title: Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report.
abstract: Previously, researchers reported molecular-neurobehavioral or molecular-cognitive associations in individuals with fra(X) (fragile X) mutation. However, not all investigators have noted molecular-behavioral relationships. Consequently, we examined prospectively 30 fra(X) males age 3-15 years from four testing sites to determine whether there was a relationship between mutation size and degree of either cognitive or adaptive behavior deficit. To measure cognitive abilities, all individuals were administered the Stanford-Binet (4th edition) IQ test. To evaluate adaptive behavior (DQ) skills, all individuals were assessed using the Vineland Adaptive Behavior Scale. To determine fra(X) status, genomic DNA from all individuals was extracted and digested with EcoRI and EagI restriction enzymes. Southern blots were prepared and hybridized with the pE5.1 probe. The Pearson correlation coefficient between full mutation size and composite IQ score revealed a nonsignificant, near-zero association (r = 0.06; P > .76). The Pearson coefficient between mutation size and DQ also showed a nonsignificant, near-zero association (r = 0.06; P > .73). We conclude that while fra(X) mutation produces cognitive and behavior deficits in males who inherit the defective gene, there is no relationship between mutation size and degree of deficit.
authors.affiliation: SUNY/Health Science Center, Brooklyn, USA.
authors.forename: G S
authors.initials: GS
authors.lastname: Fisch
authors.forename: N
authors.initials: N
authors.lastname: Carpenter
authors.forename: P N
authors.initials: PN
authors.lastname: Howard-Peebles
authors.forename: A
authors.initials: A
authors.lastname: Maddalena
authors.forename: R
authors.initials: R
authors.lastname: Simensen
authors.forename: J
authors.initials: J
authors.lastname: Tarleton
authors.forename: C
authors.initials: C
authors.lastname: Julien-Inalsingh
authors.forename: M
authors.initials: M
authors.lastname: Chalifoux
authors.forename: J J
authors.initials: JJ
authors.lastname: Holden
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005600:Fragile X Syndrome / Q000235:genetics* / Q000523:psychology*; D006801:Humans; D007360:Intelligence; D008297:Male; D009154:Mutation; D010555:Personality Inventory; D011446:Prospective Studies; D015183:Restriction Mapping; D013195:Stanford-Binet Test