Elizabeth I. Pierpont|Susan Ellis Weismer|Amy Roberts|Erica Tworog?Dube|Mary Ella Pierpont|Nancy J. Mendelsohn|Mark S. Seidenberg
The Language Phenotype of Children and Adolescents With Noonan Syndrome
University of Wisconsin–Madison|Google (United States)|University of Wisconsin–Madison|Google (United States)|Boston Children's Museum|Google (United States)|Brigham and Women's Hospital|Google (United States)|Children’s Minnesota - St. Paul Hospital|University of Minnesota|Google (United States)|Children’s Minnesota - St. Paul Hospital|University of Minnesota|Google (United States)|University of Wisconsin–Madison|Google (United States)
purpose study presents analysis language skills individuals noonan syndrome ns autosomal dominant genetic disorder investigated whether language impairments affecting individuals arise deficits specifically within linguistic system whether associated cognitive perceptual motor factors comparisons language abilities among different ns genotypes also conducted method sixtysix children adolescents ns evaluated using standardized speech language literacy assessments additional cognitive perceptual motor tasks administered examine relation factors language development genotype noted underwent genetic testing results language impairments frequent ns general population associated higher risk reading spelling difficulties language significantly correlated nonverbal cognition hearing ability articulation motor dexterity phonological memory genotype analyses suggest higher performance sos1 positive ptpn11 positive individuals language tasks largely mediated differences cognitive ability conclusions results indicate variation language skill ns closely related cognitive perceptual motor factors appear specific aspects language selectively affected syndrome