Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses

Sabrina M Darrow; Cornelia Illmann; Caitlin Gauvin; Lisa Osiecki; Crystelle A Egan; Erica Greenberg; Monika Eckfield; Matthew E Hirschtritt; David L Pauls; James R Batterson; Cheston M Berlin; Irene A Malaty; Douglas W Woods; Jeremiah M Scharf; Carol A Mathews

doi:10.1016/j.psychres.2015.05.017

Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses

Psychiatry Res. 2015 Aug 30;228(3):816-25. doi: 10.1016/j.psychres.2015.05.017. Epub 2015 May 27.

Authors

Affiliations

¹ Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA.
² 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.
³ Martinez Outpatient Clinic and Community Living Center, Northern California VA Health Care System, 150 Muir Road, Martinez, CA 94553, USA.
⁴ 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.
⁵ Children's Mercy Hospitals & Clinics, University of Missouri, Kansas City School of Medicine, 2401 Gilham Road, Kansas City, MO 64108, USA.
⁶ Milton S. Hershey Medical Center, College of Medicine, Pennsylvania State, 500 University Dr., Hershey, PA 17033, USA.
⁷ UF Center for Movement Disorders and Neurorestoration, Department of Neurology, College of Medicine, University of Florida, 3450 Hull Road, Gainesville, FL 32607, USA.
⁸ Department of Psychology, Texas A&M University, 4235 TAMU, College Station, TX 77843, USA.
⁹ 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.
¹⁰ Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143, USA. Electronic address: cmathews@lppi.ucsf.edu.

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.

Keywords: Attention deficit/hyperactivity disorder; Obsessive–compulsive disorder; Tourette Syndrome; Web-based assessment.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Adolescent
Adult
Attention Deficit Disorder with Hyperactivity / diagnosis
Attention Deficit Disorder with Hyperactivity / genetics
Attention Deficit Disorder with Hyperactivity / psychology
Child
Comorbidity
Female
Genetic Testing
Humans
Internet*
Interview, Psychological
Male
Mass Screening*
Obsessive-Compulsive Disorder / diagnosis
Obsessive-Compulsive Disorder / genetics
Obsessive-Compulsive Disorder / psychology
Phenotype*
Reproducibility of Results
Tourette Syndrome / diagnosis*
Tourette Syndrome / genetics*
Tourette Syndrome / psychology
Young Adult

Abstract

Publication types

MeSH terms

Grants and funding