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SLEEP DISORDERS Advisory Board Antonio Culebras, M.D. Professor of Neurology Upstate Medical University Consultant, The Sleep Center Community General Hospital Syracuse, New York, U.S.A. Anna Ivanenko, M.D., Ph.D. Loyola University Medical Center Department of Psychiatry and Behavioral Neuroscience Maywood, Illinois, U.S.A. Clete A. Kushida, M.D., Ph.D., RPSGT Director, Stanford Center for Human Sleep Research Associate Professor, Stanford University Medical Center Stanford University Center of Excellence for Sleep Disorders Stanford, California, U.S.A. Nathaniel F. Watson, M.D. University of Washington Sleep Disorders Center Harborview Medical Center Seattle, Washington, U.S.A. 1. Clinician’s Guide to Pediatric Sleep Disorders, edited by Mark A. Richardson and Norman R. Friedman 2. Sleep Disorders and Neurologic Diseases, Second Edition, edited by Antonio Culebras Sleep Disorders and Neurologic Diseases SECOND EDITION Edited by Antonio Culebras Community General Hospital and Upstate Medical University Syracuse, New York, U.S.A. Informa Healthcare USA, Inc. 270 Madison Avenue New York, NY 10016 © 2007 by Informa Healthcare USA, Inc. Informa Healthcare is an Informa business No claim to original U.S. Government works Printed in the United States of America on acid-free paper 10 9 8 7 6 5 4 3 2 1 International Standard Book Number-10: 0-8493-4324-0 (Hardcover) International Standard Book Number-13: 978-0-8493-4324-7 (Hardcover) This book contains information obtained from authentic and highly regarded sources. Reprinted material is quoted with permission, and sources are indicated. A wide variety of references are listed. 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Trademark Notice: Product or corporate names may be trademarks or registered trademarks, and are used only for identification and explanation without intent to infringe. Visit the Informa Web site at www.informa.com and the Informa Healthcare Web site at www.informahealthcare.com To my wife, Susan, and my daughters, Katerina and Andrea, who felt the absences and enjoyed the successes with the same intensity that I did. B Foreword Sleep is the least understood third of our lives. From its prenatal inception to its ultimate demise, basic questions persist at all stages. We know that sleep represents an important phase in brain function, but we know much less about possible circadian variability in the activity of pathophysiological processes affecting the brain. For example, we have some idea about how sleep apnea may impact brain function, but we have no clue, yet, whether so-called silent brain infarcts occur predominantly in sleep and, if so, why and how. Fortunately, interest, research, and overall activity in somnology is surging. As this comprehensive book illustrates, a number of specialties are converging to deal with the increasingly recognized problems associated with sleep disorders. Neurosomnology emerges as a distinct subspecialty of neurology, with its attendant professional organizations, certifications, and, eventually, formal training programs. A number of distinguished investigators and practitioners of sleep medicine contributed to this volume. Although the basics of normal sleep development, func- tion, and dysfunction receive their due, the emphasis remains decidedly clinical. Not only neurologists, but pediatricians, internists, pulmonologists, endocrinolo- gists, psychiatrists, and all those dealing with sleep disorders will find parts intrin- sically interesting and applicable in practice. This book deserves a wide readership. The readers and their patients will benefit. Vladimir Hachinski, MD, FRCPC, DSc Distinguished University Professor Department of Clinical Neurological Sciences Schulich School of Medicine and Dentistry University of Western Ontario London, Ontario, Canada v B Preface Sleep is a function of the brain. However, the ultimate physiological function of sleep remains enigmatic and unknown despite recent extensive research of this ubiquitous and important brain activity. Sleep intervenes in functions of somatic growth, regeneration, and memory. Sleep is important in medicine because it modulates quality of life, while its disorders provoke family pathology, disturb work routines, alter social activities, and, in general, affect