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Berry-Kravis, Elizabeth; Sumis, Allison; Kim, Ok-Kyung; Lara, Rebecca; Wuu, Joanne – Journal of Autism and Developmental Disorders, 2008
Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test-retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an…
Descriptors: Genetic Disorders, Mental Retardation, Measures (Individuals), Outcomes of Treatment
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Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P. – Developmental Disabilities Research Reviews, 2009
Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…
Descriptors: Genetic Disorders, Males, Sex, Genetics