Determinants of Congenital Heart Defects Screening Among Children with Down Syndrome in Rwanda: A Qualitative Study

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Although screening for CHDs in children with DS is recommended within the first six weeks of life, many children experience delays or are not screened at all. Globally, research on the determinants of CHD screening uptake among children with DS is scarce, and to the best of our knowledge, no such study was previously conducted in Rwanda. This knowledge gap limits the development of targeted interventions, highlighting the need to explore the determinants of CHD screening uptake among children with DS in Rwanda. Methods A descriptive qualitative study was conducted in four Rwandan hospitals: two referral hospitals providing specialized genetic and cardiac care services, and two district hospitals collaborating with a non-governmental organization that supports children with DS. Data were collected through four focus group discussions with 40 community health workers and individual in-depth interviews with 12 nurses and 9 parents, all recruited using purposive sampling. Inductive thematic analysis was conducted using ATLAS.ti version 22 software. Findings: Two main themes emerged from the interviews: (1) key drivers of parental decision making, including developmental concerns, guidance from healthcare providers, and peer support; and (2) barriers to screening uptake, such as limited parenteral awareness and health literacy, cultural beliefs, family conflicts, stigma, financial constraints, shortage of cardiologists, and insufficient knowledge among healthcare providers. Conclusion The study identifies key areas for intervention to enhance CHD screening uptake among children with DS in Rwanda. Addressing the identified barriers through targeted community education, health system strengthening, and provider training may contribute to earlier diagnosis and improved health outcomes for these children. Children with Down syndrome Congenital heart defects screening Determinants of screening uptake Down syndrome BACKGROUND Down syndrome (DS) is the most prevalent genetic cause of intellectual disability worldwide. It is characterized by a wide range of clinical manifestations and complications, with congenital heart defects (CHDs) ranking among the most common complications [ 1 – 3 ]. The evidence has shown that CHDs affect around 50% of children with DS [ 4 – 7 ]. A systematic review and meta-analysis conducted in Saudi Arabia and Turkey revealed that the prevalence rates of CHDs among individuals with DS were 66.1% and 52.1% respectively [ 8 , 9 ], highlighting the pressing need for concerted efforts in CHDs diagnosis and treatment in children with DS. African countries face the similar challenge of high prevalence of CHDs and DS. A study conducted in Nigeria entitled “Spectrum of congenital heart diseases in children with DS at Usmanu Danfodiyo University Teaching Hospital, Sokoto” revealed that 78% of participants had CHDs [ 10 ], while a study conducted at Tikur Anbessa Specialized Hospital (TASH) in Ethiopia also revealed that 75.1% of participants had CHDs [ 11 ]. In Rwanda, CHDs are most prevalent in individuals with DS among other genetic disorders. Out of 89 patients with DS, CHDs were identified in 53 patients using an echocardiography, implying a prevalence of 59.55% [ 12 ]. Collectively, this emerging evidence underscores the high rate of CHDs in African countries and emphasizes the need for early screening of these conditions, which would facilitate the timely institution of possible management options. CHDs are the main reason for mortality among children with DS, particularly in developing countries [ 13 ]. Limited access to treatment further increases their risk, even though management needs are similar to those of children without DS. CHDs therefore represent the major determinant of early mortality in this population [ 13 , 14 ]. Early screening in childhood is both feasible and critical, and has been shown to reduce mortality by enabling timely diagnosis and intervention[ 15 – 19 ]. Another study reported that multiple factors, including delays in CHD screening, contribute to late initiation of timely treatment for children with DS and CHDs in developing countries [ 20 ], highlighting the need for early screening. Lagan and colleagues recommend that all children with DS undergo an echocardiogram for CHDs screening within the first six weeks of life, or preferably even earlier [ 21 ]. However, this practice is predominantly available in developed countries [ 16 , 22 ]. Despite these recommendations, delays in accessing screening services persist, particularly in developing countries. For instance, a study in Nigeria reported that the mean age at which children with DS presented for CHD screening was about 12 months, far beyond the recommended first six weeks of life, with none of the children diagnosed with CHD during the neonatal period[ 23 ]. This study identified several determinants of delayed CHD screening, including delivery outside of a healthcare setting, cultural beliefs, and poor health-seeking behavior of parents [ 23 ]. Similarly, a study conducted in Thailand highlighted additional determinants contributing to the limited uptake and delays in CHD screening among children with DS, such as poor documentation by healthcare providers, limited awareness among doctors regarding the high prevalence of associated anomalies, and a lack of information for parents about the need for ongoing monitoring from childhood into adulthood [ 24 ]. As a result, some parents or guardians may not have their children screened because they lack the knowledge needed to seek these services. Observations by the study team showed that children with DS were not consistently screened for CHDs in Rwanda, as recommended in the literature. It appears that many children were first brought to genetic consultation at an advanced age, often around five years or older. One study has identified contributing factors to inadequate and delayed CHD screening among children with DS in low-and-middle income countries, including chronic understaffing and financial constraints, with priority of care often given to children without DS [ 25 ]. Our literature review revealed a limited number of studies examining the determinants of inadequate and untimely screening for CHDs in children with DS, particularly within the WHO African Region, where Rwanda is located. This scarcity highlights a critical gap in existing literature, especially given the serious consequences of delayed CHD screening for this population. Without adequate research, understanding the determinants of CHD screening uptake remains limited. Addressing this gap is essential, as early screening can significantly improve treatment outcomes and support informed decision-making by parents and caregivers. Therefore, this study aimed to explore the determinants of CHD screening among children with DS in Rwanda. METHODS Aim and design of the study This study aimed to explore the determinants of CHD screening among children with DS in Rwanda. A descriptive qualitative design was employed, as it allows for clear and direct descriptions of participants’ experiences and perceptions, particularly for topics that have not been extensively studied in nursing and health sciences [ 26 , 27 ]. Study setting This study was conducted in four selected hospitals in Rwanda. Two of them, the University Teaching Hospital of Kigali (CHUK) and the Rwanda Military Referral and Teaching Hospital (RMRTH), are located in Kigali City. They were selected because they are equipped with the necessary specialists and facilities to screen and manage CHDs in individuals with DS. The other two, Kirehe and Rwinkwavu District Hospitals in the Eastern Province, were selected because they have the Pediatric Development Clinic (PDC) program, initiated by a non-governmental organization, Partners In Health (PIH), that supports the provision of care for children with developmental disabilities, including those with DS. In this context, PIH facilitates periodic cardiologist visits to screen and manage CHDs in children with DS. Study population and sampling The study population consisted of parents or guardians of children with DS, community health workers (CHWs), and nurses. In this study, guardians are defined as individuals who assume the caregiving responsibilities of children with DS in the absence of their biological parents. All participants were recruited during visits to the hospitals serving as study sites. Parents/guardians were approached as they came for routine care, nurses were engaged during their regular duties, and CHWs were met during their scheduled visits to the hospitals as part of their routine activities. Nurses in pediatric departments were included due to their regular interactions with children with DS. Nurses were included because they spend more time with patients than other healthcare providers, which positions them as key informants regarding CHD screening practices[ 28 ]. Parents were targeted as primary caregivers and key sources of information about their children. CHWs were also involved, as they operate at the community level of Rwanda’s health system [ 29 ] and maintain close contact with families. Their occupation offers valuable insights into the uptake and barriers to CHD screening among children with DS. Rwanda’s healthcare system is organized hierarchically, starting at the community level with community health workers, followed by health posts and health centers, then district and provincial hospitals, and finally national referral and teaching hospitals [ 30 ]. Purposive sampling was employed to intentionally select participants relevant to the study’s objectives. Specifically, maximum variation sampling was used, a form of purposive sampling that helps to ensure diversity by including individuals with a wide range of characteristics and perspectives within the target population [ 31 , 32 ]. This was achieved by including CHWs from different regions, parents of various age groups and education levels, and nurses with differing years of pediatric experience. A total of 61 individuals participated in the study: 40 CHWs, 12 nurses and 9 parents of children with DS. The higher number of CHWs reflects data saturation reached after four FGDs, each composed of 10 CHWs, while parents and nurses were fewer because they were interviewed individually to provide in-depth perspectives, with their numbers also determined by saturation. Data collection methods and instruments Semi-structured interview guides, developed based on a literature review, were used for data collection. The guides consisted of six open-ended questions for CHWs, five open-ended questions for healthcare providers, and five open-ended questions for parents. Each question was accompanied by additional probing questions to facilitate deeper exploration of the participants’ perspectives. Examples of guiding questions included: “Would you please share with us your thoughts on the screening of congenital heart defects among children with Down syndrome?”, “What has been your observation about families seeking congenital heart defect screening services for their children with Down syndrome?”, and “What are your views on the determinants that influence the screening for congenital heart defects in children with Down syndrome in Rwanda?” Before final data collection, a pilot study was conducted involving individual in-depth interviews (IDIs) with two nurses and two parents, as well as a focus group discussion (FGD) with ten CHWs to refine the data collection tools. During final data collection, four FGDs of CHWs were conducted, each with 10 participants, while IDIs of 12 nurses and 9 parents of children with DS were conducted. The mixture of both FGDs and IDIs helped to take advantage of each method’s benefits. The FGD method with CHWs was beneficial, as it encouraged reserved participants to share their experiences, given their shared professional background. This aligns with existing literature highlighting that FGDs create authentic environments where participants influence one another, fostering group interaction and a synergy effect [ 33 ]. We selected 10 participants for each FGD to capture a range of opinions while keeping the group manageable. Literature indicates that the number of participants per focus group ranges from 3 to 21, with a median of 10 [ 34 ], and most scholars recommend 8–12 participants as ideal to ensure diversity while maintaining manageable discussions [ 35 ]. Choosing 10 participants aligns with these guidelines, facilitating rich data collection and effective moderation. In contrast, IDIs were particularly beneficial for parents, enabling them to discuss their experiences and perspectives privately, reducing feelings of shame or trauma given the sensitive nature of DS. The literature indicates that IDIs yield richer, more nuanced data and a deeper understanding of sensitive topics [ 36 , 37 ], which is applicable to discussing issues related to DS. Similarly, individual interviews