Neuropsychological Examination Research Articles

Validation of a German version of the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID-G) in Down's syndrome.

People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS-AD) due to a triplication of the amyloid precursor protein gene. While several tools to diagnose and screen for DS-AD, such as the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID), are available in English, validated German versions of such instruments are scarce. A German version of the DSQIID questionnaire (DSQIID-G) was completed by caregivers before attending our specialist outpatient department for DS-AD. All participants were assessed blind to DSQIID-G scoring using clinical and neuropsychological examinations, including the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS). ICD-10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline. Of 86 participants, 43 (50%) showed evidence of cognitive decline. A definite diagnosis of DS-AD was reached in 17 (19.8%) and mild cognitive impairment in seven (8.3%) participants. Secondary causes of cognitive decline were determined among 13 (15.1%) participants, and in six (7%) cases, the diagnosis remained unclassifiable due to co-morbidities. Compared with cognitively stable individuals, participants with cognitive decline (n=43) displayed higher DSQIID-G total scores [median (range): 3 (0-21) vs. 19 (0-48), P<0.001]. A total score of >7 provided a sensitivity of 0.94 against a specificity of 0.76, to discriminate DS-AD and participants without cognitive decline according to ROC analysis. The convergent validity against the CAMDEX-DS interview score was good (r=0.74), and split-half reliability (r=0.96), internal consistency (Cronbach's α r=0.96), test-retest reliability (r=0.88) (n=25) and interrater reliability (r=0.81) (n=31) were excellent. The DSQIID-G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut-off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID-G, a lower cut-off is preferable to increase case detection.

Frontal allographic agraphia in a patient with behavioral variant frontotemporal dementia

ABSTRACT We report a patient with behavioral variant frontotemporal dementia who developed agraphia, irritability, perseverative and stereotyped behavior, and dietary changes. MRI revealed bilateral frontal convexity atrophy. Neuropsychological examination showed fluent aphasia with perseverative allographic agraphia, mild semantic impairment, and dysexecutive syndrome. Allographic agraphia featured unidirectional conversion from hiragana (cursive form of Japanese phonograms) and kanji (Japanese morphograms) to katakana (square form of Japanese phonograms), as opposed to mutual (bidirectional) conversion between hiragana and katakana in parieto-occipital gyri lesions. Furthermore, all letters of the word were converted and this whole-word conversion may be characteristic of perseverative behavior in frontotemporal dementia.

CACNA1A variant associated with generalized dystonia.

CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1. Despite dystonia not being a typical manifestation of CACNA1A variants, there are reports indicating a link between this gene mutation and dystonic features. We report the case of a patient with a novel missense variant of the CACNA1A gene presenting headache, head and arm tremor, dystonia, episodic painful focal dystonic attacks, and unexplained falls. A 57-year-old woman presented with a history of neck dystonia, head and arm tremor, and headaches since age 15. In 2017, she progressively developed dystonic tremor of the head and arms with an unremarkable brain MRI. In 2018 she experienced worsening of tremor and developed painful dystonic attacks, resistant to treatments including clonazepam, trihexyphenidyl, baclofen, and levodopa/benserazide. Botulinum toxin injections for neck dystonia provided limited benefit. The next-generation sequencing exam revealed a CACNA1A gene missense variant (NM_023035.2:c.1630C > T; p.Arg544Trp). In 2021 we observed a worsening of dystonia, accompanied by weight loss, mood changes, and unexplained falls. Deep brain stimulation was considered but ruled out due to cortical atrophy and mild cognitive deficits revealed by the neuropsychological examination. Only a few studies reported dystonia as part of the clinical features in carriers of CACNA1A mutations. This case points out the relevance of a need to expand the literature on voltage-dependent P/Q-type Ca2 + channels' role in dystonia's pathogenesis and stresses the complex phenotype-genotype presentation of CACNA1A mutation.

