Analysis of the knowledge, attitude, and practice status of the primary caregivers of children with spinal muscular atrophy regarding family transitional care—a cross-sectional study

Introduction

Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disorder caused by mutations or deletions in the survival motor neuron 1 (SMN1) gene, leading to progressive muscle weakness and atrophy, which is a leading genetic cause of infant mortality worldwide (1,2). The management of SMA poses a significant challenge, as disease progression often involves multi-system complications, including respiratory, digestive, and musculoskeletal impairments, placing a substantial caregiving and economic burden on families and healthcare systems (3-5). The therapeutic landscape for SMA has been revolutionized in recent years by the advent of disease-modifying therapies (DMTs), such as nusinersen, onasemnogene abeparvovec, and risdiplam (6,7). The current availability of nusinersen and risdiplam in China has brought new hope to the affected families (8). This paradigm shift from supportive care to targeted interventions has transformed SMA into a chronic condition manageable over the long term. Consequently, the success of these advanced treatments is increasingly dependent on high-quality, continuous home-based care to optimize clinical outcomes and improve the quality of life for children with SMA (9-11).

Within this context, primary caregivers play an indispensable role, and their ability to effectively manage complex care regimens is paramount. The knowledge, attitude, and practice (KAP) theoretical framework provides a valuable model for understanding health-related behaviors (12). According to this model, knowledge serves as the foundation for action, while attitude acts as a critical mediator influencing the translation of knowledge into practice. As SMA care becomes more complex, a significant gap may emerge between the availability of advanced therapies and the caregivers’ capacity to deliver necessary daily care. Despite this shift, there is a notable research gap in China regarding the systematic assessment of primary caregivers’ KAP in delivering family transitional care (13). Understanding the current status and identifying influencing factors is an essential first step towards developing targeted interventions. Therefore, this study aimed to assess the KAP status of primary caregivers of children with SMA in China regarding family-centered transitional care and to analyze the key factors influencing their KAP levels. The findings are expected to provide an evidence-based foundation for developing tailored health education interventions and strengthening the support system for families affected by rare diseases, ultimately bridging the gap between therapeutic advances and effective home-based management to improve long-term patient outcomes. We present this article in accordance with the STROBE reporting checklist (available at https://tp.amegroups.com/article/view/10.21037/tp-2025-1-850/rc).

Methods

Subjects

This cross-sectional study was conducted from January 1^st to March 31^st 2025. A convenience sample of primary caregivers of children with SMA was recruited from the Children’s Hospital of Zhejiang University School of Medicine. The inclusion criteria for caregivers were: (I) caring for a child with a genetically confirmed diagnosis of 5qSMA; (II) the cared-for child was aged ≤18 years; (III) being conscious and able to complete the questionnaire independently; and (IV) providing informed consent to participate. The exclusion criteria were: (I) incomplete questionnaire responses; (II) duplicate submissions; and (III) failure to complete follow-up requirements. Based on the rule of thumb for multiple regression (5–10 participants per independent variable), and considering approximately 16 independent variables, the initial target sample size was 80–160. Given SMA’s rarity, we successfully recruited 109 primary caregivers. This sample size exceeds the minimum requirement and provides a participant-to-variable ratio of nearly 7:1, which is acceptable for robust multivariate analysis in rare disease research. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Ethics Committee of the Children’s Hospital of Zhejiang University School of Medicine (No. 2025-IRB-0027-P-01), and all participants provided informed consent.

General information questionnaire

By consulting relevant literature and combining the characteristics of treatment and care for children with SMA, the research group independently designed a general information questionnaire, including the gender, age, relationship with the children, educational level, place of residence, number of caregivers, type of medical insurance, rehabilitation venue at home, and annual family income of the main caregivers. Information related to the child’s disease, such as age, course of the disease, SMA classification, scoliosis, breathing and swallowing conditions, and whether gene therapy is used, etc.

