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Several features of amyotrophic lateral sclerosis (ALS) impact on sexuality and intimate relationship; however, the issue has received poor attention so far. We performed a systematic literature review in order to provide an up-to-date account of sexuality in ALS. References were identified by searches of PubMed, Web of Science, Scopus and PsycINFO (1970–2017, English literature). The following were the key terms: ‘sexual’ OR ‘sexuality’ OR ‘intimacy’ OR ‘marital’ AND ‘ALS’ OR ‘Amyotrophic Lateral Sclerosis’ OR ‘Motor Neuron Disease’ OR ‘MND’. Titles and abstracts were screened for relevance and a full-text analysis was performed on the selected articles. Studies were included if they referred to sexual well-being/activities/functions or intimate relationship between patients and their partners and management of such topic by clinicians. Eligibility assessment was performed independently by two reviewers. A thematic and level of evidence classification of studies was performed. Studies’ design, objectives, measurements and outcomes were summarised. Thirty articles were included and four topics were identified: intimacy in the dyads; sexual activities in patients and with their partners; sexual function disturbances; and sexuality and cognitive-behavioural alterations. The quality of the studies varies, with globally poor level of evidence. Some sexuality issues have been only sparsely addressed, such as gender-related differences, same-sex relationships and sexual activities other than intercourse. Sexuality in ALS is still not adequately considered by clinicians and researchers. We present preliminary recommendations for improving sexuality and intimacy at any ALS multidisciplinary clinics.

The presence of executive deficits in patients with Amyotrophic Lateral Sclerosis is well established, even if standardized measures are difficult to obtain due to progressive physical disability of the patients. We present clinical data concerning a newly developed measure of cognitive flexibility, administered by means of Eye-Tracking (ET) technology in order to bypass verbal-motor limitations. 21 ALS patients and 21 age-and education-matched healthy subjects participated in an ET-based cognitive assessment, including a newly developed test of cognitive flexibility (Arrows and Colors Cognitive Test-ACCT) and other oculomotor-driven measures of cognitive functions. A standard screening of frontal and working memory abilities and global cognitive efficiency was administered to all subjects, in addition to a psychological self-rated assessment. For ALS patients, a clinical examination was also performed. ACCT successfully discriminated between patients and healthy controls, mainly concerning execution times obtained at different subtests. A qualitative analysis performed on error distributions in patients highlighted a lower prevalence of perseverative errors, with respect to other type of errors. Correlations between ACCT and other ET-based frontal-executive measures were significant and involved different frontal sub-domains. Limited correlations were observed between ACCT and standard 'paper and pencil' cognitive tests. The newly developed ET-based measure of cognitive flexibility could be a useful tool to detect slight frontal impairments in non-demented ALS patients by bypassing verbal-motor limitations through the oculomotor-driven administration. The findings reported in the present study represent the first contribution towards the development of a full verbal-motor free executive test for ALS patients.

Background. This study aims at reviewing, within the framework of motor neuron disease-frontotemporal degeneration (MND-FTD)-spectrum disorders, evidence on the co-occurrence between primary progressive aphasia (PPA) and MND in order to profile such a complex at pathological, genetic and clinical levels. Methods. This review was pre-registered (osf.io/ds8m4) and performed in accordance with the 2020 PRISMA guidelines. Case reports/series and group studies were included if addressing (1) progressive non-fluent aphasia (PNFA) or semantic dementia (SD) with MND or (2) MND patients with co-morbid PNFA/SD. Results. Out of 546 initial records, 56 studies were included. As to case reports/series (N=35), which included 61 PPA-MND patients, the following findings yielded: 1) PNFA is more frequent than SD in PPA-MND; 2) in PPA-MND, the most prevalent motor phenotypes are amyotrophic lateral sclerosis and predominant-upper MND, with bulbar involvement being ubiquitous; 3) extrapyramidal features are moderately frequent in PPA-MND; 4) PPA-MND patients usually display frontotemporal, left-greater-than-right involvement; 5) TDP-43-B is the typical pathological substrate of PPA-MND; 6) TBK1 mutations represent the most frequent genetic risk factors for PPA-MND. As to group studies, including 121 patients, proportional meta-analytic procedures revealed that: 1) the lifetime prevalence of MND in PPA is 6%; 2) PPA occurs in 19% of patients with co-morbid MND and FTD; 3) MND is more frequent in PNFA (10%) than in SD patients (3%). Discussion. Insights herewith delivered into the clinical, neuropathological and genetic features of PPA-MND patients prompt further investigations aimed at improving clinical practice within the MND-FTD spectrum.

