Tetrasomy 18p: Report of cognitive and behavioral characteristics

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 inte...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-07, Vol.167A (7), p.1474-1482
Main Authors: O'Donnell, Louise, Soileau, Bridgette T., Sebold, Courtney, Gelfond, Jonathan, Hale, Daniel E., Cody, Jannine D.
Format: Article
Language:English
Subjects:
Adaptation, Psychological - physiology
Adolescent
Aneuploidy
Child
Child, Preschool
chromosome 18
chromosome abnormality
Chromosomes, Human, Pair 18 - genetics
Chromosomes, Human, Pair 18 - physiology
Cognition Disorders - physiopathology
Comparative Genomic Hybridization
Executive Function - physiology
Female
Humans
Infant
isochromosome 18p
Longitudinal Studies
Male
Phenotype
Surveys and Questionnaires
Young Adult
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Summary: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. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37036