A. Mahoney 10 , L. Mra ´zova ´ 4 , L. Pavlovska ´ 5 , J. Rahbek 10 , B. Steffensen 10 , S. Stringer 5 , I. Tournev 7 , P. Vondracek 4 , A. Wasylyszyn 9 , K. Bushby 2 , H. Lochmu ¨ ller 2 , J. Kirschner 1 1 University Medical Center Freiburg, Department of Neuropaediatrics and Muscle Disorders, Freiburg, Germany; 2 Newcastle University, Institute of Genetic Medicine, Newcastle, United Kingdom; 3 Bulgarian Association for Neuromuscular Diseases, Sofia, Bulgaria; 4 Brno University, Fakultnı ´ nemocnice, Brno, Czech Republic; 5 Action Duchenne, London, United Kingdom; 6 National Institute of Environmental Health, Budapest, Hun- gary; 7 Bulgarian Neuromuscular Disorders Society, Sofia, Bul- garia; 8 Heim Pal Children’s Hospital, Budapest, Hungary; 9 Warszawski Uniwersytet Medyczny, Warsaw, Poland; 10 RehabiliteringsCenter for Muskelsvind, Arhus, Denmark CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is the first step to identify gaps and to plan specific measures such as training sessions for professionals and workshops for patients. For this purpose, a large cross-sectional patient-survey about the received care and quality of life of patients with DMD has been performed since Sep- tember 2011 in seven European countries: Bulgaria, Czech Republic, Den- mark, Germany, Hungary, Poland and the United Kingdom. A total of 1,677 patients with Duchenne Muscular Dystrophy have received ques- tionnaires via the national patient registries. For the assessment of quality of care we defined outcome and process indicators. Outcome indicators include stage of the disease, age at loss of ambulation, ability to sit, num- ber of hospitalisations, cardiac and pulmonary function and age at diag- nosis. Process indicators comprise the frequency of medical assessments and received treatment, e.g. the use of corticosteroids, non-invasive venti- lation and assistive devices. By March 31st 1,093 of 1,677 patients/families responded (66 percent). Response by country were: Bulgaria 45/73, Czech Republic 92/191, Denmark 92/131, Germany 440/545, Hungary 62/70, Poland 137/246, and for United Kingdom 223/421. Key findings about health status, received treatment, and quality of life of patients with DMD in Europe will be presented. This is the largest ever cross-sectional survey of the care and quality of life of people with DMD. The final results will provide detailed insight into the current situation of people with DMD in Europe and help to identify gaps to further improve the situation of affected patients and families. http://dx.doi:10.1016/j.nmd.2012.06.277 S.P.60 Neurobehavioural disorders in Duchenne Muscular Dystrophy V. Ricotti 1 , M. Scoto 2 , W.P.L. Mandy 3 , K. Entwistle 3 , S.A. Robb 2 , E. Mercuri 4 , D.H. Skuse 3 , F. Muntoni 2 1 Great Ormond Street Hospital & UCL Institute of Child Health, DUbowitz Neuromuscular Centre, London, United Kingdom; 2 UCL Insti- tute of Child Health, Dubowitz Neuromuscular Centre, London, United Kingdom; 3 UCL Institute of Child Health, Behavioural and Brain Sciences Unit, London, United Kingdom; 4 Catholic University, Paediatric Neurol- ogy, Rome, Italy Variable neurobehavioural disorders and IQ one SD below average are recognised comorbidities in Duchenne muscular dystrophy (DMD), reflecting the disrupted expression of different length dystrophin isoforms in the brain, based on the dystrophin gene mutation site. Following a screening of 84 DMD boys with validated questionnaires, we previously reported 15 with severe learning disability and 41 with scores predictive of autistic spectrum disorder (ASD). Attention deficit and hyperactivity disorder (ADHD) traits, conduct and emotional problems were also described. Overall, a higher proportion of boys affected had mutations towards the 3’ end of dystrophin. We performed targeted neuropsycholog- ical assessments including: Wechsler Intelligence Children Scale-IV (WISC-IV), Developmental Dimensional and Diagnostic Interview (3Di), Conners-3 