Defining the Social Phenotype in Williams Syndrome: A Model for Linking Gene, the Brain, and Behavior  

Oleh:

Jarvinen-Pasleya, Anna ; Bellugia, Ursula ; Reillya, Judy ; MILLS, Debra L ; Galaburda, Albert ; Reiss, Allan L. ; Korenberg, Julie R

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Development and Psychopathology vol. 20 no. 1 (2008), page 1-35.
Topik: Genetic Basis; Social Phenotype
Fulltext: DD21V20N1P1.pdf (1.03MB)

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Perpustakaan Pusat (Semanggi) Nomor Panggil: DD21.14 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Research into phenotype–genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene–brain–behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive–behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive–behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology.

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