Eye movement abnormalities in association with cognitive and emotional deficits have been described in neurological, neurodevelopmental, and psychiatric disorders. Eye-Tracking (ET) techniques could therefore enhance cognitive interventions by contingently providing feedback to patients. Since no consensus has been reached thus far on this approach, this study aimed at systematically reviewing the current evidence. This review was performed and reported according to PRISMA guidelines. Records were searched for in PubMed, Web of Science, and Scopus (1990–2021) through the following string: (‘Eye Tracking’ OR ‘Eye-Tracking’ OR ‘Oculomotor’) AND (‘Neuropsychol*’ OR ‘Cognitive’) AND (‘Rehabilitation’ OR ‘Training’ OR ‘Stimulation’). Study outcomes were thematically classified and qualitatively synthesized. A structured quality assessment was performed. A total of 24 articles were included, addressing neurodevelopmental (preterm infants and children with autism spectrum disorder, Rett syndrome, or ADHD; N = 14), psychiatric (mood and anxiety disorders or alcohol dependence; N = 7), and neurological conditions (stroke; N = 3). Overall, ET gaze-contingent training proved to be effective in improving cognitive and emotional alterations. However, population heterogeneity limits the generalizability of results. ET gaze-contingent protocols allow researchers to directly and dynamically train attentional functions; together with the recruitment of implicit, “bottom-up” strategies, these protocols are promising and possibly integrable with traditional cognitive approaches.

This study describes the long-term effectiveness on spatial neglect recovery of a 2-week treatment based on prism adaptation (PA). Seven right-brain-damaged patients affected by chronic neglect were evaluated before, after two weeks of the PA treatment and at a follow-up (variable between 8 and 30 months after the end of PA). Neglect evaluation was performed by means of BIT (conventional and behavioral), Fluff Test, and Comb and Razor Test. The results highlight an improvement, after the PA training, in both tasks performed using the hand trained in PA treatment and in behavioral tasks not requiring a manual motor response. Such effects extend, even if not significantly, to all BIT subtests. These results support previous findings, showing that PA improves neglect also on imagery tasks with no manual component, and provide further evidence for long-lasting efficacy of PA training. Dissociations have been found with regard to PA efficacy on peripersonal, personal, and representational neglect, visuospatial agraphia and neglect dyslexia. In particular, we found no significant differences between the pre-training and post-training PA session in personal neglect measures, and a poor recovery of neglect dyslexia after PA treatment. The recruitment of a larger sample could help to confirm the effectiveness of the prismatic lenses with regard to the different clinical manifestations of spatial neglect.

Even though increasing literature describes changes in emotional processing in Amyotrophic Lateral Sclerosis (ALS), efforts to summarize relevant findings are lacking in the field. A systematic literature review was performed to provide a critical and up-to-date account of emotional abilities in ALS. References were identified by searches of PubMed, Web of Science and Scopus (1980–2021, English literature), with the following key terms: (“Amyotrophic Lateral Sclerosis” or “Primary Lateral Sclerosis” or “Motor Neuron”) and “Emotion*” and (“Processing” or “Attribution” or “Elaboration” or “Perception” or “Recognition”). Studies concerning only caregivers, pseudobulbar affect, and social cognition were excluded. Forty-one articles were included, all concerning ALS, and seven topics were identified: Emotion recognition, Emotional responsiveness, Emotional reactivity, Faces approachability rating, Valence rating, Memory for emotional materials and Alexithymia. The majority of these aspects have only been sparsely addressed. The evidence confirms altered emotional processing in ALS. The most consistent findings regard the recognition of facial expressions for negative emotions, but also alterations in the subjective responsiveness to emotional stimuli (arousal, valence and approachability), in psychophysiological and cerebral reactivity and in emotional memory, together with alexithymia traits, were reported. According to this evidence, emotional abilities should be included in the clinical assessment and therapeutic interventions.

Background To go from one place to another, we routinely generate internal representations of surrounding spaces, which can include egocentric (body-centred) and allocentric (world-centred) coordinates, combined into route and survey representations. Recent studies have shown how both egocentric and allocentric representations exist in parallel and are joined to support behaviour according to the task. Our study investigated the transfer from survey (map-like) to route representations in healthy and brain-damaged subjects. The aim was two-fold: first, to understand how this ability could change with age in a sample of healthy participants, aged from 40 to 71 years old; second, to investigate how it is affected after a brain lesion in a 8 patients' sample, with reference to specific neuropsychological frames. Methods Participants were first required to perform the paper and pencil version of eight mazes, then to translate the map-like paths into egocentric routes, in order to find the right way into equivalent Virtual Reality (VR) mazes. Patients also underwent a comprehensive neuropsychological evaluation, including a specific investigation of some topographical orientation components. Results As regards the healthy sample, we found age-related deterioration in VR task performance. While education level and gender were not found to be related to performance, global cognitive level (Mini Mental State Examination), previous experience with computer and fluidity of navigation into the VR appeared to influence VR task results. Considering the clinical sample, there was a difficulty in performing the VR Maze task; executive functions and visuo-spatial abilities deficits appeared to be more relevant for predicting patients' results. Conclusions Our study suggests the importance of developing tools aimed at investigating the survey to route transfer ability in both healthy elderly and clinical samples, since this skill seems high cognitive demanding and sensitive to cognitive decline. Human-computer interaction issues should be considered in employing new technologies, such as VR environments, with elderly subjects and neurological patients.

