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

PURPOSE: 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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.