The Lack of Ad Hoc Neuropsychological Assessment in Adults with Neurofibromatosis: A Systematic Review.

Background: Neurofibromatosis Type 1 (NF1) is a genetic autosomal dominant disorder that affects both the central and peripheral nervous systems. Children and adolescents with NF1 commonly experience neuropsychological, motor, and behavioral deficits. The cognitive profile hallmark of this disorder includes visuospatial and executive function impairments. These cognitive disorders may persist into adulthood. This study aims to analyze previous research studies that have described cognitive dysfunctions in adults with NF1. The purpose of this analysis is to review the neuropsychological and psychological assessment methods used. Methods: A total of 327 articles were identified based on the search terms in their titles and abstracts. The evaluation was conducted by scrutinizing each article's title, abstract, and text. Results: Only 16 articles were found to be eligible for inclusion based on the pre-defined criteria. The selected studies primarily focus on the development of diagnostic protocols for individuals with NF1. Conclusions: The management of NF1 disease requires a multidisciplinary approach to address symptoms, preserve neurological functions, and ensure the best possible quality of life. However, cognitive impairment can negatively affect psychological well-being. This study suggested that cognitive functions in NF1 patients were not tested using specific measures, but rather were evaluated through intelligence scales. Additionally, the findings revealed that there is no standardized neuropsychological assessment for adults with NF1. To address this gap, it would be helpful to create a specific neuropsychological battery to study cognitive function in NF1 patients during clinical studies. This battery could also serve as a tool to design models for cognitive rehabilitation by using reliable and sensitive measures of cognitive outcomes.

Applications of Artificial Intelligence in the Neuropsychological Assessment of Dementia: A Systematic Review.

In the context of advancing healthcare, the diagnosis and treatment of cognitive disorders, particularly Mild Cognitive Impairment (MCI) and Alzheimer's Disease (AD), pose significant challenges. This review explores Artificial Intelligence (AI) and Machine Learning (ML) in neuropsychological assessment for the early detection and personalized treatment of MCI and AD. The review includes 37 articles that demonstrate that AI could be an useful instrument for optimizing diagnostic procedures, predicting cognitive decline, and outperforming traditional tests. Three main categories of applications are identified: (1) combining neuropsychological assessment with clinical data, (2) optimizing existing test batteries using ML techniques, and (3) employing virtual reality and games to overcome the limitations of traditional tests. Despite advancements, the review highlights a gap in developing tools that simplify the clinician's workflow and underscores the need for explainable AI in healthcare decision making. Future studies should bridge the gap between technical performance measures and practical clinical utility to yield accurate results and facilitate clinicians' roles. The successful integration of AI/ML in predicting dementia onset could reduce global healthcare costs and benefit aging societies.

The effects of caregiver's burden on dynamic structure in disorder of consciousness families: An observational study.

INTRODUCTION: Disorder of consciousness is a clinical condition due to severe brain damage. The impact of consciousness disorder on the family is characterized by a combination of biopsychosocial factors. The burden and suffering perceived by caregivers can cause psychological distress characterized by anxiety, depression, and physical illness. The aim of the study was to investigate the interaction between family dynamics and caregiver burden. METHODS: We enlisted 35 caregivers of subjects in a minimally conscious state. Two skilled psychologists administered the Olson's Adaptability and Family Cohesion Assessment Scale and the Novak's Burden Inventory Caregiver Scale to assess family function and family burden, respectively. RESULTS: We found that the caregiver burden correlates with the family adaptability and cohesion, as well as with enmeshment, rigidity, and disengagement. CONCLUSION: Findings suggest that the traumatic event does not affect the family structure. Families are able to maintain a balanced functioning and control distress.

Neurophysiological assessment in a patient affected by Marfan syndrome.

BACKGROUND: Marfan syndrome (MS) is a hereditary connective tissue disorder characterized by different multiorgan patterns. The guidelines for MS diagnosis do not highlight the usefulness-or even the use-of any neurophysiological techniques for diagnosing this disease. Moreover, few neurophysiological studies assessing the central and peripheral nervous systems in MS subjects have been reported to date.Case presentation: We describe a male patient affected by MS. To assess sensory and nociceptive pathways in this patient, a neurophysiological assessment was performed using electroencephalogram, nerve conduction studies, and somatosensory and laser-evoked potentials. To the best of our knowledge, this is the first published case report to evaluate the role of evoked potential assessments for the study of sensory and nociceptive pathways in MS. CONCLUSION: Future studies should investigate the use of a complete neurophysiological approach for the clinical and therapeutic management of MS patients in a large sample.

