An Assessment of Paediatricians' Knowledge and Perspectives of Duchenne Muscular Dystrophy in Oman

Summary

Objectives:

Duchenne muscular dystrophy (DMD) is a severe, X-linked recessive disorder. The rarity of DMD and insufficient training result in paediatricians being uninformed about the condition, delaying diagnosis and treatment. This study aimed to evaluate the knowledge and perspectives of Oman's paediatric residents and paediatricians regarding the genetics, clinical features and therapy of DMD. Furthermore, this study assessed the association between residency training phases (R1–R4) and post-residency knowledge, together with the influence of professional titles on DMD knowledge.

Methods:

This prospective cross-sectional study was conducted from October 2024 to February 2025 and included paediatric healthcare practitioners. An online questionnaire was used to enquire about DMD's genetic, clinical and management components. Knowledge scores were evaluated by residency level and professional title and used a Kruskal-Wallis test (P <0.05) for statistical significance.

Results:

A total of 151 participants were included in this study (response rate = 54.6%); 94% correctly identified DMD as X-linked and 96% as male-dominated. However, only 44.7% correctly identified high creatine kinase-MM levels as a neonatal screening marker and 33.3% were unsure of glucocorticoid use in DMD. Performance improved with residency year, with later-stage residents performing better in clinical features and management (P <0.001). Knowledge of DMD varied by professional title (P = 0.04), with residents scoring the lowest and senior specialists the highest.

Conclusion:

DMD management options are poorly understood by paediatricians in this study. Despite considerable genetic information, diagnostic indicators and disease-modifying medicines were poorly understood. The findings suggest that junior residents need targeted instruction and ongoing professional development to provide comprehensive management for DMD patients.

Advances in Knowledge

• Significant knowledge gaps were identified in knowledge around Duchenne muscular dystrophy (DMD) therapies and multidisciplinary management among the included cohort of Oman's paediatric residents and paediatricians.

• These insights provide an evidence base to guide curriculum development, educational interventions and national guidelines for paediatric neuromuscular care.

• This is the first study in Oman to assess paediatricians' knowledge, attitudes and practices regarding DMD.

Application to Patient Care

• Targeted educational initiatives for paediatricians and residents can directly improve the quality of care delivered to children with DMD in Oman.

• This study provides a foundation for developing national clinical guidelines and structured training programmes in paediatric neuromuscular disorders.

1. Introduction

Duchenne muscular dystrophy (DMD) is a severe, X-linked recessive, multi-systemic disease marked by progressive skeletal, cardiac and smooth muscle degeneration.¹ DMD is a type of dystrophinopathy, a group of muscle disorders caused by mutations in the dystrophin gene and marked by a complete absence of the dystrophin protein. Dystrophin plays an essential role in stabilising the sarcolemma throughout repetitive cycles of contraction and relaxation of muscles; therefore, the myocytes lacking dystrophin are more prone to damage, which can lead to subsequent pathological changes.² DMD, a leading neuromuscular disorder in childhood in different populations and ethnic groups, has significant morbidity and mortality.^3,4,5

The time interval prior to initiating intervention and establishing an accurate diagnosis significantly impacts the effectiveness of care and overall prognosis in patients with DMD.^6,7,8 In the Middle East and North Africa (MENA) region, lack of awareness among healthcare professionals and the general public, coupled with limited resources and the absence of standardised diagnostic pathways, contributes to delays in diagnosing DMD and consequently postpones the initiation of management for affected patients.^9,10 The average age of diagnosis in the MENA region is 7–8 years compared to 4.3 years in the United Kingdom, a 2–3 years diagnostic delay.⁹ The situation remains suboptimal when compared with certain Asian countries, such as China, Taiwan and Korea, where the average age of diagnosis ranges from 5 to 5.6 years.^11,12