with nurses provided a confidential setting for them to express personal views without peer influence. Four FGDs with CHWs, 12 IDIs with nurses and 9 IDIs with parents of children with DS were conducted. The final number of FGDs and IDIs was guided by data saturation. Sociodemographic forms were completed prior to each FGD to confirm eligibility and collect sociodemographic information. Literature indicates that most empirical studies reach saturation with 9 to 17 in-depth interviews or 4 to 8 focus group discussions [ 38 ]. Each FGD and IDI session was facilitated by two data collectors, one male and one female, with one serving as the facilitator of the discussion, and the other as the note-taker. They both have experience of more than 10 years in the nursing domain, and more than 5 years of experience in qualitative data collection. No prior relationship existed between the data collectors and participants before the commencement of data collection. The discussions were conducted in Kinyarwanda, the local language that all participants could easily understand. The interview guide was translated from English to Kinyarwanda by two research team members with over 18 years of experience in nursing terminology. To ensure the accuracy of the translation, a back-translation process was employed, and no discrepancies were identified between the original and the back-translated versions. Data were collected over a three-month period, from February to April 2025. Each FGD lasted, on average, one hour and fifteen minutes, while each IDI averaged twenty minutes. No repeat interviews were conducted. Ethical considerations The research team obtained ethical approval from the University of Rwanda Institutional Review Board (Approval Notice: No 336/CMHS IRB/2024) and secured written permission from study sites. Participants were fully informed about the study, assured of voluntary participation, and allowed to withdraw at any time without consequences. Written informed consent was obtained for both participation in the study and audio recording of discussions. Interviews were conducted in private hospital rooms to ensure confidentiality, with only participants and data collectors present. Anonymity was preserved by using identification numbers and excluding personal identifiers from recordings. Trustworthiness of the study To enhance the trustworthiness of the study, the research team applied Lincoln and Guba’s criteria, namely credibility, transferability, dependability, and confirmability, as outlined by Sirwan Khalid Ahmed [ 39 ]. Credibility was ensured through prolonged engagement, allowing data collectors sufficient time in the field to build rapport and deeply understand participants’ perspectives. The team also practiced reflexivity by acknowledging potential subjectivity and positionality, such as assumptions about the socio-cultural determinants of CHD screening in children with DS. The methodological triangulation was achieved by employing multiple data collection methods, including IDIs and FGDs. For transferability, the researchers provided thick descriptions of the study context and clearly explained their sampling strategies to help readers judge the applicability of findings to other settings. Dependability was addressed through careful documentation of procedures to capture methodological and analytical decisions. Confirmability was strengthened through peer debriefing with experienced qualitative researchers who were not involved in the initial data collection or analysis. Data analysis The data were analyzed by the PhD candidate, who served as the principal investigator, using thematic analysis in ATLAS.ti version 22. Supervisors provided guidance and critical feedback throughout the analysis to enhance rigor and credibility. An inductive six-step thematic analysis approach, as developed by Braun and Clarke and outlined by David Byrne[ 40 ], was followed: Step 1. Familiarization: Repeated readings of all participant transcripts helped identify initial patterns and provided a foundation for developing the codebook. Step 2. Initial coding: Broad codes were generated covering key topics such as the link between DS and CHDs, community awareness, facilitators and barriers to screening uptake, and participant recommendations. Codes were then carefully reviewed and refined. Step 3. Theme generation: Related codes were grouped based on shared meanings, using an inductive approach where themes emerged from the data rather than being predetermined. Step 4. Theme review: Emerging themes and subthemes were reviewed for coherence and relevance; overlapping themes were merged and less relevant ones discarded, resulting in two main themes and ten subthemes. Step 5. Defining and labeling themes: Themes and subthemes were clearly defined and labeled to reflect the study objectives, with supporting data extracts assigned to each. Step 6. Reporting: A comprehensive findings report was produced, organized around the identified themes and subthemes, and revised multiple times in preparation for manuscript submission. FINDINGS This section will present the key findings of the study. Participants’ characteristics Table 1 presents the characteristics of the participants. Most were aged between 41 and 50 years (n = 28), female (n = 36), had completed primary education (n = 22), were married (n = 40), and were community health workers (n = 40). Table 1 Participants’ characteristics (N = 61) Participants characteristics n Age of participants (years) 20–30 7 31–40 10 41–50 28 51–60 11 61 and over 5 Gender Male 25 Female 36 Level of education No formal education 1 Primary 22 Secondary 17 TVET* 7 University 14 Marital status Single 14 Married 40 Divorced/Separated 1 Cohabitant 3 Widowed 3 Type of participants Nurses 12 CHWs* 40 Parents/Guardians 9 *CHWs: Community Health Workers *TVET: Technical and Vocational Education and Training Emergent themes on determinants of CHD screening uptake among children with Down Syndrome in Rwanda Two overarching themes emerged from thematic analysis: Theme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome; and Theme two: Barriers to CHD screening uptake in children with Down Syndrome. The emerging themes and corresponding subthemes are depicted in Table 2 . Table 2 Emerging themes and subthemes identified in the study Themes Subthemes Theme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome Perceived illness and developmental concerns Guidance and influence from healthcare providers Peer influence and shared parental experiences Theme two: Barriers to CHD screening uptake in children with Down Syndrome Limited awareness and health literacy Cultural and traditional influences on health-seeking behavior Family conflicts Stigma and shame Financial constraints Shortage of cardiologists Limited healthcare providers knowledge about DS Theme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome The first theme consists of facilitating factors and motivations for participants to seek CHD screening services for their children with DS. It reflects the reasons and circumstances that encourage parents and guardians to pursue screening. The theme highlights the influences and considerations shaping participants’ decisions to access these services. It encompasses three subthemes: (1) Perceived illness and developmental concerns; (2) Guidance and influence from healthcare providers; and (3) Peer influence and shared parental experiences. Perceived illness and developmental concerns Findings from this study revealed that delayed developmental milestones and symptoms suggestive of other illnesses potentially linked to heart conditions were the primary reasons parents sought CHD screening services. Instead of proactively pursuing screening for CHDs in their children with DS, parents were often driven to seek medical attention due to persistent health issues or developmental delays. In some cases, CHD screening was carried out during these general health consultations “ Another thing I have noticed that prompts parents to seek medical screening is when they see their child not gaining weight. For example, if the child is breastfeeding under 6 months but remains underweight, and even when they start supplementary feeding there is still no improvement. That can motivate a parent to go and seek screening to understand what is hindering their child’s growth .” FGD, CHWs, District hospital 2, Participant 10 “ Usually, they go when the child has persistent symptoms, but they do not know what disease they are checking for. Then a doctor with expertise might recognize it and say: ‘This child has heart disease .’” FGD, CHWs, District hospital 2, Participant 2 Guidance and influence from healthcare providers The findings from the study indicated that some parents sought CHD screening based on the guidance of healthcare providers, rather than through their own initiative. Participants explained that parents are often advised to pursue CHD screening, particularly when they give birth in healthcare facilities or interact with knowledgeable providers during follow-up visits. “… If the child is born with unusual health conditions, they get monitored. So, I would say medical staff play a big role in CHD screening because follow-up appointments help keep track. The ones who face greater challenge are those not born in hospitals .” FGD, CHWs, District Hospital 2, Participant 6 “ Often parents do not know. So, the parent does not initiate the screening, it is triggered by the doctor who discovers the condition. The parent would not say, ‘My child has Down syndrome, let me go see a heart doctor.’” IDI, Referral hospital 2, Nurse 1 Peer influence and shared parental experiences Some participants expressed that parents may be motivated to seek CHD screening services after interacting with other parents, particularly those who have experienced similar challenges, such as raising children with disabilities. “ Some are first-time parents who do not know what is normal or abnormal. They often say that other parents told them something is not right .” IDI, District hospital 1, Nurse 1 “ A woman who had also given birth to a child who was already six years old is the one who advised me. She advised me to go to the health center and ask for a transfer to go to the hospital .” IDI, Referral hospital 1, Parent 1 Theme two: Barriers to CHD screening uptake in children with Down Syndrome The second theme covered the barriers that prevent parents from seeking CHD screening services for children with DS. It reflects the challenges and obstacles that hinder parents and guardians from accessing CHD screening. The theme highlights the factors restricting the uptake of these services. It encompasses the following subthemes: (1) Limited awareness and health literacy; (2) Cultural and traditional influences on health-seeking behavior; (3) Family conflicts; (4) Stigma and shame; (5) Financial constraints; (6) Shortage of cardiologists; (7) Limited healthcare providers knowledge about DS. Limited awareness and health literacy Many participants pointed out that limited awareness and information about DS contribute to low attendance for CHD screening among these children. “.. The reason I say it is difficult for parents to act on their own and seek CHD screening services is that many of them do not even have information about Down syndrome itself. Today, if we are being honest, the community does not really know Down syndrome .” IDI, Referral hospital 2, Nurse 2 “ No one really knows when to start screening the child, because they do not know what illness they have. If they are lucky enough to go to the hospital, doctors are the ones who discover it .” FGD, CHWs, Referral Hospital 2, Participant 9 Cultural and traditional influences on health-seeking behavior The findings from the study indicated that some parents and families do not seek CHD screening services because of traditional and cultural beliefs where some consider DS itself as bewitchment that requires management by traditional medicine. "Parents do not quickly take their children with DS for CHD screening. Most of the time, they remain in confusion, saying, 'We were bewitched,' and first go to traditional healers for treatment of witchcraft; that delays proper medical care." FGD, CHWs, District hospital 1, Participant 5 “A barrier I wanted to mention is traditional healers. In rural areas, they approach families and claim to treat such conditions and often it is just for profit. Ignorant villagers fall for it and turn to traditional healing instead of proper medical screening .” FGD, CHWs, District hospital 2, Participant 1 “ These children are seen as somehow connected to community misfortune or interpreted through traditional beliefs. Parents first try traditional remedies to see if they can get help. It is only once they see the situation worsening that they seek CHD screening services .” IDI, District hospital 2, Nurse 1 Family conflicts The findings of the study revealed that family conflicts may result from having a child with DS, which can impact CHD screening services, as family members may blame each other, particularly with the male