Wolfson Children's Hospital

Craniosynostosis is defined as the premature fusion of one or more cranial sutures. Secondary craniosynostosis refers to the subsequent fusion of initially patent sutures following surgical correction of primary nonsyndromic craniosynostosis. This complication is rarely reported, and limited data exist regarding its detection and operative management. The authors present a unique case of a pediatric patient with nonsyndromic sagittal craniosynostosis treated with minimal access strip craniectomy and postoperative helmet therapy who later developed bicoronal craniosynostosis that was not present preoperatively. The secondary fusion was identified through deviations in head circumference growth and cephalic ratio measurements. For correction of the bicoronal craniosynostosis, the patient underwent posterior cranial vault distraction osteogenesis, resulting in satisfactory cranial contour restoration and a normal ophthalmologic examination at 1-year follow-up. This case underscores the importance of structured, multidisciplinary postoperative surveillance to enable early recognition of secondary craniosynostosis and demonstrates the effectiveness of posterior cranial vault distraction as a definitive corrective strategy with favorable long-term outcomes.

Florida Pediatric Bone Marrow Transplant and Cell Therapy Consortium (FPBCC) was formed in 2018 by five pediatric transplant programs in Florida. The key objectives of the consortium are to improve outcomes for children undergoing HSCT through collaboration among centers, data sharing, implementation of best practices, QI projects, and prospective clinical trials. The first step in that process was to analyze HSCT outcomes from all participating centers and identify areas for improvement. In this report, we describe the effectiveness of the activities of this consortium, focused on improving patients' outcomes. A retrospective data review of allogeneic transplant 1-year survival, obtained from the annual CIBMTR report, from the five FPBCC centers was compared to survival from 38 other pediatric centers in the country over two periods: preconsortium establishment, from 2016 to 2018, and postconsortium establishment, from 2019 to 2021. Of the 38 other pediatric centers, 22 were defined as small, similar to consortium centers by number of transplants (20-70 first allogeneic transplants per center in a 3-year period) and 16 were larger centers (> 71 first allogeneic transplants per center in a 3-year period). The 1-year posttransplant survival for the FPBCC centers significantly improved from 77.5% (2016-2018) to 89.5% (2019-2021; p = 0.0313). During the same respective time periods, other small centers improved from 82.4% to 87.9% (p = 0.0059), and large centers maintained stable survival at 85.6%-85.4% (p = 0.2676). There was a substantial improvement in the 1-year survival of allogeneic transplant recipients treated in FPBCC centers, achieved after the initiation of consortium activities. Within a 3-year period, consortium centers, which had a lower starting point, reached 1-year survival comparable to that of other small and large centers. A significant improvement in survival, although a lesser percentage of change, was seen in other programs of similar size across the country, but not in larger programs. We consider that the magnitude of improvement in survival (12% points or 4% per year), which was not seen among other programs, attests to the effectiveness of consortium activities. A blueprint for improvement in outcomes established by the FPBCC can be shared with other programs around the world that strive to improve posttransplant survival.

Purpose: Opportunities to actively engage in literacy instruction should be accessible to all students in the classroom. Shared book reading provides a literacy-based context in which teachers may adapt their communication to allow students with a range of abilities to participate. The current study examines teacher communication during shared book-reading activities to understand what specific strategies teachers are using when children with developmental disabilities are included. Method: A shared reading activity was video-recorded in one classroom with and one classroom without students with developmental disabilities. Quantity of teacher communication was measured using the Systematic Analysis of Language Transcripts (SALT) tool, while communication functions were measured by adapting the Systematic Assessment of Book Reading. Survey methods reported teachers' typical classroom literacy instruction. Results: While both teachers used similar amounts of language, the teacher with students with developmental disabilities in her classroom used more literacy-related functions (e.g., referencing letters, phonics, decoding) to discuss print concepts and slightly greater communication to support comprehension of the story. Both teachers reported rarely—if not at all—using technology as an instructional strategy. Conclusions: SALT, an adapted assessment, and survey methods may capture differences in teacher communication during shared reading within heterogeneous classrooms. Understanding more about teacher communication yields important implications for intercollaborative practice to allow support for students with a range of abilities within inclusive literacy-based instruction.

Surgical revascularization decreases the long-term risk of stroke in children with moyamoya arteriopathy but can be associated with an increased risk of stroke during the perioperative period. Evidence-based approaches to optimize perioperative management are limited and practice varies widely. Using a modified Delphi process, we sought to establish expert consensus on key components of the perioperative care of children with moyamoya undergoing indirect revascularization surgery and identify areas of equipoise to define future research priorities. Thirty neurologists, neurosurgeons, and intensivists practicing in North America with expertise in the management of pediatric moyamoya were invited to participate in a three-round, modified Delphi process consisting of a 138-item practice patterns survey, anonymous electronic evaluation of 88 consensus statements on a 5-point Likert scale, and a virtual group meeting during which statements were discussed, revised, and reassessed. Consensus was defined as ≥ 80% agreement or disagreement. Thirty-nine statements regarding perioperative pediatric moyamoya care for indirect revascularization surgery reached consensus. Salient areas of consensus included the following: (1) children at a high risk for stroke and those with sickle cell disease should be preadmitted prior to indirect revascularization; (2) intravenous isotonic fluids should be administered in all patients for at least 4h before and 24h after surgery; (3) aspirin should not be discontinued in the immediate preoperative and postoperative periods; (4) arterial lines for blood pressure monitoring should be continued for at least 24h after surgery and until active interventions to achieve blood pressure goals are not needed; (5) postoperative care should include hourly vital signs for at least 24h, hourly neurologic assessments for at least 12h, adequate pain control, maintaining normoxia and normothermia, and avoiding hypotension; and (6) intravenous fluid bolus administration should be considered the first-line intervention for new focal neurologic deficits following indirect revascularization surgery. In the absence of data supporting specific care practices before and after indirect revascularization surgery in children with moyamoya, this Delphi process defined areas of consensus among neurosurgeons, neurologists, and intensivists with moyamoya expertise. Research priorities identified include determining the role of continuous electroencephalography in postoperative moyamoya care, optimal perioperative blood pressure and hemoglobin targets, and the role of supplemental oxygen for treatment of suspected postoperative ischemia.