Therefore, assessing healthcare providers' understanding of DMD is essential for recognising educational strengths and addressing potential knowledge gaps that may impact clinical care. One study revealed that paediatricians and residents often have significant knowledge gaps concerning the genetics, clinical presentation and management of DMD. Given their frontline role, enhancing their understanding through targeted education and training is essential.¹³ Furthermore, lack of awareness about DMD's clinical characteristics can lead to frustration among care providers. For example, one study revealed frustration with providers who dismiss early concerns or who are unfamiliar with the condition, which often forces families to seek specialty care independently. This breakdown in family-centred care affects trust and satisfaction, as well as health outcomes.¹⁴

This study aimed to identify critical knowledge gaps regarding DMD among paediatric healthcare professionals in Oman. By assessing the current knowledge and perspectives on the genetics, clinical and laboratory features, and management of DMD, the current study examined differences across paediatric residents at various training levels (R1–R4), post-residency practitioners and professionals with different titles. This study's findings will inform targeted educational interventions, training programmes and clinical guidelines, and ultimately enhance professional competence and improve care and outcomes for DMD patients.

2. Methods

This prospective cross-sectional study was conducted between October 2024 and February 2025 in Oman. The study included all Oman Medical Specialty Board (OMSB) paediatric residents (R1–R4) in 2024 and practicing paediatricians. Participants were recruited from selected hospitals across Oman, including Sultan Qaboos University Hospital, Al Nahdha, Royal Hospital and regional hospitals in Sohar, Ibri, Nizwa, Buraimi, Khasab, Sur, Ibra and Salalah, chosen for their accessibility and survey distribution feasibility. A non-random sampling method was used to maximise reach. All non-consenting individuals and non-paediatric practitioners were excluded.

The required sample size for this study was established based on a total population of 282 paediatric healthcare providers, comprising 104 paediatric residents and 178 paediatricians. With a 95% confidence level and a 5% margin of error, the minimal sample size was calculated to be approximately 165 people. This sample size guarantees the reliability of the study's findings, which facilitates the derivation of useful inferences from the data.

An online self-administered questionnaire was distributed via email and during site visits. The questionnaire was created using Google Forms for easy distribution and data collection. The questionnaire was adapted from the literature with modifications of existing questions. Questions related to DMD-modifying therapies were added to the questionnaire to highlight this essential knowledge about DMD; 5 expert opinions were requested for content validation. The validation ratio was calculated for each of the 18 items and determined the validity of each item accordingly. In addition, to enhance clarity, expert feedback was obtained regarding the language, scope and structure of each item. The item-wise content validity rate was 0.944, indicating that the questionnaire had a strong mean content validity rate (0.94 ± 0.9), with most items having been rated highly by experts. No item fell below the acceptable threshold of 0.78, and the low standard deviation suggested consistency in expert ratings across all items. The second step was to obtain face validity; a pilot study was conducted among a small group of paediatric residents and paediatricians (n = 15) to provide feedback and recommendations on the questionnaire. The questionnaire was validated by assessing its clarity, relevance and effectiveness in gathering the necessary information. Through the pilot study, potential issues or challenges were identified that could arise during data collection and analysis and adjustments were made before conducting the full-scale study.

The questionnaire was structured into 4 distinct sections. The first section focused on socio-demographic data, which included questions about participants' professional titles (paediatric residents, paediatric consultants and paediatric specialists, senior specialists or post-OMSB practitioners) and, for paediatric residents, their residency year (R1–R4). Post-OMSB practitioners were defined as newly graduated within 3 years after their paediatric board exam; specialist as a certified physician practicing independently; senior specialist as an experienced specialist with a supervisory role; and consultant as a senior physician with full authority, patient care and training responsibilities. This section was designed to collect background information and provide a context for assessing how socio-demographic factors might affect knowledge levels concerning DMD. This section specifically facilitated the identification of a potential association between professional titles and knowledge, as well as the impact of residency year on the comprehension of DMD.

