Awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in China: a survey-based study

Abstract

Background

Anesthetic management of pediatric patients with rare diseases presents substantial perioperative challenges and risks. This study evaluated the clinical competency and specific educational needs of anesthesia practitioners in China regarding the perioperative management of this vulnerable patient population.

Method

A cross-sectional survey was conducted from May 2024 and March 2025, involving 2127 anesthesia practitioners across China. Data were collected via a validated anonymous questionnaire and analyzed through descriptive statistics and chi-square tests.

Result

Among the 2,127 participants, 93.5% were anesthesiologists and 6.5% were nurse anesthetists. Of these, 43.2% (919/2127) reported previous experience in administering anesthesia to children with rare diseases. Despite this exposure, self-assessed competency levels were notably insufficient. Only 9.0% (191/2127) of respondents reported comprehensive knowledge of pediatric rare diseases, and 15.0% (318/2127) expressed adequate confidence in perioperative management protocols. Objective assessment of specific knowledge domains revealed considerable deficiencies: 14.9% (317/2127) of respondents correctly identified contraindications in muscular dystrophy, 6.6% (141/2127) demonstrated adequate understanding of difficult airway indicators, and merely 3.9% (82/2127) accurately recognized depolarizing agent risks. Comparative analysis between self-rated high-familiarity and low-familiarity groups revealed that direct clinical exposure was significantly associated with practitioners’ understanding of pediatric rare diseases. Regarding the development of future anesthesia support systems for pediatric rare diseases, practitioners identified two primary requirements: comprehensive diagnostic information (58.6%, 1246/2127) and detailed anesthesia contraindications (57.0%, 1212/2127). Additionally, 50.1% (1065/2127) of respondents emphasized the importance of real-time knowledge base updates to ensure access to current clinical guidelines and safety protocols.

Conclusion

This study highlights substantial knowledge gaps and insufficient confidence among anesthesia practitioners in the perioperative management of children with rare diseases, underscoring an urgent need for enhanced training and robust support systems in this specialized area.

Supplementary Information

The online version contains supplementary material available at 10.1186/s12887-026-06957-6.

Background

Rare diseases comprise a heterogeneous group of disorders affecting multiple organ systems, characterized primarily by their low prevalence and distinctive clinical manifestations [1]. According to estimates from the World Health Organization, rare diseases impact 0.65–1‰ of the population [2, 3], with approximately 6000 to 8000 distinct rare diseases documented worldwide [4]. Recent epidemiological data indicate that 3.5%–5.9% of the global population, equivalent to 260–450 million individuals, are affected by rare diseases [5]. In China, rare diseases are defined as conditions with an incidence below 1/10,000 newborns or fewer than 140,000 total cases [6], resulting in an estimated affected population of 49–82 million individuals [7]. These patients frequently encounter challenges including social marginalization, limited healthcare prioritization, and inadequate access to diagnostic and therapeutic resources [8].

The genetic basis of rare diseases is considerable, with 72% possessing genetic origins and 70% presenting during childhood [5]. These patients often require anesthesia for various interventions, including: diagnostic procedures (e.g., magnetic resonance imaging [MRI], tissue biopsy, etc.), disease-related surgical interventions (e.g., repair of cardiac anomalies, contracture release, etc.), or surgeries unrelated to their primary condition (e.g., appendectomy, fracture stabilization) [9, 10]. Perioperative management of pediatric patients with rare diseases presents unique challenges and significant risks. Ba0sed on the systems-based evaluation framework [9], they can be grouped into categories such as neuromuscular, airway, cardiovascular, respiratory, gastrointestinal, and renal/hepatic disorders. For instance, children with mucopolysaccharidoses require sedation for MRI due to musculoskeletal dysplasia and cognitive impairment, yet their coexisting airway abnormalities, cardiovascular defects, and obstructive sleep apnea collectively heighten peri-sedation risks [11, 12]. Another illustrative example involves children with Duchenne muscular dystrophy, who experience an average diagnostic delay of 2.2 years [13]. During this crucial period, they may undergo diagnostic muscle biopsies or orthopedic procedures [14], potentially facing life-threatening complications if exposed to contraindicated agents such as succinylcholine, which can precipitate fatal hyperkalemia or rhabdomyolysis.

