Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

BACKGROUND: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. METHODS AND OBJECTIVES: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. RESULTS: 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. CONCLUSIONS: This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

Direct observation of muonium reacting with uncapped gold nanoparticles in porous silica and nature of the final state.

We report the reaction of muonium (Mu = [µ+e-]), a light isotopic analog of hydrogen, with uncapped gold nanoparticles embedded in mesoporous silica. Using the radio-frequency muon spin rotation (RF-µSR) technique, we directly observe and characterize the resulting final state on the nanoparticle surface, showing conclusively its diamagnetic nature. The magnetic environment experienced by the reacted muons is only weakly perturbed compared to that of muons in a silica reference, consistent with the surface of the gold nanoparticles being metallic and non-magnetic. We demonstrate the potential of RF-µSR for the investigation of the surface properties of nanoparticles and show the feasibility of Knight shift measurements of muons on metal surfaces.

Access to assistive technology for people with intellectual disabilities: a systematic review to identify barriers and facilitators.

BACKGROUND: The World Health Organisation has launched a programme to promote Global Cooperation on Assistive Technology. Its aim is to increase access to high-quality affordable assistive products (AP) for everybody in need. People with intellectual disabilities (ID) are a specific group that could benefit from AP, but use less AP compared to their non-intellectual disabled peers. METHOD: A systematic literature search was carried out to identify barriers and potential facilitators for access to AP for people with ID globally. The search strategy terms were 'Intellectual Disability' and 'Assistive Technology' with the following electronic literature databases PubMed, Embase, ASSIA, Web of Science, Medline, CINAHL complete, PsycInfo, Scopus and ERIC. The quality and relevance of the studies were assessed. Factors associated with access were identified thematically, categorised into barriers and facilitators and mapped into themes. RESULTS: In all, 22 key studies were retrieved, describing 77 barriers and 56 facilitators. The most frequently reported barriers were related to lack of funding and cost of AP, lack of awareness about AP and inadequate assessment. An increase of knowledge and awareness about AP and the need of AP for people with ID were most often extracted as factors that could potentially facilitate access. CONCLUSIONS: This review proposes actions linked to the barriers and facilitators that have a particular importance for people with ID to access AP. Yet, only limited research is available describing factors that influence access to AP for people with ID in low and middle income countries and rural areas.

Access to health care for persons with disabilities in rural South Africa.

BACKGROUND: Global research suggests that persons with disabilities face barriers when accessing health care services. Yet, information regarding the nature of these barriers, especially in low-income and middle-income countries is sparse. Rural contexts in these countries may present greater barriers than urban contexts, but little is known about access issues in such contexts. There is a paucity of research in South Africa looking at "triple vulnerability" - poverty, disability and rurality. This study explored issues of access to health care for persons with disabilities in an impoverished rural area in South Africa. METHODS: The study includes a quantitative survey with interviews with 773 participants in 527 households. Comparisons in terms of access to health care between persons with disabilities and persons with no disabilities were explored. The approach to data analysis included quantitative data analysis using descriptive and inferential statistics. Frequency and cross tabulation, comparing and contrasting the frequency of different phenomena between persons with disabilities and persons with no disabilities, were used. Chi-square tests and Analysis of Variance tests were then incorporated into the analysis. RESULTS: Persons with disabilities have a higher rate of unmet health needs as compared to non-disabled. In rural Madwaleni in South Africa, persons with disabilities faced significantly more barriers to accessing health care compared to persons without disabilities. Barriers increased with disability severity and was reduced with increasing level of education, living in a household without disabled members and with age. CONCLUSIONS: This study has shown that access to health care in a rural area in South Africa for persons with disabilities is more of an issue than for persons without disabilities in that they face more barriers. Implications are that we need to look beyond the medical issues of disability and address social and inclusion issues as well.

Communication: Chemisorption of muonium on gold nanoparticles: A sensitive new probe of surface magnetism and reactivity.

Chemisorption of muonium onto the surface of gold nanoparticles has been observed. Muonium (µ+e-), a light hydrogen-like atom, reacts chemically with uncapped 7 nm gold nanoparticles embedded in mesoporous silica (SBA-15) with a strong temperature-dependent rate. The addition rate is fast enough to allow coherent spin transfer into a diamagnetic muon state on the nanoparticle surface. The muon is well established as a sensitive probe of static or slowly fluctuating magnetic fields in bulk matter. These results represent the first muon spin rotation signal on a nanoparticle surface or any metallic surface. Only weak magnetic effects are seen on the surface of these Au nanoparticles consistent with Pauli paramagnetism.

