The novel coronavirus disease (COVID-19) was first detected in Mainland China in December 2019, and soon it spread throughout the world, with multiple physical and psychological consequences across ...the affected populations.
The aim of the current study was to analyze the impact of COVID-19 pandemic on older adults with mild cognitive impairment (MCI)/dementia and their caregivers as well.
Two hundred and four caregivers took part in the study, completing a self-reported questionnaire about the person with MCI/dementia and their own, since the lockdown period which started in February and ended in May of 2020 in Greece.
Results indicated a significant overall decline of the people with MCI/dementia. Further, the domains in which people with MCI/dementia were mostly affected were: communication, mood, movement and compliance with the new measures. Caregivers also reported a great increase in their psychological and physical burden during this period, where the available support sources were limited.
The pandemic threatens to disrupt the basic routines that promote mental and physical health of both people with MCI/dementia and t heir caregivers.
Further measures to protect and provide support to people who suffer and their families are needed.
Neurodegeneration in Alzheimer's disease (AD) is closely associated with the accumulation of pathologic tau aggregates in the form of neurofibrillary tangles. We found that a p.Asp395Gly mutation in
...(valosin-containing protein) was associated with dementia characterized neuropathologically by neuronal vacuoles and neurofibrillary tangles. Moreover, VCP appeared to exhibit tau disaggregase activity in vitro, which was impaired by the p.Asp395Gly mutation. Additionally, intracerebral microinjection of pathologic tau led to increased tau aggregates in mice in which p.Asp395Gly
mice was knocked in, as compared with injected wild-type mice. These findings suggest that p.Asp395Gly
is an autosomal-dominant genetic mutation associated with neurofibrillary degeneration in part owing to reduced tau disaggregation, raising the possibility that VCP may represent a therapeutic target for the treatment of AD.
SPECT and PET imaging in Alzheimer’s disease Valotassiou, Varvara; Malamitsi, Julia; Papatriantafyllou, John ...
Annals of nuclear medicine,
11/2018, Letnik:
32, Številka:
9
Journal Article
Recenzirano
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia. Beta-amyloid (Aβ) deposition and neurofibrillary tangles (NFTs) of abnormal ...hyperphosphorylated tau protein are the pathological hallmarks of the disease, accompanied by other pathological processes such as microglia activation. Functional and molecular nuclear medicine imaging with single-photon emission computed tomography (SPECT) and positron emission tomography (PET) techniques provides valuable information about the underlying pathological processes, many years before the appearance of clinical symptoms. Nuclear neuroimaging in AD has made great progress in the past two decades and has extended beyond the traditional role of brain perfusion and glucose metabolism evaluation. Intense efforts in radiopharmaceuticals research have led to the development of various probes able to detect Aβ deposits, tau protein accumulation, microglia activation and neuroinflammation. As a result, SPECT and PET have proposed to serve as biomarkers in recently revised diagnostic clinical criteria for the early diagnosis of AD and the prediction of progression to AD in mild cognitive impairment (MCI) subjects.
Patients with movement disorders such as Parkinson’s disease (PD) living in remote and underserved areas often have limited access to specialized healthcare, while the feasibility and reliability of ...the video-based examination remains unclear. The aim of this narrative review is to examine which parts of remote neurological assessment are feasible and reliable in movement disorders. Clinical studies have demonstrated that most parts of the video-based neurological examination are feasible, even in the absence of a third party, including stance and gait—if an assistive device is not required—bradykinesia, tremor, dystonia, some ocular mobility parts, coordination, and gross muscle power and sensation assessment. Technical issues (video quality, internet connection, camera placement) might affect bradykinesia and tremor evaluation, especially in mild cases, possibly due to their rhythmic nature. Rigidity, postural instability and deep tendon reflexes cannot be remotely performed unless a trained healthcare professional is present. A modified version of incomplete Unified Parkinson’s Disease Rating Scale (UPDRS)-III and a related equation lacking rigidity and pull testing items can reliably predict total UPDRS-III. UPDRS-II, -IV, Timed “Up and Go”, and non-motor and quality of life scales can be administered remotely, while the remote Movement Disorder Society (MDS)-UPDRS-III requires further investigation. In conclusion, most parts of neurological examination can be performed virtually in PD, except for rigidity and postural instability, while technical issues might affect the assessment of mild bradykinesia and tremor. The combined use of wearable devices may at least partially compensate for these challenges in the future.
Various neurodegenerative and psychiatric diseases are related with changes in spoken language 1, although they have seldom been investigated. We evaluate the effectiveness of our language-agnostic ...Machine Learning (ML) system to detect subtle changes in spoken language that manifest early signs of cognitive decline, thus assisting with its diagnosis. We evaluate our methodology using recordings of speech samples from multiple languages obtained from patient cohorts in early stages of cognitive decline and matched healthy controls.
