Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.

INTRODUCTION/AIMS: While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early-treated infants with SMA. METHODS: We analyzed retrospective data at 12 centers on infants with SMA treated at age ≤6 weeks from August 2018 to December 2023. RESULTS: Sixty-six patients, 35 with two SMN2 copies and 31 with ≥3 SMN2 copies, were included. Twenty-five (38%, 22 with two SMN2 copies), had SMA findings before initial treatment which was onasemnogene abeparvovec in 47 (71%) and nusinersen in 19 (29%). Thirty-two received sequential or combination treatments, including 16 adding nusinersen or risdiplam due to SMA findings following onasemnogene abeparvovec. All sat independently. Compared to children with ≥3 SMN2 copies, those with two SMN2 copies were less likely to walk (23/34 [68%] vs. 31/31 [100%], p < .001) and less likely to walk on time (9/34 [26%] vs. 29/31 [94%], p < .001); one non-ambulatory child was <18 months old and was excluded from this analysis. No patients required permanent ventilation or exclusively enteral nutrition; six required nocturnal non-invasive ventilation and four utilized supplemental enteral nutrition, all with two SMN2 copies. DISCUSSION: Early treatment of infants with SMA can improve outcomes as indicated by our cohort, all of whom sat independently and are without permanent ventilation. However, our study demonstrates ongoing disability in most children with two SMN2 copies despite early monotherapy and emphasizes the need for additional research, including earlier monotherapy, initial combination therapy, prenatal treatment, and non-SMN modifying treatments.

Assessment of post-concussion emotional symptom load using PCSS and PROMIS instruments in pediatric patients.

OBJECTIVES: The purpose of this study is to evaluate the utility of the Patient-Reported Outcomes Measurement Information System (PROMIS) anxiety and depressive symptom domains in conjunction with the Post-Concussion Symptom Scale (PCSS)for identifying pediatric patients with emotional symptoms following a concussion, and to identify predictors of higher emotional symptom loads. METHODS: We recruited English-speaking patients aged 8-17 years presenting to a tertiary-care concussion clinic from 2014 to 2018 (n = 458). Demographics and clinical data including PCSS, injury date, previous history of anxiety/depression, and Vestibular/Ocular-Motor Screen (VOMS) were collected from patients' electronic medical records. Participants completed surveys in the PROMISTM Pediatric Item Bank v1.1-Anxiety and Depressive Symptoms domains at their initial clinic visit. Multivariable linear regression identified predictors of higher emotional symptom loads. RESULTS: Overall, 425 (92.8%) reported ≥1 emotional symptom on either PROMIS or PCSS. Predictors of higher emotional symptom loads were abnormal VOMS, female sex, history of anxiety or depression, and longer time since injury. CONCLUSION: Our results suggest that adding PROMIS anxiety and depressive symptom surveys to pediatric concussion evaluations may identify more children with emotional symptoms, allowing clinicians to better direct post-concussion treatment and incorporate psychological support for patients if necessary. Future studies should examine whether earlier identification of emotional symptoms with these tools facilitates recovery and improves short- and/or long-term psychological outcomes in pediatric concussion.

Defining the volume of consultations for musculoskeletal infection encountered by pediatric orthopaedic services in the United States.

OBJECTIVE: Adequate resources are required to rapidly diagnose and treat pediatric musculoskeletal infection (MSKI). The workload MSKI consults contribute to pediatric orthopaedic services is unknown as prior epidemiologic studies are variable and negative work-ups are not included in national discharge databases. The hypothesis was tested that MSKI consults constitute a substantial volume of total consultations for pediatric orthopaedic services across the United States. STUDY DESIGN: Eighteen institutions from the Children's ORthopaedic Trauma and Infection Consortium for Evidence-based Study (CORTICES) group retrospectively reviewed a minimum of 1 year of hospital data, reporting the total number of surgeons, total consultations, and MSKI-related consultations. Consultations were classified by the location of consultation (emergency department or inpatient). Culture positivity rate and pathogens were also reported. RESULTS: 87,449 total orthopaedic consultations and 7,814 MSKI-related consultations performed by 229 pediatric orthopaedic surgeons were reviewed. There was an average of 13 orthopaedic surgeons per site each performing an average of 154 consultations per year. On average, 9% of consultations were MSKI related and 37% of these consults yielded positive cultures. Finally, a weak inverse monotonic relationship was noted between percent culture positivity and percent of total orthopedic consults for MSKI. CONCLUSION: At large, academic pediatric tertiary care centers, pediatric orthopaedic services consult on an average of ~3,000 'rule-out' MSKI cases annually. These patients account for nearly 1 in 10 orthopaedic consultations, of which 1 in 3 are culture positive. Considering that 2 in 3 consultations were culture negative, estimating resources required for pediatric orthopaedic consult services to work up and treat children based on culture positive administrative discharge data underestimates clinical need. Finally, ascertainment bias must be considered when comparing differences in culture rates from different institution's pediatric orthopaedics services, given the variability in when orthopaedic physicians become involved in a MSKI workup.