Health Research BC is providing match funds for this research project, which is funded by the Canadian Institutes of Health Research’s (CIHR) Strategy for Patient-Oriented Research (SPOR) Networks in Chronic Disease.
As many as 850,000 children in Canada are living with a brain-based developmental disability (BDD). They face lifelong challenges with mobility, language, learning, socialization and self-care, which impacts their quality of life and create special challenges for their families. They also typically have poorer health, lower educational achievement, fewer economic opportunities and higher rates of poverty than children without disabilities.
CHILD-BRIGHT is a pan-Canadian network of clinicians, patients, families and scientists committed to making the future brighter for infants, children and youth with lifelong brain-based developmental disabilities and their families. The five-year project focuses on those diagnosed with a brain-based disorder such as autism, cerebral palsy, fetal alcohol spectrum disorder, learning or intellectual disabilities, as well as those at high risk for a brain-based developmental disability due to pre-term delivery, congenital heart disease, or genetic anomalies.
Dr. Dan Goldowitz, a professor of Medical Genetics at UBC and the Centre for Molecular Medicine and Therapeutics at the BC Children’s Hospital Research Institute, is one of CHILD-BRIGHT’s three co-directors, along with Drs. Steven Miller at University of Toronto/The Hospital for Sick Children (SickKids), and Network Director Annette Majnemer of McGill University Health Centre’s Research Institute.
CHILD-BRIGHT’S 12 patient-oriented research projects fall under three themes: “Bright Beginnings” – innovative early therapies to optimize brain and developmental outcomes; “Bright Supports” – integrating mental health and wellness support into care for children and youth, and “Bright Futures” – re-designing key parts of health care services to be more responsive to family needs, throughout the trajectory of the child’s and the family’s development.
Goldowitz is overseeing the network’s training program. His UBC team will engage with patients, researchers and policy-makers to foster a culture of patient-oriented research that could help serve as a model for future health research and lead to better outcomes for patients and their families.
Training Program – CHILD-BRIGHT’s Training Program has worked to develop capacity in patient-oriented research (POR) to ensure that authentic patient-partner engagement is fundamental to the research process. To this end, regular training offerings such as webinars, workshops, and self-directed modules, have been critical. However, initiatives that strive towards changing the research culture around POR will have a far lasting impact. For instance, the Summer Studentship Training Program exposes undergraduate students to the core tenets of POR while providing opportunities to gain practical experience within a CHILDBRIGHT research project. Funding initiatives such as the “Graduate Student Fellowship in POR” provides support to graduate trainees or postdoctoral fellows to augment a research project to involve the patient-partner voice. Together, outputs like this help create capacity for POR in tomorrow’s research leaders.
Parent-EPIQ – In the Parent-EPIQ studies, we found that we need to revise how we talk about the futures of children born very preterm. Parents want a broader perspective with positive and negative outcomes including functioning, quality of life and family wellbeing. We also successfully implemented interventions to improve language abilities in children born preterm using the proven EPIQ quality improvement technique with parent involvement. Lastly, we provided up to date Canadian information for parents and health care providers in four annual reports.
IMAGINE – This project has determined that approximately half of children affected with symptoms of atypical cerebral palsy can be provided with a genetic diagnosis when trio whole genome sequencing is used. We also determined that trio whole genome sequencing is superior in diagnostic power to the currently used clinical exome sequencing. Bioinformatics pipelines were created to optimize diagnoses via these whole genome methods. These have been presented and published or are in press. Several patient-facing tools were developed for this project, in conjunction with parent-partners associated with the project. All were well accepted and appreciated, which supports the advantages of parent partner involvement.
PIUO – Many infants, children and youth with rare diseases and complex conditions affecting the central nervous system often experience pain and irritability. Sometimes the pain is due to medical procedures such as scoliosis repairs, or due to chronic conditions such as muscle spasms. There are, however, many times when it is difficult to find a source as these children often have severe language delays. Engaging clinicians in assessing and treating PIUO using history, physical examinations, diagnostic tests, and screens to rule out unknown causes of indeterminate pain has influenced the way this issue is being treated clinically. The pathway also provides support and guidance for parents of these children.
Parent-EPIQ – As a result of the Parent-EPIQ project, our work has highlighted what parents view as important: functioning, quality of life and family well-being. These areas are not currently captured in data collection as part of the Canadian Neonatal Follow Up Network. This major impact of work has been taking steps to shift the paradigm of reported outcomes in neonatal follow up research using these findings through changes to our annual report and data collection, implementing recommendations from parents of preterm children, and considering parent perspectives when reviewing and evaluating data requests and future research.
IMAGINE – The results of this project have provided a diagnosis to families who previously had no etiology for their child or children’s problems. This has provided an explanation for these families, and in many cases genetic counseling has provided information on the trajectory of the illness, risk to other family members and to future pregnancies. An understanding of etiology enables treatment options to be considered. One of the patient-facing tools, the Genomic Results Booklet, has been tested in clinical usage in the BC Children’s Hospital Pediatric Neurology. This clinic has seen the importance and advantages of providing post-testing information in this format. A research paper is currently under development that describes the impact of this tool in clinical use.
PIUO – Many infants, children and youth with rare diseases and complex conditions affecting the central nervous system often experience pain and irritability. Sometimes the pain is due to medical procedures such as scoliosis repairs, or due to chronic conditions such as muscle spasms. There are, however, many times when it is difficult to find a source as these children often have severe language delays. Engaging clinicians in assessing and treating PIUO using history, physical examinations, diagnostic tests and screens to rule out unknown causes of indeterminate pain has influenced the way this issue is being treated clinically. The pathway also provides support and guidance for parents of these children.
Parent-EPIQ – We have leveraged powerful partnerships with parents and collaborations with advocacy groups to co-create resources and materials that directly reach families. Not only have we been able to disseminate our research findings through traditional academic publications, but we have pursued innovative and novel avenues to benefit more families and more children born preterm which is the ultimate objective of our work. Our research is being noticed. PI Dr. Synnes was invited to present results in Seoul, Korea and virtually to Boston Children’s Hospital in the fall of 2023.
IMAGINE – This project has provided evidence for the efficacy of the diagnostic and clinical care used: (1) approach of whole genome sequencing (2) bioinformatics pipeline, and (3) has demonstrated the advantages of parent involvement throughout. We hope that the presentations and academic papers produced will provide a framework for best practices for similar families.
PIUO – Our co-investigators were invited to speak in Prince George’s Northern University Hospital, and locally in several outreach clinics and hospital rounds about our pain pathway protocol. Our wider impact via the academic literature remains to be determined as we await statistical analysis for write up in research journals.
Parent-EPIQ – In this work, we have identified specific assessment tools to measure parent-identified outcomes. Future research will involve the feasibility of implementing these tools into routine data collection as part of the Canadian Neonatal Follow Up Network. The next steps will include leveraging the success of the CHILD-BRIGHT Phase 1 Parent-EPIQ project to start work on the CHILD-BRIGHT Phase 2 project: “Implementing Patient-Reported Outcome Measures (PROMs) in follow-up care of preterm children using a hybrid implementation-effectiveness design”.
IMAGINE – Our next steps include efforts towards knowledge mobilization and implementation science to identify how best to integrate what we have learned in this study into clinical practice. Future research will continue to finesse bioinformatics methods and re-examination of as-yet undiagnosed children. We are working on challenging variants that include complex sequence repeats and rearrangements.
PIUO – Our next steps will be to complete data analysis and use the results to inform an implementation science project as part of CHILD-BRIGHT Phase 2, which will allow our team to expand the pain pathway to pediatricians across BC.