What Do Infantile Spasms Look Like – Often referred to as small seizures with big consequences, infantile spasms (IS) are subtle seizures that occur in the first year of a baby’s life – the period when brain development is most critical.
Infantile spasm (IS) is a rare and particularly severe epilepsy syndrome that usually begins within the first year of life. Infantile spasms are characterized by subtle seizures that can have major neurological effects and an atypical EEG pattern; these symptoms can lead to severe developmental delay and cognitive and physical deterioration. Because these spasms do not look like traditional seizures, it can be difficult for primary care physicians and pediatricians to diagnose IS.
What Do Infantile Spasms Look Like
This often means that effective treatment for affected children is delayed, which can have dire consequences. And for those who are correctly diagnosed, many do not respond to treatment or have adverse side effects.
Is My Baby Having Infantile Spasms?
The video below helps you understand the signs to look for in a baby you believe has infantile colic.
Infantile spasm is a rare epileptic disorder that most often occurs within the first year of life. The first symptoms usually noticed are physical convulsions, which may appear as brief, simultaneous movements of the head, trunk, and limbs, or may be more subtle “nodding.” Children with infantile spasms also usually show developmental delay or deterioration, which may become apparent after the first symptoms appear. In addition, children with infantile spasms often have an abnormal EEG characterized by hypsarrhythmia, which is a disorganized pattern of brain activity.
Infantile spasms are also known as West syndrome, according to Dr. W.J. West, who first described symptoms of “infantile convulsions” in his own son in 1841 (West, Lancet, 1841).
Infantile spasms can be subtle or obvious. In the most subtle cases, these seizures may take the form of a slight head drop or other type of involuntary movement. They may also look like the classic Moro reflex, in which the infant extends both arms at the same time. Other infantile spasms may involve the infant simultaneously extending or jerking the arms, legs, and neck. These spasms may occur as a single event or may occur in groups of several spasms. They often occur in the morning or after the child wakes up from sleep.
Help Stop Infantile Spasms
There are many different possible causes of infantile spasms, including malformations of brain structures, genetic abnormalities, infections, trauma, or tumors.
Infantile spasms are more common in individuals with certain underlying disorders: for example, infantile spasms occur in 30 to 50% of children with tuberous sclerosis,
A rare genetic disorder. In some cases, infantile spasms occur without any identifiable underlying cause (called cryptogenic infantile spasms), while in other cases there is a clear underlying cause for the seizures (called symptomatic infantile spasms).
If you suspect your child has infantile spasms, one of the most important things you can do is record one or more episodes to show your child’s doctor. You may want to compare your child’s behavior with that of children diagnosed with infantile spasms, which you can do by watching videos of children with infantile spasms online. Many of these videos can be found by searching for “infantile spasms” on YouTube or viewing the collection of videos available on the Infantile Spasms Project website.
From Seizures And Infantile Spasms To Free, Clear And Thriving
If you suspect your child has infantile spasms, record a video to show to a pediatrician or neurologist and have your child evaluated. Infantile spasms can be subtle and are often mistaken for other conditions, but it’s important to get a diagnosis as soon as possible – so follow your instincts if you think something’s wrong.
This helpful mnemonic tool developed by the Infantile Spasms Action Network (to which CURE belongs) can help you understand what to do if you suspect infantile spasms:
Diagnosis will usually first consist of a physical examination to determine if cramping can be seen. Because seizures may not appear while the child is in the doctor’s office or may be very subtle, it is helpful to bring a video of the suspected episode to show the doctor.
Age is also taken into account in the diagnosis, because infantile spasms most often appear within the first year of life, often between 4 and 8 months (although they can also appear later).
A Triplet Repeat Expansion Genetic Mouse Model Of Infantile Spasms Syndrome, Arx(gcg)10+7, With Interneuronopathy, Spasms In Infancy, Persistent Seizures, And Adult Cognitive And Behavioral Impairment
EEG is an important part of diagnosis. The most common EEG pattern associated with infantile spasms is a hypsarrhythmia, which appears as very large, disorganized, and chaotic brain waves.
Currently, the two most effective treatments for infantile spasms are adrenocorticotropic hormone (ACTH), a hormone produced by the body, and Vigabatrin, an anti-seizure medication.
