Spotlight on Fatal familial insomnia

Fatal familial insomnia is a prion disease characterized by loss of sleep, oneiric stupors with dream enactment, autonomic activation, and somatomotor abnormalities. The latter may include diplopia, pyramidal signs, myoclonus, dysarthria or dysphagia, and ataxia. PET shows marked thalamic hypometabolism, and neuropathology invariably reveals a moderate to severe neuronal loss and gliosis in the anteromedial thalamic and inferior olivary nuclei. The disease is usually linked to the D178N mutation in the PRNP gene co-segregating with methionine at the polymorphic codon 129. However, sporadic cases of fatal insomnia, lacking the PRNP mutation, may also occur. Fatal familial insomnia represents a model disease for the study of sleep, emphasizing the role of the thalamo-limbic circuits in sleep regulation.

In this article, Dr. Piero Parchi, Dr. Samir Abu-Rumeileh, and Dr. Pietro Cortelli of the University of Bologna discusses the manifestations and diagnosis of fatal familial insomnia.

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Spotlight on Sleep-related movement disorders

Movement disorders are classically thought to resolve during sleep. Sleep-related movement disorders, however, are a subset that are characterized by their presence in sleep.

In this article, Dr. Lauren Talman and Dr. Stephanie Bissonnette of Boston Medical Center discuss these sleep-related movement disorders based on the International Classification of Sleep Disorders-3rd Edition (ICSD-3). These disorders include restless legs syndrome, periodic limb movement disorder, sleep-related leg cramps, sleep-related bruxism, sleep-related rhythmic movement disorder, benign sleep myoclonus of infancy, propriospinal myoclonus at sleep onset, sleep-related movement disorders due to medical disorders, and sleep-related movement disorders due to medication or other substance.

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Spotlight on Psychophysiological insomnia

The essence of psychophysiological insomnia is the focused attention on inability to sleep. Psychophysiological insomnia usually begins as a somaticized response to a stressful event and then, depending on genetic and other environmental variables, becomes a more chronic condition because of negative conditioning. This form of insomnia occurs in 1% to 2% of the general population and 12% to 15% of patients presenting to a sleep disorders center.

Three types of factors play a role in the development of psychophysiological insomnia: (1) predisposing or constitutional factors, eg, the tendency to worry excessively and the tendency to be hyperaroused; (2) precipitating factors, eg, a transient stressor; and (3) perpetuating factors, eg, the individual’s expectation of a poor night’s sleep that becomes a self-fulfilling prophecy.

In this article, Dr. Deirdre Conroy of the University of Michigan discusses diagnosis, complications, and treatment of psychophysiological insomnia. Updates include new information regarding the pathophysiology and unique electroencephalogram characteristic of psychophysiological insomnia. Dr. Conroy also discusses additional data to support cognitive behavioral therapy for insomnia as first-line treatment for psychophysiological insomnia.

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Spotlight on Sleep, trauma, and anxiety

Psychiatric disorders associated with anxiety and autonomic arousal, such as trauma-based disorders and anxiety disorders, are well known to be associated with a variety of sleep complaints, most commonly insomnia and nightmares. A review of trauma-based disorders such as posttraumatic stress disorder and anxiety disorders, including generalized anxiety disorder, panic disorder, and specific and social phobia are provided, along with typical subjective and objective sleep profiles.

In this article, Dr. Rebekah Jakel of Duke University discusses the bidirectional relationship between anxiety symptoms and sleep and highlights studies examining the role of sleep disturbances in the development and exacerbation of such disorders, particularly posttraumatic stress disorder.

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Spotlight on Sleep and depression

Sleep disturbances are common in psychiatric disorders. The relationship between poor sleep and depression is well established. Epidemiologic data suggest that people with psychiatric disorders account for 30% to 40% of those in a community reporting symptoms of insomnia and that depression is the most common psychiatric cause of insomnia. Depression is associated with longer sleep latency, frequent and long awakenings, and early morning awakening associated with poor sleep satisfaction. Sleep disturbance associated with depression sometimes responds to treatment of the underlying depression. Some antidepressants, such as mirtazapine, directly improve sleep quality. Unfortunately, most antidepressants, including the selective serotonin reuptake inhibitors and duloxetine, have the side effect of insomnia. Adjunctive medication is often necessary to treat depression- or antidepressant-associated insomnia.

In this article, Dr. Federica Provini of the University of Bologna and IRCCS Institute of Neurological Sciences of Bologna discusses the evaluation and treatment of sleep disorders associated with depression.

