ArticleTranslational psychiatry2020
Atypical processing of tones and phonemes in Rett Syndrome as biomarkers of disease progression.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Variability in sensory processing and evoked potentials in Rett syndrome.medRxiv : the preprint server for health sciences · 2026Article
- Vagus Nerve Stimulation Paired With Tones Alters the Auditory Cortex Proteome in a Rat Model of Rett Syndrome.Developmental neurobiology · 2026Article
- Distinct Auditory Thalamocortical Pathologies Underlie Emerging Neurophysiological Dysfunction in a Cln3 Mouse Model of Batten Disease.bioRxiv : the preprint server for biology · 2026Article
- Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome.Annals of clinical and translational neurology · 2026Article
- Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.bioRxiv : the preprint server for biology · 2025Article
- Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders.Frontiers in integrative neuroscience · 2025Article
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.Annals of neurology · 2024Article
- Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome.Journal of neurodevelopmental disorders · 2024Article
- Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).Journal of neurodevelopmental disorders · 2024Article
- Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.Molecular autism · 2023Article
- Comparison of evoked potentials across four related developmental encephalopathies.Journal of neurodevelopmental disorders · 2023Article
- Review
- EEG as a translational biomarker and outcome measure in fragile X syndrome.Translational psychiatry · 2022Review
- Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.Frontiers in neuroscience · 2022Article
- Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.Brain communications · 2022Article
- Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism.Journal of neurodevelopmental disorders · 2021Article
- Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).Orphanet journal of rare diseases · 2021Article
- Disease-modifying therapies for Rett syndrome: a review for neurologists.Frontiers in neurologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 2 countries.
Funding
Abstract
Due to severe motor impairments and the lack of expressive language abilities seen in most patients with Rett Syndrome (RTT), it has proven extremely difficult to obtain accurate measures of auditory processing capabilities in this population. Here, we examined early auditory cortical processing of pure tones and more complex phonemes in females with Rett Syndrome (RTT), by recording high-density auditory evoked potentials (AEP), which allow for objective evaluation of the timing and severity of processing deficits along the auditory processing hierarchy. We compared AEPs of 12 females with RTT to those of 21 typically developing (TD) peers aged 4-21 years, interrogating the first four major components of the AEP (P1: 60-90 ms; N1: 100-130 ms; P2: 135-165 ms; and N2: 245-275 ms). Atypicalities were evident in RTT at the initial stage of processing. Whereas the P1 showed increased amplitude to phonemic inputs relative to tones in TD participants, this modulation by stimulus complexity was absent in RTT. Interestingly, the subsequent N1 did not differ between groups, whereas the following P2 was hugely diminished in RTT, regardless of stimulus complexity. The N2 was similarly smaller in RTT and did not differ as a function of stimulus type. The P2 effect was remarkably robust in differentiating between groups with near perfect separation between the two groups despite the wide age range of our samples. Given this robustness, along with the observation that P2 amplitude was significantly associated with RTT symptom severity, the P2 has the potential to serve as a monitoring, treatment response, or even surrogate endpoint biomarker. Compellingly, the reduction of P2 in patients with RTT mimics findings in animal models of RTT, providing a translational bridge between pre-clinical and human research.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.