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Here we tested the hypothesis of a relationship between the cortical default mode network (DMN) structural integrity and the resting-state electroencephalographic (rsEEG) rhythms in patients with Alzheimer's disease with dementia (ADD). Clinical and instrumental datasets in 45 ADD patients and 40 normal elderly (Nold) persons originated from the PDWAVES Consortium (www.pdwaves.eu). Individual rsEEG delta, theta, alpha, and fixed beta and gamma bands were considered. Freeware platforms served to derive (1) the (gray matter) volume of the DMN, dorsal attention (DAN), and sensorimotor (SMN) cortical networks and (2) the rsEEG cortical eLORETA source activities. We found a significant positive association between the DMN gray matter volume, the rsEEG alpha source activity estimated in the posterior DMN nodes (parietal and posterior cingulate cortex), and the global cognitive status in the Nold and ADD participants. Compared with the Nold, the ADD group showed lower DMN gray matter, lower rsEEG alpha source activity in those nodes, and lower global cognitive status. This effect was not observed in the DAN and SMN. These results suggest that the DMN structural integrity and the rsEEG alpha source activities in the DMN posterior hubs may be related and predict the global cognitive status in ADD and Nold persons.
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Virtual reality has gained attention as an effective tool for cognitive, motor, and daily activity rehabilitation in patients with major neurocognitive disorder (M-NCD). The first objective of this study was to check for differences between M-NCD caused by degenerative and non-degenerative conditions (DC and NDC, respectively) in terms of relearning four functional living skills (FLSs), by means of a non-immersive virtual reality training (VRT). The second purpose was to verify whether spontaneous transfer from the virtual environment to the real environment occurred. Four FLS apps were developed in our institute (Information, Suitcase, Medicine, and Supermarket). A nonrandomized interventional study was carried out, comparing experimental and control groups (EG and CG, respectively). The study included three phases: in vivo test at T1; VRT at T2 only for EG; in vivo test at T3. During the in vivo test, the four FLSs were assessed in their natural environments. Both EG-DC and EG-NDC significantly improved in all of the VRT variable scores (the EG-NDC group seemed to show better outcomes than the EG-DC group). Moderate-to-high satisfaction with the VRT was reported. EG-DC and EG-NDC also enhanced their performances in the in vivo test. No statistically significant differences between them were found. CG-DC and CG-NDC improved only in the execution time of Information in the in vivo test. These findings confirm the ecological validity of VRT for FLSs.
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Demencia , Realidad Virtual , Humanos , Pacientes , Actividades Cotidianas , BioensayoRESUMEN
IMPORTANCE: Impaired sensory processing is associated with eating problems. There seem to be no previous studies that compare those who have autism spectrum disorder (ASD) with eating problems (ASD-W) and those with ASD without eating problems (ASD-WO) with typically developing (TD) groups. Comparisons are expected to provide further knowledge to guide the intervention programs. OBJECTIVE: To investigate differences among ASD-W, ASD-WO, and TD groups in eating and sensory features; to detect associations between sensory and eating behaviors and any most involved sensory dimensions; and to search for age-related differences in sensory and eating features in ASD. DESIGN: Nonrandomized comparison study. SETTING: Questionnaires administered as parent interviews. PARTICIPANTS: A total of 165 children were recruited: 117 with ASD and 48 TD children. OUTCOMES AND MEASURES: Standardized questionnaires: the Brief Autism Mealtime Behaviors Inventory for eating problems; the Short Sensory Profile and the Sensory Experience Questionnaire for sensory problems. RESULTS: The ASD-W group showed generalized, impaired eating behaviors and turned out to be the most impaired with regard to sensory responsiveness. No differences in feeding behaviors were found between the ASD-WO and TD groups. All children with ASD showed sensory hyper- or hyporesponsiveness. Four main sensory dimensions were found to be associated with eating behaviors in ASD. No age differences were found in the eating and sensory behaviors of children with ASD. CONCLUSIONS AND RELEVANCE: Differing eating and sensory profiles were found between the ASD and TD groups, especially in children with ASD-W. Early eating interventions using sensory stimulations are strongly recommended. What This Article Adds: This study reports novel information derived from the comparisons of children with ASD with eating problems and those with ASD without eating problems with typically developing groups of children.
