scholarly journals Functional abilities in children and adults with the CDKL5 disorder

2016 ◽  
Vol 170 (11) ◽  
pp. 2860-2869 ◽  
Author(s):  
Stephanie Fehr ◽  
Jenny Downs ◽  
Gladys Ho ◽  
Nick de Klerk ◽  
David Forbes ◽  
...  
Keyword(s):  
Functional Abilities ◽  
Cdkl5 Disorder

scholarly journals Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Neurology ◽  
2016 ◽  
Vol 87 (21) ◽  
pp. 2206-2213 ◽  
Author(s):  
Stephanie Fehr ◽  
Kingsley Wong ◽  
Richard Chin ◽  
Simon Williams ◽  
Nick de Klerk ◽  
...  
Keyword(s):  
Functional Abilities ◽  
Cdkl5 Disorder

scholarly journals Prevalence of obesity and diabetes in older people with sarcopenia defined according to EWGSOP2 and FNHI criteria

2021 ◽  
Author(s):  
Francesca Remelli ◽  
Elisa Maietti ◽  
Pasquale Abete ◽  
Giuseppe Bellelli ◽  
Mario Bo ◽  
...  
Keyword(s):  
Demographic Data ◽  
Study Data ◽  
Pharmacological Therapy ◽  
Cognitive Status ◽  
Sarcopenic Obesity ◽  
Diabetic Patients ◽  
Functional Abilities ◽  
Prevalence Data ◽  
Obesity And Diabetes ◽  
Prevalence Of Obesity

Abstract Background Although the prevalence of sarcopenic obesity is increasing, nowadays a universally accepted definition still does not exist. Because, this clinical entity is defined as the combination of obesity and sarcopenia, the diagnosis appears to be strictly linked to criteria used for sarcopenia and the available prevalence data are not uniform. To investigate the prevalence of sarcopenic obesity in older persons according to EWGSOP2 and FNIH criteria. Second, to evaluate the prevalence of diabetes in patients with sarcopenia diagnosed by the two definitions. Methods Observational multicenter study performed in 2014 on older patients admitted to 12 Italian hospitals (GLISTEN Study). Data were collected through standardized questionnaires, which assessed: socio-demographic data, cognitive status, functional abilities, pharmacological therapy, comorbidities, and blood tests. Moreover, muscle mass and strength and physical performance were evaluated. Results Six hundred and ten were included in the analyses. Among sarcopenic patients, the prevalence of sarcopenic obesity was 30.8% with FNIH and 0% with EWGSOP2 criteria. According to EWGSOP2 criteria, 23.7% of sarcopenic and 30.8% of non-sarcopenic patients were affected by diabetes (p = 0.101); otherwise, using FNIH criteria, 36.3% of sarcopenic and 26.9% of non-sarcopenic patients were diabetic (p = 0.030). After adjustment for potential confounders, diabetic patients had a 73% higher probability of being sarcopenic according to FNIH criteria (OR 1.73; 95% CI 1.13–2.64). Conclusions The EWGSOP2 and FNIH sarcopenia criteria are differently related to the prevalence of obesity and diabetes. The EWGSOP2 criteria seem to be not suitable to identify people with sarcopenic obesity.

Delays in Manual Reaching Are Associated with Impaired Functional Abilities in Early Dementia Patients

2015 ◽  
Vol 40 (1-2) ◽  
pp. 63-71 ◽  
Author(s):  
Casper de Boer ◽  
Johan J.M. Pel ◽  
Johannes van der Steen ◽  
Francesco Mattace-Raso
Keyword(s):  
Daily Living ◽  
Hand Movement ◽  
Hand Tracking ◽  
Functional Abilities ◽  
Dementia Patients ◽  
Early Dementia ◽  
Tracking Devices ◽  
The Impact ◽  
Hand Response

Background/Aims: Recent evidence shows that early dementia patients have deficits in manual reaching tasks. It is important to understand the impact of these functional disabilities on their quality of life. The aim of this study was to investigate if there is an association between manual reaching and measures of (instrumental) activities of daily living (IADL) in a group of patients with cognitive complaints. Methods: The manual reaching performance of 27 patients was assessed in detail with eye and hand tracking devices. Patients were divided into three groups based on self-reported loss of IADL function. Parameters describing hand response and movement times were compared between groups. Results: Patients with loss of IADL function in ≥1 domain had delayed hand response and hand movement times towards visible targets compared to patients with no loss of IADL function. Conclusion: Delays in manual reaching movements are related to the degree of loss of IADL function in early dementia patients.

scholarly journals Postural Stability and Proprioception Abnormalities in Patients with Knee Osteoarthritis

