Neuromechanical Differences between Pronated and Supinated Forearm Positions during Upper-Body Wingate Tests.

Arm-cycling is a versatile exercise modality with applications in both athletic enhancement and rehabilitation, yet the influence of forearm orientation remains understudied. Thus, this study aimed to investigate the impact of forearm position on upper-body arm-cycling Wingate tests. Fourteen adult males (27.3 ± 5.8 years) underwent bilateral assessments of handgrip strength in standing and seated positions, followed by pronated and supinated forward arm-cycling Wingate tests. Electromyography (EMG) was recorded from five upper-extremity muscles, including anterior deltoid, triceps brachii lateral head, biceps brachii, latissimus dorsi, and brachioradialis. Simultaneously, bilateral normal and propulsion forces were measured at the pedal-crank interface. Rate of perceived exertion (RPE), power output, and fatigue index were recorded post-test. The results showed that a pronated forearm position provided significantly (p < 0.05) higher normal and propulsion forces and triceps brachii muscle activation patterns during arm-cycling. No significant difference in RPE was observed between forearm positions (p = 0.17). A positive correlation was found between seated handgrip strength and peak power output during the Wingate test while pronated (dominant: p = 0.01, r = 0.55; non-dominant: p = 0.03, r = 0.49) and supinated (dominant: p = 0.03, r = 0.51; don-dominant: p = 0.04, r = 0.47). Fatigue changed the force and EMG profile during the Wingate test. In conclusion, this study enhances our understanding of forearm position's impact on upper-body Wingate tests. These findings have implications for optimizing training and performance strategies in individuals using arm-cycling for athletic enhancement and rehabilitation.

Two weeks of arm cycling sprint interval training enhances spinal excitability to the biceps brachii.

The present study aimed to investigate whether a 2-wk arm cycling sprint interval training (SIT) program modulated corticospinal pathway excitability in healthy, neurologically intact participants. We employed a pre-post study design with two groups: 1) an experimental SIT group and 2) a nonexercising control group. Transcranial magnetic stimulation (TMS) of the motor cortex and transmastoid electrical stimulation (TMES) of corticospinal axons were used at baseline and post-training to provide indices of corticospinal and spinal excitability, respectively. Stimulus-response curves (SRCs) recorded from the biceps brachii were elicited for each stimulation type during two submaximal arm cycling conditions [25 watts (W) and 30% peak power output (PPO)]. All stimulations were delivered during the mid-elbow flexion phase of cycling. Compared with baseline, performance on the time-to-exhaustion (TTE) test at post-testing was improved for members of the SIT group but was not altered for controls, suggesting that SIT improved exercise performance. There were no changes in the area under the curve (AUC) for TMS-elicited SRCs for either group. However, the AUC for TMES-elicited cervicomedullary motor-evoked potential SRCs were significantly larger at post-testing in the SIT group only (25 W: P = 0.012, d = 0.870; 30% PPO: P = 0.016, d = 0.825). This data shows that overall corticospinal excitability is unchanged following SIT, whereas spinal excitability is enhanced. Although the precise mechanisms underlying these findings during arm cycling at post-SIT are unknown, it is suggested that the enhanced spinal excitability may represent a neural adaptation to training.NEW & NOTEWORTHY Two weeks of arm cycling sprint interval training (SIT) improves subsequent aerobic exercise performance and induces changes within the descending corticospinal pathway. Specifically, spinal excitability is enhanced following training, whereas overall corticospinal excitability does not change. These results suggest that the enhanced spinal excitability may represent a neural adaptation to training. Future work is required to discern the precise neurophysiological mechanisms underlying these observations.

Reduced isometric knee extensor force following anodal transcranial direct current stimulation of the ipsilateral motor cortex.

