Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals

• Published in: Genes Vol. 13; no. 2; p. 356
• Main Authors: Fetta, Anna, Soliani, Luca, Trevisan, Alessia, Pugliano, Rosa, Ricci, Emilia, Di Pisa, Veronica, Pignataro, Veronica, Angotti, Marida, Rocca, Alessandro, Salce, Bianca, Mancardi, Maria Margherita, Giordano, Lucio, Pruna, Dario, Parmeggiani, Antonia, Cordelli, Duccio Maria
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 16.02.2022; MDPI
• Subjects: Ability tests; Age; Aggressive behavior; Auditory stimuli; Autism; children; cognition; Cognitive ability; Down syndrome; Hypersensitivity; Intellectual disabilities; Neuropsychology; Patients; phenotype; Phenotypes; prospective studies; Questionnaires; Rehabilitation; Self destructive behavior; Self-injury; sensory evaluation; Sensory perception; Sleep; Stereotyped behavior; therapeutics; vision; PKS; Bayley-3; Sensory Profile 2; tetrasomy 12p; Vineland-II; stereotypies

Background: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister–Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of these patients and to evaluate possible correlations between the different a...