The following is a summary of “Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change,” published in the January 2023 issue of Neurodevelopmental Disorders by M. Busch, et al.
PTEN hamartoma tumor syndrome (PHTS) is characterized by a unique neurobehavioral profile that points to frontal lobe symptoms as the predominant disturbance, with more severe cognitive abnormalities in those with concomitant autism spectrum disorder (ASD). This study aimed to characterize neurobehavioral profiles over time in people with PHTS by conducting serial assessments (2-3) across 2 years. A total of 92 people (ages 6-21) with PHTS and/or ASD were given thorough neurobehavioral assessments. Individual patient profiles and group trends were visualized using spaghetti plots, and variations in group performance on cognitive and behavioral tests were analyzed using linear mixed-effects models.
To better assess future neurobehavioral change in children and young people with PHTS, practice-adjusted reliable change indices (RCIs) and standardized regression-based change scores (SRBs) were computed for measures in the battery with sufficient sample sizes and test-retest reliabilities. At the outset, there were substantial individual variances across all indicators. There were no significant changes in any of the groups’ longitudinal neurobehavioral profiles, which is encouraging given that the disparities between the patient groups at baseline remained stable over the course of the study’s 2-year duration. Overall, test-retest reliability was relatively high (0.62–0.97), and mean group change from baseline to 12 months was minimal (-3.8–3.7).
Using a child’s or young adult’s test scores, a Microsoft Excel calculator was developed for use by clinicians and researchers in automatically determining RCI and SRB thresholds at 80% and 90% confidence intervals. The findings prove that the neurobehavioral phenotypes identified in people with PHTS are rather stable over time, especially in those with ASD. Future studies can use the offered RCIs and SRBs to examine individual patient outcomes and spot unfavorable deviations from the expected trajectory. This can help investigators determine how to intervene best.
Source: jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-022-09468-4