Wiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of the epigenetic machinery caused by heterozygous pathogenic variants in KMT2A. Currently, the specific neurocognitive profile of this syndrome remains unknown. This case series provides insight into the cognitive phenotype of WSS.

This study involves a retrospective medical chart review of 10 pediatric patients, each with a molecularly confirmed diagnosis of WSS who underwent clinical neuropsychological evaluation at an academic medical center.

The majority of patients performed in the below average to very low ranges in Nonverbal Reasoning, Visual/Spatial Perception, Visuoconstruction, Visual Memory, Attention, Working Memory and Math Computation skills. In contrast, over half the sample performed within normal limits on Receptive Vocabulary, Verbal Memory, and Word Reading. Wilcoxon signed rank test showed weaker Nonverbal versus Verbal Reasoning skills (p = .005). Most caregivers reported deficits in executive functioning, most notably in emotion regulation.

Nonverbal reasoning/memory, visuospatial/construction, attention, working memory, executive functioning, and math computation skills are areas of weakness among those with WSS. These findings overlap with research on Kabuki syndrome, which is caused by variants in KMT2D, and suggest disruption in the neurogenesis of the hippocampal formation may drive shared pathogenesis of the two syndromes.

In the absence of a simple validated instrument to screen for cognitive impairment among illiterate Lebanese older adults, the aims of this study were to validate an Arabic version of the Test of Nine Images (A-TNI93) adapted by the Working Group on Dementia at Saint Joseph University: Groupe de Travail sur les Démences de l’Univesité Saint Joseph (GTD-USJ) for illiterate older Lebanese and to establish normative data.

A national population-based sample of 332 community-dwelling illiterate Lebanese aged 55 years and older was administered the A-TNI93 (GTD-USJ) scoring free and overall recall. The sample is part of a larger national sample (1342 participants) used to validate an Arabic version of the Mini-Mental State Examination already reported. Reproducibility, sensitivity, specificity, and area under the curve of the A-TNI93 (GTD-USJ) scoring to detect cognitive impairment according to Clinical Dementia Rating (CDR) as the gold standard were measured. Normative data were established among 188 cognitively normal participants.

A threshold score of six on free recall (FR) provided a sensitivity of 66.7% and a specificity of 90.5%. The area under the curve was 0.93. By taking either scores, that is, a FR ≤ 6 or a total recall ≤ 8, the A-TNI93 (GTD-USJ) slightly improved dementia case detection with a sensitivity of 70.8% and a specificity of 88%. Normative data illustrate the distribution of cognitive performance among illiterate older adults.

Compared to the CDR requiring physician’s competence, the A-TNI93 (GTD-USJ) is a valid Arabic adaptation to screen for cognitive impairment among illiterate Lebanese older adults.

Dementia among migrants is an emerging phenomenon worldwide and the development of neuropsychological tests sensitive to cultural differences is increasingly regarded as a priority. The Clock Drawing Test (CDT) is one of the most used screening tools for the detection of cognitive decline. Nevertheless, there is still a debate about its adoption as a cross-cultural assessment.

To identify cultural variables influencing performance at CDT, we performed a systematic review of literature on three databases of all studies considering the role of at least one of the following: (1) language; (2) education; (3) literacy; (4) acculturation; and (5) ethnicity.

We extrapolated 160 analyses from 105 studies. Overall, an influence of cultural determinants on performance at CDT was found in 127 analyses (79.4%). Regarding specific cultural factors, 22 analyses investigated the effect of ethnicity on CDT scores, reporting conflicting results. Only two scoring systems turned out to be sufficiently accurate in a multicultural population. Language influenced performance in only 1 out of 8 analyses. A higher level of education positively influenced test performance in 118 out of 154 analyses (76.6%), and a better quality of education in 1 analysis out of 2. A negative influence of illiteracy on CDT performance emerged in 9 out of 10 analyses. Acculturation affected performances at CDT in 1 out of 2 studies.

Based on the present findings, caution is needed when using CDT in a multicultural context, even if it requires limited linguistic competence.

Subjective cognitive decline (SCD) and how much cognitive decline impacts one’s ability to perform instrumental activities of daily living (iADLs) are necessary elements of neuropsychological assessment when diagnosing mild cognitive impairment (MCI) and dementia. Though limited, the literature suggests that culture and self-appraisal of cognitive abilities are related. However, it is unclear if differences exist in the subjective elements of neuropsychological assessments between patients born in Anglosphere countries (Canada, the USA, and the UK) versus immigrants born elsewhere (International Group).

We conducted a retrospective chart review of advanced Parkinson’s disease (PD) patients (n = 764). Reports of SCD and iADL difficulties were extracted from neuropsychological reports and coded by two independent raters. We also examined responses on self- and family-rated questionnaires of executive functioning and iADL difficulties.

