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Tourette syndrome(TS; GTS)

MedGen UID:
21219
Concept ID:
C0040517
Disease or Syndrome
Synonyms: Chronic Motor and Vocal Tic Disorder; Combined Multiple Motor and Vocal Tic Disorder; Combined Vocal and Multiple Motor Tic Disorder; Gilles de la Tourette Disorder; Gilles de la Tourette Syndrome; Gilles de la Tourette's Disease; Gilles De La Tourette's Syndrome; Multiple Motor and Vocal Tic Disorder, Combined; Syndrome, Tourette; Tic Disorder, Combined Vocal and Multiple Motor; Tourette Disease; Tourette Disorder; Tourette Syndrome; Tourette's Disease; Tourette's Disorder; Tourette's Syndrome; Tourettes Disease; Tourettes Disorder; Tourettes Syndrome
SNOMED CT: Tourette's syndrome (5158005); Tourette's disorder (5158005); Combined vocal and multiple motor tic disorder (5158005); Gilles de la Tourette syndrome (5158005); Gilles de la Tourettes syndrome (5158005); Gilles de la Tourette's syndrome (5158005)
 
Genes (locations): HDC (15q21.2); SLITRK1 (13q31.1)
 
Monarch Initiative: MONDO:0007661
OMIM®: 137580
Orphanet: ORPHA856

Definition

Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.

Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning.

Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome.

In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.  https://medlineplus.gov/genetics/condition/tourette-syndrome

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Echolalia
MedGen UID:
8532
Concept ID:
C0013528
Mental or Behavioral Dysfunction
Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Finding
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Compulsive behaviors
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
Motor tics
MedGen UID:
199761
Concept ID:
C0751900
Sign or Symptom
Movement-based tics affecting discrete muscle groups.
Phonic tics
MedGen UID:
155955
Concept ID:
C0751901
Sign or Symptom
Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTourette syndrome

Professional guidelines

PubMed

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Roessner V, Eichele H, Stern JS, Skov L, Rizzo R, Debes NM, Nagy P, Cavanna AE, Termine C, Ganos C, Münchau A, Szejko N, Cath D, Müller-Vahl KR, Verdellen C, Hartmann A, Rothenberger A, Hoekstra PJ, Plessen KJ
Eur Child Adolesc Psychiatry 2022 Mar;31(3):425-441. Epub 2021 Nov 10 doi: 10.1007/s00787-021-01899-z. PMID: 34757514Free PMC Article
Müller-Vahl KR, Szejko N, Verdellen C, Roessner V, Hoekstra PJ, Hartmann A, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):377-382. Epub 2021 Jul 10 doi: 10.1007/s00787-021-01832-4. PMID: 34244849Free PMC Article

Recent clinical studies

Etiology

Marazziti D, Palermo S, Arone A, Massa L, Parra E, Simoncini M, Martucci L, Beatino MF, Pozza A
Adv Exp Med Biol 2023;1411:275-300. doi: 10.1007/978-981-19-7376-5_13. PMID: 36949315
Gilbert DL, Dubow JS, Cunniff TM, Wanaski SP, Atkinson SD, Mahableshwarkar AR
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-059574. PMID: 36628546
Rizzo R, Prato A, Scerbo M, Saia F, Barone R, Curatolo P
Nutrients 2022 Feb 18;14(4) doi: 10.3390/nu14040852. PMID: 35215501Free PMC Article
Müller-Vahl KR, Szejko N, Verdellen C, Roessner V, Hoekstra PJ, Hartmann A, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):377-382. Epub 2021 Jul 10 doi: 10.1007/s00787-021-01832-4. PMID: 34244849Free PMC Article
Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article

Diagnosis

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Lin WD, Tsai FJ, Chou IC
Biomed J 2022 Apr;45(2):271-279. Epub 2022 Jan 15 doi: 10.1016/j.bj.2022.01.008. PMID: 35042017Free PMC Article
Müller-Vahl KR, Szejko N, Verdellen C, Roessner V, Hoekstra PJ, Hartmann A, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):377-382. Epub 2021 Jul 10 doi: 10.1007/s00787-021-01832-4. PMID: 34244849Free PMC Article
Set KK, Warner JN
Curr Probl Pediatr Adolesc Health Care 2021 Jul;51(7):101032. Epub 2021 Jul 23 doi: 10.1016/j.cppeds.2021.101032. PMID: 34305006
Singer HS
Continuum (Minneap Minn) 2019 Aug;25(4):936-958. doi: 10.1212/CON.0000000000000752. PMID: 31356288