Compounding these clinical challenges is a widespread deficit in rare disease awareness, not only among the general public but also among healthcare professionals, researchers, and medical students [15–17]. A European survey revealed that 22% of patients consulted at least eight physicians before diagnosis, 73% experienced misdiagnosis, and the average diagnostic delay reached 4.7 years [18]. While general information about rare diseases is often available online through resources such as Orphanet (www.orpha.net), raredisease.org, or UpToDate. However, anesthesia-specific information—including organ dysfunction risks, pharmacological considerations, and airway management protocols—remains limited and fragmented [2]. Most available evidence consists of isolated case reports with limited scientific rigor [9, 19]. This dispersion of knowledge makes it unrealistic to expect any single anesthesiologist to maintain comprehensive expertise across all rare diseases they might encounter in practice [20].

Given these challenges and the substantial perioperative risks faced by children with rare diseases, this study was designed to evaluate the current state of clinical awareness and identify specific knowledge gaps among anesthesia practitioners in China regarding the perioperative management of pediatric patients with rare diseases.

Methods

Study design

This cross-sectional study employed a web-based survey to assess anesthesiologists and nurse anesthetists practicing in China. The study protocol received institutional ethical committee approval (No.2023 − 294), incorporating comprehensive data protection measures. The survey platform featured password-protected access, and participation was voluntary without compensation. The investigation, conducted from May 2024 to March 2025, utilized convenience sampling methodology.

Survey access was facilitated through the distribution of QR codes, directing participants to an introductory interface that detailed confidentiality provisions, the structure and estimated duration of the questionnaire, and the type of data collected. Participants provided informed consent acknowledging research utilization of collected data prior to survey access. Participants were informed that participation was voluntary and could be withdrawn at any time without consequence. No incentives, monetary or non-monetary, were offered for participation in the survey.

Questionnaire design

The survey instrument underwent development through a comprehensive literature review and cultural adaptation for the Chinese healthcare context (Supplementary Table 1). Initial validation involved expert panel review comprising ten professionals: two professors, four attending physicians, and four residents. Adaptive questioning was applied to tailor the survey experience and reduce participant burden. The preliminary 20-item questionnaire was refined to 15 items following pilot testing with ten anesthesiologists. Their feedback was used to refine the wording, layout, and navigation of the questionnaire before launching the final version via WJX platform (https://www.wjx.cn/). Subsequently, seven domain experts conducted systematic content validity evaluations (Supplementary Table 2). All items demonstrated robust content validity, achieving Item-Content Validity Index (I-CVI) scores ≥ 0.80 and a Scale-Content Validity Index/Average (S-CVI/Ave) above 0.90. Further validation involved pilot testing with 20 anesthesia practitioners, including attending physicians, associate chief physicians, and nurse anesthetists, who documented completion times and implementation challenges. The instrument underwent final refinement based on pilot feedback, with pilot data excluded from subsequent analyses. The finalized survey, hosted on the WJX platform, comprised three domains: demographic characteristics, awareness and knowledge of pediatric rare diseases, and perioperative support system requirements and concerns.

Survey distribution

Survey dissemination utilized WeChat (Tencent, Inc., Shenzhen, China), a digital platform exceeding one billion monthly active users globally. The research team invited senior anesthesiologists from hospitals across different provinces in mainland China to act as local coordinators. These coordinators then distributed the survey link to regional WeChat groups dedicated to anesthesia practitioners. Hospitals were selected based on convenience sampling to achieve broad geographic coverage. The follow-up protocol incorporated systematic reminder communications to non-respondents, limited to three contact attempts, to optimize response rates while minimizing participant burden.

Data analysis

Hospital classification and tier assignment were determined through institutional name queries using the National Health Commission’s Hospital Information Inquiry System, which classified institutions as women’s and children’s hospitals or general hospitals, and assigned tiers according to China’s three-tier system (tertiary, secondary, primary/unclassified). Dedicated rare disease departments with independent anesthesia services are uncommon in China. Therefore, this study did not specifically identify anesthesiologists from such departments. Anesthesiologists complete at least a 5-year medical school program followed by 3-year standardized residency training. Under the supervision of senior anesthesiologists, who supervise a set number of operating rooms, junior anesthesiologists may perform procedures such as intubation and sedation. Nurse anesthetists typically graduate from a 3-year nursing college (associate degree) or a 4-year nursing bachelor’s program, after which they receive additional specialized training. They assist senior anesthesiologists with tasks such as equipment preparation, monitoring, and drug administration under direction, without performing independent procedures.

