Infantile Spasms

Overview

Infantile spasms are a type of seizure seen in infants. They typically begin at 3-6 months of age and are the main feature of a seizure syndrome known as West syndrome. Though the terms West syndrome and infantile spasms are used interchangeably, the latter term is preferred.
A child with infantile spasms may have sudden stiffening of the legs and arms while bending forward at the waist; the movements may be asymmetrical. The spasms are brief, but they tend to occur in clusters lasting several minutes or more. They do not usually occur during sleep but are often observed upon awakening. They can be subtle and are sometimes confused with the Moro reflex or colic.
Different types of infantile spasms are associated with varying outcomes (discussed later):

Symptomatic: A specific etiology can be identified through history, physical exam, or testing, including genetic testing. Of children with infantile spasms, 61-70% of children have the symptomatic type. [Pellock: 2010] [Wirrell: 2015]
Idiopathic: Children have normal development and neurologic exams at the onset of spasms and a higher likelihood of "growing out" of them, particularly if the spasms respond well to medication. This suggests that early diagnosis and treatment may affect the outcome in children with idiopathic infantile spasms.
Cryptogenic: Children are either developmentally delayed or have an abnormal neurologic exam at the onset of spasms, but no specific cause can be identified. The proportion of children in this category will likely decrease as genetic testing becomes more broadly useful.

Infants with infantile spasms may demonstrate a delay in or loss of previously achieved developmental milestones. Findings may include poor tone, poor head control, loss of eye contact, decreased responsiveness to sounds and eye contact, and a decrease in alertness. Additional seizure types are seen in 30-50% of infants with this syndrome. Spasms usually stop as the infant gets older, but other seizure types often take their place.

Other Names & Coding

Hypsarrhythmia Lightning spasms West syndrome

ICD-10 coding

G40.821, Epileptic spasms not intractable, with status epilepticus

G40.822, Epileptic spasms not intractable, without status epilepticus

G40.823, Epileptic spasms intractable, with status epilepticus

G40.824, Epileptic spasms intractable, without status epilepticus

Further coding details can be found by using the search feature at ICD10Data.com.

Prevalence

The prevalence rate is 0.15 to 0.2 per 1000 children 10 years of age or younger. [Mackay: 2004]

Genetics

Many of the causes of infantile spasms are genetic, including tuberous sclerosis, metabolic disorders, and chromosomal abnormalities. ARX and CDKL5 genes are associated with infantile spasms in some infants with cryptogenic infantile spasms. [Guerrini: 2007] [Bahi-Buisson: 2008]

Prognosis

Treatment is more likely to result in complete or near-complete recovery in those with idiopathic infantile spasms than in those with symptomatic or cryptogenic infantile spasms. [Partikian: 2009] [Mackay: 2004]
In general, the prognosis depends on the etiology of the spasms and whether there is developmental delay or an abnormal neurologic exam at the time of presentation. A good outcome is associated with a lack of identifiable etiology, normal neurologic exam and development at the time of presentation, older age at onset, and a relatively quick and complete response to treatment of the spasms.
Most infants with infantile spasms have poor outcomes: 70-90% of children will have intellectual disability that is usually severe to profound, about 50% will develop some signs of cerebral palsy, and a smaller percentage of children will demonstrate autistic symptoms. [Partikian: 2009] [Mackay: 2004] Development may be improved with early, effective treatment, although the optimal regimen is not known. [Hamano: 2007] [Kivity: 2004] Between 40-60% of children with infantile spasms will develop Lennox-Gastaut syndrome, a refractory epilepsy syndrome of childhood. [Zupanc: 2009] The evolution from infantile spasms to Lennox-Gastaut syndrome may be decreased by early, effective treatment, although there is only circumstantial evidence for this. [You: 2009]

Practice Guidelines

Go CY, Mackay MT, Weiss SK, Stephens D, Adams-Webber T, Ashwal S, Snead OC 3rd.
Evidence-based guideline update: medical treatment of infantile spasms. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Neurology. 2012;78(24):1974-80. PubMed abstract / Full Text

Hancock EC, Osborne JP, Edwards SW.
Treatment of infantile spasms.
Cochrane Database Syst Rev. 2008(4):CD001770. PubMed abstract

Roles of the Medical Home

Although a pediatric neurologist usually initiates the treatment for infantile spasms, the medical home clinician provides the initial emergency referral for suspicion of infantile spasms, the ongoing care, and monitors for side effects during treatment. Concerns about developmental abilities will be addressed through the medical home; developmental monitoring and referral to outside agencies such as Early Intervention programs are crucial.

