OBJECTIVE:To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients. METHODS:Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively. Motor function outcomes were assessed post-treatment by SMA type. Safety profile was evaluated among patients starting nusinersen treatment post-enrollment. Descriptive analyses were used to report baseline characteristics, effectiveness, and safety results. RESULTS:As of March 2nd, 2023, 385 patients were included. Most patients demonstrated improvements or stability in motor function across all SMA types. Type II patients demonstrated mean changes [95% confidence interval (CI)] of 4.4 (3.4-5.4) and 4.1 (2.8-5.4) in Hammersmith Functional Motor Scale-Expanded (HFMSE), and 2.4 (1.7-3.1) and 2.3 (1.2-3.4) in Revised Upper Limb Module (RULM) scores at months 6 and 10. Type III patients exhibited mean changes (95% CI) of 3.9 (2.5-5.3) and 4.3 (2.6-6.0) in HFMSE, and 2.1 (1.2-3.0) and 1.5 (0.0-3.0) in RULM scores at months 6 and 10. Of the 132 patients, 62.9% experienced adverse events (AEs). Two patients experienced mild AEs (aseptic meningitis and myalgia) considered to be related to nusinersen by the investigator, with no sequelae. CONCLUSIONS:These data underscore the significance of nusinersen in Chinese pediatric patients with SMA regarding motor function improvement or stability, and support recommendations on nusinersen treatment by Chinese SMA guidelines and continuous coverage of nusinersen by basic medical insurance.

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first-level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2-related CMD (36.4%), followed by COL6-related CMD (23.2%) and α-dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.

Introduction: In this study we aimed to determine the influence of daily prednisone treatment in Duchenne muscular dystrophy (DMD) by performing a prospective, randomized, placebo-controlled trial in southwestern China. Methods: Sixty-six children with DMD (4-12 years of age) were divided randomly into prednisone and placebo groups. Efficacy and safety of daily prednisone at 0.75 mg/kg/day were evaluated over 12 months by muscle strength and function, quality of life (QoL), quantitative muscle ultrasound (QMUS), and side effects. Results: Significant improvements in muscle strength and function, QoL, and QMUS were observed in the prednisone group compared with the placebo-treated group (P < 0.05). Changes in body weight, height, body mass index, and diastolic blood pressure were similar in both groups (P > 0.05). Conclusions: This pilot study in southwestern China found that daily prednisone at 0.75 mg/kg/day is suitable for children with DMD. It slowed disease progression and improved QoL and QMUS. Moderate side effects were generally well tolerated.

Aim: To explore the risk factors and the status of brain-stem auditory evoked potentials (BAEP) and brain CT in children with mental retardation (MR) and/or cerebral palsy (CP). Methods: Retrospective study was used to analyz the risk factors, BAEP and brain CT abnormal rate in 137 children with MR and/or CP. Results: There were 54.8% of the MR and/or CP children with prenatal abnormalities, 25.6% with birth abnormalities, 16.1% with neonatal period abnormalities and 4.4% with familial histories; 62.0% of the MR and/or CP children had BAEP abnormalities and 52.3% with head CT abnormalities. Conclusion: The risk factors of perinatal period are related to the episode of MR and/or CP; BAEP and brain CT are good supplementary means to diagnose MR and/or CP. We should strengthen the health protection during pregnancy period as well as health education, enhance the qualities of delivery technique and cure the acute and heavy diseases in time during neonatal period in order to enhance the qualities of children life.