An etiologic diagnosis is very important because it can lead to initiation of a specific therapy that may markedly improve the long-term developmental outcome. In fact, some children with infantile spasms may ultimately lead normal lives, but only if they are diagnosed and treated correctly.
What happens if infantile spasms are left untreated?
Left untreated, infantile spasms can lead to serious outcomes, including an estimated infant mortality rate of between 5% and 6%. The most significant concern, however, is that infantile spasms are associated with autism and intellectual deficits that permanently affect quality of life.
How long do babies with infantile spasms live?
West syndrome (also called infantile spasms) should go away by the time your child is 4 years old. But most people will develop another kind of epilepsy or seizure condition in childhood or as an adult.
Do infantile spasms cause mental retardation?
Infantile spasms (IS), i.e., West syndrome, as an epileptic encephalopathy, represents one of the major causes of acquired mental retardation in early childhood (Roger and Dulac, 1994).
Is infantile spasm curable?
Many children with infantile spasms develop other kinds of epilepsy. (Watch examples of infantile spasms.) “Some of these children can be cured, but successful treatment often depends on prompt diagnosis,” said Hussain.
Do infantile spasms cause brain damage?
Infantile spasms is a complex and rare disorder that can have very serious consequences. It can lead to death in some babies, and cause intellectual disabilities and developmental problems in others. Even once the seizures are gone, the damaging brain effects can remain.
Can you grow out of infantile spasms?
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 IS, making it important to identify the underlying cause.
Do infantile spasms always show up on EEG?
Infantile spasms are a very specific type of seizure with a characteristic age of onset (a typical age when seizures start). They are nearly always accompanied by a very characteristic pattern on the electroencephalogram (EEG).
What do I do if my baby has infantile spasms?
Early diagnosis is key
It is very important that infantile spasms are diagnosed early. If you suspect your baby may be having infantile spasms, talk to your pediatrician right away. Your child may need to be seen by a pediatric neurologist.
Do infantile spasms happen every day?
Though there is almost always a cluster of spasms in the morning when the child awakens from sleep, infantile spasms can occur at any time during the day or night.
Is infantile spasms rare disease?
A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy.
How early do infantile spasms start?
Infantile spasms most often begin between 4 and 7 months, but can start any time in the first few years of life. Later onset spasms may also occur but are rare.
What can be mistaken for infantile spasms?
Infantile spasms are caused by a condition in a baby’s brain and include repetitive, but often subtle movements—such as jerking of the mid-section, dropping of the head, raising of the arms or wide-eyed blinks. IS can be misdiagnosed as colic, reflux, or a startle reflex.
Why do babies get infantile spasms?
Infantile spasms (also called West syndrome) can be caused by problems with the way the brain developed in the womb, infections, brain injury, or abnormal blood vessels in the brain (such as an arteriovenous malformations). Infantile spasms also can happen in babies with some types of metabolic and genetic disorders.
Is infantile spasms genetic?
Infantile spams is genetically heterogeneous; variants in the majority of genes account for only a small number of cases. De novo variants in TBL1XR1 and KIF1A can cause infantile spasms. Larger cohorts or the use of online tools to connect researchers are needed to identify additional genetic causes of IS.
How does ACTH help infantile spasms?
ACTH stimulates part of the brain to release other hormones. In infantile spasms, the ACTH is injected into a muscle with an IV needle. Moderate evidence shows short-term use of ACTH may help treat infantile spasms. Moderate evidence shows that a low dose of ACTH can be as effective as higher doses.
What genetic disorders cause infantile spasms?
In addition to the genetic mutations in TSC1 and TSC2, which cause tuberous sclerosis, specific genetic defects have been identified in many patients with early onset of infantile spasms, including mutations in the gene ARX on the short arm of chromosome X, which is associated with a wide variety of structural brain …
Do infantile spasms occur while sleeping?
Infantile spasms often occur when a child is falling asleep or waking up. The child’s body may suddenly jerk, flex or extend. Sometimes, the arms are flung out, the knees are pulled up and the body bends forward. Less often, the head can be thrown back while the body and legs stiffen to a straight position.
What is the difference between spasms and seizures?
The spasms cause jerky motions that generally last a minute or two. Convulsions can occur during certain kinds of epileptic seizures, but you can have convulsions even though you don’t have epilepsy.
What is the difference between infantile spasms and seizures?
An infantile spasm is a seizure with sudden stiffening of the body and brief bending forward or backward of the arms, legs and head. Each seizure lasts only a second or two and usually in a series. Seizures are most common just after waking up and rarely occur during sleep.
Is infantile spasms and West syndrome the same thing?
Infantile spasms (IS) are a type of seizure that is linked to an epileptic condition known as West syndrome. West syndrome affects infants and children. Infantile spasms are linked to mental delays.
Is West syndrome curable?
There is no cure for West syndrome, so unfortunately, the only treatment is to reduce symptoms. West syndrome treatments usually include a course of prednisolone and/or an anti-epileptic medication. In a few individuals, surgery in the brain may help reduce symptoms.
What does West Syndrome look like?
West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.