Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review

Dorinde Korteling, Jiska L.I. Musch, Janneke R. Zinkstok, Erik Boot*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a comprehensive scoping review of the relevant literature. Our findings suggest that many manifestations that are common in childhood persist into adulthood. Neuropsychiatric manifestations in adults with SMS include intellectual disability, autism spectrum- and attention deficit hyperactivity disorder-related features, self-injurious and physical aggressive behaviors, sleep–wake disorders, and seizures. Findings of this review may facilitate optimization of management strategies in adults with SMS, and may guide future studies exploring late-onset psychiatric and neurological comorbidities in SMS.

Original languageEnglish
Article numbere32956
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number2
Early online date16 Aug 2023
Publication statusPublished - Mar 2024


  • 17p11.2
  • adult
  • neurology
  • psychiatry
  • RAI1
  • Smith–Magenis syndrome


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