METHODS: Patients who underwent ASCR between March 2015 and September 2020 with complete preoperative and postoperative 6-month, 1-year, and 2-year patient-reported outcome measures (PROMs) were retrospectively analysed. Threshold values for MCID, substantial clinical benefit, and PASS were obtained from the previous literature for the PROMs. The time required to achieve clinically significant outcomes was calculated using Kaplan-Meier analysis. Multivariate Cox regression was performed to evaluate the variables predictive of an earlier or delayed achievement of MCID.

RESULTS: Fifty-nine patients with a mean age of 64.5 ± 8.7 years old were included. The time of mean achievement of MCID, substantial clinical benefit, and PASS for VAS was 11.2 ± 0.9, 16.3 ± 1.1, and 16.6 ± 0.9 months, respectively. The time of mean achievement of MCID, substantial clinical benefit, and PASS for ASES was 13.2 ± 1.0, 16.8 ± 1.0, and 18.3 ± 0.9 months, respectively. The time of mean achievement of MCID, substantial clinical benefit, and PASS for the Constant score was 11.6 ± 0.9, 15.1 ± 1.0, and 14.7 ± 0.9 months, respectively. The time of mean achievement of MCID, substantial clinical benefit, and PASS for SANE was 14.4 ± 1.0, 16.1 ± 1.0, and 15.5 ± 0.8 months, respectively. Patients with a higher preoperative VAS score achieved an earlier MCID for VAS (P = 0.014). However, patients with a higher preoperative ASES and SANE scores achieved delayed MCID for ASES and SANE (P = 0.026, and P < 0.001, respectively).

CONCLUSION: Most patients achieved MCIDs around 1 year after arthroscopic superior capsular reconstruction. A higher preoperative VAS score favours faster MCID achievement, while higher preoperative ASES and SANE scores contribute to delayed MCID achievement.

CASE SUMMARY: This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. His clinical and laboratory data were retrospectively analyzed. According to his disease course, he was classified into an intermediate form of MSUD. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. In addition, genetic counseling and prenatal diagnosis were provided to his parents.