partner insisting that the condition originated from the female partner’s family. “ Another thing I see is that families who have a child with this DS often experience conflict and disagreement. One says, ‘We do not give birth to children like that,’ or, ‘We do not give birth to fools; those come from your family .’” FGD, District hospital 1, Participant 5 “ In some families, when a child is born with such condition, the parents may disagree. The husband and wife may argue, and the child ends up neglected. Some say, “In our family, we do not have disabilities.” The child may not get to the hospital when they should .” IDI, District hospital 1, Parent 3 Stigma and shame The findings from participants revealed that stigma and shame contribute to the low attendance of parents at CHD screening services for children with DS. Some parents expressed fear of being judged by the community, which discouraged them from seeking timely medical care and hiding their children. “…. The first barrier is shame. Because shame begins in a situation where people go to visit someone who gave birth and start talking about the child, saying things like “Did you know so-and-so gave birth to a disabled child?” Another person returns and says, “Did you know they gave birth to a fool?” As such talk spreads, the parent starts feeling embarrassed and begins hiding their child .” FGD, CHWs, District hospital 1, Participant 6 “Some parents isolate themselves after learning their child has a disability of Down syndrome. They feel ashamed and avoid others.” IDI, District hospital 2, Parent 2 Financial constraints Another barrier highlighted by participants was poverty. They explained that managing the condition often required specialized care and repeated visits to referral hospitals, which many could not afford. As a result, some parents ended up not seeking screening services. “ Poverty is often the biggest issue. You may have parents in conflict and that conflict could lead to financial hardship. A mother may be left to fend for herself after her husband leaves. We do see mothers coming in alone to seek care for their children. In that situation, poverty becomes the real obstacle .” IDI, Referral hospital 2, Nurse 4 “ Another problem is poverty. These children need many services and frequent medical attention, but lack of money prevents the families from reaching where care is offered .” IDI, District hospital 2, Nurse 1 Shortage of cardiologists The study findings revealed shortage of cardiologists who perform screening of CHDs in children with DS. Specialized cardiac services are offered at referral hospitals, which are few in the country and primarily focused on managing in-patients and referred cases from lower-level health facilities. “ Heart screening services and specialist doctors are not sufficient. On cardiologist consultation days, we see so many ambulances from district hospitals parked here at the referral hospital. Clearly, the cardiologists in Rwanda are very few. Another thing I see as a barrier, adequate services are not always accessible .” IDI, Referral hospital 2, Nurse 1 “ …..the second challenge is lack of access to health care where and when it is needed. Children with DS do not receive timely care. For example, the person who was supposed to help might only reach a general practitioner (GP), and the GP refers them, but they do not reach the cardiologist.” IDI, District hospital 2, Nurse 1 Limited healthcare providers knowledge about DS The findings from this study revealed that some healthcare providers, despite being expected to encourage or initiate CHD screening, may have limited knowledge about DS and therefore do not initiate the screening process. This is mainly because DS is a rare condition that requires continuous refresher training or consistent clinical exposure. “…… Down syndrome is not a very common condition, it is not something you encounter all the time. If a provider has not seen it in a long time and has not obtained refresher training, they might not recognize it when they see it. Even providers may have limited knowledge .” IDI, Referral hospital 2, Nurse 2 “ We do not all have the same level of knowledge. Some nurses work at health centers, so they discharge the baby and send them home. We have had many such cases. The parent only brings the child later after noticing delays. Some of our colleague nurses are informed, but others are not .” IDI, District hospital 1, Nurse 1 DISCUSSION The objective of this study was to explore the determinants of CHD screening among children with DS. The findings were categorized into two main areas: (1) drivers of parental decision-making for CHD screening, and (2) barriers to the uptake of CHD screening in children with Down syndrome. Drivers of parental decision-making for CHD screening in children with Down Syndrome Perceived illness and developmental concerns emerged as one of the key drivers influencing parents' decisions to seek CHD screening for their children with DS. Many parents lacked sufficient knowledge to seek screening proactively and only sought medical care when noticeable signs or developmental delays appeared. This delay is concerning, as such symptoms often indicate advanced or complicated CHDs. As a result, screening is frequently postponed until the child’s health deteriorates, highlighting the need for improved parental education. These findings are consistent with existing literature indicating that caregivers often seek screening for CHDs only after noticeable symptoms such as fever, cough, or shortness of breath emerge. These symptoms are frequently mistaken for common illnesses like colds, resulting in significant delays in seeking appropriate care, sometimes lasting for years [ 41 ]. Additionally, some parents reported being prompted to pursue screening when their children failed to achieve expected developmental milestones, such as adequate weight gain[ 18 ]. The study findings also revealed that some parents were prompted to seek CHD screening services after interacting with knowledgeable healthcare providers or hearing experiences shared by other parents in similar situations. While this influence is valuable, it highlights that many parents do not initiate the decision independently. Ideally, communities should recognize that CHD screening in children with DS is a standard recommendation, not one that always requires external influence. This underscores the urgent need to equip parents with adequate knowledge and awareness so they can make decisions about CHD screening on their own. These findings align with previous research demonstrating that structured genetic counselling sessions provided by healthcare providers significantly improve parents’ knowledge and understanding of CHDs, as well as their confidence in seeking screening services [ 42 ]. They also resonate with findings from the study titled “Peer support among parents of children with congenital heart defects: A qualitative analysis of written responses submitted via an online survey,” which indicated that listening to peers’ stories offers parents valuable insights in their children’s conditions[ 43 ]. Given the scarcity of studies directly addressing influences on CHD screening in children with DS, these insights may also be relevant to understanding the role of healthcare providers and peer parents in encouraging families of children with DS to seek CHD screening services. Barriers to CHD screening uptake in children with Down Syndrome The findings of this study revealed several barriers to undertaking CHD screening among children with DS. Limited awareness and health literacy were among the barriers, as participants indicated they did not seek screening due to a lack of knowledge about its necessity, requirements, and benefits. This highlights the need to improve community awareness and health literacy on the importance of CHD screening to enhance timely uptake. These findings align with previous studies showing that health-seeking behaviors, including attendance to cardiac care services, are influenced by increased health awareness and literacy [ 41 , 44 ]. This is particularly applicable in the context of parents and caregivers of children with DS, who require adequate information and support to make informed decisions regarding CHD screening. The study findings also revealed that cultural and traditional influences prevent parents from seeking CHD screening in children with DS. This indicates an urgent need to engage communities through culturally sensitive education and awareness programs that address misconceptions and promote the importance of early CHD screening. Some cultural and traditional beliefs may negatively impact health-seeking behaviors, leading to delays or avoidance of timely screening. These findings are supported by existing literature, which shows that certain cultural and traditional factors contribute to poor health-seeking behavior, often due to the belief that traditional medicine is safer or more appropriate than conventional medicine [ 18 , 23 , 45 ]. This is a serious issue, as delays in seeking CHD screening can result in irreversible complications by the time of diagnosis, ultimately leading to poor health outcomes for affected children. Another barrier that participants reported is family conflict. In some cases, couples blamed each other for the birth of a child with DS, which discouraged them from seeking CHD screening. In more severe instances, one partner, often the father, abandoned the female partner. This is concerning because these conflicts significantly compromise the child’s access to essential care and support, as highlighted by Zhang et al. [ 46 ], who found that marital conflict and a lack of shared caregiving responsibilities negatively influenced care decisions for children with DS. This can definitely extend to the uptake of CHD screening. Similar patterns were also observed in a study on how mothers of a child with a genetic disorder experience their couple relationship in a low socio- economic setting [ 47 ], where male partners frequently abandoned their female partners. These findings from a low socio-economic context offer important insights to inform local interventions in Rwanda, given the country’s comparable status. Another barrier that participants reported is stigma and shame. Fear of judgment or negative cultural beliefs leads some families to hide their children or avoid healthcare services. This delays or prevents diagnosis and care, putting the child’s health at greater risk. Tackling stigma through community education is crucial to promote early screening and support. This is not unique to Rwanda, as studies have shown that stigma surrounding children with DS often leads families to hide them, thereby hindering or delaying access to quality healthcare, including screening services [ 25 , 48 , 49 ], which supports the findings of this study. This study also found that financial constraints limit access to CHD screening for children with DS. As in many developing countries, such barriers remain common and require community mobilization, increased enrollment in community-based health insurance that helps afford healthcare services in Rwanda, and support from both public and private organizations to assist vulnerable families. These findings align with a study in Indonesia, which showed that financial barriers contributed to delayed diagnosis and care of CHDs[ 18 ]. The similarity may reflect shared challenges in developing countries like Rwanda and Indonesia. The study findings revealed that a shortage of cardiologists hinders CHD screening in children with DS. In Rwanda, most cardiology services are concentrated in referral hospitals, making them largely inaccessible to many families. This underscores the urgent need to train more specialists in cardiology and progressively decentralize services to lower-level hospitals. Without these measures, late screening for CHDs in children with DS is likely to persist, resulting in adverse outcomes. These findings are supported by existing literature, which highlights both a shortage of pediatric cardiologists and a limited number of pediatric cardiac centers, many of which are located far from the general population [ 50 – 53 ]. Finally, the study revealed that limited knowledge about DS among healthcare providers contributes to delays in CHD screening. This has serious consequences, as early diagnosis, ideally within the first six weeks of life [ 21 ], is often missed, resulting in late detection or no screening at all. These findings highlight the urgent need to train healthcare providers on DS and its associated complications to ensure timely diagnosis and improve outcomes for affected children. This finding of poor knowledge about DS among healthcare providers is not new. A study conducted in Rwanda also revealed limited knowledge of DS among healthcare professionals [ 54 ], while a study conducted in Ghana reported limited knowledge among health workers regarding developmental disabilities, including DS [ 55 ]. In contrast, findings from a study in the United Arab Emirates showed a good level of knowledge about