Access to social services for undiagnosed rare disease patients in France: A pilot study.

Although the challenge of access to care for undiagnosed rare disease patients is well documented in the literature, little is known about lack of diagnosis preventing access to social services. Yet this has serious consequences for patients and their families because disability associated with rare disease requires frequent and costly multi-disciplinary support. The aim of this research is to explore, in the French context, access to social assistance for rare disease patients.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

Background: In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluate their implications in care organisation, we retrospectively evaluated, in a cohort of 700 consecutive probands, the frequency and burden of introducing the search for variants in a maximum list of 244 medically actionable genes (genes that predispose carriers to a preventable or treatable disease in childhood/adulthood and genes for genetic counselling issues).

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate.

[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].

Introduction: The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses.

Methods: Geneticists attending a clinical genetics seminar were invited to complete a questionnaire.

Exercise Training for Preventing Dementia, Mild Cognitive Impairment, and Clinically Meaningful Cognitive Decline: A Systematic Review and Meta-analysis.

Background: To assess the effects of long-term exercise on the onset of dementia, mild cognitive impairment (MCI), and other clinically meaningful cognitive decline in the elderly adults.

Methods: Systematic review with preplanned meta-analysis. Electronic searches were performed between November 2016 and May 2017.

Adverse effects of pneumonia on physical functioning in nursing home residents: Results from the INCUR study.

Background: Pneumonia is a very common infection in the nursing home, but little is known about its effects on levels of individual functioning. The aim of this study was to examine adverse effects of pneumonia events on physical functioning in nursing home residents.

Methods: Data were used from the INCUR study, a 1-year prospective cohort study of older residents from 13 nursing homes in France.

Clinical research for older adults in rural areas: the MINDED study experience.

Due to the growing need to make clinical decisions based on valid and objective scientific evidence, the number of randomized controlled trials (RCTs) has increased over the last three decades. Nevertheless, evidence-based medicine has still limited applicability in older adults, because they are often excluded from clinical trials. Evidence-based medicine is even more challenging in rural areas, as its remote environment provides additional barriers.

[Difficulties encountered and solutions provided in the implementation of a multidisciplinary intervention for the prevention of dependency in the older population in rural areas: the MINDED study].

Prevent increased number of dependent elderly has become a new priority for European public health. To achieve this, it is necessary to identify the frail older persons at risk of becoming dependent. Detecting frailty also allows to better understand an old patient's physiological reserves before making a therapeutic decision.

Exercise training for managing behavioral and psychological symptoms in people with dementia: A systematic review and meta-analysis.

This systematic review and meta-analysis of randomized controlled trials assessed the effects of exercise on behavioral and psychological symptoms of dementia (BPSD, including depression) in people with dementia (PWD). Secondary outcomes for the effects of exercise were mortality and antipsychotic use. Twenty studies were included in this review (n=18 in the meta-analysis).

Frailty Index and Quality of Life in Nursing Home Residents: Results From INCUR Study.

Background: Frailty is a common clinical syndrome in older adults that carries an increased risk for poor health outcomes. The aim of this study was to examine the relationship between frailty and health-related Quality of Life (QoL) in older nursing home patients.

Methods: The study sample consisted of 590 patients aged 65 years or older.

Physical Activity and Amyloid-β Brain Levels in Elderly Adults with Intact Cognition and Mild Cognitive Impairment.

Objectives: To examine the associations between amyloid-β brain deposition and physical activity (PA) in elderly adults without dementia and to investigate whether the association has a dose-response relationship.

Design: Cross-sectional study.

Setting: French community-dwelling people.

The Mini Nutritional Assessment-Short Form and mortality in nursing home residents--results from the INCUR study.

Objectives: To examine whether the Mini Nutritional Assessment-Short Form (MNA-SF) score and its individual items are predictors of mortality in a nursing home population.

Design: Prospective, secondary analysis from the Incidence of pNeumonia and related ConseqUences in nursing home Residents (INCUR) study with 1-year follow-up.

Participants: A total of 773 older persons (women 74.

Frailty Index and Mortality in Nursing Home Residents in France: Results From the INCUR Study.

Objective: The objective of this study was to examine whether the capacity of an age-related deficit accumulation index (the so-called Frailty Index [FI] proposed by Rockwood) to predict mortality in a nursing home population.

