Infantile spasms (IS) is one of the most devastating and treatment-resistant epileptic syndromes in infancy. It affects one in every 2,000 babies. IS is characterized by three main symptoms: halt or decline in psychomotor development (crawling, walking, talking, social interaction, etc.), epileptic spasms, and abnormal electrical brain activity seen in the electroencephalogram (EEG).
The first spasms usually appear between age 3 and 7 months. Most cases are treated successfully with hormones or anticonvulsive drugs. However, the developmental outcome remains poor in most of these infants. Mental retardation is a serious consequence of IS, and has been reported in 71% to 88% of patients. Of the children who have normal overall intelligence and are able to attend regular school, most have specific deficits such as motor, attention, or language problems, as well as learning difficulties. Previous studies have shown that early diagnosis and treatment of IS may improve the developmental outcome.
The main aim of this research program is to prevent and minimize developmental and psychomotor deficits in infants with IS by conducting three sets of studies: 1) identification of predictive markers for IS to allow for earlier diagnosis, 2) development of a new, safe technique for IS treatment monitoring to better understand the effects of anticonvulsive drugs on the developing brain, and ultimately, to enable earlier adjustments in treatment, and 3) investigation of specific developmental profiles and psychomotor outcomes in children with IS in relation to age at onset, causes of IS, and IS treatment.
Early detection and treatment of IS should help prevent cognitive and developmental deficits, thus improving the quality of life of these patients and their families.