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Methylphenidate for ADHD in Smith-Magenis syndrome713ConclusionThis N-of-1 study will allow the delivery of personalized care while acquiring evidence of MPH for ADHD in the SMS population. We expect that use of the N-of-1 methodology and patient-centered outcome measures will assist in realizing the urgently needed evidence-based interventions in patients with rare genetic neurodevelopmental disorders. This protocol will be applicable for other genetic syndromes, and more N-of-1 series will allow cross-disorder comparisons and investigation of generalizability to the whole population with these disorders and/or ID. This study protocol can be used as a model to empower other clinician-researchers to investigate much-needed symptomatic pharmacological as well as disease-modifying interventions in rare disorders using a collaborative and multi-disciplinary approach.AcknowledgementsThe authors would like to thank the Dutch SMS patient advocacy organization (Stichting Smith Magenis Syndroom Nederland) and Charlotte Gaasterland and Hanneke van der Lee for their feedback on the study protocol.FundingThe trial is financially sponsored by the Amsterdam UMC and health care institution ‘s Heeren Loo.Competing interestsThe authors declare that they have no competing interest.Authors’ contributionsAM, EdR and AvE proposed the study and initiated the design. AM and AvE wrote the study protocol with input from NR, EB, JZ, and FW. KR provided methodological expertise and PvdV designed the statistical analysis and will conduct the analyses. AM and AvE drafted the manuscript. All authors read and approved the final manuscript.Annelieke Muller sHL.indd 71 14-11-2023 09:07