Ocurring in about 2 in 10,000 births, infantile spasms are a type of cluster seizure that affects infants and children. Infantile spasms have occurred at birth and in children up to 5 years of age, but is uncommon. It mainly occurs in infants between the ages of 3 and 7 months and affects boys more often than girls.
There are several caues of infantile sezures, these include;
- Birth injury
- Metabolic disorders
- Genetic disorders
In approximately 20% of children, no underlying cause can be found. Due to ongoing seizure activity, there is a high risk of developmental delays and cognitive problems.
Because infantile spasms are so rare, they are often mistaken for other disorders, such as:
- Sandifier syndrome
- Benign myoclonus epilepsy (seizures in infancy)
- Hyperekplexia (an exagerated startle response)
- Gastroesophageal reflux
- Breath-holding spells
A confirmation diagnosis of infantile spasms is commonly based on a physical examination and an EEG (Electroencephalogram).
Vigabatrin is typically used as the first-line treatment. Corticoidsteroids are used as a second-line treatment when vigabatrin fails. Low-dose adrenocorticotropic hormone has been shown to be as effective as corticoidsteroids. Surgery may also be an option, but it depends on the cause of the spasms.
Early control of seizures is critical to reduce developmental delays and long-term cognitive problems.
Before initiating any therapy, parents and caregivers of children with infantile spasms should consult with a board-certified neurologist who specializes in neuromuscular diseases.
Catalyst Pharmaceuticals has an ongoing clinical trial into a gamma-aminobutyric acid aminotransferase (GABA-AT) inhibitor for infantile spasms.
- Orphanet. West syndrome. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=894&Disease_Disease_Search_diseaseGroup=West-Syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=West-syndrome&title=West-syndrome&search=Disease_Search_Simple. Updated March 2007. Acessed December 14, 2017.
- Go CY, Mackay MT, Weiss SK, et al.; Child Neurology Society; American Academy of Neurology
Evidence-based guideline update: medical treatment of infantile spasms. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2012;78(24): 1974-1980.
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