Telemedicine: Issues in the Analysis of Its Use in Elderly People and in People with Disabilities, According to the Perspective of the Clinical Psychology of Disability

The recent COVID-19 pandemic has led to a sudden increase in the speed of the digitization process, which has affected several areas of life (public administration, schools, universities, and healthcare, and extending to so-called "digital citizenship") [...]

Children with autism spectrum disorders and severe visual impairments: Some general principles for intervention according to the perspective of clinical psychology of disability

In the last decades, an increasing number of researchers addressed the relationship between autism spectrum disorders (ASD) and severe visual impairment (SVI) (like blindness or very low visual acuity) and nowadays autism could be considered one of the most reported coexisting developmental disorders in children with blindness or other severe visual impairment. As ASD and SVI' signs and symptoms affect functioning and quality of life and different domains of functioning of children with this comorbidity, it is very important to support individuals and their families as soon as possible in the cycle of life and to promote specific interventions aimed to promote developmental potential of everyone with both ASD and VI, based on the unique balance between strengths, needs and abilities of everyone. Children and individuals with SVI and ASD and SVI are a very heterogeneous group, both about the areas of social interaction, communication, and behaviour, as well as about visual abilities and about all the other aspects of their neuropsychological and functional profiles that are influenced by their visual impairments itself, their ASD itself and the combination of them. In this paper, we aim to discuss some general principles useful to design and to develop specific interventions and to promote inclusion of children with ASD and SVI

Rhythmic Auditory Stimulation (RAS) and motor rehabilitation in Parkinson\u2019s disease: New frontiers in assessment and intervention protocols

Previous studies have demonstrated that physical therapy accompanied by Rhythmic Auditory Stimulation (RAS) can improve the motor skills of patients with Parkinson\u2019s disease and, in particular, their gait disturbances. In the present work we describe the neurological bases and perceptual-motor deficits generally associated with Parkinson\u2019s disease, with a specific focus on gait disturbances. Within this framework, we review the role of auditory cueing in the modulation of patients\u2019 gait, addressing this issue from the cognitive, neurological and biomechanical perspectives. In particular, we focus on the new frontiers of both assessment and intervention. With regards to the assessment, we describe the advantages of the three-dimensional quantitative multifactorial gait analysis. As concerns the intervention, we illustrate the potential impact of the administration of ecological footstep sounds as rhythmic cues

Effects of physical rehabilitation integrated with rhythmic auditory stimulation on spatio-temporal and kinematic parameters of gait in parkinsons's disease

Movement rehabilitation by means of physical therapy represents an essential tool in the management of gait disturbances induced by Parkinson’s disease (PD). In this context, the use of Rhythmic Auditory Stimulation (RAS) has been proven useful in improving several spatio-temporal parameters, but concerning its effect on gait patterns scarce information is available from a kinematic viewpoint. In this study we used three-dimensional gait analysis based on optoelectronic stereophotogrammetry to investigate the effects of 5 weeks of intensive rehabilitation, which included gait training integrated with RAS on 26 individuals affected by PD (age 70.4±11.1, Hoehn & Yahr 1-3). Gait kinematics was assessed before and at the end of the rehabilitation period and after a three-month follow-up, using concise measures (Gait Profile Score and Gait Variable Score, GPS and GVS, respectively), which are able to describe the deviation from a physiologic gait pattern. The results confirm the effectiveness of gait training assisted by RAS in increasing speed and stride length, in regularizing cadence and correctly reweighting swing/stance phase duration. Moreover, an overall improvement of gait quality was observed, as demonstrated by the significant reduction of the GPS value, which was created mainly through significant decreases in the GVS score associated with the hip flexion-extension movement. Future research should focus on investigating kinematic details to better understand the mechanisms underlying gait disturbances in people with PD and the effects of RAS, with the aim of finding new or improving current rehabilitative treatments

Effects of Physical Rehabilitation Integrated with Rhythmic Auditory Stimulation on Spatio-Temporal and Kinematic Parameters of Gait in Parkinson's Disease

Movement rehabilitation by means of physical therapy represents an essential tool in the management of gait disturbances induced by Parkinson's disease (PD). In this context, the use of rhythmic auditory stimulation (RAS) has been proven useful in improving several spatio-temporal parameters, but concerning its effect on gait patterns, scarce information is available from a kinematic viewpoint. In this study, we used three-dimensional gait analysis based on optoelectronic stereophotogrammetry to investigate the effects of 5\u2009weeks of supervised rehabilitation, which included gait training integrated with RAS on 26 individuals affected by PD (age 70.4\u2009\ub1\u200911.1, Hoehn and Yahr 1-3). Gait kinematics was assessed before and at the end of the rehabilitation period and after a 3-month follow-up, using concise measures (Gait Profile Score and Gait Variable Score, GPS and GVS, respectively), which are able to describe the deviation from a physiologic gait pattern. The results confirm the effectiveness of gait training assisted by RAS in increasing speed and stride length, in regularizing cadence and correctly reweighting swing/stance phase duration. Moreover, an overall improvement of gait quality was observed, as demonstrated by the significant reduction of the GPS value, which was created mainly through significant decreases in the GVS score associated with the hip flexion-extension movement. Future research should focus on investigating kinematic details to better understand the mechanisms underlying gait disturbances in people with PD and the effects of RAS, with the aim of finding new or improving current rehabilitative treatments

Quantitative assessment of gait parameters in people with Parkinson's disease in laboratory and clinical setting: Are the measures interchangeable?

