Complex phenotype of Tourette syndrome in a ten-year-old boy (a clinical case)

Authors

DOI:

https://doi.org/10.14739/2310-1210.2024.2.292978

Keywords:

Tourette syndrome, obsessive-compulsive disorder, clinical case

Abstract

Aim. The aim of the work is to draw attention to the symptoms associated with Tourette syndrome and to examine the association with comorbid diseases.

Materials and methods. A review of the scientific literature on Tourette syndrome (TS) was conducted using the following Keywords

“tics”, “Tourette syndrome”, “Tourette obsessive-compulsive disorder, TOCD”, “obsessive-compulsive disorder, OCD”, “attention deficit hyperactivity disorder, ADHD” using PubMed, MEDLINE, EMBASE as search engines. Taking into account studies conducted in the last 10 years, the abstracts of 275 articles were analyzed. Articles were selected for the study based on the criterion of their close relevance to the topic. The study results covered in 49 articles were examined in more detail. A description of a TOCD clinical case was prepared from primary medical documentation with parental informed consent.

Results. The prevalence of TS is quite variable, depends on epidemiological research methods and ranges from 0.3 % to 1.0 % worldwide. Given the methodological limitations of most studies, the actual prevalence may be 10 times higher. TS is a progressive disease and is characterized by regular stages. Tourette syndrome-plus is distinguished, including autoaggressive actions besides the basic symptoms of OCD and ADHD. The etiology of TS is still being studied. In particular, the impact of environmental factors is considered: infection or inflammation, perinatal complications and chronic psychosocial stress in childhood. In 70–80 % of cases, TS is a hereditary disorder, making it one of the most heritable childhood-onset neuropsychiatric diseases. Various approaches have been applied to assess the genetic architecture of TS, including candidate gene studies, segregation analysis, linkage analysis, cytogenetics, copy number variants (CNV), rare variation studies, genome-wide association studies (GWAS), and whole exome sequencing (WES). Currently, there is no specific laboratory or genetic test for TS diagnosis. Pharmacological treatments are available but often ineffective; behavioral and surgical treatments are under development. The clinical case of TS in a 10-year-old boy is described with an onset at the age of 7 years following frequent infections, manifested as cephalocaudal motor tics and several vocal tics (coprolalia, echolalia) with a progression to obsessive-compulsive behavior (mysophobia, compulsive skin picking, self-hitting, self-biting, repetitive compulsions). The presented clinical case is of great interest from the viewpoint of somewhat belated diagnosis of TOCD syndrome, as well as indicates the need to continue the search for effective methods of diagnosis and treatment.

Conclusions. The case of comorbid OCD and tic disorder is a unique endophenotype combining externalized disinhibited TS movements in parallel with internalized distress reminiscent of OCD. Clinicians should consider these features when choosing treatment methods.

Author Biographies

T. V. Sorokman, Bukovinian State Medical University, Chernivtsi, Ukraine

MD, PhD, DSc, Professor of the Department of Pediatrics and Medical Genetics

N. Ya. Chernei, Bukovinian State Medical University, Chernivtsi, Ukraine

MD, PhD, Assistant of the Department of Pediatrics and Medical Gene

I. S. Sokolnyk, Bukovinian State Medical University, Chernivtsi, Ukraine

6th-year student

V. H. Ostapchuk, Bukovinian State Medical University, Chernivtsi, Ukraine

MD, PhD, Assistant of the Department of Pediatrics and Medical Genetics

References

Set KK, Warner JN. Tourette syndrome in children: An update. Curr Probl Pediatr Adolesc Health Care. 2021;51(7):101032. doi: https://doi.org/10.1016/j.cppeds.2021.101032

Yang C, Zhang J, Zhao Q, Zhang J, Zhou J, Wang L. Trends of Tourette Syndrome in children from 2011 to 2021: A bibliometric analysis. Front Behav Neurosci. 2022;16:991805. doi: https://doi.org/10.3389/fnbeh.2022.991805

Marino C, Khan K, Groom MJ, Hall SS, Anderson S, Mcnally E, et al. Patients' experience of accessing support for tics from primary care in the UK: an online mixed-methods survey. BMC Health Serv Res. 2023;23(1):788. doi: https://doi.org/10.1186/s12913-023-09753-5