Our methodology involves capturing patient audio recordings while they are performing one or more predefined cognitive assessment tasks, involving, e.g., the description of a picture or recounting of an everyday activity. Afterwards, multi-language audio recordings and generated transcripts are analyzed with audio and NLP feature extraction methods 3, ranging from semantic, morpho-syntactic, phonological representations of the input, as well as, more sophisticated linguistic measures. The feature pool is filtered by a Pearson's rho threshold of 0.85. We build a Random Forest classifier out of 100 Decision trees, using the Gini impurity criterion, 5-fold cross-validation for training, elimination and composition-based feature selection, as well as post-selection retraining / fine-tuning. The model's diagnostic performance is evaluated on a test set unseen during training.
Our results are validated against the diagnosis that is provided by medical experts. Our performance in terms of accuracy (∼82%), f1 (84%) and ROC-AUC score (∼82%) are clear indicators of the effectiveness of speech analysis towards detecting cognitive decline. Moreover, our tree-based classifier produces probability scores that closely follow the proportion of pathological cases in the input data, with a correlation of 94%.
In the current evaluation we verified our conjectures regarding the strong capacity of speech to predict cognitive decline. Audio analysis and machine learning are proven to be invaluable tools in the prediction of early signs of cognitive decline, which are coupled with a wide spectrum of neurodegenerative and psychiatric diseases. 1 Boschi, Veronica, et al., Frontiers in psychology 8 (2017): 269. 2 Vassiliki Rentoumi et al., Alzheimer's & Dementia, Wiley, volume 16, 2020. 3 Alberdi, Ane et al., Artificial intelligence in medicine 71 (2016): 1-29.
Self-monitoring is a crucial component of human empathy and necessary for the formation and repair of social relations. Several studies have brought to light possible neuronal substrates associated ...with self-monitoring, but the information that they have provided is inconclusive. The authors, therefore, studied a large group of patients with dementia to assess what brain structures are necessary for the self-monitoring function.
Seventy-seven patients with dementia of various types were screened using voxel-based morphometry to assess possible volume reduction in the brain structures of patients with self-monitoring problems, and the decrease of socioemotional expressiveness and modification of self-presentation was estimated using the Revised Self-Monitoring Scale. Regression analysis was employed to investigate the correlation between gray matter loss and deficient self-monitoring.
The socioemotional expressiveness scores were associated with decreased gray matter volume in the right olfactory cortex, inferior frontal gyrus, superior temporal pole, parahippocampal gyrus, insula, and medial temporal gyrus bilaterally. Self-presentation scores were associated with bilateral gray matter volume reduction in the olfactory cortex, insula, rectus gyrus and inferior frontal gyrus, right superior temporal pole, and parahippocampal gyrus, as well as the left medial temporal gyrus and anterior superior frontal gyrus.
These results suggest that patients with dementia present decreased ability of self-monitoring, probably due to impaired insula and orbitofrontal cortex and their disconnection from structures of the salience network.
Physical as well as cognitive training interventions improve specific cognitive functions but effects barely generalize on global cognition. Combined physical and cognitive training may overcome this ...shortcoming as physical training may facilitate the neuroplastic potential which, in turn, may be guided by cognitive training. This study aimed at investigating the benefits of combined training on global cognition while assessing the effect of training dosage and exploring the role of several potential effect modifiers. In this multi-center study, 322 older adults with or without neurocognitive disorders (NCDs) were allocated to a computerized, game-based, combined physical and cognitive training group (n = 237) or a passive control group (n = 85). Training group participants were allocated to different training dosages ranging from 24 to 110 potential sessions. In a pre-post-test design, global cognition was assessed by averaging standardized performance in working memory, episodic memory and executive function tests. The intervention group increased in global cognition compared to the control group, p = 0.002, Cohen's d = 0.31. Exploratory analysis revealed a trend for less benefits in participants with more severe NCD, p = 0.08 (cognitively healthy: d = 0.54; mild cognitive impairment: d = 0.19; dementia: d = 0.04). In participants without dementia, we found a dose-response effect of the potential number and of the completed number of training sessions on global cognition, p = 0.008 and p = 0.04, respectively. The results indicate that combined physical and cognitive training improves global cognition in a dose-responsive manner but these benefits may be less pronounced in older adults with more severe NCD. The long-lasting impact of combined training on the incidence and trajectory of NCDs in relation to its severity should be assessed in future long-term trials.
