scholarly journals Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

2021 ◽  
Author(s):  
Fabio Pettinato ◽  
Giovanni Mostile ◽  
Roberta Battini ◽  
Diego Martinelli ◽  
Annalisa Madeo ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Activities Of Daily Living ◽  
Functional Outcome ◽  
Daily Living ◽  
Functional Disability ◽  
Rating Scale ◽  
Cerebellar Atrophy ◽  
Multivariate Regression Analysis ◽  
Disability Score ◽  
Severe Intellectual Disability

AbstractWe aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity (Nijmegen CDG rating scale, NCRS). MRI biometry of the cerebellum and the brainstem were performed in 23 patients (11 males; aged 5 months–18 years) and 19 control subjects with equal gender and age distributions. The average total ADL score was 15.3 ± 8.5 (range 3–32 out of 36 indicating severe functional disability), representing variable functional outcome in PMM2-CDG patients. Total ADL scores were significantly correlated with NCRS (r2 = 0.55, p < 0.001) and BARS scores (r2 = 0.764; p < 0.001). Severe intellectual disability, peripheral neuropathy, and severe PMM2 variants were all significantly associated with worse functional outcome. Higher ADL scores were significantly associated with decreased diameters of cerebellar vermis (r2 = 0.347; p = 0.004), hemispheres (r2 = 0.436; p = 0.005), and brainstem, particularly the mid-pons (r2 = 0.64; p < 0.001) representing the major radiological predictor of functional disability score in multivariate regression analysis. We show that cerebellar syndrome severity, cognitive level, peripheral neuropathy, and genotype correlate with ADL used to quantify disease-related deficits in PMM2-CDG. Brainstem involvement should be regarded among functional outcome predictors in patients with cerebellar atrophy caused by PMM2-CDG.

Abstract 10: Neuroendocrine Dysfunction and Functional Disability Following Stroke

Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Lisa A Kreber ◽  
Charan K Singh
Keyword(s):  
Growth Hormone ◽  
Ischemic Stroke ◽  
Activities Of Daily Living ◽  
Daily Living ◽  
Independent Living ◽  
Functional Disability ◽  
Rating Scale ◽  
Hormone Deficiency ◽  
Stroke Patients ◽  
Disability Rating Scale

Comprehensive studies of the incidence of neuroendocrine dysfunction following stroke are lacking. The objectives of this study were to determine the incidence of neuroendocrine dysfunction in patients with stroke and to determine if growth hormone deficiency (GHD) contributes to disability following stroke. Hormones were assessed in 130 patients with stroke (ischemic: n=65; hemorrhagic: n=65; M time since stroke=155 days; men=81; M age = 52). TSH, T3, T4, follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, cortisol, and insulin-like growth factor-1 were assessed. All patients underwent glucagon stimulation testing (GST) to assess growth hormone (GH). Patients were then classified as having severe GHD, moderate GHD or normal GH based on the results of the GST. Functional disability was assessed with the Disability Rating Scale, Independent Living Scale (ILS), and the Mayo-Portland Adaptability Inventory-IV. The majority of stroke patients had GHD (30% severe; 29% moderate). Patients with ischemic stroke had a higher prevalence of GHD (34% severe; 33% moderate) compared to patients with hemorrhagic stroke (26% severe; 23% moderate). The severe GHD group had significantly lower levels of FSH than the moderate GHD and normal GH groups (p<0.01). The moderate GHD group had significantly lower levels of LH than the severe GHD and normal GH groups (p<0.05) and significantly lower levels of T3 than the severe GHD and normal GH groups (p<0.05). The severe GHD group performed worse on the Activities of Daily Living and Behavior subscales of the ILS than the moderate GHD and normal GH groups (p<0.05). GHD was more prevalent in patients with ischemic stroke, indicating that type of stroke may influence neuroendocrine functioning. Additionally, FSH, LH and T3 were lower in patients with GHD than in patients with normal levels of GH. The implications of these findings suggest that routine, comprehensive neuroendocrine testing may be warranted in individuals who have sustained a stroke. Patients with GHD were more functionally disabled in their ability to perform activities of daily living and to engage in socially appropriate behavior. These findings suggest that hormone deficiencies can influence disability post-stroke.

