Genetic and clinical aspects in Angelman Syndrome: a comparison of 6 clinical cases
Keywords:
ANGELMAN SYNDROME, GENES, CHROMOSOMES.Abstract
Introduction: intellectual Development Disorders are conditions involving cognitive, learning and behavioral limitations. Patients with Angelman syndrome show severe neurodevelopmental delay, with unique phenotypic features, alterations in behavior, movement and communication.
Objective: to describe the etiology and genetic mechanisms involved in Angelman syndrome and to identify treatment protocols.
Methods: an exhaustive collection of documents guided by PRISMA methodology was performed, addressing the association of genes to Angelman Syndrome. The databases used included PubMed, Scielo and Clinical Key. To optimize the process, the search was performed using terms such as “Angelman Syndrome”, “Ubiquitin Protein Ligase”, “UBE3A gene” and “TDI”.
Results: the etiology of Angelman syndrome is the modification of the UBE3A gene which is located in the 15q11-q13 region. Mainly caused by deletion in chromosome 15q11-q13, causing mainly intellectual developmental disability, loss of communication, movement problems, seizures, sleep disorders. Its clinical diagnosis is late and in some places it is not possible to perform molecular tests properly. The restriction of numerous studies is due to the small number of patients belonging to a specific genotype, especially in those cases that do not involve deletions.
Conclusions: it was possible to increase knowledge on the etiology and genetic mechanisms involved in Angelman Syndrome and to identify protocols to be followed to treat these patients, both physical and neurological, as well as supportive therapies.
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References
2. Lopez-Pajaro LF, Ruiz-Antoran B, Marin-Serrano E, Cazorla-Calleja R, Iglesias-Escalera G, Lara-Herguedas J, et al. Descriptive analysis of the electroencephalogram in Angelman syndrome. Rev Neurol [Internet]. 2021 [Citado 05/05/2024]; 72(2): 51-60. Disponible en: https://portalcientifico.uah.es/documentos/623f7fa8c8882379aff07fe0?lang=gl
3. Samanta D. Epilepsy in Angelman syndrome: A scoping review. Brain Dev [Internet]. [Citado 05/05/2024]; 43(1): 32-44. Disponible en: https://doi.org/10.1016/j.braindev.2020.08.014
4. García Ramírez M, Csanyi B, Martínez Antón J, Delgado Marqués M, Bauzano Poley E. Síndrome de Angelman: diagnóstico genético y clínico. Revisión de nuestra casuística. An Pediatría [Internet]. 2008 [Citado 05/05/2024]; 69(3): 232-8. Disponible en: https://dialnet.unirioja.es/servlet/articulo?codigo=7403344
5. Solera Jiménez S. Tratamiento fisioterápico de los niños con síndrome de Angelman. REDUCA (Enfermería, Fisioter y Podol [Internet]. 2013 [Citado 05/05/2024]; 5(2): 1-52. Disponible en: http://www.revistareduca.es/index.php/reduca-enfermeria/article/view/1563
6. Añorga AG, Urritxi LD, Sancho NB. Life stories of families with sons and daughters with Angelman syndrome. Siglo Cero [Internet]. 2019 [Citado 05/05/2024]; 50(4): 23-37. Disponible en: http://dx.doi.org/10.14201/scero20195042337
7. Ramirez de la Fuente R. SÍNDROME DE ANGELMAN Una Enfermedad Incapacitante en la Infancia. REVISIÓN BIBLIOGRÁFICA [Tesis]. Universidad de JAÉN. Centro de Estudio de Postgrado; 2021 [Citado 05/05/2024]. Disponible en: https://crea.ujaen.es/bitstream/10953.1/17588/1/TFM%20DEPENDENCIA.pdf
8. Navarro EG. Genética clínica y dismorfología: Generalidades. Rev Esp Pediatr [Internet]. 2009 [Citado 05/05/2024]; 65(1): 12-4. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/ibc-89349
9. Gabau E, Aguilera C, Baena N, Ruiz A, Guitart M. Enfermedades por alteración de la impronta genética. Síndrome de prader willi y de angelman. Pediatr Integr [Internet]. 2019 [Citado 05/05/2024]; 23(5): 249-57. Disponible en: https://www.pediatriaintegral.es/publicacion-2019-07/enfermedades-por-alteracion-de-la-impronta-genetica-sindrome-de-prader-willi-y-de-angelman/
10. Moraleda Sepúlveda E, López Resa P, Delgado Matute S, Frontera R, Cañadas Camacho E. Calidad de vida en familias con personas con síndrome de Angelman. Rev INFAD Psicol Int J Dev Educ Psychol [Internet]. 2021 [Citado 05/05/2024]; 1(1): 283-8. Disponible en: https://revista.infad.eu/index.php/IJODAEP/article/view/2064
11. ASA-angelman. Diagnóstico [Internet]. Disponible en: https://angelman-asa.org/diagnostico
12. Ruiz-Antoran B, Sancho-López A, Cazorla-Calleja R, López-Pájaro LF, Leiva Á, Iglesias-Escalera G, et al. A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study). Orphanet J Rare Dis [Internet]. 2018 [Citado 05/05/2024]; 13(1): 1-10. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102900/
13. Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics [Internet]. 2015 [Citado 05/05/2024]; 12(3): 641-50. Disponible en: https://pubmed.ncbi.nlm.nih.gov/26040994/
14. Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: A review of the literature. Orphanet J Rare Dis [Internet]. 2017 [Citado 05/05/2024]; 12(1): 1-17. Disponible en: https://pubmed.ncbi.nlm.nih.gov/29037196/
15. Willgoss T, Cassater D, Connor S, Krishnan ML, Miller MT, Dias-Barbosa C, et al. Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model. Child Psychiatry Hum Dev [Internet]. 2021 [Citado 05/05/2024]; 52(4): 654-68. Disponible en: https://doi.org/10.1007/s10578-020-01051-z
