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Assessment of cognitive outcome measures in teenagers with 15q13.3 microdeletion syndrome

Crutcher, Emeline , May, Ali, Harrison, John, Schaaf, Christian , Sovago, Judit and Gomez-Mancilla, Baltazar (2016) Assessment of cognitive outcome measures in teenagers with 15q13.3 microdeletion syndrome. Genetics in Medicine.


15q13.3 microdeletion syndrome causes a spectrum of neuropsychological disorders, including intellectual disability and autism. We aimed to determine if any or all of three neurocognitive tests (the KiTAP, CogState, and Stanford-Binet) were suitable for assessment of cognitive function in affected individuals.

The KiTAP, CogState, and Stanford-Binet tests were administered to ten individuals with 15q13.3 microdeletion syndrome (12-21 years of age), and the results were analyzed to determine feasibility, potential for improvement, and internal consistency.

15q13.3 microdeletion patients were able to complete the components assessed for each of the three tests. Minimal basal and ceiling effects were observed. Patients scored below the 50th percentile on the large majority of test components. Internal consistency was acceptable (≥0.7) for the components assessed.

Conclusions: The KiTAP, CogState, and Stanford-Binet are valid tests of cognitive function in 15q13.3 microdeletion patients. These tests may be considered for use as objective outcome measures in future clinical trials, assessing change in neurological function over a period of pharmacological treatment.

Item Type: Article
Date Deposited: 26 Apr 2016 23:45
Last Modified: 26 Apr 2016 23:45


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