Genetic diagnosis and speech therapy intervention Tourette syndrome. Report of a case
Keywords:
Tourette syndrome (TS), Tics, Neuropsychiatric disorder, Genetic mutationsAbstract
Gilles de la Tourette syndrome (TS) is a neuropsychiatric disorder that manifests with motor and vocal tics, sometimes accompanied by involuntary interjections and other disorders and impulse control problems. The study describes the case of a 16-year-old young man with relevant family history and motor tics in the face and left arm, along with stuttering. The tics began at age 7 and vocal tics were added at 11. A complete clinical evaluation was conducted, including physical, neurological, psychiatric, and genetic examinations. This evaluation led to a diagnosis of TS. He receives interdisciplinary care that resulted in a mitigation of the disease symptoms.
Downloads
References
2. Baldan LC, Kyle AW, Gallezot JD, et al. Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice. Neuron. 2020; 81:77-90
3. Padilla-Castilla C, Medina PG. Trastorno de Gilles de la Tourette: intervención logopédica. Ull.es [Internet]. 2020 [citado el 14 de mayo de 2023]. Disponible en: https://riull.ull.es/xmlui/bitstream/handle/915/29295/Trastorno-de-Gilles-de- la-Tourette-Intervencion-logopedica.pdf/
4. Lin WD, Tsai FJ, Chou IC. Current understanding of the genetics of tourette syndrome. Biomedical journal. [Internet]. 2022 [citado 2023 Ago 09];45(2), 271–279. Available from: https://doi.org/10.1016/j.bj.2022.01.008
5. Castillo T, Casado-Mendez P, Santos-Fonseca R. Síndrome de Tourette con agregación familiar. Revista del Hospital Psiquiátrico de La Habana [Internet]. 2023 [citado 5 Dic 2023]; 20 (3) Disponible en: https://revhph.sld.cu/index.php/hph/article/view/389
6. Cortés R, Hersei C, Conejero J. Tics y síndrome de Tourette en la infancia: una puesta al día. Rev Med Clin Las Condes [Internet]. 2022 [citado el 14 de mayo de 2023];33(5):480-489. Disponible en: https://doi.org/10.1016/j.rmclc.2022.09.002
7. Urrutia SV, Hernández CH. Descripción de una cohorte pediátrica con síndrome de Gilles de la Tourette. [A pediatric cohort with Gilles de la Tourette syndrome] Andes Pediatr [Internet]. 2021 [citado el 14 de mayo de 2023];92(6):838-846. Disponible en: https://doi.org/10.32641/andespediatr.v92i6.3304.
8. Solórzano Vélez NA. El Síndrome de Tourette y sus efectos en el aprendizaje escolar de una estudiante de noveno grado de educación básica superior. [Tesis de magister]. Universidad Estatal Península de Santa Elena. Santa Elena. Ecuador. 2022. Disponible en: https://repositorio.upse.edu.ec/bitstream/46000/8255/1/UPSE-MPS-2022-0021.pdf
9. Santos MLS, Gregorutti CC, Lins SRA. Síndrome de Tourette no Brasil: uma revisão de escopo. Rev Neurocienc [Internet]. 1º de dezembro de 2023 [citado 6º de dezembro de 2023];31:1-25. Disponível em: https://periodicos.unifesp.br/index.php/neurociencias/article/view/15658
10. Eirís Puñal J. Tics y Tourette. Pediatr Integral. [Internet]. 2020 [citado 2023 Ago 09];XXIV(7):394–404. Disponible en: https://www.pediatriaintegral.es/publicacion-2020-10/tics-y-tourette/
11. Parra-Parra B, Canales-Mejicano J. Síndrome de Tourette: necesidad de un tratamiento integral e interdisciplinario. Revista Hispanoamericana De Ciencias De La Salud. [Internet]. 2021 [citado 2023 Ago 09];6(4):236–237. Disponible en: https://doi.org/10.56239/rhcs.2020.64.455
Published
How to Cite
Issue
Section
License
Those authors who have publications with this journal accept the following terms:
The authors will retain their copyright and guarantee the journal the right of first publication of their work, which will be under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0) that allows the use of the work to share (copy and redistribute the material in any medium or format) and adapt (remix, transform and build on the material) as long as mention is made of the publication in the journal as the primary source. However, you will not be able to trade with it.
The authors may adopt other non-exclusive license agreements for the distribution of the version of the published work (eg: deposit it in an institutional telematic file or preprint servers) provided that the initial publication in this journal is indicated.
The Cuban Health Technology Magazine is authorized by a Creative Commons Attribution-NonCommercial 4.0 International License.
