History of Tourette syndrome – Wikipedia, the free encyclopedia

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Tourette syndrome is an inherited neurological disorder with onset in childhood, characterized by the presence of multiple physical (motor) tics and at least one vocal (phonic) tic.[1]

The eponym was bestowed by Jean-Martin Charcot (1825–93) on behalf of his resident, Georges Albert Édouard Brutus Gilles de la Tourette (1859–1904), a French physician and neurologist, who published an account of nine patients with Tourette’s in 1885. The possibility that movement disorders, including Tourette syndrome, might have an organic origin was raised when an encephalitis epidemic from 1918–1926 led to a subsequent epidemic of tic disorders. Research in 1972 advanced the argument that Tourette’s is a neurological, rather than psychological, disorder; since the 1990s, a more neutral view of Tourette’s has emerged, in which biological vulnerability and adverse environmental events are seen to interact.

Findings since 1999 have advanced TS science in the areas of genetics, neuroimaging, neurophysiology, and neuropathology. Questions remain regarding how best to classify Tourette syndrome, and how closely Tourette’s is related to other movement disorders or psychiatric disorders. Good epidemiologic data is still lacking, and available treatments are not risk free and not always well tolerated.

Contents

[edit] Nineteenth century

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Jean-Martin Charcot (1825–1893) was a French neurologist and professor who bestowed the eponym for Tourette syndrome on behalf of his resident, Georges Albert Édouard Brutus Gilles de la Tourette. Charcot is shown here during a lesson with a “hysterical” woman patient at the Salpêtrière hospital.

The first presentation of Tourette syndrome is thought to be in a 1489 book, Malleus maleficarum (“Witch’s hammer”) by Jakob Sprenger and Heinrich Kraemer, describing a priest whose tics were “believed to be related to possession by the devil”.[2] A French doctor, Jean Marc Gaspard Itard, reported the first case of Tourette syndrome in 1825,[3] describing Marquise de Dampierre, an important woman of nobility in her time, whose episodes later understood to be coprolalia “were obviously in stark contrast to the lady’s background, intellect, and refined manners”.[4]

Jean-Martin Charcot, an influential French physician, assigned his resident Georges Albert Édouard Brutus Gilles de la Tourette, a French physician and neurologist, to study patients at the Salpêtrière Hospital, with the goal of defining an illness distinct from hysteria and from chorea. Charcot and Tourette believed that the “tic illness” they had observed was an untreatable, chronic, and progressive hereditary condition.[5] History is unclear on whether Charcot had examined the Marquise de Dampierre, but his publications mention having met her socially and overhearing her most common utterances of “merde and foutu cochon (which translates literally as filthy pig but the truer colloquial meaning is ‘fucking pig’)”.[4]

In 1885, Gilles de la Tourette published an account of nine patients, Study of a Nervous Affliction, concluding that a new clinical category should be defined.[6] His description included accounts of Marquise de Dampierre, previously described by Itard, as a reclusive aristocratic lady who “ticked and blasphemed” from the age of seven until her death at the age of 80 years. Gilles de la Tourette describes the common feature of involuntary movements or tics in all nine patients. The eponym was later bestowed by Charcot after and on behalf of Gilles de la Tourette.[5][7]

Little progress was made over the next century in explaining or treating tics. With limited clinical experience, involving typically one or two patients, authors advanced different ideas, including brain lesions similar to those resulting from rheumatic chorea or encephalitis lethargica as a cause of tics, faulty mechanisms of normal habit formation, and treatment with Freudian psychoanalysis. The psychogenic view prevailed well into the 20th century.[5]

[edit] Twentieth century

The possibility that movement disorders, including Tourette syndrome, might have an organic origin was raised when an encephalitis epidemic from 1918–1926 led to a subsequent epidemic of tic disorders. The psychoanalytic theory was so dominant that it was claimed that an organic component alone would not be sufficient to produce Tourette syndrome. At the time, psychiatrists believed patients with tics must also be suffering from unresolved psychological disturbances or psychosexual conflicts, and psychiatric intervention was the preferred method of treatment. Patients and their families were told that their own psychological maladjustments were to blame for their symptoms, adding to the burden carried by the patients and their families. Until the early 1970s, psychoanalysis was the preferred intervention for Tourette syndrome.[8]