Clinical Assessment

Overview

Primary care clinicians should consider a diagnosis of infantile spasms in an infant with unusual movements that cluster on awakening, especially if the infant already has developmental delay. Recognition of infantile spasms by the primary care clinician is often delayed more than a week, which may make them more difficult to manage. [Hussain: 2017] [Hamano: 2007]
If EEG confirms the diagnosis, an etiology for the spasms should be sought through imaging and genetic testing. Ongoing assessment during treatment is needed to assess response and monitor health, growth, and development. The frequency of follow-up visits during treatment will vary; an infant receiving high-dose steroids should be seen at least weekly.

Pearls & Alerts for Assessment

Delay in diagnosis/treatment

Infants with infantile spasms have better outcomes if spasms are treated early and stopped completely; however, the median time from onset to first visit with a pediatric neurologist is 24.5 days, and the parents’ concerns often ignored initially. [Nasuti: 2010] [Hussain: 2017]

Clusters on awakening

Infantile spasm clusters on awakening, whether in the morning or after a nap. If the family describes unusual movements in their infant with this pattern, infantile spasms should be strongly considered.

Infantile spasms and vaccines

Although it will sometimes seem to families that the onset of infantile spasms was caused by vaccine administration, no convincing evidence supports this causality. [Willmore: 2009]

Developmental assessments

Even a child who is developing typically when infantile spasms begin may show a slowing of milestone achievement or regression. The medical home clinician should consider frequent developmental evaluation while infantile spasms continue. Developmental assessments may be available through Early Intervention programs (See Services below).

Screening

No routine screening is recommended for infantile spasms, family members of children with infantile spasms, or children with infantile spasms for complications or co-morbid conditions, though surveillance and testing for the latter are warranted.

Presentations

Although spasms may begin as early as 1 month after birth or as late as 2 years, in most affected children, they begin between 4-6 months and, in approximately 90%, within their first year of life. Infantile spasms are diagnosed when an infant has some combination of spasms that are present in clusters and great numbers (many spasms in a cluster and sometimes many clusters a day), developmental delay, and a characteristic EEG pattern called hypsarrhythmia (high-amplitude chaotic abnormal pattern).
Characteristic symptoms include rapid muscular contractions of extremities in any of several patterns, including flexion, extension, and mixed patterns.
For example:

Extension/stiffening of the trunk, arms, and legs
Flexing at the waist, especially obvious when sitting
Thrusting arms to side or across chest
Repetitive head bobbing or nodding
Drawing up of legs to the chest when lying down

Individual spasms last only 1-2 seconds each and usually occur in clusters of just a few to a hundred. Clusters may occur many times a day, are common when the child is awakening in the morning or after a nap, and may be accompanied by irritability and crying. The child's developmental trajectory often slows or reverses around the time of spasm onset. Families may notice a decrease in developmental progress and interaction with the environment - or just that “something is wrong” with their child without being more specific. [Hussain: 2017] Video taken by parents of concerning behavior can be useful for the medical home provider and pediatric neurologist.
See Diagnosis and Management of Infantile Spasms (AAP) for more information.

Diagnostic Criteria

The term “infantile spasms” is often used somewhat interchangeably with West syndrome. To meet criteria for West syndrome, the child must demonstrate the triad of spasms, intellectual disability, developmental delay, and hypsarrhythmia on EEG.

