Infantile Spasms – Jackknife Convulsion
Watching your baby’s every movement typically brings parents so much joy. But when a baby shows signs and symptoms of a serious neurological condition such as infantile spasms (IS), that joy can quickly turn into concern. Infantile spasms are little seizures with big consequences. Early recognition leads to better outcomes; waiting to seek treatment can increase your baby’s risk of permanent brain injury.
What are infantile spasms?
Infantile spasms, sometimes called West syndrome, are a type of seizure that occurs in babies. The spasms look like a sudden stiffening of muscles, and the baby’s arms, legs, or head may bend forward. The seizures occur in a series of short spasms, about one to two seconds in length. Babies may have as many as 100 spasms a day. The seizures may be more likely to happen just as the baby is waking up.
Infantile spasms, first described with a group of symptoms known as West syndrome, is a form of epilepsy that occurs in 1 in 2,000 children. It typically begins between 2-12 months of age and peaks between 4-8 months of age.
Infantile spasms most often begin between 4 and 7 months, but can start any time in the first few years of life. Later onset spasms may also occur but are rare. Infantile spasms require specific medication to stop the spasms. Children with Infantile spasms are at risk for development of difficult-to-control epilepsy, intellectual disability, and autism. Early and effective treatment is important in improving the prognosis for these infants, as early responders have better long-term epilepsy and developmental outcomes.
Infantile spasms (IS) is a seizure disorder in babies. The seizures (or spasms) make muscles in the arms and legs stiff and bend the baby’s head forward. They look very much like a startle.
Babies also might have slowed development or loss of skills (like babbling, sitting, or crawling). Although the spasms usually go away by the time a child is 4 years old, many babies with IS will have other kinds of epilepsy later in life.
Parents and childcare providers, or anyone wanting to educate a friend or relative about infantile spasms. We see a baby experiencing a cluster of individual spasms. Each spasm is less than 1 second; the child exhibits a look of surprise, a brief stare, and elevation/extension of both arms. In between each spasm, the baby appears to be fine very typical of infantile spasms.
How we care for infantile spasms?
The Infantile Spasms Program is dedicated to providing timely evaluation, testing, treatment, and follow-up for infants with new onset infantile spasms, refractory infantile spasms, and later-onset epileptic spasms. We offer a full range of epilepsy care, including medication-based and dietary treatment for spasms, as well as timely evaluation for epilepsy surgery in infants who have difficult-to-control spasms.
We are a Level 4 Epilepsy Center, recognized by the National Association of Epilepsy Centers, and one of the few Level 4 Epilepsy Centers in the country dedicated to caring for children. Our center performs epilepsy surgery in eligible children, including infants.
What Do Infantile Spasms Look Like?
Spasms start suddenly and last a second or two. They often come one after another in a cluster that lasts several minutes. They happen most often just after waking. They’re often mistaken for colic, reflux, or hiccupping.
While these seizures may last only a second or two, they often happen close together with each spasm occurring every 5-10 seconds in a series. During a spasm, the body stiffens suddenly, the back may arch, and the arms, legs, and head may bend forward. However, infantile spasms can sometimes be hard to notice perhaps only the eyes roll up or there is a small tummy crunch. They are most common just after a baby wakes up and rarely occur during sleep.
A baby having a spasm might have:
- the head bent forward with arms flung out and the knees pulled into the body (described as “jackknife”)
- the head bent back with the arms and legs straightened
- small movements in the neck or other parts of the body
Infantile spasms is one of the “catastrophic childhood epilepsies” because of the difficulty in controlling seizures and the association with mental retardation. However, 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.
Infantile spasms is arguably the most interesting, but also the most enigmatic, of all the epilepsy syndromes. Infantile spasms was one of the first epilepsy syndromes described. In a letter to the editor of The Lancet in 1841, Dr. WJ West’s description is as clear as any modern portrayal. He recounted that the patient had “bobbing” that “cause a complete heaving of the head forward towards his knees, and then immediately relaxing into the upright position.