Social isolation, loneliness and functional disability in Chinese older women and men: a longitudinal study

2020 ◽  
Author(s):  
Lizhi Guo ◽  
Li An ◽  
Fengping Luo ◽  
Bin Yu
Keyword(s):  
Longitudinal Study ◽  
Activities Of Daily Living ◽  
Functional Status ◽  
Social Isolation ◽  
Daily Living ◽  
Functional Disability ◽  
Iadl Disability ◽  
Older Populations ◽  
New Onset

Abstract Objective This study investigated whether loneliness or social isolation is associated with the onset of functional disability over 4 years among Chinese older populations. Setting and Subjects This study used data from the China Health and Retirement Longitudinal Study (CHARLS). Functional status was assessed by activities of daily living (ADL) and instrumental activities of daily living (IADL). Analyses were conducted with data from two waves (2011 and 2015) and were restricted to those respondents aged 50 and older and free of functional disability at baseline [n = 5,154, mean age (SD) = 60.72 (7.51); male, 52.3%]. Method Social isolation, loneliness and covariates were measured at baseline. Follow-up measures of new-onset ADL and IADL disability were obtained 4 years later. We stratified the sample by gender, and then used binary logistic regressions to evaluate the associations between baseline isolation, loneliness and new-onset ADL and IADL disability. Results For women, baseline social isolation was significantly associated with new-onset ADL (OR = 1.18, 95% CI = 1.07–1.30) and IADL (OR = 1.11, 95% CI = 1.01–1.21) disability; no significant association between loneliness and ADL or IADL disability was found. For men, neither social isolation nor loneliness was found to be significantly associated with ADL or IADL disability. Conclusion This longitudinal study found that social isolation, rather than loneliness, was significantly associated with functional disability over 4 years among women (but not men) in China. These findings expand our knowledge about the association between social relationships and functional status among non-Western populations.

scholarly journals A Qualitative Study on Coping Strategies Among Patients with Non-Specific Low-Back Pain

2020 ◽  
Vol 7 (3) ◽  
Author(s):  
Adesola Ojo Ojoawo ◽  
Taiwo Oluwaseun Arasanmi ◽  
Chidozie Emmanuel Mbada
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Activities Of Daily Living ◽  
Coping Strategies ◽  
Daily Living ◽  
Rating Scale ◽  
Low Back ◽  
Religious Activities ◽  
Work Related ◽  
And Coping

Background: Non-specific low-back pain (NSLBP) is a common health problem worldwide, but the perception and coping strategies used by patients are underreported. Objectives: The objectives of the study were to evaluate the perception of patients with NSLBP, the ways the pain interrfered with their basic life, and coping strategies employed by them. Methods: Twenty patients consisting of 10 males (50%) and 10 females (50%) participated in this study. A qualitative interview was conducted using a three-section modified structured interview guide by Gwenda. Section A contained sociodemographic information, section B was the numerical pain rating scale, and section C asked questions about the pain duration, the ways of pain interference with the patient’s life, and strategies used to cope with pain. The data were analyzed using thematic content analysis. Results: The results showed that 50% of the patients were within the age range of 58 years or above. Ten (50%) patients perceived that NSLBP was caused by work-related activities and 10% perceived that NSLBP was a spiritual problem. Fifty percent reported that the pain interfered with their activities of daily living, and four (20%) mentioned that NSLBP interfered with their sexual function and religious activities. Concerning the coping strategy, 40% used prayer, 15% usually ignored the pain, and 35% used the conventional approach. Conclusions: It can be concluded that half of the patients with NSLBP perceived NSLBP to be caused by work-related activities. Besides, NSLBP interfered with basic activities of daily living, and about 40% were coping with NSLBP with prayer and spiritual means.

scholarly journals Socio-economic inequality in functional disability and impairments with focus on Instrumental Activity of Daily Living: A Study on Older Adults in India