Clinical Classification

The 3 types of infantile spasms are:
Symptomatic
In symptomatic infantile spasms, a specific etiology can be identified through history, physical exam, or testing, including genetic testing.
Tuberous sclerosis and perinatal asphyxia are the most common etiologies. Other causes include cortical brain malformations, metabolic disorders (e.g., maple syrup urine disease, pyridoxine dependency, nonketotic hyperglycemia, phenylketonuria), chromosomal abnormalities, other neurocutaneous syndromes, infection, including prenatal infections (e.g., congenital CMV), and brain tumors. Of children with infantile spasms, 61-70% of children have the symptomatic type. [Pellock: 2010] [Wirrell: 2015]
Idiopathic
Infants with idiopathic infantile spasms have normal development and neurologic exams at the onset of spasms and a higher likelihood of "growing out" of them, particularly if the spasms respond well to medication. This suggests that early diagnosis and treatment may affect the outcome in children with idiopathic infantile spasms, although children who do and do not respond to medication may represent different populations that we are yet unable to differentiate. [You: 2009]
Cryptogenic
Some neurologists identify a third group, cryptogenic infantile spasms, in which children are either delayed developmentally or have an abnormal neurologic exam at the onset of the spasms but no specific cause can be identified. The proportion of children in this category will likely decrease as genetic testing becomes more broadly useful.

Differential Diagnosis

Infantile spasms are diagnosed by the appearance of the seizures (seizure "semiology"), the characteristic age at which they appear, and distinct abnormalities on EEG. If an EEG obtained in a child with suspected infantile spasms is normal, the diagnosis should be reconsidered.
Other differential diagnoses to consider:
Moro reflex is a normal finding in infants up to about 3 or 4 months. When the infant is quickly moved, he/she will look startled, fling his/her arms out (palms up), and then draw the arms back to the body, and relax. See Illustration of Moro Reflex (MedlinePlus).
Bobble-headed doll syndrome is a movement disorder seen in children where there is episodic up-and-down or side-to-side movement at 2-3 Hz. This disorder is often associated with third ventricle tumors, aqueductal stenosis, communicating hydrocephalus, and other structural brain disorders that can be diagnosed with brain MRI.
Spasmus nutans is a disorder seen in infants and young children. It consists of rapid, uncontrolled eye movements, head bobbing, and sometimes abnormal head positioning. Although an MRI of the brain is often performed to rule out brain abnormalities, a cause for this movement disorder is rarely found, and it usually resolves without treatment after several months. [Dugdale: 2009]
Other seizure types - Although infantile spasms may appear similar to myoclonic and tonic seizures, they are distinct and will require different treatment. It may be helpful for the family to record episodes on video and to look for the initial contraction followed by a longer tonic phase that is typical for infantile spasms. Look for the combination of developmental delay and the characteristic EEG pattern.
Sandifer syndrome is body stiffening due to gastroesophageal reflux, but it may look similar to the tonic spasms seen in infantile spasms. Differentiating them may require additional workup, including a pH probe and an upper GI series. Sandifer syndrome may be seen with severe reflux, and it lacks the EEG findings of infantile spasms.

Comorbid & Secondary Conditions

Additional seizure types are seen in 30 to 50% of infants with this syndrome. Spasms usually stop as the infant gets older, but other seizure types often take their place.

History & Examination

Clues to the etiology should be looked for when conducting the initial history and exam.

Current & Past Medical History

Ensure newborn screening was performed and results are normal. Ask about symptoms that might signal metabolic disease (e.g., unusual smelling urine, episodes of hypoglycemia or unresponsiveness, vomiting). Ask about any previous illnesses. Infants should be monitored for irritability, history of infections, and evidence of heart failure, including fatigue, listlessness, sweating, or tiring easily while eating. Look for increased thirst and wet diapers as a sign of hydration.

Family History

Inquire about a family history of neurocutaneous disorders, especially tuberous sclerosis (this diagnosis may change treatment), seizures, and developmental delay/intellectual disability.

Pregnancy/Perinatal History

Inquire about problems during pregnancy that might have led to hypoxic-ischemic encephalopathy, such as intrauterine growth retardation, maternal illness, and toxin exposures. Ask about history or symptoms of CNS infection, possibly prenatal, such as CMV, herpes simplex, or meningitis/encephalitis. About 50% of infantile spasms cases are due to a prenatal cause. [Pellock: 2010]

Developmental & Educational Progress

It is important to take a full developmental history. Development will need to be followed closely in the medical home.