Assessment of insight in hospitalized neurological patient: Cognitive profile and mood disorder.

PURPOSE: Many studies have evaluated the characteristics of insight, especially in psychiatric patient populations. However, this construct has been poorly examined within neurological disorders. We explored the relationship between altered insight, mood disorders and neurocognitive functioning in a sample of patients admitted to a neurological rehabilitation unit. METHOD: Each patient, at the time of hospitalization (T0), underwent an evaluation of the overall cognitive profile, of the frontal functions, and the compilation of scales aimed at investigating the 4 domains under examination of insight and anxiety-depressive symptomatology. After 3 months (T1), at the end of the rehabilitative and supportive treatment, the patients underwent the same evaluation performed at T0. RESULTS: Our results showed significant differences between T0 and T1 in the variables examined related to insight. In particular, there was a correlation between the global cognitive profile, including executive functions, and all insight domains. This confirms how the degree of cognitive deficit, especially of executive type, affects all levels of awareness of the individual. We have also found correlations between mood disorders and insight. In particular, our results show that depression versus anxiety plays a fundamental role in a person's awareness. CONCLUSIONS: The study of insight is fundamental not only for the relapses it could have on the patient, but also on those to health care professionals. In fact, having an adequate insight could lead to a greater motivation of the patient to be more complimentary to pharmacological and rehabilitative therapies, also favoring social reintegration.

Assessment of spinal cord stimulation and radiofrequency: Chronic pain and psychological impact.

Pain has a major impact on anxiety and depression levels. The aim of this study is to demonstrate how these symptoms (depression and anxiety) could positively influence the perception of pain after neurostimulation system implantation.We enrolled 100 patients and divided in 2 different groups, by using tests screening such as Beck Depression Inventory (BDI), Hamilton Anxiety Rating Scale (HAM-A), Nursing Rating Scale (NRS): the group with spinal cord stimulation (SCS) and the group with pulsed spinal cord radiofrequency (RFP).We highlighted a significant decrease of scores (BDI, HAM-A, NRS) in each group between T0 (baseline) and T1. Moreover, the intra-group analysis showed a positive significant correlation between NRS and depressive and anxiety symptoms.We assert that the use of alternative methods (SCS and RFP) to the traditional pharmaceutical-surgical treatments, provide the reduction of the algic and anxiety-depressant symptoms, restoring also the perception of psychological well-being.

Neuropsychological assessment and clinical evaluation in temporal lobe epilepsy with associated cortical dysplasia.

Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder, often associated to cognitive deficits. Focal cortical dysplasia (FCD), frequently associated to high risk of epilepsy, can lead to abnormalities in cognition. The aim of this study was to explore neuropsychological performance and to identify potential risk factors for cognitive impairment in TLE subjects with associated FCD. Our sample was composed by 46 TLE patients with FCD (37.76 ± 12.60 years; 29 females and 16 males) and 44 healthy controls (41.05 ± 9.74 years; 25 females and 19 males). All subjects performed a neuropsychological battery associated to a measurement of depression and anxiety. Results showed a poor performance of all domains of cognitive functioning and identified age of epilepsy onset as potential risk factor of cognitive impairment. These findings support the importance to focus on cognitive impairment in TLE patients with FCD to better clarify the impact of epilepsy features and FCD in therapeutic and everyday management.

Role of visual P300 in cognitive assessment of subacute stroke patients: a longitudinal study.

Aim: The aim of this study was to assess if pre- and post- event related potentials (ERPs) components after visual stimulation training admitted differences exist in subacute stroke patients and to observe the outcome markers of cognitive functions recovery by using Neurowave system.Materials and Methods: Eighteen ischemic subacute stroke patients were enrolled and underwent to neuropsychological evaluation and ERPs recording at two time points, at baseline (T0) and after 3 months from (T1). All patients were stimulated with customized images for three days a week.Findings: Intra group analysis showed a significance difference in ERPs parameters and neuropsychological tests. Correlation analysis showed a significant relation between neuropsychological and ERP values.Conclusion: Our findings confirm that P300 ERPs' component could be a predictive marker for cognitive recovery of ischemic subacute stroke patients. Intensive programs of neurosensory stimulation could facilitate recovery of cognitive and attentive functions in subacute cerebrovascular disease.

