Abstracts

Rationale: Aicardi syndrome (AIC) is a rare neurological disorder defined by agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms. Other features include brain, eye and skeletal abnormalities and global developmental disabilities. Few reports identify children who have unassisted ambulation, speech and self-help skills. We sought to describe the full spectrum of developmental in AIC and to identify early predictors of high functioning cases. Methods: 95 cases of AIC, at least 2 years of age, were identified and physician confirmed from a detailed parent survey which included questions on signs and symptoms related to the diagnosis of AIC, seizure history and treatment, developmental progress (fine and gross motor, cognition, speech and self-help), and autistic-related behaviors. Results: Median age of child at the time of survey completion was 10 years (range 2-30 yrs). Daily seizures occurred in 53 (58%) and 3 were currently seizure-free. 46 (48%) reported at least one autistic-related behavior, most notably stimming in 41 (89%) and self-injury in 23 (50%). 57% reported developmental regression, one third of which was considered a chronic or permanent loss of skills (47% communication, 42% motor, 26% feeding, 16% other). Reported causes of regressions were seizures (61%), medications (35%), surgery or illness (25%), and other (13%). 7 cases underwent brain surgery (2 corpus callosotomy, 2 resection, 3 hemispherectomy) however intractable epilepsy continued in all 7, and daily seizures in 6. 51 cases (59%) had a reported developmental age <12 months. Of these 51, mean age at seizure onset was 2 months, 58% were developing normally prior to seizure onset, 28% have partial ACC, 63% have vertebral anomolies, 27% have microphthalmia, 61% eats by mouth, and 10% recognize a familiar adult. 30 cases (34%) had a reported developmental age >24 months. Of these 30, mean age at seizure onset was 3.2 months, 90% were developing normally prior to seizure onset, 41% have partial ACC, 23% have vertebral anomolies, 7% have microphthalmia, 100% eats by mouth, and 93% recognize a familiar adult. Skills accomplished in the 30 with developmental age >24 months include: walk unassisted (83%), run (57%), catch a ball (53%), toilet trained (57%), dresses self (27%), use utensil to eat (88%), play computer or board games (43%), count 5 objects (50%), identify all letters (37%), read words (23%), answer Yes/No questions (63%), understand conversation (77%) and speak >20 words (67%). Echolalia was reported in 50%. Conclusions: Global developmental disabilities are common in AIC but a higher proportion than originally reported have unassisted ambulation, independent life skills, verbal communication and demonstrated academic learning. Despite these higher skill levels, dressing, pretend play, reading, and complex conversation are exceptional in AIC. Possible early predictors of higher functioning status include age at seizure onset >3 months; normal development prior to seizure onset; partial ACC; absence of secondary AIC features, and early cognitive awareness. (Source of funding was RTI International).