The subsequent 3 sections (parts 1, 2 and 3) assessed participants' knowledge and perspectives on DMD. Part 1 focused on the inheritance pattern and genetic features of DMD. This section covered two questions (questions 1 and 2) that examined participants' comprehension of the genetics of DMD. Part 2 addressed clinical and laboratory features through 5 multiple choice questions (questions 3, 4, 5, 6 and 7)—each of which contain 4 possible responses—which assessed participants' competency in recognising the essential diagnostic markers of DMD, including muscle weakness and pertinent biomarkers. Part 3 of the questionnaire focused on the management of DMD patients through 3 multiple-choice questions (questions 8, 9 and 10)—again, each of which contain 4 possible responses—that assessed participants knowledge about different therapeutic options for DMD; and in the same section, presented 4 additional questions (questions 11, 12, 13 and 14) formatted as ‘True/False/No' idea. This third section permitted multiple responses for 2 questions (questions 15 and 16), one concerning the subspecialties engaged in DMD care and the other addressing available disease-modifying medications. This structure was designed to offer a thorough assessment of participants' knowledge about both the theoretical and practical aspects of DMD [Table 1].

Table 1.

Participants' responses to knowledge-based questions on Duchenne muscular dystrophy across genetic features, clinical and laboratory features and management (N = 151).

Questions	n (%)
Part 1 (inheritance pattern and genetic features)
1. What is the mode of inheritance in DMD?
Autosomal recessive	2 (1.3)
Autosomal dominant	3 (2.0)
X-linked	143 (94.7)
Mitochondrial disorders	1 (0.7)
Unknown inheritance	0 (0.0)
No idea	2 (1.3)
2. Which of the following statement is correct about DMD?
Usually seen in boys	145 (96.0)
Only seen in girls	1 (0.7)
No gender differences	3 (2.0)
No idea	2 (1.3)
Part 2 (clinical and laboratory features)
3. Please state which of the following is not among the symptoms and findings of DMD?
Frequent falls	11 (7.3)
Difficulty climbing stairs	0 (0.0)
Difficulty walking	3 (2.0)
Fasciculations in the tongue	136 (90.1)
Difficulty standing up from sitting position	1 (0.7)
No idea	0 (0.0)
4. Which pattern of weakness is typically observed in DMD?
Proximal muscle weakness	127 (84.1)
Distal muscle weakness	14 (9.3)
Scapulohumeral peroneal pattern	2 (1.3)
No specific group of muscles	8 (5.3)
5. Which statement is correct about DMD patients?
They lose the ability to walk between 9-12 years of age	124 (82.1)
They can never run	7 (4.7)
They experience difficulty sitting without support at an early age	11 (7.3)
They can never walk independently	4 (2.7)
No opinion	5 (3.3)
6. Which of the following is not laboratory finding in DMD?
Elevated serum CK between 100–200	71 (47.0)
Elevated serum CK between 1,000–20,000	15 (9.9)
Elevated serum CK >20,000	35 (23.2)
No idea	30 (19.9)
7. Which of the laboratory tests can be used for new-born screening for DMD?
Elevation in CK-MB	36 (23.8)
Elevation in CK-MM	68 (45.0)
Elevation in CK-BB	1 (0.7)
Elevation in AST	1 (0.7)
Elevation in ALT	1 (0.7)
No idea	44 (29.1)
Part 3 (management and treatment options of DMD patients)
8. Please state which of the following is not recommended in the follow-up of DMD patients?
Evaluation of growth every 6 months	14 (9.3)
Evaluation of bone metabolism when the patient loses the ability to walk	16 (10.6)
Evaluation of pubertal growth every 6 months	62 (41.1)
Evaluation of vitamin D and calcium intake starting at time of diagnosis	24 (15.9)
No idea	35 (23.2)
9. Which of the following is incorrect for DMD?
The most frequent cause of death is lung involvement, infection, and cardiomyopathy	7 (4.6)
Cardiac evaluation should be performed at the time of diagnosis	4 (2.6)
Lung capacity should continually be evaluated	11 (7.3)
Regular rehabilitation, endocrine, gastroenterology, and orthopaedic should be performed after diagnosis	9 (6.0)
Glucocorticoids should be avoided in DMD patients	99 (65.6)
No idea	21 (13.9)
10. Which sentence is false about DMD treatment?
Patients with established diagnosis of DMD should receive oral steroids	7 (4.6)
Both DMD and Becker muscular dystrophy patients should receive oral steroids	13 (8.6)
Steroid treatment is lifelong and should continue after loss of ambulation	37 (24.5)
Steroids benefits are delay loss of ambulation and the need for non-invasive ventilation	19 (12.6)
Steroids may delay the onset of cardiac dysfunction	24 (15.9)
No idea	51 (33.8)
11. Genetic counselling should be provided to the families of DMD patients
True	150 (99.3)
False	1 (0.7)
No idea	0 (0.0)
12. Annual surveillance with sleep study is indicated in patients with DMD
True	92 (60.9)
False	24 (15.9)
No idea	35 (23.2)
13. The curative treatment for DMD has not been found yet
True	76 (50.3)
False	54 (35.8)
No idea	21 (13.9)
14. DMD qualifies for inclusion into an expanded new-born screening programme
True	76 (50.3)
False	54 (35.8)
No idea	21 (13.9)

