Official websites use. Share sensitive information only on official, secure websites. Author information: Conceptualization: B. K; Writing-original draft: B. Recurrent pathogenic copy number variants pCNVs have large-effect impacts on brain function and represent important etiologies of neurodevelopmental psychiatric disorders NPDs , including autism and schizophrenia.
Patterns of health care utilization in adults with pCNVs have gone largely unstudied and are likely to differ in significant ways from those of children. We also evaluated 3 quantitative health care utilization measures outpatient, inpatient, and emergency department ED visits in both groups.
Adults with pCNVs They had significantly higher rates of several chronic diseases, including diabetes These findings highlight the potential for genetic information — specifically, pCNVs - to inform the study of health care outcomes and utilization in adults. If, as our findings suggest, adults with pCNVs have poorer health and require disproportionate health care resources, early genetic diagnosis paired with patient-centered interventions may help to anticipate problems, improve outcomes, and reduce the associated economic burden.
Rare, pathogenic copy number variants pCNVs of large effect size represent important genetic etiologies of autism spectrum disorder ASD , intellectual disability ID , schizophrenia SCZ , epilepsy, and other neurodevelopmental psychiatric disorders NPDs 1 — 3.
Dozens of NPD-associated pCNVs are now known, collectively contributing to a significant subset of clinical brain disorders, with shared underpinnings in known biochemical and neurobiological pathways. As such, the study of rare pCNVs has important relevance for all NPD research and may ultimately advance precision medicine efforts toward the prevention and treatment of mental health disorders.
