Development and validation of PHTS specific neurobehavioural evaluation tools

Currently, there is a lack of measures specifically developed and tailored for the PHTS population. The high prevalence of neurodevelopmental and neuropsychiatric symptoms in this clinically diverse population, together with the significant negative impact on affected individuals and their families, makes this particular manifestation a key target for the development of improved clinical measures.

New tools should be optimised for screening, diagnosis, treatment outcome monitoring and neurobiological investigations in this population. An additional challenge for rare conditions, such as PHTS, is that people with the condition are often geographically distant from specialist research centres, so remote tools are highly desirable.

Project goals

To develop and validate brief clinical outcome measures that can appropriately assess the broad neurobehavioural phenotype associated with PHTS in the family home.

Project overview

In this project, Prof Thomas Frazier’s team developed and validated a web-based clinical outcome assessment designed specifically for people with PHTS. The project has two parts - caregiver completed surveys called the neurobehavioural evaluation tool (NET) and webcam-collected performance measures to facilitate remote capture of key neurobehavioural information from individuals with PHTS.