Neuropsychological and psychometric parameters in the patients with duodenal ulcer depending on Helicobacter pylori presence

Neuropsychological and psychometric parameters in the patients with duodenal ulcer depending on Helicobacter pylori presence

Efficacy of non-computerized cognitive rehabilitation in Parkinson’s disease: A one year follow up study

In this study, we explored the effect of non-computerized cognitive rehabilitation in patients with Parkinson’s disease in comparison with an intervention with elements of music therapy after the completion of a three-month program and one year after the end of the intervention. After the initial neuropsychological examination, the respondents were divided into two intervention groups. The experimental group (n = 26) underwent a twelve-week program of cognitive rehabilitation at a frequency of 60 minutes once a week. The control group (n = 27) underwent an intervention program with elements of music therapy at the same frequency. Respondents who underwent the cognitive rehabilitation program improved in the delayed recall from visual memory in the follow-up examination after the end of the cognitive intervention. One year after the end, the effect of cognitive rehabilitation persisted in delayed recall from visual memory and in executive mental flexibility. Cognitive rehabilitation is an effective approach to compensate for cognitive deficits in P D, but other approaches to cognitive stimulation may be equally effective.

The Association of Ancillary Diagnostic Tests With Outcome in Dementia

ObjectivesDementia is a clinical diagnosis without curative treatment. It is uncertain whether ancillary testing is beneficial for patients. This study investigates the association between use of diagnostic tests and time to poor outcome and health care costs. DesignNationwide register-based cohort study using health care reimbursement data in the Netherlands. Setting and participantsAll Dutch hospitals, including 13,312 patients diagnosed with dementia in 2018. MethodsDiagnostic testing included computed tomography or magnetic resonance imaging (CT/MRI), neuropsychological examination (NPE), nuclear imaging (PET/SPECT), electroencephalography (EEG), and cerebrospinal fluid (CSF) testing. We compared time to poor outcome (institutionalization or death) and costs per month from 2018 to 2021 between those who underwent a specific diagnostic test in previous years to controls, propensity score matched for age, sex, type of hospital, and comorbidity. ResultsTime to poor outcome in those who underwent CT/MRI, EEG, or CSF testing was similar to those who did not, but was longer for those who underwent NPE. Time to poor outcome was shorter in patients who underwent PET/SPECT. Patients who underwent CSF testing or PET/SPECT had higher mean total health care costs as compared to controls (CSF €248, 95% CI 64-433; PET/SPECT: €315, 95% CI 179-451). NPE during the diagnostic trajectory was associated with lower total health care cost (–€127, 95% CI –62, –193). Conclusion and implicationsNPE was associated with longer time to poor outcome and lower health care costs, potentially due to confounding by indication. Patients who underwent neuroimaging (CT, MRI, SPECT/PET), CSF testing, or EEG for dementia diagnostics did not experience a longer time to poor outcome or lower health care costs. This emphasizes the importance of clinical examination as anchor for the diagnosis of dementia.

Structural and microstructural predictors of cognitive decline in deep brain stimulation of subthalamic nucleus in Parkinson’s disease

Background and objectivesThe intricate relationship between deep brain stimulation (DBS) in Parkinson’s disease (PD) and cognitive impairment has lately garnered substantial attention. The presented study evaluated pre-DBS structural and microstructural cerebral patterns as possible predictors of future cognitive decline in PD DBS patients. MethodsPre-DBS MRI data in 72 PD patients were combined with neuropsychological examinations and follow-up for an average of 2.3 years after DBS implantation procedure using a screening cognitive test validated for diagnosis of mild cognitive impairment in PD in a Czech population – Dementia Rating Scale 2. ResultsPD patients who would exhibit post-DBS cognitive decline were found to have, already at the pre-DBS stage, significantly lower cortical thickness and lower microstructural complexity than cognitively stable PD patients. Differences in the regions directly related to cognition as bilateral parietal, insular and cingulate cortices, but also occipital and sensorimotor cortex were detected. Furthermore, hippocampi, putamina, cerebellum and upper brainstem were implicated as well, all despite the absence of pre-DBS differences in cognitive performance and in the position of DBS leads or stimulation parameters between the two groups. ConclusionsOur findings indicate that the cognitive decline in the presented PD cohort was not attributable primarily to DBS of the subthalamic nucleus but was associated with a clinically silent structural and microstructural predisposition to future cognitive deterioration present already before the DBS system implantation.