For the specialized anesthesia multiple-choice questions (questions 11–13), the correct answer sets were predefined based on a combination of relevant literature and the research team’s clinical experience. Responses to these questions were classified into four mutually exclusive categories for analyses: “absolutely correct” when participants selected all correct options without any incorrect selections; “partially correct” when at least one correct option was selected without incorrect choices, though complete correct selection was not achieved; “incorrect” when any incorrect option was selected, regardless of concurrent correct choices; and “indeterminate” for cases with missing data or explicit “Have no idea” selections. For question 14, which was a multiple-choice item without predefined correct answers, respondents selected the three most essential functionalities for a perioperative support system. This question was analyzed by calculating the proportion of respondents. Knowledge self-rated utilized a 10-point Numerical Rating Scale (1 = no familiarity, 10 = expert familiarity). For analytical purposes, responses were dichotomized into high-familiarity (scores 7–10) and low-familiarity (scores 1–6) groups.

Data quality assurance involved systematic screening based on predetermined exclusion criteria. Questionnaires were eliminated if they exhibited excessive missing data (defined as absence of responses for two-thirds of total items) or completion times below 60 s. These temporal thresholds were established through pilot testing with 20 anesthesia practitioners to determine reasonable response time. Following data collection, responses were extracted from the WJX platform and imported into Microsoft Excel for preliminary processing. Statistical analyses were conducted using IBM SPSS Statistics software (version 26.0, IBM Corporation, Armonk, NY, USA). Descriptive statistics characterized participant demographics and variable distributions. Categorical data were expressed as frequencies and percentages, with intergroup comparisons performed using Chi-square tests. For subgroup comparisons, the absolute percentage-point difference (high-familiarity minus low-familiarity) and its 95% confidence interval were calculated using the Wilson score method. As this study was exploratory and descriptive in nature, no formal a priori sample size calculation was performed. Nevertheless, the final sample size of 2127 respondents provided high precision for the estimation of key proportions in this national cross-sectional survey. Statistical significance was established at P < 0.05.

Result

The study included 2127 anesthesia practitioners after excluding four non-consenting individuals. Respondents were distributed across all 31 provinces, municipalities, and autonomous regions in mainland China (the geographic distribution is detailed in Supplementary Table 3). Among participants, anesthesiologists constituted the majority, with attending physicians/lecturers representing 47.4% (1007/2127), followed by associate chief physicians/associate professors (30.3%, 645/2127) and chief physicians/professors (15.8%, 336/2127) (Table 1). Nurse anesthetists comprised 6.5% (139/2127) of respondents. Academic credentials were distributed across bachelor’s degrees or lower (54.2%, 1151/2127), master’s degrees (35.4%, 754/2127), and doctoral degrees (10.4%, 222/2127). The majority of participants had over 11 years of clinical experience (38.6% (821/2127) with 11–20 years, 31.5% (671/2127) with > 20 years), while 19.9% (422/2127) reported 6–10 years and 10.0% (213/2127) indicated 1–5 years of practice.

Table 1.

Participant demographics

Variable	Total (n = 2127)
Work experience, No. (%)
1–5 years	213 (10.0)
6–10 years	422 (19.9)
11–20 years	821 (38.6)
> 20 years	671 (31.5)
Education level, No. (%)
Bachelor’s degree or lower	1151 (54.2)
Master’s degree	754 (35.4)
Doctoral degree	222 (10.4)
Professional title, No. (%)
Attending physician/lecturer	1007 (47.4)
Associate chief physician/ associate professor	645 (30.3)
Chief physician/professor	336 (15.8)
Nursing staff	139 (6.5)
Daily pediatric anesthesia involved, No. (%)
0	264 (12.4)
<5	1644 (77.3)
5 ~ 10	162 (7.6)
>10	57 (2.7)
Hospital tier classification, No. (%)
Tertiary hospital	1772 (83.3)
Secondary hospital	338 (15.9)
Primary/Unclassified	17 (0.8)
Women and children’s hospital, No. (%)
Yes	426 (20.0)
No	1701 (80.0)

Regarding pediatric surgical involvement, 77.3% (1644/2127) performed fewer than 5 procedures daily, 12.4% (264/2127) reported no involvement, 7.6% (162/2127) conducted 5–10 procedures, and 2.7% (57/2127) performed > 10 daily pediatric surgeries. A daily caseload exceeding 10 pediatric surgeries can be attributed to short procedures and senior anesthesiologists supervising more than one operating room in high-volume centers. Among the respondents, 80.0% (1701/2127) provided care at general hospitals, compared with 20.0% (426/2127) at specialized women’s and children’s hospitals. Regarding hospital tiers, tertiary hospitals comprised 83.3% (1772/2127), secondary hospitals 15.9% (338/2127), and primary/unclassified hospitals 0.8% (17/2127).

