Infantile Spasms feature article-child epileptologist, Dr. Adenike Opaleke
In this issue we sat down with Dr. Adenike Opaleke, child neurologist and epileptologist of the Northeast Regional Epilepsy Group who sees patients in our epilepsy hospital unit and outpatient offices in Summit, NJ. Dr. Opaleke is originally from Nigeria. She completed her Pediatrics Residency at Lincoln Hospital and Medical Center in New York City, her Neurology Fellowship at the State University of New York and her Neurophysiology Fellowship at Emory University in Georgia. She is Board Certified in Pediatrics, Child Neurology and Neurophysiology. Her research interests are in pediatric neurology and the effect of hormones on epilepsy.
We asked her to tell us about a serious seizure condition that affects some babies called infantile spasms. She explained it to us including how parents might recognize these seizures and how the epilepsy doctor might diagnose them, how common it is, how it is treated by epileptologists and what to expect from the treatment.
1) What are infantile spasms/how would you know a child is having one? How are they different from other seizures?
They differ from other types of epileptic seizures because they have a very particular presentation. What a parent might see when their infant is having a spasm would be: a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. This is sometimes described as a “knife jerk” or “salaam attack” and may be accompanied by a cry.
Spasms tend to occur upon awakening or after feeding, rarely during sleep, and often occur in clusters of up to 100 spasms at times. The onset is typically before the age of one year (range 4-8 months). The diagnosis is best made by a trained physician with the help of seizure description by the parents (it can be very helpful if parents bring in a homemade video recording of the spasm) and brain wave activity recording (video EEG). The EEG will show the physician characteristic EEG finding described as hypsarrhythmia which allows the diagnosis to be made.
2) How common are infantile spasms among infants?
It is actually a pretty uncommon condition occurring in about 1 of every 2000 babies but when it occurs it requires medical treatment as soon as possible which is why it is good for parents to be observant.
3) Are there specific epilepsy syndromes associated to infantile spasms?
Unfortunately, very often there are no known causes for this rare epileptic condition. However, infantile spasms can be associated with brain malformations, chromosomal disorders, birth related injuries, infections, and vitamin deficiency to name a few. Tuberous sclerosis, a multi-organ disorder with malformations in the brain and hypopigmented skin lesion with a known genetic/chromosomal association can also present with infantile spasms.
4) How are infantile spasms treated?
The recommended treatment involves acute short term treatment with ACTH or Vigabatrim. Your doctor may put the baby on a seizure medication such as Topamax especially when there are other seizure types along with the infantile spasms.
5) What is the prognosis for infantile spasms?
The prognosis for the child’s neurological development and the child’s cognition (intelligence and thinking skills) in children with infantile spasms will depend on the underlying cause. Those with an underlying brain disorder are going to be at a higher risk of moderate to severe mental retardation. Only about 10-20% may enjoy normal development especially if development was normal prior to developing infantile spasms. The good news is that the majority of infantile spasms usually improve with treatment. However, relapse after the initial treatment is not unusual, hence the same patient may require more than one treatment course. Over half of the patients will develop other types of seizures and may progress to Lennox-Gastaut Syndrome, a serious epileptic disorder of later childhood.
6) What would parents need to know to help their infant if he/she is having infantile spasms?
The parents are very important in recognizing early that their baby’s movements are atypical and recognize the loss of achieved developmental milestones (i.e. loss of motor or thinking skills) which represents a regression. It is important that the symptoms are brought to the attention of physician as soon as possible. It is not uncommon for parents and even medical staff who are not familiar with epilepsy to mistake the infantile spasms with colic, a feeding disturbance or a sleep disturbance until an EEG is finally done and shows the presence of infantile spasms. The child neurologist will be able to provide more information and resources to help patients and caregivers make the best treatment choices.
Once the diagnosis is made, the baby may need series of tests to find out the underlying cause of the infantile spasm and may require hospital admission for the tests and to initiate treatment.
When the baby is finally discharged the parents may have to give injections for the short term ACTH treatment or administer oral medication such as Vigabatrin and Topamax. The parents will have to watch for medication side effects and monitor the spasms by keeping a diary. It is important the baby does not miss medication doses and doctor appointments.
7) Is there any research being conducted to further our knowledge about infantile spasms?
Research is being conducted in the areas of treatment to determine the most effective ways to help these babies with their infantile spasms. Research is also being conducted to better understand the underlying etiology (cause) of infantile spasms. However, because this condition is so rare and because the patients are so very young sometimes it is very hard to enroll patients for research.
