title: New incidence, prevalence, and survival of Aicardi syndrome from 408 cases.
abstract: 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.
authors.affiliation: RTI International, Rockville, MD 20852, USA. byk@rti.org
authors.forename: Barbara L
authors.initials: BL
authors.lastname: Kroner
authors.forename: Liliana R
authors.initials: LR
authors.lastname: Preiss
authors.forename: Mary-Anne
authors.initials: MA
authors.lastname: Ardini
authors.forename: William D
authors.initials: WD
authors.lastname: Gaillard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007713:Klinefelter Syndrome / Q000150:complications / Q000453:epidemiology* / Q000401:mortality*; D008017:Life Expectancy; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000453:epidemiology* / Q000401:mortality*; D015995:Prevalence; D012307:Risk Factors; D016019:Survival Analysis