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.

Keywords

incidence prevalence survival Aicardi syndrome

Get full access to this article

View all access options for this article.

References

Aicardi J. , Levebre J. , Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities . Electroencephalogr Clin Neurophysiol. 1965 ;19:609-610.

Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164-171.

Aicardi J. Aicardi syndrome: old and new findings. Int Pediatr. 1999;14:5-8.

Yilmaz S. , Fontaine H. , Brochet K. , et al. Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH. Eur J Med Genet. 2007; 50:386-391.

Van den Veyver IB , Panichkul PP , Antalffy BA , et al. Presence of filamin in the astrocytic inclusions of Aicardi syndrome. Pediatr Neurol. 2004;30:7-15.

Van den Veyver IB

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

Cytogenet Genome Res. 2002;99:289-296.

Costa T. , Greer W. , Rysiecki G. , Buncic JR , Ray PN Monozygotic twins discordant for Aicardi syndrome. J Med Genet . 1997;34: 688-691.

Molina JA , Mateos F. , Merino M. , Epifanio JL , Gorrono M. Aicardi syndrome in two sisters. J Pediatr. 1989;115:282-283.

Menezes AV , MacGregor DL , Buncic JR Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol. 1994;11:313-318.

10.

Glasmacher MAK , Sutton VR , Hopkins BJ , et al. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007;22:176-184.

11.

Palmer L. , Zetterlund B. , Hard AL , et al. Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 2006;37:154-158.

12.

Ramlau-Hansen H. Smoothing counting process intensities by means of kernel functions. Ann Stat. 1983;11:453-466.

13.

Rosenbloom L. Estimating life expectancy in children with neurological disabilities. Clin Risk. 2004 ;10:12-13.

14.

Katz RT Life expectancy for children with cerebral palsy and mental retardation: implications for life care planning. Neurorehabilitation. 2003;18:261-270.

15.

Eyman RK , Call TL Life expectancy of persons with Down syndrome. Am J Ment Retard . 1991;95:603-612.

16.

Hutton JL , Pharoah POD. Life expectancy in severe cerebral palsy. Arch Dis Child. 2006;91:254-258.

17.

Blair E. , Watson L. , Badawi N. , Stanley FJ Life expectancy among people with cerebral palsy in Western Australia. Dev Med Child Neurol. 2001;43:508-515.

18.

Rosser TL , Acosta MT , Packer RJ Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females . Pediatr Neurol. 2002;27:343-346.

19.

Sutton VR , Hopkins BJ , Eble TN , et al. Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005;138:254-258.