DS among future healthcare providers [ 56 ]. This difference may be attributed to the differing socioeconomic contexts of the two countries, with Rwanda being a developing country and the United Arab Emirates being a developed country. These differences may influence the knowledge in health topics among healthcare providers in these countries. STUDY STRENGTHS A major strength of this study is its originality. To the best of our knowledge, it is the first study in Rwanda to investigate the determinants of CHD screening among children with DS. Moreover, global research in this area remains extremely limited, as existing evidence suggests that studies on DS are generally scarce [ 49 ]. This underscores the unique contribution of our work to literature and its potential to inform both national and global policy interventions, as well as guide future research. Methodologically, the study used FGDs and IDIs with a diverse range of participants, including parents/guardians, CHWs, and nurses. These strengths highlight the study’s unique contribution to the literature and its potential to inform policy and future research STUDY LIMITATIONS One limitation of this study is that the findings, while meaningful, may not be fully generalizable beyond the study participants, as the sample was limited to parents/guardians of children with DS, CHWs, and nurses. The study also did not include the perspectives of other key health providers, such as doctors or midwives. CONCLUSION This study explored the determinants of CHD screening among children with DS in Rwanda. Key drivers influencing parental decision-making included perceived illness and developmental concerns, guidance and influence from healthcare providers, and peer support through shared parental experiences. Conversely, several barriers were identified: limited awareness and health literacy; cultural and traditional influences on health-seeking behavior; family conflicts; stigma and shame; financial constraints; shortage of cardiologists; and insufficient knowledge about DS among healthcare providers. These findings highlight critical determinants influencing CHD screening, identifying key areas for intervention to ultimately improve health outcomes for children with DS in Rwanda. Abbreviations CHDs Congenital heart defects CMHS College of Medicine and Health Sciences CHWs Community health workers DS Down syndrome IRB Institutional Review Board TVET Technical and Vocational Education and Training Declarations Ethics approval and consent to participate This study involved human participants and received ethical approval from the Institutional Review Board of the University of Rwanda, College of Medicine and Health Sciences (Approval Notice: No 336/CMHS IRB/2024). All participants provided informed consent prior to their participation in the study. Consent for publication Not applicable Competing interests The authors declare that they have no competing interests. Funding This study was supported by funding from the ELMA project at the University of Rwanda. Author Contribution VB, PU, LM, GU, and DM had substantial contributions to the conception of the work and worked on all sections of the study. VB collected data. VB performed data analysis and wrote the original draft of the manuscript. PU, LM, GU, and DM supervised the data analysis and provided feedback throughout the process. PU, LM, GU, and DM reviewed the manuscript and approved the version for publication. PU, LM, GU, and DM did supervision. Acknowledgement We sincerely thank all the participants, including community health workers, nurses, and parents of children with DS, for generously sharing their time and insights, which were invaluable to this study.We also acknowledge the School of Nursing and Midwifery, College of Medicine and Health Sciences, University of Rwanda, for their facilitation and support in securing funding from the ELMA project for these study related activities. We acknowledge Mr. Emmanuel Munyaneza and Ms. Joselyne Rugema for their valuable contributions to data collection. We also thank Dr. Alice Muhayimana and Ms. Joselyne Rugema for their supportive input during the data analysis process, particularly through feedback and review that strengthened the rigor of the study. Data Availability The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request. References Hüls A, Costa ACS, Dierssen M, Baksh RA, Bargagna S, Baumer NT, et al. Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey. EClinicalMedicine. 2021;33. https://doi.org/10.1016/j.eclinm.2021.100769 . Ostermaier KK. Down syndrome: Management. 2021. https://www.uptodate.com/contents/down-syndrome-management#H4 Martínez-Espinosa RM, Vila MDM, García-Galbis MR. Evidences from clinical trials in down syndrome: Diet, exercise and body composition. Int J Environ Res Public Health. 2020;17:1–18. https://doi.org/10.3390/ijerph17124294 . 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It is characterized by a wide range of clinical manifestations and complications, with congenital heart defects (CHDs) ranking among the most common complications [\u003cspan additionalcitationids=\"CR2\" citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. The evidence has shown that CHDs affect around 50% of children with DS [\u003cspan additionalcitationids=\"CR5 CR6\" citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. A systematic review and meta-analysis conducted in Saudi Arabia and Turkey revealed that the prevalence rates of CHDs among individuals with DS were 66.1% and 52.1% respectively [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e], highlighting the pressing need for concerted efforts in CHDs diagnosis and treatment in children with DS.\u003c/p\u003e\u003cp\u003eAfrican countries face the similar challenge of high prevalence of CHDs and DS. A study conducted in Nigeria entitled \u0026ldquo;Spectrum of congenital heart diseases in children with DS at Usmanu Danfodiyo University Teaching Hospital, Sokoto\u0026rdquo; revealed that 78% of participants had CHDs [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e], while a study conducted at Tikur Anbessa Specialized Hospital (TASH) in Ethiopia also revealed that 75.1% of participants had CHDs [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eIn Rwanda, CHDs are most prevalent in individuals with DS among other genetic disorders. Out of 89 patients with DS, CHDs were identified in 53 patients using an echocardiography, implying a prevalence of 59.55% [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. Collectively, this emerging evidence underscores the high rate of CHDs in African countries and emphasizes the need for early screening of these conditions, which would facilitate the timely institution of possible management options.\u003c/p\u003e\u003cp\u003eCHDs are the main reason for mortality among children with DS, particularly in developing countries [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Limited access to treatment further increases their risk, even though management needs are similar to those of children without DS. CHDs therefore represent the major determinant of early mortality in this population [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e, \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. Early screening in childhood is both feasible and critical, and has been shown to reduce mortality by enabling timely diagnosis and intervention[\u003cspan additionalcitationids=\"CR16 CR17 CR18\" citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]. Another study reported that multiple factors, including delays in CHD screening, contribute to late initiation of timely treatment for children with DS and CHDs in developing countries [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e], highlighting the need for early screening.\u003c/p\u003e\u003cp\u003eLagan and colleagues recommend that all children with DS undergo an echocardiogram for CHDs screening within the first six weeks of life, or preferably even earlier [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]. However, this practice is predominantly available in developed countries [\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e, \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]. Despite these recommendations, delays in accessing screening services persist, particularly in developing countries. For instance, a study in Nigeria reported that the mean age at which children with DS presented for CHD screening was about 12 months, far beyond the recommended first six weeks of life, with none of the children diagnosed with CHD during the neonatal period[\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. This study identified several determinants of delayed CHD screening, including delivery outside of a healthcare setting, cultural beliefs, and poor health-seeking behavior of parents [\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. Similarly, a study conducted in Thailand highlighted additional determinants contributing to the limited uptake and delays in CHD screening among children with DS, such as poor documentation by healthcare providers, limited awareness among doctors regarding the high prevalence of associated anomalies, and a lack of information for parents about the need for ongoing monitoring from childhood into adulthood [\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]. As a result, some parents or guardians may not have their children screened because they lack the knowledge needed to seek these services.\u003c/p\u003e\u003cp\u003eObservations by the study team showed that children with DS were not consistently screened for CHDs in Rwanda, as recommended in the literature. It appears that many children were first brought to genetic consultation at an advanced age, often around five years or older. One study has identified contributing factors to inadequate and delayed CHD screening among children with DS in low-and-middle income countries, including chronic understaffing and financial constraints, with priority of care often given to children without DS [\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e].\u003c/p\u003e\u003cp\u003e Our literature review revealed a limited number of studies examining the determinants of inadequate and untimely screening for CHDs in children with DS, particularly within the WHO African Region, where Rwanda is located. This scarcity highlights a critical gap in existing literature, especially given the serious consequences of delayed CHD screening for this population. Without adequate research, understanding the determinants of CHD screening uptake remains limited. Addressing this gap is essential, as early screening can significantly improve treatment outcomes and support informed decision-making by parents and caregivers. Therefore, this study aimed to explore the determinants of CHD screening among children with DS in Rwanda.\u003c/p\u003e"},{"header":"METHODS","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\u003ch2\u003eAim and design of the study\u003c/h2\u003e\u003cp\u003eThis study aimed to explore the determinants of CHD screening among children with DS in Rwanda. A descriptive qualitative design was employed, as it allows for clear and direct descriptions of participants\u0026rsquo; experiences and perceptions, particularly for topics that have not been extensively studied in nursing and health sciences [\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e].\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eStudy setting\u003c/h3\u003e\n\u003cp\u003eThis study was conducted in four selected hospitals in Rwanda. Two of them, the University Teaching Hospital of Kigali (CHUK) and the Rwanda Military Referral and Teaching Hospital (RMRTH), are located in Kigali City. They were selected because they are equipped with the necessary specialists and facilities to screen and manage CHDs in individuals with DS.\u003c/p\u003e\u003cp\u003e The other two, Kirehe and Rwinkwavu District Hospitals in the Eastern Province, were selected because they have the Pediatric Development Clinic (PDC) program, initiated by a non-governmental organization, Partners In Health (PIH), that supports the provision of care for children with developmental disabilities, including those with DS. In this context, PIH facilitates periodic cardiologist visits to screen and manage CHDs in children with DS.\u003c/p\u003e\n\u003ch3\u003eStudy population and sampling\u003c/h3\u003e\n\u003cp\u003eThe study population consisted of parents or guardians of children with DS, community health workers (CHWs), and nurses. In this study, guardians are defined as individuals who assume the caregiving responsibilities of children with DS in the absence of their biological parents. All participants were recruited during visits to the hospitals serving as study sites. Parents/guardians were approached as they came for routine care, nurses were engaged during their regular duties, and CHWs were met during their scheduled visits to the hospitals as part of their routine activities.