Facilitating individuals and families affected by fragile X syndrome to participate in medication trials.

BACKGROUND: Recently, there has been an increasing number of trials of medications for fragile X syndrome (FXS). In order to be adequately powered, trials have involved many centres around the world with relatively small numbers of participants recruited at each site. This study aims to understand the barriers to, and how best to facilitate participation in, medication trials in order to improve recruitment and the experience of participants with FXS. METHODS: A mixed methods design was used to collect both quantitative and qualitative data. Participants were invited to participate through the UK Fragile X Society, a local mailing list and through social media. Those who agreed to participate completed a quantitative questionnaire and indicated whether they would be willing to participate in a follow-up focus group. RESULTS: The questionnaire was completed by 328 individuals who either had FXS, or were a parent, carer or family member of an individual with FXS. Over two-thirds of participants reported concern about side effects, while over one-third mentioned swallowing tablets, blood tests, financial aspects and travel as barriers to participation. Focus groups with 12 individuals highlighted themes of trial challenges, strategies to overcome these and motivating factors to participate. CONCLUSIONS: Many of the factors, which potentially negatively influence participation in a clinical trial for FXS, could be mitigated in relatively simple ways. Easily accessible information, particularly about safety issues, the research team and the trial environment should be standard practice. Desensitisation programmes for blood testing, provision of different preparations of medication (e.g. liquid) and use of a combination of local, remote and site visits to reduce travel and time should also be considered.

Bridging the translational divide: identical cognitive touchscreen testing in mice and humans carrying mutations in a disease-relevant homologous gene.

Development of effective therapies for brain disorders has been hampered by a lack of translational cognitive testing methods. We present the first example of using the identical touchscreen-based cognitive test to assess mice and humans carrying disease-related genetic mutations. This new paradigm has significant implications for improving how we measure and model cognitive dysfunction in human disorders in animals, thus bridging the gap towards effective translation to the clinic.

Learning Disability Liaison Nursing Services in south-east Scotland: a mixed-methods impact and outcome study.

BACKGROUND: There have been significant concerns about the care and treatment of people with intellectual disabilities (ID) when attending general hospitals, which have led to inquiries that highlight service and systems failures. One response has been the development of Learning Disability Liaison Nursing (LDLN) Services across the UK that aim to ensure that additional, specialist support is available for patients, their carers and general healthcare professionals. METHODS: A mixed-methods study to investigate the impact of LDLN Services across four Scottish NHS boards was undertaken. In total, 323 referrals made over 18 months were analysed along with qualitative data drawn from interviews and focus groups with a sample of 85 participants including patients with ID (n = 5), carers (n = 16), primary care healthcare professionals (n = 39) and general hospital professionals (n = 19) and learning disability liaison nurses (n = 6). RESULTS: The referral patterns to the four liaison nursing services closely matched the known health needs of adults with ID, with common admissions being due to neurological, respiratory and gastrointestinal issues. The LDLN role was seen to be complex and impacted on three key areas: (i) clinical patient care; (ii) education and practice development; and (iii) strategic organisational developments. Specific patient outcomes were linked to issues relating to capacity and consent to treatment, fostering person-centred adjustments to care, augmenting communication and the liaison nurses acting as positive role models and ambassadors for people with ID. CONCLUSIONS: The LDLN Services were valued by stakeholders by achieving person-centred outcomes. With their expert knowledge and skills, the liaison nurses had an important role in developing effective systems and processes within general hospital settings. The outcomes highlight the importance of supporting and promoting LDLN Services and the challenges in delivering the multifaceted elements of the role. There is a need to take account of the complex and multidimensional nature of the LDLN role and the possible tensions between achieving clinical outcomes, education and practice developments and organisational strategic initiatives.