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Trastorno del Espectro Autista , Problema de Conducta , Humanos , Niño , Conducta Alimentaria , Encuestas y Cuestionarios , SensaciónRESUMEN
We report on our remote speech therapy experience in post-stroke aphasia. The aim was to test the feasibility and utility of telerehabilitation to support future randomized controlled trials. Post-stroke aphasia is a common and disabling speech disorder, which significantly affects patients' and caregivers' health and quality of life. Due to COVID-19 pandemic, most of the conventional speech therapy approaches had to stop or "switch" into telerehabilitation procedures to ensure the safety of patients and operators but, concomitantly, the best rehabilitation level possible. Here, we planned a 5-month telespeech therapy programme, twice per week, of a patient with non-fluent aphasia following an intracerebral haemorrhage. Overall, treatment adherence based on the operator's assessments was high, and incomplete adherence for technical problems occurred very rarely. In line with the patient's feedback, acceptability was also positive, since he was constantly motivated during the sessions and the exercises performed autonomously, as confirmed by the speech therapist and caregiver, respectively. Moreover, despite the sequelae from the cerebrovascular event, evident in some writing tests due to the motor deficits in his right arm and the disadvantages typical of all telepractices, more relevant results were achieved during the telerehabilitation period compared to those of the "face-to-face" therapy before the COVID-19 outbreak. The telespeech therapy performed can be considered successful and the patient was able to return to work. Concluding, we support it as a feasible approach offering patients and their families the opportunity to continue the speech and language rehabilitation pathway, even at the time of pandemic.
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Afasia/rehabilitación , Rehabilitación de Accidente Cerebrovascular/métodos , Accidente Cerebrovascular/complicaciones , Telerrehabilitación , Afasia/etiología , COVID-19 , Humanos , Terapia del Lenguaje/métodos , Masculino , Persona de Mediana Edad , Pandemias , Logopedia/métodos , Resultado del TratamientoRESUMEN
The loss of functional living skills (FLS) is an essential feature of major neurocognitive disorders (M-NCD); virtual reality training (VRT) offers many possibilities for improving FLS in people with M-NCD. The aim of our study was to verify the effectiveness of a non-immersive VRT on FLS for patients with M-NCD. VRT was carried out for 10 to 20 sessions, by means of four 3D apps developed in our institute and installed on a large touch screen. The experimental group (EG) and the control group (CG) included 24 and 18 patients with M-NCD, respectively. They were administered the in vivo test (in specific hospital places reproducing the natural environments) at T1 (pre-training) and T3 (post-training); at T2, only EG was administered VRT. Statistically significant differences between EG and CG in all the in vivo tests were found in the number of correct responses; during VRT, the number of correct responses increased, while the execution times and the number of clues decreased. The improvement in the in vivo tests appeared to be related to the specific VRT applied. The satisfaction of participants with the VRT was moderate to high.
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Realidad Virtual , Humanos , Trastornos Neurocognitivos , Satisfacción PersonalRESUMEN
IMPORTANCE: When in-person rehabilitation is not feasible, interventions delivered in remote telephone-based sessions may be an option. OBJECTIVE: To determine whether telephone-based reality orientation therapy (T-ROT) can improve cognition, mood, and neuropsychiatric symptoms among patients with major neurocognitive disorders (NCDs) who are forced to isolate and also whether T-ROT can relieve the burden of distress among their caregivers. DESIGN: Nonrandomized interventional comparison study. SETTING: Individual telephone calls between practitioners and patients and their caregivers. PARTICIPANTS: Twenty-seven patients (14 in the experimental group, 13 in the control group) with a major NCD and their primary caregivers. INTERVENTION: Ten T-ROT sessions and a pretest-posttest neuropsychological evaluation over 4 wk. OUTCOMES AND MEASURES: Outcomes measured included cognitive and behavioral symptoms of patients with major NCDs and correlations between changes in patient clinical condition and caregiver stress. Primary outcome measures were two measures of depressive symptoms, the Neuropsychiatric Inventory Questionnaire and the Telephone Mini-Mental State Examination, administered at baseline and program discharge. RESULTS: T-ROT significantly outperformed nontreatment on all measures of depression, behavior, cognition, and caregiver burden. CONCLUSIONS AND RELEVANCE: T-ROT combined with emotional support appears to be an effective intervention for monitoring and managing the behavioral symptoms of patients with major NCDs who are forced to isolate. WHAT THIS ARTICLE ADDS: Occupational therapy practitioners can use T-ROT or similar procedures not only during a pandemic but also when it is not possible to treat patients in person at a hospital or at home. Telephone-based treatment may also represent a good practice to be integrated into traditional rehabilitation programs.
