Infantile Spasms Awareness
This page was created to raise awareness for Infantile Spasms. My name is Sarah Fields and two out of my three triplets have I.S. While one of my daughters have been successfully treated for I.S., the other has been trying to overcome this tragic epileptic disease for over a year now. Through our struggles, I decided that the more people are aware of this rare and horrible disease, the more children and their families can benefit from it. Knowledge is power.
Our main goal is to inform. When my girls were first diagnosed, it was hard to search the internet for facts about Infantile Spasms. I wanted to create a page where someone looking for information can come and get all the answers on one page.
Also, in creating this page, I wanted to make a place for parents, families, and doctors to come and see all of the ways I.S. can look. One thing about this disease is that it is hard to diagnose due to the lack of professionals who know about Infantile Spasms and all the many ways it can look. It is taking longer for children to be given the diagnosis and valuable time is being wasted.
Any suggestions for this site would be very much appreciated! If you want to have your child on the I.S. Families page, or want to give us a suggestion, please feel free to do so.
What is Infantile Spasms
Infantile Spasms
An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as Infantile Spasms or West Syndrome. Infantile Spasms is characterized by seizures, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months, but sometimes after 8 months. The seizures primarily consist of 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. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.
The spasms themselves only last a few seconds, usually only one or two seconds. Usually several spasms occur together in what is called a cluster. The infant usually appears to recover or relax between each spasm. There may only be a few spasms in a cluster or there may be many, even more than one hundred. Very occasionally, only one spasm will occur at a time. In between clusters of spasms many hours without spasms can occur. Occasionally more than a day will pass without a cluster of spasms.
Clusters of spasms often occur after waking from sleep, whatever time of the day. When an infant has a typical spasm, there are several movements. The head nods forward, the arms spread out and up and the legs may or may not lift up towards the abdomen. These movements may be accompanied by a little cry or the child may cry after the spasm. This movement lasts 1 - 2 seconds only. Any movement like this but lasting much longer - perhaps 10 or 20 seconds - is likely to be a tonic seizure and not an infantile spasm. The gap between each spasm in a cluster lasts for a variable length of time. This gap may only be a few seconds or may be a minute - or perhaps longer. Sometimes the gap between spasms gets closer as the cluster starts but then gets longer towards the end of the cluster.
Unfortunately, all infants with this condition have a high risk of having slow development after the spasms start. Some infants will stop having the spasms and will go on to develop normally. It is because of the risk of poor development that doctors like to start treatment as quickly as possible. We are not certain that starting treatment quickly will help to protect infants from poor development. We know that when the spasms stop quickly, the infant has a better chance of good development. But this isprobably because the “amount” of brain damage causing the spasms to appear is less in these infants - so it is easier to stop the spasms. There are some bits of information though which suggest that whatever the “amount” of brain damage, the quicker the spasms stop the better the infants development will be. There is no evidence that treatment must begin within hours or even within a few days of thinking the child has spasms, so there is time to get the EEG.
Treatment/Studies
Treatment and Studies
Many doctors will start treatment for I.S with ACTH or athcar gel injections although there are many courses of treatment out there. Since there is little know about what causes I.S, there is also little about what treatment works best. Another factor in treatment is that since everyone's case seems to be different in some way, different treatments work for some children and some don't.
ACTH
Corticotropin (Acthar, ACTH)A 2004 American Academy of Neurology and Child Neurology Society practice parameter concluded that (i) "ACTH is probably effective for the short-term treatment of infantile spasms and in resolution of hypsarrhythmia (Level B)" and(ii) "There is insufficient evidence to recommend the optimum dosage and duration of treatment with ACTH for the treatment of infantile spasms (Level U)."A 2004 multicenter, randomized, controlled trial in the UK compared hormonal therapy (either oral prednisolone or intramuscular tetracosactide depot, a synthetic analogue of ACTH) to vigabatrin in 107 infants with infantile spasms. More infants assigned hormonal treatments (73%) had no spasms on days 13 and 14 compared to infants assigned vigabatrin (54%, p=0.043). A follow-up study demonstrated that, although hormone treatment controlled spasms better than vigabatrin initially, by age 12-14 months, both groups had similar seizure-free rates. Older studies suggest ACTH's efficacy (percentage of infants with West syndrome reaching seizure freedom) is between 50% and 67%. Associated with serious, potentially life-threatening adverse effects. Must be administered IM, which is painful to infant and unpleasant for parent to perform.Daily dosages expressed as U/d (most common), U/m2/d, or U/kg/d.Prospective single-blind study demonstrated no difference in effectiveness of high-dose, long-duration corticotropin (150 U/m2/d for 3 wk, tapering over 9 wk) versus low-dose, short-duration corticotropin (20-30 U/d for 2-6 wk, tapering over 1 wk). With respect to spasm cessation and improvement in patient's EEG; hypertension was more common with larger doses.