the health of the individual (1). Sleep medicine is a unique specialty with input from diverse areas of the medical sciences. Neurology, pulmonary, cardiology, pediatrics, psychiatry, otorhi- nolaryngology, and even dental medicine have important contributions to make. This diversity is the backbone of sleep medicine. But sleep medicine is branching out and it is clear that sleep, being a function of the brain, suffers dysfunctions that are distinctly neurological. Conditions such as epilepsy with expression only in sleep, neuromuscular disorders masquerading as sleep apnea, parasomnias mimicking seizure disorders, intrinsic hypersomnias with definite brain pathophys- iology, sleep alterations in Parkinson’s disease, the risk of stroke in sleep, the organic insomnias, the emerging autonomic dysfunctions of sleep, and so many other unique neurological disturbances can only be evaluated, studied, diagnosed, and managed with comfort by neurologists with special expertise in sleep dis- orders. Non-neurological physicians with a title of “sleep specialist” may not have sufficient training to tackle the above conditions, despite a sleep diploma or certificate, and will value having immediate access to this important segment of sleep medicine in the form of a book. The subspecialty of neurosomnology will eventually emerge with strength comparable to that of other subspecialties in neurology. The consequence is that sleep centers may be compelled to add specialized neurosomnology, for which they will need a neurosomnologist on staff. Eventually, clinical neurosomnology will become a subspecialty of sleep medicine and neurology to incorporate all that is new, unique, and only available in the neurology of sleep. This book serves as a reference for those who practice sleep medicine and encounter neurological pathology. The non-neurologist will value the special information contained herein, and the neurologist will find updated clinical science in their area of expertise. The chapters have a clinical orientation; pro- cedural aspects and laboratory tests are not addressed, except where important to enhance the understanding of clinical manifestations. Some topics are covered in more than one chapter, not by accident but by design. This should not be viewed as duplication but rather a way of presenting diverse views of the same topic. The authors are prestigious clinical neuroscientists with an international name in the field of sleep medicine. They were invited to update work presented in the first edition (2) or to collaborate with new information developed since vii viii Preface this book was initially published only a few years ago. All collaborators have dili- gently compiled their chapters despite multiple other obligations and should be commended for their excellent work. Antonio Culebras, MD REFERENCES 1. Culebras A, ed. Clinical Handbook of Sleep Disorders. Boston: Butterworth-Heinemann publishers, 1996. 2. Culebras A, ed. Sleep Disorders and Neurological Disease. First edition. New York: Marcel Dekker, Inc publishers, 2000. B Contents Foreword Vladimir Hachinski .... v Preface . vii Contributors . xiii PART I: INTRODUCTION 1. Concept of Sleep Medicine and of Neurosomnology 1 Antonio Culebras PART II: INFANCY AND DEVELOPMENT 2. Disorders of Development and Maturation of Sleep 7 Stephen H. Sheldon 3. Sleep Disorders Associated with Mental Retardation 27 Michael J. Rack PART III: INSOMNIA AND CIRCADIAN DYSRHYTHMIAS 4. Insomnia in Neurology 39 Federica Provini, Carolina Lombardi, and Elio Lugaresi 5. Delayed Sleep Phase Disorder and Other Circadian Rhythm Sleep Disorders 53 Baruch El-Ad PART IV: NARCOLEPSY AND OTHER HYPERSOMNIAS 6. Narcolepsy 83 Claudio L. Bassetti 7. Secondary Narcolepsy 117 Thomas E. Scammell 8. Hypocretin—Hypothalamic System 135 Christian R. Baumann and Claudio L. Bassetti 9. Idiopathic Hypersomnia and Recurrent Hypersomnia 143 Douglas B. Kirsch and Ronald D. Chervin ix x Contents PART V: MOTOR DISORDERS OF SLEEP 10. Motor Disorders of Sleep: Periodic, Aperiodic, and Rhythmic Motor Disorders 157 Roberto Vetrugno and Pasquale Montagna 11. Restless Legs Syndrome 171 Renata Egatz, Belen Cabrero, and Diego Garcia-Borreguero 12. Periodic Leg Movements of Sleep 193 Diego Garcia-Borreguero, Oscar Larrosa, and Renata Egatz 13. Sleep in Parkinson’s Disease 205 Robert