Health-Related Quality of Life Outcomes in Pediatric Patients With Apert Syndrome

This study reports health-related quality of life outcomes in children with Apert syndrome following syndactyly release, evaluating upper-extremity and cognitive function along with psychosocial factors. Findings can inform caregivers and providers to improve well-being for children with Apert syndrome.

The following validated parent-proxy surveys of Patient-Reported Outcomes Measurement Information System were administered to parents of patients aged 5-17 years: upper-extremity function, cognitive function, pain interference, depressive symptoms, anxiety, and peer relationships. Parents completed the survey as a computer-adaptive test. Central tendencies for Patient-Reported Outcomes Measurement Information System domains were calculated, compared against population norms, and graded (eg, severe, moderate, normal) using Patient-Reported Outcomes Measurement Information System guidelines. Correlations were calculated between domains.

A total of 42 participants were included in the analysis, with patient ages ranging from 5 to 16.5 years (mean, 9.1; SD, 2.9 years). Compared with pediatric population norms (50; SD, 10, all domains), the Apert cohort's upper-extremity scores were lower (severe: median, 29.2; interquartile range, 4.3), cognitive function was lower (mild/moderate: median, 40.0; interquartile range, 8.0), and pain interference was higher (moderate: mean, 63.7; SD, 10.5). Peer relationship scores (mean, 42.3; SD, 9.7) were classified as good overall, whereas depressive (mean, 53.8; SD, 8.2) and anxiety scores (mean, 52.4; SD, 7.9) were within normal limits. Upper-extremity scores were correlated positively with cognitive function and peer relationships, and negatively with anxiety.

Irrespective of Upton hand type, children with Apert syndrome had severely lower scores of upper-extremity function and mild to moderately lower cognitive function, yet their socioemotional scores were comparable to pediatric population norms. Less favorable upper-extremity functioning was associated with lower cognitive function, lower peer relationship scores, and higher levels of anxiety. These results can help advise surgeons on postoperative functioning and set a baseline for comparing future studies.

Therapeutic IV.