Compared to earlier studies [19, 20], this is the most extended study period on PRD in West Africa and one of the longest in Africa. The female predominance is easily noticed in our study, with nearly three-quarters (73.6%) of the total cases reviewed being females, which is comparable to other studies on PRD in the sub-Saharan African region [19, 21, 27]. However, in other low-middle-income countries, especially Asia, studies show the female-to-male ratio to be almost equal (1:0.9) [14], while others show slight male predominance [28]. This suggests potential regional variations, particularly between Africa and Asia in the sex distribution of PRD patients, highlighting the need for further research to explore underlying factors contributing to these differences.

The mean age in years at disease presentation to the rheumatology clinic reported by our study was 13.4 ± 3.2 years. This is similar to earlier studies in other parts of West Africa, which recorded 14 years [19] and 12.7 years [20]. These are comparatively higher than observed in other studies in the southern and eastern parts of Africa and Asia, where ages below 10 years were recorded, lower than the figures reported in West Africa [14, 21, 27, 28]. These variations in age at disease presentation between West Africa and other regions like southern and eastern Africa and Asia could imply differences in disease prevalence and subtype, health-seeking behaviour, healthcare access and awareness among populations in these regions warranting further investigation for better understanding.

On average it took 18 months, a minimum of one month, and a maximum of 108 months for patients to be referred to a rheumatologist following symptoms onset in our study. This closely matches the findings of a related study in Nigeria, which also reported a mean duration of symptom onset-to-diagnosis of 18.4 months [19]. This long duration of symptom onset-to-diagnosis could be attributed to factors such as low PRD awareness, lack of accessibility to specialised healthcare, and the absence of paediatric rheumatology clinics in Ghana. The cases studied were referred from various health facilities nationwide, with the majority (61.2%) from government health facilities such as district and municipal hospitals. All caregivers visited an average of 2.3 ± 0.27 different facilities before their referral to the adult rheumatology clinic at Korle Bu. Thus, the rheumatologist was at least the third clinician to see the patient, which further emphasises the earlier position that there is a lack of initial recognition or low awareness and delayed access to specialised care for PRD in Ghana.

The current study reported gaps in the provisional diagnosis from primary care referrals and final diagnoses by the rheumatologist. Accurate matching between referral and final diagnoses was seen in 64% of JIA cases, 43% in SLE, 10% in MCTD, and 25% in JDM. The confirmed SLE, MCTD, and JDM diagnoses are significantly higher than the referring diagnoses, suggesting that these conditions may be under-recognised among general physicians in Ghana. The levels reported in this study are lower than the 84.6% reported by Migowa et al. in Kenya [22] but considerably higher than the 18.8% match reported in Asia [14]. Generally, the issue of primary-final diagnoses match is present not only in less developed countries but also in developed countries. Nevertheless, it is more common in low-middle income countries [29], partly attributed to a lack of awareness in these parts of the world [30]. Increasing the awareness of rheumatic disorders among general practitioners and the public is likely to enhance the diagnostic agreement in Sub-Saharan Africa and promote optimal health outcomes in children affected by the disease.

Arthralgia and arthritis were the most common disease manifestations reported by all cases (100%). Earlier studies on PRD in other parts of Sub-Saharan Africa similarly reported a high prevalence of this manifestation, 91.2% by Olaosebikan et al. [19] and 84.6% by Adelowo et al. [21]. Systemic complaints were also common, with 45.5% having a fever, close to the study in Yemen by Dahman, which showed 51.4% of participants having a fever. Our study reported JIA as the most frequently confirmed diagnosis, comprising 48.8% of all cases, followed by SLE in 34.7% and MCTD in 8.3%. Furia et al. reported the same order of occurrence in their study of PRD in Tanzania. Both studies are similar to reports of PRD studies in other parts of sub-Saharan Africa that reported JIA predominance in the study population [16, 19] as well as other regions outside Africa [31, 32].

Past research underscored the significance of laboratory tests in diagnosing and monitoring PRD. These tests serve various purposes, such as confirming suspected diagnoses, assessing disease severity, and tracking treatment effectiveness [33]. While only a select few tests are part of the diagnostic criteria, the most effective approach for screening patients for PRD involves a comprehensive clinical assessment, including a thorough patient history and a detailed physical examination, especially targeting the musculoskeletal exam [34, 35]. The rheumatology clinic at KBTH follows this approach to ensure positive outcomes for patients, regardless of their caregivers’ financial circumstances. In Ghana, like many other African countries, basic diagnostic tests such as complete blood count (CBC), rheumatoid factor (RF) and anti-nuclear antibodies (ANA) are available, however, these are limited to the capital cities [36, 37]. Additionally, there is poor funding of rheumatology health services by the state as seen across the African continent [38, 39], such that PRD patients in Ghana are compelled to pay out of pocket, resulting in the greater majority of patients not being able to afford to pay for these simple investigations. In this study, baseline laboratory investigations were requested for all patients, including complete blood count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Liver function tests and antinuclear antibody (ANA). However, due to financial constraints, not all patients could undergo this preliminary work-up. Of the total 121 cases, only 63 could take the ANA test, representing 52%. Disease-specific tests such as ENA panel, Anti-CCP, and Complements 3 and 4 were ordered based on patients’ presentation as a more targeted approach and to reduce the financial burden on caregivers. Finding innovative ways to expand access to essential laboratory testing and healthcare resources, such as collaboration with healthcare providers, policymakers, and stakeholders, may be necessary to develop strategies for improving the diagnosis and management of PRD in Ghana and, for that matter, Africa.