2021 ◽  
Vol 11 (4) ◽  
pp. 1469
Author(s):  
Luciana Labanca ◽  
Giuseppe Barone ◽  
Stefano Zaffagnini ◽  
Laura Bragonzoni ◽  
Maria Grazia Benedetti
Keyword(s):  
Knee Osteoarthritis ◽  
Postural Stability ◽  
Functional Performance ◽  
Functional Score ◽  
Functional Abilities ◽  
Knee Score ◽  
Knee Oa ◽  
Risk Of Falls ◽  
Ongoing Assessment ◽  
And Training

Knee osteoarthritis (OA) leads to the damage of all joint components, with consequent proprioceptive impairment leading to a decline in balance and an increase in the risk of falls. This study was aimed at assessing postural stability and proprioception in patients with knee OA, and the relation between the impairment in postural stability and proprioception with the severity of OA and functional performance. Thirty-eight patients with knee OA were recruited. OA severity was classified with the Kellgren–Lawrence score. Postural stability and proprioception were assessed in double- and single-limb stance, in open- and closed-eyes with an instrumented device. Functional performance was assessed using the Knee Score Society (KSS) and the Short Performance Physical Battery (SPPB). Relationships between variables were analyzed. Postural stability was reduced with respect to reference values in double-limb stance tests in all knee OA patients, while in single-stance only in females. Radiological OA severity, KSS-Functional score and SPPB were correlated with greater postural stability impairments in single-stance. Knee OA patients show decreased functional abilities and postural stability impairments. Proprioception seems to be impaired mostly in females. In conclusion, clinical management of patients with OA should include an ongoing assessment and training of proprioception and postural stability during rehabilitation.

scholarly journals Telomeric and Sub-Telomeric Structure and Implications in Fungal Opportunistic Pathogens

2021 ◽  
Vol 9 (7) ◽  
pp. 1405
Author(s):  
Raffaella Diotti ◽  
Michelle Esposito ◽  
Chang Hui Shen
Keyword(s):  
Fungal Pathogens ◽  
Functional Abilities ◽  
Opportunistic Pathogens ◽  
Telomeric Sequences ◽  
Coding Regions ◽  
Telomeric Structure ◽  
Linear Chromosomes ◽  
Dna Ends ◽  
Telomere Structure

Telomeres are long non-coding regions found at the ends of eukaryotic linear chromosomes. Although they have traditionally been associated with the protection of linear DNA ends to avoid gene losses during each round of DNA replication, recent studies have demonstrated that the role of these sequences and their adjacent regions go beyond just protecting chromosomal ends. Regions nearby to telomeric sequences have now been identified as having increased variability in the form of duplications and rearrangements that result in new functional abilities and biodiversity. Furthermore, unique fungal telomeric and chromatin structures have now extended clinical capabilities and understanding of pathogenicity levels. In this review, telomere structure, as well as functional implications, will be examined in opportunistic fungal pathogens, including Aspergillus fumigatus, Candida albicans, Candida glabrata, and Pneumocystis jirovecii.

scholarly journals Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tina Duong ◽  
Jessica Braid ◽  
Hannah Staunton ◽  
Aurelie Barriere ◽  
Fani Petridis ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Online Survey ◽  
Muscular Atrophy ◽  
Qualitative Interviews ◽  
Functional Abilities ◽  
Type 3 ◽  
The Relationship ◽  
Function Measure

Abstract Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-part study explored the relationship between the functional abilities assessed in the MFM32 and activities of daily living (ADLs) from the perspective of individuals with Type 2 and Type 3 (non-ambulant and ambulant) SMA and their caregivers through qualitative interviews and a quantitative online survey. Methods In-depth, semi-structured, qualitative interviews were conducted with individuals with SMA and caregivers from the US. Subsequently, a quantitative online survey was completed by individuals with SMA or their caregivers from France, Germany, Italy, Poland, Spain, Canada, the United States (US) and the UK. In both parts of the study, participants were asked to describe the ADLs considered to be related to the functional abilities assessed in the MFM32. Results from the qualitative interviews informed the content of the quantitative online survey. Results Qualitative interviews were conducted with 15 adult participants, and 217 participants completed the quantitative online survey. From the qualitative interviews, all of the functional abilities assessed in the patient-friendly MFM32 were deemed as related to one or more ADL. The specific ADLs that participants considered related to the patient-friendly MFM32 items could be grouped into 10 key ADL domains: dressing, mobility/transferring, self-care, self-feeding, reaching, picking up and holding objects, physical activity, writing and technology use, social contact/engagement, toileting and performing work/school activities. These results were confirmed by the quantitative online survey whereby the ADLs reported to be related to each patient-friendly MFM32 item were consistent and could be grouped into the same 10 ADL domains. Conclusion This study provides in-depth evidence from the patient/caregiver perspective supporting the relevance of the patient-friendly MFM32 items to the ADLs of individuals with Type 2 and Type 3 SMA.