DMD = Duchenne muscular dystrophy; CK = creatinine kinase; AST = aspartate aminotransferase; ALT = alanine aminotransferase.

Data were analysed using Statistical Package for Social Sciences (SPSS) software, Version 29 (IBM Corp., Armonk, New York, USA). Both quantitative and qualitative variables were analysed; quantitative variables included the total knowledge score and the qualitative variables included the professional title and residency year. Associations were investigated with a Fisher's exact test, t-test and odds ratios. A P value of <0.05 was considered statistically significant.

3. Results

A total of 282 individuals (104 paediatric residents and 178 paediatricians) were invited to participate. Of these, 154 responded (response rate = 54.6%) and 3 were excluded due to disagreement with the informed consent. The final analysis included 151 participants (45.0% paediatric residents and 55.0% paediatricians) [Table 2].

Table 2.

Demographic distribution of participants by professional title and residency level (N = 151).

Subgroup	n (%)
Professional title
Paediatric resident	68 (45.0)
Post-OMSB paediatric residency	23 (15.2)
Paediatric consultant	19 (12.6)
Paediatric specialist or senior specialist	41 (27.2)
Year of residency programme
R1	18 (11.9)
R2	16 (10.6)
R3	18 (11.9)
R4	17 (11.3)
Not a resident	82 (54.3)

OMSB = Oman Medical Specialty Board; R1 = 1st year of residency; R2 = 2nd year of residency; R3 = 3rd year of residency; R4 = 4th year of residency.

In Part 1, most participants (94.7%) correctly identified DMD as X-linked and 96.0% recognised that it is typically seen in boys. Regarding clinical and laboratory features, 90.1% of respondents correctly excluded tongue fasciculations as a sign of DMD and 84.1% recognised that proximal muscle weakness is a characteristic feature of the disease. In response to a question on disease progression, 82.1% of participants correctly identified that patients with DMD typically lose the ability to walk between 9 and 12 years of age. Only 47.0% of participants correctly identified that a serum creatine kinase (CK) level of 100–200 IU/L does not represent a characteristic finding for DMD, whereas 45.0% recognised elevated CK-MM as a relevant marker for new-born screening and 29.1% indicated uncertainty. Of the participants, 65.6% correctly recognised that the statement “Glucocorticoids should be avoided in DMD patients” as false, whereas 33.8% were unsure about the role of steroids in DMD management. Although 99.3% of respondents supported genetic counselling for families of DMD patients, 60.9% correctly identified that annual surveillance with a sleep study is indicated for patients with DMD, and only 50.3% were aware that no curative treatment currently exists. Additionally, just 50.3% correctly identified that DMD qualifies for inclusion in an expanded new-born screening program [Table 1].

Most participants (94.7%) agreed that paediatric neurologists should manage DMD, followed by physical rehabilitation (93.4%) and genetics (92.7%). General paediatric also was supported by 82.8%, while other specialties, including orthopaedic surgery, paediatric endocrinology, paediatric gastroenterology and paediatric pulmonology were recognized less frequently [Fig. 1].

Fig. 1.

Distribution of answers concerning which subspecialty should follow-up patients with Duchenne muscular dystrophy.