\u003c/p\u003e\u003cp\u003eNurses in pediatric departments were included due to their regular interactions with children with DS. Nurses were included because they spend more time with patients than other healthcare providers, which positions them as key informants regarding CHD screening practices[\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e]. Parents were targeted as primary caregivers and key sources of information about their children. CHWs were also involved, as they operate at the community level of Rwanda\u0026rsquo;s health system [\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e] and maintain close contact with families. Their occupation offers valuable insights into the uptake and barriers to CHD screening among children with DS. Rwanda\u0026rsquo;s healthcare system is organized hierarchically, starting at the community level with community health workers, followed by health posts and health centers, then district and provincial hospitals, and finally national referral and teaching hospitals [\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e].\u003c/p\u003e\u003cp\u003ePurposive sampling was employed to intentionally select participants relevant to the study\u0026rsquo;s objectives. Specifically, maximum variation sampling was used, a form of purposive sampling that helps to ensure diversity by including individuals with a wide range of characteristics and perspectives within the target population [\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e, \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e]. This was achieved by including CHWs from different regions, parents of various age groups and education levels, and nurses with differing years of pediatric experience. A total of 61 individuals participated in the study: 40 CHWs, 12 nurses and 9 parents of children with DS. The higher number of CHWs reflects data saturation reached after four FGDs, each composed of 10 CHWs, while parents and nurses were fewer because they were interviewed individually to provide in-depth perspectives, with their numbers also determined by saturation.\u003c/p\u003e\n\u003ch3\u003eData collection methods and instruments\u003c/h3\u003e\n\u003cp\u003eSemi-structured interview guides, developed based on a literature review, were used for data collection. The guides consisted of six open-ended questions for CHWs, five open-ended questions for healthcare providers, and five open-ended questions for parents. Each question was accompanied by additional probing questions to facilitate deeper exploration of the participants\u0026rsquo; perspectives. Examples of guiding questions included: \u0026ldquo;Would you please share with us your thoughts on the screening of congenital heart defects among children with Down syndrome?\u0026rdquo;, \u0026ldquo;What has been your observation about families seeking congenital heart defect screening services for their children with Down syndrome?\u0026rdquo;, and \u0026ldquo;What are your views on the determinants that influence the screening for congenital heart defects in children with Down syndrome in Rwanda?\u0026rdquo;\u003c/p\u003e\u003cp\u003eBefore final data collection, a pilot study was conducted involving individual in-depth interviews (IDIs) with two nurses and two parents, as well as a focus group discussion (FGD) with ten CHWs to refine the data collection tools. During final data collection, four FGDs of CHWs were conducted, each with 10 participants, while IDIs of 12 nurses and 9 parents of children with DS were conducted. The mixture of both FGDs and IDIs helped to take advantage of each method\u0026rsquo;s benefits. The FGD method with CHWs was beneficial, as it encouraged reserved participants to share their experiences, given their shared professional background. This aligns with existing literature highlighting that FGDs create authentic environments where participants influence one another, fostering group interaction and a synergy effect [\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]. We selected 10 participants for each FGD to capture a range of opinions while keeping the group manageable. Literature indicates that the number of participants per focus group ranges from 3 to 21, with a median of 10 [\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e], and most scholars recommend 8\u0026ndash;12 participants as ideal to ensure diversity while maintaining manageable discussions [\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e]. Choosing 10 participants aligns with these guidelines, facilitating rich data collection and effective moderation.\u003c/p\u003e\u003cp\u003eIn contrast, IDIs were particularly beneficial for parents, enabling them to discuss their experiences and perspectives privately, reducing feelings of shame or trauma given the sensitive nature of DS. The literature indicates that IDIs yield richer, more nuanced data and a deeper understanding of sensitive topics [\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e, \u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e], which is applicable to discussing issues related to DS. Similarly, individual interviews with nurses provided a confidential setting for them to express personal views without peer influence. Four FGDs with CHWs, 12 IDIs with nurses and 9 IDIs with parents of children with DS were conducted. The final number of FGDs and IDIs was guided by data saturation. Sociodemographic forms were completed prior to each FGD to confirm eligibility and collect sociodemographic information. Literature indicates that most empirical studies reach saturation with 9 to 17 in-depth interviews or 4 to 8 focus group discussions [\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eEach FGD and IDI session was facilitated by two data collectors, one male and one female, with one serving as the facilitator of the discussion, and the other as the note-taker. They both have experience of more than 10 years in the nursing domain, and more than 5 years of experience in qualitative data collection. No prior relationship existed between the data collectors and participants before the commencement of data collection. The discussions were conducted in Kinyarwanda, the local language that all participants could easily understand. The interview guide was translated from English to Kinyarwanda by two research team members with over 18 years of experience in nursing terminology. To ensure the accuracy of the translation, a back-translation process was employed, and no discrepancies were identified between the original and the back-translated versions.\u003c/p\u003e\u003cp\u003eData were collected over a three-month period, from February to April 2025. Each FGD lasted, on average, one hour and fifteen minutes, while each IDI averaged twenty minutes. No repeat interviews were conducted.\u003c/p\u003e\n\u003ch3\u003eEthical considerations\u003c/h3\u003e\n\u003cp\u003e The research team obtained ethical approval from the University of Rwanda Institutional Review Board (Approval Notice: No 336/CMHS IRB/2024) and secured written permission from study sites. Participants were fully informed about the study, assured of voluntary participation, and allowed to withdraw at any time without consequences. Written informed consent was obtained for both participation in the study and audio recording of discussions. Interviews were conducted in private hospital rooms to ensure confidentiality, with only participants and data collectors present. Anonymity was preserved by using identification numbers and excluding personal identifiers from recordings.\u003c/p\u003e\u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\u003ch2\u003eTrustworthiness of the study\u003c/h2\u003e\u003cp\u003eTo enhance the trustworthiness of the study, the research team applied Lincoln and Guba\u0026rsquo;s criteria, namely credibility, transferability, dependability, and confirmability, as outlined by Sirwan Khalid Ahmed [\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e]. Credibility was ensured through prolonged engagement, allowing data collectors sufficient time in the field to build rapport and deeply understand participants\u0026rsquo; perspectives. The team also practiced reflexivity by acknowledging potential subjectivity and positionality, such as assumptions about the socio-cultural determinants of CHD screening in children with DS. The methodological triangulation was achieved by employing multiple data collection methods, including IDIs and FGDs.\u003c/p\u003e\u003cp\u003eFor transferability, the researchers provided thick descriptions of the study context and clearly explained their sampling strategies to help readers judge the applicability of findings to other settings. Dependability was addressed through careful documentation of procedures to capture methodological and analytical decisions. Confirmability was strengthened through peer debriefing with experienced qualitative researchers who were not involved in the initial data collection or analysis.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec9\" class=\"Section2\"\u003e\u003ch2\u003eData analysis\u003c/h2\u003e\u003cp\u003eThe data were analyzed by the PhD candidate, who served as the principal investigator, using thematic analysis in ATLAS.ti version 22. Supervisors provided guidance and critical feedback throughout the analysis to enhance rigor and credibility. An inductive six-step thematic analysis approach, as developed by Braun and Clarke and outlined by David Byrne[\u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e], was followed:\u003c/p\u003e\u003cp\u003eStep 1. Familiarization: Repeated readings of all participant transcripts helped identify initial patterns and provided a foundation for developing the codebook.\u003c/p\u003e\u003cp\u003eStep 2. Initial coding: Broad codes were generated covering key topics such as the link between DS and CHDs, community awareness, facilitators and barriers to screening uptake, and participant recommendations. Codes were then carefully reviewed and refined.\u003c/p\u003e\u003cp\u003eStep 3. Theme generation: Related codes were grouped based on shared meanings, using an inductive approach where themes emerged from the data rather than being predetermined.\u003c/p\u003e\u003cp\u003eStep 4. Theme review: Emerging themes and subthemes were reviewed for coherence and relevance; overlapping themes were merged and less relevant ones discarded, resulting in two main themes and ten subthemes.\u003c/p\u003e\u003cp\u003eStep 5. Defining and labeling themes: Themes and subthemes were clearly defined and labeled to reflect the study objectives, with supporting data extracts assigned to each.\u003c/p\u003e\u003cp\u003eStep 6. Reporting: A comprehensive findings report was produced, organized around the identified themes and subthemes, and revised multiple times in preparation for manuscript submission.\u003c/p\u003e\u003c/div\u003e"},{"header":"FINDINGS","content":"\u003cp\u003eThis section will present the key findings of the study.\u003c/p\u003e\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\u003ch2\u003eParticipants\u0026rsquo; characteristics\u003c/h2\u003e\u003cp\u003eTable\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e presents the characteristics of the participants. Most were aged between 41 and 50 years (n\u0026thinsp;=\u0026thinsp;28), female (n\u0026thinsp;=\u0026thinsp;36), had completed primary education (n\u0026thinsp;=\u0026thinsp;22), were married (n\u0026thinsp;=\u0026thinsp;40), and were community health workers (n\u0026thinsp;=\u0026thinsp;40).