameters and short-term neonatal outcomes. Planned enrollment was 42 infants.Results: The trial was stopped after enrolling 31 infants due to a low inclusion rate and recent changes in the local resuscitation guideline that conflict with the study protocol. Measurements were available for analysis in 28 infants (PB-CPAP n = 8, 5-8 cmH(2)O n = 20). Protocol deviations in the PB-CPAP group included one infant receiving 3 inflations with 15 cmH(2)O PEEP and two infants in which CPAP levels were decreased faster than described in the study protocol. In the 5-8 cmH(2)O CPAP group, three infants received 4, 10, and 12 cmH(2)O CPAP. During evaluations, caregivers indicated that the current PB-CPAP protocol was difficult to execute. The SpO(2) in the first 5 min after birth was not different [61 (49-70) vs. 64 (47-74), p = 0.973]. However, infants receiving PB-CPAP achieved higher heart rates [121 (111-130) vs. 97 (82-119) bpm, p = 0.016] and duration of mask ventilation was shorter [0:42 (0:34-2:22) vs. 2:58 (1:36-6:03) min, p = 0.020]. Infants in the PB-CPAP group required 6:36 (5:49-11:03) min to stabilize, compared to 9:57 (6:58-15:06) min in the 5-8 cmH2O CPAP group (p = 0.256). There were no differences in short-term outcomes.Conclusion: Stabilization of preterm infants with PB-CPAP is feasible but tailoring CPAP appeared challenging. PB-CPAP did not lead to higher SpO(2) but increased heart rate and shortened the duration of mask ventilation, which may reflect faster lung aeration. Show less
Background: It has been suggested that children and infants can develop multisystem inflammatory syndrome in children (MIS-C) in response to a SARS-CoV-2 infection and that Black children are... Show moreBackground: It has been suggested that children and infants can develop multisystem inflammatory syndrome in children (MIS-C) in response to a SARS-CoV-2 infection and that Black children are overrepresented among cases. The aim of the current study was to quantify the association between Black, Asian, or other non-White genetic background and COVID-19-related MIS-C in children and infants.Methods: Eight different research groups contributed cases of MIS-C, potentially related to SARS-CoV-2 infection. Several sensitivity analyses were performed, including additional data available from the literature. Analyses were stratified by geographical region.Results: Seventy-three cases from nine distinct geographical regions were included in the primary analyses. In comparison to White children, the relative risk for developing MIS-C after SARS-CoV-2 infection was 15 [95% confidence interval (CI): 7.1 to 32] for Black children, 11 (CI: 2.2 to 57) for Asian, and 1.6 (CI: 0.58 to 4.2) for other ethnic background.Conclusion: Pediatricians should be aware of the fact that the risk of COVID-19-related MIS-C is severely increased in Black children. Show less
The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence... Show moreThe timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life. Show less
Mekelenkamp, H.; Zanten, H. van; Vries, M. de; Lankester, A.; Smiers, F.; SCORE Consortium 2021
Hematopoietic stem cell transplantation decision-making for hemoglobinopathy patients is a complex process, and it remains difficult for health care professionals to decide whether and when a... Show moreHematopoietic stem cell transplantation decision-making for hemoglobinopathy patients is a complex process, and it remains difficult for health care professionals to decide whether and when a hematopoietic stem cell transplantation should be offered. Gaining insight into health care professionals' considerations is required to understand and optimize this decision-making process. A qualitative interview study using semi-structured interviews with eighteen health care professionals. Data were thematically analyzed. Two main themes emerged from the data: (1) Experiencing the influence of a frame of reference and (2) Feeling responsible for a guided decision-making. The frame of reference, meaning the health care professionals' knowledge and experiences regarding hematopoietic stem cell transplantation, influenced the guided decision-making process. Subsequently, three subthemes evolved from the second theme: (a) weighing up disease severity against possible complications, (b) making an effort to inform, and (c) supporting the best fitting decision for the individual patient. The health care professionals' frame of reference determined the hematopoietic stem cell transplantation decision-making process. This demands reflection on the health care professionals' own frame of reference and its influence on decision-making. Furthermore, reflection on the frame of reference is needed by exchange of knowledge and experiences between referring and referred-to healthcare professionals in an open and two-way direction. The transplantation teams have a responsibility of keeping the frame of reference of their referring colleagues up to date and referring health care professionals should share their feelings regarding hematopoietic stem cell transplantation. To guide patients, a shared decision-making approach is supportive, in which eliciting the patients' preferences is highly important. Health care professionals can refine the decision-making process by guiding patients in eliciting their preferences and including these in the decision. Show less