Social & Family Functioning

Ask about finances, distance from pediatric medical care, and the presence of support systems - the care of a child with infantile spasms can put significant emotional and financial strains on a family. Coping skills and resources should be assessed periodically.

Physical Exam

General

Check for dysmorphic features. Chromosomal and genetic abnormalities that have been associated with infantile spasms include trisomy 21, Miller-Dieker syndrome, CDKL5, and ARX mutations. Look for alertness, level of interaction with the environment, irritability, and signs of infection.

Vital Signs

Check as a baseline before starting medications; BP should be checked weekly for infants on high-dose steroids.

Growth Parameters

Ht | Wt | OFC Monitor weight weekly; excessive weight gain may occur in infants on high-dose steroids.

Skin

Look for skin coloration abnormalities, especially the swirling pattern of hyperpigmented skin seen in Incontinentia Pigmenti (NINDS) or hypomelanotic ash-leaf macules associated with tuberous sclerosis. These may be difficult to see in light-skinned infants, so at least 1 exam using a Woods lamp should be performed in all infants with infantile spasms.

Neurologic Exam

Screening neurologic exam for asymmetries, tone problems, eye movement abnormalities, etc.

Testing

Once the diagnosis of infantile spasms has been confirmed with EEG, testing for etiology is performed. Almost anything that causes brain damage can be associated with infantile spasms; an etiology can be found for about 3/4 of infants with infantile spasms, although this number continues to increase with the availability of genetic testing. The Infantile Spasms Diagnostic Algorithm (Primary Children's Hospital, Pediatric Neurology) ( PDF Document

94 KB) may guide the workup. The diagnostic evaluation should be tailored to the individual child, so not all studies are recommended for all children.

Laboratory Testing

If no other cause is found for infantile spasms, metabolic causes should be considered and newborn testing results confirmed. Testing may include serum amino acids, serum lactate, pyruvate, biotinidase, copper, ceruloplasmin, urine organic acids, urine purine and pyrimidine panel, urine sulfocysteine, and CSF neurotransmitter testing. Consultation with a metabolic geneticist may be valuable.
Screen for fecal occult blood and urine for glucose periodically in infants on high-dose steroids.

Imaging

The majority of infantile spasms with known etiologies are due to congenital, genetic, and acquired structural abnormalities, such as cortical dysplasia and stroke. Therefore, the first step recommended for testing for etiology is imaging, preferably MRI. In most cases, this would be done sedated and without contrast.

Genetic Testing

If the MRI is normal, genetic testing is recommended as being more likely to lead to a diagnosis. A microarray and/or epilepsy gene panel should be ordered first with whole exome sequencing to follow if no etiology is found.

Other Testing

An EEG - wake and sleep - is particularly helpful when recorded during an episode thought to be infantile spasms. Hypsarrhythmia or modified hypsarrythmia, a very high-voltage chaotic pattern, is found in the majority of cases. Multifocal spike discharges (MSD) are found in the remainder. A follow-up EEG may be useful to assess treatment response.
If the infant is on vigabatrin, perform ophthalmological assessments approximately every 3-month after the baseline evaluation to follow for retinal changes associated with vision loss.

Specialty Collaborations & Other Services

Pediatric Neurology (see NW providers [0])

Generally, children with infantile spasms should be evaluated and treated by a pediatric neurologist. Infants who are probably having infantile spasms may be admitted for evaluation to expedite testing and treatment or seen urgently in an outpatient clinic. Contact pediatric neurology to arrange for evaluation as quickly as possible.

Medical Genetics (see NW providers [1])

Some children will have associated or causative genetic abnormalities. Genetic evaluation should be coordinated with Pediatric Neurology and may be available in pediatric neurology clinics.

Developmental - Behavioral Pediatrics (see NW providers [1])

Referral may be helpful for developmental evaluation and to identify strategies for improving delays.