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Spotlight on Lennox-Gastaut syndrome

In this article, Dr. Mary Spiciarich and Dr. Solomon Moshe of Albert Einstein College of Medicine discuss Lennox-Gastaut syndrome, which is diagnosed in individuals with intractable epilepsy characterized by multiple seizure types, slow spike-wave pattern on EEG, and cognitive deterioration typically after first seizure onset. Seizure types include tonic seizures that mainly occur in sleep, atonic seizures, atypical absences, and myoclonic seizures. The condition may follow West syndrome but has also been associated with various genetic and neurocutaneous syndromes, metabolic diseases, and early infectious or ischemic insults or may have an unknown etiology. Numerous interventions as well as medications have been studied in treating this condition. Clobazam has been studied in controlling drop attacks and cannabidiol is being researched as an adjunctive antiepileptic agent in patients with Lennox-Gastaut syndrome and other intractable epilepsy syndromes.

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Spotlight on Sleep and mental disorders

In this article, Dr. Rebekah Jakel of Duke University reviews the role of sleep symptomatology in psychiatric disorders and sleep conditions that are associated with psychiatric disorders, including affective, anxiety, and psychotic disorders. Sleep disturbances are common in individuals who are experiencing psychiatric illness and are included in the diagnostic criteria of many of the affective and anxiety disorders. Sleep symptoms may hinder response to treatment and frequently persist after treatment of psychiatric conditions, increasing the risk of relapse. Thus, clinical attention to sleep disturbances during acute and maintenance treatment of psychiatric conditions is important.

The author discusses general treatments for the management of sleep disturbances experienced in the context of psychiatric illness, including cognitive behavioral therapy for insomnia and its effects on insomnia comorbid with psychiatric conditions.

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Spotlight on Sleep and medical disorders

The understanding of sleep has received revitalized attention in recent years due to increasing recognition of the involvement of sleep disorders in numerous medical conditions. In this article, Dr. Jocelyn Cheng and Dr. Abhinav Ohri of NYU Comprehensive Epilepsy Center discuss advances in this rapidly growing field and summarize the interactions between sleep disorders and medical illnesses, focusing on the impact of medical illness on sleep. The bidirectional relationship between medical illnesses and sleep disorders is also discussed.

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Spotlight on Hypersomnolence

Hypersomnolence is deleteriously prevalent, especially in modern society. The common medical complaint has various underpinnings. Sleep medicine, as a growing field or subspecialty, can evaluate the nature of the problem and improve life and longevity with a myriad of scientifically effective interventions. The cost to society, if sleepiness is left unaddressed, is profound given the negative effects on health and on education and on work-related issues, including workableness and propensity toward accidents and clashes.

Hypersomnolence, or excessive daytime sleepiness, is a frequent complaint of patients and a symptom associated with many medical conditions, including intrinsic sleep disorders, such as narcolepsy and obstructive sleep apnea or insufficient nighttime sleep. Though a nearly universal experience, sleepiness is often ignored or minimized by patients, often increasing their risk for industrial or motor vehicle accidents.

In this article, Dr. Richard Knudsen of University of California Davis Medical Center discusses the differential diagnosis, evaluation, and treatment of this often overlooked symptom complex. Information from the International Classification of Sleep Disorders (3rd edition) is highlighted. Newer therapeutic agents, deemed somnolytics, are reviewed.

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Spotlight on Sleep and cerebral degenerative disorders

In this article, Dr. Raman Malhotra, Co-Director of the SLUCare Sleep Disorders Center at Saint Louis University School of Medicine and Dr. Alon Avidan of the University of California, Los Angeles discuss the connections between sleep and cerebral degenerative disorders. Degenerative diseases of the central nervous system are a large and varied group of disorders that affect a range of neurologic function. Sleep disorders are commonly seen in patients with cerebral degenerative diseases. Much of this may be related to the underlying central nervous system damage to sleep regulatory centers of the brain. Research has shown that sleep disorders may serve as a biomarker to predict development of a future neurodegenerative disorder. Increasing new data has suggested that disrupted sleep may accelerate the degenerative process in conditions such as Alzheimer dementia and Parkinson disease. One potential mechanism is emerging evidence of the role of sleep in glymphatic clearance of metabolic waste products from the brain. Prompt attention to and treatment of sleep symptoms can result in significant improvement in quality of life or possibly delay in progression of disease.

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