title: A case study of brain morphometry in triplets discordant for Down syndrome.
abstract: Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n = 4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings.
authors.affiliation: Section on Brain Imaging, Child Psychiatry Branch, National Institute of Mental Health, NIH, Bethesda, Maryland.
authors.forename: Elizabeth I
authors.initials: EI
authors.lastname: Adeyemi
authors.forename: Jay N
authors.initials: JN
authors.lastname: Giedd
authors.forename: Nancy Raitano
authors.initials: NR
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000000981:diagnostic imaging* / Q000503:physiopathology; D004314:Down Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D011859:Radiography; D035781:Siblings
keywords: cortical surface area; cortical thickness; down syndrome; magnetic resonance imaging; trisomy 21