Therapy

Parrella NF, Hill AT, Enticott PG, Barhoun P, Bower IS, Ford TC
Pharmacol Biochem Behav 2023 Sep;230:173607. Epub 2023 Aug 4 doi: 10.1016/j.pbb.2023.173607. PMID: 37543051
Roessner V, Eichele H, Stern JS, Skov L, Rizzo R, Debes NM, Nagy P, Cavanna AE, Termine C, Ganos C, Münchau A, Szejko N, Cath D, Müller-Vahl KR, Verdellen C, Hartmann A, Rothenberger A, Hoekstra PJ, Plessen KJ
Eur Child Adolesc Psychiatry 2022 Mar;31(3):425-441. Epub 2021 Nov 10 doi: 10.1007/s00787-021-01899-z. PMID: 34757514Free PMC Article
Billnitzer A, Jankovic J
Neurotherapeutics 2020 Oct;17(4):1681-1693. doi: 10.1007/s13311-020-00914-6. PMID: 32856174Free PMC Article
Black N, Stockings E, Campbell G, Tran LT, Zagic D, Hall WD, Farrell M, Degenhardt L
Lancet Psychiatry 2019 Dec;6(12):995-1010. Epub 2019 Oct 28 doi: 10.1016/S2215-0366(19)30401-8. PMID: 31672337Free PMC Article
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030

Prognosis

Mosley PE, Webb L, Suraev A, Hingston L, Turnbull T, Foster K, Ballard E, Gomes L, Mohan A, Sachdev PS, Kevin R, Gordon R, Benson M, McGregor IS
NEJM Evid 2023 Sep;2(9):EVIDoa2300012. Epub 2023 Jun 7 doi: 10.1056/EVIDoa2300012. PMID: 38320199
Nilles C, Hartmann A, Roze E, Martino D, Pringsheim T
Handb Clin Neurol 2023;196:457-474. doi: 10.1016/B978-0-323-98817-9.00002-8. PMID: 37620085
Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Lin WD, Tsai FJ, Chou IC
Biomed J 2022 Apr;45(2):271-279. Epub 2022 Jan 15 doi: 10.1016/j.bj.2022.01.008. PMID: 35042017Free PMC Article
Hartmann A, Worbe Y
Curr Opin Neurol 2018 Aug;31(4):504-509. doi: 10.1097/WCO.0000000000000575. PMID: 29746399

Clinical prediction guides

Mosley PE, Webb L, Suraev A, Hingston L, Turnbull T, Foster K, Ballard E, Gomes L, Mohan A, Sachdev PS, Kevin R, Gordon R, Benson M, McGregor IS
NEJM Evid 2023 Sep;2(9):EVIDoa2300012. Epub 2023 Jun 7 doi: 10.1056/EVIDoa2300012. PMID: 38320199
Gilbert DL, Dubow JS, Cunniff TM, Wanaski SP, Atkinson SD, Mahableshwarkar AR
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-059574. PMID: 36628546
Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Cavanna AE, Ganos C, Hartmann A, Martino D, Pringsheim T, Seri S
Cogn Neuropsychiatry 2020 Jul;25(4):254-268. Epub 2020 May 6 doi: 10.1080/13546805.2020.1760812. PMID: 32372718
Cavanna AE, Nani A
Int Rev Neurobiol 2013;112:373-89. doi: 10.1016/B978-0-12-411546-0.00012-3. PMID: 24295627

Recent systematic reviews

Parrella NF, Hill AT, Enticott PG, Barhoun P, Bower IS, Ford TC
Pharmacol Biochem Behav 2023 Sep;230:173607. Epub 2023 Aug 4 doi: 10.1016/j.pbb.2023.173607. PMID: 37543051
Fregni F, El-Hagrassy MM, Pacheco-Barrios K, Carvalho S, Leite J, Simis M, Brunelin J, Nakamura-Palacios EM, Marangolo P, Venkatasubramanian G, San-Juan D, Caumo W, Bikson M, Brunoni AR; Neuromodulation Center Working Group
Int J Neuropsychopharmacol 2021 Apr 21;24(4):256-313. doi: 10.1093/ijnp/pyaa051. PMID: 32710772Free PMC Article
Black N, Stockings E, Campbell G, Tran LT, Zagic D, Hall WD, Farrell M, Degenhardt L
Lancet Psychiatry 2019 Dec;6(12):995-1010. Epub 2019 Oct 28 doi: 10.1016/S2215-0366(19)30401-8. PMID: 31672337Free PMC Article
Pringsheim T, Holler-Managan Y, Okun MS, Jankovic J, Piacentini J, Cavanna AE, Martino D, Müller-Vahl K, Woods DW, Robinson M, Jarvie E, Roessner V, Oskoui M
Neurology 2019 May 7;92(19):907-915. doi: 10.1212/WNL.0000000000007467. PMID: 31061209Free PMC Article
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030

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