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Aicardi syndrome: natural history and possible predictors of severity
A V Menezes1, D L MacGregor, J R Buncic
1Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
Aicardi syndrome, a rare genetic disorder, significantly impacts survival, with a 40% survival rate at 15 years. Early neurological features do not predict long-term outcomes for affected girls.
Area of Science:
- Genetics and Neurology
- Pediatric rare diseases
Background:
- Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
- It predominantly affects females, leading to severe cognitive and physical disabilities, and epilepsy.
Purpose of the Study:
- To document the natural history and survival estimates for Aicardi syndrome.
- To examine the relationship between early neurological features and clinical outcomes in affected individuals.
Main Methods:
- Retrospective review of 14 patients diagnosed with Aicardi syndrome.
- Life-table analysis was used to estimate survival rates.
- Correlation analysis between 28 infantile neurological features and later mobility/cognitive function.
Main Results:
- Estimated survival rates were 76% at 6 years and 40% at 15 years.
- Only 21% of patients achieved mobility (walking or crawling), and 29% had some language ability.
- No significant correlation was found between 28 neurological features and ultimate clinical outcome.
Conclusions:
- Aicardi syndrome has a significant impact on long-term survival.
- Early neurological signs are not predictive of functional outcomes.
- Findings underscore the need for comprehensive counseling for parents regarding prognosis.
Abstract:
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are girls with severe cognitive and physical handicaps, and epilepsy. Fourteen patients with Aicardi syndrome, seen at The Hospital for Sick Children, Toronto, Ontario, Canada, between 1975 and 1992, were reviewed to document the natural history of the disease and obtain life-table estimates of survival. The relationship between 28 neurologic features present in infancy and clinical outcome, as measured by mobility and cognitive function also was examined. Life-table analysis indicated that the estimated survival rate was 76% at 6 years of age and 40% at 15 years of age. Three of the 14 girls (21%) could walk or crawl and 4 (29%) had some language ability. None of the 28 neurologic features was predictive of ultimate clinical outcome. This information should be discussed with parents of children with Aicardi syndrome.