Principles and Practice of Sleep Medicine

The French neurologist Georges Gilles de la Tourette first described this syndrome, which consists of motor tics sometimes accompanied by uncontrollable noises or utterances, attention-deficit–hyperactivity disorder, obsessive–compulsive disorder, and poor impulse control. Although the pathogenesis of the disorder remains obscure, tics may be treated effectively with haloperidol or pimozide, and other clinical features may also respond to pharmacologic therapy.

Tourette's Syndrome

Summary Tourette's syndrome (TS) is a chronic neuropsychiatric disorder characterised by motor and vocal tics. Diagnosis is based solely on clinical criteria. The prevalence of this syndrome is estimated to be between one and ten per 1000 children and adolescents and the outcome is generally favourable; most patients improve by their late teens or early adulthood. Affected individuals are at increased risk of various comorbid neurobehavioural problems, the negative effects of which commonly exceed those of tics. Despite evidence that TS is an inherited disorder, the exact genetic abnormality is unknown. Environmental factors might have an important role in the expression of tics, and a poststreptococcal autoimmune cause has been proposed but is unproven. Brain imaging, neurophysiological, and post-mortem studies support involvement of cortical–striatal–thalamocortical pathways, but the definitive pathophysiological mechanism or neurotransmitter abnormality is unknown. Recent evidence, however, suggests a prefrontal dopaminergic abnormality. Traditional neuroleptics are the standard treatment for TS, but there is increasing interest in non-neuroleptic drugs, behavioural therapies, and surgical approaches.

Tourette's syndrome: from behaviour to biology.

To develop a guide to clinical assessment and pharmacotherapy for children and adults with Tourette syndrome (TS), we reviewed published literature over the past 25 years to identify original articles and reviews on the assessment and pharmacological treatment of Tourette syndrome, attention—deficit/hyperactivity disorder (ADHD) and obsessive—compulsive disorder (OCD). The literature search also included a survey of reviews published in book chapters. The assessment section was compiled from several reviews. Pharmacological treatments were classified into those with strong empirical support (as evidenced by two positive placebo-controlled studies for tics, OCD, or ADHD in TS samples); modest empirical support (one positive placebo-controlled study), or minimal support (open-label data only). We conclude that accurate diagnosis, including identification of comorbid conditions, is an essential step toward appropriate treatment for patients with TS. In many patients with TS, symptom management requires pharmacotherapy for tics or coexisting conditions. The evidence supporting efficacy and safety for medications used in patients with TS varies. But this evidence offers the best guide to clinical practice.

https://link.springer.com/content/pdf/10.1016%2Fj.nurx.2006.01.009.pdf

Contemporary Assessment and Pharmacotherapy of Tourette Syndrome

Background: Monitoring brain processes in real time requires genuine subsecond resolution to follow the typical timing and frequency of neural events. Non-invasive recordings of electric (EEG/ERP) and magnetic (MEG) fields provide this time resolution. They directly measure neural activations associated with a wide variety of brain states and processes, even during sleep or in infants. Mapping and source estimation can localise these time-varying activation patterns inside the brain. Methods: Recent EEG/ ERP research on brain functions in the domains of attention and executive functioning, perception, memory, language, emotion and motor processing in ADHD, autism, childhood-onset schizophrenia, Tourette syndrome, specific language disorder and developmental dyslexia, anxiety, obsessivecompulsive disorder, and depression is reviewed. Results: Over the past two decades, electrophysiology has substantially contributed to the understanding of brain functions during normal development, and psychiatric conditions of children and adolescents. Its time resolution has been important to measure covert processes, and to distinguish cause and effect. Conclusions: In the future, EEG/ERP parameters will increasingly characterise the interplay of neural states and information processing. They are particularly promising tools for multilevel investigations of etiological pathways and potential predictors of clinical treatment response. Keywords: ADHD, anorexia nervosa, anxiety, autism, childhood-onset schizophrenia, depression, developmental dyslexia, EEG, endophenotypes, ERP, fMRI, neuropsychology, obsessive-compulsive disorder, specific language disorder, tic disorder. Abbreviations: ACC: anterior cingulate gyrus; ADHD: attention deficit hyperactivity disorder; ASD: autism spectrum disorder; BOLD: blood-oxygen-level-dependent; CNV: contingent negative variation; COMT: CatecholO-methyltransferase; CPT A-X: (cued) continuous performance test A-X (type); CHRM2: cholinergic receptor, muscarinic 2; DRD2: D2 receptor gene; EEG: electroencephalogram; ERN: error-related negativity; ERP: event-related potential; fMRI: functional Magnetic Resonance Imaging; GABRA2: GABA-A receptor gene; LDAEP: loudness-dependent amplitude change of auditory evoked ERP; MDD: major depressive disorder; MEG: magnetoencephalogram; MMN: mismatch negativity; NIRS: Near Infrared Spectroscopy; PET: Positron Emission Tomography; REM: rapid eye movement; RP: readiness potential (or Bereitschaftspotential); SSRI: selective serotonine reuptake inhibitor. Electrophysiological and magnetencephalographic methods allow non-invasive monitoring of brain processes in real time. Their supreme time resolution captures even fast neural events and highfrequency oscillations, and permits functional brain imaging at millisecond resolution through source analysis of high density maps. As a consequence, they can directly measure the full spatio-temporal dynamics of neural activation (see: methodological section) associated with a wide variety of cognitive processes and their development, and can be used repeatedly without problems in longitudinal studies and even during sleep or in infants (for reviews see: Picton et al., 2000; Picton & Hillyard, 1988; Taylor & Baldeweg, 2002). Over the past two decades, electrophysiology has increasingly been used for investigating the biological substrates of psychiatric disorders.

