Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome.
Rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the MeCP2 gene. Girls with Rett syndrome manifest diverse behavioral and cognitive phenotypes, and the reasons for this variability remain unknown. In addition, girls with Rett syndrome often have epileptic seizures and abnormal EEGs, the characteristics of which differ with the patient. The aim of the study was to verify if neurophysiological and epileptological characteristics could be correlated with cognitive measures, obtained using eye tracker technology, and behavioral scores (Vineland Adaptive Behavior Scales and Rett Assessment Rating Scale) in 18 patients with Rett syndrome (mean age 13.7 years) at clinical stages III and IV. Age at epilepsy onset and seizure frequency were strictly correlated with neuropsychological outcome, as were EEG stage and distribution of paroxysmal abnormalities. Our findings demonstrate that neurophysiological features should be considered prognostic of cognitive and behavioral outcome in the clinical management of Rett syndrome.
Vignoli
Aglaia
A
Centro Epilessia, Azienda Ospedaliera San Paolo, Università degli Studi di Milano, Milan, Italy. aglaia.vignoli@ao-sanpaolo.it
Fabio
Rosa Angela
RA
La Briola
Francesca
F
Giannatiempo
Samantha
S
Antonietti
Alessandro
A
Maggiolini
Silvia
S
Canevini
Maria Paola
MP
D000223:Adaptation, Psychological / Q000502:physiology; D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D001526:Behavioral Symptoms / Q000209:etiology* / Q000523:psychology; D002648:Child; D003072:Cognition Disorders / Q000209:etiology* / Q000523:psychology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D009483:Neuropsychological Tests; D015518:Rett Syndrome / Q000150:complications* / Q000523:psychology*; D013223:Statistics as Topic; D055815:Young Adult