Institutional infrastructure analysis revealed limited specialized facilities. Specifically, only 26.0% (554/2127) of respondents worked in hospitals with dedicated pediatric sedation centers. Among these centers, 64.3% (356/554) managed fewer than 20 cases per day (Fig. 1). Similarly, only 19.7% (419/2127) of respondents were affiliated with hospitals that operated specialized rare disease clinics. Regarding pediatric rare disease anesthetic management experience, 43.2% (919/2127) reported prior clinical involvement, while 56.8% (1208/2127) lacked such experience (Fig. 2). Self-rated knowledge familiarity (scale 1–10) demonstrated considerable limitations, with 41.7% (886/2127) scoring ≤ 3 and merely 9.0% (191/2127) achieving scores ≥ 7. Perioperative management confidence exhibited parallel patterns: 40.3% (857/2127) scored ≤ 3, while only 15.0% (318/2127) reported high confidence (≥ 7). Objective knowledge assessment revealed significant deficits in specialized anesthesia knowledge, with correct response rates of 14.9% (317/2127) for progressive muscular dystrophy medication contraindications, 6.6% (141/2127) for difficult airway management conditions, and 3.9% (82/2127) for depolarizing agent contraindications (Fig. 3).

Fig. 1.

Institutional resources for pediatric sedation center and specialized outpatient clinic for rare diseases. (n = 2127)

Fig. 2.

Clinical exposure, self-rated familiarity, and confidence of anesthesia practitioners regarding pediatric rare disease management. (n = 2127)

Fig. 3.

Knowledge gaps in specialized anesthesia management of pediatric rare diseases. (n = 2127). Absolutely Correct: all correct options, no incorrect; Partially Correct: ≥1 correct, no incorrect, but incomplete; Incorrect Selection: any incorrect option selected; Indeterminate Judgment: missing data or “Have no idea” ALS: Amyotrophic lateral sclerosis, MPS: Mucopolysaccharidosis, SMA: Spinal muscular atrophy

Analysis of self-rated knowledge familiarity revealed significant associations with professional characteristics and clinical exposure (Table 2). Of the 2127 respondents, 191 (9.0%) had high self-rated knowledge familiarity (scores 7–10) and 1936 (91.0%) low familiarity (scores 1–6). Practitioners with > 20 years’ experience constituted 40.3% (77/191) of the high-familiarity group compared to 30.7% (594/1936) in the low-familiarity cohort. Doctoral degree holders demonstrated higher representation in the high-familiarity group (17.3% (33/191) versus 9.8% (189/1936)). Professional seniority was positively associated with self-rated knowledge familiarity, evidenced by chief physicians comprising 27.2% (52/191) of the high-familiarity group versus 14.7% (284/1936) in the low-familiarity group. No significant difference was observed in the distribution of high-familiarity and low-familiarity groups across hospital tiers (P = 0.203). However, clinical exposure was significantly associated with knowledge acquisition: higher pediatric surgical volumes (> 5 cases/day) were associated with increased high-familiarity probability (18.3% (35/191) versus 9.5% (184/1936)). The high-familiarity group demonstrated greater access to specialized facilities, including women’s and children’s hospital (26.2% (50/191) versus 19.4% (376/1936)), pediatric sedation centers (40.3% (77/191) versus 24.6% (477/1936)), and high-volume centers (> 30 cases/day: 32.5% (25/77) versus 21.4% (102/477)). Specialized rare disease clinic availability (37.7% (72/191) versus 17.9% (347/1936)) and prior rare disease anesthesia experience (78.0% (149/191) versus 39.8% (770/1936)) showed strong positive correlations with self-rated knowledge familiarity.

Table 2.