Changes in overlap of subjective and objective cognition over time in epilepsy surgery candidates

Purpose: Subjective and objective cognition often show weak overlap in persons with epilepsy (PWE). Over- as well as underestimation may occur. In particular after epilepsy surgery, objective memory decline is often not subjectively reported. Additionally, studies on how concordance of subjective and objective cognition changes over time are missing. Therefore, we study the extent of concordance in operated and non-operated PWE over time. Methods: Candidates for resective epilepsy surgery were assessed between 03/18 and 12/20 (T1) with self-report questionnaires and underwent a neuropsychological examination. For 21 operated as well as 27 non-operated PWE follow-up data was obtained one to three years later (T2). Concordance of attention and memory were compared between groups and time points. Moreover, reliable change was calculated and compared between groups. Results: Of the total sample, 42% rated their attention performance realistically and 25% showed memory concordance. Differences in patterns of over- and underestimation between groups and over time occurred for attention, but not for memory. Overestimation of memory was more frequent in operated than non-operated PWE, especially at T2 (67% vs. 11%). In the operated group, we mainly observed reliable improvement in subjective cognition and decline in objective memory, whereas non-operated PWE showed more frequently decline of simple attention. Reliable subjective and objective change did not co-occur. Conclusion: Concordance of subjective and objective cognition is low. Over- as well as underestimation may persist over time. Domain-specific perspectives are necessary. Tendencies of operated PWE to develop overestimation of memory after surgery should be considered in neuropsychological interventions.

Resting state EEG relates to short- and long-term cognitive functioning after cardiac arrest

BackgroundApproximately half of cardiac arrest survivors have persistent cognitive impairment. Guidelines recommend early screening to identify patients at risk for cognitive impairment, but there is no consensus on the best screening method. We aimed to identify quantitative EEG measures relating with short- and long-term cognitive function after cardiac arrest for potential to cognitive outcome prediction. MethodsWe analyzed data from a prospective longitudinal multicenter cohort study designed to develop a prediction model for cognitive outcome after cardiac arrest. For the current analysis, we used twenty-minute EEG registrations from 80 patients around one week after cardiac arrest. We calculated power spectral density, normalized alpha-to-theta ratio (nATR), peak frequency, and center of gravity (CoG) of this peak frequency. We related these with global cognitive functioning (scores on the Montreal Cognitive Assessment (MoCA)) at one week, three and twelve months follow-up with multivariate mixed effect models, and with performance on standard neuropsychological examination at twelve months using Pearson correlation coefficients. ResultsEach individual EEG parameter related to MoCA at one week (βnATR=7.36; P<0.01; βpeak frequency=1.73, P<0.01; βCoG=-9.88, P <0.01). The nATR also related with the MoCA at three months ((βnATR=2.49; P 0.01). No EEG metrics significantly related to the MoCA score at twelve months. nATR and peak frequency related with memory performance at twelve months. Results were consistent in sensitivity analyses. ConclusionEarly resting-state EEG parameters relate with short-term global cognitive functioning and with memory function at one year after cardiac arrest. Additional predictive values in multimodal prediction models need further study.

Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.

Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on single case reports, neuropathological data in OPTN mutation carriers have revealed transactive response DNA-binding protein 43 kDa (TDP-43) pathology, in addition to accumulations of tau and alpha-synuclein. Herein, we present two siblings from a consanguineous family with a homozygous frameshift mutation in the OPTN gene and different clinical presentations. Both affected siblings underwent (i) clinical, (ii) neurophysiological, (iii) neuropsychological, (iv) radiological, and (v) laboratory examinations, and (vi) whole-exome sequencing (WES). Postmortem histopathological examination was conducted in the index patient, who deceased at the age of 41. The index patient developed rapidly progressing clinical features of upper and lower motor neuron dysfunction as well as apathy and cognitive deterioration at the age of 41. Autopsy revealed an ALS-FTLD pattern associated with prominent neuronal and oligodendroglial TDP-43 pathology, and an atypical limbic 4-repeat tau pathology reminiscent of argyrophilic grain disease. The brother of the index patient exhibited behavioral changes and mnestic deficits at the age of 38 and was diagnosed with behavioral FTD 5 years later, without any evidence of motor neuron dysfunction. WES revealed a homozygous frameshift mutation in the OPTN gene in both siblings (NM_001008212.2: c.1078_1079del; p.Lys360ValfsTer18). OPTN mutations can be associated with extensive TDP-43 pathology and limbic-predominant tauopathy and present with a heterogeneous clinical phenotype within the ALS-FTD spectrum within the same family.