Design, Setting, And Participants: Data are from a longitudinal cohort study (ie, the Incidence of pNeumonia and related ConseqUences in nursing home Residents [INCUR]) of 773 older persons (74.4% women) living in 13 French nursing homes.

How much exercise are older adults living in nursing homes doing in daily life? A cross-sectional study.

Information on the amount of exercise practised by nursing home (NH) residents is scarce. This study aimed at describing NH residents' participation in exercise classes, as well as to examine whether the presence of a professional exercise instructor in the facilities is associated with residents' exercise habits. The cross-sectional data of 5402 residents (median age = 88 years; mostly women (75.

A self-reported screening tool for detecting community-dwelling older persons with frailty syndrome in the absence of mobility disability: the FiND questionnaire.

Background: The "frailty syndrome" (a geriatric multidimensional condition characterized by decreased reserve and diminished resistance to stressors) represents a promising target of preventive interventions against disability in elders. Available screening tools for the identification of frailty in the absence of disability present major limitations. In particular, they have to be administered by a trained assessor, require special equipment, and/or do not discriminate between frail and disabled individuals.

Nutritional status and the incidence of pneumonia in nursing home residents: results from the INCUR study.

Objectives: To examine the predictive value of the Mini Nutritional Assessment-short form (MNA-SF) and its individual items on the incidence of pneumonia.

Design: Prospective observational cohort study over 1-year of follow-up.

Participants: A total of 773 older persons (74.

The Multidomain Intervention to preveNt disability in ElDers (MINDED) project: rationale and study design of a pilot study.

Disability is hardly reversible at old age, negatively impacts on the elders' quality of life, and significantly threatens the sustainability of public health services. Therefore, preventive interventions become necessary for successfully avoiding its onset. The translation of the successful clinical approach represented by the geriatric comprehensive assessment at the community-level and the specific targeting of frailty (a well-established geriatric syndrome) might represent a promising possibility.

Energy-related optimal control accounts for gravitational load: comparing shoulder, elbow, and wrist rotations.

We permanently deal with gravity force. Experimental evidences revealed that moving against gravity strongly differs from moving along the gravity vector. This directional asymmetry has been attributed to an optimal planning process that optimizes gravity force effects to minimize energy.

Incidence and economical effects of pneumonia in the older population living in French nursing homes: design and methods of the INCUR study.

Background: Among the most burdensome clinical conditions occurring in older persons, respiratory infections are particularly relevant. In fact, the onset of pneumonias is associated with a significant worsening of the individual's global health status and significant increase of healthcare costs. The clinical and economical negative consequences of pneumonia may be particularly evident among the frailest groups of elders, in particular those living in nursing home.

Frailty Detection with the Gérontopôle Frailty Screening Tool (GFST).

Frailty is commonly regarded as a pre-disability condition of older persons. Its importance in the elderly should be more carefully taken into account in the clinical practice. To implement interventions aimed at preventing disability in frail older adults, screening tools for the early detection of this syndrome are needed.

Visual gravity influences arm movement planning.

When submitted to a visuomotor rotation, subjects show rapid adaptation of visually guided arm reaching movements, indicated by a progressive reduction in reaching errors. In this study, we wanted to make a step forward by investigating to what extent this adaptation also implies changes into the motor plan. Up to now, classical visuomotor rotation paradigms have been performed on the horizontal plane, where the reaching motor plan in general requires the same kinematics (i.

Prevalence of Frailty and Mobility Limitation in a Rural Setting in France.

Background: The prevalence of frailty is variable according to the adopted operational definition, the tested population, and the setting where it is explored.

Objective: To estimate the prevalence of frailty and mobility disability in community-dwelling persons aged 60 years and older.

Design: Cross-sectional analyses.

Action representation in patients with bilateral vestibular impairments.

During mental actions subjects feel themselves performing a movement without any corresponding motor output. Although broad information is available regarding the influence of central lesions on action representation, little is known about how peripheral damages affect mental events. In the current study, we investigated whether lack of vestibular information influences action representation.

Muscle fatigue affects mental simulation of action.

Several studies suggest that when subjects mentally rehearse or execute a familiar action, they engage similar neural and cognitive operations. Here, we examined whether muscle fatigue could influence mental movements. Participants mentally and actually performed a sequence of vertical arm movements (rotation around the shoulder joint) before and after a fatiguing exercise involving the right arm.