Pediatric Ophthalmology (see NW providers [1])

Referrals may be helpful for diagnosis and monitoring of vision, and they will be necessary if the infant is on vigabatrin.

Early Intervention for Children with Disabilities/Delays (see NW providers [3])

Infants should be enrolled in Early Intervention programs to follow and provide support for developmental progress.

Treatment & Management

Overview

Etiology often determines the prognosis for seizure cessation and eventual developmental outcome. Specific therapies exist for a few of the underlying disorders, including pyridoxine-dependent seizures and focal cortical dysplasias (treated with vitamin B6 and surgical resection, respectively).
Because recent research suggests that hypsarrhythmia is difficult to recognize on EEG and experts may disagree, treatment should be initiated in infants with seizures consistent with infantile spasms and an abnormal EEG even if it is not read as hypsarrhythmia. [Demarest: 2017]

Pearls & Alerts for Treatment & Management

Immunizations timing and high-dose steroids

Immunizations should be postponed until at least a month after discontinuing high-dose steroids used to treat infantile spasms.

Do not delay in treating infantile spasms, and do not stop treatment without consulting pediatric neurology

Complete cessation of seizures is the goal when treating infantile spasms. Developmental outcome may be better if the spasms are controlled quickly. [You: 2009]

Treatments if there are known etiologies

A few causes of infantile spasms have treatments, including pyridoxine-dependent epilepsy and glucose transporter deficiency.

How should common problems be managed differently in children with Infantile Spasms?

Viral Infections

Children on prednisolone or ACTH for infantile spasms may have an altered immune system, and care should be taken if the child becomes ill.

Bacterial Infections

Children on prednisolone or ACTH for infantile spasms may have an altered immune system, and care should be taken if the child becomes ill.

Systems

Neurology

Treatment is generally provided by a pediatric neurologist in communication with the medical home clinician who will perform much of the ongoing monitoring. Treatment is pursued early and aggressively since the prognosis is extremely poor without treatment and early treatment may affect the outcome. [You: 2009] The goal of treatment is cessation of infantile spasms and normalization of the EEG. Treatment options include ACTH, vigabatrin (Sabril), prednisolone/prednisone, anticonvulsants (e.g., topiramate), other medications, and the Ketogenic diet. [Kossoff: 2008] [Prezioso: 2018] Surgery may also be an option for a minority of patients.
Ketogenic diet
One study found the ketogenic diet effective in fewer patients than ACTH (62% of infants became spasm-free with the ketogenic diet vs. 90% of infants given ACTH), although side effects also occurred less often (31% with the ketogenic diet vs. 80% for ACTH). [Kossoff: 2008] [Eun: 2006]. Since the nutritional content of infant formula is easier to control than that of a varied solid and liquid diet, the ketogenic diet is easier to manage in infants than in children. Further studies with variations of the ketogenic diet are necessary to understand its role in treatment. [Kossoff: 2008] [Prezioso: 2018] See Ketogenic Diet for further details.

Specialty Collaborations & Other Services

Pediatric Neurology (see NW providers [0])

Treatment will generally be initiated by pediatric neurology with collaborative monitoring for efficacy and side effects, as well as developmental progress, by the medical home.

Pediatric Ophthalmology (see NW providers [1])

Infants on vigabatrin need pre-vigabatrin treatment screening, subsequent screening, and post-treatment screening.

Pharmacy & Medications

Which treatment option to choose will be determined by patient characteristics and local expertise. Some considerations when choosing medication may be:

In infants without tuberous sclerosis, hormonal treatments appear to be superior to vigabatrin for achieving seizure cessation, with short-term success in about 3/4 of infants, compared to about 1/2 with vigabatrin. Excluding effects on vision, adverse effects were similar in the hormonal groups and the vigabatrin groups.
Cessation of spasms may occur more quickly in infants treated with ACTH or prednisolone, which may have a beneficial effect on development. Although prednisolone and ACTH appear to be of similar efficacy and have about the same incidence of adverse effects, prednisolone is easier to administer and much less expensive. However, treatment with ACTH has been the gold standard and further studies are needed.

