title: Tetrasomy 18p: report of cognitive and behavioral characteristics.
abstract: Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone.
authors.affiliation: Departments of Psychiatry and Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.|Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Louise
authors.initials: L
authors.lastname: O'Donnell
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Bridgette T
authors.initials: BT
authors.lastname: Soileau
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Courtney
authors.initials: C
authors.lastname: Sebold
authors.affiliation: Departments of Epidemiology and Biostatistics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Gelfond
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Hale
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.|The Chromosome 18 Registry & Research Society, San Antonio, Texas.
authors.forename: Jannine D
authors.initials: JD
authors.lastname: Cody
mesh_terms: D000223:Adaptation, Psychological / Q000502:physiology*; D000293:Adolescent; D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics / Q000502:physiology; D003072:Cognition Disorders / Q000503:physiopathology*; D055028:Comparative Genomic Hybridization; D056344:Executive Function / Q000502:physiology*; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D010641:Phenotype; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: chromosome 18; chromosome abnormality; isochromosome 18p