We sought to examine current practices and changes in practice regarding initial counseling for families of patients with hypoplastic left heart syndrome (HLHS) given the evolution of options and outcomes over time. Counseling (Norwood with Blalock-Taussig-Thomas shunt (NW-BTT), NW with right ventricle to pulmonary artery conduit (NW-RVPA), hybrid palliation, heart transplantation, or non-intervention/hospice (NI)) for patients with HLHS were queried via questionnaire of pediatric care professionals in 2021 and compared to identical questionnaire from 2011. Of 322 respondents in 2021 (39% female), 299 respondents were cardiologists (92.9%), 17cardiothoracic surgeons (5.3%), and 6 were nurse practitioners (1.9%). Respondents were largely from North America (96.9%). In 2021, NW-RVPA procedure was the preferred palliation for standard risk HLHS patient (61%) and was preferred across all US regions (p < 0.001). NI was offered as an option by 71.4% of respondents for standard risk patients and was the predominant strategy for patients with end-organ dysfunction, chromosomal abnormality, and prematurity (52%, 44%, and 45%, respectively). The hybrid procedure was preferred for low birth-weight infants (51%). In comparison to the identical 2011 questionnaire (n = 200), the NW-RVPA was endorsed more in 2021 (61% vs 52%, p = 0.04). For low birth-weight infants, hybrid procedure was more recommended than in 2011 (51% vs 21%, p < 0.001). The NW-RVPA operation is the most recommended strategy throughout the US for infants with HLHS. The hybrid procedure for low birth-weight infants is increasingly recommended. NI continues to be offered even in standard risk patients with HLHS.

Background & AimsHepatoblastoma (HB) and hepatocellular carcinoma (HCC) are the predominant liver cancers in children, though their respective treatment options and associated outcomes differ dramatically. Risk stratification using a combination of clinical, histological, and molecular parameters can improve treatment selection, but it is particularly challenging for tumors with mixed histological features, including those in the recently created hepatocellular neoplasm not otherwise specified (HCN NOS) provisional category. We aimed to perform the first molecular characterization of clinically annotated cases of HCN NOS.MethodsWe tested whether these histological features are associated with genetic alterations, cancer gene dysregulation, and outcomes. Namely, we compared the molecular features of HCN NOS, including copy number alterations, mutations, and gene expression profiles, with those in other pediatric hepatocellular neoplasms, including HBs and HCCs, as well as HBs demonstrating focal atypia or pleomorphism (HB FPAs), and HBs diagnosed in older children (>8).ResultsMolecular profiles of HCN NOS and HB FPAs revealed common underlying biological features that were previously observed in HCCs. Consequently, we designated these tumor types collectively as HBs with HCC features (HBCs). These tumors were associated with high mutation rates (∼3 somatic mutations/Mb) and were enriched with mutations and alterations in key cancer genes and pathways. In addition, recurrent large-scale chromosomal gains, including gains of chromosomal arms 2q (80%), 6p (70%), and 20p (70%), were observed. Overall, HBCs were associated with poor clinical outcomes.ConclusionsOur study indicates that histological features seen in HBCs are associated with combined molecular features of HB and HCC, that HBCs are associated with poor outcomes irrespective of patient age, and that transplanted patients are more likely to have good outcomes than those treated with chemotherapy and surgery alone. These findings highlight the importance of molecular testing and early therapeutic intervention for aggressive childhood hepatocellular neoplasms.Lay summaryWe molecularly characterized a class of histologically aggressive childhood liver cancers and showed that these tumors are clinically aggressive and that their observed histological features are associated with underlying recurrent molecular features. We proposed a diagnostic algorithm to identify these cancers using a combination of histological and molecular features, and our analysis suggested that these cancers may benefit from specialized treatment strategies that may differ from treatment guidelines for other childhood liver cancers.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, genetically-inherited cardiomyopathy that may be fatal. We present the case of a 17 year old male who presented after a witnessed cardiac arrest with indeterminate echocardiogram and electrocardiogram (ECG) findings for a specific etiology. Genetic testing revealed a mutation in the PKP2 and DSC2 genes, consistent with ARVC. This report outlines the presentation of ARVC as an aborted sudden cardiac death episode in a previously asymptomatic teenager, investigations for ARVC and highlights the importance of adequate cardiopulmonary resuscitation in the overall prognosis. Implantable cardiac defibrillator (ICD) placement for secondary prevention is necessary.