2021 ◽  
Author(s):  
Ratna Patel ◽  
Shobhit Srivast ◽  
Pradeep Kumar ◽  
SHEKHAR CHAUHAN ◽  
Mani Deep Govindu ◽  
...  
Keyword(s):  
Older Adults ◽  
Activities Of Daily Living ◽  
Daily Living ◽  
Functional Disability ◽  
Population Aging ◽  
Economic Inequality ◽  
National Level ◽  
Memory Loss ◽  
Decomposition Analysis ◽  
The Government

Abstract Background Studies have examined functional disability among older adults by combining Activities of Daily Living (ADL) and Instrumental Activities of Daily Living (IADL). This study adds another dimension to ADL and IADL by combining various impairments such as hearing, vision, walking, chewing, speaking, and memory loss among older adults. This study examines functional disability among older adults in India as measured by ADL, IADL, along with various impairments. Methods This study utilized data from Building a Knowledge Base on Population Aging in India (BKPAI), a national-level survey and conducted across seven states of India. The study utilized three outcome variables, namely, ADL, IADL, and Impairments. Descriptive and bivariate analyses were used along with multivariate analysis to fulfill the objectives of the study. The concentration index was calculated for ADL, IADL, and impairments, and further, decomposition analysis was carried out for IADL. Results The results observed that nearly 7.5 percent of older adults reported ADL, more than half (56.8%) reported IADL, and nearly three-fourths (72.6%) reported impairments. Overall, ADL, IADL, and impairments were higher among older adults aged 80 + years, older adults with poor self-rated health, and those suffering from chronic diseases. Educational status and wealth explained most of the socio-economic inequality in the prevalence of IADL among older adults. Conclusion It is recommended that the government advise older adults to adopt health-promoting approaches, which may be useful. Further, there is a pressing need to deliver quality care to older adults suffering from chronic conditions.

Potential associated factors of functional disability in Chinese older inpatients: A multicenter cross-sectional study

2020 ◽  
Author(s):  
Hongpeng Liu ◽  
Jing Jiao ◽  
Chen Zhu ◽  
Minglei Zhu ◽  
Xianxiu Wen ◽  
...  
Keyword(s):  
Older Adults ◽  
Activities Of Daily Living ◽  
Daily Living ◽  
Functional Disability ◽  
Age Groups ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Older Inpatients ◽  
Hospital Wards

Abstract Background: Older adults are vulnerable to a decline in physical functioning, including basic activities of daily living (ADL) and higher-level instrumental activities of daily living (IADL). The causes of functional disability in older adults are multifactorial. A comprehensive understanding of these factors will contribute toward future health service planning. However, studies of ADL and IADL in Chinese older adults are insufficient. The aim of this study is to describe the level of ADL and IADL in different age groups and explore the factors associated with functional disability in Chinese older inpatients. Methods: We conducted a cross-sectional study consisted of 9,996 Chinese older inpatients aged 65 years and older. Participants were recruited from six provinces or municipality city in southwest (Sichuan province), northeast (Heilongjiang), south central (Hubei province), northern (Beijing municipality city), northwest (Qinghai province), and eastern China (Zhejiang province) from October 2018 to February 2019. The levels of ADL and IADL were measured by scores of the Barthel index and Instrumental Activities of Daily Living Scale in consecutive intervals from 65 years of age. After controlling for the cluster effect of hospital wards, a mixed-effect generalized linear model was used to examine the association between functional disability and covariates. Results: The average ADL score was 27.68±4.59 and the mean IADL score 6.76±2.01 for all participants. A negative correlation between scores and age was observed, and there was a significant difference in ADL and IADL scores among different age groups. The top negatively influential factor in ADL and IADL was stair climbing and shopping, respectively. After controlling for the cluster effect of hospital wards, aging, emaciation, frailty, depression, falling accidents in past 12 months, hearing dysfunction, cognitive dysfunction, urinary dysfunction, and defecation dysfunction were associated with ADL and IADL. Patients transitioned from the emergency department and other hospitals were also affected by ADL disability. Former smoking was associated with lower IADL scores. Higher level of education, living in a building without elevators, and current alcohol consumption were correlated with better IADL performance. Conclusion: Decreased functional ability was associated with the increasing age. Sociodemographic characteristics (such as age), physical health variables (frailty, emaciation, hearing dysfunction, urinary dysfunction, defecation dysfunction, falling accidents in past 12 months), and mental health variables (cognitive dysfunction, depression) were associated with functional disability. These findings potentially have major importance for the planning of hospital services, discharge planning, and post-discharge care.

