Infantile Spasms

Usually, infantile spasms occur in infants with serious brain disorders and developmental abnormalities that often have already been recognized. These disorders may include

Tuberous sclerosis complex Tuberous Sclerosis Complex (TSC) Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging... read more is a common cause; prognosis is sometimes better when seizures are caused by this disorder than when seizures have other identifiable causes.

Sometimes the cause of infantile spasms cannot be identified.

Spasms begin with a sudden, rapid, tonic contraction of the trunk and limbs, sometimes for several seconds. Spasms range from subtle head nodding to contraction of the whole body. They involve flexion, extension, or, more often, both (mixed). The spasms usually occur in clusters, often several dozen, in close succession and occur typically after children wake up and occasionally during sleep. Sometimes, at first, they are mistaken for startles.

Developmental delays (see Childhood Development Childhood Development Development is often divided into specific domains, such as gross motor, fine motor, language, cognition, and social/emotional growth. These designations are useful, but substantial overlap... read more ) are usually present. In the first stages of the disorder, developmental regression can occur (eg, children may stop smiling or lose the ability to sit up or roll over).

Rate of premature death ranges from 5 to 31% and is related to the etiology of the infantile spasms.

Previous history (eg, neonatal hypoxic-ischemic encephalopathy) and/or symptoms and signs suggest the diagnosis of infantile spasms in some children. Physical and neurologic examinations are done, but often no pathognomonic findings are identified except in tuberous sclerosis complex Tuberous Sclerosis Complex (TSC) Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging... read more .

EEG is done to confirm the diagnosis and check for specific abnormalities. Typically, the interictal pattern is hypsarrhythmia (chaotic, high-voltage polymorphic delta and theta waves with superimposed multifocal spike discharges). Multiple variations (eg, focal or asymmetric hypsarrhythmia) are possible. The ictal pattern is usually a sudden, marked and diffuse attenuation of electrical activity.

Neuroimaging, preferably MRI, is done if it has not already recently been done.

Infantile spasms are not responsive to typical antiseizure drugs.

ACTH is the most effective treatment. Both high-dose (150 units/m²) ACTH and low-dose (20 units/m²) ACTH, given daily IM, have been used. The Pediatric Epilepsy Research Consortium (PERC) recommends the higher dose, given for 2 weeks and then tapered down every 3 days until 29 days of treatment are completed. If low-dose therapy is tried and has not stopped spasms within 2 weeks, the higher dose is used.

Corticosteroids (eg, oral prednisone) are sometimes given for 4 to 7 weeks as an alternative to ACTH. A regimen recommended by PERC uses oral prednisolone as follows:

Vigabatrin is the drug of choice when the spasms are caused by tuberous sclerosis complex Tuberous Sclerosis Complex (TSC) Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging... read more . It is also often used in children with an established preexisting serious brain injury or malformation and in those who do not tolerate or respond to ACTH. Dosage of oral vigabatrin is 25 mg/kg 2 times a day, increased gradually up to 75 mg/kg 2 times a day if needed. There is insufficient evidence that any other antiseizure drug or the ketogenic diet is effective.

In some patients with resistant spasms or with focal cortical malformation, epilepsy surgery can eliminate seizures.

There is evidence that the more quickly effective therapy is initiated, the better the neurodevelopmental outcome, particularly when no cause is identified.