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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| 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
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03941-8 |
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