Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review

Sysoeva, Olga; Smirnov, Alexander; Stroganova, Tatiana A.

doi:10.1016/j.clinph.2019.11.003

Cited by 12 publications

(13 citation statements)

References 102 publications

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“…For example, 1/f slope of EEG spectrum or slowing of mu-rhythm. Event-related potential characteristics are also among promising biomarkers for RTT (see review [ 40 ]).…”

Section: Resultsmentioning

confidence: 99%

“…An additional 7 studies were added that did not come up on the search but were identified in reading the identified literature. Abstract-based screening identified 105 studies reporting EEG characteristics/epilepsy in RTT, including 21 reviews: one review was related to systematic review of event-related potentials in Rett syndrome [ 40 ] that is out of scope of the current review; and most others ( n = 11) focused on epileptiform discharges and seizures in patients with RTT [ 41 , 46 , 54 , 58 , 223 , 241 , 242 , 243 , 244 , 245 , 246 ]. One review was devoted to findings in RTT animal models [ 205 ].…”

Section: Methodsmentioning

confidence: 99%

“…For this review we focus on papers reporting data collected during recordings of spontaneous EEG, which constitutes the majority of studies that applied the EEG method to patients with RTT since they are commonly made in the clinic to assess the presence of clinically relevant EEG abnormalities. Evidence of atypicalities in the event-related potentials in RTT are summarized elsewhere [ 40 ].…”

Section: Introductionmentioning

confidence: 99%

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Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Smirnov

Stroganova²,

Molholm

et al. 2021

IJMS

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Rett syndrome (RTT) is a rare neurodevelopmental disorder that is usually caused by mutations of the MECP2 gene. Patients with RTT suffer from severe deficits in motor, perceptual and cognitive domains. Electroencephalogram (EEG) has provided useful information to clinicians and scientists, from the very first descriptions of RTT, and yet no reliable neurophysiological biomarkers related to the pathophysiology of the disorder or symptom severity have been identified to date. To identify consistently observed and potentially informative EEG characteristics of RTT pathophysiology, and ascertain areas most worthy of further systematic investigation, here we review the literature for EEG abnormalities reported in patients with RTT and in its disease models. While pointing to some promising potential EEG biomarkers of RTT, our review identify areas of need to realize the potential of EEG including (1) quantitative investigation of promising clinical-EEG observations in RTT, e.g., shift of mu rhythm frequency and EEG during sleep; (2) closer alignment of approaches between patients with RTT and its animal models to strengthen the translational significance of the work (e.g., EEG measurements and behavioral states); (3) establishment of large-scale consortium research, to provide adequate Ns to investigate age and genotype effects.

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“…For example, 1/f slope of EEG spectrum or slowing of mu-rhythm. Event-related potential characteristics are also among promising biomarkers for RTT (see review [ 40 ]).…”

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Smirnov

Stroganova²,

Molholm

et al. 2021

IJMS

Self Cite

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“…Research at the preclinical level has reported similar abnormalities in the VEP and AEP in animal models of the condition 12,25–28 and has identified potential mechanisms underlying the attenuation of the responses for reviews, see refs. 29 and 30. The translatable value of these measures further points to their potential utility in clinical trials for RTT.…”

Section: Discussionmentioning

confidence: 99%

Multisite Study of Evoked Potentials in Rett Syndrome

Saby

Benke

Peters

et al. 2021

Annals of Neurology

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Objective The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease‐modifying therapeutics are currently under development, there is a pressing need for biomarkers to objectively and precisely assess the effectiveness of these treatments. Method Yearly visual evoked potentials (VEPs) and auditory evoked potentials (AEPs) were acquired from individuals with RTT, aged 2 to 37 years, and control participants across 5 sites as part of the Rett Syndrome and Related Disorders Natural History Study. Baseline and year 1 data, when available, were analyzed and the repeatability of the results was tested. Two syndrome‐specific measures from the Natural History Study were used for evaluating the clinical relevance of the VEP and AEP parameters. Results At the baseline study, group level comparisons revealed reduced VEP and AEP amplitude in RTT compared to control participants. Further analyses within the RTT group indicated that this reduction was associated with RTT‐related symptoms, with greater severity associated with lower VEP and AEP amplitude. In participants with RTT, VEP and AEP amplitude was also negatively associated with age. Year 1 follow‐up data analyses yielded similar findings and evidence of repeatability of EPs at the individual level. Interpretation The present findings indicate the promise of evoked potentials (EPs) as an objective measure of disease severity in individuals with RTT. Our multisite approach demonstrates potential research and clinical applications to provide unbiased assessment of disease staging, prognosis, and response to therapy. ANN NEUROL 2021;89:790–802

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“…As appealing as ABRs are as a non-invasive measure of function in lower auditory structures, too few studies have performed this test on rodent models of ASD to draw conclusions across different models. ABR measures in children with autism show trends towards lower amplitudes and longer latencies, but there is a significant variation in the response [ 74 , 76 , 136 ]. The inability of rodent studies in various models to converge on a consistent ABR phenotype may therefore be an accurate portrayal of the diversity of ABRs in iASD with a range of aetiologies.…”

Section: Resultsmentioning

confidence: 99%

Auditory processing in rodent models of autism: a systematic review

Wilde

Constantin

Thorne

et al. 2022

J Neurodevelop Disord

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Autism is a complex condition with many traits, including differences in auditory sensitivity. Studies in human autism are plagued by the difficulty of controlling for aetiology, whereas studies in individual rodent models cannot represent the full spectrum of human autism. This systematic review compares results in auditory studies across a wide range of established rodent models of autism to mimic the wide range of aetiologies in the human population. A search was conducted in the PubMed and Web of Science databases to find primary research articles in mouse or rat models of autism which investigate central auditory processing. A total of 88 studies were included. These used non-invasive measures of auditory function, such as auditory brainstem response recordings, cortical event-related potentials, electroencephalography, and behavioural tests, which are translatable to human studies. They also included invasive measures, such as electrophysiology and histology, which shed insight on the origins of the phenotypes found in the non-invasive studies. The most consistent results across these studies were increased latency of the N1 peak of event-related potentials, decreased power and coherence of gamma activity in the auditory cortex, and increased auditory startle responses to high sound levels. Invasive studies indicated loss of subcortical inhibitory neurons, hyperactivity in the lateral superior olive and auditory thalamus, and reduced specificity of responses in the auditory cortex. This review compares the auditory phenotypes across rodent models and highlights those that mimic findings in human studies, providing a framework and avenues for future studies to inform understanding of the auditory system in autism.

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Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review

Cited by 12 publications

References 102 publications

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

Multisite Study of Evoked Potentials in Rett Syndrome

Auditory processing in rodent models of autism: a systematic review

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