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

Area of Science:

• Neuroscience
• Genetics
• Psychiatry

Background:

• Collecting phenotypic data for neuropsychiatric disorders is resource-intensive.
• Web-based assessments offer a more efficient and cost-effective alternative for genetic research.
• Validating these digital tools against clinical interviews is crucial.

Purpose of the Study:

• To evaluate the reliability of a web-based screening tool for Tourette Syndrome (TS).
• To assess the accuracy of the web-based tool for common comorbid diagnoses: obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD).
• To compare web-based screening data against gold-standard clinical interviews.

Main Methods:

• A subset of participants from a TS genetic study, who completed a web-based phenotyping assessment, underwent semi-structured diagnostic clinical interviews.
• Clinical interview data were used to establish a gold-standard diagnosis for TS, OCD, and ADHD using best estimate procedures.
• Diagnostic status from the web-based screen was compared against the gold-standard clinical diagnoses.

Main Results:

• High agreement rates were observed between the web-based screen and clinical diagnoses for Tourette Syndrome.
• The study demonstrated high Kappa values for obsessive compulsive disorder and attention deficit/hyperactivity disorder diagnoses.
• These findings support the utility of self-report data from web-based screens.

Conclusions:

• Web-based phenotype assessments demonstrate high reliability for diagnosing Tourette Syndrome and its common comorbidities.
• The findings validate the use of digital phenotyping tools in genetic research for neuropsychiatric disorders.
• This approach enhances efficiency and cost-effectiveness compared to traditional diagnostic methods.