Family transitional care KAP questionnaire

A 21-item KAP questionnaire was developed based on the KAP theoretical framework, a literature review, and interviews with some parents. The questionnaire’s content validity was reviewed and refined by a multidisciplinary panel of five experts specializing in SMA care, including pediatric neurologists, a clinical nutritionist, a rehabilitation specialist, and senior nurses, all with extensive experience (≥10 years). The questionnaire was revised three times based on their feedback and was also reviewed by a methodology expert specializing in scale development. The final questionnaire comprised three dimensions:

• Knowledge (9 items): assessing understanding of SMA types, clinical manifestations, prognosis, DMTs, supportive care, risk factors for harm, rehabilitation methods, multidisciplinary team (MDT) management, nutritional requirements, adverse effects of scoliosis, and genetics/prenatal diagnosis/vaccination.
• Attitude (5 items): assessing willingness to learn about SMA and daily care skills, belief in hospital-family collaboration, perceived benefits of MDT and regular rehabilitation, and recognition of the importance of psychological support.
• Practice (7 items): assessing adherence to standardized treatment, appropriate feeding, proper positioning, assisted expectoration, managing choking emergencies, addressing psychological issues, and ensuring school attendance.

All items used a 5-point Likert scale, ranging from 1 (“not at all”) to 5 (“completely”). Higher scores indicated better knowledge, more positive attitudes, and better practice behaviors. A pilot test with 15 caregivers confirmed the questionnaire’s clarity and feasibility. The Cronbach’s α was 0.848 for the pilot and 0.849 for the formal survey, indicating good internal consistency.

Data collection and quality control

After obtaining informed consent, research team members distributed an electronic version of the questionnaire via a quick response (QR) code. Standardized instructions explaining the study’s purpose, significance, and completion guidelines were provided. The survey was anonymous, all items were mandatory, and each device was restricted to one submission to prevent duplicates. After data collection, two researchers independently checked the data for errors or omissions, contacting participants for clarification when necessary.

Statistical analysis

Data analysis was performed using SPSS Statistics version 27.0. Data entry was double-checked. Categorical variables were described using frequencies and percentages. Continuous variables, which were normally distributed, were described using means and standard deviations. Univariate analyses [independent samples t-tests and one-way analysis of variance (ANOVA)] were used to examine differences in KAP scores across different groups. Multivariate analysis was performed using multiple linear regression (stepwise method) to identify independent factors influencing KAP scores. A two-tailed P value <0.05 was considered statistically significant.

Results

Participant characteristics

A total of 113 questionnaires were collected. After excluding 4 questionnaires due to duplicate submissions or an implausibly short completion time (<200 seconds), 109 valid questionnaires were included for analysis, yielding an effective response rate of 96.46%. The general characteristics of the participants are presented in Table 1.

Overall scores of KAP

The mean scores per item for the KAP dimensions were 3.49±0.56, 4.42±0.51, and 3.65±0.53, respectively, on a 5-point scale. The total mean score per item was 3.76±0.39. The detailed KAP scores are summarized in Table 2.

Univariate analysis of factors associated with KAP scores

Univariate analysis revealed that KAP scores were associated with multiple factors.

Knowledge scores were significantly different across disease types (P<0.001), with caregivers of type I SMA scoring the highest, followed by type II and type III, those not receiving gene therapy, those with poorer health insurance, those without a dedicated rehabilitation space at home, non-mother caregivers, males, those with lower education levels, lower household income, weaker family support systems, and those residing in rural areas.

Attitude scores were significantly higher (P<0.05) among caregivers of children with more severe SMA types, those receiving gene therapy, those with better health insurance, female caregivers, those with middle-range education and income, those with stronger family support, and those residing in urban areas.

Practice scores were significantly higher (P<0.05) among caregivers of children with more severe SMA types, those receiving gene therapy, those with better health insurance, those with a home rehabilitation space, those whose children had no swallowing difficulties, mother caregivers, younger and middle-aged caregivers, females, those with higher education and income, those with strong family support, and urban residents.

The total KAP score was significantly associated (P<0.01) with all the aforementioned factors except the child’s swallowing dysfunction. Detailed results of the univariate analysis are provided in Table 1.

