Cognitive-behavioral profiles in teenagers with Dravet syndrome

Brain & Development
Giorgia OlivieriFrancesco Guzzetta

Abstract

To investigate behavior and cognitive performances of teenage patients with Dravet syndrome (DS). We enrolled 20 teenage patients (12 females and 8 males) with DS, followed in the Child Neurology Unit of the Catholic University (Rome). Patients underwent a full clinical examination including behavioral and cognitive assessments (respectively, CBCL and Wechsler scales). All patients showed behavior disorders and mental retardation, mild in six cases, moderate in seven and severe in the remaining seven. Among mildly retarded patients visual function, particularly visuo-motor abilities resulted mostly impaired in Wechsler subtests, whereas verbal skills were relatively preserved. In contrast, a general cognitive impairment was observed in moderately and severely retarded patients. Our teenage patients with DS compared with other series at different ages (young childhood, adulthood) suggest a progressivity of neurological and neuropsychological signs. A visuomotor default and a relative preservation of verbal skills, like what has been found in previous reports of younger patients, are still evident in mildly impaired cases. Therefore, the progression over time of these cases toward a generalized impairment may be suggested, but on...Continue Reading

References

Aug 9, 2006·Epilepsy Research·Roberto Horacio Caraballo, Natalio Fejerman
Sep 19, 2009·American Journal of Medical Genetics. Part a·Daria RivaSilvana Franceschetti
Oct 27, 2009·Brain & Development·Francesca RagonaTiziana Granata
Nov 27, 2010·Epilepsy Research·Daniela ChieffoFrancesco Guzzetta
Apr 8, 2011·Epilepsia·Renzo Guerrini, Hirokazu Oguni
Apr 8, 2011·Epilepsia·Renzo GuerriniSanjay M Sisodiya
Apr 8, 2011·Epilepsia·Pierre GentonCharlotte Dravet
Apr 9, 2011·Epilepsy Research·Daniela ChieffoFrancesco Guzzetta
Apr 29, 2011·Developmental Medicine and Child Neurology·Renzo Guerrini, Melania Falchi
Jun 22, 2012·Brain : a Journal of Neurology·A BrunklausS M Zuberi
May 7, 2013·Epilepsy Research·Domenica BattagliaFrancesco Guzzetta
Nov 15, 2013·Orphanet Journal of Rare Diseases·Rima NabboutCatherine Chiron
Jan 15, 2014·Epilepsy & Behavior : E&B·Nathalie VilleneuveMathieu Milh
May 20, 2014·Epilepsia·Andreas Brunklaus, Sameer M Zuberi
Dec 3, 2015·Epilepsy & Behavior : E&B·Daniela ChieffoFrancesco Guzzetta

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Citations

Apr 23, 2020·British Journal of Pharmacology·Pabitra Hriday PatraAlister James McNeish
Aug 29, 2020·Epilepsy & Behavior : E&B·Amy BrownIngrid E Scheffer
Jun 21, 2021·Seizure : the Journal of the British Epilepsy Association·Erica Minato, Kenneth A Myers
Aug 12, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lori L Isom, Kelly G Knupp

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