2 research outputs found
Predicting Driving Performance in Older Adults with the Useful Field of View Test: A Meta-Analysis
This investigation examines the Useful Field of View (specifically theUFOV® test), as a predictor of objective measures of driving performance.PubMed and PsycInfo databases were searched to retrieve eight independentstudies reporting bivariate relationships between the UFOV® test and drivingmeasures (driving simulator performance, state-recorded crashes, and on-roaddriving). Cumulative meta-analysis techniques were used to examine thepredictive utility of the test, to determine whether the effect size was stable acrossstudies, and to assess whether a sufficient number of studies have been conductedto conclude that the test is an effective predictor of driving competence. Resultsshowed that the study samples could have been drawn from the same population.The weighted mean effect size across all studies revealed a large effect, Cohen’sd=0.945, with poorer UFOV® test performance associated with negative drivingoutcomes. This relationship was robust across multiple indices of drivingperformance and several research laboratories. A concrete measure of sufficiencyrevealed that an additional 513 studies averaging a null result must be conductedto bring the p-value for the cumulative effect size to greater than .05. Thisconvergence of evidence across different points in time and different researchteams confirms the importance of the UFOV® assessment as a valid and reliableindex of driving performance and safety. Corroborating this finding, a recent largefield study in Maryland has further established the UFOV® test as a usefulscreening instrument to identify at-risk older drivers. Taken together, thesefindings could have far-reaching implications for public policy
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Purpose
This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.
Methods
Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues, matchmaking platforms, and literature review. For each individual, detailed phenotyping, classification, and structural modeling of the identified variant were performed.
Results
The cohort comprises 23 individuals with pathogenic or likely pathogenic de novo variants in SNAP25. Intellectual disability and early-onset epilepsy were identified as the core symptoms of SNAP25-DEE, with recurrent findings of movement disorders, cerebral visual impairment, and brain atrophy. Structural modeling for all variants predicted possible functional defects concerning SNAP25 or impaired interaction with other components of the SNARE complex.
Conclusion
We provide a comprehensive description of SNAP25-DEE with intellectual disability and early-onset epilepsy mostly occurring before the age of two years. These core symptoms and additional recurrent phenotypes show an overlap to genes encoding other components or associated proteins of the SNARE complex such as STX1B, STXBP1, or VAMP2. Thus, these findings advance the concept of a group of neurodevelopmental disorders that may be termed “SNAREopathies.