Quantitative assessment of Parkinsonian tremor by using biosensor device.

Parkinson disease (PD) is the second most common neurodegenerative disease which affects population older than 65 years. Tremor represents one of the main symptomatic triads in PD, particularly in rest state.We enrolled 41 idiopathic PD patients, to validate the assessment of tremor symptoms.To be enrolled in the study, patients had to fulfill the movement disorder society clinical diagnostic criteria for PD.We used an innovative home-made, low-cost device, able to quantify the frequency and amplitude of rest tremor and stress conditionOur results confirmed the presence of tremor during muscular effort in a significant number of patients and the influence of emotional stress.We suppose that this new device should be validated in clinical practice as a support of differential diagnosis and therapeutic management of PD patients.

Assessment of Duodopa® effects on quality of life of patients with advanced Parkinson's disease and their caregivers.

The gold standard of treatment in Parkinson's disease (PD) is levodopa/carbidopa whose long-term use induces motor and non-motor fluctuations and dyskinesias. Continuous infusion of intrajejunal levodopa/carbidopa intestinal gel (Duodopa®) reduces motor and non-motor symptoms and dyskinesias, and improves the quality of life of patients. The aim of this open observational prospective study was to evaluate the impact of Duodopa® on conditions of PD patients and caregivers, and their quality of life. We enrolled 12 patients with advanced PD and their caregivers. The PD patients were assessed at baseline, 3 and 6 months after Duodopa® treatment initiation using Unified Parkinson's Disease Rating Scale-Part III and IV (UPDRS-III and IV), Unified Dyskinesia Rating Scale (UdysRS), Beck Depression Inventory (BDI-II), Hamilton Anxiety Rating Scale (HAM-A) and Parkinson's Disease Quality of Life Questionnaire (PDQ-39). The caregivers were assessed, at the same time as the patients, using BDI-II, HAM-A, Caregiver Burden Inventory (CBI) and SF-36 Health Status Questionnaire. Six months after Duodopa® therapy, the scores of UPDRS-III and IV, UdysRS, BDI-II, HAM-A and PDQ-39 were significantly decreased (p < 0.01). After Duodopa® therapy, in caregiver group the scores of BDI-II, HAM-A and CBI were significantly decreased and the scores of SF-36 Health Status Questionnaire were significantly increased (p < 0.01). A reduction of anxiety after therapy correlated with mental status domains of SF-36 Health Status Questionnaire (r = 0.56). Overall, Duodopa® is effective even in the short time to improve the clinical conditions of PD patients and caregivers and their quality of life.

Analysis of Italian regulations on pathways of care for patients in a vegetative or minimally conscious state.

Different rehabilitation models for persons diagnosed with disorders of consciousness have been proposed in Europe during the last decade. In Italy, the Ministry of Health has defined a national healthcare model, although, to date, there is a lack of information on how this has been implemented at regional level. The INCARICO project collected information on different regional regulations, analysing ethical aspects and mapping care facilities (numbers of beds and medical units) in eleven regional territories. The researchers found a total of 106 laws; differences emerged both between regions and versus the national model, showing that patients with the same diagnosis may follow different pathways of care. An ongoing cultural shift from a treatment-oriented medical approach towards a care-oriented integrated biopsychosocial approach was found in all the welfare and healthcare systems analysed. Future studies are needed to explore the relationship between healthcare systems and the quality of services provided.

Does the radiologically isolated syndrome exist? A dual-task cost pilot study.