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COVID-19 , Demencia , Cuidadores , Brotes de Enfermedades , Humanos , Proyectos Piloto , SARS-CoV-2 , TeléfonoRESUMEN
Purpose: Applied Behavior Analysis (ABA) tact-training was provided to an adult with post-stroke anomic aphasia, with the main purposes to improve naming of pictures, with a possible generalization to another different setting, through telehealth sessions. Method: The Multiple probe experimental design across behaviors was used. Two sets of stimuli were used (SET 1 and SET 2), including 60 laminated photos, belonging to three different categories for each set. Procedure included the baseline, the intervention phases (face-to-face and telehealth sessions), and the follow-up (1 month after the end of a tact training). Results: For both, SET 1 and SET 2, the mastery criterion (80% correct stimulus tacts, for three consecutive times, simultaneously for all categories) was achieved. No increased percentage of correct picture tacts was found for untrained items. At follow-up, the patient provided 70 to 100% correct responses. For both SET 1 and SET 2, telehealth did not modify the correct response trends. Conclusion: The results of our study seem to suggest that specific tact-training procedures might be successfully carried out in adult and elderly people with post-stroke aphasia. It also appears necessary to arrange protocols providing telehealth sessions, with benefits for both families and the health system.
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Here, we hypothesized that the reactivity of posterior resting-state electroencephalographic (rsEEG) alpha rhythms during the transition from eyes-closed to -open condition might be lower in patients with Parkinson's disease dementia (PDD) than in patients with Alzheimer's disease dementia (ADD). A Eurasian database provided clinical-demographic-rsEEG datasets in 73 PDD patients, 35 ADD patients, and 25 matched cognitively unimpaired (Healthy) persons. The eLORETA freeware was used to estimate cortical rsEEG sources. Results showed substantial (greater than -10%) reduction (reactivity) in the posterior alpha source activities from the eyes-closed to the eyes-open condition in 88% of the Healthy seniors, 57% of the ADD patients, and only 35% of the PDD patients. In these alpha-reactive participants, there was lower reactivity in the parietal alpha source activities in the PDD group than in the healthy control seniors and the ADD patients. These results suggest that PDD patients show poor reactivity of mechanisms desynchronizing posterior rsEEG alpha rhythms in response to visual inputs. That neurophysiological biomarker may provide an endpoint for (non) pharmacological interventions for improving vigilance regulation in those patients.
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Enfermedad de Alzheimer , Demencia , Enfermedad de Parkinson , Humanos , Ritmo alfa/fisiología , Enfermedad de Parkinson/complicaciones , Demencia/etiología , Corteza Cerebral/fisiología , Descanso/fisiología , Electroencefalografía/métodosRESUMEN
This review article explores the use of Virtual Reality (VR) technology in cognitive rehabilitation for individuals with neurological conditions, such as stroke, traumatic brain injury, and neurodegenerative diseases. The introduction highlights the challenges posed by cognitive impairments and the limitations of traditional rehabilitation methods. VR is presented as a transformative tool that immerses individuals in interactive environments, offering promising opportunities for enhancing cognitive functions and improving quality of life. This article covers the foundational principles of VR, its applications across different clinical conditions and cognitive domains, and evaluates empirical evidence supporting its efficacy. It also discusses the advantages, limitations, challenges, and ethical considerations in the use of VR for cognitive rehabilitation. This review concludes by exploring future developments, including advancements in VR technology, the integration of Augmented Reality (AR) and artificial intelligence (AI), and the importance of standardized assessment tools for the objective evaluation of rehabilitation outcomes.
