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Updated: Aug 6, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Neurodevelopmental Impact of Copy Number Variants in Patients With Treatment-Resistant Schizophrenia
Wenxin Bian1, Rose Mary Xavier2,3,4, Tyler E Dietterich5,6
1School of Nursing, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Copy number variations (CNVs) are linked to neurodevelopmental disorders (NDDs) in individuals with treatment-resistant schizophrenia (TRS). CNV carriers showed a higher burden of NDDs, especially learning disabilities, compared to non-carriers.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Copy number variations (CNVs) significantly contribute to schizophrenia's causes and varied presentations.
- The role of CNVs in early neurodevelopment within treatment-resistant schizophrenia (TRS) requires further investigation.
Purpose of the Study:
- To explore the impact of neurodevelopmental CNVs on early development in individuals with TRS.
- To compare early neurodevelopmental disorder (NDD) phenotypes between CNV carriers and non-carriers in a TRS cohort.
Main Methods:
- A systematic, retrospective record review was performed using a case-control design.
- Cases included NDD CNV carriers (N=25) from the Pennsylvania State Hospital (PASH) cohort with treatment-resistant psychotic symptoms.
- Controls were demographically matched non-CNV individuals (N=24) from the same cohort.
Main Results:
- CNV carriers exhibited a higher total NDD burden score than non-CNV controls (p=0.03).
- Learning disabilities were significantly more common in CNV carriers (88%) versus non-CNV controls (38%) (p=0.0002).
- CNV carriers with TRS demonstrated a greater prevalence of early NDDs, particularly learning disabilities.
Conclusions:
- CNV carriers with TRS show a higher prevalence of early NDDs, notably learning disabilities.
- Further prospective research is necessary to understand the links between CNVs, neurodevelopmental phenotypes, and disease progression in TRS.
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