Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.

OBJECTIVE: Familial idiopathic basal ganglia calcification (FIBGC) is a rare, heritable disease characterized by calcium deposition in the basal ganglia and other brain regions. Clinical presentations are diverse, featuring an array of neurologic, psychiatric, and/or cognitive symptoms. This dyad report presents neurogenetic, neuroimaging, neurological, and serial neuropsychological data from a father (S1) and son (S2) with FIBGC. METHOD/RESULTS: The SLC20A2 genetic mutation c.1828-1831delTCCC was identified for each patient, both of whom evidenced similar patterns of brain calcification mainly in the basal ganglia and cerebellum on neuroimaging. S1's onset was in his late 60s with primary motor abnormalities followed by cognitive decline; S2's younger onset (late 30s) was characterized by predominant psychiatric symptoms and mild cognitive changes. Our unique, detailed longitudinal study revealed that both subjects demonstrated largely stable performance across most neuropsychological domains assessed. CONCLUSIONS: The subjects' differences in presentation demonstrate the variable expressivity in FIBGC even with the same pathogenic variant within a single family. Distinct phenotypes may be associated with age of onset even in persons with the same mutation, consistent with past research. Disease progression may feature an initial period of notable change from baseline followed by relative stability, as seen both on imaging and neuropsychological evaluation.

Prefrontal working memory activity predicts episodic memory performance: A neuroimaging study.

Working memory (WM) and long term memory (LTM) are different neuropsychological processes, although distinction between these domains is an area of debate. LTM is thought to rely on hippocampal circuitry. Cognitive neuroscience models imply that WM processing may at least partially support LTM within regions of the prefrontal cortex (PFC). We sought to determine the association between PFC based WM processing and LTM in the visuospatial domain. In contrast to prior work, we aimed to query if WM was involved in learning and free recall trials as measured by standard neuropsychological tests of LTM. Forty-three older adults (24 with a diagnosis of amnestic Mild Cognitive Impairment and 19 elderly controls) were included in the analysis. Patients completed a fMRI task of visuospatial maintenance WM in which they were required to match a previously studied complex shape with one of two probes. Extent of activity in the right PFC during the WM task was tabulated for each patient. Hippocampal volume was quantified from T1 scans. On a separate day patients completed neuropsychological testing, including the Brief Visuospatial Memory Test- Revised (BVMT-R), which includes learning trials (total recall), delayed free recall, and recognition. Right PFC activity was associated with performance on BVMT-R total recall and delayed recall. Results from multiple regression showed that PFC activity explained an additional 9 % of the variance in memory performance above right hippocampal volume. These findings suggest that PFC processing that supports WM (including stimuli maintenance, retrieval, and selection) are also involved in LTM learning and recall.

The Functional Status Examination in Mild Traumatic Brain Injury: A TRACK-TBI Sub-Study.

OBJECTIVE: The Functional Status Examination (FSE) is a comprehensive measure of functional status post-traumatic brain injury (TBI) that has primarily been used in studies of moderate-to-severe TBI. The present observational study examines functional status using the FSE among patients who sustained mild TBIs (mTBIs; defined as Glasgow Coma Scale [GCS] = 13-15 at admission) seen in a Level 1 trauma center. Study aims included examining the course of functional status following mTBI, as well as exploring relationships of the FSE and other relevant constructs among those with GCS = 13-15. METHOD: Participants were assessed at 2 weeks (n = 112), 3 months (n = 113), 6 months (n = 106), and 12 months (n = 88) post-injury for changes in functional status resulting both (a) from all injuries and (b) from TBI only. RESULTS: Among seven domains of day-to-day functioning, participants generally experienced the greatest disruption in their primary activity (work or school) and in leisure and recreation. Subjects' overall functional status tended to improve over time, with sharpest increases in functionality occurring in the first 3 months post-injury. However, some subjects continued to report functional limitations even at 12 months post-injury. Functional status was largely unrelated to neurocognitive functioning, but related strongly to post-traumatic symptoms, life satisfaction, and emotional well-being, particularly at 3 months post-injury and beyond. CONCLUSION: Findings indicate that functional impairments related to mTBI may be more likely to persist than widely believed, with those who experience lingering functional deficits at particular risk for emotional health difficulties.

