What is the most appropriate treatment for an 8-month-old boy with infantile spasms, hypsarrhythmia on electroencephalography (EEG), and developmental delays, including inability to roll and lack of speech-like sounds?

From the Guidelines

The most appropriate treatment for this 8-month-old boy with infantile spasms, hypsarrhythmia on EEG, and developmental delays is vigabatrin, given its effectiveness in treating infantile spasms, particularly those related to tuberous sclerosis complex, as noted in the study by the vigabatrin paediatric advisory group 1. The treatment should be initiated urgently to prevent further developmental delays. Vigabatrin is dosed at 50-150 mg/kg/day divided twice daily. It is crucial to monitor the child's response to treatment and adjust the dosage as needed. EEG monitoring should be performed 2 weeks after treatment initiation to assess response, with the goal of eliminating both clinical spasms and hypsarrhythmia. Some key points to consider in the treatment of infantile spasms include:

• The importance of early intervention to improve neurodevelopmental outcomes
• The need for regular monitoring of the child's condition, including EEG and developmental assessments
• The potential side effects of vigabatrin, including visual field defects, and the need for regular ophthalmologic monitoring
• The consideration of other treatment options, such as hormonal therapy with adrenocorticotropic hormone (ACTH) or high-dose oral prednisolone, if vigabatrin is not effective or tolerated. However, according to the most recent and highest quality evidence available, vigabatrin remains the drug of choice for infantile spasms 1. Additionally, the child's developmental delays should be addressed through early intervention and special education programs, as recommended by the American Heart Association 1 and the American Academy of Pediatrics 1. These programs can provide the child with the necessary support and services to improve their developmental outcomes. Overall, the treatment of infantile spasms requires a comprehensive approach that addresses both the child's medical and developmental needs.

From the FDA Drug Label

The effectiveness of Acthar Gel as a treatment for infantile spasms was demonstrated in a single blinded (video EEG interpreter blinded) clinical trial in which patients were randomized to receive either a 2-week course of treatment with Acthar Gel (75 U/m2 intramuscular twice daily) or prednisone (1 mg/kg by mouth twice daily) The primary outcome was a comparison of the number of patients in each group who were treatment responders, defined as a patient having complete suppression of both clinical spasms and hypsarrhythmia on a full sleep cycle video EEG performed 2 weeks following treatment initiation, rated by an investigator blinded to treatment. Thirteen of 15 patients (86. 7%) responded to Acthar Gel as compared to 4 of 14 patients (28.6%) given prednisone (p<0.002).

The most appropriate treatment for this child’s disease process is Acthar Gel (adrenocorticotropic hormone), administered at a dose of 75 U/m2 intramuscular twice daily for 2 weeks, as it has been shown to be effective in treating infantile spasms with a significant response rate of 86.7% compared to prednisone 2.

• Key points:
  • Acthar Gel is effective in treating infantile spasms
  • The recommended dose is 75 U/m2 intramuscular twice daily for 2 weeks
  • The treatment has been shown to have a significant response rate of 86.7% compared to prednisone
  • It is essential to carefully monitor the patient while on and during titration from Acthar Gel treatment.

From the Research

Treatment Options for Infantile Spasms

The most appropriate treatment for an 8-month-old boy with infantile spasms, hypsarrhythmia on electroencephalography (EEG), and developmental delays, including inability to roll and lack of speech-like sounds, is a topic of ongoing research and debate.

• Current first-line treatment options include:
  • Corticosteroids, either adrenocorticotrophic hormone (ACTH) or prednisolone 3
  • Vigabatrin, particularly when the underlying cause is tuberous sclerosis complex (TSC) 3
• Emerging evidence suggests that a combination of steroid and vigabatrin may be more effective in the suppression of spasms and resolution of hypsarrhythmia 3
• Other anti-epileptic drugs (AEDs) such as levetiracetam, nitrazepam, sodium valproate, topiramate, and zonisamide are usually used as add-on or adjunctive treatment in refractory cases 3, 4
• Pyridoxine (or pyridoxal phosphate) and the ketogenic diet are established treatment options in refractory cases 3, 4

Response to Treatment

• The response to adrenocorticotropic hormone (ACTH) is often determined early in the treatment course, with most patients responding within two weeks of treatment initiation 5
• If infantile spasms do not resolve within two weeks of ACTH initiation, clinicians should consider adding or changing treatment 5

Ongoing Research and Future Directions

• Research is ongoing into the efficacy of novel treatment options, including rapamycin and neuro-active steroids such as ganaxolone 3, 6
• Emerging insights from clinical and basic science perspectives are helping to improve understanding and treatment of infantile spasms 7, 6