The average haemoglobin levels for males and females at disease presentation were 11 g/dl and 10.7 g/dl, respectively, typically normocytic normochromic anaemia suggestive of anaemia of chronic disease. This suggests that both the male and female paediatric patients were anaemic at diagnosis. Average values recorded for ESR and CRP were 53.88 mm/hr and 34.79 mg/l, respectively, at disease presentation which is high for both sexes and suggestive of very active disease at presentation among the PRD cases.

The mainstay of treatment for PRD in this study includes steroids, omeprazole, calcium and hydroxychloroquine. These medicines are generally more affordable and accessible in sub-Saharan Africa except hydroxychloroquine [19, 21]. A number of the cases were treated with disease-modifying anti-rheumatic drugs (DMARDs), with methotrexate (80.5%) being the most commonly prescribed for the cases involving JIA while azathioprine (72.0%) and mycophenolate mofetil (85.7%) were commonly prescribed for cases involving SLE and MCTD. None of the PRD patients received biologics at the clinic. Biologics are expensive, and even when cost is not an issue, the necessary biologics to treat certain PRD may not be available in the country. This is a problem that has also been observed in the subregion, where the availability and affordability of biologic drugs such as rituximab and etanercept were significant concerns for paying clients who have to pay out of pocket and with limited health insurance coverage [19].

As opposed to past research that looked at paediatric rheumatology care in sub-Saharan Africa, the current study is unique in that it also examined challenges specific to the primary caregivers regarding care received at the adult clinic setting. Notably, countries like Ghana, Nigeria, and Tanzania in the sub-region do not have dedicated paediatric rheumatology care centres; hence, paediatric patients are primarily seen in adult rheumatology clinics [19]. We explored whether the healthcare experience at the adult clinic was satisfactory for a younger population from the experiences of caregivers. It was discovered that 95.8% of the primary caregivers were direct parents of the child, while the rest were relatives of the patients. This indicates that all the primary caregivers encountered at the clinic were family caregivers who had significant emotional bonds with the patient and were part of the patient’s family life circle. It is well-documented that familial caregivers contribute substantially to enhancing patients’ quality of life, whether within the hospital or home setting and play a pivotal role in assisting patients in coping with their illnesses [40].

The vast majority of the caregivers reported positive experiences regarding waiting times and their relationships with healthcare providers at the adult rheumatology clinic. They reported experiencing no difficulties with the treatment received, although some expressed concerns about the high cost of medications. Additionally, almost all of them were satisfied with their children receiving care at the adult rheumatology clinic. It is worth noting that, all caregivers visited an average of two different facilities before seeking care at the adult rheumatology clinic. This suggests that their favourable encounters and satisfaction with the adult rheumatology clinic at the KBTH were informed by their prior experiences across multiple healthcare settings including paediatric clinics. Thus, despite challenges in obtaining resources to establish paediatric rheumatology centres in sub-Saharan Africa, this speciality can still succeed if well-coordinated with adult rheumatology.

The study also revealed that a substantial majority (95.7%) of the caregivers demonstrated insufficient awareness of their child’s diagnosis. Therefore, comprehensive health education initiatives should be developed to increase awareness and knowledge among parents and caregivers of individuals living with PRD in Ghana. Improving the education of healthcare professionals and the general public, through conventional and digital media, regarding the key symptoms of PRD, particularly musculoskeletal symptoms, is crucial for early detection and prompt intervention towards improving diagnosis and patient outcomes. Additionally, establishing more streamlined referral systems, particularly in rural regions, is crucial to reducing the time between PRD symptom onset and consultation with a rheumatologist to mitigate financial constraints experienced by many caregivers. It is important to consider including DMARDs in insurance schemes, like the National Health Insurance in Ghana, to lessen the financial constraints experienced by many caregivers. Above all, encouraging extensive paediatric rheumatology research and education in Sub-Saharan Africa is critical due to significant knowledge gaps and would play a crucial role in enhancing awareness and facilitating early diagnosis and appropriate treatment, thus improving patient outcomes.