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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Príomhchruthaitheoirí:	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
Formáid:	Artigo
Teanga:	Inglês
Foilsithe / Cruthaithe:	BMC 2025-08-01
Sraith:	Orphanet Journal of Rare Diseases
Ábhair:	Mental health Addiction Behavioral health Psychiatric Rare disease Orphan drug
Rochtain ar líne:	https://doi.org/10.1186/s13023-025-03941-8
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