Anglosphere and International patients did not differ on overall, memory, or attention SCD, or overall iADL difficulties based on interviews. Anglosphere patients reported more executive and language SCD during the interview but International care-partners reported more current executive dysfunction on a questionnaire. International patients and care-partners reported more iADL difficulties on a questionnaire, which they ascribed to motor (not cognitive) symptoms. The effects on questionnaires were small and persisted after accounting for depression severity ratings.

There were no consistent group differences in the number or pervasiveness of SCD or iADL difficulties reported by Anglosphere versus International groups. Immigration status has limited effect on these subjective elements and they should be given significant weight when diagnosing cognitive dysfunction in PD.

To examine neuropsychological functioning as a predictor of psychosocial adjustment difficulties at discharge from a postacute residential rehabilitation facility for traumatic brain injury (TBI) and depression as a potential mediator.

A retrospective record review was conducted of 172 adults who received rehabilitation services for TBI. Individuals completed a full battery of neuropsychological tests, depression assessment, and functional assessments at admission. Functional assessments were also obtained at discharge.

A two-phase structural equation model analysis was performed. The first phase specified a good fitting model of a cognitive functioning (CF) latent construct with four indicators of cognitive domains measuring verbal fluency, cognitive flexibility, verbal learning, and working memory. Worse CF was associated with greater psychosocial adjustment impairment at discharge, but not related to depression. Psychosocial adjustment impairment at admission was positively associated with depression when controlling for CF, however depression did not predict psychosocial adjustment at discharge. Thus, depression was not found to be a significant mediator of psychosocial adjustment impairment at discharge.

Results provide support for neuropsychological functioning at the start of postacute rehabilitation for TBI as an important predictor of psychosocial functioning difficulties that remain upon discharge and highlights the need to examine mechanisms beyond depression.

Older adults with exceptional memory function, designated “SuperAgers,” include individuals over age 80, with episodic memory at least as good as individuals ages 50s–60s. The Northwestern University SuperAging cohort is defined by performance on an established test of verbal memory. The purpose of this study was to determine if superior verbal memory extends to nonverbal memory in SuperAgers by examining differences in the National Institutes of Health Toolbox® (NIHTB) between older adults with exceptional memory and those with average-for-age cognition.

SuperAgers (n = 46) and cognitively average-for-age older adults (n = 31) completed a comprehensive neuropsychological battery and the NIHTB Cognition module. Multiple linear regressions were used to examine differences on subtests between groups.

There was a significant effect of group on the Picture Sequence Memory score, (p = .007), such that SuperAgers had higher scores than cognitively average-for-age older adults. There were no other group effects across other non-episodic memory NIHTB Cognition measures.

Findings from this study demonstrated stronger performance on the memory measure of the NIHTB in SuperAgers compared to cognitively average-for-age older adults demonstrating superior memory in not only verbal but also nonverbal episodic memory in this group. Additionally, this study adds to the literature validating the NIHTB in older adults, particularly in a novel population of adults over age 80 with exceptional memory.

This observational study examined the feasibility, reliability, and validity of repeated ambulatory cognitive tests in fibromyalgia (FM).

Adults with FM (n = 50) and matched controls (n = 50) completed lab-based neuropsychological tests (NIH Toolbox) followed by eight days of smartphone-based ambulatory testing of processing speed (symbol search) and working memory (dot memory) five times daily. Feasibility was assessed based on response rates. Reliability was evaluated using overall average between-person reliabilities for the full assessment period and by determining the number of assessment days necessary to attain reliabilities of >.80 and >.90. To assess convergent validity, correlations were calculated between ambulatory test scores and NIH Toolbox scores. Test performance was contrasted between the FM and non-FM groups to examine known-groups validity.

Average rates of response to the ambulatory cognitive tests were 89.5% in FM and 90.0% in non-FM. Overall average between-person reliabilities were ≥.96. In FM, between-person reliability exceeded .90 after two days for symbol search and three days for dot memory. Symbol search scores correlated with NIH Toolbox processing speed scores in both groups, though there were no significant group differences in symbol search performance. Dot memory scores correlated with NIH Toolbox working memory scores in both groups. FM participants exhibited worse dot memory performance than did non-FM participants.

Repeated ambulatory tests of processing speed and working memory demonstrate feasibility and reliability in FM, though evidence for construct validity is mixed. The findings demonstrate promise for future research and clinical applications of this approach to assessing cognition in FM.

The COVID-19 pandemic exacerbated gender disparities in some academic disciplines. This study examined the association of the pandemic with gender authorship disparities in clinical neuropsychology (CN) journals.

Author bylines of 1,018 initial manuscript submissions to four major CN journals from March 15 through September 15 of both 2019 and 2020 were coded for binary gender. Additionally, authorship of 40 articles published on pandemic-related topics (COVID-19, teleneuropsychology) across nine CN journals were coded for binary gender.