This study aimed to investigate possible differences in spatio-temporal gait parameters of people with Parkinson’s Disease (pwPD) when they are tested either in laboratory using 3D Gait Analysis or in a clinical setting using wearable accelerometers. The main spatio-temporal gait parameters (speed, cadence, stride length, stance, swing and double support duration) of 31 pwPD were acquired: i) using a wearable accelerometer in a clinical setting while wearing shoes (ISS); ii) same as condition 1, but barefoot (ISB); iii) using an optoelectronic system (OES) undressed and barefoot. While no significant differences were found for cadence, stance, swing and double support duration, the experimental setting affected speed and stride length that decreased (by 17% and 12% respectively, P<0.005) when passing from the clinical (ISS) to the laboratory (OES) setting. These results suggest that gait assessment should be always performed in the same conditions to avoid errors, which may lead to inaccurate patient’s evaluations

Haplotype affinities resolve a major component of goat (<i>Capra hircus</i>) MtDNA D-loop diversity and reveal specific features of the Sardinian stock

Goat mtDNA haplogroup A is a poorly resolved lineage absorbing most of the overall diversity and is found in locations as distant as Eastern Asia and Southern Africa. Its phylogenetic dissection would cast light on an important portion of the spread of goat breeding. The aims of this work were 1) to provide an operational definition of meaningful mtDNA units within haplogroup A, 2) to investigate the mechanisms underlying the maintenance of diversity by considering the modes of selection operated by breeders and 3) to identify the peculiarities of Sardinian mtDNA types. We sequenced the mtDNA D-loop in a large sample of animals (1,591) which represents a non-trivial quota of the entire goat population of Sardinia. We found that Sardinia mirrors a large quota of mtDNA diversity of Western Eurasia in the number of variable sites, their mutational pattern and allele frequency. By using Bayesian analysis, a distance-based tree and a network analysis, we recognized demographically coherent groups of sequences identified by particular subsets of the variable positions. The results showed that this assignment system could be reproduced in other studies, capturing the greatest part of haplotype diversity. We identified haplotype groups overrepresented in Sardinian goats as a result of founder effects. We found that breeders maintain diversity of matrilines most likely through equalization of the reproductive potential. Moreover, the relevant amount of inter-farm mtDNA diversity found does not increase proportionally with distance. Our results illustrate the effects of breeding practices on the composition of maternal gene pool and identify mtDNA types that may be considered in projects aimed at retrieving the maternal component of the oldest breeds of Sardinia.</br

Haplotype Affinities Resolve a Major Component of Goat (Capra hircus) MtDNA D-Loop Diversity and Reveal Specific Features of the Sardinian Stock

Goat mtDNA haplogroup A is a poorly resolved lineage absorbing most of the overall diversity and is found in locations as distant as Eastern Asia and Southern Africa. Its phylogenetic dissection would cast light on an important portion of the spread of goat breeding. The aims of this work were 1) to provide an operational definition of meaningful mtDNA units within haplogroup A, 2) to investigate the mechanisms underlying the maintenance of diversity by considering the modes of selection operated by breeders and 3) to identify the peculiarities of Sardinian mtDNA types. We sequenced the mtDNA D-loop in a large sample of animals (1,591) which represents a non-trivial quota of the entire goat population of Sardinia. We found that Sardinia mirrors a large quota of mtDNA diversity of Western Eurasia in the number of variable sites, their mutational pattern and allele frequency. By using Bayesian analysis, a distance-based tree and a network analysis, we recognized demographically coherent groups of sequences identified by particular subsets of the variable positions. The results showed that this assignment system could be reproduced in other studies, capturing the greatest part of haplotype diversity

Drug discovery in advanced prostate cancer: translating biology into therapy.

Castration-resistant prostate cancer (CRPC) is associated with a poor prognosis and poses considerable therapeutic challenges. Recent genetic and technological advances have provided insights into prostate cancer biology and have enabled the identification of novel drug targets and potent molecularly targeted therapeutics for this disease. In this article, we review recent advances in prostate cancer target identification for drug discovery and discuss their promise and associated challenges. We review the evolving therapeutic landscape of CRPC and discuss issues associated with precision medicine as well as challenges encountered with immunotherapy for this disease. Finally, we envision the future management of CRPC, highlighting the use of circulating biomarkers and modern clinical trial designs

Autism and Visual impairment: A First Approach to a Complex Relationship

Since the first half of the 20th century there has been an interest in the study of the relationship between autism and autistic-like clinical features and with visual impairments. Autism Spectrum disorders are one of the more worldwide-studied neurodevelopmental disorder with an increasing prevalence in the last ten years. Visual impairment is a condition which derives from several causes (genetic, constitutional, injuries, nutritional and environmental ones). Again, it is a kind of spectrum and an overarching category, because visual impairments range from refractive errors (myopia, hyperopia, astigmatism), to amblyopia, strabismus, and to partial and total blindness. Since the first study of Keeler (1956) which described autistic-like patterns in five preschool children who were totally blind due to retinopathy of prematurity (ROP), a growing number of researchers addressed the relationship between autism and visual impairment. In this paper we focused on it, aiming to discuss on some lessons learned in this field and to discuss some open questions since the first research in this field