The Temporal Relationship of Mental Health Problems and Functional Limitations following mTBI: A TRACK-TBI and TED Study.

Mental health problems, such as depression and anxiety, are often associated with functional limitations after traumatic brain injury (TBI), prompting researchers to explore which of these TBI-related sequelae tends to precede the other. Past studies among patients with injuries ranging in severity have predominantly reported that functional impairments predict subsequent psychological concerns, rather than the other way around; however, it remains unclear whether this directionality holds for individuals with mild TBI (mTBI). The present study utilized a cross-lagged panel design within a structural equation modeling analytical framework to explore the longitudinal relationships of symptoms of depression and anxiety to functional status among 717 adult mTBI patients, with assessments occurring at 2 weeks and 3 months post-injury. Symptoms of both depression and anxiety significantly predicted subsequent functional limitations (λs = -0.21 and -0.25), whereas the reverse effects were nonsignificant (λs = -0.05 and -0.03); thus, psychological concerns appeared to function as a precursor to functional impairment. This pattern was particularly pronounced among patients with normal head computed tomography (CT) results; however, results were less clear cut among those subjects whose injuries were accompanied by intracranial abnormalities detected on CT imaging, suggesting the possibility of a more reciprocal relationship in the case of CT-positive mTBI. These results may serve to partially explain the incidence of persistent functional limitations observed among subsets of mTBI patients in past studies. Findings likewise highlight the importance of assessment and treatment for mental health problems after mTBI as an important factor to promote psychological well-being and functional recovery.

Development of the Professional Self-Care Scale.

In recent years, there has been an increased emphasis on the importance of self-care for psychologists and other mental health professionals. With the growth of positive psychology and preventive medicine, self-care is an emerging topic, promulgated as a means of avoiding the adverse effects of stress and promoting professional functioning and well-being. However, the research on self-care is limited because of the lack of an empirically based, psychometrically sound measure of this construct. Thus, the purpose of this project was to develop a measure of professional self-care. Professional psychologists were the focus of study, with the goal being to develop a measure that can be used in this population and similar groups of professionals. Based on expert feedback and a preliminary study of 422 licensed psychologists in Illinois, a 5-factor, 21-item scale was created. Factor analysis identified the following self-care factors: Professional Support, Professional Development, Life Balance, Cognitive Awareness, and Daily Balance. Preliminary analyses provided initial support for the validity of the 5 factors. A follow-up study was conducted with a second sample of clinical psychologists. The 5-factor structure provided a good fit to the data with the second sample. Thus, based on factor analysis and validity data, a 5-factor, 21-item Professional Self-Care Scale was established for further study and use in future research. (PsycINFO Database Record

A Meta-Analysis of the Impact of Universal and Indicated Preventive Technology-Delivered Interventions for Higher Education Students.

The uses of technology-delivered mental health treatment options, such as interventions delivered via computer, smart phone, or other communication or information devices, as opposed to primarily face-to-face interventions, are proliferating. However, the literature is unclear about their effectiveness as preventive interventions for higher education students, a population for whom technology-delivered interventions (TDIs) might be particularly fitting and beneficial. This meta-analytic review examines technological mental health prevention programs targeting higher education students either without any presenting problems (universal prevention) or with mild to moderate subclinical problems (indicated prevention). A systematic literature search identified 22 universal and 26 indicated controlled interventions, both published and unpublished, involving 4763 college, graduate, or professional students. As hypothesized, the overall mean effect sizes (ESs) for both universal (0.19) and indicated interventions (0.37) were statistically significant and differed significantly from each other favoring indicated interventions. Skill-training interventions, both universal (0.21) and indicated (0.31), were significant, whereas non-skill-training interventions were only significant among indicated (0.25) programs. For indicated interventions, better outcomes were obtained in those cases in which participants had access to support during the course of the intervention, either in person or through technology (e.g., email, online contact). The positive findings for both universal and indicated prevention are qualified by limitations of the current literature. To improve experimental rigor, future research should provide detailed information on the level of achieved implementation, describe participant characteristics and intervention content, explore the impact of potential moderators and mechanisms of success, collect post-intervention and follow-up data regardless of intervention completion, and use analysis strategies that allow for inclusion of cases with partially missing data.