Self-control and its relation to emotions and psychobiology: evidence from a Day Reconstruction Method study.

This study aimed to ascertain whether self-control predicts heart rate, heart rate variability, and the cortisol slope, and to determine whether health behaviors and affect patterns mediate these relationships. A sample of 198 adults completed the Self-Control Scale (Tangney in J Pers 72:271-322, 2004), and reported their exercise levels, and cigarette and alcohol use. Participants provided a complete account of their emotional experiences over a full day, along with morning and evening salivary cortisol samples and a continuous measure of cardiovascular activity on the same day. High trait self-control predicted low resting heart rate, high heart rate variability, and a steep cortisol slope. Those with high self-control displayed stable emotional patterns which explained the link between self-control and the cortisol slope. The self-controlled smoked less and this explained their low heart rates. The capacity to sustain stable patterns of affect across diverse contexts may be an important pathway through which self-control relates to psychophysiological functioning and potentially health.

Non-use of Formal Health Services in Malawi: Perceptions from Non-users.

BACKGROUND: The study upon which this paper is based was undertaken to understand users' and non-users' perceptions concerning facilitators and barriers to equitable and universal access to health care in resource-poor countries such as Malawi. In this study, non-users of health services were defined as people who were not in need of health services or those who had stopped using them due to significant barriers. METHODS: A total of 80 interviews with non-users of health services were conducted in Rumphi, Ntchisi, Phalombe and Blantyre Districts of Malawi. Interviews focused on why informants were not using formal health services at the time of data collection. In order to identify non-users, snowballing was used health surveillance assistants, village headmen and community members also helped. One focus group discussion was also conducted with non-users of health services who were members of the Zion Church. RESULTS: Informants described themselves as non-users of health services due to several reasons: cost of health services; long distances to health facilities; poor attitude of health workers; belief in the effectiveness of traditional medicines; old age and their failure to walk. Others were non-users due to their disability; hence they could not walk over long distances or could not communicate effectively with health providers. Some of these non-users were complete non-users, namely members of the Zion Church and those who believed in traditional medicine, and they stated that nothing could be done to transform them into users of health services. Other non-users stated that they could become users if their challenges were addressed e.g. for those who were non-users of health services due to poor attitudes of health workers, they stated that if these health workers were transferred they would be able to access health services. CONCLUSIONS: Public health education targeting both health workers and non-users, ensuring a functional outreach program and addressing other health system challenges such as shortage of drugs and human resources would assist in transforming non-users into users of health services.

Trinity amputation and prosthesis experience scales: a psychometric assessment using classical test theory and rasch analysis.

OBJECTIVE: To perform a detailed psychometric analysis using both classical test theory and Rasch analysis of the three main scales of the Trinity Amputation and Prosthesis Experience Scales (TAPES) in people with a lower-limb amputation. DESIGN: A sample of 498 persons who were prosthesis users with a lower-limb amputation was retrospectively studied, pooled from a number of studies undertaken across the United Kingdom and Ireland in the past decade in which the TAPES had been completed as part of a postal survey. Both factor analysis techniques and Rasch analysis were performed on TAPES data. Dimensionality, item fit to the model, response category performance, and internal construct validity were assessed. Category collapsing and item removal were considered to improve the questionnaire. RESULTS: The analyses suggested to restructure the TAPES as follows: (a) three psychosocial adjustment subscales with a four-point rating scale (and a reworded item); (b) an activity restriction scale based on ten items with their original three-point rating scale; and (c) two satisfaction with the prosthesis subscales using a three-point rating scale. All scales and subscales showed acceptable internal consistency and ability to define a distinct hierarchy of persons along the measured construct. CONCLUSIONS: This study empirically identified a revised version of the TAPES (TAPES-R) with a simplified general structure and psychometrically suitable for assessing the complex experience of amputation and adjustment to a lower-limb prosthesis. Additional studies are needed to confirm and further explore its measurement properties in other samples, thereby adding clinical validity to the instrument.

Psychosocial adjustment to diabetes-related lower limb amputation.

