In infantile spasms, children suddenly raise and bend their arms, bend their neck and upper body forward, and straighten their legs.
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The spasms are usually caused by serious brain disorders.
Many children who have infantile spasms also develop abnormally or have intellectual disability.
Electroencephalography is done to diagnose the disorder, and analysis of samples of blood, urine, and the fluid around the spinal cord as well as brain imaging help doctors identify the cause.
Adrenocorticotropic hormone, a corticosteroid, and vigabatrin are medications that help control the spasms.
Infantile spasms are a rare type of seizure. A seizure is an abnormal, unregulated electrical discharge that occurs within the brain and temporarily interrupts normal brain function.
Infantile spasms last for only a few seconds but typically occur close together in a series that lasts several minutes. Children may have many series of spasms a day. Spasms usually start when children are younger than 1 year of age. They may stop by 5 years of age, but often another type of seizure then develops.
Causes of Infantile Spasms
Usually, infantile spasms occur in children who have a serious brain disorder or developmental problem, which may have already been diagnosed. These types of disorders may include
Metabolic disorders (problems that affect body chemistry) or genetic disorders
Lack of oxygen in newborns, as may occur during labor or delivery
Sometimes a serious head injury in infants (around the time of birth)
Tuberous sclerosis complex, a rare hereditary disorder, commonly causes infantile spasms. This disorder is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous). Sturge-Weber syndrome and neurofibromatosis are other neurocutaneous syndromes that cause infantile spasms.
Chromosome abnormalities (for example, Down syndrome), structural malformations of the brain or spinal cord, and infections an infant acquires before birth (for example, syphilis, Zika virus infection, and cytomegalovirus infection) are rare causes of infantile spasms.
Sometimes no cause can be identified.
Symptoms of Infantile Spasms
Spasms usually consist of a sudden jerk (spasm) of the trunk and limbs that can look very much like the infant has startled. Sometimes the spasms may involve only slight nodding of the head.
Spasms may last several seconds, and children usually have many spasms in clusters, one right after the other.
Spasms typically occur soon after children wake up and occasionally occur when they are falling asleep.
In most affected children, intellectual development, including development of language skills, is slow, and parents may notice developmental delays before the first infantile spasms occur. Many children can have intellectual disability.
When infantile spasms start, children who are developing normally may temporarily stop smiling or lose developmental skills that they have learned, such as being able to sit up or roll over.
Diagnosis of Infantile Spasms
Electroencephalography
Magnetic resonance imaging
Sometimes blood and urine tests and a spinal tap
Doctors diagnose infantile spasms based on symptoms and results of electroencephalography (EEG), which is done to check for specific patterns of abnormal electrical activity in the brain. EEG is done while children are sleeping and while they are awake.
Magnetic resonance imaging (MRI) of the brain is done to look for signs of brain damage or malformations.
Samples of blood, urine, and the fluid around the spinal cord (cerebrospinal fluid) may be analyzed to check for disorders that may be causing the spasms, such as metabolic disorders. Cerebrospinal fluid is obtained by doing a spinal tap (lumbar puncture).
Other tests are done to look for the cause:
Samples of blood, urine, and the fluid around the spinal cord (cerebrospinal fluid) may be analyzed to check for disorders that may be causing the spasms, such as metabolic disorders. Cerebrospinal fluid is obtained by doing a spinal tap (lumbar puncture).
If the cause of infantile spasms is still unclear, genetic tests may be done.
Treatment of Infantile Spasms
Adrenocorticotropic hormone
A corticosteroid
Vigabatrin
Because early control of infantile spasms is associated with a better developmental outcome, early identification and treatment of spasms are essential.
Children are prescribed one of the following 3 medications.
Adrenocorticotropic hormone (ACTH) can be injected into a muscle once a day. ACTH therapy is typically continued for 2 weeks and then tapered off over several weeks.
A corticosteroid (such as prednisone) is given by mouth.(such as prednisone) is given by mouth.
VigabatrinVigabatrin is an antiseizure medication given by mouth. It is the medication of choice when tuberous sclerosis complex is the cause of the spasms. There is not enough evidence to support that any other antiseizure medication or a ketogenic diet is effective.
Sometimes epilepsy surgery is done to eliminate the cause of the spasms. An area of the brain may be surgically removed if seizures are caused by only that one area and that area can be removed without significantly affecting the child's ability to function.
