title: Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
abstract: 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.
authors.affiliation: Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund St, Suite 1325, Houston, TX, 77030, USA.
authors.forename: Emeline
authors.initials: E
authors.lastname: Crutcher
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund St, Suite 1325, Houston, TX, 77030, USA.
authors.forename: May
authors.initials: M
authors.lastname: Ali
authors.affiliation: Alzheimer Center, VU Medical Center, Amsterdam, The Netherlands.
authors.forename: John
authors.initials: J
authors.lastname: Harrison
authors.affiliation: Novartis Pharmaceutical Corporation, Basel, Switzerland.
authors.forename: Judit
authors.initials: J
authors.lastname: Sovago
authors.affiliation: Novartis Pharmaceutical Corporation, Basel, Switzerland.|McGill University, Montreal, Canada.
authors.forename: Baltazar
authors.initials: B
authors.lastname: Gomez-Mancilla
authors.affiliation: Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. schaaf@bcm.edu.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. schaaf@bcm.edu.|Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund St, Suite 1325, Houston, TX, 77030, USA. schaaf@bcm.edu.
authors.forename: Christian P
authors.identifier: http://orcid.org/0000-0002-2148-7490
authors.initials: CP
authors.lastname: Schaaf
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics* / Q000523:psychology; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000523:psychology*; D002884:Chromosomes, Human, Pair 15; D003071:Cognition / Q000502:physiology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000523:psychology*; D008297:Male; D009483:Neuropsychological Tests; D012640:Seizures / Q000523:psychology*
keywords: Autism; Cognitive function; Cognitive tests; Intellectual disability; Neuropsychiatric disease