PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.ConclusionOur pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.

Object Minimizing secondary brain injuries after traumatic brain injury (TBI) in children is critical to maximizing neurological outcome. Brain tissue oxygenation monitoring (as measured by interstitial partial pressure of O2 [PbO2]) is a new tool that may aid in guiding therapies, yet experience in children is limited. This study aims to describe the authors' experience of PbO2 monitoring after TBI. It was hypothesized that PbO2 thresholds could be established that were associated with favorable neurological outcome, and it was determined whether any relationships between PbO2 and other important clinical variables existed. Methods Forty-six children with severe TBI (Glasgow Coma Scale score ≤ 8 after resuscitation) who underwent PbO2 and brain temperature monitoring between September 2004 and June 2008 were studied. All patients received standard neurocritical care, and 24 were concurrently enrolled in a trial of therapeutic early hypothermia (n = 12/group). The PbO2 was measured in the uninjured frontal cortex. Hourly recordings and calculated daily means of various variables including PbO2, intracranial pressure (ICP), cerebral perfusion pressure (CPP), mean arterial blood pressure, partial pressure of arterial O2, and fraction of inspired O2 were compared using several statistical approaches. Glasgow Outcome Scale scores were determined at 6 months after injury. Results The mean patient age was 9.4 years (range 0.1–16.5 years; 13 girls) and 8554 hours of monitoring were analyzed (PbO2 range 0.0–97.2 mm Hg). A PbO2 of 30 mm Hg was associated with the highest sensitivity/specificity for favorable neurological outcome at 6 months after TBI, yet CPP was the only factor that was independently associated with favorable outcome. Surprisingly, instances of preserved PbO2 with altered ICP and CPP were observed in some children with unfavorable outcomes. Conclusions Monitoring of PbO2 demonstrated complex interactions with clinical variables reflecting intracranial dynamics using this protocol. A higher threshold than reported in studies in adults was suggested as a potential therapeutic target, but this threshold was not associated with improved outcomes. Additional studies to assess the utility of PbO2 monitoring after TBI in children are needed.

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Dual-modality management of failed back surgery syndrome (FBSS) using a combination of an intrathecal opioid pump (IOP) and spinal cord stimulator (SCS) has not been investigated. The authors performed a retrospective review of 11 patients (8 men, 3 women) with FBSS who underwent nonsimultaneous surgical implantation of both an IOP and a thoracic SCS. Chart review and structured phone interviews were performed to obtain follow-up. Of the two modalities, 3 patients (27%) had an IOP placed first and 8 patients (73%) had a SCS implanted initially. Mean follow-up was 41.7 months (3-97 months). All 11 patients (100%) stated that the dual-modality treatment improved their quality of life and all continue to use both an IOP and SCS for pain control. Six patients (55%) felt that the IOP provided superior pain relief as compared to the SCS, 4 patients (36%) felt that IOP and SCS provided a similar degree of pain relief, and 1 patient (9%) said the SCS provided better pain relief than the IOP. Nine patients (82%) claimed that dual-modality treatment improved their activities of daily living. Nine patients (82%) reported that the combination of IOP and SCS treatment had allowed them to significantly decrease their oral pain medication requirements. Seven patients (64%) had hardware-related complications which required surgery; of this group, 2 patients (18%) needed more than one operation. Six patients (55%) had minor postoperative complications, which were managed nonoperatively. Overall, 10 patients (91%) were glad that they had implantation of both an IOP and SCS and would recommend this combined therapy to other patients. Dual neuroaugmentative treatment with an IOP and thoracic SCS can be safely performed and may provide satisfactory pain relief in appropriately selected patients with FBSS.

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