title: Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses.
abstract: Collecting phenotypic data necessary for genetic analyses of neuropsychiatric disorders is time consuming and costly. Development of web-based phenotype assessments would greatly improve the efficiency and cost-effectiveness of genetic research. However, evaluating the reliability of this approach compared to standard, in-depth clinical interviews is essential. The current study replicates and extends a preliminary report on the utility of a web-based screen for Tourette Syndrome (TS) and common comorbid diagnoses (obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD)). A subset of individuals who completed a web-based phenotyping assessment for a TS genetic study was invited to participate in semi-structured diagnostic clinical interviews. The data from these interviews were used to determine participants' diagnostic status for TS, OCD, and ADHD using best estimate procedures, which then served as the gold standard to compare diagnoses assigned using web-based screen data. The results show high rates of agreement for TS. Kappas for OCD and ADHD diagnoses were also high and together demonstrate the utility of this self-report data in comparison previous diagnoses from clinicians and dimensional assessment methods.
authors.affiliation: Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA.
authors.forename: Sabrina M
authors.initials: SM
authors.lastname: Darrow
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Illmann
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA.
authors.forename: Caitlin
authors.initials: C
authors.lastname: Gauvin
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Osiecki
authors.affiliation: Martinez Outpatient Clinic and Community Living Center, Northern California VA Health Care System, 150 Muir Road, Martinez, CA 94553, USA.
authors.forename: Crystelle A
authors.initials: CA
authors.lastname: Egan
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA.
authors.forename: Erica
authors.initials: E
authors.lastname: Greenberg
authors.affiliation: Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA; School of Nursing, University of California San Francisco, 2 Koret Way #N-319X, San Francisco, CA 94143, USA; Department of Nursing and Health Sciences, California State University East Bay 25800 Carlos Bee Blvd., Hayward, CA 94542, USA.
authors.forename: Monika
authors.initials: M
authors.lastname: Eckfield
authors.affiliation: Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA.
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hirschtritt
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA.
authors.forename: David L
authors.initials: DL
authors.lastname: Pauls
authors.affiliation: Children's Mercy Hospitals & Clinics, University of Missouri, Kansas City School of Medicine, 2401 Gilham Road, Kansas City, MO 64108, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Batterson
authors.affiliation: Milton S. Hershey Medical Center, College of Medicine, Pennsylvania State, 500 University Dr., Hershey, PA 17033, USA.
authors.forename: Cheston M
authors.initials: CM
authors.lastname: Berlin
authors.affiliation: UF Center for Movement Disorders and Neurorestoration, Department of Neurology, College of Medicine, University of Florida, 3450 Hull Road, Gainesville, FL 32607, USA.
authors.forename: Irene A
authors.initials: IA
authors.lastname: Malaty
authors.affiliation: Department of Psychology, Texas A&M University, 4235 TAMU, College Station, TX 77843, USA.
authors.forename: Douglas W
authors.initials: DW
authors.lastname: Woods
authors.affiliation: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge St., Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, 415 Main St., Cambridge, MA 02142, USA; Division of Cognitive and Behavioral Neurology, Brigham and Women's Hospital, 75 Francis St., Boston, MA 02115, USA; Department of Neurology, Massachusetts General Hospital, 55 Fruit St., Boston, MA 02114, USA.
authors.forename: Jeremiah M
authors.initials: JM
authors.lastname: Scharf
authors.affiliation: Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA. Electronic address: cmathews@lppi.ucsf.edu.
authors.forename: Carol A
authors.initials: CA
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D002648:Child; D015897:Comorbidity; D005260:Female; D005820:Genetic Testing; D006801:Humans; D020407:Internet; D007406:Interview, Psychological; D008297:Male; D008403:Mass Screening; D009771:Obsessive-Compulsive Disorder / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D010641:Phenotype; D015203:Reproducibility of Results; D005879:Tourette Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D055815:Young Adult
keywords: Attention deficit/hyperactivity disorder; Obsessive–compulsive disorder; Tourette Syndrome; Web-based assessment