Abstracts / Sleep Medicine 14S (2013) e165–e238
usefull for screening. Adding the other two questions led to increase in specificity, but at the costs of losing some patients. Such approach is encouraged e.g. in genetic studies, where including a false positive patient may lead to distortion of the result. Acknowledgements: Supported by grant IGA-NT 12141–3 and MSM 0021620849. http://dx.doi.org/10.1016/j.sleep.2013.11.561
MacDonald Critchley’s description of Ekbom’s syndrome in 1955 with a reference to Thomas Willis J. Poceta Scripps Clinic, Division of Neurology and Sleep Medicine, United States
Introduction: There are at least a few different threads of knowledge that weave the tapestry we now call Willis-Ekbom Disease, also known as Restless Legs Syndrome. Materials and methods: The awareness of WED/RLS as a specific medical condition has a hazy origin. In the modern literature KarlAxel Ekbom described the condition in 1944 in Acta medica Scandinavia in the article ‘‘Asthenia crurum paraesthetica (irritable legs)’’. This was followed in 1945 with a detailed case series in the form of a thesis or monograph entitled ‘‘Restless Legs’’, and in 1950 another 70 cases were added. In 1960 he wrote ‘‘Restless legs syndrome’’ in Neurology and the condition was fully exposed to American neurologists. Ekbom referred to the condition as ‘‘an earlier overlooked disorder,’’ or ‘‘a disease, or rather a syndrome. . .which has not been described previously,’’ or ‘‘a hitherto overlooked disease characterized by peculiar paresthesia.’’ However, he was able to find in the literature some cases that were possibly the same condition. Owing to World War II and what he refers to as ‘‘difficulty with communication,’’ many British texts were not available to him. He references Theodor Wittmack in 1861 (Germany) who described a patient and called the ailment ‘‘anxietas tibiarum.’’ Bing in 1913 (Germany) also used this term, but Ekbom did not believe that the two cases were the same condition. He was also aware of a 1936 report of Code and Allen (USA) describing three cases of ‘‘neurosis involving the legs.’’. Results: The parallel thread, which was unknown to Ekbom, jumps to the British neurologist MacDonald Critchley in 1955. In that year he wrote an article in Revue Neurologique entitled ‘‘The Pre-dormitum’’ in which he describes several of the features of the transition from wake to sleep, including Ekbom’s syndrome. As far as I can find, this paper was the first to acknowledge that Thomas Willis described a case of RLS in 1695 (actually 1685) in The London Practice of Physik. This reference was later cited by Ekbom in his 1960 paper and by Lugaresi in his 1965 paper on PLMS in patients with RLS. Conclusion: We owe a debt of gratitude to MacDonald Critchley for keeping alive the knowledge about RLS from Thomas Willis–one of a far earlier generation of British physicians–to the modern times. His description of a patient with RLS is also unique and wonderful; befitting of one of the world’s great medical minds and authors. This description—which indirectly includes the four modern diagnostic criteria–is reproduced in this poster presentation. Acknowledgement: The works of Macdonald Critchley; Google Books.
e233
2
Local Health Trust, Bologna, Department of Primary Care, Italy University of Bologna, Department of Biomedical and NeuroMotor Sciences, IRRCS Institute of Neurological Sciences, Italy 3
Introduction: Sleep assessment in suspected sleep related violence (SRV) and sleep-related abnormal sexual behaviour (SRASB) cases is mandatory. When such behaviours are suspected or purported to have caused a criminal offence (i.e. assault, attempted murder, murder, sexual assaults) sleep experts asked to provide report/testimony relied on previous forensic cases as a valuable source of information. We aimed at analyzing reported forensic cases of SRV and SRASB to investigate if they provided information about a minimal set of medical-legal key elements. Materials and methods: Systematic review was performed searching MEDLINE and PSYCHINFO databases from January 1980 through December 2012. One expert in legal medicine and two experts in sleep medicine reviewed all reports to assess whether they provided information about 15 key elements grouped in four categories: (1) legal issues (charge, defense, verdict); (2) defendant and victim characteristics (sex, age, relationship); (3) circumstantial factors (timing of the event, proximity, psychophysical condition of the defendant at the time of the event); and (4) forensic evaluation (clinical sleep assessment, polysomnography (PSG), PSG findings, other medical evaluations). Results: Out of 624 retrieved references we included 35 reports (19 SRV and 16 SRASB), ranging from single case reports to case series up to summaries of legal cases. The number of provided key elements ranged from 4 to 14. The most frequently reported were the defendant’s sex and the relation with the victim (97%), while the less frequent were PSG (37%) and PSG findings (29%). In average, legal issues were provided in 84% of reports, defendant and victim characteristics in 74%, circumstantial factors in 77%, and forensic evaluation in 47%. Conclusion: Criminal trials involving SRV and SRASB are rare. In this light, exhaustive reporting is essential. This is the first attempt to analyze the information provided by published SRV/SRASB forensic cases. We disclosed that a minimal set of medical-legal key elements was never provided. While information about legal issue is frequently provided, the lack of key elements concerning defendant and victim characteristics, circumstantial factors and especially forensic evaluation weakens the forensic relevance and the scientific interest of many reports. Improving the quality of reports of forensic cases of SRV/SRABS would provide essential information for sleep medicine experts called for forensic evaluation and a homogeneous body of data for scientific research. http://dx.doi.org/10.1016/j.sleep.2013.11.563
Influence of cytochrome P450 and ABCB1 genetic polymorphisms on drug efficacy in narcolepsy with cataplexy F. Poli 1, M. Moresco 1, L. Riccardi 1, G. Plazzi 2, F. Ingravallo 1, S. Pelotti 1 1 Forensic Medicine, Department of Medical and Surgical Sciences, University of Bologna, Italy 2 Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy
http://dx.doi.org/10.1016/j.sleep.2013.11.562
Sleep forensic case reports F. Ingravallo 1, F. Poli 1, L. Vignatelli 2, F. Pizza 3, G. Plazzi 3 1 University of Bologna, Department of Medical and Surgical Sciences, Italy
Introduction: Treatments for narcolepsy-cataplexy (NC) are so far only symptomatic and aim to reconsolidate sleep and waking states as well as cataplexy attacks. The patients’ clinical response is influenced by a high interindividual variability. This leads, in clinical practice, to an empirical case-by- case management, mainly based