: Dementia affects more than 55 million patients worldwide, with a significant societal, economic, and psychological impact. However, many patients with Alzheimer's disease (AD) and other related ...dementias have limited access to effective and individualized treatment. Care provision for dementia is often unequal, fragmented, and inefficient. The COVID-19 pandemic accelerated telemedicine use, which holds promising potential for addressing this important gap. In this narrative review, we aim to analyze and discuss how telemedicine can improve the quality of healthcare for AD and related dementias in a structured manner, based on the seven dimensions of healthcare quality defined by the World Health Organization (WHO), 2018: effectiveness, safety, people-centeredness, timeliness, equitability, integrated care, and efficiency.
: MEDLINE and Scopus databases were searched for peer-reviewed articles investigating the role of telemedicine in the quality of care for patients with dementia. A narrative synthesis was based on the seven WHO dimensions.
: Most studies indicate that telemedicine is a valuable tool for AD and related dementias: it can improve effectiveness (better access to specialized care, accurate diagnosis, evidence-based treatment, avoidance of preventable hospitalizations), timeliness (reduction of waiting times and unnecessary transportation), patient-centeredness (personalized care for needs and values), safety (appropriate treatment, reduction of infection risk),integrated care (interdisciplinary approach through several dementia-related services), efficiency (mainly cost-effectiveness) and equitability (overcoming geographical barriers, cultural diversities). However, digital illiteracy, legal and organizational issues, as well as limited awareness, are significant potential barriers.
: Telemedicine may significantly improve all aspects of the quality of care for patients with dementia. However, future longitudinal studies with control groups including participants of a wide educational level spectrum will aid in our deeper understanding of the real impact of telemedicine in quality care for this population.
Frontotemporal dementia (FTD) is a heterogeneous group of neurodegenerative syndromes associated with several causative and susceptibility genes. Herein, we aimed to determine the incidence of the ...most common causative dementia genes in a cohort of 118 unrelated Greek FTD spectrum patients. We also screened for novel possible disease-associated variants in additional 21 genes associated with FTD or amyotrophic lateral sclerosis. Pathogenic or likely pathogenic variants were identified in 16 cases (13.6%). These included repeat expansions in C9orf72 and loss-of-function GRN variants, and likely pathogenic variants in TARDBP, MAPT, and PSEN1. We also identified 14 variants of unknown significance in other rarer FTD or amyotrophic lateral sclerosis genes that require further segregation and functional analysis. Our genetic screen revealed a high genetic burden in familial Greek FTD cases (30.4%), whereas only two of the sporadic cases (3.5%) carried a likely pathogenic variant. A substantial number of familial cases still remain without an obvious causal variant, suggesting the existence of other FTD genetic causes besides those currently screened in clinical routine.
•First in-depth genetic screen of frontotemporal dementia in Greece (118 cases).•High genetic burden for common dementia genes in familial cases.•Two seemingly sporadic cases carried a likely pathogenic variant.•Eight more carriers of unknown significance variants in other rare FTD-ALS genes.
Aim
The aim of this study was to assess the ability of Neuropsychiatric Inventory (NPI) scale profiles to differentiate between distinct frontotemporal dementia (FTD) subtypes.
Methods
The NPI was ...used to assess 311 older patients who had been clinically diagnosed with FTD. FTD subtypes included behavioural variant FTD (bvFTD, n = 121), primary progressive aphasia (semantic variant (n = 69), non‐fluent agrammatic variant (n = 31), and logopenic variant (n = 0)), FTD‐motor neuron disease (n = 4), progressive supranuclear palsy (n = 43), and corticobasal syndrome (n = 43). Total NPI score and scores for each NPI item were correlated across the distinct FTD subtypes.
Results
Patients with bvFTD showed significantly greater impairment on their total NPI score than patients with corticobasal syndrome (P < 0.001), non‐fluent agrammatic variant primary progressive aphasia (P < 0.001), progressive supranuclear palsy (P = 0.002), and semantic variant primary progressive aphasia (P = 0.010). Aggressiveness, euphoria, apathy, disinhibition, irritability, aberrant motor behaviours, and appetite disturbance were significantly higher in bvFTD than in the other subgroups. The lowest NPI scores were generally shown among those with CBS. However, NPI total and specific item values overlapped among the subtypes.
Conclusions
Patients with bvFTD showed significantly greater neuropsychiatric dysfunction than those with the other FTD subtypes, as measured by the NPI scale. In contrast, patients with corticobasal syndrome had a comparatively healthier profile. Therefore, differential diagnosis among the FTD subtypes may be guided by the NPI, although the subtype is unlikely to be confirmed on the basis of NPI alone.