Genetics and mathematics: FMR1 premutation female carriers

Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within spec...

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Bibliographic Details
Published in:Neuropsychologia 2012-12, Vol.50 (14), p.3757-3763
Main Authors: Semenza, Carlo, Bonollo, Sabrina, Polli, Roberta, Busana, Cristina, Pignatti, Riccardo, Iuculano, Teresa, Maria Laverda, Anna, Priftis, Konstantinos, Murgia, Alessandra
Format: Article
Language:English
Subjects:
Adult
Arithmetic
Calculation
Case-Control Studies
Cognition Disorders - etiology
Cognition Disorders - genetics
Comprehension - physiology
Computation
Female
Females
Fragile X Mental Retardation Protein - genetics
Fragile X permutation
Fragile X Syndrome - complications
Fragile X Syndrome - genetics
Genetic Testing
Genetics
Humanities and Social Sciences
Humans
Mathematics
Mathematics Skills
Middle Aged
Mutation - genetics
Neuropsychological Tests
Numbers
Photic Stimulation
Problem Solving - physiology
Visuo-spatial system
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Summary:Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within specific mathematical skills. In fact, these batteries do not clearly distinguish between specific mathematical abilities and are therefore likely to provide only a generic indication of a deficit. Mathematical skills in a group of females with FMR1 premutation were investigated through the use of an extensive, theoretically grounded battery of mathematical tasks, encompassing counting, number comprehension, numerical transcoding, calculation skills and arithmetic principles. Moreover, the mental representation of numbers was assessed by studying the Spatial Numerical Association of Response Codes (SNARC) effect and mental number line (MNL) bisection. The FMR1 premutation group (N=18) comprised 29–50 years old women of normal intelligence, who were individually matched on age, sex and education to a group of healthy participants (N=18). Specific yet subtle weaknesses were detected on processes of basic number understanding such as dealing with analogue scales and certain aspects of number transcoding, in the presence of otherwise spared calculation abilities. ► Neuropsychological investigation of mathematical skills in FMR1 premutation carriers. ► FMR1 premutation carriers show deficits in basic number processing. ► FMR1 premutation carriers present spared calculation abilities.
ISSN:0028-3932
1873-3514
DOI:10.1016/j.neuropsychologia.2012.10.021