BACKGROUND: The goal of this study was to determine if 10-min of anodal transcranial direct current stimulation (a-tDCS) to the motor cortex (M1) is capable of modulating quadriceps isometric maximal voluntary contraction (MVC) force or fatigue endurance contralateral or ipsilateral to the stimulation site. METHODS: In a randomized, cross-over design, 16 (8 females) individuals underwent two sessions of a-tDCS and two sham tDCS (s-tDCS) sessions targeting the left M1 (all participants were right limb dominant), with testing of either the left (ipsilateral) or right (contralateral) quadriceps. Knee extensor (KE) MVC force was recorded prior to and following the a-tDCS and s-tDCS protocols. Additionally, a repetitive MVC fatiguing protocol (12 MVCs with work-rest ratio of 5:10-s) was completed following each tDCS protocol. RESULTS: There was a significant interaction effect for stimulation condition x leg tested x time [F(1,60) = 7.156, p = 0.010, ηp2 = 0.11], which revealed a significant absolute KE MVC force reduction in the contralateral leg following s-tDCS (p < 0.001, d = 1.2) and in the ipsilateral leg following a-tDCS (p < 0.001, d = 1.09). A significant interaction effect for condition x leg tested [F(1,56) = 8.12, p = 0.006, ηp2 = 0.13], showed a significantly lower ipsilateral quadriceps (to tDCS) relative MVC force with a-tDCS, versus s-tDCS [t(15) = -3.07, p = 0.016, d = -0.77]. There was no significant difference between the relative contralateral quadriceps (to tDCS) MVC force for a-tDCS and s-tDCS. Although there was an overall significant [F(1,56) = 8.36, p < 0.001] 12.1% force decrease between the first and twelfth MVC repetitions, there were no significant main or interaction effects for fatigue index force. CONCLUSION: a-tDCS may be ineffective at increasing maximal force or endurance and instead may be detrimental to quadriceps force production.

Social Group Identification as a Predictor of Pretreatment Suicidal Ideation and Intent in those Receiving cCBT: Evidence from a Scottish Primary Care Sample.

Suicidal ideation and intent are strongly linked with suicidal attempts and completions; however, no study to date has explored the predictors of ideation and intent within a sample receiving computerized cognitive behavioral therapy (cCBT) as an intervention for mild to moderate depression. The current study investigates the impact of social group identification and socioeconomic deprivation, together with a number of important clinical and demographic factors, on suicidal ideation and intent within a Scottish primary care sample. Participants (N = 1062) were recruited from referrals to a cCBT program, "Beating the Blues" (BtB), over a 33-month period. Participants completed three versions of the group identifications scale (GIS), one for each of three groups: family, community, and a social group of choice. Single-item questions on suicidal ideation and intent were delivered through the BtB program, and demographic and clinical information were collected on commencing BtB. More severe psychological distress, fewer group identifications, younger age, and being male, all significantly predicted the presence of suicidal ideations, however only greater severity of psychological distress was associated with more serious suicidal intent. These results provide valuable insight into factors associated with suicidal ideation and intent within a clinical population from a psychosocial, psychopharmacological, and demographic perspective.

Drug network identification predicts injecting risk behavior among people who inject drugs on hepatitis C virus treatment in Tayside, Scotland.

The risk of Hepatitis C Virus (HCV) acquisition among People Who Inject Drugs (PWID) remains high when injecting risk behavior within networks endures. Several psychosocial factors influence such behavior. Following a drive within Tayside, a geographic region in Scotland, to achieve World Health Organization HCV elimination targets, addressing HCV re-infection risk as a barrier to elimination is critically important. This cross-sectional study seeks to address this barrier to elimination by investigating associations between group identification (one's subjective sense of belonging and connectedness to a social group coupled with a sense of shared goals, beliefs and values with the other members of the group) and injecting risk behavior among PWID on HCV treatment at needle and syringe provision sites in Tayside. Participants completed psychosocial questionnaires between treatment weeks zero and three of treatment. Correlation analyses were undertaken, and significant factors included in multiple linear regression models for injecting risk behavior. Injecting frequency, drug network identification, and family identification, were correlated with injecting risk behavior, and drug network identification had a positive predictive on injecting risk behavior. Identification with a social group, conventionally associated with improved health, may pose health risks in specific contexts. Healthcare providers should consider stratifying individuals with higher group identification with PWID networks for enhanced harm reduction engagement to mitigate transmissible infection risk among PWID. Additionally, psychological interventions to strengthen group identification with networks which impact positively on health behavior should be explored.

Interhemispheric inhibition is different during arm cycling than a position- and intensity-matched tonic contraction.

Task-dependent changes in inhibition may explain why supraspinal excitability is higher during arm cycling than an intensity- and position-matched tonic contraction. The present study investigated whether interhemispheric inhibition (IHI) associated with biceps brachii activity was different during arm cycling, a locomotor output, compared to a tonic contraction. IHI was quantified using an ipsilateral silent period (iSP) evoked via transcranial magnetic stimulation (TMS) of the ipsilateral motor cortex. TMS was delivered at 120% resting motor threshold during the mid-elbow flexion phase of arm cycling (6 o'clock position, made relative to a clock face) and during a position- and intensity-matched tonic contraction. In total, 36 participants took part in the study. However, only 14 participants demonstrated IHI during arm cycling and 10 participants during tonic contraction. Of these participants, eight displayed clear iSPs during arm cycling and tonic contraction. The iSP duration was longer during arm cycling than tonic contraction (p < 0.05), while iSP EMG amplitude and area were not different between tasks (p > 05 for both comparisons). The main finding from this study is that IHI appears to be stronger during arm cycling than an intensity- and position-matched tonic contraction. This does not support previous findings of higher supraspinal excitability during arm cycling.

