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.

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 Early Identification of Fragile X Syndrome through Expanded Newborn Screening

2019 ◽  
Vol 9 (1) ◽  
pp. 4 ◽  
Author(s):  
Katherine C. Okoniewski ◽  
Anne C. Wheeler ◽  
Stacey Lee ◽  
Beth Boyea ◽  
Melissa Raspa ◽  
...  
Keyword(s):  
North Carolina ◽  
Newborn Screening ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Pilot Studies ◽  
The Past ◽  
Innovative Program ◽  
Expanded Newborn Screening ◽  
Age Of Diagnosis

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

Introduction and Commentary

1983 ◽  
Vol 6 (1) ◽  
pp. 40-42 ◽  
Author(s):  
Jim Leigh
Keyword(s):  
Learning Disabilities ◽  
Learning Disability ◽  
Liaison Committee ◽  
The Past ◽  
National Joint Committee

In response to the large number of requests from CLD members for information concerning the National Joint Committee on Learning Disabilities (NJCLD), the Learning Disability Quarterly is publishing the four position papers prepared by the NJCLD during the past two years. As Chairperson of the CLD National Liaison Committee, Dr. Jim Leigh has represented CLD on the Joint Committee for three years by serving on the NJCLD's writing subcommittee which develops the initial drafts of position papers for consideration by the entire committee. Other CLD representatives who contributed to the development of one or more of the position papers include Drs. Donald Hammill, Stephen Larsen, and Gaye McNutt. The following introduction and commentary by Jim Leigh contains a description of the objectives and operating procedures of the NJCLD, in addition to a recommendation for use of the position papers.

scholarly journals Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing

2018 ◽  
Vol 476 ◽  
pp. 167-172 ◽  
Author(s):  
Gabriella Esposito ◽  
Maria Roberta Tremolaterra ◽  
Maria Savarese ◽  
Michele Spiniello ◽  
Maria Pia Patrizio ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Fragile X Syndrome ◽  
X Chromosome ◽  
Fragile X

scholarly journals Fragile X syndrome and fragile X-associated disorders

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2112 ◽  
Author(s):  
Akash Rajaratnam ◽  
Jasdeep Shergill ◽  
Maria Salcedo-Arellano ◽  
Wilmar Saldarriaga ◽  
Xianlai Duan ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Protein Product ◽  
Social Deficits ◽  
Synaptic Connections ◽  
Ovarian Insufficiency ◽  
The Past ◽  
Ataxia Syndrome ◽  
Physical Features ◽  
Psychiatric Problems

Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.

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
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