title: Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.
abstract: Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome (NS) and 22q11.2 deletion syndrome (22q11.2DS), and explore the possible genotype-phenotype relationships. 'Form coherence' abilities for the ventral stream and 'motion coherence' abilities for the dorsal stream were evaluated in 19 participants with NS and 20 participants with 22q11.2DS. Collected data were compared with 55 age-matched controls. Participants with NS and 22q11.2DS did not differ in the form coherence task, and their performance was significantly lower than that of controls. However, in the motion coherence task, the group with NS and controls did not differ, and both obtained significantly higher scores than the group with 22q11.2DS. Our findings indicate that deficits in the dorsal stream are related to the specific genotype, and that in our syndromic groups the ventral stream is more vulnerable than the dorsal stream.
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Piccini
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Menghini
authors.affiliation: Department of Neuroscience, Imaging and Clinical Sciences, Institute for Advanced Biomedical Technologies, University "G.d'Annunzio", Chieti-Pescara, Italy.
authors.forename: A
authors.initials: A
authors.lastname: D'Andrea
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Caciolo
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Pontillo
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Armando
authors.affiliation: Center for Rare Diseases, Department of Pediatrics, Polo Salute Donna e Bambino, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Perrino
authors.affiliation: Psychology Department, University of Bologna, Bologna, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Mandolesi
authors.affiliation: Institute of Ophthalmology, Catholic University, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Salerni
authors.affiliation: Ophthalmology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Buzzonetti
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.affiliation: Center for Rare Diseases, Department of Pediatrics, Polo Salute Donna e Bambino, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Zampino
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Tartaglia
authors.affiliation: Psychology Department, University of Bologna, Bologna, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Benassi
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Vicari
authors.affiliation: Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: P
authors.identifier: 0000-0003-2197-9417
authors.initials: P
authors.lastname: Alfieri
mesh_terms: D058165:22q11 Deletion Syndrome / Q000503:physiopathology*; D001921:Brain / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000503:physiopathology*; D014796:Visual Perception
keywords: Developmental disorders; dorsal stream; form coherence; genetic syndromes; genotype; intellectual disability; motion coherence; phenotype; ventral stream; visual-perceptual abilities