Investigating the Link Between Subjective Depth Perception Deficits and Objective Stereoscopic Vision Deficits in Individuals With Acquired Brain Injury.

Individuals with acquired brain injury have reported subjective complaints of depth perception deficits, but few have undergone objective assessments to confirm these deficits. As a result, the literature currently lacks reports detailing the correlation between subjective depth perception deficits and objective stereoscopic vision deficits in individuals with acquired brain injury, particularly those cases that are characterized by a clearly defined lesion. To investigate this relationship, we recruited three individuals with acquired brain injury who experienced depth perception deficits and related difficulties in their daily lives. We had them take neurologic, ophthalmological, and neuropsychological examinations. We also had them take two types of stereoscopic vision tests: a Howard-Dolman-type stereoscopic vision test and the Topcon New Objective Stereo Test. Then, we compared the results with those of two control groups: a group with damage to the right hemisphere of the brain and a group of healthy controls. Performance on the two stereoscopic vision tests was severely impaired in the three patients. One of the patients also presented with cerebral diplopia. We identified the potential neural basis of these deficits in the cuneus and the posterior section of the superior parietal lobule, which play a role in vergence fusion and are located in the caudal region of the dorso-dorsal visual pathway, which is known to be crucial not only for visual spatial perception, but also for reaching, grasping, and making hand postures in the further course of that pathway.

Ability of the Wisconsin Card-Sorting Test-64 as an embedded measure to identify noncredible neurocognitive performance in mild traumatic brain injury litigants

Objective To investigate the ability of selective measures on the Wisconsin Card Sorting Test-64 (WCST-64) to predict noncredible neurocognitive dysfunction in a large sample of mild traumatic brain injury (mTBI) litigants. Method Participants included 114 adults who underwent a comprehensive neuropsychological examination. Criterion groups were formed based upon their performance on stand-alone measures of cognitive performance validity (PVT). Results Participants failing PVTs performed worse across all WCST-64 dependent variables of interest compared to participants who passed PVTs. Receiver operating curve analysis revealed that only categories completed was a significant predictors of PVT status. Multivariate logistic regression did not add to classification accuracy. Conclusion Consideration of noncredible executive functioning may be warranted in mild traumatic brain injury (mTBI) litigants who complete ≤ 1 category on the WCST-64.

The association of neighborhood socioeconomic status with executive function and processing speed in cognitively normal Mexican Americans elders from the Health and Aging Brains Study - Health Disparities cohort.

Neighborhood socioeconomic status (NSES) has been linked with overall health, and this study will evaluate whether NSES is cross-sectionally associated with cognition in non-Hispanic Whites (NHW) and Mexican Americans (MA) from the Health and Aging Brain: Health Disparities Study (HABS-HD). The HABS-HD is a longitudinal study conducted at the University of North Texas Health Science Center. The final sample analyzed (n=1312) were 50 years or older, with unimpaired cognition, and underwent an interview, neuropsychological examination, imaging, and blood draw. NSES was measured using the national area deprivation index (ADI) percentile ranking, which considered socioeconomic variables. Executive function and processing speed were assessed by the trail making tests (A and B) and the digit-symbol substitution test, respectively. Linear regression was used to assess the association of ADI and cognitive measures. MA were younger, more likely to be female, less educated, had higher ADI scores, performed worse on trails B (all p&lt;0.05), and have lower prevalence of APOE4+ (p&lt;0.001), when compared to NHW. A higher percentage of MA lived in the most deprived neighborhoods than NHW. For NHW, ADI did not predict trails B or DSS scores, after adjusting for demographic variables and APOE4. For MA, ADI predicted trails A, trails B, and DSS after adjusting for demographic covariates and APOE4 status. Our study revealed that living in an area of higher deprivation was associated with lower cognitive function in MA but not in NHW, which is important to consider in future interventions to slow cognitive decline.