scholarly journals Streamlining the KOOS Activities of Daily Living Subscale Using Machine Learning

2020 ◽  
Vol 8 (3) ◽  
pp. 232596712091044 ◽  
Author(s):  
Ashim Gupta ◽  
Ajish S.R. Potty ◽  
Deepak Ganta ◽  
R. Justin Mistovich ◽  
Sreeram Penna ◽  
...  
Keyword(s):  
Machine Learning ◽  
Activities Of Daily Living ◽  
Functional Outcome ◽  
Acl Reconstruction ◽  
Daily Living ◽  
High Accuracy ◽  
Quality Data ◽  
Specific Patient ◽  
Patient Reported ◽  
Essential Questions

Background: Functional outcome scores provide valuable data, yet they can be burdensome to patients and require significant resources to administer. The Knee injury and Osteoarthritis Outcome Score (KOOS) is a knee-specific patient-reported outcome measure (PROM) and is validated for anterior cruciate ligament (ACL) reconstruction outcomes. The KOOS requires 42 questions in 5 subscales. We utilized a machine learning (ML) algorithm to determine whether the number of questions and the resultant burden to complete the survey can be lowered in a subset (activities of daily living; ADL) of KOOS, yet still provide identical data. Hypothesis: Fewer questions than the 17 currently provided are actually needed to predict KOOS ADL subscale scores with high accuracy. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: Pre- and postoperative patient-reported KOOS ADL scores were obtained from the Surgical Outcome System (SOS) data registry for patients who had ACL reconstruction. Categorical Boosting (CatBoost) ML models were built to analyze each question and its value in predicting the patient’s actual functional outcome (ie, KOOS ADL score). A streamlined set of minimal essential questions were then identified. Results: The SOS registry contained 6185 patients who underwent ACL reconstruction. A total of 2525 patients between the age of 16 and 50 years had completed KOOS ADL scores presurgically and 3 months postoperatively. The data set consisted of 51.84% male patients and 48.16% female patients, with a mean age of 29 years. The CatBoost model predicted KOOS ADL scores with high accuracy when only 6 questions were asked ( R2 = 0.95), similar to when all 17 questions of the subscale were asked ( R2 = 0.99). Conclusion: ML algorithms successfully identified the essential questions in the KOOS ADL questionnaire. Only 35% (6/17) of KOOS ADL questions (descending stairs, ascending stairs, standing, walking on flat surface, putting on socks/stockings, and getting on/off toilet) are needed to predict KOOS ADL scores with high accuracy after ACL reconstruction. ML can be utilized successfully to streamline the burden of patient data collection. This, in turn, can potentially lead to improved patient reporting, increased compliance, and increased utilization of PROMs while still providing quality data.

scholarly journals Associations Between Amantadine Usage, Gait, and Cognition in PSP: A post-hoc Analysis of the Davunetide Trial

2020 ◽  
Vol 11 ◽  
Author(s):  
Marian L. Dale ◽  
Barbara H. Brumbach ◽  
Adam L. Boxer ◽  
Amie L. Hiller
Keyword(s):  
Activities Of Daily Living ◽  
Daily Living ◽  
Rating Scale ◽  
Change Score ◽  
Categorical Variables ◽  
Continuous Variables ◽  
Group Status ◽  
Chi Square ◽  
Neuropsychological Status ◽  
Post Hoc

