Response to treatment and outcomes of infantile spasms in Down syndrome

• Published in: Developmental medicine and child neurology Vol. 64; no. 6; pp. 780 - 788
• Main Authors: Harvey, Susan, Allen, Nicholas M., King, Mary D., Lynch, Bryan, Lynch, Sally A., O’Regan, Mary, O’Rourke, Declan, Shahwan, Amre, Webb, David, Gorman, Kathleen M., Aziz, J, El Hassan, M, Flynn, K, Hanrahan, D, Kehoe, C, Leahy, C, Lynch, N, McHugh, JC, McSweeney, N, O’Mahony, E, O’Mahony, O, Tirupathi, S
• Format: Journal Article
• Language: English
• Published: England John Wiley and Sons Inc 01.06.2022
• Subjects: Adult; Anticonvulsants - therapeutic use; Child; Down Syndrome - complications; Humans; Infant; Original; Prednisolone - therapeutic use; Seizures - drug therapy; Spasm - chemically induced; Spasm - drug therapy; Spasms, Infantile - drug therapy; Spasms, Infantile - epidemiology; Treatment Outcome; Vigabatrin - therapeutic use; Young Adult
• ISSN: 0012-1622; 1469-8749
• DOI: 10.1111/dmcn.15153

Aim To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long‐term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland. Method This was a 10‐year retrospective multicentre review of clinical records and investigations, focusing on treatment response, side effects, and long‐term outcomes. Results The prevalence of infantile spasms in Down syndrome was 3.0% during the study period. Fifty‐four infants were identified with median age of spasm onset at 201 days (interquartile range [IQR] 156–242). Spasm cessation was achieved in 88% (n=46) at a median of 110 days (IQR 5–66). The most common first‐line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At follow‐up (median age 23.7mo; IQR 13.4–40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. Seventeen children (31%) experienced medication side effects, with vigabatrin accounting for 52%. Interpretation Prednisolone is an effective and well‐tolerated medication for treating infantile spasms in Down syndrome. Despite the high percentage of spasm cessation, developmental concerns and ongoing seizures were common.