Multivariate regression analysis of factors influencing KAP scores among primary caregivers of children with SMA

Multiple linear regression analysis was performed to identify factors influencing the total KAP score of primary caregivers. The model fit indices indicated a good overall performance: R²=0.682, adjusted R²=0.657, F=26.834, P<0.001. The Durbin-Watson statistic was 2.290, suggesting no autocorrelation among residuals. The analysis revealed that disease type (β=−0.232, P<0.001), receipt of gene therapy (β=0.260, P<0.001), caregiver role (mother as reference to “other”, β=−0.345, P<0.001), caregiver age (β=−0.199, P=0.02), caregiver gender (β=0.252, P<0.001), caregiver education level (β=0.183, P=0.007), annual household income (β=0.203, P=0.002), and place of residence (β=0.249, P<0.001) were all significant influencing factors of the total KAP score. The assignment of values for independent variables is presented in Table 3, and the detailed analysis results are shown in Table 4.

Discussion

To our best knowledge, this study confirms that the level of KAP regarding family-centered transitional care among primary caregivers of children with SMA is significantly influenced by the caregiver’s role, demographic characteristics, and socioeconomic factors for the first time. Considerable room for improvement exists, particularly in the knowledge and practice dimensions. Our findings also highlight the precise identification of vulnerable groups requiring priority intervention—such as caregivers with lower education levels, advanced age, lower income, and those residing in rural areas. This research provides crucial evidence to inform the development of a stratified and precise home-based care support system for SMA.

Attitudes are positive, but knowledge and practice require enhancement

This study revealed that the overall KAP score among primary caregivers of children with SMA was at a moderate level. The attitude dimension received the highest score, indicating caregivers’ strong positivity and confidence in disease management, likely influenced by recent advances in SMA gene therapy (14-16). While clinical research has increasingly focused on drug efficacy and immediate treatment needs (17), health education and guidance regarding post-discharge transitional care remain insufficient. The practice dimension scored moderately, reflecting generally standardized care behaviors but significant room for improvement. Lower scores were particularly noted in the execution of rehabilitation exercises and nutritional support, challenges intrinsically linked to the progressive nature of SMA. Patients often cannot tolerate consistent training intensities, and the visible benefits of rehabilitation may be overshadowed by disease progression, leading to caregiver frustration. The absence of a “standard” protocol necessitates continuous adjustments, posing considerable challenges for non-professional family members. Precise techniques are required for passive joint movements, positioning, and respiratory training—excessive force risks fracture or tissue injury, while insufficient force renders the effort ineffective. Without systematic training and ongoing guidance, caregivers may hesitate to perform these tasks. Nutritional management is equally complex, involving risks of aspiration pneumonia due to swallowing difficulties and weak cough. Caregivers must perform precise calculations of caloric and protein intake to avoid overfeeding (which can lead to obesity, increasing cardiac and respiratory burden) or underfeeding (which can accelerate muscle loss), tasks that exceed the capabilities of most lay caregivers. The knowledge dimension was the weakest, suggesting inadequate understanding of SMA subtypes, latest treatment advances, and complication management. This gap highlights the disconnect between the highly specialized care demands of SMA, a rare disease with limited public health education, and the caregivers’ ability to translate theoretical knowledge into practice. For instance, caregivers of type I SMA patients, who often require long-term respiratory support and complex interventions, typically lack systematic training, resulting in a significant gap between knowledge and practical application.