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Annotation: What electrical brain activity tells us about brain function that other techniques cannot tell us – a child psychiatric perspective

OBJECTIVE—Sleep quality and movement patterns across sleep stages in patients with Tourette's syndrome were examined to determine the influence of syndrome severity on sleep quality and the differential effect of sleep stages on tic and non-tic movements.
METHODS—Twenty five patients with Tourette's syndrome (mean age 29 (SD 7) years) and 11 control subjects (29 (5) years) were studied by polysomnography and simultaneous split screen video monitoring to record standard sleep variables as well as to evaluate movements to differentiate between tics and regular movements. Severity of Tourette's syndrome during the day was assessed with the Tourette's syndrome severity scale.
RESULTS—Sleep was significantly more disturbed in patients with Tourette's syndrome than in controls, with decreased sleep efficiency and slow wave sleep percentage, increased sleep latency, percentage of stage I, percentage of awakeness, number of awakenings, and sleep stage changes and more overall movements during sleep. Severity of Tourette's syndrome during the day correlated significantly and positive with number of awakenings and sleep stage changes and negatively with sleep efficiency. In addition to an increased number of regular movements patients had tics in all sleep stages. Tic frequency as well as frequency of regular movements was significantly higher in REM than in non-REM sleep which was also the case for regular movements of the controls. No disturbance of either REM sleep percentage or REM latency was found.
CONCLUSION—Despite normal total sleep time and unaltered REM sleep variables patients with Tourette's syndrome have markedly disturbed sleep. Severity of the syndrome during the day is an important predictor of sleep alteration in patients. The increased rate of tics during REM sleep parallels the overall increased movement activity of patients during REM as well as non-REM sleep. The increased motor activity may be attributable to a state of hyperarousal rather than a disturbed cholinergic system.

https://jnnp.bmj.com/content/jnnp/70/2/192.full.pdf

Decreased sleep quality and increased sleep related movements in patients with Tourette's syndrome.

Sleep and Tourette syndrome.

Bisher ist nicht eindeutig geklart, ob Tics im Schlaf auftreten und wenn ja, ob sie sich ir Form, Intensitat und Haufigkeit vom Wachzustand unterscheiden. Auch weis man bisher nicht, in welchem pathophysiologischen Zusammenhang (d. h. an Tics gebunden oder unabhangig davon) die berichteten Schlafstorungen (30–40%) der Patienten mit Tourette-Syndrom (TS) zu sehen sind. Es erscheint daher angeraten, die Sachverhalte sowie die daraus abzuleitende klinische Bedeutung des Schlafverhaltens von Kindern mit TS zu untersuchen.

Tatiana Kostanecka

Papers

Decreased sleep quality and increased sleep related movements in patients with Tourette's syndrome.

Sleep and Tourette syndrome.

Tourette-Syndrom und Schlaf im Kindesalter