Long-term Function of Adults With Arthrogryposis

Arthrogryposis multiplex congenita patients' functional abilities vary greatly, depending on the disease severity and treatment. This study aimed to identify and describe associations among physical impairments and long-term functional outcomes of adults with arthrogryposis.

We interviewed 42 adult patients ( M =37 y, SD=12; range 20 to 74; 50% men) with arthrogryposis who were treated between 1988 and 2019 at a pediatric rehabilitation center or major adjacent general hospital. We evaluated their function and quality of life with the Physical Activity Scale for Individuals with Physical Disabilities (PASIPD); Disabilities of the Arm, Shoulder, and Hand (Quick-DASH); and Short Form 36 Health Survey (SF-36) and compared variables using the Fisher exact and Mann-Whitney tests.

Participants were more likely than the general population to have graduate degrees and lower physical function, but rated their quality of life as similar. Despite high rates of musculoskeletal pain in the back (60%), hip (50%), shoulder-elbow (25%), and wrist (58%), only 2 participants reported regularly using pain medication. Over 83% had upper-limb involvement; upper-extremity and lower-extremity symptoms limited upper-extremity function. Upper limb function was correlated with shoulder, elbow and wrist symptoms but also with hip, knee and foot symptoms (Quick-DASH; P <0.05). General dysfunction was correlated with shoulder, spine, hip, and foot symptoms (PASIPD; P <0.05). Shoulder and spine symptoms had a grave effect on mobility. Participants who had spine surgery reported better upper-limb function than patients who did not (Quick-DASH; P <0.05).

We found a significant discrepancy between the participants' high quality of life and education levels and their limited mobility and social, physical, and upper-extremity function and high rates of symptoms. Pain management and social rehabilitation remain major aims for this population. Upper-extremity function was not only correlated with upper-extremity joint symptoms but also with lower-extremity joint dysfunction and appears to improve with spine surgery. It is possible that improved posture or seating position will enhance the functional position of the upper extremity. The ramifications of surgery and the correlation between extremity function should be further examined.

Level 4.