title: Photoparoxysmal responses in children with chromosomal aberrations.
abstract: Electroencephalographic (EEG) anomalies and epilepsy are commonly observed in the clinical picture of patients with chromosomal aberrations. However, no investigations have been performed on the relationship between chromosomal disorders and photoparoxysmal response (PPR). In this study, we evaluate the characteristics of PPRs elicited with intermittent photic stimulation during a routine electroencephalogram in children affected by chromosomal anomalies and correlated this with the clinical profile of the child. A review of the literature has also been performed. PPRs occurred in 14% (4/28) of patients. PPRs were brief (<less 5s), self-limited, elicited by several series of flashes, with an onset latency between 2 and 9s, and scarcely controlled by anticonvulsants. Although further studies are needed to confirm the present data, our observations and the review of the literature suggest that patients carrying chromosomal anomalies might have a higher risk for photosensitivity when compared to the normal population. In these patients, PPR might occur early in life, persist into adulthood, and is commonly inscribed in more polymorphic electroclinical patterns.
authors.affiliation: Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, 53100 Siena, Italy. grosso@unisi.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Lucia
authors.initials: L
authors.lastname: Pucci
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bartalini
authors.forename: Cecilia
authors.initials: C
authors.lastname: Anichini
authors.forename: Rosanna Maria
authors.initials: RM
authors.lastname: Di Bartolo
authors.forename: Simone
authors.initials: S
authors.lastname: Bazzotti
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000150:complications / Q000503:physiopathology*; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D010775:Photic Stimulation