Concepts of color, shape, size and position in ten children with Rett syndrome

Velloso, Renata de Lima; Araújo, Ceres Alves de; Schwartzman, José Salomão

doi:10.1590/s0004-282x2009000100013

Cited by 22 publications

(12 citation statements)

References 18 publications

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“…Although cognitive function is difficult to assess in individuals with RTT, many are believed to have intellectual impairments (Velloso Rde et al ). Similarly, the majority of RTT mouse models display cognitive deficits using both novel object recognition and associative fear conditioning paradigms (Katz et al ).…”

Section: Resultsmentioning

confidence: 99%

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MeCP2 R168X male and female mutant mice exhibit Rett‐like behavioral deficits

Schaevitz

Gómez

Zhen

et al. 2013

Genes Brain and Behavior

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Rett syndrome (RTT) is a regressive developmental disorder characterized by motor and breathing abnormalities, anxiety, cognitive dysfunction and seizures. Approximately 95% of RTT cases are caused by more than 200 different mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). While numerous transgenic mice have been created modeling common mutations in MeCP2, the behavioral phenotype of many of these male and, especially, female mutant mice has not been well characterized. Thorough phenotyping of additional RTT mouse models will provide valuable insight into the effects of Mecp2 mutations on behavior and aid in the selection of appropriate models, ages, sexes and outcome measures for preclinical trials. In this study, we characterize the phenotype of male and female mice containing the early truncating MeCP2 R168X nonsense point mutation, one of the most common in RTT individuals, and compare the phenotypes to Mecp2 null mutants. Mecp2 R168X mutants mirror many clinical features of RTT. Mecp2 R168X/y males exhibit impaired motor and cognitive function and reduced anxiety. The behavioral phenotype is less severe and with later onset in Mecp2 R168X/+ females. Seizures were noted in 3.7% of Mecp2 R168X mutant females. The phenotype in Mecp2 R168X/y mutant males is remarkably similar to our previous characterizations of Mecp2 null males, whereas Mecp2 R168X/+ females exhibit a number of phenotypic differences from females heterozygous for a null Mecp2 mutation. This study describes a number of highly robust behavioral paradigms that can be used in preclinical drug trials and underscores the importance of including Mecp2 mutant females in preclinical studies.

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Section: Resultsmentioning

confidence: 99%

“…While many RTT individuals are reported to have intellectual impairments (Velloso Rde et al ), the exact nature of cognitive dysfunction has been difficult to assess in humans (Berger‐Sweeney ). Here, cognitive function was assessed utilizing two tasks that rely on subtly different brain circuits (Albasser et al ; Maren & Quirk ).…”

Section: Discussionmentioning

confidence: 99%

MeCP2 R168X male and female mutant mice exhibit Rett‐like behavioral deficits

Schaevitz

Gómez

Zhen

et al. 2013

Genes Brain and Behavior

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“…While monitoring of eye-gaze patterns has proven a fruitful avenue of pursuit and has provided significant insights into preserved abilities [1–7], limitations of the approach are that it does not provide information regarding the integrity of underlying neural mechanisms and that it is highly reliant on the behavioral state and active participation of the patient. In this regard, non-invasive brain mapping techniques such as high-density electrophysiology allow for objective measures of brain function, provide insight into underlying cortical network dynamics, and allow for an assessment of the processing level at which information flow may be breaking down [8].…”

Section: Introductionmentioning

confidence: 99%

Automatic cortical representation of auditory pitch changes in Rett syndrome

Foxe

Burke

Andrade

et al. 2016

J Neurodevelop Disord

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BackgroundOver the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication abilities. It becomes extremely difficult for clinicians and caretakers to accurately assess the level of preserved auditory functioning in these children, an issue of obvious clinical import. Non-invasive electrophysiological techniques allow for the interrogation of auditory cortical processing without the need for overt behavioral responses. In particular, the mismatch negativity (MMN) component of the auditory evoked potential (AEP) provides an excellent and robust dependent measure of change detection and auditory sensory memory. Here, we asked whether females with Rett syndrome would produce the MMN to occasional changes in pitch in a regularly occurring stream of auditory tones.MethodsFourteen girls with genetically confirmed Rett syndrome and 22 age-matched neurotypical controls participated (ages 3.9–21.1 years). High-density electrophysiological recordings from 64 scalp electrodes were made while participants passively listened to a regularly occurring stream of 503-Hz auditory tone pips that was occasionally (15 % of presentations) interrupted by a higher-pitched deviant tone of 996 Hz. The MMN was derived by subtracting the AEP to these deviants from the AEP produced to the standard.ResultsDespite clearly anomalous morphology and latency of the AEP to simple pure-tone inputs in Rett syndrome, the MMN response was evident in both neurotypicals and Rett patients. However, we found that the pitch-evoked MMN was both delayed and protracted in duration in Rett, pointing to slowing of auditory responsiveness.ConclusionsThe presence of the MMN in Rett patients suggests preserved abilities to process pitch changes in auditory sensory memory. This work represents a beginning step in an effort to comprehensively map the extent of auditory cortical functioning in Rett syndrome. These easily obtained objective brain measures of auditory processing have promise as biomarkers against which future therapeutic efforts can be assayed.

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“…We have no doubt about the value of eye-gaze technology for investigating communication and cognition in patients with Rett syndrome (RS) and their responses to it [1,2]. However, it is a kind of research that involves very rigorous methodologic procedures to guarantee conclusive results, and a large cohort does not necessarily mean the best study results, although multicentric efforts with wellstandardized patterns always are the best way to understand a phenomenon.…”

Section: The Use Of Eye-gaze Technology In Girls With Rett Syndromementioning

confidence: 99%