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OBJECTIVE: To investigate the prevalence of sleep disturbances (SDs), their related comorbidities, interventions and the impact on the family for individuals with current SDs and those who had SDs in the past. METHODS: Members of the Italian national association of parents of persons with autism (ANGSA) completed an anonymous online survey collecting demographic data, the presence of comorbidities and specific information on sleep arrangement and sleep disorders using a modified version of the of the Sleep Disturbance Scale for Children (SDSC). RESULTS: The final sample consisted of 143 participants, 90 patients presented current SDs (C_SDs) and 53 reported previous SDs (P_SDs). In the C_SDs group, the most prevalent sleep disorders were related to insomnia and, especially, difficulty falling asleep; a high number of individuals presented with restless sleep. Also, the parents in the P_SDs group retrospectively reported a high prevalence of insomnia with difficulty falling asleep, night awakenings and restless sleep. Parents reported that sleep hygiene practice were effective in less than one third of cases in both groups and the most used compound was immediate-release melatonin, followed by antihistamines and then benzodiazepines, antipsychotics, and antidepressants, with approximately 60-70% reported efficacy. Parents of both groups reported that insomnia negatively affected their children behavior and caused stress, mood changes or physical fatigue in their daily life. CONCLUSION: Our study shows that insomnia is most prevalent in individuals with autism with several consequences on children and family behavior and quality of life. As reported by parents, melatonin might be helpful for sleep disturbances in these children and the causes of restless sleep need further investigations.
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Trastorno del Espectro Autista , Melatonina , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Niño , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Calidad de Vida , Estudios Retrospectivos , Trastornos del Sueño-Vigilia/epidemiología , Sueño , PadresRESUMEN
Purpose: Early and Intensive Behavioral Treatments are considered to be evidence-based interventions for children with Autism Spectrum Disorder (ASD). Nevertheless, children with ASD might not always have the opportunity to benefit from intensive treatment; new, more accessible and alternative treatment options need to be tested. The aim of this study was to evaluate the effectiveness of the Combined Low-intensive Psychoeducational Intervention (CLI-PEI) delivered to preschoolers with ASD at the end of the pre-primary school day.Methods: A quasi-experimental design study, namely a pretest-posttest alternative-treatment comparison groups design, was used. Treatment sessions were carried out over a period of 12 months. Forty-three individuals with autism were included in the study: 24 received the CLI-PEI and 19 were administered the Treatment As Usual. A pre- and posttreatment assessment was carried out using the Psychoeducational Profile-Third edition and the Vineland Adaptive Behavior Scale.Results: The children who received the CLI-PEI showed better gains in both developmental and maladaptive behaviors; furthermore, increased skills were found in all adaptive domains.Conclusions: The CLI-PEI might seems to be a viable treatment option for children with ASD, when intensive behavioral treatments are not accessible.Implication for rehabilitationChildren with ASD might not always have the opportunity to benefit from intensive treatment.The identification of more accessible, less intensive and less expensive evidence-based psychoeducational interventions might represent an appealing challenge for rehabilitation therapists.Less intensive and less expensive evidence-based interventions might also represent a viable option for children and their families, especially in communities with limited resources for autism.A pragmatic approach including components from evidence-based treatments might guarantee flexibility and the possibility to implement an intervention well-tailored to the specific child needs.CLI-PEI for preschoolers with ASD seems to be a promising pragmatic approach, promoting improvements in developmental, adaptive and maladaptive domains.
