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Genetic testing of adults with intellectual disability

  • Jana de Villiers (a1) and Mary Porteous (a2)
Abstract
Method

Patients known to learning disability services in two health boards in southeast Scotland were cross-matched with the patients tested at the Western General Hospital in Edinburgh. Those with a positive genetic diagnosis were identified. Semi-structured interviews were conducted with senior learning disability psychiatrists and clinical genetics consultants.

Results

Of the 3323 patients with intellectual disability across both health boards, 41% have had genetic tests and 6% have an identified genetic abnormality as the cause for their intellectual disability. Of the 1349 patients who have been tested, a genetic abnormality was found in 14%. Psychiatrists named several benefits to genetic testing, but they also highlighted a number of non-medical reasons for not testing adults with intellectual disability.

Clinical implications

Identifying genetic aetiology in intellectual disability has a number of benefits. Our study would indicate that genetic diagnoses are being missed due to a lack of genetic testing in this patient group. Adult learning disability services need to consider increasing genetic testing.

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Copyright
This is an Open Access article, distributed under the terms of the Creative Commons Attribution (CC-BY) license (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Corresponding author
Jana de Villiers (janadevilliers@nhs.net)
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Declaration of interest

None.

Footnotes
References
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BJPsych Bulletin
  • ISSN: 1758-3209
  • EISSN: 1758-3217
  • URL: /core/journals/bjpsych-bulletin
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Genetic testing of adults with intellectual disability

  • Jana de Villiers (a1) and Mary Porteous (a2)
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