Tourette syndrome
Tourette's was once regarded as a rare and bizarre syndrome and has popularly been associated with coprolalia (the utterance of obscene words or socially inappropriate and derogatory remarks).There are no specific tests for diagnosing Tourette's; it is not always correctly identified, because most cases are mild, and the severity of tics decreases for most children as they pass through adolescence.[20] Older versions of the ICD called it "combined vocal and multiple motor tic disorder [de la Tourette]".People describe the urge to express the tic as a buildup of tension, pressure, or energy[28][29] which they ultimately choose consciously to release, as if they "had to do it"[30] to relieve the sensation[28] or until it feels "just right".[36] Complex motor tics include copropraxia (obscene or forbidden gestures, or inappropriate touching), echopraxia (repetition or imitation of another person's actions) and palipraxia (repeating one's own movements).[39] In people with TS, the first tics to appear usually affect the head, face, and shoulders, and include blinking, facial movements, sniffing and throat clearing.They are faster than average for their age on timed tests of motor coordination, and constant tic suppression may lead to an advantage in switching between tasks because of increased inhibitory control.[13][14][65] Genetic epidemiology studies have shown that Tourette's is highly heritable,[66] and 10 to 100 times more likely to be found among close family members than in the general population.[69][70] A few rare highly penetrant genetic mutations have been found that explain only a small number of cases in single families (the SLITRK1, HDC, and CNTNAP2 genes).[72] Its potential effect is described by the controversial[72] hypothesis called PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections), which proposes five criteria for diagnosis in children.[73][74] PANDAS and the newer pediatric acute-onset neuropsychiatric syndrome (PANS) hypotheses are the focus of clinical and laboratory research, but remain unproven.These circuits connect the basal ganglia with other areas of the brain to transfer information that regulates planning and control of movements, behavior, decision-making, and learning.[14] The release of dopamine in the basal ganglia is higher in people with Tourette's, implicating biochemical changes from "overactive and dysregulated dopaminergic transmissions".[91] The DSM has recognized since 2000 that many individuals with Tourette's do not have significant impairment;[7][86][92] diagnosis does not require the presence of coprolalia or a comorbid condition, such as ADHD or OCD.[89] The abnormal movements associated with choreas, dystonias, myoclonus, and dyskinesias are distinct from the tics of Tourette's in that they are more rhythmic, not suppressible, and not preceded by an unwanted urge.[96][97] The stereotyped movements associated with autism typically have an earlier age of onset; are more symmetrical, rhythmical and bilateral; and involve the extremities (for example, flapping the hands).[104][105] A thorough evaluation for comorbidity is called for when symptoms and impairment warrant,[88][89] and careful assessment of people with TS includes comprehensive screening for these conditions.Pharmacological intervention is reserved for more severe symptoms, while psychotherapy or cognitive behavioral therapy (CBT) may ameliorate depression and social isolation, and improve family support.[35] The decision to use behavioral or pharmacological treatment is "usually made after the educational and supportive interventions have been in place for a period of months, and it is clear that the tic symptoms are persistently severe and are themselves a source of impairment in terms of self-esteem, relationships with the family or peers, or school performance".[120] Behavioral therapies using habit reversal training (HRT) and exposure and response prevention (ERP) are first-line interventions in the management of Tourette syndrome,[20][116] and have been shown to be effective.[14] Complementary and alternative medicine approaches, such as dietary modification, neurofeedback and allergy testing and control have popular appeal, but they have no proven benefit in the management of Tourette syndrome.[4] Deep brain stimulation (DBS) has become a valid option for individuals with severe symptoms that do not respond to conventional therapy and management,[65] although it is an experimental treatment.[141] Factors impacting quality of life change over time, given the natural fluctuating course of tic disorders, the development of coping strategies, and a person's age.[46] A French doctor, Jean Marc Gaspard Itard, reported the first case of Tourette syndrome in 1825,[153] describing the Marquise de Dampierre, an important woman of nobility in her time.[154][155] In 1884, Jean-Martin Charcot, an influential French physician, assigned his student[156] and intern Georges Gilles de la Tourette, to study patients with movement disorders at the Salpêtrière Hospital, with the goal of defining a condition distinct from hysteria and chorea.[157] In 1885, Gilles de la Tourette published an account in Study of a Nervous Affliction of nine people with "convulsive tic disorder", concluding that a new clinical category should be defined.[96][162] The turning point came in 1965, when Arthur K. Shapiro—described as "the father of modern tic disorder research"[163]—used haloperidol to treat a person with Tourette's, and published a paper criticizing the psychoanalytic approach.[115][167] The researchers Leckman and Cohen believe that there may be latent advantages associated with an individual's genetic vulnerability to developing Tourette syndrome that may have adaptive value, such as heightened awareness and increased attention to detail and surroundings.[178] Likely portrayals of TS or tic disorders in fiction predating Gilles de la Tourette's work are "Mr. Pancks" in Charles Dickens's Little Dorrit and "Nikolai Levin" in Leo Tolstoy's Anna Karenina.[185] Research since 1999 has advanced knowledge of Tourette's in the areas of genetics, neuroimaging, neurophysiology, and neuropathology, but questions remain about how best to classify it and how closely it is related to other movement or psychiatric disorders.