Individual and Family Correlates of Community Living Options Among Adults With Intellectual and Developmental Disabilities

Inclusion ◽  
2017 ◽  
Vol 5 (4) ◽  
pp. 279-292 ◽  
Author(s):  
Meghan M. Burke ◽  
Chung eun Lee ◽  
Moon Y. Chung ◽  
Kristina Rios ◽  
Catherine K. Arnold ◽  
...  
Keyword(s):  
Developmental Disabilities ◽  
Independent Living ◽  
Group Homes ◽  
Community Living ◽  
Intellectual And Developmental Disabilities ◽  
Functional Abilities ◽  
Future Planning ◽  
Adults With Disabilities ◽  
The Family ◽  
Family Home

Abstract With recent policy changes and case-law decisions, there are more opportunities for adults with intellectual and developmental disabilities (IDD) to live independently in inclusive settings. It is necessary to identify malleable correlates of community living options to develop interventions to increase inclusive, independent living. To this end, 546 parents and siblings of adults with IDD responded to a national survey. According to parent and sibling report, adults with IDD were more likely to live outside of the family home when the family engaged in future planning, the individual had more informal supports and more functional abilities and had parents with fewer caregiving abilities. Among the 187 adults with IDD who lived outside of the family home, individuals with more problem behaviors and fewer functional abilities were more likely to live in larger group homes (versus independently with or without supports). Further, when the family engaged in more future planning activities, adults with disabilities were more likely to live in a group home (versus independently). When parents had fewer caregiving abilities, adults with disabilities were more likely to live in bigger group homes (versus independently). Implications for policymakers, practitioners, and research are discussed.

scholarly journals POS0016 THE EVALUATION OF FUNCTIONAL ABILITIES OF PATIENTS WITH OSTEOPOROTIC VERTEBRAL FRACTURES AS A BASIS FOR REHABILITATION PROGRAMS DEVELOPING

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 209.2-210
Author(s):  
L. Marchenkova ◽  
V. Vasileva ◽  
M. Eryomushkin
Keyword(s):  
Muscle Strength ◽  
Vertebral Fractures ◽  
Trunk Muscles ◽  
Control Group ◽  
Study Group ◽  
Primary Osteoporosis ◽  
X Rays ◽  
Functional Abilities ◽  
Rehabilitation Programs ◽  
Osteoporotic Vertebral Fractures

Background:Due to the demand for special rehabilitation programs for patients with osteoporotic vertebral fractures (VFs), it is of interest to study the functional abilities of those patients. The scientific hypothesis suggests that osteoporotic VFs would cause muscle weakness, muscle dysfunction and conditional disturbances.Objectives:to estimate muscle strength, motor function and coordination disorders in patients with VFs in the setting of systemic osteoporosis as a basis for rehabilitation programs developing.Methods:120 patients aged 43−80 with primary osteoporosis were enrolled. Study group comprised of 60 subjects (56 women, 4 men) with at least 1 VF confirmed by X-rays. Control group included 60 subjects (56 women, 4 men) with osteoporosis but without any osteoporotic fracture. The examination program included back muscles tenzodynamometry, balance tests and stabilometry.Results:Muscle strength deficiency was estimated in study group in trunk flexors (TF) — 40.9% and in trunk extensors (TE) — 18.1% with an adequate function of the left lateral flexors (LLF) and in right lateral flexors (RLF). Patients with VFs had the lower muscle strength vs controls of TE (15.64±9.8 vs 27.73±9.9 kg, p=0.00002), TF (14.61±8.98 vs 21.28±8.38 kg, p=0.0006), LLF (13.10±7.2 vs 24.06±8.9 kg, p=0.005) and RLF 13.44±7.43 vs 24.26±7.65 kg, p=0.0003). Patients with VFs lose their balance faster during one-leg-standing test with open eyes (5.0 [1.0; 10.0] vs 7.5 [5.0; 10.5] sec in control group, p=0.03) and with closed eyes (2.0 [0; 3.0] vs 3.5 [3.0; 5.0] sec, p=0.04). Fukuda-Unterberger test showed greater side dislocation in study group — 40° [25; 45] vs controls 30° [10; 45], (p=0.02). According to stabilometry study group was characterized vs control group by lower balance coefficient with open eyes (77.2±7.6 vs 85.7±9.4%, p=0.002) and with closed eyes (67.1±9.8 vs 73.4±9.9%, p=0.03), greater sagittal displacement (6.8 [2.1; 37.7] vs 4.8 [1.8; 10.7] mm, p=0.025) and deviation in the saggital plane (1.2 [-1.07; 1.5] vs -1.2 [-1.5; 1.2] mm, p=0.01), and also less pressure center velocity (9.51±4.4 vs 7.1±2.7 mm/sec, р=0.009).Conclusion:Osteoporotic VFs are associated with reduction of trunk muscles strength and negatively affect static and dynamic balance function that should be taken into account when developing rehabilitation programs for these patients.Disclosure of Interests:None declared.

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