During the 1960s and 1970s, as the beneficial effects of haloperidol (Haldol) on tics became known, the psychoanalytic approach to Tourette syndrome was questioned. The first description of haloperidol in the treatment of Tourette’s was published by Seignot in 1961.[9] The turning point came in 1965, when Arthur K. Shapiro—described as “the father of modern tic disorder research”[10]—treated a Tourette’s patient with haloperidol. Dr. Shapiro and his wife, Elaine Shapiro (PhD), reported the treatment in a 1968 article, and severely criticized the psychoanalytic approach.[8]

The Shapiros, working with the patient families who founded the Tourette Syndrome Association (TSA) in 1972, advanced the argument that Tourette’s is a neurological, rather than psychological, disorder,[8] and worked to persuade the media to promote information about Tourette’s. The U.S. National Institutes of Health (NIH) turned down a 1972 grant proposal from the TSA because “the reviewers believed there were probably no more than 100 cases of TS in the entire nation”,[11] and a 1973 registry reported only 485 cases worldwide.[12] Subsequent articles on Tourette’s in Good Housekeeping, The New York Times and Ann Landers produced an “enormous response, proving that there were many undiagnosed cases of TS across the United States”.[11]

Since the 1990s, a more neutral view of Tourette’s has emerged, in which biological vulnerability and adverse environmental events are seen to interact.[13][5] In 2000, the American Psychiatric Association published the DSM-IV-TR, revising the text of DSM-IV to no longer require that symptoms of tic disorders cause distress or impair functioning.[14] However, multiple studies published since 2000 have consistently demonstrated that the prevalence is much higher than previously thought.[15] The emerging consensus is that 1–10 children per 1,000 have Tourette’s,[16] with several studies supporting a tighter range of 6–8 children per 1,000.[17] Using year 2000 census data, a prevalence range of 1–10 per 1,000 yields an estimate of 53,000–530,000 school-age children with Tourette’s in the US[17] and a prevalence range of 6–10 per 1,000 means that 64,000–106,000 children aged 5–18 years may have Tourette’s in the UK.[18] Most of these children are undiagnosed and have mild symptoms without distress or impairment.[19][20]

[edit] Contemporary

As of 2006, the Tourette Syndrome Association has contacts in more than 50 countries.[21] The Tourette syndrome International database Consortium (TIC) brought together data on clinical samples of patients with Tourette syndrome from twenty-two countries (Argentina, Australia, Austria, Belgium, Brazil, Canada, Denmark, Germany, Hungary, Iceland, Israel, Italy, Japan, The Netherlands, Norway, Peoples Republic of China, Poland, South Africa, Sweden, Turkey, the US and the UK);[22] Tourette’s has also been studied in Chile, Colombia, Costa Rica, India, Indonesia, Korea, and Spain.[23]

[edit] Research directions and controversies

Findings reported in published studies of Tourette syndrome since 1999 have advanced TS science in the areas of genetics, neuroimaging, neurophysiology, and neuropathology. The TSA supports a clinical database that may help identify genes involved in Tourette syndrome, and the TSA International Genetic Consortium has collected a database on large extended families for future studies. Novel neuroimaging studies are being employed to study tic expression and functional or cognitive deficits in TS patients. Studies of Tourette’s neurophysiology and neuropathology are attempting to link deficits in Tourette’s to specific brain mechanisms, and have taken advantage of a brain bank sponsored by the TSA. Clinical trials have focused on understanding tic suppression, comorbid conditions, novel treatment approaches such as botulinum toxin, and targeted behavioral therapies. Controversy remains in the areas of deep brain stimulation and PANDAS.[24]

Questions remain regarding how best to classify Tourette syndrome, and how closely Tourette’s is related to other movement disorders or psychiatric disorders. Good epidemiologic data is still lacking, and available treatments are not risk free and not always well tolerated.[24]

The direction of current and future research in Tourette’s was outlined in a 2005 journal article[25] by the outgoing chairman of the TSA Scientific Advisory Board. Swerdlow divides the research landscape into five broad questions about Tourette’s: what is it, who has it, what causes it, how it should be studied, and how it should be (medically) treated.

