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Infantile Spasms - Clinical Manifestations, Causes, and Treatment

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Infantile spasms are rare but a severe type of epilepsy. It is characterized by a specific wave pattern of the brain.

Medically reviewed by

Dr. Abhishek Juneja

Published At October 24, 2023
Reviewed AtOctober 24, 2023

What Are Infantile Spasms?

Every moment with the tiny babies is an exciting and joyful experience one wants to cherish for a lifetime, but any abnormal behavior or changes concern things. The unique, abnormal pattern of the brain leads to delayed milestones such as delay in sitting, blabbing, and crawling. This condition is seen in children below two years of age. But most commonly seen in infants in the age group of five to seven months of age. This condition may be severe and cause problems in young children and their developing brains. The infants will have mild to moderate spasms that they are sometimes unable to control. A few children complain of these episodes of spasm in their later stages of life. These infantile spasms are mild seizures where the child shows jerky and tense movements, which may be a matter of concern in later stages of life. West syndrome is used to describe when the baby has infantile spasms.

What Are the Signs of Infantile Spasms?

The infantile spasms last a few minutes, but the gap between the episodes is significantly less. The child may have continuous series of attacks. After that, there will be a cluster of single spasms. The child may have a five to ten seconds gap between the gap of episodes. All the symptoms start below the age of 12. Studies proved that 90 percentage of spasm attacks are in infants below 12 months of age occurring the spasms. The sudden stiffness in the body can be noticed, the back may arch, and the hands, legs, and back may bend forward. In some children, the eyes may roll up, and a little tummy crunch is also seen. All these are mostly seen soon after the baby wakes up from sleep. When the baby is having an episode of infantile spasms, the following signs are noticed such as:

  • A sudden loss in developmental milestones which were already developed, for example, the baby who was able to roll over, sit and crawl will suddenly stop performing all these activities.

  • Sudden loss of social interaction and smiles very rarely.

  • The baby may be cranky most of the time and silent.

  • Stops playing, loss of eye contacting, and responding to parents also becomes less.

  • Belly tensing is observed.

  • Chin movements.

  • Head nodding.

What Are the Causes of Infantile Spasms?

The exact cause of infantile spasms is not known. However, it is believed that infantile spasms are caused by the way the baby's brain grows in the mother's womb, infections causing brain damage or any atypical abnormalities of blood vessels in the brain, and all of these generate unique wavy patterns in the brain, resulting in infantile spasms. In a few children, infantile spasms are caused by metabolic and genetic mutations. In some children, the infantile spasms are caused by a vitamin B6 deficiency. Possible causes of Infantile spasms are:

  • Brain Injuries or Infections: Any damage to the brain increases the risk of infantile spasms. The most common cause is hypoxic-ischemic encephalopathy, where the brain does not get the required amount of oxygen for a short time, meningitis, and perinatal stroke (the stroke that happens at any time of pregnancy in the first trimester of life).

  • Abnormal Brain Development: Various malformations may occur in the central nervous system development when the baby is growing in the womb. These malformations in the developing brain may cause infantile spasms. The malformations include focal cortical dysplasia, lissencephaly, holoprosencephaly, and aicardi syndrome. In addition, abnormal development of the blood vessels that supply the brain can also cause infantile spasms.

  • Genetic Changes: Scientists are linking genetic mutations and infantile spasms. For example, some genetic mutations that cause infantile spasms are trisomy 21(Down syndrome) and tuberous sclerosis.

  • Metabolic Changes: The metabolic changes, such as inborn errors of metabolism, can cause infantile spasms. The genetic modifications block the metabolic process involved in the breakdown of nutrients, which helps generate energy. It is believed that in rare cases, the infantile spasms are caused by vitamin B6 deficiency.

How to Diagnose Infantile Spasms?

The pediatrician will first do the complete medical examination and ask for the medical history, the episodes' duration, and how long the seizure lasts. Then, the healthcare provider will ask about the baby's sudden behavioral and developmental changes. Finally, he may suggest taking the child to a neurologist or pediatric epileptologist, blood tests, and urine tests (to look for infections or illnesses).

  • Routine blood and urine tests are done.

  • EEG (electric encephalogram) is done to know the brain waves and electrical activity in the brain. A unique pattern called hypsarrhythmia generally confirms the diagnosis of infantile spasms in children.

  • CT (computed tomography) and MRI (magnetic resonance imaging) scan to examine the changes or abnormalities in the brain.

How to Treat Infantile Spasms?

The main goals of treatment for infantile spasms are to cease or regulate the spasms and, if feasible, to treat the etiology.

The following are the primary therapy for stopping and/or managing spasms:

  • Adrenocorticotropic Hormone (ACTH): ACTH is a hormone produced by the pituitary gland that influences how the body reacts to stress. The production of ACTH stimulates the adrenal glands to create cortisol, also known as the "stress hormone." ACTH is a synthetic (man-made) variant of the hormone that is given as a shot (injection) to alleviate spasms. The first doses will be given to the kid in the hospital so that their healthcare professional can closely monitor them for any negative effects. Because the child will require ACTH shots for the next six weeks, their healthcare professional will advise parents on how to administer the injections at home.

  • Prednisolone (Oral): This drug is a man-made version of a corticosteroid hormone produced by the adrenal gland. It is effective for treating infantile spasms and can be administered when ACTH is unavailable.

  • Vigabatrin: This drug is used to treat seizures. It is taken orally as a tablet or drink.

If your child does not respond to hormone therapies or Vigabatrin, other possibilities for treatment include:

  • The ketogenic diet is a low-carbohydrate diet.

  • Another seizure medication.

  • When there is a focalized lesion causing the infantile spasms, epilepsy surgery is performed.

Conclusion:

Infantile spasms are thought to be caused by how the baby's brain formed in the womb. Brain damage is caused by infections. The treatment seeks to minimize the severity or frequency of attacks while also treating the underlying cause of the problem if possible. It is best to seek medical attention if any of the symptoms are observed.

Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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