Longitudinal determinants of employment status in people with relapsing-remitting multiple sclerosis

PurposeTo investigate longitudinal relationships between employment status and disease-related, (neuro)psychological, and work-related factors in people with multiple sclerosis (MS). Methods170 employed people with MS underwent yearly neurological and neuropsychological examinations to assess MS-related disability and cognitive functioning. Additionally, they completed yearly questionnaires assessing depression, anxiety, fatigue, cognitive complaints, workplace support and coping. Multilevel models for change were fitted to examine progression of these factors over three years, and to assess possible relationships with change in employment status. ResultsPeople with a deteriorated employment status after three years reported more depression (p=0.009), a higher impact of fatigue (p<0.001), more cognitive complaints (p<0.001) and less workplace support (p=0.001) at baseline than people with a stable employment status. There were no differences in progression over time of the examined variables between people with a stable or deteriorated employment status. ConclusionMore depression, a higher impact of fatigue, more cognitive complaints and less workplace support are predictive of a deteriorated employment status after three years in individuals with MS. How these factors progress over time is not different between those with a stable or deteriorated employment. MS-related disability, anxiety, objective cognition and coping were not related to a deterioration in employment status.

Vascular dysfunction in sporadic bvFTD: white matter hyperintensity and peripheral vascular biomarkers

BackgroundVascular dysfunction was recently reported to be involved in the pathophysiological process of neurodegenerative diseases, but its role in sporadic behavioral variant frontotemporal dementia (bvFTD) remains unclear. The aim of this study was to systematically explore vascular dysfunction, including changes in white matter hyperintensities (WMHs) and peripheral vascular markers in bvFTD.MethodsThirty-two patients with bvFTD who with no vascular risk factors were enrolled in this cross-sectional study and assessed using positron emission tomography/magnetic resonance (PET/MRI) imaging, peripheral plasma vascular/inflammation markers, and neuropsychological examinations. Group differences were tested using Student’s t-tests and Mann–Whitney U tests. A partial correlation analysis was implemented to explore the association between peripheral vascular markers, neuroimaging, and clinical measures.ResultsWMH was mainly distributed in anterior brain regions. All peripheral vascular factors including matrix metalloproteinases-1 (MMP-1), MMP-3, osteopontin, and pentraxin-3 were increased in the bvFTD group. WMH was associated with the peripheral vascular factor pentraxin-3. The plasma level of MMP-1 was negatively correlated with the gray matter metabolism of the frontal, temporal, insula, and basal ganglia brain regions. The WMHs in the frontal and limbic lobes were associated with plasma inflammation markers, disease severity, executive function, and behavior abnormality. Peripheral vascular markers were associated with the plasma inflammation markers.ConclusionsWMHs and abnormalities in peripheral vascular markers were found in patients with bvFTD. These were found to be associated with the disease-specific pattern of neurodegeneration, indicating that vascular dysfunction may be involved in the pathogenesis of bvFTD. This warrants further confirmation by postmortem autopsy. Targeting the vascular pathway might be a promising approach for potential therapy.

Особенности криминального поведения обвиняемых в совершении особо тяжких преступлений с различными нарушениями функций программирования, регуляции и контроля психической деятельности (Часть 2)

&lt;p style="text-align: justify;"&gt;The purpose of our study was the features of criminal behavior of the accused in the commission of particularly serious crimes in the context of the formation functions of programming and control. The sample consisted of 59 men aged 18&amp;mdash;60 years, of those accused of committing particularly serious crimes aimed at a forensic psychiatric examination, the average age was 33.7 years. The methods of neuropsychological examination and psychological analysis of criminal cases were used. Syndrome of defeat of the basal divisions of the frontal lobes, prefrontal syndrome, syndrome of defeat of the medial divisions of the frontal lobes, Postfrontal (premotor) syndrome is most often seen among persons accused of particularly serious crimes. The criminal behavior of the accused in the Commission of particularly serious crimes was characterized by uncritical damage to the basal parts of the frontal lobes. The impulsivity is the main characteristic of the criminal behavior of the accused in especially serious crimes with the defeat of the prefrontal frontal lobe (prefrontal syndrome). Subjects with the defeat of the kinetic (dynamic) factor differed greater rigidity of criminal behavior. The behavior of those accused of committing particularly serious crimes was passive (energy-saving) in violation of the energy factor in the case of damage to the medial parts of the frontal lobes. The obtained results can be used to solve the issues of drawing a portrait of an unknown criminal, as well as in the course of correctional work with persons prone to repeat illegal behavior.&lt;/p&gt;

