Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome

Giuseppe Zampino, Dario Pitocco, Francesca Perrino, Annabella Salerni, G. Piccini, D. Menghini, A. D'Andrea, C. Caciolo, M. Pontillo, M. Armando, L. Mandolesi, L. Buzzonetti, M. C. Digilio, M. Tartaglia, M. Benassi, S. Vicari, P. Alfieri

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

2 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)627-634
Numero di pagine8
RivistaGENES BRAIN AND BEHAVIOR
Volume16
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • 22q11 Deletion Syndrome
  • Behavioral Neuroscience
  • Brain
  • Child
  • Developmental disorders
  • Female
  • Genetics
  • Humans
  • Male
  • Neurology
  • Noonan Syndrome
  • Visual Perception
  • dorsal stream
  • form coherence
  • genetic syndromes
  • genotype
  • intellectual disability
  • motion coherence
  • phenotype
  • ventral stream
  • visual-perceptual abilities

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