Simultaneous performance of motor and cognitive tasks may compete for common brain network resources in aging or patients with some neurological diseases, suggesting the occurrence of a cognitive-motor interference. While this phenomenon has been well described for multiple sclerosis (MS) patients, it never has been tested on asymptomatic subject with magnetic resonance imaging (MRI) findings suggestive of demyelinating disease (i.e., radiologically isolated syndrome: RIS). In this pilot study, 10 RIS subjects and 10 sex/age-matched healthy controls were tested by means of static posturography under eyes opened (single-task trial) and while performing two different cognitive tasks (semantic modified word list generation for first dual-task trial and phonemic semantic modified word list generation for second dual-task trial), to estimate the dual-task cost (DTC) of standing balance. In our sample, under cognitive interference (without any substantial differences between semantic and phonemic modified word list generation), the RIS group showed significance differences in CoP (center of pressure) total sway area, ellipse eccentricity, CoP sway path length, CoP median sway velocity along the AP (anteroposterior) axis and along the ML (mediolateral) axis, reflecting a higher negative DTC respect to healthy subjects (which have simply shown a statistical trend, failing to reach a significance, in some trials). The phenomenon of cognitive-motor interference might be unmasked by a dual-task posturography in RIS subjects, too. We hypothesize that this approach could be useful to early reveal the presence of a demyelinating disease and to reach a MS diagnosis in subjects otherwise classified as RIS.

Neuropsychological assessment in migraine patients: a descriptive review on cognitive implications.

Migraine is considered a disabling disorder with highly prevalence in population. Recent studies report that migraine patients have a cognitive decline associated to structural brain alterations. We search on PubMed and Web of Science databases and screening references of included studies and review articles for additional citations. From 519 studies identified, only 16 met the inclusion criteria. All studies were conducted on 1479 migraineurs (190 non-migraine headache and 11,978 controls subject) and examined the association between migraine and cognitive impairment. The results are discordant. Indeed, while cognitive deficits during the attack of migraine are now recognized, only few studies confirmed the presence of cognitive impairment in migraine patients. Given the prevalence of migraine in the population (especially among women), and the early age of the population, an association between migraine and cognitive impairment could have substantial public health implications. Future studies should determine if specific migraine characteristics, for example, attack frequency, may impact the association between migraine and cognitive decline.

Observational study of quality of life of Parkinson's patients and their caregivers.

BACKGROUND: Parkinson's disease (PD) is a degenerative disorder that leads to a decrease in cognitive performance and affects patients' quality of life (QoL). The purpose of this study was to investigate the QoL of PD patients and their caregivers in relation to each patient's cognitive impairment. METHODS: A total of 60 subjects with idiopathic PD were recruited; all had a primary caregiver. Patients' cognitive abilities were evaluated by the Mini-Mental State Examination, the Activities of Daily Living Scale, and the Instrumental Activities of Daily Living Scale. The 39-item Parkinson's Disease Questionnaire and the 36-item Short Form Health Survey were used to assess the QoL of patients and caregivers, respectively. RESULTS: The Mini-Mental State Examination was a significant predictor of most of the QoL subscales, including mobility, stigma, social support, cognition, and physical discomfort. The Activities of Daily Living Scale and the Instrumental Activities of Daily Living Scale were significant predictors of mobility, activities of daily living, and cognition. Patients' clinical conditions also significantly affected all of the 36-item Short Form Health Survey subscales; predicted physical functioning, bodily pain, vitality, and social role functioning on the Activities of Daily Living Scale; and predicted physical functioning, physical role functioning, and emotional role functioning on the Mini-Mental State Examination. CONCLUSIONS: Our results confirm a relationship between PD patients QoL and the perceived burden of their caregivers. Indeed, patients' cognitive impairment strictly correlated to lower QoL scores in both patients and caregivers and is a strong predictor of caregiver stress and burden. These results emphasize the importance of implementing early interventions to prevent or ameliorate caregivers' burnout.

Evaluation of Qualitative Outcomes after Surgical Intervention on Patients Affected by Arteriovenous Malformations.