Endurance-exercise training adaptations in spinal motoneurones: potential functional relevance to locomotor output and assessment in humans.

It is clear from non-human animal work that spinal motoneurones undergo endurance training (chronic) and locomotor (acute) related changes in their electrical properties and thus their ability to fire action potentials in response to synaptic input. The functional implications of these changes, however, are speculative. In humans, data suggests that similar chronic and acute changes in motoneurone excitability may occur, though the work is limited due to technical constraints. To examine the potential influence of chronic changes in human motoneurone excitability on the acute changes that occur during locomotor output, we must develop more sophisticated recording techniques or adapt our current methods. In this review, we briefly discuss chronic and acute changes in motoneurone excitability arising from non-human and human work. We then discuss the potential interaction effects of chronic and acute changes in motoneurone excitability and the potential impact on locomotor output. Finally, we discuss the use of high-density surface electromyogram recordings to examine human motor unit firing patterns and thus, indirectly, motoneurone excitability. The assessment of single motor units from high-density recording is mainly limited to tonic motor outputs and minimally dynamic motor output such as postural sway. Adapting this technology for use during locomotor outputs would allow us to gain a better understanding of the potential functional implications of endurance training-induced changes in human motoneurone excitability on motor output.

Spinal and corticospinal excitability in response to reductions in skin and core temperatures via whole-body cooling.

Cold stress impairs fine and gross motor movements. Although peripheral effects of muscle cooling on performance are well understood, less is known about central mechanisms. This study characterized corticospinal and spinal excitability during surface cooling, reducing skin (Tsk) and esophageal (Tes) temperatures. Ten subjects (3 females) wore a liquid-perfused suit and were cooled (9 °C perfusate, 90 min) and rewarmed (41 °C perfusate, 30 min). Transcranial magnetic stimulation (eliciting motor evoked potentials [MEPs]), as well as transmastoid (eliciting cervicomedullary evoked potentials [CMEPs]) and brachial plexus (eliciting maximal compound motor action potentials [Mmax]) electrical stimulation, were applied at baseline, every 20 min during cooling, and following rewarming. Sixty minutes of cooling reduced Tsk by 9.6 °C (P < 0.001), but Tes remained unchanged (P = 0.92). Tes then decreased by ∼0.6 °C in the next 30 min of cooling (P < 0.001). Eight subjects shivered. During rewarming, shivering was abolished, and Tsk returned to baseline, while Tes did not increase. During cooling and rewarming, Mmax, MEP, and MEP/Mmax remained unchanged from baseline. However, CMEP and CMEP/Mmax increased during cooling by ∼85% and 79% (P < 0.001), respectively, and remained elevated post-rewarming. The results suggest that spinal excitability is facilitated by reduced Tsk during cooling and reduced Tes during warming, while corticospinal excitability remains unchanged. ClinicalTrials.gov ID: NCT04253730. Novelty: This is the first study to characterize corticospinal and spinal excitability during whole-body cooling and rewarming in humans. Whole body cooling did not affect corticospinal excitability. Spinal excitability was facilitated during reductions in both skin and core temperatures.

Democratizing epilepsy care: Utility and usability of an electronic patient portal.