These bowings and relaxing would be repeated alternately at intervals of a few seconds, and repeated from 10 to 20 or more times at each attack, which attack would not continue more than 2 or 3 minutes; he sometimes has 2, 3 or more attacks in the day.” West also reported on the consequences of infantile spasms: marked developmental delay and mental retardation. Sadly, the patient who West was describing was his own son, and the letter was a request for help in treatment. The letter was written more than a century before adrenocorticotropic hormone (ACTH) was identified as the first effective therapy.
Infantile spasms has been known by many names over the years, including salaam attacks, salaam convulsions, generalized flexion epilepsy syndrome, Blitz-Nick-Salaam-Kramer, eclampsia nutans, flexion spasm, infantile spastic epilepsy, jackknife convulsion syndrome, jackknife spasm, massive myoclonia syndrome, and nodding spasms. Infantile spasms is now the preferred term, but West syndrome is often used synonymously.
A more general term, “epileptic spasms,” includes infantile spasms as well as clinically similar seizures that occur in older patients.
In the 165 years since the initial description of infantile spasms, clinicians have made remarkable progress in recognizing infantile spasms and evaluating patients for underlying causes. However, more remarkable is how little is really known about the neuroanatomic and electrophysiologic mechanisms that trigger infantile spasms.
This lack of understanding may well result from the fact that no animal model has been created that is similar to the human disorder. It is possible that the underlying mechanisms of infantile spasms exist only in the context of the complexities of the developing human nervous system.
What Causes Infantile Spasms?
Infantile spasms can be caused by brain malformations, infections, brain injury, or abnormal blood vessels in the brain(also called West syndrome). IS also can happen in babies with certain metabolic and genetic disorders. In rare cases, a baby’s infantile spasms are caused by vitamin B6 deficiency.
There are many causes of infantile spasms; almost any brain abnormality or brain injury can cause them. More than 50 genetic/metabolic diseases are associated with infantile spasms, and many patients have other disorders that cause developmental delays (e.g., cerebral palsy, Down syndrome, tuberous sclerosis, etc.) prior to the onset of the spasms.
Sometimes, the cause isn’t known. However, more and more gene mutations are being linked to infantile spasms.
Determining the cause of infantile spasms is very important, because it affects treatment and prognosis.
Know the signs to ‘STOP’ Infantile Spasms.
Keep this easily remembered acronym in mind: ‘STOP’ Infantile Spasms.
- See the signs: Clusters of sudden, repeated, uncontrolled movements like head bobs or body crunching.
- Take a video: Record the symptoms and talk to your doctor immediately.
- Obtain diagnosis: Confirm an irregular brain wave pattern with an EEG test.
- Prioritize treatment: End spasms to minimize developmental delays
Two out of 3 babies with IS have some known cause for the seizures, however the range of causes is broad.
- The most common cause is a structural change in the brain. This may be due to a prior injury (such as brain infection or lack of oxygen to the brain). It can also be due to a change in the way the brain has developed (cortical malformation or dysplasia).
- Genetic causes are also possible. There are a number of genes associated with spasms.
- Metabolic causes can also lead to changes in brain function and can cause spasms.
- Other babies have had no apparent injury and have been developing normally.
- There is no evidence that family history, the baby’s sex, or factors such as immunizations are related to infantile spasms.
How Are Infantile Spasms Diagnosed?
To diagnose infantile spasms, your child’s doctor will complete a physical and neurologic exam. Your baby will also need a test called an electroencephalogram (EEG), which looks at electrical activity in the brain.
Babies who have infantile spasms often have a unique EEG pattern called hypsarrhythmia. This is a pattern of disorganized background activity and high-voltage spikes and slow waves. Other EEG patterns are also associated with infantile spasms. Your baby’s doctor may want to look at EEG patterns when your child is awake, asleep, as well as capturing spams.
It is very important that infantile spasms are diagnosed early. If you suspect your baby may be having infantile spasms, talk to your pediatrician right away. Your child may need to be seen by a pediatric neurologist. If you can, try to video any episodes of your baby having a spasm and show this to your child’s doctors.
