A Scoping Review to Examine the Extent and Quality of Literature on Symptoms in Children with Rare, Progressive Disorders

There are conditions in childhood that seem to be rare, but together affect thousands of Canadians. Unfortunately, some of these diseases are severe, progressive and ultimately terminal. Often the disease arises due to problems in the nervous system, energy system or the chromosomes (neurological-metabolic-chromosomal) and are often called Quadrant 3 or Q3 conditions. A significant effort has gone into studying the genetic causes of Q3 conditions and in trying to find cures. For a few diseases these efforts have succeeded, but for many Q3 diseases the hunt for a cure continues. In the meantime, clinicians have an obligation to do their best to improve the quality of life for these children. Physicians, nurses and therapists working in the fields of pediatric palliative care and complex care focus on diagnosing and treating symptoms; they need to have the best evidence possible to do this work. Our clinical experience and our preliminary examination of the research suggest that not enough is known about evaluating and treating challenging symptoms in children with (Q3) conditions. We propose to undertake a scoping review of the literature to find out how much is known about assessment tools to evaluate symptoms, and treatments to relieve them, in childhood Q3 conditions. A scoping review is a first, broad level review of the literature and sets the stage for future research. The scoping review will tell researchers what is known and unknown in a field directing them to future research. It will help clinicians better understand where knowledge gaps are hindering their efforts and identify knowledge concentrations of useful information. The purpose of this proposed scoping review is to systematically map literature about the treatment of symptoms in children with Q3 conditions. There are 11 important symptoms that affect children and it is urgent that we survey that literature. These symptoms are behaviour problems; bowel incontinence; breathing difficulties; constipation; feeding difficulty; secretions; sleep disturbance; temperature regulation; tone and motor problems; urinary incontinence; and vomiting. A scoping review by 2 members of our team is underway regarding pain, and a great deal is known about seizures already - these are excluded. This proposal is built upon a solid foundation from other studies conducted by our team members and funded by CIHR (CIHR MOP-89984), which helped us learn more about caring for children and families who live with Q3 and other severe, progressive conditions. We will use a phased approach with databases to scan the known literature on symptoms in children with Q3 conditions working with research investigators, clinicians and a health librarian. The team will analyze the publications in detail and report on the scope and quality of the work. We have a multi-pronged strategy ready to bring the results of this scoping review to clinicians and to researchers. We will make good use of the many networks and cross-linkages shared across the health care providers and investigators in pediatric palliative and complex care in Canada. As a result of this project clinicians will be better informed about the evidence available to them. Researchers will have an evidence-based priority to strategize the next steps in research. We are confident that this work will help the field see an emerging map of the state of knowledge in this challenging field.