OBJECTIVES: Electronic patient portals (ePortals) can facilitate greater healthcare democratization by providing patients and/or their authorized care partners with secure access to their medical records when and where needed. Such democratization can promote effective healthcare provider-patient partnerships, shared decision-making, and greater patient engagement in managing their health condition. This study examined the usefulness of providing individualized services and care in epilepsy (PiSCES), an epilepsy ePortal, as an enabler of more democratized epilepsy care. METHODS: Seventy-two individuals with epilepsy and 18 care partners were invited to report on their experience of interacting via PiSCES with clinical documents (epilepsy care summary record; epilepsy clinic letters) authored about them by healthcare providers. The OpenNotes reporting tool was adapted to capture participant experience. RESULTS: Twenty-five percent of invited patients and 44% of invited care partners reported on interacting with their epilepsy care summary; 14% of patients and 67% of care partners invited reported on their epilepsy clinic letters. Participant testimonials illustrate the value of PiSCES in: promoting autonomy, aiding memory, developing the knowledgeable patient, and enhancing healthcare partnerships. Ninety-six percent and 100% of respondents, respectively, reported understanding their epilepsy care summary and epilepsy clinic letter; 77% said the summary described their epilepsy history to date; 96% indicated that the letter provided an accurate description of their clinical encounter; 92% and 96%, respectively, valued access to their summary record and clinic letters; 77% of summary record and 73% clinic letter respondents reported learning something about their epilepsy or the healthcare service via PiSCES. Illustrating their potential patient and care partner safety role, 42% respondents identified inaccuracies in their clinical documents which were subsequently resolved by a clinician. SIGNIFICANCE: In the post-digital world highly customized on-demand products and services have come to be expected. Similarly, in epilepsy care, technologies such as PiSCES can enable more personalized, transparent, and engaging services.

Moving forward: methodological considerations for assessing corticospinal excitability during rhythmic motor output in humans.

The use of transcranial magnetic stimulation to assess the excitability of the central nervous system to further understand the neural control of human movement is expansive. The majority of the work performed to-date has assessed corticospinal excitability either at rest or during relatively simple isometric contractions. The results from this work are not easily extrapolated to rhythmic, dynamic motor outputs, given that corticospinal excitability is task-, phase-, intensity-, direction-, and muscle-dependent (Power KE, Lockyer EJ, Forman DA, Button DC. Appl Physiol Nutr Metab 43: 1176-1185, 2018). Assessing corticospinal excitability during rhythmic motor output, however, involves technical challenges that are to be overcome, or at the minimum considered, when attempting to design experiments and interpret the physiological relevance of the results. The purpose of this narrative review is to highlight the research examining corticospinal excitability during a rhythmic motor output and, importantly, to provide recommendations regarding the many factors that must be considered when designing and interpreting findings from studies that involve limb movement. To do so, the majority of work described herein refers to work performed using arm cycling (arm pedaling or arm cranking) as a model of a rhythmic motor output used to examine the neural control of human locomotion.

Genomic considerations for FHIR®; eMERGE implementation lessons.

Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7® FHIR®), to represent clinical genomics results. These new standards improve the utility of HL7® FHIR® as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.

Interhemispheric inhibition to the biceps brachii during arm cycling.

This is the first demonstration of interhemispheric inhibition (IHI) during a locomotor output, arm cycling. IHI was quantified by assessing the depth of the ipsilateral silent period (iSP) evoked via transcranial magnetic stimulation of the motor cortex. There was a significant reduction in electromyography (EMG) amplitude of the iSP during cycling compared with the control EMG (16.8% ± 17.1%; p < 0.001). Depth and area for measuring the iSP during arm cycling are discussed. Novelty: This is the first study to demonstrate activation of the cortical circuit, interhemispheric inhibition, during a locomotor output.

Coproducing health and well-being in partnership with patients, families, and healthcare providers: A qualitative study exploring the role of an epilepsy patient portal.

BACKGROUND: Coproduced epilepsy care sees people with epilepsy (PwE), their care-proxies, and healthcare providers (HCPs), working together as partners to build strong relationships, improve communication, trust, and share decision-making. Coproduction underpins good quality patient- and family-centered care (PFCC) that is responsive to individual patient needs, preferences, and values. By facilitating information sharing and exchange between partners, electronic patient portals (ePortal) can enable coproduction. This paper explores what HCPs, PwE, and their care-proxies value from their user experience of PiSCES, the Irish epilepsy ePortal. METHODS: A purposeful sample of actors involved in the receipt and delivery of epilepsy care and services were recruited via adult epilepsy centers at St James's and Beaumont Hospitals in Dublin. Interactive codesign sessions, surveys, and focus groups were used to elicit perspectives from PwE, care-proxies, and HCPs to understand their perception of how PiSCES could enhance or inhibit the epilepsy care process. RESULTS: Results illustrate that participants welcome the role PiSCES can play in: empowering PwE/care-proxies, strengthening confidence in the healthcare system; aiding memory; advancing health literacy, motivating PwE to understand their condition better; acting as a passport of care between different clinical settings; and creating a foundation for stronger coproduction partnerships. PiSCES was generally embraced; however, some HCPs expressed plausible concerns about how clinical implementation might impact their work practices. CONCLUSION: "Nothing about me without me" is a core value of the PiSCES initiative, recognizing that people need to be included in the planning of their own treatment and care. Our data show that PwE, their care-proxies, and HCPs value PiSCES potential, particularly in bolstering healthcare partnerships that foster inclusion, confidence, and trust.