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Trastorno del Espectro Autista/terapia , Terapia Conductista/métodos , Discapacidades del Desarrollo/rehabilitación , Intervención Educativa Precoz/métodos , Intervención Médica Temprana/métodos , Discapacidades para el Aprendizaje/rehabilitación , Trastorno del Espectro Autista/psicología , Niño , Preescolar , Femenino , Humanos , Italia , Masculino , Resultado del TratamientoRESUMEN
The aim of this study is to better understand the relationship between sensory and feeding problems in Autism Spectrum Disorder (ASD) by comparing sensory responsiveness of ASD children with (ASD-W) and without (ASD-WO) feeding problems. The feeding and sensory characteristics of 111 children with ASD (37 ASD-W and 74 ASD-WO) were assessed by using two questionnaires tapping on feeding problems and two on sensory problems. A comparative study was carried out with between-group as well as intra-group comparisons design; a correlation analysis was also added. A statistically significant correlation was found between sensory and feeding problems. ASD-W children showed more severe and extensively impaired sensory responses than ASD-WO, with lower sensory adaptation and more generalized and severe deficits in all subdomains. Taste/Smell sensitivity was strongly impaired only in ASD-W, whereas in ASD-WO it was found to be a point of strength. Both groups showed a Hyporesponsive profile, though it was more marked in ASD-W. Both groups showed strengths in Visual/Auditory sensitivity, Low-Energy/Weak, and Movement sensitivity, again more marked in ASD-WO. These results might prove to be particularly useful for sensory training and psychoeducational treatment.
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Background: Virtual Reality (VR) is acquiring increasing credibility as a tool for teaching independent living skills to people with Intellectual Disability (ID). Generalization of skills acquired during VR training into real environment seems to be feasible. Objective: To assess feasibility and verify effectiveness of a remote home-based rehabilitation, focused on functional living skills, for adolescents and young adults with ID, by using virtual apps installed on tablets. In particular, to assess if this tool can be managed independently, if it is enjoyable and simple to be used, and if the acquired skills can be generalized to the real environment of everyday life. Subjects and method: A single group, pre- and post-test research design was used. Sixteen participants with ID were included. A digital system was arranged, with a server managing communication between the database and the apps installed on tablets. In vivo tests were performed before and after the eleven sessions of VR training. Satisfaction questionnaires were also administered. Results: Statistically significant improvements were found between the pre- and post-in vivo tests, as well as between the VR training sessions, in almost all the parameters taken into account, for each app. Final questionnaires showed a good satisfaction level for both the participants and their families. Conclusion: The highly technological system was managed independently by participants with ID, who found it simple to be used, useful and even fun; generalization across settings was obtained. Results obtained require to be confirmed by future controlled studies, with larger samples.
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AIM: Feeding problems are documented in several developmental disabilities. This paper aims to present early results from the implementation of a day-center, multidisciplinary, intensive, behaviorally-based treatment package for feeding problems, delivered to children with developmental disabilities, namely Autism Spectrum Disorder (ASD) and Intellectual Disability (ID). METHODS: This is a quasi-experimental design study. Both an AB design (measures were administered at pre- and post-treatment times) and a comparison design were used; a follow-up was carried out after one year from the end of the treatment. A total of 18 children, 8 with ASD and 10 with ID, were included in the study. Body weight, count of food types and textures accepted, length of the meal, count of problem behaviour topographies, count of individuals with proper chewing and BAMBI-18 scores were the measures chosen to check the effectiveness of the treatment. RESULTS: Statistically significant differences between pre-, post-treatment and follow-up were found, with decreased problem behavior during meals and increased body weight, effective chewing and food variety (type and texture). CONCLUSIONS: Despite its relatively short duration, this treatment package appeared to be effective in improving behaviors at mealtime in both children with ASD and ID; if confirmed by future studies, the program could represent an interesting model for treating feeding problems in children with special needs, because it is implemented in a day service (with lower costs compared to residential or hospital services), takes advantage from family co-therapy, and can be integrated in a global psychoeducational program.
