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Tourette Syndrome(GTS)

MedGen UID:
21219
Concept ID:
C0040517
Disease or Syndrome
Synonyms: GTS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
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)
OMIM®: 137580

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 GHR
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://ghr.nlm.nih.gov/condition/tourette-syndrome

Clinical features

Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Echolalia
MedGen UID:
8532
Concept ID:
C0013528
Mental or Behavioral Dysfunction
Involuntary ("parrot-like"), meaningless repetition of a recently heard word, phrase, or song. This condition may be associated with transcortical APHASIA; SCHIZOPHRENIA; or other disorders. (From Adams et al., Principles of Neurology, 6th ed, p485)
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
Sleep disturbance
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Obsessive-compulsive behavior
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
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
Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations. ADHD is more common in boys than girls. It affects 3-5 percent of all American children. The main features of ADHD are. -Inattention. -Hyperactivity. -Impulsivity. No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors. A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help. NIH: National Institute of Mental Health .

Recent clinical studies

Etiology

Darrow SM, Hirschtritt ME, Davis LK, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman CL, Cath DC, Greenberg E, Lyon GJ, Yu D, McGrath LM, McMahon WM, Lee PC, Delucchi KL, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics.
Am J Psychiatry 2017 Apr 1;174(4):387-396. Epub 2016 Nov 4 doi: 10.1176/appi.ajp.2016.16020240. PMID: 27809572Free PMC Article
Lee MY, Mu PF, Wang WS, Wang HS
J Clin Nurs 2016 Feb;25(3-4):463-71. doi: 10.1111/jocn.13074. PMID: 26818371
Wong LC, Huang HL, Weng WC, Jong YJ, Yin YJ, Chen HA, Lee WT, Ho SY
Res Dev Disabil 2016 Apr-May;51-52:181-7. Epub 2015 Nov 18 doi: 10.1016/j.ridd.2015.10.005. PMID: 26597416
Eaton CK, LaMotte J, Gutierrez-Colina AM, Kardon P, Blount RL
J Abnorm Child Psychol 2016 Aug;44(6):1197-203. doi: 10.1007/s10802-015-0105-9. PMID: 26589437
Leivonen S, Chudal R, Joelsson P, Ekblad M, Suominen A, Brown AS, Gissler M, Voutilainen A, Sourander A
Child Psychiatry Hum Dev 2016 Feb;47(1):75-82. doi: 10.1007/s10578-015-0545-z. PMID: 25796373

Diagnosis

Darrow SM, Hirschtritt ME, Davis LK, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman CL, Cath DC, Greenberg E, Lyon GJ, Yu D, McGrath LM, McMahon WM, Lee PC, Delucchi KL, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics.
Am J Psychiatry 2017 Apr 1;174(4):387-396. Epub 2016 Nov 4 doi: 10.1176/appi.ajp.2016.16020240. PMID: 27809572Free PMC Article
Cloes KI, Barfell KS, Horn PS, Wu SW, Jacobson SE, Hart KJ, Gilbert DL
Dev Med Child Neurol 2017 Mar;59(3):284-290. Epub 2016 Sep 27 doi: 10.1111/dmcn.13285. PMID: 27671877
Baldermann JC, Schüller T, Huys D, Becker I, Timmermann L, Jessen F, Visser-Vandewalle V, Kuhn J
Brain Stimul 2016 Mar-Apr;9(2):296-304. Epub 2015 Dec 29 doi: 10.1016/j.brs.2015.11.005. PMID: 26827109
Eaton CK, LaMotte J, Gutierrez-Colina AM, Kardon P, Blount RL
J Abnorm Child Psychol 2016 Aug;44(6):1197-203. doi: 10.1007/s10802-015-0105-9. PMID: 26589437
Leivonen S, Chudal R, Joelsson P, Ekblad M, Suominen A, Brown AS, Gissler M, Voutilainen A, Sourander A
Child Psychiatry Hum Dev 2016 Feb;47(1):75-82. doi: 10.1007/s10578-015-0545-z. PMID: 25796373

Therapy

Lu YY, Wang MY, Wei IH, Lin CC, Huang CC
Eur Child Adolesc Psychiatry 2017 May;26(5):531-539. Epub 2016 Nov 2 doi: 10.1007/s00787-016-0916-4. PMID: 27807804
Wong LC, Huang HL, Weng WC, Jong YJ, Yin YJ, Chen HA, Lee WT, Ho SY
Res Dev Disabil 2016 Apr-May;51-52:181-7. Epub 2015 Nov 18 doi: 10.1016/j.ridd.2015.10.005. PMID: 26597416
Balottin L, Selvini C, Luoni C, Mannarini S, Chiappedi M, Seri S, Termine C, Cavanna AE
J Child Neurol 2016 Mar;31(3):294-9. Epub 2015 Jun 15 doi: 10.1177/0883073815589762. PMID: 26078419
Leivonen S, Chudal R, Joelsson P, Ekblad M, Suominen A, Brown AS, Gissler M, Voutilainen A, Sourander A
Child Psychiatry Hum Dev 2016 Feb;47(1):75-82. doi: 10.1007/s10578-015-0545-z. PMID: 25796373
Kumar A, Williams MT, Chugani HT
J Child Neurol 2015 May;30(6):749-56. Epub 2014 Aug 12 doi: 10.1177/0883073814543303. PMID: 25117419

