TY - JOUR
T1 - Treatment of infantile spasms
T2 - why do we know so little?
AU - Specchio, Nicola
AU - Pietrafusa, Nicola
AU - Ferretti, Alessandro
AU - De Palma, Luca
AU - Santarone, Marta Elena
AU - Pepi, Chiara
AU - Trivisano, Marina
AU - Vigevano, Federico
AU - Curatolo, Paolo
N1 - Funding Information:
N Specchio has received funding from Biomarin and Livanova. N Pietrafusa and F Vigevano have recieved funding from Zogenix, Biomarin, and P Curatolo has received funding from Novartis. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or conflict with the subject matter or materials discussed in this manuscript apart from those disclosed.
Publisher Copyright:
© 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2020/6/2
Y1 - 2020/6/2
N2 - 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.
AB - 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.
KW - ACTH
KW - animal models
KW - epileptic spasms
KW - Infantile spasms
KW - malformation of cortical development
KW - outcome
KW - prednisone
KW - treatment
KW - tuberous sclerosis complex
KW - vigabatrin
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U2 - 10.1080/14737175.2020.1759423
DO - 10.1080/14737175.2020.1759423
M3 - Review article
C2 - 32316776
AN - SCOPUS:85087177111
VL - 20
SP - 551
EP - 566
JO - Expert Review of Neurotherapeutics
JF - Expert Review of Neurotherapeutics
SN - 1473-7175
IS - 6
ER -