Introduction: Amantadine anecdotally improves gait in progressive supranuclear palsy (PSP) but definitive data is lacking. We investigated associations between amantadine usage, gait, cognition, and activities of daily living in 310 subjects with PSP using data from the davunetide trial.Method: We compared baseline demographics, PSP Rating Scale (PSPRS), Repeat Battery for the Assessment of Neuropsychological Status (RBANS), and Schwab and England Activities of Daily Living (SEADL) scores between subjects taking vs. not taking amantadine using chi-square tests for categorical variables and independent sample t-tests for continuous variables. Using the general linear model (GLM), we tested whether group status predicted total PSPRS, PSPRS-gait and midline, total RBANS, RBANS-attention, and SEADL before and after the 52-weeks follow-up.Results: Subjects taking vs. not taking amantadine were similar at baseline, except subjects taking amantadine had a higher Clinical Global Impression (CGI) Score (p = 0.01). However, the CGI change score did not differ between groups at week 52 (p = 0.10). Using GLM models (controlling for covariates), we found that subjects taking vs. not taking amantadine did not significantly predict total PSPRS, PSPRS-gait and midline, total RBANS, RBANS-attention, or SEADL at baseline, week 52, or the change score between baseline and week 52.Discussion: This post-hoc analysis of the davunetide trial did not find an association between amantadine and gait or cognitive measures in PSP, but was not powered to find such a difference. Future studies should still examine amantadine for symptomatic benefit in multiple PSP subtypes.

Self-Efficacy, Pain Intensity, Rheumatic Disease Duration, and Hand Functional Disability on Activities of Daily Living

2020 ◽  
Vol 69 (6) ◽  
pp. E208-E216
Author(s):  
Estefanía Rodríguez-García ◽  
Samuel Barnes-Ortiz ◽  
José Manuel Pérez-Mármol
Keyword(s):  
Rheumatic Disease ◽  
Activities Of Daily Living ◽  
Pain Intensity ◽  
Self Efficacy ◽  
Daily Living ◽  
Functional Disability ◽  
Disease Duration

scholarly journals Apathy and functional disability in behavioral variant frontotemporal dementia

2018 ◽  
Vol 8 (2) ◽  
pp. 120-128 ◽  
Author(s):  
Mônica S. Yassuda ◽  
Thais B. Lima da Silva ◽  
Claire M. O'Connor ◽  
Shailaja Mekala ◽  
Suvarna Alladi ◽  
...  
Keyword(s):  
Activities Of Daily Living ◽  
Frontotemporal Dementia ◽  
Functional Impairment ◽  
Cognitive Deficits ◽  
Daily Living ◽  
Functional Disability ◽  
Motor Behavior ◽  
Regression Analyses ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Everyday Function

BackgroundBehavioral variant frontotemporal dementia (bvFTD) has profound consequences on patients and their families. In this multicenter study, we investigated the contribution of cognitive and neuropsychiatric factors to everyday function at different levels of overall functional impairment.MethodsIn a retrospective cross-sectional study, 109 patients with bvFTD from 4 specialist frontotemporal dementia centers (Australia, England, India, and Brazil) were included. The measures administered evaluated everyday function (Disability Assessment for Dementia [DAD]), dementia staging (Clinical Dementia Rating [CDR]), general cognition (Addenbrooke's Cognitive Examination–revised [ACE-R]), and neuropsychiatric symptoms (Neuropsychiatric Inventory [NPI]). Patients were then subdivided according to functional impairment on the DAD into mild, moderate, severe, and very severe subgroups. Three separate multiple linear regression analyses were run, where (1) total DAD, (2) basic activities of daily living (BADL), and (3) instrumental activities of daily living (IADL) scores were dependent variables; ACE-R total score and selected NPI domains (agitation/aggression, euphoria, apathy, disinhibition, irritability, aberrant motor behavior) were used as independent variables. Age, sex, education, and country of origin were controlled for in the analyses.ResultsCognitive deficits were similar across the mild, moderate, and severe subgroups but significantly worse in the very severe subgroup. NPI domain scores (agitation/aggression, euphoria, apathy, disinhibition, irritability, aberrant motor behavior) did not differ across the DAD subgroups. In the multiple regression analyses, a model including ACE-R and NPI apathy explained 32.5% of the variance for total DAD scores. For IADL, 35.6% of the variance was explained by the ACE-R only. No model emerged for BADL scores.ConclusionsCognitive deficits and apathy are key contributors to functional disability in bvFTD but factors underlying impairment in BADLs remain unclear. Treatments targeting reduction of disability need to address apathy and cognitive impairment to ensure greater efficacy, especially in regards to IADLs.

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