Tinker SC, Bitsko RH, Danielson ML, Newsome K, Kaminski JW. Estimating the number of people with Tourette syndrome and persistent tic disorder in the United States. Psychiatry Res. 2022;314:114684. doi: https://doi.org/10.1016/j.psychres.2022.114684

Li Y, Yan JJ, Cui YH. Clinical characteristics of pediatric patients with treatment-refractory Tourette syndrome: An evidence-based survey in a Chinese population. World J Psychiatry. 2022;12(7):958-69. doi: https://doi.org/10.5498/wjp.v12.i7.958

Choi S, Lee H, Song DH, Cheon KA. Population-Based Epidemiology of Pediatric Patients with Treated Tic Disorders from Real-World Evidence in Korea. J Child Adolesc Psychopharmacol. 2019;29(10):764-72. doi: https://doi.org/10.1089/cap.2019.0050

Ganos C, Münchau A, Bhatia KP. The Semiology of Tics, Tourette's, and Their Associations. Movement disorders clinical practice. 2014;1(3):145–153. https://doi.org/10.1002/mdc3.12043

Abbasi P, Tanhaie S, Kazeminia M. Prevalence of depression and anxiety in patients with Tourette syndrome; 1997 to 2022: a systematic review and meta-analysis. Ital J Pediatr. 2023;49(1):160. doi: https://doi.org/10.1186/s13052-023-01562-0

Roessner V, Rothenberger A, Rickards H, Hoekstra PJ. European clinical guidelines for Tourette syndrome and other tic disorders. Eur Child Adolesc Psychiatry. 2011;20(4):153-4. doi: https://doi.org/10.1007/s00787-011-0165-5

Trull TJ, Vergés A, Wood PK, Jahng S, Sher KJ. The structure of Diagnostic and Statistical Manual of Mental Disorders (4th edition, text revision) personality disorder symptoms in a large national sample. Personal Disord. 2012;3(4):355-69. doi: https://doi.org/10.1037/a0027766

Vahia VN. Diagnostic and statistical manual of mental disorders 5: A quick glance. Indian J Psychiatry. 2013;55(3):220-3. doi: https://doi.org/10.4103/0019-5545.117131

Scharf JM, Miller LL, Gauvin CA, Alabiso J, Mathews CA, Ben-Shlomo Y. Population prevalence of Tourette syndrome: a systematic review and meta-analysis. Mov Disord. 2015;30(2):221-8. doi: https://doi.org/10.1002/mds.26089

Knight T, Steeves T, Day L, Lowerison M, Jette N, Pringsheim T. Prevalence of tic disorders: a systematic review and meta-analysis. Pediatr Neurol. 2012;47(2):77-90. doi: https://doi.org/10.1016/j.pediatrneurol.2012.05.002

Walkup JT, Rosenberg LA, Brown J, Singer HS. The validity of instruments measuring tic severity in Tourette's syndrome. J Am Acad Child Adolesc Psychiatry. 1992;31(3):472-7. doi: https://doi.org/10.1097/00004583-199205000-00013

Martino D, Pringsheim TM, Cavanna AE, Colosimo C, Hartmann A, Leckman JF, et al. Systematic review of severity scales and screening instruments for tics: Critique and recommendations. Mov Disord. 2017;32(3):467-73. doi: https://doi.org/10.1002/mds.26891

Baumung L, Müller-Vahl K, Dyke K, Jackson G, Jackson S, Golm, D, et al. Developing the Premonitory Urges for Tic Disorders Scale-Revised (PUTS-R). Journal of neuropsychology. 2021;15(1):129–142. https://doi.org/10.1111/jnp.12216

Ministry of Health of Ukraine. Klasyfikator khvorob ta sporidnenykh problem okhorony zdorovia [Classification of Diseases and Related Health Problems]. НК 025:2021. Ukrainian. Available from: https://www.dec.gov.ua/wp-content/uploads/2021/11/naczionalnyj-klasyfikator-nk-025.pdf

American Psychiatric Association. Diagnostic and statistical manual of mental disorders. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. 2013;5(5). doi: https://doi.org/10.1176/appi.books.9780890425596

Martsenkovskyi IA, Dubovyk KV, Pavlenko TS. Tykozni rozlady: osoblyvosti diahnostyky ta terapevtychni stratehii [Tic disorders: diagnostic features and therapeutic strategies]. NeyroNEWS. 2017;2:31-6. Ukrainian.

