RESUMEN
BACKGROUND: Spinal muscular atrophy (SMA) is caused by abnormalities of the survival motor neuron (SMN) 1 gene, leading to deficiency in SMN protein and loss of spinal cord alpha motor neurons. Newer disease-modifying agents (DMA) targeting the involved genes, including nusinersen and gene replacement therapies, have improved gross motor and respiratory function, but their impact on scoliosis development has not been established. This study aimed to determine risk factors for scoliosis development in SMA, specifically genetic severity and DMA use. METHODS: In this retrospective cohort study, children with SMA and minimum 2-year follow-up were included. The primary outcome was the prevalence of clinically relevant scoliosis. Secondary outcomes included SMA type, SMN2 copy number, Hammersmith Functional Motor Scale (HFMS), ambulatory status [functional mobility scale at 50m (FMS50)], DMA use, and hip displacement as risk factors. Univariate/multivariate logistic regression analyses were performed to identify dependent/independent risk factors. RESULTS: One hundred sixty-five patients (51% female) with SMA types I-III met the inclusion criteria, with total follow-up of 9.8 years. The prevalence of scoliosis was 79%; age of onset 7.9 years. The major curve angle for the entire cohort at first assessment and final follow-up was 37 degrees (SD: 27 degrees) and 62 degrees (SD: 31 degrees) (P<0.0001), respectively. Significant risk factors for scoliosis by univariate analysis were SMA type (I/II, P=0.02), HFMS (>23, P<0.001), nonambulatory status (FMS50=1, P<0.0001), DMA treatment (P=0.02), and hip displacement (P<0.0001). Multivariate analysis revealed that HFMS >23 (P=0.02) and DMA (P=0.05) treatment were independent (protective) risk factors. CONCLUSIONS: The development of scoliosis in SMA is high, with risk factors associated with proxy measures of disease severity, including SMA type, nonambulatory status, hip displacement, and most notably, gross motor function (by HFMS). DMA use and HFMS >23 were associated with a decreased risk of scoliosis development. Identified risk factors can be used in the development of surveillance programs for early detection of scoliosis in SMA. LEVEL OF EVIDENCE: Level III.
RESUMEN
OBJECTIVE: This study aimed to evaluate the diagnosis and treatment preferences of orthopedic surgeons in developmental dysplasia of the hip (DDH) cases under the age of 1 in Türkiye with a higher incidence of DDH, estimated to be around 5-15 per 1000 live births. METHODS: This was a nationwide cross-sectional survey. A link for the online survey, including 16 multiple-choice questions, was sent to the email group of the National Orthopedic Society. RESULTS: Among 233 filled-out surveys, 211 met the inclusion criteria. Half of the participants had experience of <10 years as orthopedic surgeons, managed <25% of pediatric patients in daily practice, and treated <25 DDH cases per year before walking age. Ninety-seven percent used more than one method, hip ultrasound the most common, for exact diagnosis of DDH under 6 months. Pavlik harness was the most commonly preferred brace, but the use of Tübingen orthosis increased among experienced surgeons. The uppermost age limit for bracing was higher in surgeons dealing with more pediatric patients and treating more DDH cases. Dislocated hips and hips requiring closed/open reduction were more commonly referred to other surgeons by less experienced surgeons in terms of years, number of pediatric patients, and treated DDH cases per year. The lowest age limit for intervention under general anesthesia was lower in surgeons treating >25 DDH cases per year. Over one-third used both anterior and medial approach open reduction, but a trend to anterior open reduction alone was more evident in surgeons treating >50 DDH cases per year. More experienced surgeons were more prone to check the intraoperative reduction with postoperative computed tomography or magnetic resonance imaging. Diagnosis and treatment ages of DDH cases did not significantly change during the coronavirus disease 2019 pandemic. CONCLUSION: Management preferences of orthopedic surgeons in DDH before walking age primarily depend on the rate of pediatric patients in daily practice and the number of treated DDH cases per year.