The Social and Cognitive Online Training (SCOT) project: A digital randomized controlled trial to promote socio-cognitive well-being in older adults.

OBJECTIVES: Effective prevention programs targeting risk factors for cognitive decline in the elderly are recommended given the progressive increase in the aging of the general population. The Social and Cognitive Online Training (SCOT) project is a randomized, controlled, parallel clinical trial designed to prevent the age-related decline in executive and social functions. METHODS: The study included 60 cognitively healthy older adults (age = 71.8±5.3, education = 12.3±3.7, MoCA = 25.1±2.4). Participants underwent a baseline clinical and neuropsychological assessment and were then assigned to either an experimental group (SCOT) or a non-specific cognitive training group (CON). Both 8-week digital interventions included two individual cognitive training sessions and one group meeting per week. Post-intervention assessment evaluated the efficacy of the training on specific outcome measures: the Tower of London for executive functioning, the Ekman-60 Faces test, and the Mini-Social cognition & Emotional Assessment battery for social cognition. A measure of loneliness was included as an exploratory outcome. RESULTS: Baseline demographic and neuropsychological characteristics were balanced between SCOT (n = 29) and CON (n = 28) groups. Pre-post-intervention analyses showed improvements in executive functioning and social cognition in both groups, without significant interaction effects. Exploratory post-hoc analyses stratifying the SCOT group by training performance showed significant post-training improvements in executive functioning, emotion recognition, and cognitive theory of mind for high-performing participants. DISCUSSION: Results provide preliminary evidence for the beneficial effects of SCOT training, particularly for those who performed best during the training. The SCOT training could represent a new intervention to promote socio-cognitive well-being in the context of active ageing and dementia prevention.

The FACE test: a new neuropsychological task to assess the recognition of complex mental states from faces.

BACKGROUND: Social cognition deficits are reported in several neurodegenerative diseases, including Parkinson's disease (PD). However, the availability of tasks for the clinical assessment is still limited, preventing the full characterization of socio-cognitive dysfunctions in neurological patients. This study aims to present a new task to assess the recognition of complex mental states from faces (FACE test), reporting normative data for the Italian population and an example of its clinical application to 40 PD patients. METHODS: Two-hundred twenty-nine Italian participants with at least 5 years of education were enrolled. Data were analyzed according to the method of equivalent scores; test-retest reliability and convergent validity were assessed. Two short versions of the FACE test were defined for clinical and research purposes. The prevalence of deficits in the FACE test was computed in the PD sample, as well as correlations with cognitive performance and diagnostic accuracy. RESULTS: Regression analyses revealed significant effects of demographic variables on FACE performance, with younger and more educated individuals showing higher scores. Twenty-eight percent of PD patients showed borderline/pathological performance, which was correlated with emotion recognition/attribution abilities, and attentive-executive functions. The FACE test was accurate (80%) in distinguishing PD patients with socio-cognitive dysfunctions from both controls and PD patients without emotion recognition/attribution difficulties. CONCLUSION: The FACE test represents a new tool assessing the ability to recognize complex mental states from facial expressions. Overall, these results support its use in both clinical and research settings, as well as the presence of affective processing deficits in a subsample of PD patients.

Deficits in Emotion Recognition and Theory of Mind in Parkinson's Disease Patients With and Without Cognitive Impairments.

Background: Emotion recognition and social deficits have been previously reported in Parkinson's disease (PD). However, the extent of these impairments is still unclear and social cognition is excluded from the cognitive domains considered in the current criteria for PD mild cognitive impairment (MCI). This study aims to analyze emotion recognition, affective and cognitive theory of mind in early PD patients classified according to Level II MCI criteria, and to evaluate the prevalence of socio-cognitive deficits in this sample. Methods: We enrolled 45 participants with PD, classified as cognitively unimpaired (CU; n = 32) or MCI (n = 13) based on a standard neuropsychological assessment. Social cognitive skills were evaluated through validated tests for emotion recognition (i.e., Ekman 60-faces test, Ek60 Test) and mental states attribution (Story-based Empathy Task, SET) and compared to a group of 45 healthy controls (HC). Between-group differences in social tasks were performed, as well as correlation analyses to assess the relationship between social, cognitive, and clinical variables. Finally, the number of patients with social cognitive impairments in both MCI and CU subgroups was computed based on Italian normative data. Results: Statistical comparison revealed significant differences among groups in the Ek60 test, with MCI obtaining significantly lower scores than HC and CU, especially for negative emotions. Significant differences were detected also in the SET, with lower performance in emotion and intention attribution for both PD groups compared to HC. A significant correlation emerged between the Ek60 test and emotion attribution. Nine patients showed poor performance at social tasks, five of them being classified as PD-CU. Discussion: Parkinson's disease cognitive profile was characterized by emotion recognition and attribution deficits. These results, as well as the detection of CU patients with isolated socio-cognitive impairments, underline the importance of assessing social cognition in PD as a possible early marker of cognitive decline.

