Clinical Neuropsychologist最新文献

Objective: Memory dysfunction is a persistent cognitive symptom following traumatic brain injury (TBI), negatively impacting capacity for independent living and productivity. Traditional scoring of neuropsychological memory tests does not allow for differentiation of specific impairments of encoding, consolidation and/or retrieval, or the potential impact of strategy deficits. Method: The current study examined performance of 142 moderate-to-severe TBI participants and 68 demographically matched healthy controls on the Rey Auditory Verbal Learning Test (RAVLT) using Item Specific Data Analysis (ISDA) and strategy use analyses. Results: Results revealed significantly greater impairments in encoding, consolidation, and retrieval in TBI participants, compared to controls. Encoding deficits significantly explained the most variance in the long-delayed recall of TBI participants, followed by consolidation, and then retrieval. Participants with TBI showed a reduced ability to spontaneously apply strategies during learning, evident in decreased subjective clusters and increased word omissions, compared to controls. No difference was found between groups in passive learning strategy application, shown through serial clustering. Spontaneous strategy measures both uniquely accounted for variance in the encoding ability of TBI participants. Conclusions: These findings highlight the potential value in using ISDA and strategy use measures to assess RAVLT results to better characterize individual memory profiles and inform rehabilitative interventions.

Objective: Drug-resistant temporal lobe epilepsy (TLE) is a neurological disorder characterized by cognitive deficits. This study examined whether patients with TLE and different cognitive phenotypes differ in cortisol levels and affectivity while controlling for demographic and clinical variables. Methods: In this cross-sectional study, 79 adults with TLE underwent neuropsychological evaluation in which memory, language, attention/processing speed, executive function, and affectivity were assessed. Six saliva samples were collected in the afternoon to examine the ability of the hypothalamic-pituitary-adrenal (HPA) axis to descend according to the circadian rhythm (C1 to C6). The cortisol area under the curve concerning ground (AUC_g) was computed to examine global cortisol secretion.

Results: Three cognitive phenotypes were identified: memory impairment, generalized impairment, and no impairment. The memory-impairment phenotype showed higher cortisol levels at C4, C5, and C6 than the other groups (p = 0.03, η² = 0.06), higher cortisol AUC_g than the generalized-impairment phenotype (p = 0.004, η² = 0.14), and a significant reduction in positive affectivity after the evaluation (p = 0.026, η² = 0.11). Higher cortisol AUC_g and reductions in positive affectivity were significant predictors of the memory-impairment phenotype (p < 0.001; Cox and Snell R² = 0.47).

Conclusions: Patients with memory impairment had a slower decline in cortisol levels in the afternoon, which could be interpreted as an inability of the HPA axis to inhibit itself. Thus, chronic stress may influence hippocampus-dependent cognitive function more than other cognitive functions in patients with TLE.

Background: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF) complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type 3. CSS is characterized by a range of developmental disabilities, facial dysmorphic features, and feeding difficulties. There's been noted genotype-phenotype correlation in CSS, with cases involving SMARCB1 mutations often exhibiting more severe language impairment and intellectual disability. Method: We conducted a review of reported CSS type 3 cases and presented the first instance of CSS associated with a SMARCB1 variant wherein the patient exhibited normal intelligence and only mild selective neuropsychological deficits. The patient underwent evaluation for feeding challenges, growth delay, and dysmorphic features during their second year of life. Subsequently, CSS diagnosis was confirmed due to a de novo heterozygous c.568C > T (p.Arg190Trp) variant in the SMARCB1 gene. Due to learning difficulties, the patient underwent a comprehensive neuropsychological assessment, which was related to the retrospective reconstruction of her medical and developmental history. Results: The patient demonstrated normal intelligence and adaptive functioning, with specific deficits in arithmetic and selective difficulties in verbal learning and long-term memory. Feeding difficulties and language delay observed in early childhood showed significant improvement over time. Discussion: We discuss this case in relation to previously reported CSS type 3 cases, emphasizing neuropsychological aspects. It's evident that neuropsychological features of CSS can vary among affected individuals, highlighting the importance of personalized support and interventions tailored to specific cognitive and emotional needs by healthcare professionals. Our case suggests avenues for future research to identify specific modifiers of phenotypic expression to explain variability in intellect among patients and pinpoint potential targets for gene therapy.