Regarding disease-modifying therapies for DMD, gene replacement therapy was the most frequently selected option reported by 44.4% of participants. Gene editing and exon skipping were chosen by 30.5% and 29.1% of respondents, respectively. Additionally, 18.5% of respondents selected dissociative steroids, while 14.6% chose read-through anti-nonsense oligonucleotides. However, a notable 32.5% of participants were unsure about any of these therapies.

The total score significantly differed among different groups (P <0.001), with R1 residents scoring the lowest. The differences were specifically found between R1 and non-residents (P <0.001), R1 and R4 residents (P = 0.004) and R2 and non-residents (P = 0.01). Part 1, which focused on inheritance patterns and genetic features, found no significant difference overall (P = 0.32), although R2 showed a perfect score (100 ± 0.00). Part 2, which addressed clinical and laboratory features, found significant differences (P = 0.04), with R1 showing notably lower scores than both non-residents (P = 0.019) and R4 (P = 0.01). Part 3, which dealt with management and treatment options, found significant association (P = 0.01), with R1 scoring significantly lower than R3 (P = 0.04) and non-residents (P = 0.002) [Table 3]. A clear progression in total scores occurred across different training stages. Notably, Part 3 exhibited the lowest scores across all groups when compared to both Part 1 and Part 2 [Fig. 2].

Table 3.

Comparison of knowledge scores about Duchenne muscular dystrophy across different training stages.

Subgroup	Mean score ± SD	P value
Total Score
R1	52.4 ± 12.2	<0.001
R2	58.0 ± 9.00
R3	63.9 ± 12.8
R4	65.5 ± 18.1
Not a resident	66.9 ± 13.2
Part 1 (inheritance patterns and genetic features)
R1	88.9 ± 27.4	0.32
R2	100 ± 0.00
R3	94.4 ± 23.6
R4	97.1 ± 12.1
Not a resident	95.7 ± 19.6
Part 2 (clinical and laboratory features)
R1	59.7 ± 21.2	0.04
R2	64.1 ± 22.3
R3	66.7 ± 12.1
R4	76.5 ± 18.7
Not a resident	72.6 ± 18.7
Part 3 (management and treatment options)
R1	39.6 ± 16.2	0.01
R2	44.5 ± 17.7
R3	54.9 ± 20.2
R4	52.2 ± 25.1
Not a resident	56.9 ± 18.4

SD = standard deviation; R1 = 1st year of residency; R2 = 2nd year of residency; R3 = 3rd year of residency; R4 = 4th year of residency.

Fig. 2.

Progression of total and part-wise performance scores across different residency training stages. SD = standard deviation; R1 = 1st year of residency; R2 = 2nd year of residency; R3 = 3rd year of residency; R4 = 4th year of residency.

A statistically significant difference was observed in total DMD knowledge scores across groups (P = 0.04). Specifically, the most significant difference was found between paediatric residents and paediatric specialists or senior specialists (P = 0.008), with paediatric residents scoring the lowest and paediatric specialists or senior specialists scoring the highest. Regarding specific sections, Part 1 (inheritance and genetic features) scores were consistently higher across all professional titles. In contrast, scores in Part 2 (clinical and laboratory features) and Part 3 (management and treatment options) were generally lower. However, none of the 3 parts reached statistical significance. Paediatric consultants recorded the highest mean score in Part 3. However, the difference in total scores between paediatric consultants and specialists or senior specialists was minimal and not statistically significant [Fig. 3].

Fig. 3.

Association between professional titles and the knowledge level of Duchenne muscular dystrophy.

OMSB = Oman Medical Specialty Board.

4. Discussion

Current clinical care guidelines emphasise the need for comprehensive awareness of DMD's genetic basis, progression and multidisciplinary treatment approaches among all healthcare professionals involved in paediatric care. Improved provider education facilitates early diagnosis, appropriate genetic counselling, anticipatory guidance and coordinated management, and ultimately improves patient outcomes.⁷

Therefore, well-informed paediatricians are essential for early diagnosis, timely intervention, comprehensive management and family support for DMD—all critical factors that greatly enhance the quality of life for patients and families. Continued education and training on DMD for paediatricians is strongly recommended to bridge the existing care gaps and ensure optimal outcomes.

