ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co-occurrence of neuroblastic tumors have fueled suspicion of an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Our objective is to determine if an autoimmune paraneoplastic etiology underlies ROHHAD. Methods: Immunoglobulin G (IgG) from pediatric ROHHAD patients (n = 9), non-inflammatory individuals (n = 100) and relevant pediatric controls (n = 25) was screened using a programmable phage display of the human peptidome (PhIP-Seq). Putative ROHHAD-specific autoantibodies were orthogonally validated using radioactive ligand binding and cell-based assays. Expression of autoantibody targets in ROHHAD tumor and healthy brain tissue was assessed with immunohistochemistry and mass spectrometry, respectively. Results: Autoantibodies to ZSCAN1 were detected in ROHHAD patients by PhIP-Seq and orthogonally validated in 7/9 ROHHAD patients and 0/125 controls using radioactive ligand binding and cell-based assays. Expression of ZSCAN1 in ROHHAD tumor and healthy human brain tissue was confirmed. Interpretation: Our results support the notion that tumor-associated ROHHAD syndrome is a pediatric PNS, potentially initiated by an immune response to peripheral neuroblastic tumor. ZSCAN1 autoantibodies may aid in earlier, accurate diagnosis of ROHHAD syndrome, thus providing a means toward early detection and treatment. This work warrants follow-up studies to test sensitivity and specificity of a novel diagnostic test. Last, given the absence of the ZSCAN1 gene in rodents, our study highlights the value of human-based approaches for detecting novel PNS subtypes.

There is no widely accepted protocol for management of infants with Robin sequence (RS) who present with airway obstruction and feeding impairment. The purposes of this study were to evaluate diagnostic and treatment preferences of clinicians from the United States and non-US countries and to use these data to propose an algorithm for early management of infants with RS.Materials and Methods: A cross-sectional study was implemented using a survey, which was distributed to craniofacial surgeons and non-surgeon physicians involved in management of infants with RS. Predictor variables were nationality, specialty, and surgical volume. Outcome variables included survey responses regarding preferences for evaluation and early treatment of patients with RS. A diagnostic and early treatment algorithm was proposed based on the most common survey responses. Descriptive and analytic statistics were calculated and a P less than .05 was considered significant.Results: A total of 275 responses were received and 82 were excluded, leaving a final sample of 193 participants: 155 (80%) surgeons and 38 (20%) non-surgeon physicians. Thirty-seven US states were represented by 143 (74%) respondents and 50 (26%) participants were from 19 non-US countries. There were 96 (50%) low-volume and 97 (50%) high-volume respondents. There was general agreement in methods for evaluation and early treatment among respondents; the only significant differences were 1) US surgeons operate earlier to address airway obstruction than those from other countries (P = .001), 2) high-volume providers tend to operate earlier (P = .017) and to choose mandibular distraction more frequently (P = .003) than low-volume respondents, and 3) mandibular distraction is the preferred operation in the United States, but several operations for airway improvement are used equally in non-US countries (P < .001). Conclusion:Despite variation in the evaluation and treatment of infants with RS, this international and multispecialty survey showed trends that could represent best practices. An algorithm based on these findings is proposed.

Asthma is the most common chronic pediatric condition. Effective asthma management requires a proactive and inclusive approach that controls the patient's symptoms and prevents recurrence of exacerbations. Clinicians should encourage patients to become involved in their management since self-management approaches have proven to be an effective means for chronic illness treatment. Novel forms of self-monitoring and management are technological interventions. In the last decade, novel technology has been developed and used to improve asthma control since it is a powerful agent that addresses a variety of challenges in chronic disease management such as education, communication and adherence. A myriad of technology-based strategies are available although many of these are not evidence based and further studies are needed to evaluate their efficacy in specific asthma-control endpoints. Herein, authors present a review of current and future technology-based options for asthma management and a comparison between them.