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Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome


15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford–Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten individuals with 15q13.3 microdeletion syndrome (14–18 years of age), and the results were analyzed to determine feasibility of use, potential for improvement, and internal consistency. It was determined that the KiTAP, CogState, and Stanford–Binet are valid tests of cognitive function in 15q13.3 microdeletion patients. Therefore, these tests may be considered for use as objective outcome measures in future clinical trials, assessing change in cognitive function over a period of pharmacological treatment.

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We are indebted to the patients and their families for their willingness to participate in our study. This work was supported in part by the Doris Duke Charitable Foundation Grant # 2011034 and in part as an Investigator Initiated Research Protocol by Novartis Pharmaceuticals Corporation. The project was supported in part by IDDRC Grant Number 1U54 HD083092 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Cores: Tissue culture core, translational core. CS is generously supported by the Joan and Stanford Alexander Family.


John Harrison has previously received consultancy payments from the Novartis Pharmaceutical Corporation.

Author Contributions

All listed authors have made contributions to the work discussed in this article. All authors have reviewed the completed manuscript, and given feedback, resulting in the final submitted product. Specific contributions of each author are listed below. Emeline Crutcher: Analyzed data collected during the study and wrote the manuscript discussing the results. May Ali: Clinical research coordinator—established and maintained contact with the patients’ families throughout the study to coordinate travel arrangements and clinical visits for administration of each test. John Harrison: Assisted with study design, and provided valuable input throughout the data analysis process. Judit Sovago: Assisted with study design. Baltazar Gomez-Mancilla: Assisted with study design. Christian P. Schaaf: Primary investigator for this study. Planned, designed, and conducted the study.

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Correspondence to Christian P. Schaaf.

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Crutcher, E., Ali, M., Harrison, J. et al. Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. J Autism Dev Disord 46, 1455–1463 (2016).

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  • Neuropsychiatric disease
  • Autism
  • Intellectual disability
  • Cognitive tests
  • Cognitive function