SynthesisNeurology2021
Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
Registry-linked trialAbstract readSystematic Review
In one paragraph
Synthesis in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06855901 (Home Ultra-longterm EEG Monitoring for Rare Epilepsies and Developmental and Epileptic Encephalopathies. an Open Label Nonpharmacological Interventional Prospective Study by Means of Minimally Invasive Wearable EEG Device), which is not on this map. Cited by 36 papers.
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36citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Home Ultra-longterm EEG Monitoring for Rare Epilepsies and Developmental and Epileptic Encephalopathies. an Open Label Nonpharmacological Interventional Prospective Study by Means of Minimally Invasive Wearable EEG Device
Who cites it
36 citing papers in PubMed.
- Tamsulosin Deprescribing for Lower Urinary Tract Symptoms in Older Men: A Randomized Clinical Trial.JAMA network open · 2026Trial
- Mixed Response Patterns to a Virtual Reality Intervention targeting Trauma-related Shame in Adolescents after Sexual Abuse: A Single-Case Experimental Design.Child psychiatry and human development · 2026Article
- RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Patient advocacy group perspectives on treatment priorities and clinical trials for the rare neurodevelopmental condition, Prader-Willi syndrome.Orphanet journal of rare diseases · 2026Article
- Evaluation of statistical methods in R for estimating intervention effects using segmented linear regression in the AB interrupted time series design.BMC medical research methodology · 2026Article
- Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies.Orphanet journal of rare diseases · 2025Review
- Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.Epilepsia · 2025Observational
- Considerations for mRNA Product Development, Regulation and Deployment Across the Lifecycle.Vaccines · 2025Review
- CTGCT, Centre of Excellence for the Technologies of Gene and Cell Therapy: Collaborative translation of scientific discoveries into advanced treatments for neurological rare genetic diseases and cancer.Computational and structural biotechnology journal · 2025Article
- A conceptual model and practical guidance for the development, administration, and evaluation of individualized therapies.Frontiers in medicine · 2025Article
- A methodological review of randomised n-of-1 trials.Trials · 2024Review
- Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research.The Journal of clinical investigation · 2024Article
- Article
- Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Article
- Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.Annals of clinical and translational neurology · 2024Article
- Orphan drug development: Challenges, regulation, and success stories.Journal of biosciences · 2024Article
- Steps to Improve Precision Medicine in Epilepsy.Molecular diagnosis & therapy · 2023Article
- Rare disease informs mechanism and possible treatment of statin-associated myopathy.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.Epilepsia · 2022Review
- Top 10 Research Themes for Dystonia in Cerebral Palsy: A Community-Driven Research Agenda.Neurology · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Annelieke R Müller'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.ORCID 0000-0002-2672-9989
Marion M M G Brands'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.
Peter M van de Ven'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.
Kit C B Roes'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.ORCID 0000-0002-6775-1963
Martina C Cornel'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.ORCID 0000-0002-5397-5544
Clara D M van Karnebeek'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.ORCID 0000-0003-3352-5631
Frits A Wijburg'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.
Joost G Daams'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.ORCID 0000-0002-8025-4961
Erik Boot'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.ORCID 0000-0002-0593-1539
Agnies M van Eeghen'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. a.m.vaneeghen@amsterdamumc.nl.ORCID 0000-0001-8149-8645
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo improve the use of N-of-1 studies in rare genetic neurodevelopmental disorders, we systematically reviewed the literature and formulated recommendations for future studies.
methodsThe 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.
resultsTwelve 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.
conclusionN-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.
Indexed as
Genetic Predisposition to DiseaseNeurodevelopmental DisordersHumansRandomized Controlled Trials as Topic
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LicenceCC BY-NC-ND
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Registered trials
NCT06855901ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.