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Evaluating The Current Diagnostic Criteria for Phelan-McDermid Syndrome: Psychiatric Comorbidities

Boley, Georgia (2022) Evaluating The Current Diagnostic Criteria for Phelan-McDermid Syndrome: Psychiatric Comorbidities. Master Essay, University of Pittsburgh.

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Phelan-McDermid syndrome is a rare genetic disorder with a noticeable sub-population experiencing psychiatric comorbidities. Diagnosis is ad hoc, and the current literature does not include psychiatric criteria as a clinical feature. This can leave individuals, caretakers, and family members unequipped with the tools and resources for optimal health outcomes. By investigating over 130 published case reports of Phelan-McDermid syndrome, cross-referenced with bipolar, catatonia, and depression, 83 reported one or more psychiatric comorbidity. This observation of psychiatric comorbidity is also made with other microdeletion disorders. This essay emphasizes the public health importance of continued research on the underlying genetic variation and associated metabolic pathways in the diverse phenotypes of psychiatric disorders. There continues to be overwhelming evidence highlighting the link between an individual's genetic makeup and their psychiatric phenotype. The diagnostic criteria for Phelan-McDermid syndrome and other microdeletion disorders should be scrutinized to ensure that the entirety of the population is represented.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Boley, Georgiageorgia.b@pitt.eduGCB26
ContributionContributors NameEmailPitt UsernameORCID
Thesis advisorFinegold, Daviddnf@pitt.edudnfUNSPECIFIED
Committee MemberPan, Lisalisapanmd@gmail.comUNSPECIFIEDUNSPECIFIED
Committee MemberChernus, Jonjonchernus@pitt.edujonchernusUNSPECIFIED
Date: 16 May 2022
Date Type: Completion
Submission Date: 28 April 2022
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 61
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Public Health Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Uncontrolled Keywords: Phelan-McDermid, Psychiatric, Catatonia, Bipolar, Depression, Diagnostics
Date Deposited: 16 May 2022 19:30
Last Modified: 16 May 2022 19:30


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