Association between self-rated knowledge of pediatric rare diseases and clinician characteristics among anesthesia medical staff

Variable	Rate your familiarity with knowledge of pediatric rare diseases on a scale from 1 to 10
	1–6 (n = 1936)	7–10 (n = 191)	Absolute percentage-point difference (%)	95% CI	P value*
Work experience, No. (%)					0.037
1–5 years	195 (10.1)	18 (9.4)	-0.6	(-3.7, 5.2)
6–10 years	394 (20.4)	28 (14.7)	-5.7	(-11.0, -0.4)
11–20 years	753 (38.9)	68 (35.6)	-3.3	(-10.4, 3.8)
> 20 years	594 (30.7)	77 (40.3)	9.6	(2.4, 16.9)
Education level, No. (%)					0.003
Bachelor’s degree or lower	1062 (54.9)	89 (46.6)	-8.3	(-15.7, -0.8)
Master’s degree	685 (35.4)	69 (36.1)	0.7	(-6.4, 7.9)
Doctoral degree	189 (9.8)	33 (17.3)	7.5	(2.0, 13.0)
Professional title, No. (%)					< 0.001
Attending physician/lecturer	945 (48.8)	62 (32.5)	-16.4	(-23.4, -9.3)
Associate chief physicians/associate professors	592 (30.6)	53 (27.7)	-2.8	(-9.5, 3.8)
Chief physician/professor	284 (14.7)	52 (27.2)	12.6	(6.0, 19.1)
Nursing Staff	115 (5.9)	24 (12.6)	6.6	(1.8, 11.4)
Daily pediatric anesthesia involved, No. (%)					< 0.001
0	253 (13.1)	11 (5.8)	-7.3	(-10.9, -3.7)
<5	1499 (77.4)	145 (75.9)	-1.5	(-7.9, 4.8)
5 ~ 10	136 (7.0)	26 (13.6)	6.6	(1.6, 11.6)
>10	48 (2.5)	9 (4.7)	2.2	(-0.9, 5.3)
Hospital tier classification, No. (%)					0.203
Tertiary hospital	1608 (83.1)	164 (85.9)	2.8	(-2.4, 8.0)
Secondary hospital	314 (16.2)	24 (12.5)	-3.7	(-8.6, 1.3)
Primary/Unclassified	14 (0.7)	3 (1.6)	0.8	(-1.0, 2.7)
Women’s and children’s hospital, No. (%)					0.026
Yes	376 (19.4)	50 (26.2)	6.8	(0.3, 13.2)
No	1560 (80.6)	141 (73.8)	-6.8	(-13.2, -0.3)
Pediatric sedation center, No. (%)					< 0.001
Yes	477 (24.6)	77 (40.3)	15.7	(8.5, 22.9)
No	1459 (75.4)	114 (59.7)	-15.7	(-22.9, -8.5)
Daily pediatric sedation involved, No. (%) #	n = 477	n = 77			0.025
< 10	219 (45.9)	22 (28.6)	-17.3	(-28.2, -6.4)
10–20	95 (19.9)	20 (26.0)	6.1	(-4.0, 16.2)
20–30	61 (12.8)	10 (13.0)	0.2	(-7.7, 8.1)
> 30	102 (21.4)	25 (32.5)	11.1	(0.3, 21.9)
Rare diseases clinic access, No. (%)					< 0.001
Yes	347 (17.9)	72 (37.7)	19.8	(12.7, 26.9)
No	1589 (82.1)	119 (62.3)	-19.8	(-26.9, -12.7)
Anesthesia experience for children with rare diseases, No. (%)					< 0.001
Yes	770 (39.8)	149 (78.0)	38.2	(32.0, 44.5)
No	1166 (60.2)	42 (22.0)	-38.2	(-44.5, -32.0)

^*Chi-square P value

#Restricted to participants from institutions with pediatric sedation centers

Denominators: Low-familiarity group (scores 1–6) n = 477; High-familiarity group (scores 7–10) n = 77

CI: Confidence Interval

Regarding perioperative support system priorities for pediatric rare diseases (Fig. 4A), participants emphasized rare disease diagnosis (58.6%, 1246/2127), anesthesia medication risk alerts (57.0%, 1212/2127), and guidelines or expert consensus (53.2%, 1131/2127). Primary implementation concerns (Fig. 4B) centered on anesthesia protocol update speed (50.1%, 1065/2127), followed by clinical accuracy concerns (21.3%, 454/2127) and system usability challenges (12.6%, 267/2127). Data privacy risks were cited by only a minority (2.8%, 60/2127).

