Repetitive Behavior in Rubinstein–Taybi Syndrome:Parallels with Autism Spectrum Phenomenology

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS

What do geriatric rehabilitation patients and experts consider relevant? Requirements for a digitalised e-coach for sustainable improvement of nutrition and physical activity in older adults – a qualitative focus group study

Background!#!During geriatric rehabilitation, attempts are made to increase the patients' health and functional capacity. In order to maintain these improvements in the medium- and long-term, behavioural changes regarding mobility and nutrition are also targeted, but these are often not sustainable. International studies show positive effects on the sustainability of the improvement of physical activity behaviour in healthy seniors through the use of electronic devices and software applications. Comparable approaches that include nutrition topics or combine them and were additionally developed for geriatric rehabilitation patients (≥70 years) to date are not known. The aim of this study was to identify what geriatric rehabilitation patients require from an electronic coaching system (e-coach) to support them in improving their nutritional and physical activity behaviour, and what content and features physiotherapists and dieticians consider relevant.!##!Method!#!Focus group interviews (09-11/2019) were conducted in a geriatric rehabilitation centre in Germany with patients aged 70 years and older, relatives and experts (physiotherapists and nutritionists). The focus groups were recorded, transcribed verbatim and analysed using content analysis.!##!Results!#!Three focus groups with patients and relatives (n = 17, 65% female, 16 (94%) in age category 70-99 years) and one focus group with experts (2 dieticians and 1 physiotherapist) were conducted. Relevant contents and feedback elements for nutrition and physical activity in old age were identified. The patients' comments show that an e-coach must offer obvious benefits for the older persons and promote motivation in order to be used. The willingness to change nutrition and physical activity behaviour and the previous experiences in these areas are very heterogeneous, therefore content should be adaptable to different requirements.!##!Conclusion!#!Experts and patients identified quite similar contents, barriers and facilitators for a nutrition and physical activity e-coach. The e-coach needs to be able to address different points of behaviour change, enable adaptations to the individual patient and convince the older person that using it will help them to improve their nutrition and physical activity. It is also important that the e-coach is easy to use and can be easily integrated into the patient's everyday life after rehabilitation

Physical therapy for patients with low back pain in Germany: a survey of current practice

Abstract Background Low back pain (LBP) is one of the most common musculoskeletal disorders worldwide. The National Disease Management Guideline (NVL) “Non-specific LBP” is a practical decision-making aid for both physicians and non-medical professionals in Germany to improve quality of health care. Although LBP is the most frequent diagnosis resulting in physical therapy treatment, information on the current management of patients with LBP and guideline adherence is limited. The objective of this study was to evaluate the current physical therapy management of patients with LBP in Germany, and to explore guideline adherence to the NVL “Non-specific LBP” recommendations. Methods An online survey among physical therapists working in Germany was conducted based on the recommendations given in the NVL “Non-specific LBP”. Participants were recruited using a snowball sampling approach and invited to complete the questionnaire. Guideline adherence was evaluated by comparing the survey findings with the recommendations of the NVL. Results In total, 1361 physical therapists (41 years of age (SD 11); 839 female, 514 male; 16 years of clinical experience (SD 10)) completed the survey. Fifty percent (n = 675) of our respondents adhered to the recommendations of the NVL on the therapeutic diagnostic process, and 72% (n = 973) to the recommendations concerning treatment. The guideline adherence across the entire management process (i.e., both diagnosis and treatment) of LBP was 38% (n = 513). German physical therapists predominantly provide active interventions, e.g., exercise therapy, but also use interventions with low or conflicting evidence, respectively. Massage and Kinesio Taping were frequently used despite being not recommended. Less than one third of study participants (n = 400, 29%) answered to know the NVL or had dealt with its recommendations. Conclusions In the management of LBP, overall guideline adherence among German physical therapists was 38% with higher adherence in the treatment section than in the physical therapeutic diagnostic process. Widespread employment of implementation strategies and removal of existing barriers against the application of evidence-based guidelines could facilitate the transfer of scientific evidence into clinical practice and contribute to optimize the quality of health care. Trial registration German Clinical Trials Register (DRKS00012607). Registered 04 October 2017

Usability and feasibility of a tablet-based e-coach for older adults in rehabilitation units to improve nutrition and physical activity: a prospective pilot study