BACKGROUND: Arteriovenous malformations are abnormal tangles of blood vessels that cause irregular connections between arteries and veins. Rupture of arteriovenous malformations represents a frequent complication associated with a neurological impairment and physical disability. METHODS: We investigated the relationship among coping dimensions and overall quality of life (QoL), and health status after surgical intervention in 20 patients affected by arteriovenous malformations. Each patient was administered a battery of self-report questionnaires (Short Form 12 Health Survey Questionnaire, Brief COPE Inventory, Beck Depression Inventory, and Hamilton Rating Scale for Anxiety). RESULTS: We found that surgical treatment of arteriovenous malformations affected subjective well-being and emotional aspects. Coping ability influenced the QoL and the presence of anxiety and depressive symptoms. We found a significant correlation between depression and humor (r = -.47, P = .03) and between QoL and self-distraction (r = -.48, P = .03) and humor (r = .44, P = .05). In particular, humor was a significant predictor of mental health and physical health. CONCLUSIONS: The presence of anxiety and depression was the cause of deterioration of QoL, even if psychological resources used to deal with the disease significantly modified the subjective perception of well-being. The evaluation of the impact of cerebrovascular disease on QoL should be a basis for planning and evaluating therapeutic and psychological rehabilitative interventions.

Neurophysiological assessment for evaluating residual cognition in vegetative and minimally conscious state patients: a pilot study.

The aim of this study was to assess residual cognitive function and perform outcome evaluation in vegetative state (VS) and minimally conscious state (MCS) patients, using Neurowave, a system able to monitor event-related potentials (ERPs) induced by neurosensory stimulation. Eleven VS and five MCS patients underwent neurological examination and clinical evaluation performed using validated clinical and behavioral scales; they also underwent neurosensory stimulation, which consisted of administration of target images (rare stimuli), relevant to the patient's personal history and having emotional significance, alternated with nontarget images ("standard" stimuli), which had no emotional significance. All simultaneous ERP responses at baseline (T0) and at three months from T0 (T1) were recorded. At T0 we found significant differences between the VS and MCS patients for the N200 (p=0.02) and P300 (p=0.04) waves. The neurophysiological analysis at T1 showed a significant difference only for P300 (p=0.02), probably due to the improvements observed in the VS subjects for the N100 (p=0.009) and N200 (p=0.02) sensory components. Neurophysiological assessment for evaluating residual cognition in vegetative and minimally conscious state patients: a pilot study Our findings seem to show the value of ERP monitoring in VS and MCS patients as a means of investigating residual cognitive function. This approach could guide early therapeutic and rehabilitation interventions, and contribute to identifying better diagnostic and prognostic markers for use in unresponsive or low-responsive patients.

Diffusion tensor imaging and neuropsychologic assessment in aphasic stroke.

With the recent advances in neuroimaging it has become possible to characterize the cerebral reorganization that occurs in response to therapy and the conditions under which this reorganization occurs. Diffusion tensor imaging (DTI) is a neuroimaging technique that allows us to visualize white matter tracts and potential changes associated with different treatments. To date, only few data on structural neuroplasticity related to the recovery of poststroke aphasia were reported. We describe a case of aphasic stroke patient, who was studied before and after the intense rehabilitative treatment by using neuropsychologic evaluation and DTI examination, to assess the integrity of the arcuate fasciculus related to motor, language, and cognitive recovery.

Neurofunctional assessment in a stroke patient with musical hallucinations.

We reported a case of an elderly female patient affected by musical hallucinations (MHs) as the unique symptom of a right temporal ischemic stroke. A functional magnetic resonance imaging examination was performed in the patient and in five age- and sex-matched normal controls (NC) to detect the complex neural substrate subserving MHs in such a context. Although an activation pattern involving the primary auditory cortex and the temporal associative areas bilaterally was found in the patient and NC, a significant increased activation mostly located in right temporal cortex (in the ischemic area), was observed in the patient. Further functional neuroimaging studies should be performed to detect the complex neural pathways underlying MHs and to find out differences between these hallucinations and real music perception.

Neurofunctional assessment in a case of calculation-induced seizures.

Previous studies suggest a localized activation of specific areas in healthy subjects during mental calculation. We report the case of patient affected by calculation-induced seizures that were refractory to medications. We showed the cortical activation by using a functional magnetic resonance imaging (fMRI) while he was performing an arithmetic task and illustrated that, in this case, the areas commonly activated included the premotor and supplementary motor areas of both hemispheres. Furthermore, the patient showed a more significant activation of posterior parietal and prefrontal cortices after arithmetic tasks if compared to normal controls. To our knowledge, this is the first fMRI study in calculation-induced seizures, even if limited to a single patient. The potential benefits of non-conventional neuroimaging technology, such as fMRI, for understanding calculation, however, are only beginning to be tapped.