Clinical and diagnostic features of repeated mild traumatic brain injuries

Repeated mild traumatic brain injury (TBI) leads to new changes and exacerbates the existing ones caused by the primary trauma. The pathogenetic mechanisms of repeated TBI are the result of traumatic effects and their cumulation. They cause various morphological and functional changes in the brain. Objective — to improve the diagnosis of pathological changes in patients with repeated mild traumatic brain injury. Materials and methods. The study involved 199 patients with a history of repeated mild TBI. Men predominated among them — 158 (79.40 %). There were 80 (40.20 %) patients of youthful age (17—24 years), 78 (39.20 %) of young age (25—44 years), and 41 (20.60 %) of middle-aged (45—60 years). The number of repeated TBIs per patient ranged from two to five. All patients were examined in the remote period of TBI. The control group consisted of 30 people aged 18 to 50 years (mean age — (33.11 ± 3.09) years) who had no history of TBI. Cognitive impairment (CI) was assessed by neuropsychological examination using the Mini-Mental State Examination (MMSE), the Frontal Area Battery (FAB), and the clock drawing test. Methods of neuropsychological analysis, neuroimaging and neurophysiological methods were used. The data of clinical and neurological examinations and studies of cognitive functions were analyzed, structural changes of the brain and cerebrospinal tract were established on the basis of neuroimaging studies of the brain, and the peculiarities of cerebral hemodynamics in patients with mild repeated TBI were determined. The characteristics of neurophysiological changes in patients are given based on the study of the features of electroencephalographic changes and the study of cognitive evoked potentials of the brain. The immune status was evaluated in patients who had repeated mild TBI. Results. Repeated TBI in our study was observed in the form of mild concussions and brain contusions. Their number in one patient ranged from 1 to 5. Clinical manifestations of repeated mild TBI had peculiarities: cephalalgic, cerebral and cerebrospinal hypertensive syndrome, cognitive impairment, diffuse neurological symptoms, and pyramidal insufficiency prevailed in the clinical picture. Only in the main group were cases of a combination of three to eight neurological syndromes detected. A decrease in cognitive function was found in patients with repeated mild TBI compared to the control group according to neuropsychological testing. The analysis of cognitive evoked potentials revealed an increase in the latent period of the cognitive complex P300 in patients with repeated TBI compared with the control group, indicating a decrease in cognitive function. More frequent CP was detected in the main group. The use of modern neuroimaging methods revealed that patients with repeated TBI had increased width of the lateral ventricles on both sides, ventricle III, and the cavity of the septum compared with the control group, as well as a higher frequency of expansion of the septum and convexity of the subarachnoid spaces. Patients with repeated mild TBI are characterised by an increase in blood flow velocity in the extracranial parts of the carotid basin and a decrease in velocity in the vessels of the vertebrobasilar basin with a change in vascular resistance, in the segments of the intracranial part of the carotid basin — a decrease in blood flow velocity without a change in vascular resistance. Disorders of venous cerebral circulation (increased velocity in the internal jugular vein and Rosenthal veins) were recorded in the majority of the main group. According to the data of the CEG, in patients with repeated TBI against the background of diffuse changes in brain bioelectrical activity, focal changes in the left hemisphere of the brain are more common. Dominant arrhythmia was recorded in 97.78 % of patients in the main group. The amplitude of arrhythmia in patients with repeated TBI is lower compared to the control group, and the frequency of arrhythmic oscillations is higher. Conclusions. The use of clinical and diagnostic control allows to prevent the development of damage and obtain objective information about the state of the brain and its structures.

Sensor-Based Quantitative Assessment of Children's Fine Motor Competence: An Instrumented Version of the Placing Bricks Test.