Prognosis

Lu YY, Wang MY, Wei IH, Lin CC, Huang CC
Eur Child Adolesc Psychiatry 2017 May;26(5):531-539. Epub 2016 Nov 2 doi: 10.1007/s00787-016-0916-4. PMID: 27807804
Cloes KI, Barfell KS, Horn PS, Wu SW, Jacobson SE, Hart KJ, Gilbert DL
Dev Med Child Neurol 2017 Mar;59(3):284-290. Epub 2016 Sep 27 doi: 10.1111/dmcn.13285. PMID: 27671877
Delorme C, Salvador A, Valabrègue R, Roze E, Palminteri S, Vidailhet M, de Wit S, Robbins T, Hartmann A, Worbe Y
Brain 2016 Feb;139(Pt 2):605-15. Epub 2015 Oct 21 doi: 10.1093/brain/awv307. PMID: 26490329
Eapen V, Snedden C, Črnčec R, Pick A, Sachdev P
Aust N Z J Psychiatry 2016 Jan;50(1):82-93. Epub 2015 Jul 13 doi: 10.1177/0004867415594429. PMID: 26169656
Shprecher DR, Schrock L, Himle M
Curr Opin Neurol 2014 Aug;27(4):484-92. doi: 10.1097/WCO.0000000000000119. PMID: 24978639

Clinical prediction guides

Darrow SM, Hirschtritt ME, Davis LK, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman CL, Cath DC, Greenberg E, Lyon GJ, Yu D, McGrath LM, McMahon WM, Lee PC, Delucchi KL, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics.
Am J Psychiatry 2017 Apr 1;174(4):387-396. Epub 2016 Nov 4 doi: 10.1176/appi.ajp.2016.16020240. PMID: 27809572Free PMC Article
Cloes KI, Barfell KS, Horn PS, Wu SW, Jacobson SE, Hart KJ, Gilbert DL
Dev Med Child Neurol 2017 Mar;59(3):284-290. Epub 2016 Sep 27 doi: 10.1111/dmcn.13285. PMID: 27671877
Baldermann JC, Schüller T, Huys D, Becker I, Timmermann L, Jessen F, Visser-Vandewalle V, Kuhn J
Brain Stimul 2016 Mar-Apr;9(2):296-304. Epub 2015 Dec 29 doi: 10.1016/j.brs.2015.11.005. PMID: 26827109
Eaton CK, LaMotte J, Gutierrez-Colina AM, Kardon P, Blount RL
J Abnorm Child Psychol 2016 Aug;44(6):1197-203. doi: 10.1007/s10802-015-0105-9. PMID: 26589437
Delorme C, Salvador A, Valabrègue R, Roze E, Palminteri S, Vidailhet M, de Wit S, Robbins T, Hartmann A, Worbe Y
Brain 2016 Feb;139(Pt 2):605-15. Epub 2015 Oct 21 doi: 10.1093/brain/awv307. PMID: 26490329

Recent systematic reviews

Evans J, Seri S, Cavanna AE
Eur Child Adolesc Psychiatry 2016 Sep;25(9):939-48. Epub 2016 Feb 15 doi: 10.1007/s00787-016-0823-8. PMID: 26880181Free PMC Article
Baldermann JC, Schüller T, Huys D, Becker I, Timmermann L, Jessen F, Visser-Vandewalle V, Kuhn J
Brain Stimul 2016 Mar-Apr;9(2):296-304. Epub 2015 Dec 29 doi: 10.1016/j.brs.2015.11.005. PMID: 26827109
Yuan A, Su L, Yu S, Li C, Yu T, Sun J
PLoS One 2015;10(6):e0131060. Epub 2015 Jun 25 doi: 10.1371/journal.pone.0131060. PMID: 26110876Free PMC Article
Scharf JM, Miller LL, Gauvin CA, Alabiso J, Mathews CA, Ben-Shlomo Y
Mov Disord 2015 Feb;30(2):221-8. Epub 2014 Dec 8 doi: 10.1002/mds.26089. PMID: 25487709
Hansen JK, Jacobsen PE, Simonsen JL, Hovgaard O, Haubek D
Spec Care Dentist 2015 May-Jun;35(3):99-104. Epub 2014 Nov 30 doi: 10.1111/scd.12098. PMID: 25443981

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