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Terapia Conductista , Conducta Alimentaria , Trastornos de Ingestión y Alimentación en la Niñez/terapia , Trastorno del Espectro Autista/complicaciones , Guarderías Infantiles , Preescolar , Trastornos de Ingestión y Alimentación en la Niñez/complicaciones , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Resultado del TratamientoRESUMEN
BACKGROUND: No standard protocols are available for cognitive rehabilitation (CR) in conditions like Major or Mild Neurocognitive disorder (M-NCD or m-NCD, respectively); however, preliminary data seem to indicate that such interventions might have cost-effective beneficial effects and are free from side effect or adverse events. Three basic approaches are known: cognitive stimulation (CS), cognitive training (CT), and CR. OBJECTIVE: Aim of this study was to assess the efficacy of a protocol of group intensive cognitive activation (g-ICA) in patients with both M-NCD and m-NCD; the protocol was specifically arranged in our Research Institute, based on the principles of the central role of the patient and the mediation pedagogy. SUBJECTS AND METHODS: Sixteen patients with M-NCD and fifteen patients with m-NCD were enrolled, as well as eleven patients with M-NCD who were used as a control group (CG). The intervention was carried-out by a clinical neuropsychologist with daily group sessions over a period of 2 months. Neuropsychological assessment was performed at baseline and after the completion of the rehabilitative intervention. RESULTS: General cognitive functioning, attention, ideomotor praxis and visual memory scores were found to be significantly increased in all patients. Beneficial and significant effects were also found for constructive praxis in M-NCD and for executive functioning in m-NCD. All areas of the language function were significantly ameliorated in m-NCD, while this happened only for verbal repetition and syntax-grammar comprehension in M-NCD. No changes were detected for long- and short-term verbal memory, which were found to be worsened in controls without activation. CONCLUSION: Our findings seem to indicate that g-ICA might be effective in inducing beneficial changes on the general cognitive functioning and other specific functions in patients with both m-NCD and M-NCD. Moreover, the specific protocol proposed, even if susceptible of important improvement, is easy to carry out within hospital facilities and cost-effective.
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BACKGROUND: Deficits in executive functions (EF) are frequently observed in autism spectrum disorder (ASD) and in attention deficit hyperactivity disorder (ADHD). The aim of this study was to evaluate executive performances of children with ASD and ADHD, and then make between-group comparisons as well as comparisons with a control group. METHODS: A total of 58 subjects were recruited, 17 with ASD but without intellectual impairment, 18 with ADHD-combined presentation and 23 with typical development, matched on gender, chronological age and intellectual level. They were tested on some EF domains, namely planning, mental flexibility, response inhibition and generativity, which account for both metacognitive and emotional/motivational executive functions. Results. Results showed a large overlapping of EF dysfunctions in ASD and ADHD and were not indicative of the presence of two real distinct EF profiles. Nevertheless, in ADHD, a more severe deficit in prepotent response inhibition (emotional/motivational EF) was found. CONCLUSIONS: Results are partially consistent with those found in the literature. Further studies with larger samples are needed to determine how ASD and ADHD differ in terms of their strengths and weaknesses across EF domains.
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Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Emociones , Función Ejecutiva , Motivación , Estudios de Casos y Controles , Niño , Femenino , Humanos , Inhibición Psicológica , Masculino , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Many patients with dementia live in the community and depend on a family member for assistance. Taking care of non-self-sufficient people such as those with dementia causes distress. This study concerns factors contributing to feelings of burden and consequent coping strategies adopted by family caregivers of patients with Alzheimer's disease living in the community. METHODS: The severity of the caregiver burden (Caregiver Burden Inventory and the Neuropsychiatric Inventory Caregiver Distress Scale) was evaluated in relation to the cognitive, behavioral, functional, mood, motor and comorbidity status in 73 consecutive patients with Alzheimer's disease. The type of coping processes (Coping Orientation to Problem Experienced), and psychosocial and medical variables of caregivers were also investigated and correlated with the degree of their distress. RESULTS: The amount of burden for caregivers, was found to be positively correlated with several measures of cognitive, psychological, behavioral, and motor impairment of the patients. The severity of caregiver distress was correlated with specific coping strategies, such as seeking for social support, using avoidance behaviors and focusing on problems. Finally, caregivers needing higher levels of familial and/or social support had also higher levels of distress. CONCLUSIONS: Higher cognitive, psychological, behavioral, and motor impairment of patients with Alzheimer's disease are associated with increasing levels of burden and distress in their caregivers, who need to adopt adequate coping strategies and to seek for familial and social support.
