OP21 – 2277: Centre for Rett syndrome in Denmark – Clinical follow-up with short distance to research

Objective Since 2011 persons with Rett syndrome (RTT) in Denmark have had the possibility for life-long multi-disciplinary follow-up at the nation-wide Centre for Rett syndrome. In 2007–2011 a PhD study was performed. We want to describe experiences from the centre focused on clinical follow-up, counselling and inclusion in research projects. Methods Retrospective survey (31 December 2014); parameters: age of patients, mutations, outpatient visits, local counselling visits, participation in research projects. Only alive patients were included and all ages were calculated by 31 December 2014. Results 92 patients (86% of registered Danish patients) with a clinical RTT diagnosis visited the centre 2007–2014. 64 of these patients were evaluated 2012–2014; mean of 2.5 visits; total 160; range 1–7; ages 2.5–58.4 years; mean 19.8 years; median 17.0 years. 60 MECP2 mutations, one CDKL5, 3 without mutation. Of the 92 patients, 28 were only seen in 2007–2011: aged 12.4 to 60.3 years; mean 29.8 years; median 30.6 years. 47 were re-evaluated in 2012–2014: aged 4.6 to 58.4 years; mean 22.2 years; median 18.26 years. Fifty-seven counselling visits were performed at schools, day-care centres and homes for disabled persons. Sixty-one (58 from the alive cohort) patients were included in the PhD study “Bone mass and fracture occurrence in Danish patients with Rett syndrome” (Gitte Roende) 2007–2011. In 2013–2014, 42 persons (3–45 years) participated in pilot studies regarding physiotherapeutic outcome measures. Conclusion A large proportion of persons with RTT are referred to the centre; however adults to a lesser degree. Once assessed by the multi-disciplinary team, they usually choose to continue regular outpatient visits and counselling. There are good opportunities for implementation of research projects (prospective studies and follow-up of clinical data) and many show interest in participation. In 2015 they will be invited to the PhD study “Living an active life with Rett syndrome”.