Fig. 4.

Prioritized functional requirements and implementation considerations for perioperative support systems targeting children with rare diseases. A Functional requirements (Q14). B Implementation concerns (Q15). (n = 2127)

Discussion

Rare diseases have emerged as a significant public health issue in recent years [21]. Since 2016 [7], China has made substantial progress in rare disease, including the National Rare Diseases Registry System (NRDRS)7 for epidemiological surveillance, the designation of 207 conditions across two directories, and standardizing diagnosis-treatment guidelines, advancing care coordination [22, 23]. However, these systemic advancements have not extended to perioperative management, and regional and institutional disparities may lead to significant variations in anesthesiologists’ understanding of rare diseases [5, 24]. Our survey revealed critically deficient knowledge foundations and low clinical confidence among practitioners.

Specifically, despite most participants having over 10 years of experience, senior titles, and working in tertiary hospitals, self-ratings remain persistently low, consistent with the objectively low accuracy observed in rare disease anesthesia knowledge assessments. These findings are consistent with prior reports of low medical awareness and knowledge gaps in rare disease care [25–27]. Moreover, because WeChat is a major platform for academic exchange and individuals with higher reliance on it are more likely to access rare disease–related information, the voluntary nature of participation may have introduced selection bias.

This disconnect may not be attributed to individual capability deficits, but rather to imbalanced institutional resource allocation. Pediatric sedation centers and rare disease clinics are concentrated in a limited number of women’s and children’s hospitals or tertiary centers. Even in our sample, in which 83.3% of respondents worked in tertiary hospitals, only 26.0% of institutions had pediatric sedation centers and only 19.7% had rare disease clinics; resource limitations are likely to be even more pronounced in secondary hospitals. This imbalance restricts access to the multidisciplinary support and specialized clinical exposure required for the anesthetic management of children with rare diseases.

Previous studies [28, 29] have identified multifaceted barriers to equitable rare disease care, including socioeconomic, [30] health system resource constraints, and deficiencies in medical education. At the individual level, commonly reported barriers [31–34] include pervasive knowledge deficits, limited clinical experience due to low disease prevalence and inequitable access to rare disease guidelines or diagnostic resources. In our study, high self-rated knowledge familiarity was associated with extensive clinical tenure, doctoral academic credentials, chief physician rank, and sustained high-volume case exposure. Regarding structural-resource limitations, Gunes et al. [28] highlight critical system deficiencies, including the absence of a multidisciplinary approach, insufficient specialists, and inadequate infrastructure. Our findings extend this evidence by demonstrating that anesthesiologists’ knowledge acquisition is significantly constrained by concentrated resource allocation, specifically, limited access to specialized facilities such as pediatric sedation centers (particularly high-volume centers handling > 30 cases/day) and dedicated rare disease clinics. Consequently, rare disease expertise fundamentally accrues through specialized clinical engagement, transcending professional tenure or academic qualifications alone.

Education serves as a bridge between knowledge and behavior, forming a fundamental strategy for the sustainable rare disease healthcare system [35]. However, cognitive-educational deficits, including low disease awareness among physicians and insufficient rare disease training in medical curricula, remain widespread [31, 36, 37]. Systematic education in the anesthetic management of rare diseases is currently lacking in both standardized residency training and pediatric anesthesiology subspecialty programs in China. Our preliminary data revealed that although 22.3% of anesthesiology residents had participated in the anesthetic management of children with rare diseases, only approximately 4% felt adequately familiar with the associated risks and confident in management. In addition, the correct response rate on a theoretical assessment of several relatively common rare diseases was below 15%, underscoring a substantial unmet educational need.

[Prior studies have called for structured educational frameworks for medical professionals [38–40]. Evidence supports that incorporating rare diseases into undergraduate medical education, especially through problem-based learning case teaching, systematic competency development, and case report writing, can effectively improve clinical reasoning, self-directed learning, and preparedness for complex clinical situations. Moreover, Continuing Medical Education and practice-based Continuing Professional Development remain essential for promoting lifelong learning and for maintaining alignment with evolving medical knowledge and standards of care. The scaffolded case-based learning approach [41], which has proven effective in enhancing clinical reasoning, self-directed learning, and knowledge retention among anesthesiology residents managing complex conditions such as hypertrophic obstructive cardiomyopathy, offers a promising model for rare disease education through structured, progressive, and contextualized pedagogical support. Furthermore, the integration of artificial intelligence–based teaching methods and the development of simulation scenarios represent promising educational approaches that merit consideration and further validation [42, 43].