Corticotropin (Acthar, ACTH)
A 2004 American Academy of Neurology and Child Neurology Society practice parameter concluded that (i) "ACTH is probably effective for the short-term treatment of infantile spasms and in resolution of hypsarrhythmia (Level B)" and
(ii) "There is insufficient evidence to recommend the optimum dosage and duration of treatment with ACTH for the treatment of infantile spasms (Level U)."
A 2004 multicenter, randomized, controlled trial in the UK compared hormonal therapy (either oral prednisolone or intramuscular tetracosactide depot, a synthetic analogue of ACTH) to vigabatrin in 107 infants with infantile spasms. More infants assigned hormonal treatments (73%) had no spasms on days 13 and 14 compared to infants assigned vigabatrin (54%, p=0.043). A follow-up study demonstrated that, although hormone treatment controlled spasms better than vigabatrin initially, by age 12-14 months, both groups had similar seizure-free rates. Older studies suggest ACTH's efficacy (percentage of infants with West syndrome reaching seizure freedom) is between 50% and 67%. Associated with serious, potentially life-threatening adverse effects. Must be administered IM, which is painful to infant and unpleasant for parent to perform.
Daily dosages expressed as U/d (most common), U/m2/d, or U/kg/d.
Prospective single-blind study demonstrated no difference in effectiveness of high-dose, long-duration corticotropin (150 U/m2/d for 3 wk, tapering over 9 wk) versus low-dose, short-duration corticotropin (20-30 U/d for 2-6 wk, tapering over 1 wk). With respect to spasm cessation and improvement in patient's EEG; hypertension was more common with larger doses.
Vigabatrin
A 2004 American Academy of Neurology and Child Neurology Society practice parameter concluded that (i) "Vigabatrin is possibly effective for short-term treatment of infantile spasms (Level C, Class III and IV evidence)." (ii) "Vigabatrin is also possibly effective for short-term treatment of infantile spasms in majority of children with tuberous sclerosis (Level C, Class III and IV evidence)." (iii) "Serious concerns about retinal toxicity in adults suggest that serial ophthalmologic screening is required in patients on vigabatrin. However, data are insufficient to make recommendations regarding the frequency or type of screening that would be of value in reducing the prevalence of this complication in children (Level U, Class IV studies)."Not approved by FDA in US, but available in many countries worldwide. Multiple studies (both open label and double blind) have reported some effectiveness in stopping seizures in infants with West syndrome, especially when caused by tuberous sclerosis.A 2004 multicenter, randomized, controlled trial in the UK compared hormonal therapy (either oral prednisolone or intramuscular tetracosactide depot, a synthetic analogue of ACTH) to vigabatrin in 107 infants with infantile spasms. More infants assigned hormonal treatments (73%) had no spasms on days 13 and 14 compared to infants assigned vigabatrin (54%, p=0.043). A follow-up study demonstrated that, although hormone treatment controlled spasms better than vigabatrin initially, by age 12-14 months, both groups had similar seizure-free rates.
A 2004 American Academy of Neurology and Child Neurology Society practice parameter concluded that (i) "Vigabatrin is possibly effective for short-term treatment of infantile spasms (Level C, Class III and IV evidence)." (ii) "Vigabatrin is also possibly effective for short-term treatment of infantile spasms in majority of children with tuberous sclerosis (Level C, Class III and IV evidence)." (iii) "Serious concerns about retinal toxicity in adults suggest that serial ophthalmologic screening is required in patients on vigabatrin. However, data are insufficient to make recommendations regarding the frequency or type of screening that would be of value in reducing the prevalence of this complication in children (Level U, Class IV studies)."
Not approved by FDA in US, but available in many countries worldwide. Multiple studies (both open label and double blind) have reported some effectiveness in stopping seizures in infants with West syndrome, especially when caused by tuberous sclerosis.
A 2004 multicenter, randomized, controlled trial in the UK compared hormonal therapy (either oral prednisolone or intramuscular tetracosactide depot, a synthetic analogue of ACTH) to vigabatrin in 107 infants with infantile spasms. More infants assigned hormonal treatments (73%) had no spasms on days 13 and 14 compared to infants assigned vigabatrin (54%, p=0.043). A follow-up study demonstrated that, although hormone treatment controlled spasms better than vigabatrin initially, by age 12-14 months, both groups had similar seizure-free rates.
The Ketogenic Diet
The keto diet is more than its title suggests - it is NOT a fad diet like lots of others out there. It is a medical therapeutic diet that is high in fat, low in protein and carbohydrate with calorie control. It MUST be run under the care of a qualified dietician in partnership with neurologists / medics. It has proven to be a highly effective diet in managing difficult to control epilepsies, aswell as metabolic disorders e.g. GLUT1 deficiency and SSPE - a rare complication of measles.
History-The diet was initiated in the USA in the 1920's With the advent of newer anti epileptic medication in the 30's-70's interest in the diet waned. The 1990's, however, saw a resurgeance in interest in the diet. In 1970 the MCT diet was introduced.
