Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency.

(1) Background: In hereditary creatine transporter deficiency (CTD), there is an absence of creatine in the brain and neurological symptoms are present, including severe language impairment. However, the pathological changes caused by creatine deficiency that generate neuropsychological symptoms have been poorly studied. (2) Aims: To investigate if the language impairment in CTD is underpinned by possible pathological changes. (3) Methods: We used MRI tractography to investigate the trophism of the left arcuate fasciculus, a white matter bundle connecting Wernicke's and Broca's language areas that is specifically relevant for language establishment and maintenance, in two patients (28 and 18 y.o.). (4) Results: The T1 and T2 MRI imaging results were unremarkable, but the left arcuate fasciculus showed a marked decrease in mean fractional anisotropy (FA) compared to healthy controls. In contrast, the FA values in the corticospinal tract were similar to those of healthy controls. Although white matter atrophy has been reported in CTD, this is the first report to show a selective abnormality of the language-relevant arcuate fasciculus, suggesting a possible region-specific impact of creatine deficiency.

Cognitive impairment assessment through handwriting (COGITAT) score: a novel tool that predicts cognitive state from handwriting for forensic and clinical applications.

Introduction: Handwriting deteriorates proportionally to the writer's cognitive state. Such knowledge is of special importance in the case of a contested will, where dementia of the testator is claimed, but medical records are often insufficient to decide what the testator's cognitive state really was. By contrast, if the will is handwritten, handwriting analysis allows us to gauge the testator's cognitive state at the precise moment when he/she was writing the will. However, quantitative methods are needed to precisely evaluate whether the writer's cognitive state was normal or not. We aim to provide a test that quantifies handwriting deterioration to gauge a writer's cognitive state. Methods: We consecutively enrolled patients who came for the evaluation of cognitive impairment at the Outpatient Clinic for Cognitive Impairment of the Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Sciences (DINOGMI) of the University of Genoa, Italy. Additionally, we enrolled their caregivers. We asked them to write a short text by hand, and we administered the Mini Mental State Examination (MMSE). Then, we investigated which handwriting parameters correlated with cognitive state as gauged by the MMSE. Results: Our study found that a single score, which we called the COGnitive Impairment Through hAndwriTing (COGITAT) score, reliably allows us to predict the writer's cognitive state. Conclusion: The COGITAT score may be a valuable tool to gage the cognitive state of the author of a manuscript. This score may be especially useful in contested handwritten wills, where clinical examination of the writer is precluded.

Toward Quantitative Neurology: Sensors to Assess Motor Deficits in Dementia.

Background: Alzheimer's disease (AD) is the most common neurodegenerative disorder which primarily involves memory and cognitive functions. It is increasingly recognized that motor involvement is also a common and significant aspect of AD, contributing to functional decline and profoundly impacting quality of life. Motor impairment, either at early or later stages of cognitive disorders, can be considered as a proxy measure of cognitive impairment, and technological devices can provide objective measures for both diagnosis and prognosis purposes. However, compared to other neurodegenerative disorders, the use of technological tools in neurocognitive disorders, including AD, is still in its infancy. Objective: This report aims to evaluate the role of technological devices in assessing motor involvement across the AD spectrum and in other dementing conditions, providing an overview of the existing devices that show promise in this area and exploring their clinical applications. Methods: The evaluation involves a review of the existing literature in the PubMed, Web of Science, Scopus, and Cochrane databases on the effectiveness of these technologies. 21 studies were identified and categorized as: wearable inertial sensors/IMU, console/kinect, gait analysis, tapping device, tablet/mobile, and computer. Results: We found several parameters, such as speed and stride length, that appear promising for detecting abnormal motor function in MCI or dementia. In addition, some studies have found correlations between these motor aspects and cognitive state. Conclusions: Clinical application of technological tools to assess motor function in people with cognitive impairments of a neurodegenerative nature, such as AD, may improve early detection and stratification of patients.

Attachment networks in young adults.

Introduction: This study investigated attachment networks in a sample of Italian young adults. Attachment networks were defined in terms of attachment functions, attachment strength, the presence of a primary figure, and full-blown attachments. Method: Participants were 405 young adults, and we studied the effects of the demographic variables of gender, romantic status (whether single, involved in a romantic relationship for less or more than 24 months) and employment (whether university students or workers) on the structure of attachment networks. Participants were asked to answer the WHO-TO questionnaire, and derived indexes were analyzed using mixed ANOVAs, linear and logistic regression techniques. Results: Results indicated that while friends still had great importance in the network, partners were acquiring increasing relevance; at the same time, parents, and particularly mothers, remained central figures, particularly for the secure base function. Regarding the demographic variables, we observed that women reported stronger bonds with their mothers than men did, while the importance of friends was higher for men than for women. Additionally, our study supports previous findings underlining the importance of romantic partners in this phase of life, with participants involved in romantic relationships for longer than 24 months showing a fully developed attachment bond with their partners. Finally, for workers, the transfer of functions from the family-of-origin to external figures seemed to be fostered. Discussion: In conclusion, young Italian young adults go through a phase of intensive restructuring of attachment bond networks, particularly in relation to the consolidation of romantic relationships and work commitments.