Inherited Diseases, Caregiving, and Social Networks
Undiagnosed DiseaseHealthy Volunteer (Adult With Typically Developing Child)3 moreApproximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap. Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives. This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol. We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills.
Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower)
Parkinson DiseaseNeurodegenerative Diseases5 moreThe purpose of this study is to understand variation in the symptoms of Parkinson disease. This study uses an iPhone app to record these symptoms through questionnaires and sensors.
Quantification of Transition Metals
Neurodegenerative DiseasesInfectionsIn this trial, concentrations of transition metals of interest are quantified in surplus cerebrospinal fluid (CSF) and blood serum samples. Quantification of the transition metals will be performed by inductively coupled plasma mass spectrometry (ICP-MS). The treating physicians as well as the patients will not be informed about the results of drug concentrations.
Community-based Cohort of Functional Decline in Subjective Cognitive Complaint Elderly
Subjective Cognitive ComplaintActivities Daily Living7 moreBackground With the global population aging and life expectancy increasing, dementia has turned a priority in the health care system. In Chile, dementia is one of the most important causes of disability in elderly, corresponding nearly to 40% of cases, and the most rapidly growing cause of death in the last twenty years. Cognitive complaints are considered a marker able to predict cognitive and functional decline, incident mild cognitive impairment (MCI), and incident dementia. The Gero cohort is the Chilean core clinical project of the Gerocenter on Brain Health and Metabolism (GERO), whose aim is to establish the capacity in Chile to foster cutting edge and multidisciplinary research on aging. Objective This study has two main objectives. First, i) to analyze the rate of functional decline and progression to clinical dementia and their risks factors (biomedical, imaging, psychosocial, and clinical) in a community-dwelling elderly with subjective cognitive complaint, through a population-based study. Second, ii) to build the capacity to undertake clinical research on brain aging and dementia disorders and create Data-Bank and Bio-Banks with an appropriate infrastructure to further studies and facilitate access to the data and samples for research. Methods The Gero cohort aims at recruiting 300 elderly subjects (>70 years) from the community of Santiago (Chile), following them up for at least 3 years. Eligible people are non-demented adults with subjective cognitive complaint, which are reported either by the participant, the proxy or both. Participants are identified through a household census. The protocol of evaluation is based on a multidimensional approach including socio-demographic, biomedical, psychosocial, neuropsychological, neuropsychiatric and motor assessments. Neuroimaging, blood and stool sample samples are also included. This multidimensional evaluation is carried out in a baseline assessment and 3 follow-ups assessment, at 18 and 36 months. In addition, in months 6, 24, and 30, a telephone interview is done in order to keep contact with the participants and to assess general well-being.
Decreased Empathy and Emotion Recognition in Patients With Neurodegenerative Disease
Neuro-Degenerative DiseaseDementia5 moreThis study evaluates an educational brochure tailored to caregivers of people with Alzheimer's disease, Parkinson's disease dementia, Lewy body disease, frontotemporal dementia, and vascular disease dementia. The goal of the brochure is educating caregivers about the decreased ability to detect emotion and decreased empathy that can be seen in dementia, increasing caregiver competence in providing care, and teaching caregivers ways to manage over time that lessens burden and improves quality of life.
The Long-Term Safety and Efficacy Follow-Up Study of Subjects Who Completed the Phase I Clinical...
Alzheimer DiseaseDementia10 moreThe purpose of the study is to determine the long-term safety and exploratory efficacy of NEUROSTEM®-AD, administered via an open brain surgery to subjects with dementia of the Alzheimer's type, who were eligible for and enrolled in the earlier part of the phase I. Aside from the subjects who completed the earlier part of the Phase I, 3 additional subjects with comparable demographics and disease characteristics as the treatment group will be enrolled into a control group, followed-up for 3 months, and compared for various disease progression indicators with the treatment group. The hypothesis is that NEUROSTEM®-AD is safe and effective in the treatment of dementia of the Alzheimer's type.
Search for Biomarkers of Neurodegenerative Diseases in Idiopathic REM Sleep Behavior Disorder
REM Sleep Behavior DisorderNeurodegenerationThis study is a prospective study with a mean of 7-year follow-up interval, aims to monitor the progression of α-synucleinopathy neurodegeneration by the evolution of prodromal markers and development of clinical disorders in patients with idiopathic REM Sleep Behavior Disorder (iRBD) and healthy controls.
Cognition and NeuroImaging in neuroDegenerative Disorders (CogNID)
Dementia (Diagnosis)This prospective study aims: to compare cognitive performance in different clinical groups of participants with mild cognitive impairment (MCI) or mild dementia [Alzheimer's Disease (AD), Vascular Cognitive Impairment (VCI) and Fronto-temporal Dementia (FTD)] to determine whether scores reveal differential profiles between the groups, to demonstrate differences in imaging markers between different dementia syndromes and healthy volunteers using ultra high-field MRI at 7T.
Inflammation and Neurocognitive Damage Markers in Elderly People With Obstructive Sleep Apnea
Obstructive Sleep ApneaSleep Apnea7 moreThe aging process tends to promote an overall increase in inflammation compromising the immunologic system regulation, sleep/wakefulness pattern, and neurocognitive performance. In elders, there is an increase in repetitive arousals during sleep, secondary to breathing interruption by pharynx collapse, generating a transient reduction in oxygen delivery to the brain known as obstructive sleep apnea. This lack in oxygen supply results in an inflammatory process producing brain damage. Some substances present in the blood seem to be associated to neurocognitive damage, like S100β protein, cortisol, interleukin 1-β,6 and TNF-α. In the other way, a substance called brain-derived neurotrophic factor (BDNF) enhances cognitive function, and memory consolidation improvement.
Electronic Nose for Diagnosis of Neurodegenerative Diseases Via Breath Samples
Neurodegenerative DiseasesThe diagnosis of neurodegenerative conditions and ADHD still mostly relies on clinical symptoms as there are no validated, inexpensive, and simple bio- markers available yet. The purpose of this study is to deliver a proof-of-concept for novel biomarkers to identify neurodegenerative conditions and ADHD based on breath testing. Alveolar breath will be collected from healthy volunteers, patients with extrapyramidal conditions, patients diagnosed with dementia and from ADHD subjects. The discriminative power of a tailor-made Nanoscale Artificial Nose (™NA-NOSE) containing an array of six nanomaterial-based sensors will be tested. Discriminant factor analysis will be applied to the NA-NOSE signals in order to detect statistically significant differences between the sub-populations, and classification success will be estimated using leave-one-out cross-validation. The identification of NA-NOSE patterns will be supported by analyzing the chemical composition of the breath using gas-chromatography in conjunction with mass-spectrometry (GC-MS).