Objective: Identifying neuropsychiatric symptoms (NPS) can aid in the early detection of Alzheimer's disease (AD); however, there is still a need for a greater consensus. This review aims to delineate the predominant NPS, compile a comprehensive list of the most commonly employed NPS assessment tools, and corroborate the principal findings regarding the link between NPS and neuropsychological assessment and neurobiological substrates. Methods: To conduct this scoping review, we followed the Preferred Reporting Items for Systematic Reviews guidelines and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). We searched for relevant articles published between 2017 and 2023 in MEDLINE, PsycINFO, PubMed, Web of Science, and Cochrane Library. Results: Of the 61 eligible articles, depression, anxiety, and apathy were the main NPSs. The Neuropsychiatric Inventory Questionnaire and Neuropsychiatric Inventory were the primary assessment tools used to evaluate NPS. Correlations between NPS severity and neurobiological markers were considered clinically significant. Furthermore, clinical procedures prioritized the use of global cognitive screening tools, assessments of executive functions, and functionality evaluations. Conclusion: Standardization of procedures is necessary because of the diversity of methods. The data show that NPS can predict the etiology, severity, form, and type of disease progression, serving as a precursor sign of AD. The results of the most common cognitive screening tools and NPS instruments provided an interesting overview of future clinical approaches.

Objective: POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in POLR3A, POLR3B, POLR1C, or POLR3K genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment. Method: The current study presents a 20-year-old, English-speaking, right-handed, non-Hispanic White female with 12 years of education with genetically confirmed 4H POLR3B-related leukodystrophy without hormonal replacement treatment. Results: At age 4, developmental delays, ataxia, hearing loss, and abnormal dentition were present. Imaging, endocrinology, and neurologic examinations revealed hypomyelination, reduced cerebellar volume, delayed bone age density, osteopenia, and evidence of adrenarche without signs of true puberty. Neuropsychological assessment at age 20 revealed global cognitive impairment with intellectual, attention, verbal memory retrieval, construction, executive (e.g. processing speed, sustained attention) and math computation deficits, along with behavioral dysregulation. Conclusion: We present the first detailed neuropsychological assessment of a patient with 4H leukodystrophy. The neuropsychological assessment revealed cognitive and behavioral dysexecutive deficits aligning with hypomyelination observed on imaging. Further longitudinal studies are needed to shed light on the neurobehavioral presentation associated with this disorder to assist care providers, patients, and their families.

Objective: The Delis-Kaplan Executive Function System (D-KEFS) Color-Word-Interference Test (CWIT; AKA Stroop test) is a widely used measure of processing speed and executive function. While test materials and instructions have been translated to Norwegian, only American age-adjusted norms from D-KEFS are available in Norway. We here develop norms in a sample of 1011 Norwegians between 20 and 85 years. We provide indexes for stability over time and assess demographic adjustments applying the D-KEFS norms. Method: Participants were healthy Norwegian adults from Center for Lifespan Changes in Brain and Cognition (LCBC) (n = 899), the Dementia Disease Initiation (n = 77), and Oslo MCI (n = 35). Using regression-based norming, we estimated linear and non-linear effects of age, education, and sex on the CWIT 1-4 subtests. Stability over time was assessed with intraclass correlation coefficients (ICC). The normative adjustment of the D-KEFS norms was assessed with linear regression models. Results: Increasing age was associated with slower completion on all CWIT subtests in a non-linear fashion (accelerated lowering of performance with older age). Women performed better on CWIT-1&3. Higher education predicted faster completion time on CWIT-3&4. The original age-adjusted norms from D-KEFS did not adjust for sex or education. Furthermore, we observed significant, albeit small effects of age on all CWIT subtests. ICC analyses indicated moderate to good stability over time. Conclusion: We present demographically adjusted regression-based norms and stability indexes for the D-KEFS CWIT subtests. US D-KEFS norms may be inaccurate for Norwegians with high or low educational attainment, especially women.