Lockdown effects on Parkinson's disease during COVID-19 pandemic: a pilot study.

The coronavirus-disease 2019 (COVID-19) outbreak precipitated prolonged lock-down measures. The subsequent social distancing, isolation, and reduction in mobility increased psychological stress, which may worsen Parkinson's disease (PD). Therefore, telemedicine has been proposed to provide care to PD patients. To evaluate the effects of lock-down on motor and nonmotor symptoms in PD patients during the COVID-19 pandemic and the feasibility of telemedicine. Motor and nonmotor aspects were longitudinally assessed using structured questionnaires at baseline (in-person, February 2020) and at follow-up (remote web-based video, lock-down) evaluation. Of the seventeen PD patients evaluated at baseline, fourteen agreed to participate in, and completed follow-up evaluations. There was an impairment of nonmotor aspects measured with the MDS-UPDRS part I (p < 0.001) during lock-down. Nine patients participated independently in the telemedicine evaluation while five needed help from relatives. Our preliminary findings suggest an impairment of nonmotor symptoms in PD patients and support the feasibility and need for telemedicine in monitoring PD patients during the COVID-19 pandemic, to guarantee optimal assistance with reducing the burden of infection. Our findings also suggest that movement disorder clinics should be carefully considering socio-demographics and clinical features when developing telemedicine programs.

Cognitive phenotypes in Parkinson's disease: A latent profile analysis.

OBJECTIVES: Neurocognitive disorders in Parkinson's disease (PD) are common and heterogeneous. The aim of this study was to use a data-driven method to describe different cognitive phenotypes in PD and to explore anxiety, depression, and motor disturbances across the different cognitive profiles. METHOD: Latent profile analysis was applied to the neuropsychological performances of 65 patients with idiopathic PD assessed by means of a battery of tests that encompass measures of attention, memory, executive functions, social cognition, language, and visuospatial abilities. RESULTS: A three-cluster model produced the best solution: Cluster A (21.54%) included patients with intact cognition or with a relatively slight cognitive impairment in memory and executive functioning; Cluster B (53.85%) included patients with an intermediate level of cognitive impairment; and Cluster C (24.61%) included patients with the most severe cognitive impairment, with greater deficit compared to Cluster B in executive functioning, and, notably, in tasks with a predominantly posterior cortical basis (naming and visuospatial abilities). The three subgroups did not differ in terms of age, gender, disease duration, motor symptom severity or side of onset, levodopa equivalent daily dose, level of anxiety, or depression; however, patients from Cluster C showed greater impairment than patients from Cluster A in measures of everyday functioning. CONCLUSIONS: We presented a qualitative description of three distinct cognitive phenotypes emerging from a sample of 65 PD patients. The three clusters seem to be related to daily functioning but are independent from the stage of disease, motor functioning, anxiety, and depression. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

The Role of Social Cognition Abilities in Parkinson's Disease in the Era of COVID-19 Emergency.

Introduction: Parkinson's Disease (PD) is characterized by motor and non-motor symptoms, among which deficits in social cognition might affect ~20% of patients. This study aims to evaluate the role of social cognitive abilities in the perceived impact of COVID-19 emergency, and the effects of lockdown measures on patients' social network and caregivers' burden. Methods: Fourteen PD patients performed a neuropsychological battery including sociocognitive tasks before the introduction of COVID-19 restrictive measures (i.e., social distancing and isolation). A structured interview through an online platform was performed in the last 2 weeks of the first lockdown phase to assess patients' health status, perception of COVID-19 emergency, changes in caregivers' burden, and patients' social isolation. Non-parametric analyses were performed to evaluate the association between social skills and patients' COVID-19 perception, as well as the effects of restrictive measures. Results: At baseline evaluation, half of the PD patients showed sociocognitive dysfunctions, mainly on mentalizing abilities. Patients with impaired social cognition skills showed a significantly lower concern on the possible effects of COVID-19 on their health. Caregiver burden and patients' social network remained stable during the lockdown. Conclusion: These preliminary results underline that PD sociocognitive dysfunctions might affect patients' abilities to estimate the effects of COVID-19 infection. However, the lack of a significant increase in caregivers' burden and social isolation suggests, in our sample, a good coping to COVID-19 emergency. Since COVID-19 pandemic can have direct and indirect severe consequences in patients with PD, the development of educational and preventive programs is recommended.

Facial expressions recognition and discrimination in Parkinson's disease.

