Structural variations of DNA, such as copy number variations (CNVs), are important contributors to risk for human diseases. Several CNVs have been associated with an increased risk of early-onset neurodevelopmental disorders (NDD), adult-onset psychiatry disorders and physical comorbidities. While in Pediatrics the microarray is the first-line genetic analysis technique in the study of child onset NDD, its use in psychiatry care of young/adult onset NDD has been limited to research purposes.

Review of the diagnostic yield of the use of microarrays analysis in psychiatric clinical practice of severe mental disorder care in adults, according to the concept of a neurodevelopmental continuum.

An exploratory literature review on the topic in PubMed, including the terms: “copy number variants/CNVs” AND “neurodevelopmental delay/disorders, congenital anomalies/malformations, ADHD, autism/ASD, learning disabilities, epilepsy, Tourette, schizophrenia, bipolar, behaviour”.

The prevalence of carriers of pathogenic or likely pathogenic CNVs among the different NDD phenotypes investigated by microarray analysis ranged from 3-22.5%. The majority of studies in adult psychiatric populations examined schizophrenia. Intellectual disability, autism spectrum disorders, dysmorphic features and multiple NDD/psychiatric diagnoses were described as predictors of an increased diagnostic yield of microarray testing.

While CNV testing is frequent in early-onset NDD; microarray analysis has not been established in psychiatric clinical practice despite the evidence of a high prevalence of findings in adult-onset NDD. The potential benefits in the detection of CNV are associated with physical comorbidities detection, understanding of pathogenesis of disease or genetic counseling. High-quality research designs are required before a routine clinical use.

No significant relationships.