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eParticipants\u0026rsquo; characteristics (N\u0026thinsp;=\u0026thinsp;61)\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"2\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u003cp\u003eParticipants characteristics\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003en\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u003cp\u003eAge of participants (years)\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e20\u0026ndash;30\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e31\u0026ndash;40\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e10\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e41\u0026ndash;50\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e28\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e51\u0026ndash;60\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e11\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e61 and over\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eGender\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMale\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e25\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eFemale\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e36\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eLevel of education\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo formal education\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePrimary\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e22\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSecondary\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e17\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTVET*\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eUniversity\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e14\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eMarital status\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSingle\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e14\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMarried\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e40\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eDivorced/Separated\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eCohabitant\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eWidowed\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eType of participants\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNurses\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e12\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eCHWs*\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e40\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eParents/Guardians\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e9\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e*CHWs: Community Health Workers\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"2\" nameend=\"c2\" namest=\"c1\"\u003e\u003cp\u003e*TVET: Technical and Vocational Education and Training\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec12\" class=\"Section2\"\u003e\u003ch2\u003eEmergent themes on determinants of CHD screening uptake among children with Down Syndrome in Rwanda\u003c/h2\u003e\u003cp\u003eTwo overarching themes emerged from thematic analysis: Theme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome; and Theme two: Barriers to CHD screening uptake in children with Down Syndrome. The emerging themes and corresponding subthemes are depicted in Table \u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e.\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eEmerging themes and subthemes identified in the study\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"2\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u003cp\u003eThemes\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eSubthemes\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\" morerows=\"2\" rowspan=\"3\"\u003e\u003cp\u003eTheme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ePerceived illness and developmental concerns\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eGuidance and influence from healthcare providers\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ePeer influence and shared parental experiences\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\" morerows=\"6\" rowspan=\"7\"\u003e\u003cp\u003eTheme two: Barriers to CHD screening uptake in children with Down Syndrome\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eLimited awareness and health literacy\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCultural and traditional influences on health-seeking behavior\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eFamily conflicts\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eStigma and shame\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eFinancial constraints\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eShortage of cardiologists\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eLimited healthcare providers knowledge about DS\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec13\" class=\"Section2\"\u003e\u003ch2\u003eTheme one: Drivers of parental decision-making for CHD screening in children with Down Syndrome\u003c/h2\u003e\u003cp\u003e The first theme consists of facilitating factors and motivations for participants to seek CHD screening services for their children with DS. It reflects the reasons and circumstances that encourage parents and guardians to pursue screening. The theme highlights the influences and considerations shaping participants\u0026rsquo; decisions to access these services. It encompasses three subthemes: (1) Perceived illness and developmental concerns; (2) Guidance and influence from healthcare providers; and (3) Peer influence and shared parental experiences.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec14\" class=\"Section2\"\u003e\u003ch2\u003ePerceived illness and developmental concerns\u003c/h2\u003e\u003cp\u003eFindings from this study revealed that delayed developmental milestones and symptoms suggestive of other illnesses potentially linked to heart conditions were the primary reasons parents sought CHD screening services. Instead of proactively pursuing screening for CHDs in their children with DS, parents were often driven to seek medical attention due to persistent health issues or developmental delays. In some cases, CHD screening was carried out during these general health consultations\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eAnother thing I have noticed that prompts parents to seek medical screening is when they see their child not gaining weight. For example, if the child is breastfeeding under 6 months but remains underweight, and even when they start supplementary feeding there is still no improvement. That can motivate a parent to go and seek screening to understand what is hindering their child\u0026rsquo;s growth\u003c/em\u003e.\u0026rdquo; \u003cb\u003eFGD, CHWs, District hospital 2, Participant 10\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eUsually, they go when the child has persistent symptoms, but they do not know what disease they are checking for. Then a doctor with expertise might recognize it and say: \u0026lsquo;This child has heart disease\u003c/em\u003e.\u0026rsquo;\u0026rdquo; \u003cb\u003eFGD, CHWs, District hospital 2, Participant 2\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec15\" class=\"Section2\"\u003e\u003ch2\u003eGuidance and influence from healthcare providers\u003c/h2\u003e\u003cp\u003e The findings from the study indicated that some parents sought CHD screening based on the guidance of healthcare providers, rather than through their own initiative. Participants explained that parents are often advised to pursue CHD screening, particularly when they give birth in healthcare facilities or interact with knowledgeable providers during follow-up visits.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u0026hellip;\u003cem\u003eIf the child is born with unusual health conditions, they get monitored. So, I would say medical staff play a big role in CHD screening because follow-up appointments help keep track. The ones who face greater challenge are those not born in hospitals\u003c/em\u003e.\u0026rdquo; \u003cb\u003eFGD, CHWs, District Hospital 2, Participant 6\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eOften parents do not know. So, the parent does not initiate the screening, it is triggered by the doctor who discovers the condition. The parent would not say, \u0026lsquo;My child has Down syndrome, let me go see a heart doctor.\u0026rsquo;\u0026rdquo;\u003c/em\u003e \u003cb\u003eIDI, Referral hospital 2, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec16\" class=\"Section2\"\u003e\u003ch2\u003ePeer influence and shared parental experiences\u003c/h2\u003e\u003cp\u003e Some participants expressed that parents may be motivated to seek CHD screening services after interacting with other parents, particularly those who have experienced similar challenges, such as raising children with disabilities.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eSome are first-time parents who do not know what is normal or abnormal. They often say that other parents told them something is not right\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, District hospital 1, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eA woman who had also given birth to a child who was already six years old is the one who advised me. She advised me to go to the health center and ask for a transfer to go to the hospital\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, Referral hospital 1, Parent 1\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec17\" class=\"Section2\"\u003e\u003ch2\u003eTheme two: Barriers to CHD screening uptake in children with Down Syndrome\u003c/h2\u003e\u003cp\u003e The second theme covered the barriers that prevent parents from seeking CHD screening services for children with DS. It reflects the challenges and obstacles that hinder parents and guardians from accessing CHD screening. The theme highlights the factors restricting the uptake of these services. It encompasses the following subthemes: (1) Limited awareness and health literacy; (2) Cultural and traditional influences on health-seeking behavior; (3) Family conflicts; (4) Stigma and shame; (5) Financial constraints; (6) Shortage of cardiologists; (7) Limited healthcare providers knowledge about DS.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec18\" class=\"Section2\"\u003e\u003ch2\u003eLimited awareness and health literacy\u003c/h2\u003e\u003cp\u003eMany participants pointed out that limited awareness and information about DS contribute to low attendance for CHD screening among these children.\u003c/p\u003e\u003cp\u003e\u0026ldquo;..\u003cem\u003eThe reason I say it is difficult for parents to act on their own and seek CHD screening services is that many of them do not even have information about Down syndrome itself. Today, if we are being honest, the community does not really know Down syndrome\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, Referral hospital 2, Nurse 2\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eNo one really knows when to start screening the child, because they do not know what illness they have. If they are lucky enough to go to the hospital, doctors are the ones who discover it\u003c/em\u003e.\u0026rdquo; \u003cb\u003eFGD, CHWs, Referral Hospital 2, Participant 9\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec19\" class=\"Section2\"\u003e\u003ch2\u003eCultural and traditional influences on health-seeking behavior\u003c/h2\u003e\u003cp\u003e The findings from the study indicated that some parents and families do not seek CHD screening services because of traditional and cultural beliefs where some consider DS itself as bewitchment that requires management by traditional medicine.\u003c/p\u003e\u003cp\u003e\u003cem\u003e \"Parents do not quickly take their children with DS for CHD screening. Most of the time, they remain in confusion, saying, 'We were bewitched,' and first go to traditional healers for treatment of witchcraft; that delays proper medical care.\"\u003c/em\u003e\u003cb\u003eFGD, CHWs, District hospital 1, Participant 5\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;A barrier I wanted to mention is traditional healers. In rural areas, they approach families and claim to treat such conditions and often it is just for profit. Ignorant villagers fall for it and turn to traditional healing instead of proper medical screening\u003c/em\u003e.\u0026rdquo; \u003cb\u003eFGD, CHWs, District hospital 2, Participant 1\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eThese children are seen as somehow connected to community misfortune or interpreted through traditional beliefs. Parents first try traditional remedies to see if they can get help. It is only once they see the situation worsening that they seek CHD screening services\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, District hospital 2, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec20\" class=\"Section2\"\u003e\u003ch2\u003eFamily conflicts\u003c/h2\u003e\u003cp\u003eThe findings of the study revealed that family conflicts may result from having a child with DS, which can impact CHD screening services, as family members may blame each other, particularly with the male partner insisting that the condition originated from the female partner\u0026rsquo;s family.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eAnother thing I see is that families who have a child with this DS often experience conflict and disagreement. One says, \u0026lsquo;We do not give birth to children like that,\u0026rsquo; or, \u0026lsquo;We do not give birth to fools; those come from your family\u003c/em\u003e.\u0026rsquo;\u0026rdquo; \u003cb\u003eFGD, District hospital 1, Participant 5\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eIn some families, when a child is born with such condition, the parents may disagree. The husband and wife may argue, and the child ends up neglected. Some say, \u0026ldquo;In our family, we do not have disabilities.\u0026rdquo; The child may not get to the hospital when they should\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, District hospital 1, Parent 3\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec21\" class=\"Section2\"\u003e\u003ch2\u003eStigma and shame\u003c/h2\u003e\u003cp\u003eThe findings from participants revealed that stigma and shame contribute to the low attendance of parents at CHD screening services for children with DS. Some parents expressed fear of being judged by the community, which discouraged them from seeking timely medical care and hiding their children.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u0026hellip;.