Whatever medication is chosen first, if spasms don’t stop, an increase in dose or a new medicine should be tried to stop the spasms. An example is shown in the Infantile Spasms Treatment Algorithm (Primary Children's Hospital, Pediatric Neurology) ( PDF Document

173 KB).
ACTH
ACTH at varying doses has been the treatment of choice in the United States for many years and continues to be used by some pediatric neurologists despite its escalating cost.
Dosing: Somewhere between 50-91% of children stop having infantile spasms with the 40 IU/m2 dose; a higher dose may be tried in infants who respond incompletely.
ACTH is typically continued for 4 weeks after the spasms stop. [Mackay: 2004] If relapses occur, a second course of ACTH may stop the spasms again, or different treatment might be tried.

Side effects: ACTH must be given by IM injections. It has many potentially serious side effects. Possible side effects include weight gain, hypertension, metabolic abnormalities, ulcers leading to gastric hemorrhage, irritability, sepsis, osteoporosis, and heart failure caused by dilated cardiomyopathy (some series show up to a 5% mortality rate).
Considerations: ACTH may be particularly useful in children who have infantile spasms due to hypoxic-ischemic encephalopathy. [Vigevano: 1997]

Infants are usually started on GI prophylaxis (e.g., ranitidine) to prevent gastrointestinal bleeding and a low-salt diet to prevent hypertension. Children are monitored by the medical home clinician, sometimes with the help of home health, to check weight, irritability, blood pressure, fecal occult blood, and urine glucose. See Acthar GEL Manufacturer Information (Mallinckrodt Pharmaceuticals) for important safety information.
Vigabatrin
In 2009, vigabatrin was licensed by the FDA to treat infantile spasms in children 1 month to 2 years of age. Due to the high incidence of vision loss, use of generic and brand name (Sabril) vigabatrin is restricted to patients registered with the manufacturer. Medications require dispensing from a specialty pharmacy.
Vigabatrin is thought to be more effective in infants with infantile spasms due to tuberous sclerosis, and in these cases, it is often the first-line treatment even though there are no evidence-based recommendations for appropriate dosing. [Pellock: 2010] In a study where infants with tuberous sclerosis were excluded, after 2 weeks of treatment, only 54% of infants responded to vigabatrin therapy compared to 70% and 76% receiving prednisolone or ACTH, respectively. [Lux: 2004] However, 12-14 months after initiation of treatment, percentages were similar in vigabatrin and hormone-treated groups. [Lux: 2004]

Dosing: Use vigabatrin at the lowest dose possible for the shortest duration possible, and stop it if there is no observed benefit after 2-4 weeks. Vigabatrin is given to families in packets of powder, which they reconstitute. Detailed instructions are provided, but the medical home clinician may need to ensure that families are giving the medication correctly. When stopping vigabatrin, the dosage should be tapered gradually. Vigabatrin Manufacturer Information (Lundbeck Pharmaceuticals) for prescribing information.
Side effects/vison: Retinal defects manifest in 15-30% of infants treated with vigabatrin; this percentage is probably smaller than that for adults. [Gaily: 2009] [Willmore: 2009] Vision loss may be linked to taurine deficiency and, if this association is confirmed, may be amenable to dietary treatment. [Jammoul: 2009] The degree of vision loss appears to be related to cumulative dose, but it may worsen after vigabatrin has been stopped. It is difficult to measure vision loss in infants, but the retinal defects thought to correlate with vision loss in adults are found, at the earliest, about 3 months after initiating treatment, making short-term use seem relatively safe. [Willmore: 2009] In adults, vision loss usually manifests as permanent bilateral concentric visual field constriction, leading to loss of peripheral vision. Baseline vision screening and periodic retesting (usually at 3-month intervals and after therapy has been discontinued) are recommended but not mandatory.
Side effects/other: MRI changes have also been observed in some infants receiving vigabatrin for infantile spasms. These changes, which are of uncertain significance, involve increased T2 signal and a restricted, symmetric, diffusion pattern in the thalamus, basal ganglia, brain stem, and cerebellum. There is no suggested screening for these changes. Other side effects, including somnolence, fatigue, weight gain, edema, anemia, and peripheral neuropathy, have been observed in adults.
Considerations/hormonal treatment: Because earlier control of infantile spasms may be correlated with improved developmental outcome, hormonal treatment may be preferable over vigabatrin. [Lux: 2005] Adverse effects were common, and excluding any effects on vision occurred at similar rates with vigabatrin and hormonal treatments. [Lux: 2004]
Considerations/combo-therapy: Some suggest a combination of vigabatrin and high-dose prednisolone therapy, although there is no evidence at this point to suggest that the combination is better than either alone. [Ko: 2018]

