Abstracts

Rationale: High dose oral prednisolone steroid therapy for cryptogenic infantile spasms (IS) is widely regarded to be similarly effective when compared to adrenocorticotropic hormone (ACTH). In patients with trisomy 21 and IS, the effectiveness of ACTH has been previously reported. However, studies have not yet examined high dose oral prednisolone steroid therapy specifically in this subpopulation of patients. Methods: A retrospective chart review was performed at our institution by querying our neurophysiology database over the last fourteen years, from 2002 to 2016, for all diagnosis of infantile spasms and hypsarrhythmia. The charts of patients with infantile spasms were reviewed and the following data collected: diagnoses, medications, history of ACTH or oral prednisolone therapy, response to therapy, general developmental progress, and any MRI abnormalities or progression to Lennox-Gastaut Syndrome (LGS). Patients with IS were defined by the presence of classical or modified hypsarrhythmia on electroencephalography (EEG) or clinical infantile spasms previously diagnosed and/or treated at an outside facility. Results: A total of 480 patients were identified through the neurophysiology database queries. We identified 24 patients with infantile spasms and trisomy 21. Of these, 10 patients received a non-steroid anti-seizure medication as first line therapy and did not have any history of later receiving hormone therapy; 30% (3/10) experienced resolution of spasms. Of these patients with trisomy 21 and infantile spasms, 14 received steroid therapy: one with ACTH and 13 with oral prednisolone. Of those who received prednisolone, 69% (9/13) had complete resolution of spasms. The patient with infantile spasms and trisomy 21 who received ACTH had complete seizure resolution without recurrence. The patients who received oral prednisolone received 40-45 mg daily, in accordance with the United Kingdom Infantile Spasms Study protocol. While formal developmental assessments were not performed in this retrospective review, and understanding that children with trisomy 21 follow a unique developmental trajectory, there was a general trend to milder developmental delay in children with IS who had resolution of their spasms. Conclusions: While our cohort of this retrospective chart review is limited, it demonstrates the efficacy of oral prednisolone therapy for treatment of IS specifically in patients with trisomy 21. It also represents the largest series of patients with trisomy 21 and infantile spasms to our knowledge in the literature to date. Moving forward, prospective studies, including formal periodic developmental assessments will be important. Funding: No funding sources to disclose.