ENOrphanet Journal of Rare Diseases | Current Status and Improvement Strategies for Pain Assessment and Management in Pediatric Patients with Mucopolysaccharidosis
Date: April 05, 2025
Classification: Frontiers
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This study systematically reviewed the current status of pain assessment and management in French multicenter pediatric patients with mucopolysaccharidosis (MPS), revealing the prevalence of pain and underutilization of assessment tools, and proposed the necessity of multidimensional assessment approaches and healthcare professional training.
Literature Overview
This article, titled Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicenter pediatric study, published in the Orphanet Journal of Rare Diseases, reviews and summarizes the prevalence of pain, assessment methods, and current management practices in patients with mucopolysaccharidosis (MPS). It highlights that although pain is common in children with MPS, its assessment and treatment remain significantly inadequate, particularly in patients with cognitive impairments. The study emphasizes the need for systematic assessment protocols and training for healthcare professionals.
Background Knowledge
MPS is a group of rare inherited lysosomal storage disorders, encompassing seven main types (I to VII), with diverse clinical manifestations including cognitive impairments, skeletal and joint abnormalities, short stature, coarse facial features, vision deterioration, and impaired cardiopulmonary function. Chronic pain is a common symptom in MPS children, manifesting as nociceptive pain (e.g., joint stiffness, organ enlargement), neuropathic pain (e.g., carpal tunnel syndrome), and allodynia. However, due to frequent neurological and motor impairments in MPS patients, pain assessment and treatment face major challenges. Current clinical practice often relies on single assessment tools such as the Numerical Rating Scale (NRS) or the Face Pain Scale-Revised (FPS-R), which have limitations in non-verbal children. Moreover, pain management primarily involves non-opioid analgesics, with limited use of opioids, and a high rate of self-medication. Although previous studies have suggested multidimensional pain assessment models that include physiological, emotional, sociocultural, cognitive, and behavioral factors, their practical application remains insufficient. This study reveals discrepancies among medical records, patient/family feedback, and healthcare professionals’ perceptions through retrospective analysis and online surveys, emphasizing the importance of developing standardized pain assessment protocols and tools, particularly for children with disabilities.
Research Methods and Experimental Design
The study employed both retrospective analysis and a national online survey: first, medical records from 48 pediatric MPS patients were collected from five French metabolic centers, analyzing pain assessment and treatment over the past five years. The data covered 252 visits across outpatient, day-care, and inpatient settings. Second, an online survey was conducted among MPS patients’ caregivers and healthcare professionals to collect subjective insights on pain management practices, resulting in 53 and 21 valid responses, respectively. The study applied various statistical methods (Kruskal-Wallis, Dunn’s multiple comparison, chi-square test, Spearman correlation analysis) for data processing.
Key Findings and Perspectives
Significance and Future Directions
This study provides critical evidence for establishing standardized pain assessment protocols in MPS children, emphasizing the necessity of multidimensional tools and healthcare professional training. Future research should further validate these tools across different MPS subtypes and explore novel interventions such as TNF-α inhibitors and non-pharmacological therapies for pain management. Additionally, a unified pain management protocol should be developed to address all clinical phenotypes, including those with cognitive and motor impairments.
Conclusion
This study systematically analyzed the current status of pain management in MPS pediatric patients and found that, despite its prevalence, pain assessment and treatment remain significantly inadequate. Medical records indicate a relatively high frequency of pain assessment, but documentation is often incomplete and the use of assessment tools is inconsistent. Caregivers report higher pain frequency and intensity than healthcare professionals perceive, highlighting the need for improved assessment methods and communication strategies. The study recommends adopting more systematic and multidimensional pain assessment tools, especially for children with cognitive or motor impairments, and enhancing healthcare professional training to improve familiarity with pain management. Furthermore, collaboration with pain centers is suggested to introduce more non-pharmacological therapies (e.g., physiotherapy, music therapy) and novel analgesics (e.g., anti-TNF-α therapy) to enhance patients’ quality of life. Given that pain significantly impacts the quality of life and treatment adherence in MPS patients, the establishment of standardized assessment protocols will have a positive impact on clinical practice and patient care.
