Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research

Frontiers in Integrative Neuroscience

Sarika U. Peters¹  Timothy P. L. Roberts²  Eric D. Marsh³  Charles A. Nelson⁵  Joni N. Saby⁶ 

[1] Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, United States;Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States;Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States;Division of Neurology and Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States;Laboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, United States;Lurie Family Foundations MEG Imaging Center, Department of Radiology, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States;

关键词: biomarker;    Rett syndrome;    developmental encephalopathy;    evoked potential;    EEG;   

DOI  :  10.3389/fnint.2020.00030

来源: DOAJ

【 摘 要 】

Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new therapeutics for the condition. Several of these therapeutics are currently being tested in clinical trials with others likely to progress to clinical trials in the coming years. The failure of recent clinical trials for Rett syndrome and other neurodevelopmental disorders has highlighted the need for electrophysiological or other objective biological markers of treatment response to support the success of clinical trials moving forward. The purpose of this review is to describe the existing studies of electroencephalography (EEG) and evoked potentials (EPs) in Rett syndrome and discuss the open questions that must be addressed before the field can adopt these measures as surrogate endpoints in clinical trials. In addition to summarizing the human work on Rett syndrome, we also describe relevant studies with animal models and the limited research that has been carried out on Rett-related disorders, particularly methyl-CpG binding protein 2 (MECP2) duplication syndrome, CDKL5 deficiency disorder, and FOXG1 disorder.

【 授权许可】

Unknown