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 GABA(B)receptors and increase of Ca(2+)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.

Treatment of infantile spasms. why do we know so little? / Specchio, Nicola; Pietrafusa, Nicola; Ferretti, Alessandro; De Palma, Luca; Santarone, Marta Elena; Pepi, Chiara; Trivisano, Marina; Vigevano, Federico; Curatolo, Paolo. - In: EXPERT REVIEW OF NEUROTHERAPEUTICS. - ISSN 1473-7175. - 20:6(2020), pp. 551-566. [10.1080/14737175.2020.1759423]

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

Ferretti, Alessandro;De Palma, Luca;Curatolo, Paolo
2020

Abstract

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 GABA(B)receptors and increase of Ca(2+)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.
2020
acth; infantile spasms; animal models; epileptic spasms; malformation of cortical development; outcome; prednisone; treatment; tuberous sclerosis complex; vigabatrin
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Treatment of infantile spasms. why do we know so little? / Specchio, Nicola; Pietrafusa, Nicola; Ferretti, Alessandro; De Palma, Luca; Santarone, Marta Elena; Pepi, Chiara; Trivisano, Marina; Vigevano, Federico; Curatolo, Paolo. - In: EXPERT REVIEW OF NEUROTHERAPEUTICS. - ISSN 1473-7175. - 20:6(2020), pp. 551-566. [10.1080/14737175.2020.1759423]
File allegati a questo prodotto
File Dimensione Formato  
Specchio_Treatment-of infantile-spasms_2020.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 12.24 MB
Formato Adobe PDF
12.24 MB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1677845
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 18
  • ???jsp.display-item.citation.isi??? 15
social impact