TY - JOUR
T1 - Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders
T2 - The Power of 1
AU - Müller, Annelieke R
AU - Brands, Marion Mmg
AU - van de Ven, Peter M
AU - Roes, Kit Cb
AU - Cornel, Martina C
AU - van Karnebeek, Clara Dm
AU - Wijburg, Frits A
AU - Daams, Joost G
AU - Boot, Erik
AU - van Eeghen, Agnies M
N1 - Publisher Copyright: Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. Copyright: This record is sourced from MEDLINE/PubMed, a database of the U.S. National Library of Medicine
PY - 2021/3/16
Y1 - 2021/3/16
N2 - 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. Information was recorded on types of interventions, outcome measures, validity, strengths, and limitations using standard reporting guidelines and critical appraisal tools. Qualitative and descriptive analyses were performed. RESULTS: Twelve studies met the N-of-1 inclusion criteria, including both single trials and series. Interventions were mainly directed to neuropsychiatric manifestations. Main strengths were the use of personalized and clinically relevant outcomes in most studies. Generalizability was compromised due to limited use of validated and generalizable outcome measures. CONCLUSION: N-of-1 studies are sporadically reported in rare genetic neurodevelopmental disorders. Properly executed N-of-1 studies may provide a powerful alternative to larger randomized controlled trials in rare disorders and a much needed bridge between practice and science. We provide recommendations for future N-of-1 studies in rare genetic neurodevelopmental disorders, ultimately optimizing evidence-based and personalized care.
AB - 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. Information was recorded on types of interventions, outcome measures, validity, strengths, and limitations using standard reporting guidelines and critical appraisal tools. Qualitative and descriptive analyses were performed. RESULTS: Twelve studies met the N-of-1 inclusion criteria, including both single trials and series. Interventions were mainly directed to neuropsychiatric manifestations. Main strengths were the use of personalized and clinically relevant outcomes in most studies. Generalizability was compromised due to limited use of validated and generalizable outcome measures. CONCLUSION: N-of-1 studies are sporadically reported in rare genetic neurodevelopmental disorders. Properly executed N-of-1 studies may provide a powerful alternative to larger randomized controlled trials in rare disorders and a much needed bridge between practice and science. We provide recommendations for future N-of-1 studies in rare genetic neurodevelopmental disorders, ultimately optimizing evidence-based and personalized care.
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UR - https://www.ncbi.nlm.nih.gov/pubmed/33504638
U2 - https://doi.org/10.1212/WNL.0000000000011597
DO - https://doi.org/10.1212/WNL.0000000000011597
M3 - Review article
C2 - 33504638
SN - 0028-3878
VL - 96
SP - 529
EP - 540
JO - Neurology
JF - Neurology
IS - 11
ER -