Abstract Background For older adults (≥ 70 years), it is often challenging to maintain new nutrition and physical activity behaviours learned in rehabilitation. To minimize the risk of negative health consequences when returning home, an e-coach can be helpful. Aligning the program with an established concept such as the Transtheoretical Model of Behaviour Change (TTM) and guidance from healthcare professionals can optimize behaviour change. Objective This prospective single-arm pilot study aimed to assess the usability and feasibility of a nutrition and mobility e-coach for older adults during and after rehabilitation for a period of 9 weeks. In addition, we examined the change in the TTM phase as an indicator of the participant’s readiness to change or the changes made. Methods Older adults (≥ 70 years) with nutrition deficits and/ or mobility limitations were recruited in a rehabilitation centre. Participants’ phases of behaviour change in the TTM were identified by comparing current nutrition and physical activity habits via self-report with age-specific nutrition and physical activity recommendations. They received a tablet with the e-coach containing educational and interactive elements on the topics of nutrition and physical activity in older age. Participants used the e-coach and received support from healthcare professionals. The TTM phases were assessed at five times; the e-coach content was adjusted accordingly. Usability was assessed using the System Usability Scale (SUS, Score range: 0-100). Timestamps were used to evaluate how frequently participants used the e-coach: high (≥ 67% of the days), medium (66 − 33% of the days), and low (< 33% of the days). Results Approximately 140 patients were approached and n = 30 recruited. Complete data sets of n = 21 persons were analysed (38% female, mean age 79.0 ± 6.0 years). The SUS was 78.6 points, 11 participants (42%) were classified as high users, 6 (39%) as medium users and 4 (19%) as low users. After nine weeks, 15 participants (71%) achieved the physical activity recommendations (baseline: 33%, n = 7). Nutrition recommendations were achieved by 14 participants (66%) after nine weeks (baseline: 24%, n = 5). Conclusion The e-coach seems to be usable and feasible for older adults. We identified some optimization potentials for our application that can be transferred to the development of comparable e-health interventions for vulnerable older adults

Machbarkeit und Akzeptanz videobasierter Physiotherapie

Background and objective!#!Restrictions in public life during the COVID-19 pandemic mainly addressed the safety of high-risk older multimorbid patients to protect them from infection. Nevertheless, detrimental aspects of the lockdown for older people are a reduction in physical activity and limited access to physiotherapy, which are likely to have a negative impact on the health status. This study examined the feasibility of video-based physiotherapy (VT) and the subjective rating of VT by patients and therapists.!##!Methods!#!From April to June 2020, 4 facilities with 9 patients (6 women, 64-82 years old) participated in the study and were provided with technical equipment. Semistructured telephone interviews were conducted in eight patients to assess physical activity, functional ability and participation before and during the restrictions. Both patients and therapists were asked about their subjective experiences with VT.!##!Results!#!A total of 92 VT sessions took place. Performance of the exercises and comprehension of instructions were rated as good to very good. The level of acceptance was high. Of the patients four described a perceived reduction in their physical activities due to the public restrictions; however, in the questionnaires no substantial differences in participation and physical activity were found.!##!Discussion!#!The use of VT is feasible in older patients. Only minor technical support is needed. In pandemic situations or in other contexts VT appears to be a promising supplement or alternative to normal physiotherapy. Further studies are needed to identify suitable patient groups, to prove efficacy and to develop further content-related aspects of VT

A safety cap protects hydrogenase from oxygen attack

International audience[FeFe]-hydrogenases are efficient H2-catalysts, yet upon contact with dioxygen their catalytic cofactor (H-cluster) is irreversibly inactivated. Here, we combine X-ray crystallography, rational protein design, direct electrochemistry, and Fourier-transform infrared spectroscopy to describe a protein morphing mechanism that controls the reversible transition between the catalytic Hox-state and the inactive but oxygen-resistant Hinact-state in [FeFe]-hydrogenase CbA5H of Clostridium beijerinckii. The X-ray structure of air-exposed CbA5H reveals that a conserved cysteine residue in the local environment of the active site (H-cluster) directly coordinates the substrate-binding site, providing a safety cap that prevents O2-binding and consequently, cofactor degradation. This protection mechanism depends on three non-conserved amino acids situated approximately 13 Å away from the H-cluster, demonstrating that the 1st coordination sphere chemistry of the H-cluster can be remote-controlled by distant residues

Synthesis and transport of creatine in the CNS: importance for cerebral functions.

J. Neurochem. (2010) 10.1111/j.1471-4159.2010.06935.x Abstract Apart of its well known function of 'energetic buffer' through the creatine/phosphocreatine/creatine kinase system allowing the regeneration of ATP, creatine has been recently suggested as a potential neuromodulator of even true neurotransmitter. Moreover, the recent discovery of primary creatine deficiency syndromes, due to deficiencies in l-arginine : glycine amidinotransferase or guanidinoacetate methyltransferase (the two enzymes allowing creatine synthesis) or in the creatine transporter, has shed new light on creatine synthesis, metabolism and transport, in particular in CNS which appears as the main tissue affected by these creatine deficiencies. Recent data suggest that creatine can cross blood-brain barrier but only with a poor efficiency, and that the brain must ensure parts of its needs in creatine by its own endogenous synthesis. Finally, the recent years have demonstrated the interest to use creatine as a neuroprotective agent in a growing number of neurodegenerative diseases, including Parkinson's and Huntington's diseases. This article aims at reviewing the latest data on creatine metabolism and transport in the brain, in relation to creatine deficiencies and to the potential use of creatine as neuroprotective molecule. Emphasis is also given to the importance of creatine for cerebral function