The assessment of fine motor competence plays a pivotal role in neuropsychological examinations for the identification of developmental deficits. Several tests have been proposed for the characterization of fine motor competence, with evaluation metrics primarily based on qualitative observation, limiting quantitative assessment to measures such as test durations. The Placing Bricks (PB) test evaluates fine motor competence across the lifespan, relying on the measurement of time to completion. The present study aims at instrumenting the PB test using wearable inertial sensors to complement PB standard assessment with reliable and objective process-oriented measures of performance. Fifty-four primary school children (27 6-year-olds and 27 7-year-olds) performed the PB according to standard protocol with their dominant and non-dominant hands, while wearing two tri-axial inertial sensors, one per wrist. An ad hoc algorithm based on the analysis of forearm angular velocity data was developed to automatically identify task events, and to quantify phases and their variability. The algorithm performance was tested against video recordings in data from five children. Cycle and Placing durations showed a strong agreement between IMU- and Video-derived measurements, with a mean difference <0.1 s, 95% confidence intervals <50% median phase duration, and very high positive correlation (ρ > 0.9). Analyzing the whole population, significant differences were found for age, as follows: six-year-olds exhibited longer cycle durations and higher variability, indicating a stage of development and potential differences in hand dominance; seven-year-olds demonstrated quicker and less variable performance, aligning with the expected maturation and the refined motor control associated with dominant hand training during the first year of school. The proposed sensor-based approach allowed the quantitative assessment of fine motor competence in children, providing a portable and rapid tool for monitoring developmental progress.

Cognitive phenotype and neurodegeneration associated with Tau in Huntington's disease.

The clinical phenotype of Huntington's disease (HD) can be very heterogeneous between patients, even when they share equivalent CAG repeat length, age, or disease burden. This heterogeneity is especially evident in terms of the cognitive profile and related brain changes. To shed light on the mechanisms participating in this heterogeneity, the present study delves into the association between Tau pathology and more severe cognitive phenotypes and brain damage in HD. We used a comprehensive neuropsychological examination to characterize the cognitive phenotype of a sample of 30 participants with early-to-middle HD for which we also obtained 3 T structural magnetic resonance image (MRI) and cerebrospinal fluid (CSF). We quantified CSF levels of neurofilament light chain (NfL), total Tau (tTau), and phosphorylated Tau-231 (pTau-231). Thanks to the cognitive characterization carried out, we subsequently explored the relationship between different levels of biomarkers, the cognitive phenotype, and brain integrity. The results confirmed that more severe forms of cognitive deterioration in HD extend beyond executive dysfunction and affect processes with clear posterior-cortical dependence. This phenotype was in turn associated with higher CSF levels of tTau and pTau-231 and to a more pronounced pattern of posterior-cortical atrophy in specific brain regions closely linked to the cognitive processes affected by Tau. Our findings reinforce the association between Tau pathology, cognition, and neurodegeneration in HD, emphasizing the need to explore the role of Tau in the cognitive heterogeneity of the disease.

The impact of aerobic endurance training on cognitive performance in schizophrenic inpatients in a clinical routine setting.

The primary aim of this study was to investigate the impact of aerobic endurance training in schizophrenic inpatients on cognitive performance in a clinical routine setting. Of secondary interest was the influence on psychopathological symptoms. A total of 31 schizophrenic inpatients were randomly assigned to receive either controlled endurance training or occupational therapy. The experimental group underwent endurance training of 20-30min each, 3 times per week for a total of up to 22 training sessions. The control group received about 90min of occupational therapy, 2-3 times per week for up to 22 sessions. Cognitive performance was assessed via an extensive neuropsychological examination before randomization and prior to discharge. Significant improvements in cognitive functions and psychopathology could be shown in both groups. For verbal memory functions (short-term memory, working memory, and learning performance), there was a significant advantage for the aerobic endurance training group. Physical exercise is a feasible, easy-to-implement add-on therapy for schizophrenic patients in a clinical routine setting with positive effects on verbal memory functions. Besides, it seems important to fill the gap between inpatient and outpatient health care, providing physical training supply for this patient group.