Questionnaires, Child Behaviour Checklist (CBCL). We found marked unevenness of performance on the WISC-IV. Eight out of 12 boys had significant difference between verbal comprehension (VCI) and perceptual reasoning (PRI), with VCI more compromised. Eight out of 19 met criteria for ASD on the 3Di. In 5 boys with ASD the CBCL showed higher scores for internalising and externalising difficul- ties compared to non-ASD. There were associations between lower IQ and autistic social communication difficulties. On the Conners 6/17 boys met criteria for hyperactivity and 7 for inattention problems. There was a strong association between ASD and severe ADHD symptoms of hyperac- tivity (OR = 22.5) and inattention (OR = 54). There was a trend towards children with mutations towards the 3’ end of the gene, having a greater chance of ASD (OR = 3.4). In our on-going study, neurobehavioural dis- orders emerged as important facets in DMD, with confirmed ASD preva- lence rates much higher than the general population. Whilst further exploring the role of dystrophin in the brain, children with DMD should be provided with neurobehavioural-targeted support. http://dx.doi:10.1016/j.nmd.2012.06.278 S.P.61 Recurrent pseudo-obstruction and sigmoid volvulus in Duchenne Muscular Dystrophy: A case report V. Ricotti 1 , E. Engledow 2 , A. Emmanuel 2 , J. Knowles 2 , D. Walker 3 , P. Giordano 4 , A. Simonds 5 , M. Hanna 6 , R. Quinlivan 6 1 UCL Institute of Child Health, Dubowitz Neuromuscular Centre, London, United Kingdom; 2 University College London Hospitals, Division of Gastrointestinal services, London, United Kingdom; 3 University College London Hospitals, Department of Anaesthesia, London, United King- dom; 4 Whipps Cross University Hospital, Colorectal Department, London, United Kingdom; 5 The Royal Brompton Hospital, Respiratory Medicine Department, London, United Kingdom; 6 National Hospital for Neurology and Neurosurgery, MRC Centre for Neuromuscular Diseases, London, United Kingdom Dystrophin is expressed in the smooth muscle of the gastrointestinal tract (GIT). In Duchenne Muscular Dystrophy (DMD) a disruption of protein expression can lead to functional disturbances of the GIT includ- ing acute gastric dilatation, gastroparesis and intestinal pseudo-obstruc- tion. We report a case of a 24 year old young man with DMD confirmed by a nonsense mutation of intron 44, who developed sigmoid volvulus requiring multiple surgical interventions. Our patient presented with a long-standing history of abdominal bloating and constipation. These episodes, which were initially attributed to the use of night-time BiPAP, progressed into acute abdominal distension with visible large loop of bowels and peristalsis. He had no preceding history of vomiting or abdominal pain. Abdominal radiography showed a dilated sigmoid colon with features suggestive of volvulus. He had recurrent episodes of pseudo- obstruction over the course of two months, requiring several emergency sigmoidoscopy procedures to decompress obstructed bowel. An abdomi- nal CT scan with contrast confirmed significant pancolonic dilatation with volvulus. A definitive procedure was deemed necessary and he underwent subtotal colectomy with ileostomy and gastrostomy insertion. One week later he developed acute gastric necrosis, requiring total gastrectomy and oesophago-jejunostomy. His post-operative course was aggravated by a peritonitis necessitating a third emergency laparotomy with drainage of the peritoneum. Post-operatively he remained in ICU fully ventilated with a tracheostomy in situ and total parenteral nutrition. Echocardiogra- phy showed a moderately impaired systolic function. Our case illustrates that GIT functional disturbances may be serious sequelae in DMD. Non-invasive ventilation and use of steroids can be confounders for underlying GIT dysmotility. Young adults with DMD, who present with Abstracts / Neuromuscular Disorders 22 (2012) 804–908 887