Part 1 of the current study, which assessed knowledge of inheritance and genetic features of DMD, revealed that most participants demonstrated a strong foundational understanding. Specifically, 94% correctly identified DMD as an X-linked disorder and 96% recognised that it primarily affects males. These results suggest a high level of awareness among paediatric healthcare providers in Oman, potentially due to the comprehensive integration of genetic topics in undergraduate and early postgraduate medical curricula. This finding aligns in part with a similar study conducted in Turkey, where 97.5% of respondents recognised DMD as a genetic disease, although only 74.6% correctly identified the X-linked inheritance pattern.¹³ The discrepancy between the two studies may reflect differences in genetics education or an overall familiarity with rare diseases in the respective training environments.

An exploration of the clinical and laboratory features of DMD revealed variability in participants' understanding of key diagnostic indicators. Although the majority demonstrated a correct recognition of key clinical features such as proximal muscle weakness, the absence of tongue fasciculations and loss of ambulation between the ages of 9 and 12, it is concerning that only 46.7% of respondents correctly identified an elevated serum CK level between 100–200 IU/L as an atypical finding for DMD. A serum CK threshold of 5,115 IU/L has been shown to reliably differentiate DMD and Becker muscular dystrophies with a sensitivity of 97.3%.¹⁵ This established threshold is considered a key diagnostic marker for DMD. The finding that fewer than half of participants recognized CK-MM as a key diagnostic marker, with nearly one-third expressing uncertainty, highlights a significant knowledge gap. This is concerning given paediatricians' frontline role in DMD care, where at minimum, CK testing is expected in suspected cases. Research, including a meta-analysis, has shown that the CK-MM test is highly accurate, particularly in new-born screening for DMD, which underscores its importance in early diagnosis.¹⁶ This finding highlights the need for targeted educational initiatives to improve early DMD detection and management.

Regarding management, 65.3% of participants recognised the role of glucocorticoids in DMD treatment, while 33.3% were uncertain, highlighting the need for further education on the long-term benefits of glucocorticoids in preserving motor and respiratory function and the need for scoliosis surgery.¹⁷ Fortunately, there was strong support for genetic counselling among respondents, highlighting its recognised importance for managing inherited neuromuscular disorders. Moreover, 60.7% of participants correctly recognised the need for annual sleep surveillance, which is in line with the American Thoracic Society's guidelines that emphasise the risks of sleep hypoventilation and upper airway obstruction in DMD patients, underscoring the importance of early detection and intervention through regular sleep evaluations.¹⁸ However, an awareness that a curative treatment for DMD currently does not exist was notably limited in the current study population. In contrast, 82.7% of participants in another study conducted in Turkey correctly identified that DMD remains an incurable condition.¹³ This discrepancy suggests variability in understanding that may be influenced by differences in training or access to updated clinical guidelines. Additionally, half of the participants recognised DMD's inclusion in expanded new-born screening programmes, indicating some awareness of early diagnosis.

Both the current study's cohort and Kutluk et al.'s cohort highlight a strong recognition of paediatric neurology and physical rehabilitation as being central to early DMD management.¹³ However, limited awareness of specialties such as pulmonology, endocrinology and gastroenterology underscores the need to strengthen the understanding that a broader multidisciplinary team is essential for managing later-stage complications and optimising long-term outcomes. Gene replacement therapy has emerged as a promising option for disease-modifying treatments for DMD. Gene editing and exon skipping also have received notable attention, which reflects the optimism about these innovative approaches. Moreover, the inclusion of dissociative steroids and read-through anti-nonsense oligonucleotides as selected options shows that participants recognise a variety of potential treatments, including both established and experimental ones. However, the uncertainty expressed by 32.5% of participants points to a critical gap in knowledge, which could be attributed to the complexity of these therapies.