\u003cem\u003eThe first barrier is shame. Because shame begins in a situation where people go to visit someone who gave birth and start talking about the child, saying things like \u0026ldquo;Did you know so-and-so gave birth to a disabled child?\u0026rdquo; Another person returns and says, \u0026ldquo;Did you know they gave birth to a fool?\u0026rdquo; As such talk spreads, the parent starts feeling embarrassed and begins hiding their child\u003c/em\u003e.\u0026rdquo; \u003cb\u003eFGD, CHWs, District hospital 1, Participant 6\u003c/b\u003e\u003c/p\u003e\u003cp\u003e \u0026ldquo;Some parents isolate themselves after learning their child has a disability of Down syndrome. They feel ashamed and avoid others.\u0026rdquo; \u003cb\u003eIDI, District hospital 2, Parent 2\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec22\" class=\"Section2\"\u003e\u003ch2\u003eFinancial constraints\u003c/h2\u003e\u003cp\u003eAnother barrier highlighted by participants was poverty. They explained that managing the condition often required specialized care and repeated visits to referral hospitals, which many could not afford. As a result, some parents ended up not seeking screening services.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003ePoverty is often the biggest issue. You may have parents in conflict and that conflict could lead to financial hardship. A mother may be left to fend for herself after her husband leaves. We do see mothers coming in alone to seek care for their children. In that situation, poverty becomes the real obstacle\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, Referral hospital 2, Nurse 4\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eAnother problem is poverty. These children need many services and frequent medical attention, but lack of money prevents the families from reaching where care is offered\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, District hospital 2, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003cdiv id=\"Sec23\" class=\"Section3\"\u003e\u003ch2\u003eShortage of cardiologists\u003c/h2\u003e\u003cp\u003eThe study findings revealed shortage of cardiologists who perform screening of CHDs in children with DS. Specialized cardiac services are offered at referral hospitals, which are few in the country and primarily focused on managing in-patients and referred cases from lower-level health facilities.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eHeart screening services and specialist doctors are not sufficient. On cardiologist consultation days, we see so many ambulances from district hospitals parked here at the referral hospital. Clearly, the cardiologists in Rwanda are very few. Another thing I see as a barrier, adequate services are not always accessible\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, Referral hospital 2, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003e\u0026hellip;..the second challenge is lack of access to health care where and when it is needed. Children with DS do not receive timely care. For example, the person who was supposed to help might only reach a general practitioner (GP), and the GP refers them, but they do not reach the cardiologist.\u0026rdquo;\u003c/em\u003e\u003cb\u003eIDI, District hospital 2, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv id=\"Sec24\" class=\"Section2\"\u003e\u003ch2\u003eLimited healthcare providers knowledge about DS\u003c/h2\u003e\u003cp\u003eThe findings from this study revealed that some healthcare providers, despite being expected to encourage or initiate CHD screening, may have limited knowledge about DS and therefore do not initiate the screening process. This is mainly because DS is a rare condition that requires continuous refresher training or consistent clinical exposure.\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u0026hellip;\u0026hellip; \u003cem\u003eDown syndrome is not a very common condition, it is not something you encounter all the time. If a provider has not seen it in a long time and has not obtained refresher training, they might not recognize it when they see it. Even providers may have limited knowledge\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, Referral hospital 2, Nurse 2\u003c/b\u003e\u003c/p\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eWe do not all have the same level of knowledge. Some nurses work at health centers, so they discharge the baby and send them home. We have had many such cases. The parent only brings the child later after noticing delays. Some of our colleague nurses are informed, but others are not\u003c/em\u003e.\u0026rdquo; \u003cb\u003eIDI, District hospital 1, Nurse 1\u003c/b\u003e\u003c/p\u003e\u003c/div\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eThe objective of this study was to explore the determinants of CHD screening among children with DS. The findings were categorized into two main areas: (1) drivers of parental decision-making for CHD screening, and (2) barriers to the uptake of CHD screening in children with Down syndrome.\u003c/p\u003e\u003cdiv id=\"Sec26\" class=\"Section2\"\u003e\u003ch2\u003eDrivers of parental decision-making for CHD screening in children with Down Syndrome\u003c/h2\u003e\u003cp\u003ePerceived illness and developmental concerns emerged as one of the key drivers influencing parents' decisions to seek CHD screening for their children with DS. Many parents lacked sufficient knowledge to seek screening proactively and only sought medical care when noticeable signs or developmental delays appeared. This delay is concerning, as such symptoms often indicate advanced or complicated CHDs. As a result, screening is frequently postponed until the child\u0026rsquo;s health deteriorates, highlighting the need for improved parental education.\u003c/p\u003e\u003cp\u003eThese findings are consistent with existing literature indicating that caregivers often seek screening for CHDs only after noticeable symptoms such as fever, cough, or shortness of breath emerge. These symptoms are frequently mistaken for common illnesses like colds, resulting in significant delays in seeking appropriate care, sometimes lasting for years [\u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e]. Additionally, some parents reported being prompted to pursue screening when their children failed to achieve expected developmental milestones, such as adequate weight gain[\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e].\u003c/p\u003e\u003cp\u003e The study findings also revealed that some parents were prompted to seek CHD screening services after interacting with knowledgeable healthcare providers or hearing experiences shared by other parents in similar situations. While this influence is valuable, it highlights that many parents do not initiate the decision independently. Ideally, communities should recognize that CHD screening in children with DS is a standard recommendation, not one that always requires external influence. This underscores the urgent need to equip parents with adequate knowledge and awareness so they can make decisions about CHD screening on their own.\u003c/p\u003e\u003cp\u003eThese findings align with previous research demonstrating that structured genetic counselling sessions provided by healthcare providers significantly improve parents\u0026rsquo; knowledge and understanding of CHDs, as well as their confidence in seeking screening services [\u003cspan citationid=\"CR42\" class=\"CitationRef\"\u003e42\u003c/span\u003e]. They also resonate with findings from the study titled \u0026ldquo;Peer support among parents of children with congenital heart defects: A qualitative analysis of written responses submitted via an online survey,\u0026rdquo; which indicated that listening to peers\u0026rsquo; stories offers parents valuable insights in their children\u0026rsquo;s conditions[\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e]. Given the scarcity of studies directly addressing influences on CHD screening in children with DS, these insights may also be relevant to understanding the role of healthcare providers and peer parents in encouraging families of children with DS to seek CHD screening services.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec27\" class=\"Section2\"\u003e\u003ch2\u003eBarriers to CHD screening uptake in children with Down Syndrome\u003c/h2\u003e\u003cp\u003eThe findings of this study revealed several barriers to undertaking CHD screening among children with DS. Limited awareness and health literacy were among the barriers, as participants indicated they did not seek screening due to a lack of knowledge about its necessity, requirements, and benefits. This highlights the need to improve community awareness and health literacy on the importance of CHD screening to enhance timely uptake. These findings align with previous studies showing that health-seeking behaviors, including attendance to cardiac care services, are influenced by increased health awareness and literacy [\u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e, \u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e44\u003c/span\u003e]. This is particularly applicable in the context of parents and caregivers of children with DS, who require adequate information and support to make informed decisions regarding CHD screening.\u003c/p\u003e\u003cp\u003eThe study findings also revealed that cultural and traditional influences prevent parents from seeking CHD screening in children with DS. This indicates an urgent need to engage communities through culturally sensitive education and awareness programs that address misconceptions and promote the importance of early CHD screening. Some cultural and traditional beliefs may negatively impact health-seeking behaviors, leading to delays or avoidance of timely screening. These findings are supported by existing literature, which shows that certain cultural and traditional factors contribute to poor health-seeking behavior, often due to the belief that traditional medicine is safer or more appropriate than conventional medicine [\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e, \u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e, \u003cspan citationid=\"CR45\" class=\"CitationRef\"\u003e45\u003c/span\u003e]. This is a serious issue, as delays in seeking CHD screening can result in irreversible complications by the time of diagnosis, ultimately leading to poor health outcomes for affected children.\u003c/p\u003e\u003cp\u003eAnother barrier that participants reported is family conflict. In some cases, couples blamed each other for the birth of a child with DS, which discouraged them from seeking CHD screening. In more severe instances, one partner, often the father, abandoned the female partner. This is concerning because these conflicts significantly compromise the child\u0026rsquo;s access to essential care and support, as highlighted by Zhang et al. [\u003cspan citationid=\"CR46\" class=\"CitationRef\"\u003e46\u003c/span\u003e], who found that marital conflict and a lack of shared caregiving responsibilities negatively influenced care decisions for children with DS. This can definitely extend to the uptake of CHD screening. Similar patterns were also observed in a study on how mothers of a child with a genetic disorder experience their couple relationship in a low socio- economic setting [\u003cspan citationid=\"CR47\" class=\"CitationRef\"\u003e47\u003c/span\u003e], where male partners frequently abandoned their female partners. These findings from a low socio-economic context offer important insights to inform local interventions in Rwanda, given the country\u0026rsquo;s comparable status.\u003c/p\u003e\u003cp\u003eAnother barrier that participants reported is stigma and shame. Fear of judgment or negative cultural beliefs leads some families to hide their children or avoid healthcare services. This delays or prevents diagnosis and care, putting the child\u0026rsquo;s health at greater risk. Tackling stigma through community education is crucial to promote early screening and support. This is not unique to Rwanda, as studies have shown that stigma surrounding children with DS often leads families to hide them, thereby hindering or delaying access to quality healthcare, including screening services [\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e, \u003cspan citationid=\"CR48\" class=\"CitationRef\"\u003e48\u003c/span\u003e, \u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e49\u003c/span\u003e], which supports the findings of this study.\u003c/p\u003e\u003cp\u003eThis study also found that financial constraints limit access to CHD screening for children with DS. As in many developing countries, such barriers remain common and require community mobilization, increased enrollment in community-based health insurance that helps afford healthcare services in Rwanda, and support from both public and private organizations to assist vulnerable families. These findings align with a study in Indonesia, which showed that financial barriers contributed to delayed diagnosis and care of CHDs[\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]. The similarity may reflect shared challenges in developing countries like Rwanda and Indonesia.