The use of augmentative and alternative communication (AAC) tools in patients with amyotrophic lateral sclerosis (ALS), as effective means to compensate for the progressive loss of verbal and gestural communication, has been deeply investigated in the recent literature. The development of advanced AAC systems, such as eye‐tracking (ET) and brain‐computer interface (BCI) devices, allowed to bypass the important motor difficulties present in ALS patients. In particular, BCIs could be used in moderate to severe stages of the disease, since they do not require preserved ocular‐motor ability, which is necessary for ET applications. Furthermore, some studies have proved the reliability of BCIs, regardless of the severity of the disease and the level of physical decline. However, the use of BCI in ALS patients still shows some limitations, related to both technical and neuropsychological issues. In particular, a range of cognitive deficits in most ALS patients have been observed. At the moment, no effective verbal‐motor free measures are available for the evaluation of ALS patients’ cognitive integrity; BCIs could offer a new possibility to administer cognitive tasks without the need of verbal or motor responses, as highlighted by preliminary studies in this field. In this review, we outline the essential features of BCIs systems, considering advantages and challenges of these tools with regard to ALS patients and the main applications developed in this field. We then outline the main findings with regard to cognitive deficits observed in ALS and some preliminary attempts to evaluate them by means of BCIs. The definition of specific cognitive profiles could help to draw flexible approaches tailored on patients’ needs. It could improve BCIs efficacy and reduce patients’ efforts. Finally, we handle the open question, represented by the use of BCIs with totally locked in patients, who seem unable to reliably learn to use such tool. The use of Augmentative and Alternative Communication (AAC) tools in patients with amyotrophic lateral sclerosis (ALS), as effective means to compensate for the progressive loss of verbal and gestural communication, has been deeply investigated in the recent literature. The development of advanced AAC systems, such as brain‐computer interface (BCI) devices, allowed to bypass the important motor difficulties present in ALS patients. More, BCIs could offer a new possibility to administer cognitive tasks without the need of verbal or motor responses, as highlighted by preliminary studies in this field. In this review, we outline the essential features of BCIs systems, considering advantages and challenges of these tools with regard to ALS patients and the main applications developed in this field.

Introduction Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor. Methods We studied a cohort of 960 ALS patients (101 familial and 859 sporadic cases). Motor phenotype was determined using the MRC scale, the lower motor neuron score (LMNS) and the Penn upper motor neuron score (PUMNS). Neuropsychological profile was studied using the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), the Frontal Behavioral Inventory (FBI), the Beck Depression Inventory-II (BDI-II) and the State-Trait Anxiety Inventory (STAI). A two-step PCR protocol and Southern blotting were performed to determine the presence and the size of C9orf72 HRE, respectively. Results C9orf72 HRE was detected in 55/960 ALS patients. C9Pos patients showed a younger onset, higher odds of bulbar onset, increased burden of UMN signs, reduced survival and higher frequency of concurrent dementia. We found an inverse correlation between the HRE length and the performance at ECAS ALS-specific tasks ( P  = 0.031). Patients also showed higher burden of behavioural disinhibition ( P  = 1.6 × 10 –4 ), lower degrees of depression ( P  = 0.015) and anxiety ( P  = 0.008) compared to C9Neg cases. Conclusions Our study provides an extensive characterization of motor, cognitive and behavioural features of C9orf72 -related ALS, indicating that the C9orf72 HRE size may represent a modifier of the cognitive phenotype.

Alongside the best-known applications of brain-computer interface (BCI) technology for restoring communication abilities and controlling external devices, we present the state of the art of BCI use for cognitive assessment and training purposes. We first describe some preliminary attempts to develop verbal-motor free BCI-based tests for evaluating specific or multiple cognitive domains in patients with Amyotrophic Lateral Sclerosis, disorders of consciousness, and other neurological diseases. Then we present the more heterogeneous and advanced field of BCI-based cognitive training, which has its roots in the context of neurofeedback therapy and addresses patients with neurological developmental disorders (autism spectrum disorder and attention-deficit/hyperactivity disorder), stroke patients, and elderly subjects. We discuss some advantages of BCI for both assessment and training purposes, the former concerning the possibility of longitudinally and reliably evaluating cognitive functions in patients with severe motor disabilities, the latter regarding the possibility of enhancing patients’ motivation and engagement for improving neural plasticity. Finally, we discuss some present and future challenges in the BCI use for the described purposes.