According to Swerdlow,[25] “the ‘core’ TS conundrum” is a lack of consensus about the definition of Tourette syndrome. Since vocal tics result from a “motor event (ie, a contracting diaphragm moving air through the upper airways)”, TS could be defined as a disorder of motor tics, eliminating the distinction between TS and the other tic disorders. Individuals who have only tics may not be functionally impaired, raising the question of whether Tourette’s as currently defined should be a DSM diagnosis. Swerdlow highlights the importance of studies in new areas such as behavioral techniques, and says that “the whole-cloth dismissal of psychologic forces in the pathobiology of TS was a strategic error”. Questions remain about whether co-occurring (comorbid) conditions should be part of the core definition, and why sensory phenomena, which are a core part of Tourette’s, are not part of the diagnostic criteria.

Dropping the criteria for impairment from the diagnosis resulted in higher estimates of the prevalence of TS (the question of “who has it?”). Older estimates “came from tertiary referral samples, the sickest of the sick”; greater prevalence casts the condition in an entirely new light, and calls for new biological models of the condition and new approaches to addressing a more common disorder.[25] Discovering the causes of Tourette’s may help resolve the questions of what it is and who has it. The autosomal dominant inheritance model has not been validated, and past research has been affected by the problem of referred samples, which may not reflect broader populations of persons with Tourette’s. Probabilistic genetic models may yield better clues than the “one gene equals one disorder” approach. One of the most controversial presumed causes, the PANDAS hypothesis, has sparked disagreement.[25]

Expanding criteria for the diagnosis, and increasing awareness of the impact of comorbid diagnoses, has resulted in further questions of how to study Tourette’s. Tourette’s patients are often recruited from sources that introduce ascertainment bias towards one ‘type’ of TS. Developing and applying standardized instruments, along with a greater awareness of ascertainment bias in recruitment sources, will be important in genetic studies. We do not know if “we lose both signals and are just adding noise to the experimental outcome”[25] when comorbid conditions, such as OCD or ADHD, are included or excluded from study samples, or samples include/exclude children or adults, or patients with severe symptoms.

Tourette’s is a heterogeneous condition, with waxing and waning symptoms. The inherently changing nature of its core symptoms complicates research design, resulting in questions about medications in clinical practice. Results from case studies may not be borne out by controlled or prospective, longitudinal studies, stimulants may be underused, and behavioral therapies are understudied. High-profile media coverage focuses on treatments that do not have established safety or efficacy e.g., deep brain stimulation, and alternative therapies involving unstudied efficacy and side effects are pursued by many parents.[25]

In the USA, the NIH has ongoing clinical trials,[26] and the TSA funds ongoing research through its Research Program and Research Grant Awards.[27] Other worldwide ongoing trials can be found by contacting Tourette syndrome advocacy groups.[28]