Modulation of Corticospinal Excitability with Contralateral Arm Cycling.

This is the first study to examine the influence of activity in one limb on corticospinal excitability to the contralateral limb during a locomotor output. Corticospinal and spinal excitability to the biceps brachii of the ipsilateral arm were assessed using transcranial magnetic stimulation (TMS) of the motor cortex and transmastoid electrical stimulation (TMES) of corticospinal axons, respectively. Responses were evoked during the mid-elbow extension position of arm cycling across three different cycling tasks: (1) bilateral arm cycling (BL), (2) unilateral, contralateral cycling with the ipsilateral arm moving passively (IP), and (3) unilateral, contralateral cycling with the ipsilateral arm at rest (IR). Each of these three tasks were performed at two cadences: 60 and 90 rpm. TMS-induced motor evoked potential (MEPs) amplitudes were significantly smaller during BL compared to the IP and IR conditions; however, MEP amplitudes were not significantly different between IP and IR. TMES-evoked cervicomedullary MEP (CMEPs) amplitudes followed a similar pattern of task-dependent modulation, with BL having the smallest CMEPs and IR having the largest. In line with our previous findings, MEP amplitudes increased and CMEP amplitudes decreased as the cadence increased from 60 to 90 rpm. We suggest that the higher corticospinal excitability to the ipsilateral limb during the IP and IR conditions was predominantly due to disinhibition at both the cortical and spinal levels.

Changes in muscle activity during the flexion and extension phases of arm cycling as an effect of power output are muscle-specific.

Arm cycling is commonly used in rehabilitation settings for individuals with motor impairments in an attempt to facilitate neural plasticity, potentially leading to enhanced motor function in the affected limb(s). Studies examining the neural control of arm cycling, however, typically cycle using a set cadence and power output. Given the importance of motor output intensity, typically represented by the amplitude of electromyographic (EMG) activity, on neural excitability, surprisingly little is known about how arm muscle activity is modulated using relative workloads. Thus, the objective of this study was to characterize arm muscle activity during arm cycling at different relative workloads. Participants (n = 11) first completed a 10-second maximal arm ergometry sprint to determine peak power output (PPO) followed by 11 randomized trials of 20-second arm cycling bouts ranging from 5-50% of PPO (5% increments) and a standard 25 W workload. All submaximal trials were completed at 60 rpm. Integrated EMG amplitude (iEMG) was assessed from the biceps brachii, brachioradialis, triceps brachii, flexor carpi radialis, extensor carpi radialis and anterior deltoid of the dominant arm. Arm cycling was separated into two phases, flexion and extension, relative to the elbow joint for all comparisons. As expected, iEMG amplitude increased during both phases of cycling for all muscles examined. With the exception of the triceps brachii and extensor carpi radialis, iEMG amplitudes differed between the flexion and extension phases. Finally, there was a linear relationship between iEMG amplitude and the %PPO for all muscles during both elbow flexion and extension.

The effect of 6 weeks of high intensity interval training on myelin biomarkers and demyelination in experimental autoimmune encephalomyelitis model.

Exercise has been shown to increase myelin biomarkers such as klotho and PLP and improve clinical and pathological symptoms using the experimental autoimmune encephalomyelitis (EAE) model of multiple sclerosis (MS). In the present study, we evaluated whether 6 weeks of high-intensity interval training (HIIT) prior to induction of EAE increase klotho and/or PLP and attenuate the severity of symptoms and/or disease progression in EAE model. Our data demonstrate that HIIT increased klotho and PLP and decreased disability. These proteins are associated with maintaining myelination and further research is required to examine potential clinical relevance.

Effectiveness of the use of implementation intentions on reduction of substance use: A meta-analysis.

