# Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study

## TL;DR

This study examines how pain is assessed and managed in children with mucopolysaccharidoses, a rare genetic disorder, and finds that pain is common but often overlooked.

## Contribution

The study introduces a call for systematic pain assessment tools and multidimensional approaches tailored for pediatric MPS patients, including those with disabilities.

## Key findings

- Chronic pain is reported in 94% of pediatric MPS patients but is difficult to assess.
- Discrepancies exist between medical records, patient/family reports, and healthcare professionals' perceptions of pain.
- The study recommends caregiver training and collaboration with pain centers for better pain management.

## Abstract

Mucopolysaccharidoses (MPS) are a group of rare genetic lysosomal storage disorders with a wide spectrum of clinical severities. Chronic pain is frequent but difficult to assess. The aim of this study was to evaluate the detection and management of pain in pediatric MPS patients.

Pain-related data were retrospectively collected from the medical records of pediatric MPS patients from five French centers for inborn metabolic disorders. A national online survey was also conducted about the feelings of patients and/or their families and of healthcare professionals about the detection and management of pain in pediatric MPS patients.

The medical records of 48 patients with all subtypes of MPS were analyzed. Pain was frequent and recurrent in MPS patients (pain was reported in 94% of the patients), but it was undoubtedly difficult to assess. We observed important differences between (1) medical records demonstrating frequent assessment and treatment of pain, (2) feelings of patients or their families (53 questionnaires) reporting frequent pain, and (3) feelings of healthcare professionals (21 questionnaires) who were quite satisfied with their own practices, suggesting that the majority of patients were unpainful. We recommend a more systematic evaluation of pain, particularly for outpatients, with the use of adapted tools, notably in children with disabilities, and with a multidimensional approach to pain assessment and management. Caregiver training is also needed, and close collaboration with pain centers is encouraged.

A routine pain assessment protocol for MPS patients is required that covers the entire spectrum of pain and can be adapted for every type of patient, including those with neurocognitive and motor impairments.

The online version contains supplementary material available at 10.1186/s13023-025-04065-9.

Chronic pain is a prevalent feature in pediatric MPS patients, but its detection and management remain complex.Specific tools are required for the detection of pain in these patients; these tools may be adapted for patients with neurocognitive impairment and may constitute a multidimensional approach to pain assessment and management (complex model considering nociceptive, affective, sociocultural, cognitive and behavioral approaches).Caregiver training is needed, and close collaboration with pain centers is encouraged.

Chronic pain is a prevalent feature in pediatric MPS patients, but its detection and management remain complex.

Specific tools are required for the detection of pain in these patients; these tools may be adapted for patients with neurocognitive impairment and may constitute a multidimensional approach to pain assessment and management (complex model considering nociceptive, affective, sociocultural, cognitive and behavioral approaches).

Caregiver training is needed, and close collaboration with pain centers is encouraged.

The online version contains supplementary material available at 10.1186/s13023-025-04065-9.