[edit] Notes

  1. ^ BehaveNet. Tourette’s disorder. Retrieved on March 10, 2005.
  2. ^ Teive HA, Chien HF, Munhoz RP, Barbosa ER. “Charcot’s contribution to the study of Tourette’s syndrome”. Arq Neuropsiquiatr. 2008 Dec;66(4):918–21. PMID 19099145 as reported in Finger S. “Some movement disorders.” In Finger S (ed). Origins of neuroscience: the history of explorations into brain function. New York: Oxford University Press, 1994:220–239.
  3. ^ Itard JMG. Mémoire sur quelques functions involontaires des appareils de la locomotion, de la préhension et de la voix. Arch Gen Med. 1825;8:385–407. From Newman, Sara. Study of several involuntary functions of the apparatus of movement, gripping, and voice by Jean-Marc Gaspard Itard (1825) History of Psychiatry. 2006 17: 333–39. DOI 10.1177/0957154X06067668 Abstract online. Retrieved on October 28, 2006.
  4. ^ a b Teive HA, Chien HF, Munhoz RP, Barbosa ER. “Charcot’s contribution to the study of Tourette’s syndrome”. Arq Neuropsiquiatr. 2008 Dec;66(4):918–21. PMID 19099145
  5. ^ a b c d Black, KJ. Tourette Syndrome and Other Tic Disorders. eMedicine (March 22, 2006). Retrieved on June 27, 2006.
  6. ^ Gilles de la Tourette G, Goetz CG, Llawans HL, trans. Étude sur une affection nerveuse caractérisée par de l’incoordination motrice accompagnée d’echolalie et de coprolalie. In: Friedhoff AJ, Chase TN, eds. Advances in Neurology: Volume 35. Gilles de la Tourette syndrome. New York: Raven Press; 1982;1–16. Discussed at Black, KJ. Tourette Syndrome and Other Tic Disorders. eMedicine (March 22, 2006). Retrieved on June 27, 2006.
  7. ^ Who Named It? Georges Albert Édouard Brutus Gilles de la Tourette. Retrieved on June 28, 2006.
  8. ^ a b c Pagewise, Inc. Tourette syndrome. Retrieved on June 29, 2006.
  9. ^ Rickards H, Hartley N, Robertson MM. Seignot’s paper on the treatment of Tourette’s syndrome with haloperidol. Classic Text No. 31. Hist Psychiatry. 1997 Sep;8 (31 Pt 3):433–36. PMID 11619589
  10. ^ Gadow KD, Sverd J. Attention deficit hyperactivity disorder, chronic tic disorder, and methylphenidate. Adv Neurol. 2006;99:197–207. PMID 16536367
  11. ^ a b Cohen DJ, Jankovic J, Goetz CG, (eds). Advances in neurology, Vol. 85, Tourette syndrome. Lippincott, Williams & Wilkins, Philadelphia, PA, 2001, p. xviii. ISBN 0-7817-2405-8
  12. ^ Abuzzahab FE, Anderson FO. “Gilles de la Tourette’s syndrome; international registry”. Minnesota Medicine. 1973 Jun;56(6):492–6. PMID 4514275
  13. ^ Zinner SH. Tourette disorder. Pediatr Rev. 2000;21(11):372. PMID 11077021
  14. ^ What is DSM-IV-TR? Retrieved on October 28, 2006.
  15. ^ Scahill, L. “Epidemiology of Tic Disorders”. Medical Letter: 2004 Retrospective Summary of TS Literature. Tourette Syndrome Association. The first page (PDF), is available without subscription. Retrieved on June 11, 2007.
    * Kadesjö B, Gillberg C. “Tourette’s disorder: epidemiology and comorbidity in primary school children”. J Am Acad Child Adolesc Psychiatry. 2000 May;39(5):548–55. PMID 10802971
    * Kurlan R, McDermott MP, Deeley C, et al. “Prevalence of tics in schoolchildren and association with placement in special education”. Neurology. 2001 Oct 23;57(8):1383–8. PMID 11673576
    * Khalifa N, von Knorring AL. “Prevalence of tic disorders and Tourette syndrome in a Swedish school population”. Dev Med Child Neurol. 2003 May;45(5):315–19. PMID 12729145
    * Hornsey H, Banerjee S, Zeitlin H, Robertson M. “The prevalence of Tourette syndrome in 13–14-year-olds in mainstream schools”. J Child Psychol Psychiatry. 2001 Nov;42(8):1035–39. PMID 11806685