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Adaptación Psicológica , Enfermedad de Alzheimer/enfermería , Cuidadores/psicología , Costo de Enfermedad , Familia/psicología , Índice de Severidad de la Enfermedad , Apoyo Social , Anciano , Femenino , Humanos , Vida Independiente , Masculino , Persona de Mediana EdadRESUMEN
Executive functions (EF) in autism spectrum disorders (ASD) have been often investigated, although results seem to be rather inconsistent. The first aim of this study was to detect which EF components are common to the ASD continuum (from high- to low-functioning ASD) and identify a possible EF profile for ASD people. Planning, mental flexibility, inhibition of response, generativity, and ecologic EF were investigated. This study was extended not only to high-functioning ASD, but also to ASD with intellectual disability (ID). The second aim was to find EF aspects correlating with adaptive skills in ASD. A total of 61 children participated in the study (27 ASD with and without ID and 34 controls). Results highlight an executive profile characterised by impaired flexibility and deficient planning; these deficits are associated with decreased adaptive ability, particularly socialization, and a deficient shifting in ecologic conditions. These features are present in all ASD subgroups with and without ID; for this reason, they might be assumed as being specific features in ASD.
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This report, based on four studies with children with low-functioning autism, aimed at evaluating the effects of repetitive transcranial magnetic stimulation delivered on the left and right premotor cortices on eye-hand integration tasks; defining the long-lasting effects of high-frequency repetitive transcranial magnetic stimulation; and investigating the real efficacy of high-frequency repetitive transcranial magnetic stimulation by comparing three kinds of treatments (high-frequency repetitive transcranial magnetic stimulation, a traditional eye-hand integration training, and both treatments combined). Results showed a significant increase in eye-hand performances only when high-frequency repetitive transcranial magnetic stimulation was delivered on the left premotor cortex; a persistent improvement up to 1 h after the end of the stimulation; better outcomes in the treatment combining high-frequency repetitive transcranial magnetic stimulation and eye-hand integration training. Based on these preliminary findings, further evaluations on the usefulness of high-frequency repetitive transcranial magnetic stimulation in rehabilitation of children with autism are strongly recommended.
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Trastorno Autístico/rehabilitación , Discapacidad Intelectual/rehabilitación , Corteza Motora , Desempeño Psicomotor , Estimulación Magnética Transcraneal/métodos , Adolescente , Trastorno Autístico/complicaciones , Niño , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Trastornos de la Destreza Motora/complicaciones , Trastornos de la Destreza Motora/rehabilitación , Terapia Ocupacional , Adulto JovenRESUMEN
Transforming growth factor-ß1 (TGF-ß1) is a neurotrophic factor that exerts neuroprotective effects against ß-amyloid-induced neurodegeneration. Recently, a specific impairment of the TGF-ß1 signaling pathway has been demonstrated in Alzheimer's disease (AD) brain. TGF-ß1 is also involved in the pathogenesis of depressive disorders, which may occur in 30-40% of AD patients. The TGF-ß1 gene contains single nucleotide polymorphisms (SNPs) at codon +10 (T/C) and +25 (G/C), which are known to influence the level of expression of TGF-ß1. We investigated TGF-ß1 +10 (T/C) and +25 (G/C) SNPs and allele frequencies in 131 sporadic AD patients and in 135 healthy age- and sex-matched controls. Genotypes of the TGF-ß1 SNPs at codon +10 (T/C) and +25 (G/C) did not differ between AD patients and controls, whereas the allele frequencies of codon +10 polymorphism showed a significant difference (P = 0.0306). We also found a different distribution of the +10 (C/C) phenotype (continuity-corrected χ(2) test with one degree of freedom = 4.460, P = 0.0347) between late onset AD (LOAD) patients and controls (P = 0.0126), but not between early onset AD (EOAD) patients and controls. In addition, the presence of the C/C genotype increased the risk of LOAD regardless of the status of apolipoprotein E4 (odds ratio [OR] = 2.34; 95% CI = 1.19-4.59). Compared to patients bearing the T/T and C/T polymorphisms, LOAD TGF-ß1 C/C carriers also showed > 5-fold risk to develop depressive symptoms independently of a history of depression (OR = 5.50; 95% CI = 1.33-22.69). An association was also found between the TGF-ß1 C/C genotype and the severity of depressive symptoms (HAM-D(17) ≥ 14) (P < 0.05). These results suggest that the CC genotype of the TGF-ß1 gene increases the risk to develop LOAD and is also associated with depressive symptoms in AD.