There are numerous other hormonal therapies and medications that are sometimes used to treat infantile spasms, and in certain cases surgery is recommended.
The American Academy of Neurology (AAN) and the Society of Pediatric Neurology have created a fact sheet that provides more information about treatment options for infantile spasms. It is important to weigh the pros and cons of each treatment method. Your doctor can help you develop a treatment strategy that is right for your child.
Cure Epilepsy Infantile Spasms Initiative For Research
In most studies, the number of reported cases of infantile colic falls in the range of 2 to 4.2 children per 10,000 live births per year.
There are some genetic links to infantile spasms. Mutations, deletions or abnormalities in certain genes are associated with infantile spasms. These gene abnormalities associated with infantile spasms can lead to many different possible changes in the brain depending on the gene involved – changes such as brain malformations, errors in metabolism, changes in brain excitability, or other genetic disorders (such as tuberous sclerosis).
Importantly, there is still much to learn about the underlying mechanisms of infantile spasms. Therefore, continuous research into the underlying causes of infantile spasms is necessary.
Infantile Spasms Project: A UCLA-based program designed to guide parents and caregivers of children with infantile spasms, as well as practitioners, in a simple way.
Infantile Spasms Infographic
Children’s Neurology Foundation: An organization that provides support and education to caregivers and children with neurological conditions, including promoting awareness of infantile spasms and providing information on the Infantile Spasms Action Network.
Tuberous Sclerosis Alliance: An organization dedicated to supporting tuberous sclerosis research and providing education and support to individuals and families affected by the disorder.
Research into basic biological mechanisms is the basis of progress in the field of epilepsy. For 25 years, CURE Epilepsy has funded work like the Infantile Spasms (IS) Initiative to increase fundamental knowledge and move us closer to a cure for epilepsy.
Standard treatments for IS only work in 50% of patients and can have serious side effects. The need for additional effective therapies has driven Dr. Swann and his team to investigate more effective treatment with fewer or, ideally, no side effects.
The Relation Of Infantile Spasms, Tubers, And Intelligence In Tuberous Sclerosis Complex
May 19, 2022 Pioneering study reveals underlying cause of infantile spasms and points to new therapy
Featuring research from former CURE Epilepsy recipient Dr. John Swann. This exciting study, published in the Annals of Neurology, has the potential to change the landscape of treatment for babies with infantile spasms.MINNEAPOLIS, Nov. 30, 2017 /-USNewswire/ — From December 1-7, 2017, a coalition of organizations known as Infantile Spasms Action Network (ISAN) will mark Infantile Spasms Awareness Week (ISAW). ISAW’s goal is to increase awareness and understanding of infantile spasms through the distribution of objective educational materials to providers, caregivers, and the public; announcement of new and useful research and support initiatives; recognition for exemplary contribution to care; and a statement to patients and caregivers that help is available and that there is hope.
Infantile spasms (IS) affect newborns before the first year, and in some children up to the second year. IS affects more than 1,200 infants a year in the United States. Although rare, these seizures can cause long-term damage to a child’s developing brain. Infantile spasms are characterized by repetitive but often subtle movements – such as jerking of the midsection, raising the arms similar to a startle reflex, nodding the head, or blinking with wide eyes. IS can occur in clusters, dozens at a time, and in some cases can lead to hundreds of attacks per day if left untreated. IS can result in an increased risk of developmental delay, lifelong intractable epilepsy, autism, and even death. Fortunately, there are treatments available to help control cramps. Prompt recognition and treatment of IS is critical, but IS often has a subtle appearance, so it can be difficult for parents to recognize it as a serious problem.
“Most pediatricians will see only one or two cases of IS during their careers. Couple that with the potential for severe developmental delays in untreated infants, and the need for providers, caregivers, and the public to be aware of the urgency of IS, its diagnosis, and treatment are becoming key priorities in the pediatric neurology community,” said Amy Brin Miller, executive director of the Children’s Neurology Foundation, ISAN’s umbrella organization.
Main Cognitive Outcome Of Infantile Spasms: Are We Making A Difference?
ISAW 2017 is hosting a variety of events and initiatives including social media campaigns for parents and the general public, national and local media interviews, physician awareness projects, and activities at the American Epilepsy Society Annual Meeting in Washington, DC.
Members of the Infantil
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