Infantile spasms, also known as West syndrome, are a rare type of seizure disorder that occurs in infants, typically between the ages of 3 to 12 months. These spasms often manifest as sudden, jerking movements of the arms, legs, or trunk, resembling a startle reflex.
Infantile spasms are characterized by subtle infant seizures, which can have significant neurological effects and an atypical EEG pattern; these symptoms can lead to considerable developmental delays and cognitive and physical deterioration. Because these spasms do not look like traditional seizures, primary care physicians and pediatricians can find it challenging to diagnose Infantile spasms.
This often means that effective treatment for affected children is delayed, which can have dire consequences. And for those that are diagnosed accurately, many do not respond to treatment or have adverse side effects.
The symptoms of infantile spasms may include:
Perhaps the most important way to improve infantile spasms outcomes is to recognize the signs and symptoms and get children suspected of having infantile spasms evaluated by a trained medical provider. Consider using the STOP Infantile Spasms mnemonic developed by ISAN as an important starting point:
It is estimated that 2 out of 3 infants with Infantile Spasms have a known cause for their seizures. However, the exact cause of infantile spasms is not always clear. Some causes might include:
Infantile spasms primarily affect infants, typically between the ages of 3 to 12 months. However, it’s important to note that while they are most common in infants, older children and even adults can also experience spasms in rare cases. Nonetheless, the term “infantile spasms” specifically refers to the occurrence of these seizures in infants.
Diagnosing infantile spasms often involves a comprehensive medical evaluation, including a review of the infant’s medical history, a physical examination, and neurological tests. Healthcare providers may also use imaging studies, such as MRI or CT scans, to assess for any underlying brain abnormalities.
Electroencephalography (EEG) is a key tool in diagnosing infantile spasms. This test measures the electrical activity in the brain and can help identify abnormal patterns associated with seizures. Video EEG monitoring may also be used to capture and analyze the infant’s behavior during a seizure.
Children affected by infantile spasms face the potential of developing additional seizure types as they grow older. They may also be susceptible to conditions like autism and cognitive delays. However, early detection and treatment can aid in mitigating these risks.
The primary goal of treatment for infantile spasms is to control seizures and minimize their impact on the infant’s development. Antiepileptic medications, such as adrenocorticotropic hormone (ACTH) or oral steroids, are commonly used to suppress seizure activity and improve outcomes.
In addition to medication, infants with spasms may benefit from early intervention services, such as physical therapy, occupational therapy, and speech therapy. These therapies can help address developmental delays and support the infant’s overall growth and development.
In some cases, surgery may be considered as a treatment option for infantile spasms, particularly if there is an underlying structural abnormality in the brain that can be corrected. Surgical procedures may involve removing or resecting the affected area of the brain to reduce seizure activity.
Infantile spasms can be subtle or obvious. In the subtlest cases, these seizures may take the form of a slight drop of the head or other type of involuntary movement. They might also look like the classic Moro reflex, in which an infant reaches both arms out at the same time. Other infantile spasms may involve the infant extending or jerking its arms, legs, and neck at the same time. These spasms can occur as a single event, or may occur in clusters of several spasms. They often occur in the morning or after the child wakes from a nap.
To view videos of children with infantile spasms, please visit the Infantile Spasms Action Network.
There are some genetic links to infantile spasms. Mutations, deletions, or abnormalities in certain genes have been associated with infantile spasms. These gene abnormalities associated with the presentation of infantile spasms can lead to many different possible changes in the brain depending upon the gene involved – changes such as brain malformations, errors in metabolism, changes in brain excitability, or other genetic disorders (such as tuberous sclerosis). (Paciorkowski et al., 2011)
Importantly, there is a lot left to learn about the underlying mechanisms of infantile spasms. Therefore, continued research into the underlying causes of infantile spasms is essential.
Child Neurology Foundation: An organization that provides support and education for caregivers and children with neurologic conditions, including the promotion of infantile spasms awareness and providing information on the Infantile Spasms Action Network.
Tuberous Sclerosis Alliance: An organization committed to supporting tuberous sclerosis research and providing education and support for individuals and families affected by the disorder.