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PMM2-CDG (formerly CDG-1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2-CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide. There have been few natural history studies reporting neurodevelopmental characterization of PMM2-CDG. Thus, a prospective study was conducted that included neurodevelopmental assessments as part of deep phenotyping. This study, Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation (NCT02089789), included 14 participants (8 males and 6 females ages 2-33 years) with a confirmed molecular diagnosis of PMM2-CDG. Clinical features of PMM2-CDG in this cohort were neurodevelopmental disorders, faltering growth, hypotonia, cerebellar atrophy, peripheral neuropathy, movement disorders, ophthalmological abnormalities, and auditory function differences. All PMM2-CDG participants met criteria for intellectual disability (or global developmental delay if younger than age 5). The majority never attained certain gross motor and language milestones. Only two participants were ambulatory, and almost all were considered minimally verbal. Overall, individuals with PMM2-CDG present with a complex neurodevelopmental profile characterized by intellectual disability and multisystemic presentations. This systematic quantification of the neurodevelopmental profile of PMM2-CDG expands our understanding of the range in impairments associated with PMM2-CDG and will help guide management strategies.

Executive functions (EFs) are a set of cognitive processes that enable individuals to manage and coordinate their thoughts and actions toward achieving specific goals. EFs include planning, organizing, initiating, and monitoring actions, and have been found to improve with age due to the maturation of the brain, especially during childhood. Therefore, our correlational study sought to determine the relationship between the performance in executive functions and age in 79 children (36 girls, 45.6%) throughout development, between the ages of 6 and 12 (mean = 9.25; SD = 2.05), using a battery designed in Chile: BEFE (Batería de Evaluación de las Funciones Ejecutivas: Executive Function Assessment Battery) based on traditional neuropsychological tests to evaluate Working Memory, Inhibitory Control, Cognitive Flexibility, and Planning skills. Our results showed various correlations between the variables age and performance in various behavioral parameters, demonstrating an increase in the number of correct responses (positive correlation) and/or a decrease in errors (negative correlation) with age (6-12) in the subtests that correspond to dimensions of Cognitive Flexibility (Semantic and Phonological Fluency, Card Sorting Game, and Tracing Tasks), Inhibitory Control (ENA-F and Sentence Completion), Working Memory (Audio-verbal WM Forward and Ordering, and Visuospatial WM Forward and Backward), and Planning (La Portada de Antofagasta and FISA Maps). These results are consistent with previous empirical evidence and support the notion of a developmental relationship between EF performance and age. Additionally, this study contributes to understanding EF development in culturally specific contexts, highlighting the importance of contextually relevant assessment tools in evaluating cognitive development.

UNASSIGNED: Computerized neurocognitive testing is one component of a multidomain assessment of concussion. However, the use of computerized neurocognitive testing has been limited to patients aged 11 years and up, leaving clinicians with few options to evaluate younger children.
UNASSIGNED: To examine the change in Immediate Post-concussion Assessment and Cognitive Testing Pediatric (ImPACT Pediatric) (ImPACT Applications, 2021) scores and factors associated with performance in children aged 5-9 years following a concussion.
UNASSIGNED: Participants included 63 children (42% [n = 27] female) aged 5-9 (M = 7.5 ± 1.0) years within 30 (M = 8.5 ± 5.9) days of a concussion. All participants completed the ImPACT Pediatric at their initial visit and at medical clearance for their return to activity (RTA) visit. The ImPACT Pediatric test is a computerized neurocognitive battery that includes 5 tests that assess memory and visual processing speed. Multivariate and univariate analyses of variance and paired t-tests were used to compare ImPACT Pediatric scores from the initial visit to medical clearance. Multivariate and univariate analyses of covariance and multiple linear regression examined factors associated with ImPACT Pediatric performance.
UNASSIGNED: Participants demonstrated improved overall performance from the initial visit to the medical clearance visit (F(4, 59)=3.08, p = 0.02, Wilks\' Λ = 0.83, ηp2=0.17), with significant improvement in Rapid Processing Speed (F(1, 62)=7.48, p < 0.01, ηp2=0.11). When controlling for age, sex, history of ADHD, and days to clinic, the improvement in overall performance remained significant (F(4, 51)=2.99, p = 0.03, Wilks\' Λ = 0.81, ηp2=0.19). Older age was significantly associated with the Rapid Processing composite score at the initial visit (F(4, 59)=5.9, p < 0.001, Adj. R2=0.25) and medical clearance visit (F(4, 59)=3.8, p = 0.008, Adj. R2=0.16), with older children associated with better performance at both time points (Initial visit: B = 8.17, p < 0.001; Medical Clearance: B = 3.62, p = 0.03).
UNASSIGNED: Our main findings suggest that children aged 5-9 years improved significantly in Rapid Processing on the ImPACT Pediatric from the initial visit to medical clearance. However, no differences were found for the memory components of the ImPACT Pediatric. Older children also performed better on processing speed than younger children. The findings suggest that the processing speed components of ImPACT Pediatric are useful for monitoring improvements in neurocognitive functioning following concussion in children aged 5-9 years, but that age differences need to be considered when interpreting performance.

