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Impact of copy number variation on human neurocognitive deficits and congenital heart defects: a systematic review

Savory, Katrina, Manivannan, Susruta, Zaben, Malik ORCID:, Uzun, Orhan and Syed, Yasir Ahmed ORCID: 2020. Impact of copy number variation on human neurocognitive deficits and congenital heart defects: a systematic review. Neuroscience and Biobehavioral Reviews 108 , pp. 83-93. 10.1016/j.neubiorev.2019.10.020

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Copy number variant (CNV) syndromes are often associated with both neurocognitive deficits (NCDs) and congenital heart defects (CHDs). Children and adults with cardiac developmental defects likely to have NCDs leading to increased risk of hospitalisation and reduce independence. To date, the association between these two phenotypes have not been explored in relation to CNV syndromes. In order to address this question, we systematically reviewed the prevalence of CHDs in a range of CNV syndromes associated with NCDs. A meta-analysis showed a relationship with the size of CNV and its association with both NCDs and CHDs, and also inheritance pattern. To our knowledge, this is the first review to establish association between NCD and CHDs in CNV patients, specifically in relation to the severity of NCD. Importantly, we found specific types of CHDs were associated with severe neurocognitive deficits. Finally, we discuss the implications of these results for patients in the clinical setting which warrants further exploration of this association in order to lead improvement in the quality of patient’s life.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Neuroscience and Mental Health Research Institute (NMHRI)
Publisher: Elsevier
ISSN: 0149-7634
Date of First Compliant Deposit: 31 October 2019
Date of Acceptance: 26 October 2019
Last Modified: 15 Jul 2024 18:09

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