Emotion processing impairment is a common non-motor symptom in Parkinson's Disease (PD). Previous literature reported conflicting results concerning, in particular, the performance for different emotions, the relation with cognitive and neuropsychiatric symptoms and the affected stage of processing. This study aims at assessing emotion recognition and discrimination in PD. Recognition of six facial expressions was studied in order to clarify its relationship with motor, cognitive and neuropsychiatric symptoms. Sensitivity in discriminating happy and fearful faces was investigated to address controversial findings on impairment in early stages of emotion processing. To do so, seventy PD patients were tested with the Ekman 60 Faces test and compared with 46 neurologically unimpaired participants. Patients' performances were correlated with clinical scales and neuropsychological tests. A subsample of 25 PD patients and 25 control participants were also tested with a backward masking paradigm for sensitivity in happiness and fear discrimination. Results showed that PD patients were impaired in facial emotion recognition, especially for fearful expressions. The performance correlated with perceptual, executive and general cognitive abilities, but facial expression recognition deficits were present even in cognitively unimpaired patients. In contrast, patients' sensitivity in backward masking tasks was not reduced as compared to controls. Taken together our data demonstrate that facial emotion recognition, and fear expression in particular, is critically affected by neurodegeneration in PD and related to cognitive abilities; however, it appears before other cognitive impairments. Preserved performances in discriminating shortly presented facial expressions, suggest unimpaired early stages of emotion processing.

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.

CONTEXT: Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization. OBJECTIVE: Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease. DESIGN: We conducted a multicenter cross-sectional observational study from August 2012 to December 2013. STUDY SETTING: All subjects were outpatients referred to University Referral Centers. PATIENTS: PATIENTS included 22 late-onset Pompe disease patients with progressive proximal myopathy and minimal respiratory involvement without other diseases affecting bone mass. MAIN OUTCOME MEASURE: The prevalence of morphometric vertebral fractures was systematically assessed by semiquantitative analysis of lateral spine x-rays (T4-L5). RESULTS: A high prevalence of morphometric vertebral fractures was found. At least 1 vertebral fracture was present in 17 of 22 patients (77%). All vertebral fractures were asymptomatic. Bone mineral density was normal in 36.5% of the patients, whereas 36.5% were osteopenic and 27% were osteoporotic in at least 1 site. Fracture prevalence was independent of muscular and respiratory functional parameters and of genotype. CONCLUSIONS: Our data show for the first time that asymptomatic and atraumatic vertebral fractures occur frequently in late-onset Pompe disease patients without a significant impairment of bone mass. Screening for asymptomatic vertebral fractures should be routinely performed in Pompe disease irrespective of the disease severity. Fracture risk should be confirmed in longitudinal studies.

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

Leukoencephalopathy is a hallmark of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) a devastating disorder characterized by ptosis, ophthalmoparesis, gastrointestinal dysfunction and polyneuropathy. To characterize MNGIE-associated leukoencephalopathy and to correlate it with clinical, biochemical and molecular data, four MNGIE patients with heterogeneous clinical phenotypes (enteropathic arthritis, exercise intolerance, CIDP-like phenotype and typical presentation) were studied by magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). Diffusion weighted imaging (DWI) with apparent diffusion coefficient (ADC) maps were also obtained. In two patients we also investigated the role of brain MRI in monitoring the evolution of leukoencephalopathy by performing follow-up imaging studies at an interval of one and two years. The extension and distribution of leukoencephalopathy were not clearly linked with age, phenotype or disease severity, and did not seem to be related to TYMP mutations, enzyme activity or pyrimidine levels. In the studied patients MRS revealed reduced N-acetyl-aspartate and increased choline signals. Although DWI appeared normal in all patients but one, ADC maps always showed moderate increased diffusivity. Leukoencephalopathy worsened over a two-year period in two patients, regardless of the clinical course, indicating a lack of correlation between clinical phenotype, size and progression of white matter abnormalities during this period. Brain MRI should be considered a very useful tool to diagnose both classical and atypical MNGIE. Serial MRIs in untreated and treated MNGIE patients will help to establish whether the leukoencephalopathy is a reversible condition or not.

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.

Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of "pure" mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders.

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy and diffuse leukoencephalopathy, which usually lead to death in early adulthood. Therapeutic options are currently available in clinical practice (allogeneic hematopoietic stem cell transplantation and carrier erythrocyte entrapped TP therapy) and newer, promising therapies are expected in the near future. However, successful treatment is strictly related to early diagnosis. We report on an incomplete MNGIE phenotype in a young man harboring the novel heterozygote c.199 C>T (Q67X) mutation in exon 2, and the previously reported c.866 A>C (E289A) mutation in exon 7 in TYMP. The correct diagnosis was achieved many years after the onset of symptoms and unfortunately, the patient died soon after diagnosis because of multiorgan failure due to severe malnutrition and cachexia before any therapeutic option could be tried. To date, early diagnosis is essential to ensure that patients have the opportunity to be treated. MNGIE should be suspected in all patients who present with both gastrointestinal and nervous system involvement, even if the classical complete phenotype is lacking.