Data di Pubblicazione:
2012
Citazione:
Neuropsychological outcomes in adults with tuberous sclerosis complex / A. Vignoli, K. Turner, F. La Briola, A. Piazzini, E. Zambrelli, V. Chiesa, G. Scornavacca, R.M. Alfano, M.P. Canevini. - In: EPILEPSIA. - ISSN 0013-9580. - 53:Suppl. 5(2012 Sep), pp. 214-214. ((Intervento presentato al 10. convegno European Congress on Epileptology tenutosi a London nel 2012.
Abstract:
Purpose: Tuberous sclerosis complex (TSC) is an autosomal-dominant
genetic disorder and is a frequent cause of epilepsy and different degrees
of neuropsychological impairements. The goal of this study was to assess
cognitive outcome in patients with TSC and identify specific clinical
variables correlated to neuropsychological profiles.
Method: Out of 119 adult patients currently followed at Neurology IIEpilepsy
Center, St Paolo Hospital in Milan, 84 individuals underwent to
a complete neuropsychological evaluation. This battery included the following
cognitive functions: intelligence, memory, attention, language
and executive functions. Subjects were divided into three groups (normal
cognition, mild delay, moderate-severe delay) according to results
obtained from cognitive evaluation.
Result: Of 84 enrolled patients (56 F, 28 M, mean age = 34.0), there
were 31 (37%) subjects with normal cognition, 21 (25%) with mild delay
and 32 (38%) with moderate-severe delay. 72 subjects (85%) had epilepsy,
with mean age at onset of seizures of 3.9 years (ranged from 1
month to 48 years). 33 (46%) had a history of infantile spasms and 34
(47%) presented refractory epilepsy. 17 (20%) patients were diagnosed
with TSC1 mutation, 49 (58%) with TSC2, 9 (11%) with no mutation and
9 (11%) are ongoing. Cognitive outcomes were correlated with age of
epilepsy onset, history of infantile spasms, genetic analysis, refractory
epilepsy and seizure frequency (p<0.05).
Conclusion: Our data suggest that, in patients with TSC, the age at onset
of epilepsy, history of infantile spams, seizure frequency and genetic
mutation are predictive of cognitive function.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
A. Vignoli, K. Turner, F. La Briola, A. Piazzini, E. Zambrelli, V. Chiesa, G. Scornavacca, R.M. Alfano, M.P. Canevini
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