ObjectiveThis study aimed to evaluate prevalence rates (PRs) of neurocognitive impairment and its potential moderators among patients with rheumatoid arthritis (RA). MethodA systematic review of the available literature and data extraction was undertaken on 6 August 2021, with the update by 14 September 2023, by two reviewers independently. Literature was screened for reported rates of prevalence of neurocognitive impairment in RA patients. The meta-analysis was performed using RStudio with the \"meta\" library. ResultsTwenty-two studies that fulfilled all selection criteria were carefully analyzed. The PR of neurocognitive impairment was 0.49 [0.38-0.61] across all studies included in the review; 0.75 [0.54-0.88] for the MoCA; 0.56 [0.40-0.72] for the MMSE; and 0.26 [0.16-0.38] for comprehensive batteries. The meta-regression results indicated that, depending on the measurement method, the percentage of subjects with positive rheumatoid factor, women ratio, mean age of participants, mean duration of RA, and percentage of domains that had to be impaired to diagnose neurocognitive impairment turned out to be statistically significant moderators. ConclusionsNeurocognitive impairment is a clinically relevant condition in many RA patients, and its prevalence is alarming high.
Rheumatoid arthritis (RA) is a chronic systemic disease that has a significant negative impact on functioning. Difficulties experienced by RA patients described in the literature may involve various organs and systems, including the central nervous system. The results obtained in the review indicate that cognitive impairment may affect, depending on the measurement method, up to approximately 75% of the patients. Due to potential limitations related to cognitive dysfunctions, such as reduced compliance or difficulties in everyday functioning, such a high prevalence of neurocognitive dysfunctions is an argument for screening RA patients and developing appropriate support methods.

The purpose of a neuropsychological assessment is to describe a child\'s difficulties and strengths to enable treatments and contextual adjustments. Typically, the assessment is summarized in the form of a written clinical report. However, such texts have been criticized for being too difficult for parents and teachers to read and comprehend. The purpose of this pre-registered and randomized controlled study was to evaluate five writing rules to improve readability and accessibility in clinical reports: to structure the text with functional domains, exemplify cognitive tasks with examples from daily life, use examples from the daily life of the child, avoid jargon, and to write shorter sentences. We created two separate reports based on the same assessment information of a hypothetical child: one \"standard\" report, and one where the five writing rules were applied. One hundred teacher students at a teacher education program were randomized to read one of the reports, and then rated readability and answered a comprehension quiz. Results showed that the five writing rules led to improved ratings of readability, and helped readers recall more information immediately afterward. Effects were medium to large. Future studies need to investigate whether the findings generalize to parents and other potential readers. Additionally, future work should address how psychologists can be taught to improve their writing through writing guidelines. Clinical trial registration: https://aspredicted.org/ac96p.pdf.

The neuropsychological diagnosis and assessment of alexia remain formidable due to its multifaceted presentations and the intricate neural underpinnings involved. The current study employed a mixed-method design, incorporating cluster and thematic analyses, to illuminate the complexities of alexia assessment. We used the Web of Science and Scopus to retrieve articles spanning from 1985 to February 2024. Our selection was based on identified keywords in relation to the assessment and diagnosis of alexia. The analysis of 449 articles using CiteSpace (Version 6.3.R1) and VOSviewer (Version 1.6.19) software identified ten key clusters such as \'pure alexia\' and \'posterior cortical atrophy\', highlighting the breadth of research within this field. The thematic analysis of the most cited and recent studies led to eight essential categories. These categories were synthesized into a conceptual model that illustrates the interaction between neural, cognitive, and diagnostic aspects, in accordance with the International Classification of Functioning, Disability, and Health (ICFDH) framework. This model emphasizes the need for comprehensive diagnostic approaches extending beyond traditional reading assessments to include specific tasks like character identification, broader visual processing, and numerical tasks. Future diagnostic models should incorporate a diverse array of alexia types and support the creation of advanced assessment tools, ultimately improving clinical practice and research.