Female, younger, and highly educated caregivers exhibit better KAP levels

Multivariate analysis identified sociodemographic characteristics of caregivers as key factors influencing KAP levels. Female gender, younger age, and higher education were associated with better KAP outcomes, likely due to superior information acquisition ability, learning adaptability, and resource accessibility (18). The higher scores among female caregivers may reflect socially ingrained gender roles that foster greater empathy, patience, and attention to detail. Although female caregivers may perform well due to their social roles, this finding also indirectly reveals a systemic issue: the responsibility of caregiving is disproportionately assigned to women (19), which underscores a critical inequity within the current care support system: the disproportionate burden of SMA caregiving falls upon women. This gender disparity highlights the urgent need to promote caregiving gender equality by developing targeted training programs to engage and empower male caregivers, thereby creating a more balanced and sustainable family support structure. Conversely, males may demonstrate less regularity and planning in health-related behaviors and underestimate the importance of balanced nutrition, an observation that is consistent with the findings of Tan et al. in other chronic disease populations (17,20). In the highly demanding context of SMA care, females might be more sensitive to subtle cues of discomfort and more meticulous in daily care routines. However, it is noteworthy that while mothers, as primary caregivers, showed greater attention to detail in care behaviors, they were less motivated to update their knowledge, suggesting possible “caregiver burnout” and “information fixation”. This counterintuitive finding underscores the extreme physical and emotional toll on mothers, who often bear the brunt of 24/7 caregiving responsibilities, leading to severe sleep deprivation and exhaustion (19). This aligns with Ren et al. (21), indicating that it is not a lack of knowledge or skill but rather depletion of executive and emotional resources under constant high pressure that hinders performance in precise tasks. This serves as a critical alert that the well-being of mothers, the core of the care system, is compromised, urgently requiring respite services, psychological support, and family task-sharing interventions. The translational implication is clear: clinical support programs must evolve beyond patient-focused education to include mandatory caregiver well-being assessments and integrated respite care pathways to prevent burnout and sustain care quality over the long term. Older caregivers scored lower, potentially due to declining physical strength and cognitive flexibility. SMA care is physically demanding, involving lifting, turning, and rehab exercises. Caregivers over 50 may find it challenging to sustain such intensity, leading to reduced frequency and quality of care, especially in physically strenuous tasks, as supported by Chen et al. (22,23). Furthermore, older caregivers might rely more on past experiences and adapt slower to new technologies and care paradigms, such as gene therapy. Additionally, they often face dual caregiving pressures—caring for both their grandchildren with SMA and their own aging parents—further straining their capacity. This highlights the need for tailored support policies, such as providing more respite services and physical aids for older caregivers and developing easily understandable training materials. Highly educated caregivers demonstrated superior performance, likely due to stronger health information literacy and processing skills (24), which are crucial for managing a complex rare disease like SMA. Higher education often correlates with better ability to discern credible information from scientific databases, authoritative journals, and international patient organizations, avoiding unverified claims. They also exhibit better comprehension and execution abilities, enabling more effective implementation of medical recommendations (23). In performing precise tasks, they can more quickly master techniques and maintain consistency, thereby maximizing treatment efficacy. Moreover, higher education is often associated with better social resources and communication skills, allowing for more effective collaboration with healthcare professionals as competent “partners”. This disparity calls for the development of tiered educational materials that translate complex medical information into accessible formats for caregivers across all literacy levels, ensuring equitable access to knowledge.

More severe disease type and receipt of gene therapy are associated with higher KAP scores

Multiple linear regression identified disease type and gene therapy as core predictors of KAP levels. Caregivers of children with more severe type I SMA scored significantly higher than those with types II/III, possibly because the critical condition prompts families to seek professional support more actively. This suggests that clinical interventions should focus on enhancing proactive support for families of children with less severe types and strengthening education about gene therapy to boost care confidence. It also indicates that families of children with milder forms might overlook the need for knowledge updates, which aligns with findings in other chronic disease care studies where caregivers’ positive attitudes and behaviors formed through daily practice may not keep pace with medical advances, especially concerning new technologies (24). This study found that caregivers of children receiving gene therapy had significantly higher total KAP scores. This result suggests a positive synergistic relationship between the application of DMTs and the enhancement of family care capabilities. Gene therapy brings unprecedented hope, which translates into stronger motivation for learning and adherence among caregivers. The high-tech nature and significant efficacy of the treatment enhance trust in medicine, encouraging caregivers to proactively understand complex post-treatment management, rehabilitation requirements, and follow-up plans, thereby elevating “knowledge”. Witnessing functional improvements in their children significantly strengthens their “attitude” or belief in care, providing powerful motivation to overcome challenges. Ultimately, this hope-driven internal motivation translates into more precise, persistent, and standardized “practices”. The key translational insight here is that access to DMTs acts as a powerful catalyst for caregiver engagement. Therefore, healthcare policies should not only focus on drug approval and reimbursement but also on ensuring that integrated caregiver education and support are a standard component of treatment pathways. This synergistic effect underscores the profound importance of early screening, diagnosis, and application of advanced therapies, which are critical not only for individual patient prognosis but also for enhancing the entire family’s care capacity and quality of life, providing strong empirical evidence for public health policy-making.