The current study demonstrates a progressive improvement in DMD-related knowledge across residency levels, with significant gains in clinical and laboratory features (P = 0.04) and management (P = 0.01). First-year residents scored lowest, particularly in management, which indicates a difficulty with applied decision-making compared to foundational knowledge such as inheritance and genetics, where no significant difference was observed (P = 0.32). This pattern suggests theoretical knowledge is introduced early, whereas practical application develops mainly through hands-on experience, underscoring the importance of supervised clinical rotations. Knowledge progression milestones were evident, with significant differences between R1 and R4 (P = 0.004) and between R2 and non-residents (P = 0.01), highlighting substantial gains in later residency years and beyond. These findings parallel results from an Omani study on paediatric residents' diabetic ketoacidosis knowledge, in which junior residents also underperformed in complex management tasks, suggesting that gaps in applied clinical knowledge reflect the natural progression of medical training rather than disease-specific deficits.¹⁹

The current study found a significant difference in total knowledge scores across paediatric professional levels (P = 0.04), with residents scoring lowest and senior specialists highest. The largest gap was between residents and senior specialists (P = 0.008), emphasising the role of clinical exposure and responsibility in developing disease-specific knowledge. In contrast, differences among senior groups were minimal and not statistically significant, which suggests a plateau effect wherein further knowledge acquisition about rare conditions such as DMD depends more on targeted education and case exposure than on years of practice alone. All groups scored highest in Part 1 (inheritance and genetics), whereas Parts 2 and 3 (clinical features and management) showed consistently lower scores, indicating stronger theoretical knowledge than applied clinical understanding. Paediatric consultants had the highest management scores, likely reflecting their role in advanced care. However, persistent gaps across all levels suggest limited clinical exposure, which is consistent with prior findings that many paediatricians have minimal experience with neuromuscular cases, thus limiting their practical knowledge and familiarity with evolving treatment protocols.²⁰

The current study has several limitations that should be considered when interpreting the findings. The response rate of 54.6% may reflect the time constraints of paediatricians and introduces potential responder bias, since participants may have had a greater interest or knowledge of DMD. The cross-sectional design also limits the ability to assess knowledge changes over time or infer causality. These factors may affect the generalisability of the results. Future studies should investigate the impact of clinical exposure and targeted educational interventions on improving disease-specific knowledge and clinical competency.

5. Conclusion

This study highlights persistent knowledge gaps about DMD among paediatricians, including practicing clinicians, particularly regarding management and multidisciplinary care. The findings underscore the need for earlier, structured training for rare neuromuscular disorders and support the integration of targeted educational interventions into national residency programmes and continuing professional development. Policymakers and training institutions should prioritise simulation-based learning, interdisciplinary case discussions and the development of clinical guidelines to enhance preparedness across all paediatric practice levels.

Authors' contribution

Zamzam Al Jabri: Conceptualization, Methodology, Software, Data Curation, Writing - Original Draft. Maryam Alsawaie: Conceptualization, Methodology, Software, Data Curation, Writing - Original Draft. Amal Saki Malehi: Formal analysis. Amna Al Futaisi: Validation, Writing - Review & Editing. Fatema Al-Amrani: Conceptualization, Methodology, Validation, Writing - Review & Editing.

Acknowledgement

We sincerely thank all participants for their time and valuable contribution in completing the questionnaire for this study.

Ethics statement

This study received ethical approval from the Oman Medical Speciality Board (No: 1430/2/3-1/8/2024) for paediatric residents, Sultan Qaboos University (College of Medicine and Health Sciences; REF. NO. SQU-EC/141/2024) and Ministry of Health for paediatricians (MoH/DGPS/CSR/PROPOSAL_ APPROVED/97/2024). Informed consent was secured via an informed consent form in the online questionnaire to ensure voluntary participation.

Generative AI declaration

The authors acknowledge the use of artificial intelligence–based language tools (ChatGPT and QuillBot), which were employed solely to enhance the readability and clarity of the manuscript.

Conflict of interest

The authors declare no conflicts of interest.

Funding

This work is supported by a grant from the Deanship of Research at Sultan Qaboos University, Muscat, Oman (UF/MED/CHLD/24/01).

Data availability

Data is available upon reasonable request from the corresponding author.