Infantile Epileptic Spasms Syndrome (IESS)

What Causes Infantile Spasms or IESS?

Several different conditions can cause infantile spasms, including structural brain abnormalities, metabolic disorders and genetic conditions. These conditions may be present at birth (congenital), develop after birth (acquired) or be the result of a gene change (mutation). When there’s no identifiable cause, the seizures are called cryptogenic spasms.

Some of the more common causes of IESS include:

Brain Injuries, Infections or Abnormalities

These brain conditions increase the risk of IESS:

• Brain abnormalities, such as focal cortical dysplasia, lissencephaly and polymicrogyria 
• Lack of oxygen to the brain due to hypoxic-ischemic encephalopathy (HIE) or traumatic brain injury (TBI) 
• Meningitis
• Perinatal stroke 
• Arteriovenous malformation (AVM)

Genetic Disorders

These genetic disorders may cause IESS:

• Aicardi syndrome
• CDKL5 deficiency disorder (CDD)
• Duplication 15q syndrome (Dup15q)
• Miller-Dieker syndrome
• Trisomy 21 (Down syndrome)
• Tuberous sclerosis complex (TSC)

 Metabolic Disorders

• Menkes disease
• Mitochondrial disorders such as Leigh’s syndrome
• Nonketotic hyperglycinemia (NKH)
• Phenylketonuria (PKU)
• Pyridoxine-dependent epilepsy (PDE)

What Are the Signs and Symptoms of Infantile Spasms? 

Infantile spasms commonly appear when a child is between 3–8 months old and tend to resolve around 2–4 years old. However, babies with infantile spasms are at high risk of developing other types of seizures when they grow older.

Infantile spasms don’t look like typical seizures. People can mistake the seizures for colic, startle reflex or gastroesophageal reflux disease (GERD). Although the spasms aren’t painful, they can be uncomfortable. Your baby may cry or grimace while having infantile spasms.

While each spasm may only last a few seconds, they tend to occur in clusters that can last several minutes. You may notice the spasms when your baby wakes from nighttime sleep or naps. Taking videos of your baby when you see unusual behaviors or actions can aid your doctor in diagnosis.

A baby having infantile spasms may:

• Appear stiff or rigid
• Arch their back
• Bend their head, arms or legs forward
• Cry or grimace
• Have a slight head nod
• Look startled, have a wide-eyed stare or roll their eyes back in their head
• Raise their neck and shoulders

Other Signs of Infantile Spasms

Associated symptoms of IESS often occur soon after a baby starts having seizures. These symptoms include:

• Loss of certain learned skills, such as babbling or rolling over
• Development that stops progressing or regresses 
• Developmental delays
• Decreased social interactions and signs of autism spectrum disorder (ASD)
• Changes in tone and visual tracking
• Development of other types of seizures

How Is IESS Diagnosed?

Fast diagnosis and treatment of IESS are critical to a child’s overall health and development. Pediatric neurologists and pediatric epilepsy specialists diagnose and treat IESS. This type of epilepsy can be challenging to diagnose, which is why it’s important to see experts familiar with infantile spasms. At Lurie Children’s, we have an experienced team of doctors, nurses and advanced practice providers (APPs) who specialize in the diagnosis and management of IESS. 

An electroencephalogram (EEG) is the main test for IESS. This test monitors a child’s brain activity and detects chaotic background patterns (hypsarrhythmia) associated with IESS. We use video EEG to monitor brain activity and capture spasms. 

To make a diagnosis, we’ll admit your child into the hospital and perform EEGs and other tests, such as:

• Blood tests, including epilepsy genetics testing, to look for conditions that cause infantile spasms
• Neuroimaging tests, such as brain MRIs, to look for signs of stroke, brain malformations or other conditions that cause seizures

How Is Infantile Spasms Treated?

Lurie Children’s team follows treatment protocols established by the International Collaborative of Infantile Spasms Study (ICISS), ensuring your baby receives the latest, evidence-based care. Even though this condition isn’t common, we treat a high volume of patients with IESS.

There are two first-line treatments for IESS:

• Hormonal treatment: This treatment includes high-dose steroids given by mouth (prednisolone suspension) or injection (adrenocorticotropic hormone or ACTH). Your child receives this treatment for about one month.
   
• Antiseizure medication: Children who meet certain criteria may take vigabatrin, an oral antiseizure medication. Your child’s treatment may last from six months to two years. Because this medication carries a small risk of peripheral vision loss, your child gets vision screenings with one of our pediatric ophthalmologists or an eye specialist of your choosing. 

What Is Lurie Children’s Approach to Caring for Children With IESS?

IESS affects every child differently. But each child needs a fast, accurate diagnosis and treatment. At Lurie Children’s, our team of experts uses a two-prong approach to help your child have the best possible outcome. We start diagnostic tests and standardized treatments as soon as possible. Because treatments for IESS take place over a long time and require close monitoring, our team works closely with your child’s pediatrician and follows established protocols to protect your child’s health. 

Our specialized services include:

• Dedicated focus on infantile spasms: At our Infantile Spasms Clinic, your child sees experts with deep experience treating this complex form of epilepsy. Our team consists of epilepsy experts, advanced practice providers, dedicated infantile spasms nurses and social workers. This team is here for your family, from diagnosis to management, ensuring tests and therapies happen in a timely manner. We closely monitor your child’s blood pressure, vision and overall health throughout treatment.
• Advanced seizure care: Our nationally recognized Pediatric Epilepsy Center provides high-level care for children with epilepsy. We’re home to one of the nation’s largest and most comprehensive pediatric Ketogenic Diet Therapy Programs used to treat epilepsy. Your child continues to get video EEGs to monitor for seizures at our dedicated Epilepsy Monitoring Unit.
• Tuberous sclerosis complex (TSC) clinic: TSC is one of the most common genetic causes of infantile spasms. Our Multidisciplinary Tuberous Sclerosis Complex (TSC) Clinic is a national leader in comprehensive TSC care. Your child sees doctors with advanced expertise in TSC and IS.
• Comprehensive rehabilitative services: Depending on your child’s needs, they may benefit from rehabilitative services, such as physical therapy, occupational therapy and speech therapy. Lurie Children’s specialists also provide inpatient rehabilitation care at the Shirley Ryan AbilityLab.
• Help for developmental delays: Specialists in our Division of Developmental and Behavioral Pediatrics help children who have autism, developmental delays, learning disabilities and other challenges. As your child grows older, they may benefit from neuropsychological testing and other support.
• Complex brain surgeries: Our nationally ranked neurosurgeons perform complex procedures to treat brain bleeds from strokes or brain injuries that cause IESS. Some children may eventually need epilepsy surgery to treat seizures that don’t respond to other therapies. 
• Ongoing support: Our psychologists, social workers and Child Life Specialists support your family throughout your child’s care journey. 
• Research and clinical trials: Our team is active in pediatric epilepsy research and clinical trials to improve diagnoses and treatments. Your child may benefit from promising new therapies available at a select few centers nationwide.

Lurie Children’s Infantile Spasms Program

The Lurie Children’s Infantile Spasms Program provides specialty care for children needing urgent diagnosis and treatment. A team of IESS experts offers the latest treatments, EEG monitoring and follow-up care at our dedicated Infantile Spasms Clinic. Your child benefits from a customized treatment plan developed with their unique diagnosis and needs in mind.

Learn more about our Infantile Spasms Program.