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Background16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient “self-phenotyping” survey to collect data directly from patients to further characterize the phenotypes of 16p13.11 microduplication syndrome. ObjectiveThis study aimed to (1) discover self-identified phenotypes in 16p13.11 microduplication syndrome that have been underrepresented in the scientific literature and (2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities. MethodsAs part of a large study to compare and evaluate patient self-phenotyping surveys, an online survey tool, Phenotypr, was developed for patients with rare disorders to self-report phenotypes. Participants with 16p13.11 microduplication syndrome were recruited through the Boston Children's Hospital 16p13.11 Registry. Either the caregiver, parent, or legal guardian of an affected child or the affected person (if aged 18 years or above) completed the survey. Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis. ResultsA total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome. ConclusionsSeveral phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.

BackgroundHospitals today are introducing new mobile apps to improve patient care and workflow processes. Mobile device adoption by hospitals fits with present day technology behavior; however, requires a deeper look into hospital device policies and the impact on patients, staff, and technology development. Should hospitals spend thousands to millions of dollars to equip all personnel with a mobile device that is only used in a hospital environment? Allowing health care professionals to use personal mobile devices at work, known as bring-your-own-device (BYOD), has the potential to support both the hospital and its employees to deliver effective and efficient care. ObjectiveThe objectives of this research were to create a mobile app development guideline for a BYOD hospital environment, apply the guideline to the development of an in-house mobile app called TaskList, pilot the TaskList app within Boston Children’s Hospital (BCH), and refine the guideline based on the app pilot. TaskList is an Apple operating system (iOS)-based app designed for medical residents to monitor, create, capture, and share daily collaborative tasks associated with patients. MethodsTo create the BYOD guidelines, we developed TaskList that required the use of mobile devices among medical resident. The TaskList app was designed in four phases: (1) mobile app guideline development, (2) requirements gathering and developing of TaskList fitting the guideline, (3) deployment of TaskList using BYOD with end-users, and (4) refinement of the guideline based on the TaskList pilot. Phase 1 included understanding the existing hospital BYOD policies and conducting Web searches to find best practices in software development for a BYOD environment. Phase 1 also included gathering subject matter input from the Information Services Department (ISD) at BCH. Phase 2 involved the collaboration between the Innovation Acceleration Program at BCH, the ISD Department and the TaskList Clinical team in understanding what features should be built into the app. Phase 3 involved deployment of TaskList on a clinical floor at BCH. Lastly, Phase 4 gathered the lessons learned from the pilot to refine the guideline. ResultsFourteen practical recommendations were identified to create the BCH Mobile Application Development Guideline to safeguard custom applications in hospital BYOD settings. The recommendations were grouped into four categories: (1) authentication and authorization, (2) data management, (3) safeguarding app environment, and (4) remote enforcement. Following the guideline, the TaskList app was developed and then was piloted with an inpatient ward team. ConclusionsThe Mobile Application Development guideline was created and used in the development of TaskList. The guideline is intended for use by developers when addressing integration with hospital information systems, deploying apps in BYOD health care settings, and meeting compliance standards, such as Health Insurance Portability and Accountability Act (HIPAA) regulations.

Background: Electronic health record (EHR)-integrated digital personal health records (PHRs) via Fast Healthcare Interoperability Resources (FHIR) are promising digital health tools to support care coordination (CC) for children and youth with special health care needs but remain widely unadopted; as their adoption grows, mixed methods and implementation research could guide real-world implementation and evaluation., Objective: This study (1) evaluates the feasibility of an FHIR-enabled digital PHR app for CC for children and youth with special health care needs, (2) characterizes determinants of implementation, and (3) explores associations between adoption and patient- or family-reported outcomes., Methods: This nonrandomized, single-arm, prospective feasibility trial will test an FHIR-enabled digital PHR app's use among families of children and youth with special health care needs in primary care settings. Key app features are FHIR-enabled access to structured data from the child's medical record, families' abilities to longitudinally track patient- or family-centered care goals, and sharing progress toward care goals with the child's primary care provider via a clinician dashboard. We shall enroll 40 parents or caregivers of children and youth with special health care needs to use the app for 6 months. Inclusion criteria for children and youth with special health care needs are age 0-16 years; primary care at a participating site; complex needs benefiting from CC; high hospitalization risk in the next 6 months; English speaking; having requisite technology at home (internet access, Apple iOS mobile device); and an active web-based EHR patient portal account to which a parent or caregiver has full proxy access. Digital prescriptions will be used to disseminate study recruitment materials directly to eligible participants via their existing EHR patient portal accounts. We will apply an intervention mixed methods design to link quantitative and qualitative (semistructured interviews and family engagement panels with parents of children and youth with special health care needs) data and characterize implementation determinants. Two CC frameworks (Pediatric Care Coordination Framework; Patient-Centered Medical Home) and 2 evaluation frameworks (Consolidated Framework for Implementation Research; Technology Acceptance Model) provide theoretical foundations for this study., Results: Participant recruitment began in fall 2022, before which we identified >300 potentially eligible patients in EHR data. A family engagement panel in fall 2021 generated formative feedback from family partners. Integrated analysis of pretrial quantitative and qualitative data informed family-centered enhancements to study procedures., Conclusions: Our findings will inform how to integrate an FHIR-enabled digital PHR app for children and youth with special health care needs into clinical care. Mixed methods and implementation research will help strengthen implementation in diverse clinical settings. The study is positioned to advance knowledge of how to use digital health innovations for improving care and outcomes for children and youth with special health care needs and their families., Trial Registration: ClinicalTrials.gov NCT05513235; https://clinicaltrials.gov/study/NCT05513235., International Registered Report Identifier (irrid): DERR1-10.2196/46847., (©David Y Ming, Willis Wong, Kelley A Jones, Richard C Antonelli, Nitin Gujral, Sarah Gonzales, Ursula Rogers, William Ratliff, Nirmish Shah, Heather A King. Originally published in JMIR Research Protocols (https://www.researchprotocols.org), 20.09.2023.)