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Infantile Spasms: Pharmacotherapy Challenges

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NeuroPsychopharmacotherapy

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Abstract

Infantile spasms (IS, epileptic spasms during infancy) represent a unique entity among epilepsy syndromes. Both its clinical picture (brief spastic seizures) and electrographic signature (EEG suppression during the spasms and chaotic pattern of large-amplitude asynchronous waves = hypsarrhythmia in between the spasms) emphasize a special status of this epilepsy syndrome. The syndrome most often develops in infants between 3–12 months of age and is frequently associated with developmental arrest or even regress (West syndrome). In addition to the peculiar electroclinical syndrome, the treatments of infantile spasms are also dissimilar to treatments of other epilepsy syndromes. First-line treatments include adrenocorticotropin, corticosteroids, and vigabatrin. However, long-term efficacy of either of these treatments does not exceed 55% and all of them have serious adverse effects. Thus, new approaches (using the old drugs) or novel treatments are investigated. Recently a combination of hormonal treatments with vigabatrin has been shown to be more effective than either of its components. Second-line treatments such as topiramate, ketogenic diet, pyridoxin, zonisamide, valproate, cannabidiol, mTOR inhibitors, clobazam, and felbamate expand the therapeutic armamentarium, however there is insufficient evidence that they are as effective as standard treatments. Experimental treatment approaches aim to eliminate adverse effects of vigabatrin (peripheral retinopathy) by concurrent use of NKCC2 inhibitors such as bumetanide. Others focus on individual genetic causes out of many associated with infantile spasms and attempt to revert phenotypic outcomes of these mutations. An example here is early neonatal estradiol administration improving density of interneurons impaired by triplet repeat expansion in the ARX gene. However, these approaches do not have general therapeutic validity and can be used only for patients with specific identified gene mutations as adverse effects of such treatments if not applied properly can be fierce. Hence, the IS still require painstaking search for novel treatments aligned with many different genetic mutations, in some we already may know the mechanisms, in some we are still searching. This laborious approach will eventually lead to precision and personalized disease modifying treatments in patients suffering from IS.

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  1. Departments of Cell Biology & Anatomy, Obstetrics & Gynecology, and Neurology, New York Medical College, Valhalla, NY, USA

    Jana Velíšková

  2. Departments of Cell Biology & Anatomy, Pediatrics, and Neurology, New York Medical College, Valhalla, NY, USA

    Libor Velíšek

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  1. Dept Psychiatry , Psychosomatics & Psychotherapy, University of Würzburg, Medical School Clinical Neurochemistry, Würzburg, Germany

    Peter Riederer

  2. Inst für Psychologische Medizin, Haag, Bayern, Germany

    Gerd Laux

  3. Fujita Health University School Medicine, Toyoake, Aichi, Japan

    Toshiharu Nagatsu

  4. Center Translational Res Neurol Diseases, Dalian Med Uni Shanghai Inst Health Sc Center Translational Res Neurol Diseases, Dalian, China

    Weidong Le

  5. Würzburg, Bayern, Germany

    Christian Riederer

Section Editor information

  1. Center of Mental Health, Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Würzburg, Würzburg, Germany

    Peter Riederer

  2. Center for Research Promotion and Support, Fujita Health University School of Medicine, Toyoake, Aichi, Japan

    Toshiharu Nagatsu

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Velíšková, J., Velíšek, L. (2021). Infantile Spasms: Pharmacotherapy Challenges. In: Riederer, P., Laux, G., Nagatsu, T., Le, W., Riederer, C. (eds) NeuroPsychopharmacotherapy. Springer, Cham. https://doi.org/10.1007/978-3-319-56015-1_435-1

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  • DOI: https://doi.org/10.1007/978-3-319-56015-1_435-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-56015-1

  • Online ISBN: 978-3-319-56015-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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