Objective: Pediatric epilepsy surgery effectively controls seizures but may risk cognitive, language, or memory decline. Historically, the intra-carotid anesthetic procedure (IAP or Wada Test) was pivotal for language and memory function. However, advancements in noninvasive mapping, notably functional magnetic resonance imaging (fMRI), have transformed clinical practice, reducing IAP's role in presurgical evaluations. Method: We conducted a critical narrative review on mapping technologies, including factors to consider for discordance. Results: Neuropsychological findings suggest that if pre-surgery function remains intact and the surgery targets the eloquent cortex, there is a high chance for decline. Memory and language decline are particularly pronounced post-left anterior temporal lobe resection (ATL), making presurgical cognitive assessment crucial for predicting postoperative outcomes. However, the risk of functional decline is not always clear - particularly with higher rates of atypical organization in pediatric epilepsy patients and discordant findings from cognitive mapping. We found little research to date on the use of IAP and other newer technologies for lateralization/localization in pediatric epilepsy. Based on this review, we introduce an IAP decision tree to systematically navigate discordance in IAP decisions for epilepsy presurgical workup. Conclusions: Future research should be aimed at pediatric populations to improve the precision of functional mapping, determine which methods predict post-surgical deficits and then create evidence-based practice guidelines to standardize mapping procedures. Explicit directives are needed for resolving conflicts between developing mapping procedures and established clinical measures. The proposed decision tree is the first step to standardize when to consider IAP or invasive mapping, in coordination with the multidisciplinary epilepsy surgical team.

Objective: To determine if similar levels of performance on the Overall Test Battery Mean (OTBM) occur at different forced choice test (FCT) p-value score failures. Second, to determine the OTBM levels that are associated with failures at above chance on various performance validity (PVT) tests. Method: OTBMs were computed from archival data obtained from four practices. We calculated each examinee's Estimated Premorbid Global Ability (EPGA) and OTBM. The sample size was 5,103 examinees with 282 (5.5%) of these scoring below chance at p ≤ .20 on at least one FCT. Results: The OTBM associated with a failure at p ≤ .20 was equivalent to the OTBM that was associated with failing 6 or more PVTs at above-chance cutoffs. The mean OTBMs relative to increasingly strict FCT p cutoffs were similar (T scores in the 30s). As expected, there was an inverse relationship between the number of PVTs failed and examinees' OTBMs. Conclusions: The data support the use of p ≤ .20 as the probability level for testing the significance of below chance performance on FCTs. The OTBM can be used to index the influence of invalid performance on outcomes, especially when an examinee scores below chance.

Objective: Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative condition characterized by progressive changes in behavior, cognition, and day-to-day functioning. Progression of the disease usually leads to death 3-5 years after diagnosis. However, there are reports of individuals who are initially diagnosed with bvFTD but fail to progress. These individuals are thought to have what is becoming known as phenocopy bvFTD (phFTD). Methods: This manuscript reviews a single case study of a 68-year-old male Veteran who was diagnosed with bvFTD in 2010, which has not progressed over time. Results: Review of serial neuropsychological evaluations was broadly normal with mild evidence of executive dysfunction with minimal reliable change in his performances from 2015, 2017, and 2022 evaluations. He also has not developed neuroimaging evidence of FTD. Conclusions: This case illustrates the importance of monitoring individuals over time and incorporating neuroimaging data into the diagnosis. We believe this Veteran's presentation is most consistent with what has been described as phFTD.

Objective: There is a crucial need for reliable tools to measure impaired self-awareness (ISA) in patients with acquired brain injury (ABI) across cognitive-functional domains. The aim of this study was to assess the psychometric properties of the Cog-Awareness ADL Scale, which is a novel self-proxy discrepancy method for measuring ISA in both basic and instrumental activities of daily living. Methods: This multicenter study included 54 patients (no-low ISA n = 33; severe ISA, n = 21) from four outpatient rehabilitation units in Málaga-Granada, Spain, and 51 healthy controls. The participants and proxy raters completed the Cog-Awareness ADL Scale and the Patient Competency Rating Scale (PCRS). Agreement between both scales was assessed using Spearman's correlations and the Bland-Altman plot. Group comparisons were made on measures of SA, cognitive abilities and demographic variables. Sensitivity and specificity were analysed by ROC curve analysis. Results: Convergent validity was supported by strong correlations with the PCRS and its subscales (rho's ranging from 0.51 to 0.80, p < 0.01 for all). The Bland-Altman plot confirmed measurement agreement (only 3.70% of the scores were outside the 95% limits). External validity was demonstrated by effectively discriminating between healthy controls and ABI patients with no-low and severe ISA on each discrepancy index while controlling for cognitive/demographic variables. The Cog-Awareness ADL Scale showed optimal diagnostic accuracy (AUC = 0.95, sensitivity = 0.90, specificity = 0.90). Conclusions: The Cog-Awareness ADL Scale proved to be a feasible, valid, and clinical tool to assess ISA across different cognitive-functional domains, in Spanish ABI-patients.