Higher family income and urban residence are linked to better KAP outcomes

This study found that caregivers with higher annual household incomes and those residing in urban areas had significantly higher KAP scores. This disparity is closely related to differences in resource accessibility and support environments. Economic advantage directly translates into better care resources (25). Higher-income families are better able to afford expensive professional rehabilitation equipment, nutritional supplements, and high-quality rehabilitation services, reducing the physical burden on caregivers. They also have better access to the latest information and technologies. Conversely, urban environments provide robust systemic support. Cities concentrate high-quality medical resources, allowing caregivers to easily access continuous professional guidance from MDTs. Additionally, well-established rare disease patient communities in urban areas offer valuable platforms for experience exchange, emotional support, and information sharing, enhancing care confidence and execution. Improving resource access and building a supportive ecosystem are essential for enhancing caregivers’ KAP levels. These findings also highlight the need to focus on supporting caregivers in resource-poor regions and low-income families through policy, telemedicine, and extending community services to bridge the care quality gap.

Implications for developing a targeted support system

The disparities in KAP levels among different caregiver groups identified in this study provide a clear direction for developing stratified and targeted interventions. Based on the influencing factors analyzed, we recommend building a support system from the following aspects: first, to address the “knowledge gap”, medical institutions should take the lead in developing standardized SMA home care education pathways and utilize new media platforms to create and distribute educational materials tailored to caregivers with different educational backgrounds. Second, to overcome “practice barriers”, rehabilitation units could develop family-centered guidance programs, using video-based remote instruction and regular home visits to teach correct techniques, especially for families in remote areas or without home rehabilitation space. Furthermore, policymakers and social workers should focus on caregivers themselves, particularly mothers, by exploring the establishment of “respite care” mechanisms and providing psychological support. Simultaneously, based on the economic and regional disparities revealed in this study, efforts should be made to include more rehabilitation equipment in health insurance reimbursement catalogs and optimize the regional distribution of medical resources, leveraging “Internet + healthcare” to break geographical barriers. Through these concrete, multi-sectoral collaborative measures, the findings of this study can be translated into effective actions to substantially improve the quality of care.

There are several limitations in this study. First, the use of a convenience sample from a single tertiary hospital may introduce selection bias and limit the generalizability of our findings, particularly to caregivers in resource-limited regions who have less access to specialized care. Second, the cross-sectional design precludes the establishment of causal relationships; for instance, it remains unclear whether receiving gene therapy enhances caregivers’ KAP or whether caregivers with higher inherent KAP are more likely to pursue such treatments. Third, although the self-designed questionnaire demonstrated good reliability, its broader applicability and responsiveness to change require further validation in diverse populations. Lastly, the use of self-reported measures is susceptible to social desirability bias, potentially leading to an overestimation of KAP scores.

Conclusions

This study shows that although caregivers demonstrate positive attitudes, significant gaps exist in their knowledge and daily care practices for children with SMA, which are linked to socioeconomic and caregiver characteristics. Knowledge and practice dimensions still need considerable improvement. The critical findings also stress the need to precisely identify the vulnerable groups requiring priority intervention. Future efforts should focus on creating personalized health education programs tailored to the needs of different caregiver populations and fostering in-depth collaboration among medical institutions, rehabilitation teams, and social policies at practical levels, including caregiver empowerment and enhanced resource accessibility. Such multi-faceted integration is essential to effectively translate advances in clinical therapeutics into substantive improvements in the quality of life of children with SMA.

Acknowledgments

The authors thank all the children and their caregivers for their kind participation and for contributing their data.

Footnote

Reporting Checklist: The authors have completed the STROBE reporting checklist. Available at https://tp.amegroups.com/article/view/10.21037/tp-2025-1-850/rc

Data Sharing Statement: Available at https://tp.amegroups.com/article/view/10.21037/tp-2025-1-850/dss

Peer Review File: Available at https://tp.amegroups.com/article/view/10.21037/tp-2025-1-850/prf

Funding: This work was supported by the Zhejiang Province Medical and Health Science and Technology Project (No. 2023KY83) and the General Research Project of Zhejiang Provincial Education Department (No. Y202558368).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-2025-1-850/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Ethics Committee of the Children’s Hospital of Zhejiang University School of Medicine (No. 2025-IRB-0027-P-01), and all participants provided informed consent.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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