Baron-Cohen S, Mortimore C, Moriarty J, Izaguirre J, Robertson M. The prevalence of Gilles de la Tourette's syndrome in children and adolescents with autism. J Child Psychol Psychiatry. 1999;40(2):213-8.

Orlovska S, Vestergaard CH, Bech BH, Nordentoft M, Vestergaard M, Benros ME. Association of Streptococcal Throat Infection With Mental Disorders: Testing Key Aspects of the PANDAS Hypothesis in a Nationwide Study. JAMA Psychiatry. 2017;74(7):740-6. doi: https://doi.org/10.1001/jamapsychiatry.2017.0995

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS. Tourette syndrome: clinical features, pathophysiology, and treatment. Lancet Neurol. 2023;22(2):147-58. doi: https://doi.org/10.1016/S1474-4422(22)00303-9

Rizzo R, Gulisano M, Martino D, Robertson MM. Gilles de la Tourette Syndrome, Depression, Depressive Illness, and Correlates in a Child and Adolescent Population. J Child Adolesc Psychopharmacol. 2017;27(3):243-9. doi: https://doi.org/10.1089/cap.2016.0120

La Bella S, Scorrano G, Rinaldi M, Di Ludovico A, Mainieri F, Attanasi M, et al. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS): Myth or Reality? The State of the Art on a Controversial Disease. Microorganisms. 2023;11(10):2549. doi: https://doi.org/10.3390/microorganisms11102549

Fontenelle LF, Albertella L, Brierley ME, Thompson EM, Destrée L, Chamberlain SR, et al. Correlates of obsessive-compulsive and related disorders symptom severity during the COVID-19 pandemic. J Psychiatr Res. 2021;143:471-80. doi: https://doi.org/10.1016/j.jpsychires.2021.03.046

Khosravani V, Aardema F, Samimi Ardestani SM, Sharifi Bastan F. The impact of the coronavirus pandemic on specific symptom dimensions and severity in OCD: A comparison before and during COVID-19 in the context of stress responses. J Obsessive Compuls Relat Disord. 2021;29:100626. doi: https://doi.org/10.1016/j.jocrd.2021.100626

Martino D, Schrag A, Anastasiou Z, Apter A, Benaroya-Milstein N, Buttiglione M, et al. Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study. Neurology. 2021;96(12):e1680-93. doi: https://doi.org/10.1212/WNL.0000000000011610

Schrag A, Martino D, Apter A, Ball J, Bartolini E, Benaroya-Milshtein N, et al. European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents. Eur Child Adolesc Psychiatry. 2019;28(1):91-109. doi: https://doi.org/10.1007/s00787-018-1190-4

Khoodoruth MA, Ahammad F, Khan YS, Mohammad F. The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder. Front Neurol. 2023;14:1283572. doi: https://doi.org/10.3389/fneur.2023.1283572

Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, et al. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. Biol Psychiatry. 2020;87(12):1035-44. doi: https://doi.org/10.1016/j.biopsych.2019.09.029

Smith DJ, Escott-Price V, Davies G, Bailey ME, Colodro-Conde L, Ward J, et al. Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. Mol Psychiatry. 2016;21(6):749-57. doi: https://doi.org/10.1038/mp.2016.49

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, et al. Analysis of shared heredity in common brain diseases. Science. 2018;360(6395):eaap8757. doi: https://doi.org/10.1126/science.aap8757

Martino D, Ganos C, Worbe Y. Neuroimaging Applications in Tourette's Syndrome. Int Rev Neurobiol. 2018;143:65-108. doi: https://doi.org/10.1016/bs.irn.2018.09.008

Ueda K, Black KJ. Recent progress on Tourette syndrome. Fac Rev. 2021;10:70. doi: https://doi.org/10.12703/r/10-70

Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, et al. European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment. Eur Child Adolesc Psychiatry. 2011;20(4):155-71. doi: https://doi.org/10.1007/s00787-011-0164-6

