Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Autor:	Paik K; Department of Biology, Faculty of Science, University of Ottawa, Ottawa, Ontario, Canada., Lines MA; Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Chakraborty P; Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Khangura SD; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada., Latocki M; MitoCanada Foundation, Calgary, Alberta, Canada., Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Brunel-Guitton C; Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Khan A; Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Penny B; MitoCanada Foundation, Calgary, Alberta, Canada., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, The University of Manitoba, Winnipeg, Manitoba, Canada.; Winnipeg Children's Hospital, Winnipeg, Manitoba, Canada.; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada., Rupar CA; Biochemical Genetics Laboratory, Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.; Departments of Biochemistry, Pediatrics and Child Health Research Institute, Western University, London, Ontario, Canada., Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Tarnopolsky M; Neuromuscular and Neurometabolic Clinic, McMaster University Medical Center, Hamilton, Ontario, Canada., Tingley K; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada., Coyle D; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada., Dyack S; IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.; Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Feigenbaum A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Geraghty MT; Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Gillis J; BC Children's Hospital, Vancouver, British Columbia, Canada., van Karnebeek CDM; Department of Pediatrics, BC Children's Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital, Vancouver, British Columbia, Canada., Kronick JB; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Little J; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada., Potter M; Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University, Hamilton, Ontario, Canada., Siriwardena K; University of Alberta, Stollery Children's Hospital, Edmonton, Alberta, Canada., Sparkes R; Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Turner LA; Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada., Wilson K; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Buhas D; McGill University Health Centre, Montreal, Quebec, Canada., Potter BK; School of Epidemiology & Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Jazyk:	angličtina
Zdroj:	The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2019 Nov; Vol. 46 (6), pp. 717-726.
DOI:	10.1017/cjn.2019.240
Abstrakt:	Background: An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care. Methods: We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities. Results: We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend "mitochondrial cocktails" for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority. Conclusions: While Canadian physicians' views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu