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Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
Neurology
March 2021
's Heeren Loo (A.R.M.), Amersfoort, the Netherlands, and Amsterdam UMC (A.R.M.), Pediatric Metabolic Diseases, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands; Pediatric Metabolic Diseases (M.M.G.B), Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands; Department of Epidemiology and Biostatistics (P.M.v.d.V.), Amsterdam UMC, Amsterdam, the Netherlands; Department of Health Evidence, Biostatistics (K.C.B.R.), Radboud University Medical Center, Radboud University, Nijmegen, the Netherlands; Department of Clinical Genetics (M.C.C.), Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, the Netherlands; Pediatric Metabolic Diseases (C.D.M.v.K.), Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands, and Department of Pediatrics (C.D.M.v.K.), Radboud University Medical Center, Radboud Centre for Mitochondrial Medicine, Nijmegen, the Netherlands; Pediatric Metabolic Diseases (F.A.W.), Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands; Medical Library (J.G.D.), Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; 's Heeren Loo (E.B.), Amersfoort, the Netherlands, and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht, the Netherlands, University Health Network (E.B.), The Dalglish Family 22q Clinic, Toronto, Ontario, Canada; and 's Heeren Loo (A.M.v.E.), Amersfoort, the Netherlands, Amsterdam UMC (A.M.v.E.), Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands, and Erasmus Medical Center (A.M.v.E.), ENCORE, Rotterdam, the Netherlands.
Objective: To improve the use of N-of-1 studies in rare genetic neurodevelopmental disorders, we systematically reviewed the literature and formulated recommendations for future studies.
Methods: The systematic review protocol was registered in the PROSPERO International Prospective Register of Systematic Reviews (CRD42020154720). EMBASE and MEDLINE were searched for relevant studies.