TY - JOUR
T1 - Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation
T2 - Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome
AU - Mazzocco, Michèle M.M.
AU - Freund, Lisa S.
AU - Baumgardner, Thomas L.
AU - Forman, Lisa
AU - Reiss, Allan L.
PY - 1995/10
Y1 - 1995/10
N2 - An extensive evaluation was conducted with 16-year-old monozygotic twins concordant for the fragile X full mutation but discordant for mental retardation. The clearly affected twin had an IQ score of 47; 77% of her neuropsychological z scores were at least 2 SDs below average. Her sister had an IQ score of 105 and average neuropsychological performance. However, each girl demonstrated relative verbal strengths and visual-spatial weaknesses. Their parents rated each girl as having significant problems with attention, conduct, anxiety-withdrawal, and hyperactivity. The girls did not rate themselves as having significant anxiety. These findings are consistent with group data on females with fragile X and demonstrate the wide range of effects associated with the fragile X full mutation. This case report implicates the importance of a psychosocial phenotype of fragile X independent of cognitive ability level.
AB - An extensive evaluation was conducted with 16-year-old monozygotic twins concordant for the fragile X full mutation but discordant for mental retardation. The clearly affected twin had an IQ score of 47; 77% of her neuropsychological z scores were at least 2 SDs below average. Her sister had an IQ score of 105 and average neuropsychological performance. However, each girl demonstrated relative verbal strengths and visual-spatial weaknesses. Their parents rated each girl as having significant problems with attention, conduct, anxiety-withdrawal, and hyperactivity. The girls did not rate themselves as having significant anxiety. These findings are consistent with group data on females with fragile X and demonstrate the wide range of effects associated with the fragile X full mutation. This case report implicates the importance of a psychosocial phenotype of fragile X independent of cognitive ability level.
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U2 - 10.1037/0894-4105.9.4.470
DO - 10.1037/0894-4105.9.4.470
M3 - Article
AN - SCOPUS:0028840859
SN - 0894-4105
VL - 9
SP - 470
EP - 480
JO - Neuropsychology
JF - Neuropsychology
IS - 4
ER -