You may be told to go to the emergency room so a pediatric neurologist can examine your child. Your child may have to be admitted to the hospital to have a test called video-electroencephalogram (EEG) monitoring. Video-EEG is needed to verify specific brain-wave patterns during the spasms and to document specific patterns in between the spasms. Pediatric neurologists look for a distinct EEG pattern called hypsarrhythmia.
The seizures’ appearance and EEG are so distinct that the diagnosis of infantile spasms can be made with certainty in most cases. Determining the cause of the spasms may be more difficult.
- A careful history of spells, including what they look like and how often they occur.
- Make a video of the events and show them to your doctor if you are concerned your child may be having spasms.
- Find worksheets and forms to help you describe events in our Toolbox.
- A history of the child’s development and any prior brain injury.
- A physical and neurological exam.
- An EEG (electroencephalogram) looks at the electrical activity of the brain.
- An EEG in a baby with infantile spasms usually shows a pattern called hypsarrhythmia (HIP-sa-RITH-me-ah) when the seizures are not occurring. This high-voltage spike and wave pattern is often helpful in confirming the diagnosis.
- Most infants diagnosed with infantile spasms will need other tests like an MRI (magnetic resonance imaging) scan of the brain, blood and urine tests.
Infantile spasms are diagnosed by a pediatric neurologist (a doctor who specializes in brain, spine and nervous system problems). Testing may include:
- blood tests and urine tests (to look for infections or illnesses)
- EEG, or electroencephalography (to see brain waves/electrical activity in the brain). A particular EEG finding called “hypsarrhythmia” often confirms the diagnosis, but not every child with infantile spasms will have this.
- VEEG, or video electroencephalography (EEG with video recording)
- CAT scan, MRI, and PET/MRI scans to look inside the brain
The treatment plan is influenced by the answers to two questions. First, is there an etiologic diagnosis that lends itself to specific therapy? Second, what is the potential for normal or much improved developmental outcome? Appropriate long-term developmental goals should be defined prior to initiation of therapy. Unlike treatment of other seizure types, there is only one goal for treatment of infantile spasms: the complete control of spasms. If spasms cannot be controlled, the child is unlikely to do well developmentally, and a 50% or 90% reduction does not provide for this possibility.
Unfortunately, for many patients, the only goal that can be obtained is amelioration of seizures, because the underlying diagnosis precludes normal development (e.g., lissencephaly or status posthypoxic ischemic encephalopathy, with severe brain damage). Nevertheless, seizure control should still sought because it greatly improves the parents’ life; however, expectations should be explained in advance. For other patients, there may be an opportunity to significantly improve the developmental outcome. The patients with the best prognosis are those with a cryptogenic etiology and possibly some patients with tuberous sclerosis or a localized cortical dysplasia.
Medical treatment options are somewhat different for infantile spasms than for other seizure types. There are two drugs with solid evidence of efficacy: ACTH and vigabatrin. Older medications, such as phenobarbital, carbamazepine, or phenytoin, are rarely helpful. There is growing evidence that some of the newer drugs, high-dose intravenous immunoglobulin, and the ketogenic diet may be effective. For patient with localizable brain abnormalities, cortical resection offers the possibility of seizure control if medications fail.
How Are Infantile Spasms Treated?
The American Academy of Neurology and the Child Neurology Society recommend adrenocorticotropic hormone (ACTH) as the first line of therapy for infantile spasms. This medication is given as a shot. The first doses are given in the hospital so your child can be closely watched for any side effects. Since your child will need to continue to get ACTH shots for about 6 weeks, you will be instructed on how to give your child the injections at home. The goals for this medication are to
- Completely stop the infantile spasms.
- Improve the abnormal EEG.
In some cases, pediatric neurologists prescribe the seizure medication Vigabatrin. Both drugs work well, but your child’s doctor will talk with you about which medicine may be the better choice for your child.
Infantile spasms usually are treated with seizure medicines or steroids. If medicines don’t control the spasms, a special diet, such as the ketogenic diet, might help. Sometimes, doctors may recommend surgery.