Beyond educational interventions, electronic resources such as telehealth, social networking platforms and specialized apps offer transformative potential for perioperative management of children with rare diseases [44]. Orphanet (www.orpha.net) provides extensive diagnostic and genetic information but offers limited perioperative guidance, including for high-risk scenarios such as malignant hyperthermia prevention in RYR1-related disorders. Orphan Anesthesia (www.orphananesthesia.eu) provides practical multilingual recommendations, but its routine clinical use remains limited, particularly in resource-limited settings such as China [20]. Similarly, China’s NRDRS [7], despite multi-platform accessibility, exhibits a conspicuous deficiency in integrated perioperative anesthesia modules. Our survey highlighted that, for future anesthesia support systems targeting pediatric rare diseases, practitioners prioritized comprehensive diagnostic information and detailed anesthesia contraindications as essential needs, while real-time knowledge base updates were a major concern. Potential functions include diagnosis-linked drug alerts, disease-specific algorithms for airway and organ system management, continuously updated guidance based on current evidence and expert consensus, and case-based prompts for just-in-time learning. Therefore, these findings suggest that future efforts should combine targeted education with intelligent digital decision support to improve perioperative safety in children with rare diseases.

Limitations

This study utilized a questionnaire-based design targeting anesthesia practitioners. Several limitations should be acknowledged. First, no formal a priori sample size calculation was performed. Although previous survey studies in China might have informed response rate estimation, this study was designed as an exploratory national cross-sectional survey. However, the final sample size was large and allowed reasonably precise estimation of the main descriptive outcomes. Second, the reliance on self-reported data may have introduced recall bias, as responses were based on participants’ memory rather than objective medical records. Third, practitioners who responded to the questionnaire may have been more concerned about rare diseases than those who declined participation, potentially introducing selection bias. Fourth, although the content validity of the questionnaire was rigorously established, reliability metrics such as internal consistency or test-retest stability were not assessed, representing a methodological limitation. Fifth, the cross-sectional design precludes causal inferences; only associations can be derived from the findings. These limitations should be considered when interpreting the study results.

Conclusion

This survey highlights critical deficiencies in perioperative knowledge of anesthesia practitioners for children with rare diseases, characterized by significant knowledge gaps and low levels of clinical confidence. These gaps are closely associated with limited clinical exposure to low-incidence, high-risk conditions. Three essential functionalities were identified as priorities for perioperative support systems: diagnostic pathways, medication risk alerts, and access to clinical guidelines or expert consensus, with particular emphasis on the need for rapid updates to anesthesia protocols. Future initiatives should synergistically enhance practitioner awareness and knowledge through targeted educational interventions to address knowledge deficits, integrate advanced simulation-based training to strengthen practical skills, and develop robust decision-support tools. Collectively, these strategies will contribute to improved perioperative safety and outcomes for vulnerable pediatric patients with rare diseases.

Abbreviations

ALS

Amyotrophic lateral sclerosis

MPS

Mucopolysaccharidosis

MRI

Magnetic resonance imaging

NRDRS

National Rare Diseases Registry System

SMA

Spinal muscular atrophy

Authors' contributions

Study conception and/or design: D.X.C. and Z.X. Data collection: Y.M.K., X.L., Z.X., N.H., J.H., S.N.D., X.Q.J. Statistical analysis: Y.M.K. and D.X.C. Writing of the draft: Y.M.K., D.X.C. All authors participated in the interpretation of results and critically revised the manuscript. All authors approved the final version of the manuscript for publication.

Funding

This study was supported by the Science and Technology Department of Sichuan Province (No. 2024NSFSC1679 to Dong Xu Chen) and Chengdu Science and Technology Department - Technological Innovation R&D Project (General Project. No. 2024-YF05-00339-SN to Dong Xu Chen).

Data availability

Data are available upon reasonable request.

Declarations

Ethics approval and consent to participate

This study was conducted in accordance with the Declaration of Helsinki. This study was approved by the West China Second Hospital of Sichuan University Institutional Review Board (No. 2023 − 294). All participants provided informed consent through an electronic authorization process prior to completing the questionnaire.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.