Medical Multimorbidity in Patients With Treatment-Resistant Psychosis and Rare Copy Number Variants: A Retrospective Case Series of 24 Patients

Twenty-four psychiatric inpatients with treatment-resistant psychosis were identified as carriers of neurodevelopmental disorder (NDD) copy number variants (CNVs) as part of a larger Pennsylvania State Hospital genomics study. Comprehensive life course phenotyping was performed through review of medical records, specialized neurobehavioral evaluation, and synthesis of data using the Human Phenotype Ontology. Cardiovascular disorders were present in 96% of patients and motor disorders in 92%. All patients had multiple organ system involvement, and most organ systems (12/17 systems) were affected in 50% or more of patients, culminating in a high degree of individual-level multimorbidity. This descriptive case series supports a complex and multidimensional course of illness.

American Journal of Medical Genetics Part A