Forms of the Diet -Classical - where the diet uses "normal" foodstuff - lots of butter/oil/cream, meat/fish/eggs for protein and low carb type vegetables
MCT - Uses a medium chain trygliceride oil e.g. refined coconut oil - which enhances ketosis and allows more carbs. The MCT diet often has tolerance issues, and a modified MCT format is available.
Modified Atkins - not so restrictive on the protein allowance, but with a set amount of carbs per day.
The diet can be administered via bottle feed, normal food or gastrostomy/tube feed.
How the diet works -There is much debate in this area! The diet appears to "mimic starvation" by using fat as an alternative fuel source for the body, producing ketones. These ketones can then have an anti-convulsive effect on the body.
Hopes -The "Holy Grail" of keto is for a child to be initiated on the diet, become seizure free, be able to reduce/remove the anti-epileptic medication taken, wean the diet and STAY seizure free. This DOES happen, but there is also other degrees of success on the diet:
Reduction in number of / intensity of seizures
Reduction in drugs / side effects
Increased alertness
Improvement in behavioural problems
Improvement in learning ability
QUALITY OF LIFE!
Fears -The diet is perceived as challenging in the following areas:
The diet is difficult - Depends what you mean by difficult its difficult to watch your child seize. Its difficult to watch your child in a drugged up haze. Its difficult to feel that youve lost the child you had to the beast that is Epilepsy. Compared to these, spending time in the kitchen, actively involved in your childs care is a piece of cake! I dont want to belittle the amount of effort needed to calculate or administer the diet Initially you can feel like youre never out of the kitchen I just want to put this effort in context.
It is unpalatable - This diet is high fat, low protein, low carbohydrate so doesnt sound like its going to be very enjoyable for the child. Fortunately theres loads of good keto recipes out there our keto mums are very inventive blueberry muffins, omlettes, strawberry milkshakes, keto crackers and pizzas. Youll soon be a whizz at hiding oil and serving up some very tasty dishes.
It may not work That is true the diet doesnt work for everyone, but it has a substantially higher success rate for drug restistant epilepsies than anything else on offer.
The positive effects may not last I recently read that only rarely do the effects last more than 12 months - myself and many others can testify that this is often not the case the diet may need fine tuning as you go along, breakthrough seizures can be attacked by changing the ratio, the calories, the timing / size of meals / snacks, changing the diet format MCT/classical.
The Yahoo Ketogenic Group http://health.groups.yahoo.com/group/ketogenic/ is a very active / supportive forum and has lots of information in the "files" section. There is also a ketorecipes group: http://health.groups.yahoo.com/group/ketorecipes/
Other treatments
There are lots of other anti-epileptic drugs out there including Topamax, Depakote, Lamictal, Keppra, Zonegran, B6, Prednisone, Felbatol, Ganaxolone, and many others. There is also the Ketogenic Diet, Acupuncture, and other homeopathic treatments available.
Helpful Links
http://www.epilepsyfoundation.org/about/types/syndromes/infantilespasms.cfm
http://www.epilepsy.com/epilepsy/epilepsy_infantilespasms
http://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm
http://www.infantilespasms.com/forum
http://www.marissasbunny.com
http://www.childneurologysociety.org
I.S. Families
This page is dedicated to all of the children suffering from Infantile Spasms. Every child seems to show the signs of I.S. differently. We feel that if others were shown just how different each child's spasms can look, then more people and more doctors would be aware.
Here are some videos of children having different types of spasms.
Ayva
FDA approves first drug for infantile spasms
August 22, 2009 | 4:50 pm
The Food and Drug Administration on Friday approved the first drug for treating infantile spasms, a rare and devastating disease that wracks infants with hundreds of spasms every day, interferes with neurological development and kills as many as 20% of victims.
The approval of the drug, called Sabril, represents the end of a 15-year odyssey for Dr. W. Donald Shields, a pediatric neurologist at UCLA's Geffen School of Medicine, who pioneered studies of the drug in the U.S.
"I can't tell you how excited I was yesterday when I found out" the drug was approved, he said today. "This is a drug we really need to have."
The drug, known generically as vigabatrin, is not perfect...
To read more go to http://latimesblogs.latimes.com/booster_shots/2009/08/fda-approves-first-drug-for-infantile-spasms.html
A registry has been created to track children with Infantile Spasms
This is a research project by a group of doctors who wish to collect as much information as possible about the causes, treatments, and outcomes of infantile spasms. Our goal is to improve the care for children with infantile spasms. By studying large numbers of children with this disorder we hope to make much-needed progress in treatment.
https://infantilespasms.wustl.edu/
Welcome to the Infantile Spasms
Awareness Homepage
This page was designed to help spread the awareness of I.S. It was made so families and those affected by this disease can find information, support, and knowledge about I.S., treatment, and so that we can help others by simply making more people aware of this devestating disease.
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