Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome

Vignoli, Aglaia; Fabio, Rosa Angela; Briola, Francesca La; Giannatiempo, Samantha; Antonietti, Alessandro; Maggiolini, Silvia; Canevini, Maria Paola

doi:10.1016/j.yebeh.2010.01.024

Cited by 55 publications

(45 citation statements)

References 26 publications

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“…It was already observed that epileptic characteristics can be associated with poorer attention in patients with RS 20 . New studies are needed now to understand the physiological and environmental conditions which can interfere both in the social engagement and the cognitive abilities of such population, so that better and more realistic interventional strategies can be developed.…”

Section: Groupsmentioning

confidence: 90%

“…Recently, the study was replied with longer exposure time (8 seconds) and with a more systematic but not yet adequate way to teach these basic concepts to RS girls, and the results were the very same 19 . A little later, Vignoli et al 20 used eye tracking technology in an attempt to establish correlations between neurophysiological and cognitive function in RS, and measured the length of fixation during 5 seconds for recognition, matching of pairs, and semantic categorization. Their preliminary findings indicated that epilepsy characteristics and EEG patterns suggestive of epileptic encephalopathy should be considered prognostic factors in neuropsychological outcome of RS patients, especially concerning the input phase (attention) of information processing.…”

Section: Clean Pictures Selected Areasmentioning

confidence: 99%

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The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

Schwartzman

Velloso

D'Antino

et al. 2015

Arq. Neuro-Psiquiatr.

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Although Rett syndrome (RS) has been considered a manifestation of autism spectrum disorders (ASD) as well as a genetic model of ASD 1 , many aspects peculiar to each of these conditions make them very different and deserve to be even more clarified, so that diagnosis and therapeutic and educational interventions can be as effective as possible for one and other condition.RS is characterized by severe neuromotor, cognitive and communicative impairments. The severity of neuromotor impairments determines the level of global apraxia, resulting in loss or non-development of gait and purposeful use of hands, and in serious respiratory, gastrointestinal and orthopedic disturbances. Most of them do not develop any kind of speech. About 60%-70% develop with epileptic seizures. The empirical observation of RS patients points to a relative preservation of social domain, as they have a very intense look and somehow respond to social stimuli. The etiology of RS has strongly been associated with mutations in MECP2 gene 2,3,4 , and more recently with alterations in CDKL5 and FOGX1 in some cases 5,6 . Although it has been ABSTRACT Objective: To compare visual fixation at social stimuli in Rett syndrome (RT) and autism spectrum disorders (ASD) patients. Method: Visual fixation at social stimuli was analyzed in 14 RS female patients (age range 4-30 years), 11 ASD male patients (age range 4-20 years), and 17 children with typical development (TD). Patients were exposed to three different pictures (two of human faces and one with social and non-social stimuli) presented for 8 seconds each on the screen of a computer attached to an eye-tracker equipment. Results: Percentage of visual fixation at social stimuli was significantly higher in the RS group compared to ASD and even to TD groups. Conclusion: Visual fixation at social stimuli seems to be one more endophenotype making RS to be very different from ASD.

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Section: Groupsmentioning

confidence: 90%

Section: Clean Pictures Selected Areasmentioning

confidence: 99%

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

Schwartzman

Velloso

D'Antino

et al. 2015

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

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“…Girls with RS reported high rates of correct answers, thus suggesting that intentional gaze in girls with RS is measurable and can be used as a path to explore their cognitive performances. Other recent works have focused on the relationship between cognitive and neurophysiological factors showing that age at epilepsy onset and seizure frequency were strongly correlated with neuropsychological outcomes and that age at seizure onset was inversely correlated with the ability to recognize stimuli (Vignoli et al, 2010). Girls with RS were also found to have longer recorded event-related potentials latencies and smaller recorded event-related potentials amplitudes than controls, suggesting slowed information processing and reduced brain activation with advancing years (Stauder et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Training communication abilities in Rett Syndrome through reading and writing

Fabio¹,

Castelli²,

Marchetti³

et al. 2013

Front. Psychol.

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The goal of this clinical case study is to investigate the possibility of training communication abilities in people with Rett Syndrome (RS). Usually, girls with RS never exceed the sensorimotor stage of development, but the inter-individual variability typical of RS may lead us to doubt the irrevocability of that developmental limit, especially for those girls who are engaged in cognitive rehabilitation. The case study reported here concerns a 21-year-old girl with RS who was engaged in cognitive rehabilitation training based upon the principles of Feuerstein's modificability and mediated learning theory. The training aimed to teach her basic concepts and enhance reading-writing abilities. Statistical analyses showed that the girl reached adequate reading-writing abilities, proving the validity of the cognitive intervention which allowed her to communicate by composing words with her forefinger on an alphabetic table. Although these results need to be cautiously considered as they derive from a single case study, they have implications for future cognitive rehabilitation for deeply impaired clinical conditions as in the case of RS.

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“…18 Some authors have relied on selected strategies to design cognitive tasks, such as eye-tracking in Rett syndrome. 19 This What this paper adds • Neurobehavioural phenotypes can be described specifically in selected neurogenetic disorders.…”

mentioning

confidence: 99%

“…Selected language skills may be correlated with intellectual ability in some conditions, including Down syndrome and Williams syndrome, but language characteristics may not parallel cognitive impairment, as exemplified in Angelman syndrome and Rett syndrome . Some authors have relied on selected strategies to design cognitive tasks, such as eye‐tracking in Rett syndrome . This approach is of potentially great interest but may not avoid some important biases.…”

mentioning

confidence: 99%

Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders

Dan

Pelc

Meırleır

et al. 2015

Develop Med Child Neuro

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Careful study of the phenotype can have implications at several levels, namely clinical diagnosis, pathophysiological reasoning, management planning, and outcome measurement. Behavioural phenotypes involve cognition, communication, social skills, and motor control. They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception–action–cognition–environment (PACE) paradigm, which focuses on the neurodevelopmental processes that underlie learning and adaption to the environment through perception, action, and cognitive processing. Although this paradigm was originally developed in the context of cerebral palsy, it can be applied along developmental trajectories in several neurogenetic conditions, including Down syndrome, fragile X syndrome, Rett syndrome, Angelman syndrome, and Williams syndrome, to name but a few. It must be recognized, however, that relevant, valid tools for assessment and management strategies still need to be developed.

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Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome

Cited by 55 publications

References 26 publications

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

Training communication abilities in Rett Syndrome through reading and writing

Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders

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