Prioritizing Hormone Therapy Over Vigabatrin as the First Treatment for Infantile Spasms: A Quality Improvement Initiative.

Background And Objectives: Infantile spasms (IS) are early childhood seizures with potentially devastating consequences. Standard therapies (adrenocorticotropic hormone [ACTH], high-dose prednisolone, and vigabatrin) are strongly recommended as the first treatment for IS. Although this recommendation comes without preference for one standard therapy over another, early remission rates are higher with hormone therapy (ACTH and high-dose prednisolone) when compared with vigabatrin.

Using quality improvement to implement the CNS/AAN quality measure on rescue medication for seizures.

Objective: A multidisciplinary quality improvement (QI) team was established to conduct analysis of data for prescribed seizure rescue medication doses from January 2013 to December 2015 to identify and improve inappropriately low dose prescriptions. The QI team identified areas of focus for improvement opportunities and developed the project objective based on the 2017 American Academy of Neurology (AAN) and Child Neurology Society (CNS) quality measure.

Methods: Within a freestanding children's hospital, the QI team developed key drivers and implemented interventions, such as the midazolam prefilled syringe program with use of standardized dosing, electronic chart tools, monthly pharmacy review of all underdosed prescriptions, and provider and nursing education.

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infantile spasms. We report two male patients with early-onset infantile spasms in whom a novel c.34G>T (p.

Acceptance of the use of diazepam rectal gel in school and day care settings.

This study was conducted to identify how often parents of children with epilepsy encounter barriers to the use of diazepam rectal gel in day care or school settings and how these barriers affect the child and family. Sixty-four parents completed an 18-item questionnaire documenting their experience with asking their child's school to administer diazepam rectal gel. No data regarding its actual use in the school was obtained.