title: Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.
abstract: Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development) and adaptive behavior. Previous pharmacological studies in this population have been limited by a lack of appropriate endpoints that accurately measured change in cognitive and functional abilities. Therefore, the current longitudinal observational study assessed the suitability and reliability of existing cognitive scales to determine which tools would be the most effective in future interventional clinical studies. Subtests of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), Cambridge Neuropsychological Test Automated Battery (CANTAB), and Clinical Evaluation of Language Fundamentals-Preschool-2 (CELF-P-2), and the Observer Memory Questionnaire-Parent Form (OMQ-PF), Behavior Rating Inventory of Executive Function®-Preschool Version (BRIEF-P) and Leiter International Performance Scale-Revised were assessed. The results reported here have contributed to the optimization of trial design and endpoint selection for the Phase 2 study of a new selective negative allosteric modulator of the GABAA receptor α5-subtype (Basmisanil), and can be applied to other studies in the DS population.
authors.affiliation: F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
authors.forename: Xavier
authors.initials: X
authors.lastname: Liogier d'Ardhuy
authors.affiliation: Department of Psychology, University of Arizona Tucson, AZ, USA.
authors.forename: Jamie O
authors.initials: JO
authors.lastname: Edgin
authors.affiliation: Research Department, Institut Jérôme Lejeune Paris, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Bouis
authors.affiliation: Cellular and Systems Neurobiology Research Group, Human Pharmacology and Clinical Neurosciences Research Group-Neurosciences Program, Systems Biology Program, Centre for Genomic Regulation, Hospital del Mar Medical Research Institute Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: de Sola
authors.affiliation: F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
authors.forename: Celia
authors.initials: C
authors.lastname: Goeldner
authors.affiliation: Medical Genetics, Duke University Medical Center Durham, NC, USA.
authors.forename: Priya
authors.initials: P
authors.lastname: Kishnani
authors.affiliation: F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
authors.forename: Jana
authors.initials: J
authors.lastname: Nöldeke
authors.affiliation: Department of Pediatrics, University of Arizona Tucson, AZ, USA.
authors.forename: Sydney
authors.initials: S
authors.lastname: Rice
authors.affiliation: Research Department, Institut Jérôme Lejeune Paris, France.
authors.forename: Silvia
authors.initials: S
authors.lastname: Sacco
authors.affiliation: F. Hoffmann-La Roche, Biostatistics Basel, Switzerland.
authors.forename: Lisa
authors.initials: L
authors.lastname: Squassante
authors.affiliation: Department of Pediatrics, Duke University Medical Center Durham, NC, USA.
authors.forename: Gail
authors.initials: G
authors.lastname: Spiridigliozzi
authors.affiliation: F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center New York New York, NY, USA.
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.affiliation: Formerly of Duke University Medical Center Durham, NC, USA.
authors.forename: James
authors.initials: J
authors.lastname: Heller
authors.affiliation: F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Rare Diseases, Roche Innovation Center Basel Basel, Switzerland.
authors.forename: Omar
authors.initials: O
authors.lastname: Khwaja
keywords: Down syndrome; clinical trial; cognition; language; outcome measure