Sara K Trowbridge1, Christopher J Yuskaitis2, Nicole Baumer3, Mark Libenson2, Sanjay P Prabhu4, Chellamani Harini2. 1. Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 2. Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 3. Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Down Syndrome Program, Developmental Medicine Center, Boston Children's Hospital, Boston, MA, USA. 4. Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: sanjay.prabhu@childrens.harvard.edu.
Abstract
INTRODUCTION: Infantile spasms (IS) are the most frequent epilepsy syndrome in children with Down syndrome (DS). In DS, cellular (synaptic/dendritic changes) and molecular mechanisms are believed to contribute to epileptogenesis, rather than gross structural anomalies. Neuroimaging is a standard part of the evaluation of newly diagnosed infantile epilepsy including IS and, in this age group, often requires sedation. It is unclear if neuroimaging provides additional clinically useful etiologic information in IS associated with DS. METHODS: We conducted a retrospective chart review and detailed neuroimaging review in 36 patients (24 males) with IS and DS, cared for at Boston Children's Hospital. RESULTS: Incidental imaging abnormalities were common (42%), but potentially relevant etiologic abnormalities were rare (16%). Structural congenital or acquired abnormalities were associated with ongoing antiepileptic drug (AED) use (p = 0.02), as well as refractory epilepsy (p = 0.04). However, neuroimaging did not alter the treatment plan for any of these patients. CONCLUSIONS: Clinicians must carefully weigh the benefits and risks of neuroimaging in infants with DS and IS, as neuroimaging did not lead to any changes in clinical management in our patients but may offer information regarding prognosis.
INTRODUCTION:Infantile spasms (IS) are the most frequent epilepsy syndrome in children with Down syndrome (DS). In DS, cellular (synaptic/dendritic changes) and molecular mechanisms are believed to contribute to epileptogenesis, rather than gross structural anomalies. Neuroimaging is a standard part of the evaluation of newly diagnosed infantile epilepsy including IS and, in this age group, often requires sedation. It is unclear if neuroimaging provides additional clinically useful etiologic information in IS associated with DS. METHODS: We conducted a retrospective chart review and detailed neuroimaging review in 36 patients (24 males) with IS and DS, cared for at Boston Children's Hospital. RESULTS: Incidental imaging abnormalities were common (42%), but potentially relevant etiologic abnormalities were rare (16%). Structural congenital or acquired abnormalities were associated with ongoing antiepileptic drug (AED) use (p = 0.02), as well as refractory epilepsy (p = 0.04). However, neuroimaging did not alter the treatment plan for any of these patients. CONCLUSIONS: Clinicians must carefully weigh the benefits and risks of neuroimaging in infants with DS and IS, as neuroimaging did not lead to any changes in clinical management in our patients but may offer information regarding prognosis.
Authors: Susan Harvey; Nicholas M Allen; Mary D King; Bryan Lynch; Sally A Lynch; Mary O'Regan; Declan O'Rourke; Amre Shahwan; David Webb; Kathleen M Gorman Journal: Dev Med Child Neurol Date: 2022-01-29 Impact factor: 4.864