West’s Syndrome May Be Preventable.
West’s syndrome is a childhood epileptic syndrome. It leads to uncontrolled seizures (known as ‘infantile spasms’), abnormal brain wave activity between seizures (referred to as ‘hypsarrhythmia’) as measured by EEG recordings and intellectual disability in four out of five children. It usually has its onset in the first year of life, and often occurs when there are abnormalities in brain development.
 
An important paper was published in the European Journal of Paediatric Neurology in 2011 that needs to be more widely known. Jozwiak and colleagues examined infants with tuberous sclerosis, a genetic disorder that often leads to West’s syndrome. Since they knew the infants were at risk for West’s syndrome, the Polish group monitored their brain activity by EEG recordings and treated the babies with vigabatrin (an anti-seizure medication) as soon as West’s-like brain wave abnormalities appeared – but before there had been any clinical appearance of spasms.
 
In the majority of infants treated before the spasms started, West’s syndrome never developed, and the children avoided both epilepsy and intellectual disability. In a parallel group of untreated children, the majority of children developed West’s syndrome and suffered from both epilepsy and intellectual disability.
 
EpLink – the Epilepsy Research Program of the Ontario Brain Institute – will be following up this line of research at the Hospital for Sick Children in Toronto. Dr. Miguel Cortez will be performing regular EEGs in infants at risk for West’s syndrome and the hospital staff will treat them before the spasms develop. The study will treat not only infants with tuberous sclerosis, but also infants with other conditions that put them at risk for West’s syndrome.