Seizures in trisomy 18: Prevalence, description, and treatment

Sue L. Jaspersen, Deborah A. Bruns, Meghan S. Candee, Agatino Battaglia, John C. Carey, Kristen P. Fishler

Research output: Contribution to journalArticlepeer-review


Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.

Original languageEnglish (US)
Pages (from-to)1026-1037
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 2023
Externally publishedYes


  • brain malformations
  • central apnea
  • epilepsy
  • infantile spasms
  • seizures
  • trisomy 18

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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