  16. ^ Lombroso PJ, Scahill L. “Tourette syndrome and obsessive-compulsive disorder”. Brain Dev. 2008 Apr;30(4):231–7. PMID 17937978
  17. ^ a b Scahill L, Williams S, Schwab-Stone M, Applegate J, Leckman JF. “Disruptive behavior problems in a community sample of children with tic disorders”. Adv Neurol. 2006;99:184–90. PMID 16536365
  18. ^ Stern JS, Burza S, Robertson MM. “Gilles de la Tourette’s syndrome and its impact in the UK”. Postgraduate Medicine Journal. 2005 Jan;81(951):12–9. PMID 15640424
  19. ^ Robertson MM (August 1, 2005). “Tourette syndrome”. Psychiatry 4 (8): 92–97. doi:10.1383/psyt.2005.4.8.92
  20. ^ Leckman JF. “Tourette’s syndrome”. Lancet. 2002 Nov 16;360(9345):1577–86. PMID 12443611
  21. ^ Tourette Syndrome Association. International contacts. Retrieved on January 4, 2007.
  22. ^ Freeman RD, Fast DK, Burd L, Kerbeshian J, Robertson MM, Sandor P. An international perspective on Tourette syndrome: selected findings from 3,500 individuals in 22 countries. Dev Med Child Neurol. 2000 Jul;42(7):436–47. PMID 10972415
  23. ^ (Chile) Miranda M, Menendez P, David P, et al. [Tics disease (Gilles de la Tourette syndrome): clinical characteristics of 70 patients]. Rev Med Chil. 1999 Dec;127(12):1480–86. Spanish. PMID 10835756 (Colombia) Garcia-Ceren JJ, Valencia-Duarte AV, Cornejo JW, et al. [Genetic linkage analysis of Gilles de la Tourette Syndrome in a Colombian family]. Rev Neurol. 2006 Feb 16-28;42(4):211–16. PMID 16521059 (Costa Rica) Mathews CA, Herrera Amighetti LD, Lowe TL, et al. Cultural influences on diagnosis and perception of Tourette syndrome in Costa Rica. J Am Acad Child Adolesc Psychiatry. 2001 Apr;40(4):456–63. PMID 11314572 (India) Eapen V, Srinath S. Gilles de la Tourette syndrome in India: two cases. Psychol Rep. 1992 Apr;70(2):667-68. PMID 1598386 (Indonesia) Lemelson RB. Traditional healing and its discontents: efficacy and traditional therapies of neuropsychiatric disorders in Bali. Med Anthropol Q. 2004 Mar;18(1):48–76. PMID 15098427 doi:10.1525/maq.2004.18.1.48 (Korea) Kim BN, Lee CB, Hwang JW, et al. Effectiveness and safety of risperidone for children and adolescents with chronic tic or tourette disorders in Korea. J Child Adolesc Psychopharmacol. 2005 Apr;15(2):318-24. PMID 15910216 (Spain) Kulisevsky J, Litvan I, Berthier ML, et al. Neuropsychiatric assessment of Gilles de la Tourette patients: comparative study with other hyperkinetic and hypokinetic movement disorders. Mov Disord. 2001 Nov;16(6):1098-104. PMID 11748741
  24. ^ a b Walkup, JT, Mink, JW, Hollenback, PJ, (eds). Advances in neurology, Vol. 99, Tourette syndrome. Lippincott, Williams & Wilkins, Philadelphia, PA, 2006. pp. xvi–xviii. ISBN 0-7817-9970-8
  25. ^ a b c d e f Swerdlow, NR. Tourette Syndrome: Current Controversies and the Battlefield Landscape. Curr Neurol Neurosci Rep. 2005, 5:329–31. PMID 16131414
  26. ^ National Institutes of Health. Tourette syndrome clinical trials. Retrieved on October 27, 2007.
  27. ^ Tourette Syndrome Association. Research and Science. Retrieved on January 4, 2007.
  28. ^ Tourette Syndrome Association. Tourette Syndrome Association, U.S.A. Chapters and International Contacts. Retrieved on January 4, 2007.

[edit] References

  • Kushner, HI. A cursing brain?: The histories of Tourette syndrome. Harvard University Press, 2000. ISBN 0-674-00386-1

Topics related to Tourette syndrome (F95.2, 307.23)

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M: PSO/PSI

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