Abstract
Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic
features including psychomotor retardation, impaired language development, hand stereotypies,
gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly
contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one
of the most well-described and problematic, affecting as many as 50%-90% of patients.
Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic
management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many
nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate
from seizures making clinical management and family counseling challenging. Our goal
in this review is to better define the clinical and electrophysiological aspects of
the epilepsy associated with Rett syndrome and provide practical guidance regarding
management.
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Article info
Publication history
Accepted:
November 12,
2012
Received:
September 11,
2012
Identification
Copyright
© 2013 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
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- Video-Polygraphy in Rett SyndromePediatric NeurologyVol. 50Issue 2
- PreviewWe read with great interest the article by Dolce et al.1 on Rett syndrome and epilepsy. In particular, the authors outline that epilepsy in Rett syndrome may easily be mistaken and a myriad of behaviors may be inappropriately classified as epileptic events. In fact, epileptic seizures, movement disorders, and breathing disturbances may be observed, and a correct differential diagnosis is mandatory for the management of Rett syndrome. Long-term video-polygraphic monitoring is a safe diagnostic tool that provides a high diagnostic yield rate and a direct adjustment of therapeutic management of patients with epilepsy and nonepileptic paroxysmal events.
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