AIM: To examine psychosocial adjustment in persons with lower limb amputations related to diabetes. METHODS: Thirty-eight participants with diabetes-related lower limb amputations, recruited from two limb-fitting centres, completed three psychological self-report assessments: the Trinity Amputation and Prosthesis Experience Scales (TAPES); the Hospital Anxiety and Depression Scale (HADS); and the Amputation Body Image Scale-Revised (ABIS-R). RESULTS: Over 18% of participants scored above the normal range (> 8) for depression on the HADS and 18.5% scored above the normal range for anxiety. Both depression (rho = 0.75, P < 0.01) and anxiety (rho = 0.62, P < 0.01) scores were significantly associated with body image disturbance, as measured using the ABIS-R. Significant relationships were also observed between body image disturbance and three TAPES subscales measuring psychosocial adjustment [general adjustment (rho = -0.48, P < 0.01), social adjustment (rho = -0.51, P < 0.01), adjustment to limitations (rho = -0.45, P < 0.05)]. CONCLUSIONS: Individuals with diabetes-related amputations may be at elevated risk for psychological distress as a result of their co-morbid medical condition. Regular screening for anxiety and depression and the provision of appropriate follow-up care may therefore be advisable in this population.

Psychological issues in prosthetic and orthotic practice: a 25 year review of psychology in Prosthetics and Orthotics International.

In the inaugural edition of Prosthetics and Orthotics International, Fishman identified the psychological sciences as one of six indispensable areas of skill and knowledge in professional prosthetic-orthotic practice. Given the journal's significant role in reporting and developing pertinent research and practice, this review assesses the profile of psychology in prosthetic and orthotic research, as evidenced by the content of Prosthetics and Orthotics International since its inception. A MEDLINE search of the journal's abstracts over a twenty-five year period was conducted using the search terms: 'psychology', 'psychosocial', 'quality of life', 'developmental' and 'coping'. Results of this search are summarised under the following headings: (a) body image; (b) coping and adjustment; (c) developmental issues; (d) psychosocial well-being; (e) quality of life; and (f) psychological factors leading to amputation. On the basis of this review, the authors conclude by highlighting a number of key areas where the psychological aspects of prosthetics and orthotics warrant further investigation and dissemination.

Cross-cultural examination of the tripartite model with children: data from the Barretstown studies.

The Positive and Negative Affect Scale for Children (PANAS-C) and the Physiological Hyperarousal Scale for Children (PH-C) were administered to a group of 240 children from European countries to determine their utility in examining the tripartite model of anxiety and depression in a cross-cultural sample. Most of the children (n = 196) had been diagnosed with a medical illness; the remainder were siblings of these youngsters (n = 44). Only slight variations were noted in items between this sample and samples from the United States. Despite these minor differences, 3 distinct scales measuring the positive affect, negative affect, and physiological hyperarousal constructs of the tripartite model were identified. These findings illustrate that the PH-PANAS-C provides a useful measure of the tripartite model in a cross-cultural sample of youth. The findings also demonstrate that the tripartite model is generalizable to a cross-cultural milieu.

Novel bifunctional periodic mesoporous organosilicas, BPMOs: synthesis, characterization, properties and in-situ selective hydroboration-alcoholysis reactions of functional groups.

A new class of bifunctional periodic mesoporous organosilicas (BPMOs) containing two differently bonded organic moieties in a mesoporous host has been synthesized and characterized. By incorporating bridge-bonded ethylene groups into the walls and terminally bonded vinyl groups protruding into the channel space, both the chemistry and physical properties of the resulting BPMO could be modified. The materials have periodic mesoporous structures in which the bridging ethylene plays a structural and mechanical role and the vinyl groups are readily accessible for chemical transformations. The vinyl groups in the material underwent hydroboration with BH(3).THF and the resulting organoborane in the BPMO was quantitatively transformed into an alcohol using either H(2)O(2)/NaOH or NaBO(3).4H(2)O. The materials retained ordered structures after subsequent in situ reactions with largely unchanged pore volumes, specific surface areas and pore size distributions. Other organic functionalized BPMO materials may be synthesized in a similar manner or by further functionalizing the resulting borylated or alcohol functionalized BPMO materials. The thermal properties of the BPMO materials have also been investigated and are compared to those of the periodic mesoporous organosilica (PMO) materials. Noteworthy thermal events concern intrachannel reactions between residual silanols or atmospheric oxygen and organics in BPMOs. They begin around 300 degrees C and smoothly interconvert bridging ethylene to terminal vinyl groups and terminal vinyl to gaseous ethene and ethane, ultimately producing periodic mesoporous silica at 900 degrees C that exhibits good structural order and a unit-cell size decreased relative to that of the parent BPMO.

