Establishing appropriate and validated methods to measure clinical outcomes in individuals with PHTS is critical to the development of future therapies. Below, we have collated clinical outcome measures developed specifically for use in PHTS, with potential applicability also in other related conditions.
There are few well-validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PHTS. Prof Tom Frazier from John Carroll University (US) with colleagues have developed two instruments consisting of an informant-report survey scale and a webcam collected social and cognitive performance measure (NCT05671107). Both instruments have been developed to assess the most important neurobehavioral domains in PHTS, and to be appropriate for use in the full range of individuals with PHTS.
These tools may also have utility in the assessment of other neurodevelopmental genetic syndromes and idiopathic neurodevelopment delay.
Dr Mirko Uljarević from Stanford University (US) has evaluated whether existing clinical assessments, commonly used for individuals with autism spectrum disorders, are also applicable to PHTS. The study showed that the Social Responsiveness Scale, 2nd edition (SRS-2) can be used to characterize profiles of strengths and weaknesses across distinct social functioning subdomains and that Repetitive Behaviours Scale – Revised (RBS-R) can characterize the severity of specific restricted and repetitive behaviour subdomains in patients with PHTS and autism spectrum disorders. Importantly, this work has demonstrated that noted instruments showed limitations regarding their domain representation and domain coverage and further development on adapting novel instruments is planned.
Note that no new data has been collected for this study that was based entirely on data from the Natural history study of individuals with autism and germline heterozygous PTEN mutations (NCT02461446).