Initial submissions to these four CN journals increased during the pandemic (+27.2%), with comparable increases in total number of authors coded as either women (+23.0%) or men (+25.4%). Neither the average percentage of women on manuscript bylines nor the proportion of women who were lead and/or corresponding authors differed significantly across time. Moreover, the representation of women as authors of pandemic-related articles did not differ from expected frequencies in the field.

Findings suggest that representation of women as authors of peer-reviewed manuscript submissions to some CN journals did not change during the initial months of the COVID-19 pandemic. Future studies might examine how risk and protective factors may have influenced individual differences in scientific productivity during the pandemic.

There is increasing interest in the utilization of proton beam radiation therapy (PRT) to treat pediatric brain tumors based upon presumed advantages over traditional photon radiation therapy (XRT). PRT provides more conformal radiation to the tumor with reduced dose to healthy brain parenchyma. Less radiation exposure to brain tissue beyond the tumor is thought to reduce neuropsychological sequelae. This systematic review aimed to provide an overview of published studies comparing neuropsychological outcomes between PRT and XRT.

PubMed, PsychINFO, Embase, Web of Science, Scopus, and Cochrane were systematically searched for peer-reviewed published studies that compared neuropsychological outcomes between PRT and XRT in pediatric brain tumor patients.

Eight studies were included. Six of the studies utilized retrospective neuropsychological data; the majority were longitudinal studies (n = 5). XRT was found to result in lower neuropsychological functioning across time. PRT was associated with generally stable neuropsychological functioning across time, with the exception of working memory and processing speed, which showed variable outcomes across studies. However, studies inconsistently included or considered medical and sociodemographic differences between treatment groups, which may have impacted neuropsychological outcomes.

Despite methodological limitations, including limited baseline neuropsychological evaluations, temporal variability between radiation treatment and first evaluation or initial and follow-up evaluations, and heterogenous samples, there is emerging evidence of sociodemographic inequities in access to PRT. With more institutions dedicating funding towards PRT, there may be the opportunity to objectively evaluate the neuropsychological benefits of patients matched on medical and sociodemographic variables.

Executive functioning (EF) can be one of the earliest, despite under-detected, impaired cognitive domains in patients with multiple sclerosis (pwMS). However, it is still not clear the role of EF on verbal fluency tests given the presence of information processing speed (IPS) deficits in pwMS.

Performance of a group of 43 pwMS without IPS impairment as measured with the Symbol Digit Modalities Test (SDMT) and a group of 32 healthy controls (HC) was compared on the Phonemic and Semantic Fluency Tests. For each group, we scored the number of words generated (i) in the early time interval (i.e., first 15 sec, semi-automatic process) and (ii) in the late time interval (i.e., from 15 to 60 sec, controlled process).

Globally, pwMS produced significantly fewer words than HC on the Phonemic but not on the Semantic Fluency Test. Crucially, in the Phonemic Fluency Test pwMS generated significantly fewer words than HC in the late time interval, whereas no significant difference between the two groups emerged in the early time interval.

These findings suggest that executive dysfunction is the core element on the Phonemic Fluency Test also in pwMS and it deserves attention in both research and clinical practice.

From diagnosis to remission, a patient’s journey with cancer can be long and tiresome, riddled with many adjustments and challenges. Because the stressors of the disease continue into remission, the battle is far from over when the cancerous cells are eradicated. The stress placed on cancer patients due to the disease and the treatments to control it causes many patients to experience cognitive impairment, also known as cancer-related cognitive impairment (CRCI). Researchers have long been baffled by CRCI and the mechanisms through which it takes place. Some explanations that have arisen include the cancer treatment, the cancer itself, the psychological distress, or a combination of all three. The objective of this study was to understand the mechanism through which CRCI occurs and what factors, including psychosocial, treatment, and demographic variables, exacerbate or reduce the cognitive symptoms.

Cancer survivors (n=39) with various types of cancer were recruited from support groups to complete an online survey, which was comprised of a series of self-report measures. These measures included perceived cognitive abilities, psychological distress, fatigue, social support, and demographic and treatment questionnaires.

Cognitive reserve (p < .05) and the presence of chemotherapy (p < .01) were the only variables that predicted perceived cognitive impairment. As expected, it was found that the length of time in remission led to lower levels of perceived cognitive impairment (p < .001). However, psychological distress was not found to be a significant predictor of perceived cognitive impairment as hypothesized. Remarkably, psychological distress was found to be a mediator in the relationship between perceived cognitive impairment and fatigue (p < .001).

This relationship indicates that how an individual copes with the cognitive impairment following cancer treatments can lead to the development and exacerbation of fatigue. A failure to manage psychological health can lead to the worsening of these secondary symptoms. Further research must examine the link between psychosocial factors as they relate to the subtle effects of CRCI.