Early diagnosis and treatment of infantile spasms may help to lessen developmental issues. Treatments may include:
- adrenocorticotropic hormone (ACTH) or high dose prednisolone
- vigabatrin (a specific anti-seizure medication)
- ketogenic diet
- anti-seizure medications
If your child has difficult-to-control spasms, treatment with epilepsy surgery may be an option. When evaluating for epilepsy surgery your doctor may want to get a PET (positron emission tomography) scan in addition to an MRI and EEG. Depending upon the findings from these tests, your child’s doctor may recommend epilepsy surgery, such as lobar resection or hemispherectomy, or a palliative procedure such as corpus callosotomy. Your child’s doctor will review the treatment options that may work best for your child.
It is essential for infantile spasms to be treated as quickly as possible with the most effective therapies. Treatments that should be tried first before other therapies for children with infantile spasms include
- Steroid therapy with either prednisone/prednisolone or adrenocorticotropic hormone (ACTH)
- ACTH is given by injection into a muscle and prednisone or prednisolone is given by mouth to swallow.
- Side effects of steroid or ACTH therapy include infection, high blood pressure, stomach irritation, irritability, weight gain and puffiness.
- Vigabatrin (Sabril)
- This medicines comes as tablets or a powder that can be mixed into a solution and swallowed. It is given twice a day.
- Vigabatrin is a particularly effective option for children whose spasms are due to tuberous sclerosis complex.
- Vigabatrin has rarely been associated with permanent loss of peripheral vision, but this side effect is of more concern when the drug is used for many months. Long term treatment with vigabtrin is usually not needed for children with spasms. Monitoring vision in a baby on this drug is important.
- Studies are being done to see if combining steroids/ACTH and vigabatrin may be more effective for seizure control and improve a child’s development long-term.
- If the first two medicines tried (for example steriods, vigabatrin) don’t work, other anti-seizure medications that may be helpful include: valproate (Depakote), topiramate (Topamax), pyridoxine (vitamin B6), zonisamide (Zonegran), clobazam (Onfi) or clonazepam (Klonopin). However, these medicines are less effective than steroids/ACTH and vigabatrin, so should not be used first.
If infantile spasms continue despite treatment with ACTH or steroid and vigabatrin, children should be seen by a pediatric epilepsy specialist to consider the best course of therapy.
Epilepsy surgery should be considered early in a select group of children who have a focal area (specific location in the brian) leading to the spasms. This includes some children with tuberous sclerosis complex or malformations of the brain.
- In these children, there are often focal features to the spasms, such as head or eye turning to one side.
- EEGs are less likely to have a typical hypsarrhythmia pattern and may show more focal discharges.
The ketogenic diet has been reported to be safe, well tolerated and possibly effective for treating children with infantile spasms who do not respond to ACTH or steroid and vigabatrin.
How Can I Help My Child?
To help your child, follow the doctor’s instructions to:
- Give any medicines as prescribed.
- Go for developmental assessments and therapies.
- Make and keep all follow-up appointments.
What is the outlook for children with infantile spasms?
Children with infantile spasms are at risk for developing other types of seizures as they age. They also may be at risk for autism and cognitive delays. Early diagnosis and treatment may help reduce this risk.
Even if the infantile spasms stop, many children develop other kinds of epilepsy and have intellectual or other developmental disabilities later in life. If the treatment is prompt and successful, the outlook is brighter. Normal development is possible for those who were developing on track before the spasms started.
- Most children with infantile spasms have intellectual disabilities later in life.
- Children with IS have a higher chance of moderate to severe developmental delay if they have an underlying brain disorder or injury.
- The outlook is brighter for those who were developing normally before the spasms started – 10 to 20% will have normal mental function and some others may be only mildly impaired.
- Some children with infantile spasms develop autism.
- Treating seizures early and appropriately is critical to maximizing the child’s developmental potential.
- Even if the infantile spasms stop, most children later develop other kinds of epilepsy, including Lennox-Gastaut syndrome and focal or multifocal epilepsy. These types of epilepsy do not respond to medicines well.