Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis

Abstract 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 presents with primary neuropsychiatric symptoms directly linked to th...

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Bibliographic Details
Main Authors: Sheldon R. Garrison, Isaac J. Siegel, Christopher R. Takala, Sarah L. Vaithilingam, Gene W. Yang, Anthony W. Zoghbi, Madeline M. Hartig, Sreya Vadapalli, Margaret E. Anderson
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mental health
Addiction
Behavioral health
Psychiatric
Rare disease
Orphan drug
Online Access:https://doi.org/10.1186/s13023-025-03941-8
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https://doi.org/10.1186/s13023-025-03941-8

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