New incidence, prevalence, and survival of Aicardi syndrome from 408 cases

J Child Neurol. 2008 May;23(5):531-5. doi: 10.1177/0883073807309782. Epub 2008 Jan 8.


We sought to determine the incidence, prevalence, and life expectancy of Aicardi syndrome from 408 cases compiled from multiple international sources. Last known age ranged from less than 1 month to 42 years. The incidence rates per live births for the United States and The Netherlands were 1 per 105 000 and 1 per 93 000, respectively. The prevalence in the United States is greater than 853 cases, and the worldwide estimate is several thousand. Forty-five cases were deceased (age range, 1 month to 33 years), and the risk of death peaked at age 16. The probability of survival at 27 years of age was 0.62 (95% CI, 0.47-0.77). The risk of death by age follows other congenital neurological disorders with a wide range in severity of functional disability. The longer life expectancy found in our study hints at a higher functioning capacity in Aicardi syndrome and may inform counseling to families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • Incidence
  • Klinefelter Syndrome / complications
  • Klinefelter Syndrome / epidemiology*
  • Klinefelter Syndrome / mortality*
  • Life Expectancy
  • Male
  • Nervous System Diseases / complications
  • Nervous System Diseases / epidemiology*
  • Nervous System Diseases / mortality*
  • Prevalence
  • Risk Factors
  • Survival Analysis