Infantile Spasms

Department of Neurology, The John M. Freeman Pediatric Epilepsy Center, The Johns Hopkins Hospital, Baltimore, MD 21287, USA.
The Neurologist (Impact Factor: 1.16). 03/2010; 16(2):69-75. DOI: 10.1097/NRL.0b013e3181d1416c
Source: PubMed


Infantile spasms (West syndrome) is an epilepsy condition affecting 1 in 2000 infants. Perhaps no more worrisome neurologic disorder exists because of its frequent association with delayed development and cognition at such a young age. Despite its existence in the literature since 1841, proven therapies are limited because of efficacy, tolerability, at times even availability.
In this review, the clinical features, electroencephalogram (EEG) findings (hypsarrhythmia), prognostic factors, and myriad of treatment options for this condition will be discussed. Guidelines, surveys, and practice parameters have judged adrenocorticotropin hormone and vigabatrin to be the most proven treatments, with the latter indicated for tuberous sclerosis. However, potentially helpful therapies with fewer side effects have recently emerged including high-dose oral prednisolone, ketogenic diet, and topiramate. Additionally, advances in the past several years include the creation of viable animal models for testing new treatments.
At no other time since its first description in 1841 has the field of infantile spasms research been so rapidly changing. For the thousands of infants faced with this potentially devastating disorder, there is no time like the present.

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    • "Infantile spasms (IS) constitute a unique, age-specific epileptic syndrome that occurs during early infancy. IS are characterized by the triad of myoclonic spasms, hypsarrhythmic electroencephalogram , and arrest of psychomotor development (Kossoff, 2010). The pathophysiology of IS remains unclear. "
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    ABSTRACT: To test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS). Nine single nucleotide polymorphisms (SNPs) within the NR3C1 gene were genotyped in a sample set of 128 cases and 131 controls. Association analysis was performed on the genotyped data. Two SNPs, rs10482672 and rs2963155, showed nominal associations with IS (P=0.018, OR=1.89, 95% CI=1.11-3.22, for rs10482672; P=0.04, OR=1.70, 95% CI=1.03-2.81 for rs2963155) under the assumption of a dominant model. The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60). The rs6866893 was also associated with the responsiveness of adrenocorticotropic hormone. The current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population.
    Full-text · Article · Jun 2012 · Life sciences
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    • "It is recommended that patients undergo MRI evaluation prior to the start of ACTH as transient abnormalities approximating brain atrophy may occur.26 Many ACTH side-effects are dose and duration dependent, and for this reason the drug is typically tapered off within several weeks of a positive response.27 However, unlike some side-effects associated with vigabatrin, hormone-related side-effects tend to be transient, and resolve with drug discontinuation. "
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    ABSTRACT: In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile spasms. The available data have demonstrated that vigabatrin is efficacious in the treatment of infantile spasms regardless of underlying etiology, but that it is particularly beneficial in patients with a diagnosis of tuberous sclerosis. Adrenocorticotropic hormone (ACTH), the only other medication with robust efficacy data, has been used as first line therapy for infantile spasms associated with other etiologies, and in general controls spasms sooner than vigabatrin, though relapse is common with both therapies. Vigabatrin is generally well tolerated. However, use has been associated with permanent loss of peripheral vision in some patients. In children with tuberous sclerosis, vigabatrin should be considered as initial therapy for infantile spasms. It is a viable alternative for patients with suboptimal response, contraindications or intolerance to ACTH.
    Full-text · Article · Sep 2011
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    • "The ketogenic diet (KD) is a nonpharmacologic treatment for childhood epilepsy not amenable to drugs (Stafstrom & Rho, 2004; Freeman et al., 2007) that mimics the biochemical response to starvation, when ketone bodies, rather then glucose, become the main fuel for the brain energy demand. In the past decade, interest in ketogenic diet spread worldwide (Kossoff & McGrogan, 2005; Lord & Magrath, 2010; Neal & Cross, 2010). At present, two works based on national research, one in Germany (Klepper et al., 2004) and one in the United States (Kossoff et al., 2008b) provide international guidelines to ensure a correct management of the KD. "
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    ABSTRACT: Ketogenic diet is a nonpharmacologic treatment for childhood epilepsy not amenable to drugs. At the present time, two works based on national research, one in Germany and one in the United States provide international guidelines to ensure a correct management of the ketogenic diet. Our Italian collaborative study group was set up in order to formulate a consensus statement regarding the clinical management of the ketogenic diet, patient selection, pre-ketogenic diet, counseling, setting and enforcement of dietary induction of ketosis, follow-up management, and eventual discontinuation of the diet.
    Full-text · Article · Apr 2011 · Epilepsia
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