\u003c/p\u003e\u003cp\u003eThe study findings revealed that a shortage of cardiologists hinders CHD screening in children with DS. In Rwanda, most cardiology services are concentrated in referral hospitals, making them largely inaccessible to many families. This underscores the urgent need to train more specialists in cardiology and progressively decentralize services to lower-level hospitals. Without these measures, late screening for CHDs in children with DS is likely to persist, resulting in adverse outcomes. These findings are supported by existing literature, which highlights both a shortage of pediatric cardiologists and a limited number of pediatric cardiac centers, many of which are located far from the general population [\u003cspan additionalcitationids=\"CR51 CR52\" citationid=\"CR50\" class=\"CitationRef\"\u003e50\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR53\" class=\"CitationRef\"\u003e53\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eFinally, the study revealed that limited knowledge about DS among healthcare providers contributes to delays in CHD screening. This has serious consequences, as early diagnosis, ideally within the first six weeks of life [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e], is often missed, resulting in late detection or no screening at all. These findings highlight the urgent need to train healthcare providers on DS and its associated complications to ensure timely diagnosis and improve outcomes for affected children. This finding of poor knowledge about DS among healthcare providers is not new. A study conducted in Rwanda also revealed limited knowledge of DS among healthcare professionals [\u003cspan citationid=\"CR54\" class=\"CitationRef\"\u003e54\u003c/span\u003e], while a study conducted in Ghana reported limited knowledge among health workers regarding developmental disabilities, including DS [\u003cspan citationid=\"CR55\" class=\"CitationRef\"\u003e55\u003c/span\u003e]. In contrast, findings from a study in the United Arab Emirates showed a good level of knowledge about DS among future healthcare providers [\u003cspan citationid=\"CR56\" class=\"CitationRef\"\u003e56\u003c/span\u003e]. This difference may be attributed to the differing socioeconomic contexts of the two countries, with Rwanda being a developing country and the United Arab Emirates being a developed country. These differences may influence the knowledge in health topics among healthcare providers in these countries.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec28\" class=\"Section2\"\u003e\u003ch2\u003eSTUDY STRENGTHS\u003c/h2\u003e\u003cp\u003eA major strength of this study is its originality. To the best of our knowledge, it is the first study in Rwanda to investigate the determinants of CHD screening among children with DS. Moreover, global research in this area remains extremely limited, as existing evidence suggests that studies on DS are generally scarce [\u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e49\u003c/span\u003e]. This underscores the unique contribution of our work to literature and its potential to inform both national and global policy interventions, as well as guide future research. Methodologically, the study used FGDs and IDIs with a diverse range of participants, including parents/guardians, CHWs, and nurses. These strengths highlight the study\u0026rsquo;s unique contribution to the literature and its potential to inform policy and future research\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec29\" class=\"Section2\"\u003e\u003ch2\u003eSTUDY LIMITATIONS\u003c/h2\u003e\u003cp\u003eOne limitation of this study is that the findings, while meaningful, may not be fully generalizable beyond the study participants, as the sample was limited to parents/guardians of children with DS, CHWs, and nurses. The study also did not include the perspectives of other key health providers, such as doctors or midwives.\u003c/p\u003e\u003c/div\u003e"},{"header":"CONCLUSION","content":"\u003cp\u003eThis study explored the determinants of CHD screening among children with DS in Rwanda. Key drivers influencing parental decision-making included perceived illness and developmental concerns, guidance and influence from healthcare providers, and peer support through shared parental experiences. Conversely, several barriers were identified: limited awareness and health literacy; cultural and traditional influences on health-seeking behavior; family conflicts; stigma and shame; financial constraints; shortage of cardiologists; and insufficient knowledge about DS among healthcare providers. These findings highlight critical determinants influencing CHD screening, identifying key areas for intervention to ultimately improve health outcomes for children with DS in Rwanda.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eCHDs\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eCongenital heart defects\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eCMHS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eCollege of Medicine and Health Sciences\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eCHWs\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eCommunity health workers\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eDS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eDown syndrome\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eIRB\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eInstitutional Review Board\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eTVET\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eTechnical and Vocational Education and Training\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003cp\u003e This study involved human participants and received ethical approval from the Institutional Review Board of the University of Rwanda, College of Medicine and Health Sciences (Approval Notice: No 336/CMHS IRB/2024). All participants provided informed consent prior to their participation in the study.\u003c/p\u003e\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003cp\u003eNot applicable\u003c/p\u003e\u003c/p\u003e\u003cp\u003e\u003ch2\u003eCompeting interests\u003c/h2\u003e\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\u003c/p\u003e\u003ch2\u003eFunding\u003c/h2\u003e\u003cp\u003eThis study was supported by funding from the ELMA project at the University of Rwanda.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eVB, PU, LM, GU, and DM had substantial contributions to the conception of the work and worked on all sections of the study. VB collected data. VB performed data analysis and wrote the original draft of the manuscript. PU, LM, GU, and DM supervised the data analysis and provided feedback throughout the process. PU, LM, GU, and DM reviewed the manuscript and approved the version for publication. PU, LM, GU, and DM did supervision.\u003c/p\u003e\u003ch2\u003eAcknowledgement\u003c/h2\u003e\u003cp\u003eWe sincerely thank all the participants, including community health workers, nurses, and parents of children with DS, for generously sharing their time and insights, which were invaluable to this study.We also acknowledge the School of Nursing and Midwifery, College of Medicine and Health Sciences, University of Rwanda, for their facilitation and support in securing funding from the ELMA project for these study related activities. We acknowledge Mr. Emmanuel Munyaneza and Ms. Joselyne Rugema for their valuable contributions to data collection. We also thank Dr. Alice Muhayimana and Ms. Joselyne Rugema for their supportive input during the data analysis process, particularly through feedback and review that strengthened the rigor of the study.\u003c/p\u003e\u003ch2\u003eData Availability\u003c/h2\u003e\u003cp\u003eThe datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eH\u0026uuml;ls A, Costa ACS, Dierssen M, Baksh RA, Bargagna S, Baumer NT, et al. Medical vulnerability of individuals with Down syndrome to severe COVID-19\u0026ndash;data from the Trisomy 21 Research Society and the UK ISARIC4C survey. 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J Taibah Univ Med Sci. 2023;18:1179\u0026ndash;87. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1016/j.jtumed.2023.03.013\u003c/span\u003e\u003cspan address=\"10.1016/j.jtumed.2023.03.013\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-pediatrics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bped","sideBox":"Learn more about [BMC Pediatrics](http://bmcpediatr.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bped/default.aspx","title":"BMC Pediatrics","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Children with Down syndrome, Congenital heart defects screening, Determinants of screening uptake, Down syndrome","lastPublishedDoi":"10.21203/rs.3.rs-7591865/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7591865/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e\u003cp\u003eDown syndrome (DS) is the most common genetic cause of intellectual disability worldwide, and its associated congenital heart defects (CHDs) are among the most prevalent and serious complications. Although screening for CHDs in children with DS is recommended within the first six weeks of life, many children experience delays or are not screened at all. Globally, research on the determinants of CHD screening uptake among children with DS is scarce, and to the best of our knowledge, no such study was previously conducted in Rwanda. This knowledge gap limits the development of targeted interventions, highlighting the need to explore the determinants of CHD screening uptake among children with DS in Rwanda.\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e\u003cp\u003e A descriptive qualitative study was conducted in four Rwandan hospitals: two referral hospitals providing specialized genetic and cardiac care services, and two district hospitals collaborating with a non-governmental organization that supports children with DS. Data were collected through four focus group discussions with 40 community health workers and individual in-depth interviews with 12 nurses and 9 parents, all recruited using purposive sampling. Inductive thematic analysis was conducted using ATLAS.ti version 22 software.\u003c/p\u003e\u003ch2\u003eFindings:\u003c/h2\u003e\u003cp\u003eTwo main themes emerged from the interviews: (1) key drivers of parental decision making, including developmental concerns, guidance from healthcare providers, and peer support; and (2) barriers to screening uptake, such as limited parenteral awareness and health literacy, cultural beliefs, family conflicts, stigma, financial constraints, shortage of cardiologists, and insufficient knowledge among healthcare providers.\u003c/p\u003e\u003ch2\u003eConclusion\u003c/h2\u003e\u003cp\u003eThe study identifies key areas for intervention to enhance CHD screening uptake among children with DS in Rwanda. Addressing the identified barriers through targeted community education, health system strengthening, and provider training may contribute to earlier diagnosis and improved health outcomes for these children.\u003c/p\u003e","manuscriptTitle":"Determinants of Congenital Heart Defects Screening Among Children with Down Syndrome in Rwanda: A Qualitative Study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-11-05 17:12:14","doi":"10.21203/rs.3.rs-7591865/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-04-07T02:10:35+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-10T19:50:56+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"219238606763399396497122049605406835393","date":"2025-11-03T13:30:34+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-10-31T11:48:22+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"18480318458452459565710004455953157364","date":"2025-10-26T09:28:21+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"335680580814329738300894495372313161351","date":"2025-10-24T13:17:09+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-10-24T09:27:11+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2025-09-30T18:21:26+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-09-30T11:29:44+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-09-30T11:28:49+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Pediatrics","date":"2025-09-11T12:18:36+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-pediatrics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bped","sideBox":"Learn more about [BMC Pediatrics](http://bmcpediatr.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bped/default.aspx","title":"BMC Pediatrics","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"9a874709-fb28-47cc-a1f3-37f681f673ae","owner":[],"postedDate":"November 5th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-05-10T18:38:06+00:00","versionOfRecord":[],"versionCreatedAt":"2025-11-05 17:12:14","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-7591865","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7591865","identity":"rs-7591865","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}