Fatigue and pain in children with multiple osteochondromas: a cross-sectional study

Orphanet J Rare Dis. 2026 Jun 29. doi: 10.1186/s13023-026-04476-2. Online ahead of print.

ABSTRACT

BACKGROUND: Multiple osteochondromas (MO) is a rare, inherited disorder characterized by multiple benign bone tumors. Although pain and fatigue are commonly encountered in clinical practice, their impact on children with MO remains largely unaddressed in literature. This study aimed to (1) assess fatigue and pain levels in children with MO, (2) compare fatigue severity with healthy peers, and (3) identify variables associated with fatigue and pain.

METHODS: In this cross-sectional study, 230 children (4-18yrs.) with MO were invited to complete validated, age-specific online questionnaires addressing fatigue (Checklist Individual Strength [CIS], visual analogue scale [VAS-fatigue]), pain (VAS), and psychosocial factors. Fatigue scores were compared to reference data from healthy peers using one-sample t-tests. The International Classification of Functioning, disability and health framework was used for a-priori selection of potential independent variables for multivariable regression analysis.

RESULTS: A total of 134 children participated. Fatigue was reported by 89.6% (VAS-fatigue = 3.17 ± 2.63), with CIS scores significantly higher than healthy controls (CIS-MO = 66.32 ± 24.63 vs. CIS-healthy peers = 55.07 ± 20.99, p = 0.012). Pain was reported by 75.4% (VAS = 2.41 ± 2.42). For fatigue, both CIS and VAS-fatigue were associated with pain and emotional/behavioral problems (CIS-model adj. R2 = 0.524, p < 0.001; VAS-fatigue model adj. R2 = 0.576, p < 0.001). CIS was also associated with depressive symptoms (CDI, p = 0.019). The pain regression model explained 45% of the variance (p < 0.001), and pain was significantly associated with functional disability and VAS-fatigue (p < 0.001).

CONCLUSION: Fatigue, alongside pain, is highly prevalent and significantly increased in children with MO compared to healthy peers. Psychosocial factors are closely associated with both fatigue and pain, underscoring the importance of multidisciplinary disease management.

CLINICAL TRIAL NUMBER: Not applicable.

PMID:42374577 | DOI:10.1186/s13023-026-04476-2