The prevalence of Fragile-X syndrome in an institution for people with learning disability

1997 ◽  
Vol 7 (3) ◽  
pp. 115-120 ◽  
Author(s):  
J. OʼDwyer ◽  
J. Holmes ◽  
R. Mueller ◽  
G. Taylor
Keyword(s):  
Learning Disability ◽  
Fragile X Syndrome ◽  
Fragile X

Fragile X syndrome

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.

scholarly journals Scope for more genetic testing in learning disability

2006 ◽  
Vol 189 (2) ◽  
pp. 99-101 ◽  
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.

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

2006 ◽  
Vol 61 (2) ◽  
pp. 195-210 ◽  
Author(s):  
Melissa M. Murphy ◽  
Michèle M.M. Mazzocco ◽  
Gwendolyn Gerner ◽  
Anne E. Henry
Keyword(s):  
Learning Disability ◽  
Turner Syndrome ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Mathematics Learning

Living with Fragile X Syndrome

2017 ◽  
Author(s):  
◽  
Rebecca Schira ◽  
Samantha Alexander ◽  
Noelani Brisbane ◽  
Kaitlyn Williams
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X

Fragile X Syndrome and Family Occupations

2019 ◽  
Author(s):  
Decerie Mendoza ◽  
Tracy Ye ◽  
Martina Dualan ◽  
Elena Javier
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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