Authors :
Presenting Author: Katrina Boyer, PhD, ABPP-CN – Boston Children's Hospital
Hana Farzaneh, MD – Boston Children's Hospital
Dana Martino, BS – Boston Children's Hospital
Rebecah Kaplun, BS – Boston Children's Hospital
Giovanna Stefanini, BS – Boston Children's Hospital
Stephanie Donatelli, MD – Boston Children's Hospital
Maria Planchart Ferretto, MD – Boston Children's Hospital
Tristin Nyman-Mallis, PhD – Medical College of Wisconsin
Christina Briscoe, MD, EdM – Boston Children's Hospital
Avantika Singh, MD – Medical College of Wisconsin
Chellamani Harini, MD – Boston Children's Hospital
Rationale:
Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy. A substantial proportion of patients with IESS have a potentially surgically remediable etiology. While it is well established that early surgical intervention in drug-resistant IESS with surgically remediable lesions is associated with improved neurodevelopmental outcomes, the developmental trajectories of drug-responsive patients with similar lesions who do not undergo surgery remain underreported. In this study, we describe the developmental outcomes in a cohort of IESS patients with surgically remediable lesions—both those who underwent epilepsy surgery and those who were medically managed with good seizure control.
Methods:
Children with IESS, diagnosed between 2014 and 2021, were included for retrospective chart review if they had a surgically remediable epileptogenic lesion visible on brain MRI and at least 12 months of follow-up.
Results:
A retrospective chart review of 27 patients with IESS with surgically remediable lesion was conducted. Medical Response Group (MRG) consisted of 13 patients (61% male); the mean duration from onset to last follow-up was 4.25 years (range 1.5-6.5). The Surgical Intervention Group (SIG) consisted of 14 (drug-resistant and underwent epilepsy surgery) (64% male); the mean duration from onset to last follow-up was 6.0 years (range 7.0-9.5).
At the time of onset, 6 /14 SIG patients had a developmental delay in one or more domains; by the last follow-up, 13 had developmental delay, 3 were nonverbal, one was non-ambulatory, 4 had intellectual disability (ID), 6 had autism spectrum disorder (ASD), and 4 had attention deficit hyperactivity disorder (ADHD). 8 SIG patients had at least one neuropsychological evaluation (cognitive standard score range: 38 to 112, and adaptive behavior standard score range: 41 to 112) and 7 had two such evaluations. Over time, 57% had cognitive standard score decline of equal to or greater than 1 standard deviation; none had improvement on this metric.
At the time of onset, 6 /13 MRG patients had a developmental delay in one or more domains; by the last follow-up, 11 had developmental delay, one was non-verbal, none were non-ambulatory, 2 had ID, 2 had ASD, and 1 had ADHD. 4 MRG patients had at least one neuropsychological evaluation (cognitive standard score range: 67 to 100; adaptive behavior standard scores range: 83 to 85), and 2 had two such evaluations. Among MRG patients with serial neuropsychological evaluations, one patient had low cognitive function at baseline with decline over time, and the other had a stable cognitive function in the Average to Low Average range.
Conclusions:
Developmental delay in at least one domain is prevalent among both groups of patients. Decline in developmental status was most notable in the SIG. Limitations include a small sample size and discrepant age at follow-up between the two groups. The older age of the SIG has allowed greater time for the emergence of developmental disabilities than the MRG. Routine and longitudinal standardized developmental monitoring is essential to accurately assess the impact of treatment decisions in patients with IESS and surgically remediable lesion.
Funding: NA