Rare Genetic Diseases in Behavioral Health: A Comprehensive Review of Therapeutic Strategies and Diagnostic Delay for Childhood Through Adulthood With Paired Economic Impact Analysis

Abstract excerpt

<title>Abstract</title> <p>Rare genetic diseases (RDs) with primary neuropsychiatric symptoms pose unique challenges for diagnosis and management. While the majority of these RDs have neuropsychiatric symptoms that are secondary to the RD, a subset present with primary neuropsychiatric symptoms directly linked to their underlying pathophysiology. This subset has significant unmet medical need with delayed diagnos...

Topics

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• Genetic Diseases, Inborn
• Genetic Predisposition to Disease
• Genetic Testing
• High-Throughput Nucleotide Sequencing
• Mental Disorders
• Neurodevelopmental Disorders
• Phenotype
• Prevalence

Identifiers and source

Literature Corpus work

300f7980-146e-5ecd-9c56-fdc651b23afa

DOI

10.21203/rs.3.rs-5517122/v1