Oral prednisolone
The UKISS study showed that infantile spasms ceased in approximately 70% with high-dose prednisolone compared to 76% with ACTH. [Lux: 2004] Infants treated with prednisolone had fewer adverse effects (53% compared to 80% with ACTH; prednisolone was $200 for the course, whereas ACTH averaged around $70,000. [Kossoff: 2008] Other study groups have found similar results. [Azam: 2005]

Dosing: Dosage ranges from 6 to 8 mg/kg/day, maximum daily dose of 60 mg, although there are variations in the schedule. The duration of therapy is short, and response is usually achieved within 2 weeks, although the dose needs to be tapered down over several weeks.
Side effects: Irritability, increased appetite, weight gain, hypertension (high blood pressure), and hyperglycemia (high blood sugar), immune system dysfunction
Considerations: Because of the prohibitive cost of ACTH, oral prednisolone has recently been investigated and may be equivalent to ACTH treatment, with fewer side effects and lower cost. See Infantile Spasms Treatment Algorithm (Primary Children's Hospital, Pediatric Neurology) ( 173 KB).

High-dose topiramate

Dosing: At least 6 mg/kg/day, may also be effective, with about 1/2 of infants becoming seizure-free.
Side effects occurred in approximately 39%. [Zou: 2008] Also see [Peltzer: 2009].
Considerations: May be used if prednisolone/ACTH not appropriate or by physician choice.

Other medications
Newer antiepileptic medications and high-dose intravenous immunoglobulin are also being studied as possible treatments, and trials of everolimus for infants with tuberous sclerosis and infantile spasms are ongoing. [Samueli: 2018]
Everolimus is an emerging possibility for infants with tuberous sclerosis. [Samueli: 2018] Other medications have been tried, and may occasionally help, but in general, they have been unsuccessful in stopping infantile spasms.

Specialty Collaborations & Other Services

Pediatric Neurology (see NW providers [0])

Treatment will generally be initiated by pediatric neurology with collaborative monitoring for efficacy and side effects, as well as developmental progress, by the medical home.

Pediatric Ophthalmology (see NW providers [1])

Infants on vigabatrin need pre-vigabatrin treatment screening, subsequent screening, and post-treatment screening.

Development (general)

Children who present with infantile spasms may have slow development or may have met early milestones and then show slower progress or regression after infantile spasms start. All children with infantile spasms should have periodic developmental assessment and be referred to Early Intervention. Physical, occupational, and speech therapy may be helpful for some patients.

Specialty Collaborations & Other Services

Developmental - Behavioral Pediatrics (see NW providers [1])

May be helpful for developmental progress monitoring and management suggestions

Early Intervention for Children with Disabilities/Delays (see NW providers [3])

Important for frequent monitoring of development and helping families support developmental progress

Physical Therapy (see NW providers [0])

If Early Intervention is not adequate, may be helpful for patients who are not meeting gross motor milestones.

Occupational Therapy (see NW providers [1])

If Early Intervention is not adequate, may be helpful for patients who are not meeting fine motor milestones.

Speech - Language Pathologists (see NW providers [4])

If Early Intervention is not adequate, may be helpful for patients who are not developing language appropriately.

No Related Issues were found for this diagnosis.

Ask the Specialist

Can children with infantile spasms receive vaccines?

Vaccines should be delayed in children with infantile spasms who are receiving treatment with hormonal therapies (prednisolone and ACTH) because they may be more likely to become infected from some types of vaccines, and more importantly, hormonal therapies greatly reduce the usefulness of vaccines. Children are generally on these medications short term: catch-up vaccination should occur several months after they are discontinued.

