Treatment of infantile spasms: why do we know so little?

Nicola Specchio, Nicola Pietrafusa, Alessandro Ferretti, Luca De Palma, Marta Elena Santarone, Chiara Pepi, Marina Trivisano, Federico Vigevano, Paolo Curatolo

Research output: Contribution to journalReview articlepeer-review


Introduction: Infantile spasm (IS) is an epileptic syndrome with typical onset within the first 2 years of life. This condition might be caused by several etiologies. IS is associated with pathological neuronal networks; however, definite hypotheses on neurobiological processes are awaited. Areas covered: Changes in NMDA and GABAB receptors and increase of Ca2+ conductance are some of the possible pathophysiological mechanisms. Animal models can help, but most have only some features of IS. Outcome is strongly affected by etiology and the timing of treatment, which relies still on ACTH, oral steroids, and vigabatrin. No significant differences in terms of efficacy have been documented, though a combination of ACTH and vigabatrin seems to be associated with better long-term outcomes. Despite the increasing knowledge about the etiology and pathophysiology of IS, in the last years, no new treatment approaches have been recognized to be able to modify the neurobiological process underlying IS. Precision medicine has far to come in IS. Expert opinion: Recently, no new therapeutic options for IS have emerged, probably due to the lack of reliable animal models and to the extreme variability in etiologies. Consequently, the outlook for patients and families is poor and early recognition and intervention remain research priorities.

Original languageEnglish
Pages (from-to)551-566
Number of pages16
JournalExpert Review of Neurotherapeutics
Issue number6
Publication statusPublished - Jun 2 2020


  • ACTH
  • animal models
  • epileptic spasms
  • Infantile spasms
  • malformation of cortical development
  • outcome
  • prednisone
  • treatment
  • tuberous sclerosis complex
  • vigabatrin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Pharmacology (medical)


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