Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice

INTRODUCTION: 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. OBJECTIVES: 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. METHODS: 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”. RESULTS: 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. CONCLUSIONS: 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. DISCLOSURE: No significant relationships.