Do certain causes of infantile spasms suggest that one treatment or another should be used?

Children with infantile spasms due to tuberous sclerosis may be more likely to respond to vigabatrin than other treatments. Although children with Down syndrome respond to treatment as typical infants do, it is sometimes more difficult to recognize infantile spasms with existing hypotonia and developmental delays, and possibly more important to treat as early as possible since children with Down syndrome are likely to have baseline developmental delay even without the occurrence of infantile spasms.

Resources for Clinicians

On the Web

Infantile Spasms (NINDS)
Information about diagnosis, treatment, and current research; National Institute of Neurological Disease and Stroke.

Diagnosis and Management of Infantile Spasms (AAP)
A guide to early recognition and diagnosis of infantile spasms; American Academy of Pediatrics.

Clinician's Guide to Infantile Spasms (NORD)
Information for families that includes synonyms, signs & symptoms, causes, affected populations, related disorders, diagnosis, therapies (both standard and investigational), and support organizations; National Organization of Rare Disorders.

Helpful Articles

PubMed search for articles published in the last 2 years about infantile spasms

Kelley SA, Knupp KG.
Infantile Spasms-Have We Made Progress?.
Curr Neurol Neurosci Rep. 2018;18(5):27. PubMed abstract

Wheless JW, Gibson PA, Rosbeck KL, Hardin M, O'Dell C, Whittemore V, Pellock JM.
Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents.
BMC Pediatr. 2012;12:108. PubMed abstract / Full Text

Clinical Tools

Care Processes & Protocols

Infantile Spasms Treatment Algorithm (Primary Children's Hospital, Pediatric Neurology) ( PDF Document 173 KB)
An example of an algorithm for managing infantile spasms, from the Division of Pediatric Neurology, University of Utah Department of Pediatrics at Primary Children’s Hospital.

Infantile Spasms Diagnostic Algorithm (Primary Children's Hospital, Pediatric Neurology) ( PDF Document 94 KB)
An example of an algorithm for diagnosing infantile spasms, from the Division of Pediatric Neurology, University of Utah Department of Pediatrics at Primary Children’s Hospital.

Patient Education & Instructions

Let's Talk About... Infantile Spasms (Spanish & English)
Describes what spasms look like and the causes, treatments, and prognosis; Intermountain Healthcare.

Resources for Patients & Families

Information on the Web

Infantile Spasms (NINDS)
Information about diagnosis, treatment, and current research; National Institute of Neurological Disease and Stroke.

Infantile Spasms (American Academy of Neurology) ( PDF Document 355 KB)
Information about recognition and treatment of infantile spasms from the American Academy of Neurology

National & Local Support

Epilepsy Foundation
A national organization that provides information about epilepsy; programs to improve epilepsy treatment; materials to assist in helping people with epilepsy find jobs; activities in schools to educate the public; activities to educate policymakers; funds for research; links to find local and state resources; and news about conferences and other items of interest.

Studies/Registries

Infantile Spasms (Clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Services for Patients & Families Nationwide (NW)

Service Categories	NW		NM	NV	OH	RI
Developmental - Behavioral Pediatrics	1	2	2	2	12	9
Early Intervention for Children with Disabilities/Delays	3	35	32	3	14	54
Medical Genetics	1	2	5	1	4	8
Occupational Therapy	1	17	27	2	20	38
Pediatric Immunology		3	1		6	5
Pediatric Neurology		5	5		17	7
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Authors & Reviewers

Initial publication: May 2013; last update/revision: January 2020

Current Authors and Reviewers:

Author:	Lynne M. Kerr, MD, PhD
Reviewer:	Audie Chris Espinoza, MD

Authoring history

2013: first version: Lynne M. Kerr, MD, PhD^A; Denise Morita, MD^A; Paula Peterson, APRN, PNP^A; Matthew Sweney, MD^A

^AAuthor; ^CAContributing Author; ^SASenior Author; ^RReviewer

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