Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis. © 2004 Published by Elsevier Ltd. on behalf of European Paediatric Neurology Society.

Curatolo, P., Porfirio, M.C., Manzi, B., & Seri S (2004). Autism in tuberous sclerosis. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 8(6), 327-332 [10.1016/j.ejpn.2004.08.005].

Autism in tuberous sclerosis

CURATOLO, PAOLO;
2004

Abstract

Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis. © 2004 Published by Elsevier Ltd. on behalf of European Paediatric Neurology Society.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/39 - Neuropsichiatria Infantile
English
Con Impact Factor ISI
anticonvulsive agent; dopamine 2 receptor blocking agent; risperidone; serotonin uptake inhibitor; tuberin; child; clinical feature; cognitive defect; comorbidity; disease association; early diagnosis; EEG abnormality; electroencephalography; epidemiological data; functional assessment; genetic screening; histopathology; human; infant; infantile autism; infantile spasm; learning disorder; nuclear magnetic resonance imaging; outcomes research; pathogenesis; pathological anatomy; pathophysiology; population research; prevalence; priority journal; review; statistical significance; temporal lobe epilepsy; tuberous sclerosis; Autistic Disorder; Child; Epilepsy; Humans; Learning Disorders; Magnetic Resonance Imaging; Tuberous Sclerosis
Autism; Cortical tubers; Infantile spasms; Tuberous sclerosis complex
Curatolo, P., Porfirio, M.C., Manzi, B., & Seri S (2004). Autism in tuberous sclerosis. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 8(6), 327-332 [10.1016/j.ejpn.2004.08.005].
Curatolo, P; Porfirio, M; Manzi, B; Seri, S
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/56368
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