What are INFANTILE SPASMS?
West Syndrome, commonly referred to as Infantile Spasms ("IS"), is a unique, and frequently malignant, epileptic syndrome confined to infants. West Syndrome / Infantile Spasms is one of the most devastating forms of childhood epilepsy. Over three-quarters of patients remain mentally retarded and / or with intractable epilepsy (Hurst et al. 1994; Riikonen, 1996). A wide variety of causes may be involved, particularly lesions affecting various parts of the brain. In up to one-fourth of the cases, no cause can be identified. Infantile spasms usually stop by age 5, but are often replaced by other seizure types. West Syndrome is characterized by infantile spasms, hypsarrhythmia (abnormal, chaotic brain wave patterns), and mental retardation. Other neurological disorders, such as cerebral palsy, may be seen in 30-50% of those with IS. Cognitive disorders often persist, even in patients who are rendered seizure free by treatment and whose EEG becomes normal, and a number of patients remain with Autistic features. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epileptic disorder of later childhood.
The prognosis for children with Infantile Spasms ("IS") is dependent on the underlying causes of the seizures. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. One study (Trevathan et al.) found that 83% of children with a history of Infantile Spasms had mental retardation at 10 years of age. Profound mental retardation (intelligent quotient <20) was present in 56%. The poor prognosis may also may be a result of the effects of the chaotic electrical activity in the brain. Unless this process can be reversed quickly, permanent impairment of the child is highly likely. Because early cessation of spasms is of prognostic significance, early diagnosis and treatment are essential. Spasms usually resolve mid-childhood, but more than half of the children with IS will develop other types of seizures.
The usual characteristic features of this syndrome are brief tonic seizures, hypsarrythmic electroencephalograms (EEGs), and mental retardation. Hypsarrythmia is a severely abnormal pattern, and this dysfunctional state probably prevents normal development. Infantile Spasms frequently occur in clusters and the intensity and frequency of the spasms in a cluster may increase to a peak before progressively declining. The seizures are very brief, and single seizures may be missed by the casual observer. The number of seizures per cluster varies considerably, with some clusters consisting of as many as 150 seizures. The number of clusters per day also varies, with some patients having as many as 60 clusters per day.
The goals of treatment for infants with West syndrome include ensuring the highest quality of life with no seizures, minimizing adverse effects from treatment, and subjecting the patient to as few medications as possible. Antiepileptic medications (AEDs) are the mainstay of therapy for infants with West syndrome. Unfortunately, no one medical treatment gives satisfactory relief for all infants with West syndrome. The various medical treatment options for infants with West syndrome can be divided into 2 major groups: (a) First-line treatments (ie, ACTH, prednisone, vigabatrin, pyridoxine) and (b) Second-line treatments (ie, benzodiazepines, valproic acid, lamotrigine, topiramate, zonisamide). The relative effectiveness of these various medications has not been tested, nor has the duration of treatment been established. Further research is needed.
In some patients, brain surgery involving removal (resection) of a localized region can lead to freedom from seizures. The ketogenic diet has been employed successfully to treat a variety of seizure types. However, the role of the ketogenic diet in the treatment of infants with West syndrome is not defined. Alternative and complementary forms of treatment some parents pursue include acupuncture, cranialsacral massage therapy, osteopathy, hyperbaric oxygen and biofeedback. On the horizon, are potential cures from stem cell transplants.
Dr. Donal Shields believes that early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families. If you would like to read more of his article, please click here.
Infantile Spasms – Diagnosis, Management and Prognosis, James D. Frost, Jr and Richard A. Hrachovy
Childhood-Specific Epilepsies Accompanied by Developmental Disabilities: Causes and Effects, Gregory L. Holmes
Seizures and Epilepsy in Childhood, A Guide, John M. Freeman et al.