Wu J, Zhou T, Guo Y, Tian Y, Lou Y, Feng J, et al. Video-based evaluation system for tic action in Tourette syndrome: modeling, detection, and evaluation. Health Inf Sci Syst. 2023;11(1):39. doi: https://doi.org/10.1007/s13755-023-00240-z

Pringsheim T, Martino D. Rapid onset of functional tic-like behaviours in young adults during the COVID-19 pandemic. Eur J Neurol. 2021;28(11):3805-8. doi: https://doi.org/10.1111/ene.15034

Schneider SA, Hennig A, Martino D. Relationship between COVID-19 and movement disorders: A narrative review. Eur J Neurol. 2022;29(4):1243-53. doi: https://doi.org/10.1111/ene.15217

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, et al. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry. 2015;172(1):82-93. doi: https://doi.org/10.1176/appi.ajp.2014.13101306

Fichna J P, Borczyk M, Piechota M, Korostynski M, Zekanowski C, Janik P.. Genomic variants and inferred biological processes in multiplex families with Tourette syndrome. Journal of psychiatry & neuroscience. 2023;48(3):E179–E189. https://doi.org/10.1503/jpn.220206

Katz TC, Bui TH, Worhach J, Bogut G, Tomczak KK. Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype. Front Psychiatry. 2022;13:929526. doi: https://doi.org/10.3389/fpsyt.2022.929526

Goodman R. The Strengths and Difficulties Questionnaire: a research note. J Child Psychol Psychiatry. 1997;38(5):581-6. doi: https://doi.org/10.1111/j.1469-7610.1997.tb01545.x

Marras A, Fineberg N, Pallanti S. Obsessive compulsive and related disorders: comparing DSM-5 and ICD-11. CNS spectrums. 2016;21(4);324–333. https://doi.org/10.1017/S1092852916000110

Pringsheim T, Okun MS, Müller-Vahl K, Martino D, Jankovic J, Cavanna AE, et al. Practice guideline recommendations summary: Treatment of tics in people with Tourette syndrome and chronic tic disorders. Neurology. 2019;92(19):896-906. doi: https://doi.org/10.1212/WNL.0000000000007466

Andrén P, Jakubovski E, Murphy TL, Woitecki K, Tarnok Z, Zimmerman-Brenner S, et al. European clinical guidelines for Tourette syndrome and other tic disorders-version 2.0. Part II: psychological interventions. Eur Child Adolesc Psychiatry. 2022;31(3):403-23. doi: https://doi.org/10.1007/s00787-021-01845-z

George T, Emig M, Chand P, Hendry H. Successful Treatment of Tourette Syndrome With a Combination of Guanfacine and Aripiprazole: A Case Series. Cureus. 2023;15(5):e39573. doi: https://doi.org/10.7759/cureus.39573

Maxwell A, Zouki JJ, Eapen V. Integrated cognitive behavioral intervention for functional tics (I-CBiT): case reports and treatment formulation. Front Pediatr. 2023;11:1265123. doi: https://doi.org/10.3389/fped.2023.1265123

Gong H, Du X, Su A, Du Y. Pharmacological treatment of Tourette's syndrome: from the past to the future. Neurol Sci. 2024;45(3):941-62. doi: https://doi.org/10.1007/s10072-023-07172-2

Malli MA, Forrester-Jones R. "I'm not being rude, I'd want somebody normal": Adolescents' Perception of their Peers with Tourette's Syndrome: an Exploratory Study. J Dev Phys Disabil. 2017;29(2):279-305. doi: https://doi.org/10.1007/s10882-016-9524-y

Robertson MM, Banerjee S, Kurlan R, Cohen DJ, Leckman JF, McMahon W, et al. The Tourette syndrome diagnostic confidence index: development and clinical associations. Neurology. 1999;53(9):2108-12. doi: https://doi.org/10.1212/wnl.53.9.2108

Published

2024-03-29

How to Cite

1.
Sorokman TV, Chernei NY, Sokolnyk IS, Ostapchuk VH. Complex phenotype of Tourette syndrome in a ten-year-old boy (a clinical case). Zaporozhye Medical Journal [Internet]. 2024Mar.29 [cited 2024Nov.8];26(2):159-66. Available from: http://zmj.zsmu.edu.ua/article/view/292978