Individual predictors should be taken into account when interpreting the SCAT3. The normative conversion tables and RCIs presented can be used to help interpret concussed athletes' performance both with and without baseline data, given the comparability of the 2 interpretative approaches.
BackgroundWilliams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive.MethodsWe report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted.ResultsOur in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion.ConclusionsOur findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed.
Objective
In concussion populations, suboptimal effort on performance validity tests (PVTs) has been associated with poorer neuropsychological scores and greater post-concussive complaints. This study examined if performance on TOMM Trial 1 was associated with increased cognitive deficits, post-concussive symptoms, and emotional concerns in a pediatric concussion population.
Method
This study utilized archival data from 93 patients (mean age = 14.56, SD = 2.01) with a history of concussion who were assessed at approximately 40 days post-injury. Individuals were divided into “Pass” and “Fail” groups based on their TOMM Trial 1 performance using the established cut-off. The testing battery included Auditory Consonant Trigrams, CPT-II and III, HVLT-R, WJ-III and IV, ImPACT, BASC-2, and BRIEF.
Results
The overall pass rate on Trial 1 was 70% (mean = 46.04, SD = 4.55). There were no significant correlations with Trial 1 and age, grade, gender, prior history of concussion, or mechanism of injury. The Fail group scored lower across domains of attention, memory, and processing speed when compared to the Pass group (p < .05), though their performances were largely average. On rating scales, more concerns were endorsed with the Fail group for attention and executive functioning relative to the Pass group (p < .05), though their scores were below clinical levels. The Fail group reported more post-concussive complaints (p < .05) but they did not significantly differ from the Pass group in terms of depressive symptoms, anxiety, or somatization.
Conclusions
This study highlights the importance of utilizing PVTs when evaluating concussion recovery in pediatric patients.
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