OBJECTIVE: Background: Substance use, such as alcohol drinking, tobacco smoking and illicit drug use, have been associated with severe health conditions and an annual estimated 12 % of all deaths worldwide. Implementation intentions are self-regulatory processes which help achieve health-related behaviour change. OBJECTIVES: To investigate the effectiveness of forming implementation intentions to reduce substance use. DESIGN: Data sources: PsycINFO, MEDLINE, Psychology and Behavioural Science Collection, clinicaltrials.gov, UK Clinical Trials Gateway, Reference lists. INCLUSION CRITERIA: RCT of substance users forming implementation intentions to reduce consumption (active or passive control condition present). STUDY APPRAISAL AND SYNTHESIS METHODS: the SIGN checklist for RCT quality was used for quality appraisal, data was extracted by two reviewers. RESULTS: Twenty-one studies were included in the meta-analysis. The overall effect size for alcohol use was g = 0.31 (95 % CI: 0.21, 0.42), p < .001; for tobacco smoking g = 0.31 (CI: 0.12, 0.5), p = .002; no studies were retrieved for the use of implementation intentions on illicit drug use. CONCLUSION: This review suggests that implementation intention interventions are effective in reducing some forms of substance use (alcohol use and tobacco smoking), albeit revealing small effect sizes, among the general population and students in secondary and higher education. Review registration number: CRD42018116170.

The development of an epilepsy electronic patient portal: Facilitating both patient empowerment and remote clinician-patient interaction in a post-COVID-19 world.

OBJECTIVES: The current coronavirus disease 2019 (COVID-19) pandemic stresses an urgency to accelerate much-needed health service reform. Rapid and courageous changes being made to address the immediate impact of the pandemic are demonstrating that the means and technology to enable new models of health care exist. For example, innovations such as electronic patient portals (ePortal) can facilitate (a) radical reform of outpatient care; (b) cost containment in the economically constrained aftermath of the pandemic; (c) environmental sustainability by reduction of unnecessary journeys/transport. Herein, the development of Providing Individualised Services and Care in Epilepsy (PiSCES), an ePortal to the Irish National Epilepsy Electronic Patient Record, is demonstrated. This project, which pre-dates the COVID-19 crisis, aims to facilitate better patient- and family-centered epilepsy care. METHODS: A combination of ethnographic research, document analysis, and joint application design sessions was used to elicit PiSCES requirements. From these, a specification of desired modules of functionality was established and guided the software development. RESULTS: PiSCES functional features include "My Epilepsy Care Summary," "My Epilepsy Care Goals," "My Epilepsy Clinic Letters," "Help Us Measure Your Progress," "Prepare For Your Clinic Visit," "Information for Your Healthcare Provider." The system provides people with epilepsy access to, and engages them as co-authors of, their own medical record. It can promote improved patient-clinician partnerships and facilitate patient self-management. SIGNIFICANCE: In the aftermath of COVID-19, it is highly unlikely that the healthcare sector will return to a "business as usual" way of delivering services. The pandemic is expected to accelerate adoption of innovations like PiSCES. It is therefore a catalyst for change that will deliver care that is more responsive to individual patient needs and preferences.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients. Variant interpretation followed American College of Medical Genetics and Genomics (ACMG) guidelines. We demonstrate that WES, in combination with array-comparative genomic hybridisation, provides a diagnostic rate of 27% in unrelated adult epilepsy patients and 42% in unrelated paediatric patients. We observe a 2.7% rate of ACMG-defined incidental findings. Our findings indicate that WES has similar utility in both adult and paediatric cohorts and is appropriate for diagnostic testing in both epilepsy patient groups.

Health Professionals' Perceptions and Practice of Family Centred Care for Children Injured in Road Traffic Accidents: A Qualitative Study in Ghana.

The Family Centered Care (FCC) model is widely recognized as the standard for pediatric care practice in the context of families and hospitalized children. Healthcare professionals' knowledge of the FCC model is therefore central to its successful implementation. Nonetheless, there is paucity of scholarship in the Ghanaian context, regarding professionals' knowledge and practice of FCC. OBJECTIVES: This study, being the first in the Ghanaian context aimed to explore the perceptions of family centered care among healthcare professionals who provide the healthcare needs of children hospitalized through road traffic accidents. METHOD: Twenty-four (24) healthcare professionals were interviewed as part of a larger study which adopted a Grounded Theory approach. Data collection and analysis occurred concurrently. Here, we employed constant comparative methods to structure emerging categories and sub-categories. FINDINGS: Most health professionals in the study perceived family centered care to mean family involvement, although obvious inconsistencies characterized existing practices. Based on contextual perspectives, three categories emerged, namely; parental involvement, communication and setting boundaries. CONCLUSION: The concept of FCC is a familiar terminology among health professionals. However, its principles, components and dimensions in the western context are alien to healthcare professionals in Ghana. A context-specific FCC model which reflects social values and cultural norms is therefore required for healthcare services to children and families in Ghana.