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PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU (ETPKU) nonetheless experience significant sequelae, including impaired working memory and increased risk for anxiety problems. Past research with other clinical populations (e.g., generalized anxiety disorder) suggests that the two phenomena may be linked, with increased anxiety contributing to poorer WM performance. Currently we propose to initiate an exciting new line of research examining the potential relationship between anxiety and WM in ETPKU. The proposed study will also apply remote neuropsychological performance-based assessment to the study of ETPKU and thus overcoming the geographical limitations/challenges associated with recruitment of participants with this rare disease.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individuals with PKU | Adults with early-treated PKU |
| |
| Individuals without PKU | Adults without PKU who are otherwise healthy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nointervention | Other | Nointervention |
|
| Measure | Description | Time Frame |
|---|---|---|
| Working Memory performance | Composite score based on multiple working memory-related CANTAB tests | 2.5-3 hrs total over approx 1-3 weeks |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals age 18-40 years old with and without PKU
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| Name | Affiliation | Role |
|---|---|---|
| Shawn Christ, PhD | University of Missouri-Columbia | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Emory University | Atlanta | Georgia | 30322 | United States | ||
| University of Missouri |
To be determined
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| ID | Term |
|---|---|
| D010661 | Phenylketonurias |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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Blood phe levels
| Columbia |
| Missouri |
| 65211 |
| United States |
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |