Mathematics learning disability in girls with Turner syndrome or fragile X syndrome

Objective. To expand on previous reports of mathematics difficulty in girls with Turner syndrome (TS). Methods. Mathematics performance was examined by evaluating the types of errors made on mathematics achievement subtests by 29 girls with TS, 26 girls with fragile X syndrome (another genetic condition associated with mathematics difficulty), and 41 girls with neither disorder. Correlations between mathematics achievement scores and measures of IQ, attention, and visuospatial skills were also examined. Results. Relatively low mathematics achievement was evident in girls with TS before 10 years of age, and a higher percentage of girls with TS made operation (57%) and alignment (48%) errors on a mathematics calculations test than did girls with fragile X syndrome (19% and 14%, respectively). No group differences were found for procedural or multiplication table errors. Girls with TS attempted more “unfamiliar” problems than did girls with fragile X syndrome or girls in the comparison group. Mathematics achievement scores in girls with TS were positively correlated with Judgment of Line Orientation and Wechsler Intelligence Scale for Children–Revised Third Factor scores; these correlations differed from those in the other groups. Conclusions. The qualitative group differences observed further support the concept of specificity of the TS phenotype and illustrate the importance of a process approach to assessment.

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Fragile X syndrome

InnovAiT Education and inspiration for general practice ◽

10.1177/1755738020958183 ◽

2020 ◽

Vol 13 (12) ◽

pp. 712-716

Author(s):

Rebecca Dunphy

Keyword(s):

Primary Care ◽

Learning Disability ◽

Fragile X Syndrome ◽

Clinical Features ◽

Neurodevelopmental Disorders ◽

Fragile X ◽

Healthcare Services ◽

Diagnosis And Management ◽

Genetic Causes

Fragile X syndrome is one of the most common genetic causes of learning disability. Patients with this and other neurodevelopmental disorders will often present to primary care before a diagnosis is made, and this can be challenging and worrying for patients and other carers. These patients may face a number of barriers in accessing healthcare services including communication, behavioural and sensory difficulties. It may be difficult to understand whether symptoms are part of their condition or because of a comorbidity that needs to be addressed. Input from families and carers can be vital in helping with diagnosis. This article aims to outline the key clinical features, diagnosis and management of this syndrome.

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Scope for more genetic testing in learning disability

The British Journal of Psychiatry ◽

10.1192/bjp.189.2.99 ◽

2006 ◽

Vol 189 (2) ◽

pp. 99-101 ◽

Cited By ~ 4

Author(s):

B. A. Robertshaw ◽

J. MacPherson

Keyword(s):

Learning Disabilities ◽

Genetic Testing ◽

Learning Disability ◽

Fragile X Syndrome ◽

Fragile X ◽

Genetic Defect ◽

Linked Learning ◽

The Past ◽

Gene Defects ◽

First Time

SummaryThere have been major advances in the past few years in our understanding of the X-linked learning disabilities. The most common of these is the fragile-X syndrome, but the number of other gene defects that are now recognised to be linked with learning disability is increasing year on year. We describe one family displaying a rare X-linked abnormality. Repeat genetic testing was requested for a family member with mild learning disability when, following chromosomal analysis for her brother, it became known that he had a genetic defect. The genetic defect 46,Xdup(X) (p22.13 p22.31) was identified. To our knowledge this is the first time this precise configuration has been demonstrated. We conclude that genetic testing for individuals with learning disability is worthwhile, even when there may be only a low index of suspicion.

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