American journal of medical genetics. Part C, Seminars in medical genetics · 2026
Pain and Health: Sex-Specific Differences From a Survey Study of Adults With Arthrogryposis Multiplex Congenita.
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Sions Jaclyn Megan, Donohoe Maureen, Vallery Claire Elizabeth, Stauffer Samantha Jeanne, Pohlig Ryan Todd
Аннотация
Arthrogryposis Multiplex Congenita (AMC), a rare congenital condition characterized by joint contractures in two or more body regions, is often accompanied by pain. Understanding pain and its relationship to health outcomes among adults with AMC is critical for effective pain management. The objectives of this survey study were to characterize the pain experience in adults with AMC and determine the extent to which pain intensity relates to health, while considering potential sex differences. Participants (n = 73, 67.3% female) reported average pain intensity, severity, and extent per body diagrams, and completed the Pain Catastrophizing Scale and 29-item Patient-Reported Outcomes Measurement Information System. In the preceding 7 days, 82.7% of participants reported pain; females were more likely to report pain. Pain intensity was significantly greater in females than males. Beyond covariates of sex and AMC severity, higher pain intensity was associated with worse physical function and ability to participate in social roles, as well as greater sleep disturbance. Female sex and an interaction term (sex × pain intensity) were significantly associated with greater fatigue. Findings highlight the importance of considering sex-specific differences in pain and the relationship between pain intensity and fatigue among adults with AMC.