Developing a Phenotype Risk Score for Tic Disorders in a Large, Clinical Biobank

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Tics are involuntary movements/sounds common in early-onset neurodevelopmental disorders, affecting up to 2% of children.
• The genetic and phenotypic heterogeneity of tic disorders complicates understanding their underlying causes.

Approach:

• Leveraged dense phenotype data from electronic health records (EHRs) within a clinical biobank.
• Conducted a phenome-wide association study (PWAS) to identify features associated with tic disorders.
• Developed and validated a phenotype risk score for tic disorders using EHR data.

Key Points:

• PWAS identified 69 significantly associated phenotypes, predominantly neuropsychiatric conditions.
• Obsessive compulsive disorder, ADHD, autism, and anxiety were notably enriched in tic disorder cases.
• The phenotype risk score was significantly higher in clinician-validated tic cases in an independent cohort.

Conclusions:

• Large-scale EHR data can elucidate phenotypically complex diseases like tic disorders.
• The developed phenotype risk score offers a quantitative measure for disease risk assessment.
• This score can aid in assigning individuals for case-control studies and downstream analyses.