Phantom limb pain and residual limb pain following lower limb amputation: a descriptive analysis.

PURPOSE: This research aimed to develop a clearer picture of the experience of residual limb pain and phantom limb pain following a lower limb amputation and to gain a greater understanding of their relationships with physical and psychosocial variables. METHOD: One hundred and four participants completed the Trinity Amputation and Prosthesis Experience Scales (TAPES), which includes a section on each of, psychosocial issues, activity restriction, satisfaction with a prosthesis and pain (incidence, duration, level and extent of interference). RESULTS: The results showed that 48.1% of the sample experienced residual limb pain and 69.2% experienced phantom limb pain. While fewer people experienced residual limb pain, those who did, experienced it for longer periods, at a greater level of intensity and with a greater amount of interference in their daily lifestyle, than people who were experiencing phantom limb pain. The experience of residual limb pain was associated with other medical problems and low levels of Adjustment to Limitation. Phantom limb pain was associated with older age, being female, above knee amputation, causes other than congenital causes, not receiving support prior to the amputation, the experience of other medical problems, low scores on Adjustment to Limitation and high scores on Aesthetic Satisfaction with the prosthesis. CONCLUSION: These findings provide a greater understanding of the issues to be taken into consideration in the rehabilitation of people with a lower limb amputation.

Adjustment to an artificial limb: a qualitative perspective.

The purpose of this study was to identify factors considered to be important in the adjustment to amputation and the wearing of a prosthetic limb from the perspective of the person who has had a lower limb amputation. Hence, focus group methodology was employed as a means of acquiring perspectives within a population of young adults who had a lower limb amputation. Preliminary thematic analysis revealed that factors such as self-image, social, physical and practical concerns, the meaning attributed to and the acceptance of the amputation and support among others were important in the adjustment process. These findings have substantial implications for directing future research.

Positive meaning in amputation and thoughts about the amputated limb.

The majority of research conducted on the aftermath of amputation understandably concerns itself with its most distressing aspects. This research aimed to explore whether and how people think about their amputated limb, and whether and if they considered anything good had emerged from their amputation. One hundred and four (104) people completed the Trinity Amputation and Prosthesis Experience Scales (TAPES) and two open-ended questions. The majority of participants were young and had traumatic amputations. Fifty-six percent (56%) of people thought about their amputated limb. People with bilateral or a trans-femoral amputation were more likely to think about their amputated limb than people with a trans-tibial amputation. Forty-eight percent (48%) considered that something good had happened as a result of the amputation. Furthermore, finding positive meaning was significantly associated with more favourable physical capabilities and health ratings, lower levels of Athletic Activity Restriction and higher levels of Adjustment to Limitation. Future research and clinical implications are discussed.

Cultivating pluralism in health psychology.

Historically health, illness and healing operated through a single medium, or idiom, within relatively culturally encapsulated societies. Our increasingly porous societies now present us with a plethora of cultural explanations for our states of 'being'. Health 'seekers' can now turn to a variety of health 'providers'. The complexities of this situation are illustrated by reviewing research from Africa on cognitive tolerance. In many western societies the clinician is also faced with the challenge of having to work with a plurality of complex ideas about health and illness, which he or she may be unfamiliar with. The Problem Portrait Technique (PPT) is presented as a means of assisting practitioners (and researchers) to assess the interplay of culture and health. It is argued that health psychology should cultivate pluralism both by acknowledging the influence of culture on health and by embracing the diversity of methodological and conceptual perspectives within itself.

Psychological adjustment and coping in adults with prosthetic limbs.

The potential mediating effects of different coping strategies on the adjustment to living with a prosthetic limb were investigated in 44 adult amputees. Participants completed a questionnaire inquiring about coping, pain, emotional well-being, demographics, and disability-related variables. The coping strategy adopted and the extent of the adjustment to the prosthetic limb varied with age, site of limb loss, and cause of amputation. Furthermore, coping style mediated the adjustment to wearing a prosthetic limb. The results are discussed in terms of future applications and research.