Objective: Performance below the actual abilities of the examinee can be measured using performance validity tests (PVTs). PVT failure negatively impacts the quality of the neuropsychological assessment. In our study, we addressed this issue by providing a brief corrective statement regarding invalidity to improve test-taking behavior. Methods: This study is a multisite single-blind randomized controlled trial in a consecutive sample of clinically referred adult patients (N = 196) in a general hospital setting. Patients who failed a PVT (n = 71) were randomly allocated to a corrective statement approach (CS; n = 39), in which a brief verbal corrective statement was given by the technician, or received no corrective statement upon indications of invalid performance (NO-CS; n = 32). Both groups (CS and NO-CS) were provided with the same subsequently repeated and newly administered tests. Results: There were no group (CS vs. NO-CS) differences on both the repeated and single-administered PVTs and standard cognitive tests. Furthermore, invalid performing participants benefited significantly less from the repeated test administration compared to the valid performing group. Conclusions: Our study found that a brief corrective within-session statement, to address PVT failure and improve test-taking behavior, did not improve consequent test performance. These results suggest limited value of a brief verbal corrective statement to influence performance below best of capabilities. It highlights the need for more research to identify more effective approaches that can enhance patients test-taking behavior. Ultimately, such efforts are critical in ensuring accurate diagnosis and effective treatment recommendations for patients.

OBJECTIVE: The Clock Drawing Test (CDT) is a widely used test for cognitive screening as its execution taps into a large number of cognitive functions. Because of the involvement of visuospatial abilities, the CDT is also commonly used to assess hemispatial neglect. In the present study, we introduce a new quantitative scoring method for the CDT that aims to measure the use of space for each half of the clock face and asymmetries of space use.
METHODS: Two measures are introduced: the explored space (ES) and used space (US) for each half of the clock, as well as two derived asymmetry indices. Such new measures were applied to CDTs of four groups of participants: right brain-damaged patients without visuospatial neglect, two groups of right brain-damaged patients with varying degrees of visuospatial neglect, and a group of neurologically healthy participants.
RESULTS: Analyses showed that only neglect patients explored and used the left clock half significantly less than the right one. This result was also confirmed by the asymmetry indices, where neglect patients showed a stronger rightward bias. For neglect patients, the US asymmetry index correlated with the patients\' scores on the neuropsychological tests. The analyses of receiver operating characteristic curves showed that left US and left ES scores had good accuracy in categorizing neglect patients.
CONCLUSIONS: The present work provides new quantitative indices of CDT space usage in hemispatial neglect. Cutoffs are provided for clinical practice.

UNASSIGNED: The neurological symptoms of Long COVID (LC) and the impact of neuropsychological manifestations on people\'s daily lives have been extensively described. Although a large body of literature describes symptoms, validating this with objective measures is important. This study aims to identify and describe the effects of Long COVID on cognition, balance, and the retinal fundus, and determine whether the duration of symptoms influences cognitive impairment.
UNASSIGNED: This cross-sectional study involved LC volunteers with cognitive complaint from public health centers in northern Barcelona who participated between January 2022 and March 2023. This study collected sociodemographic characteristics, information on substance use, comorbidities, and clinical data related to COVID-19. We measured five cognitive domains using a battery of neuropsychological tests. Balance was assessed through posturography and retinal vascular involvement by retinography.
UNASSIGNED: A total of 166 people with LC and cognitive complaints participated, 80.72% were women and mean age was 49.28 ± 8.39 years. The most common self-reported symptoms were concentration and memory deficit (98.80%), brain fog (82.53%) and insomnia (71.17%). The 68.67% presented cognitive deficit in at least one domain, with executive functions being the most frequent (43.98%). The 51.52% of the participants exhibited a dysfunctional pattern in balance, and 9.2% showed some alteration in the retina. There were no statistically significant differences between cognitive impairment and symptom duration.
UNASSIGNED: Our findings contribute to a more comprehensive understanding of the pathology associated with Long COVID. They highlight the diversity of self-reported symptoms, the presence of abnormal balance patterns, and some cognitive impairment. These findings underscore the necessity of addressing the clinical management of this condition in primary care through follow-up and the pursuit of multidisciplinary and comprehensive treatment.