Rationale:
The incidence of infantile spasms (IS) is roughly 2.5 to 5.5 per 10,000 live births and is a disorder that can lead to developmental delay or regression. Rapid diagnosis and timely initiation of effective treatment can improve the chance of spasm resolution and impact developmental outcomes.
Method:
This is a cross-sectional case cohort study examining the IS referrals to the Infant Epilepsy Program (IEP) at Children’s National Hospital (CNH) during a 12-month period from April 2019 to March 2020. Patients who received initial IS treatment outside of CNH or had incomplete treatment course were excluded from this study. Patients were grouped as IS treatment initiated before or after referral to the IEP clinic. Treatment response to first, second or third line therapy was collected.
Results:
Between April 2019 to March 2020, 28 patients were referred to the Infant Epilepsy Program. 5 patients were excluded (1 previously treated; 4 treated elsewhere). Of the 23 patients treated at CNH, 13 (57%) were male with median age of onset of 7 months (range 3-22). Primary neurologic diagnosis was genetic (10, 43.4%), cryptogenic (7, 30.4%), CNS malformations (2, 8.7%), trauma (2, 8.7%), periventricular leukomalacia (1, 4.3%), and congenital hydrocephalus (1, 4.3%). Genetic diagnoses included Down syndrome, PRICKLE1, DNM1L, TUBB2A, SYNGAP1, MCCAD, PNKP, MPPH syndrome, and Glut1 deficiency. Initial therapy given were 12 (52.1%) ACTH, 8 (34.7%) prednisolone, 2 (8.7%) topamirate, and 1 (4.3%) vigabatrin. Treatment response was achieved with first therapy in 47.8% (11/23). Second therapy given to treatment failures were 6 (50%) vigabatrin, 3 (25%) prednisolone, 2 (17%) ACTH, and 1 (8%) topiramate. Treatment response was achieved with second therapy in 6 (26%). Third therapy given to second-line treatment failures were 2 (33%) vigabatrin, 2 (33%) ACTH, 1 (17%) prednisolone, and 1 (17%) clonazepam. Overall 19 (82.6%) achieved treatment response. Treatment response was more likely achieved when first line therapy was initiated after referral to the IEP clinic (73%, 8/11) than before referral (25%, 3/12) (p=0.02) but no difference was seen for treatment response when second line therapy was initiated after referral (67%, 2/3) than before referral (44%, 4/9) (p=0.5) (Table 1).
Conclusion:
The first year of a dedicated IS program had patient referrals of primarily genetic or structural etiology. ACTH was the most common initial treatment. Vigabatrin was the most common second line therapy. Initial treatment response was more likely when IS treatment was initiated after referral to the IEP clinic. Quality improvement measures are underway to reduce time to initiate treatment, examine epilepsy outcomes, and address the multi-disciplinary, comprehensive medical needs of these patients.
Funding:
:None
FIGURES
Figure 1