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ISSN 1028-9933 (Electronic)

2022, Number 5

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RIC 2022; 101 (5)

Angelman Syndrome

Cobo-Álvarez DA, Veloz-Pico AC, Samaniego-Vargas AS.

Language: Spanish
References: 30
Page: 1-11
PDF size: 694.60 Kb.


ABSTRACT

Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance problems (ataxia), seizures and very small head. People with Angelman Syndrome always seem to be in a good mood and smile a lot.
Objective: To systematize knowledge about the characteristics of Angelman Syndrome, clinical and genetic aspects of the disease and current treatment strategies.
Method: A bibliographic review was carried out at the Universidad Regional Autónoma de los Andes, by searching in national and international databases such as PubMed, Scopus, SciELO, Web of Science and Google Scholar. For the investigation a search strategy was used. Forty-five articles were found, of which 15 were selected for this review.
Results: A synthesized text was elaborated where aspects such as etiology, diagnosis, main clinical symptoms and treatment of this genetic disorder were addressed.
Conclusions: Due to its nature of clinical needs that are not met in terms of the motor area, communication, sleep and behavior, Angelman syndrome makes it necessary for nursing professionals to develop an action plan that allows an early diagnosis and develop a plan specific care for the individual and the intimate environment of action to respond to the needs on demand.


REFERENCES

  1. Ramírez de la Fuente R. Síndrome de Angelman. Una enfermedad incapacitante de la infancia. tauja.ujaen.es. 2022 [citado 29/08/2022]. Disponible en: http://tauja.ujaen.es/jspui/handle/10953.1/175881.

  2. Añorga Goitia A, Darretxe Urrutxi L, Berasategi Santxo N. Historias de vida de familias con hijos e hijas con síndrome de Angelman. Siglo Cero: Rev Esp Discap Intelec [Internet]. 2019 [citado 23/08/2022]; 50(4):23-37. Disponible en: https://dialnet.unirioja.es/servlet/articulo?codigo=72770622.

  3. 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 Ago [citado 27/08/2022]; 13(1):144. DOI: https://doi.org/10.1186/s13023-018-0891-63.

  4. ASA-angelman. Diagnóstico. angelman-asa.org. [citado 27/08/2022]. Disponible en: https://angelman-asa.org/diagnostico4.

  5. 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 Oct [citado 27/08/2022]; 12(1):164. DOI: https://doi.org/10.1186/s13023-017-0716-z5.

  6. Artigas-Pallarés J, Brun-Gasca C, Gabau-Vila E, Guitart-Feliubadaló M, Camprubí-Sánchez C. Medical and behavioural aspects of Angelman syndrome. Rev Neurol [Internet]. 2005 Dic [citado 23/08/2022]; 41(11):649-56. Disponible en: https://pubmed.ncbi.nlm.nih.gov/16317633/6.

  7. ASA-angelman. INICIO. angelman-asa.org. [citado 23/08/2022]. Disponible en: https://angelman-asa.org/7.

  8. Faife Abril LC, Mayo Chirino IV. Síndrome de Angelman. Rev Cubana Med Gen Int [Internet]. 2012 Sep [citado 23/08/2022]; 28(3):331-9. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-21252012000300013&lng=es&nrm=iso&tlng=es8.

  9. Herber DL, Weeber EJ, D'Agostino DP, Duis J. Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial. Trials [Internet]. 2020 Ene [citado 23/08/2022]; 21:60. DOI: https://doi.org/10.1186%2Fs13063-019-3996-x9.

  10. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. Orphanet J Rare Dis [Internet]. 2019 Nov [citado 27/08/2022]; 14(1):239. DOI: https://doi.org/10.1186/s13023-019-1210-610.

  11. Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Angelman syndrome in adulthood. Am J Med Genet [Internet]. 1996 Dic [citado 27/08/2022]; 66(3):356-60. DOI: https://doi.org/10.1002/(sici)1096-8628(19961218)66:3%3C356::aid-ajmg21%3E3.0.co;2-k11.

  12. 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 Psyc Hum Dev [Internet]. 2021 Ago [citado 23/08/2022]; 52(4):654-68. DOI: https://doi.org/10.1007/s10578-020-01051-z12.

  13. National Center for Advancing Translational Sciences. Síndrome de Angelman. rarediseases.info.nih.gov. [citado 23/08/2022]. Disponible en: https://rarediseases.info.nih.gov/espanol/12714/sindrome-de-angelman13.

  14. Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics [Internet]. 2015 Jul [citado 21/08/2022]; 12(3):641-50. DOI: https://doi.org/10.1007/s13311-015-0361-y14.

  15. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, et al. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psych [Internet]. 2021 Jul [citado 21/08/2022]; 26(7):3625-33. Disponible en: https://www.nature.com/articles/s41380-020-0858-615.

  16. Ramírez de la Fuente R. Síndrome de Angelman. Una enfermedad incapacitante de la infancia. tauja.ujaen.es. 2022 [citado 29/08/2022]. Disponible en: http://tauja.ujaen.es/jspui/handle/10953.1/175881.

  17. Añorga Goitia A, Darretxe Urrutxi L, Berasategi Santxo N. Historias de vida de familias con hijos e hijas con síndrome de Angelman. Siglo Cero: Rev Esp Discap Intelec [Internet]. 2019 [citado 23/08/2022]; 50(4):23-37. Disponible en: https://dialnet.unirioja.es/servlet/articulo?codigo=72770622.

  18. 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 Ago [citado 27/08/2022]; 13(1):144. DOI: https://doi.org/10.1186/s13023-018-0891-63.

  19. ASA-angelman. Diagnóstico. angelman-asa.org. [citado 27/08/2022]. Disponible en: https://angelman-asa.org/diagnostico4.

  20. 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 Oct [citado 27/08/2022]; 12(1):164. DOI: https://doi.org/10.1186/s13023-017-0716-z5.

  21. Artigas-Pallarés J, Brun-Gasca C, Gabau-Vila E, Guitart-Feliubadaló M, Camprubí-Sánchez C. Medical and behavioural aspects of Angelman syndrome. Rev Neurol [Internet]. 2005 Dic [citado 23/08/2022]; 41(11):649-56. Disponible en: https://pubmed.ncbi.nlm.nih.gov/16317633/6.

  22. ASA-angelman. INICIO. angelman-asa.org. [citado 23/08/2022]. Disponible en: https://angelman-asa.org/7.

  23. Faife Abril LC, Mayo Chirino IV. Síndrome de Angelman. Rev Cubana Med Gen Int [Internet]. 2012 Sep [citado 23/08/2022]; 28(3):331-9. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-21252012000300013&lng=es&nrm=iso&tlng=es8.

  24. Herber DL, Weeber EJ, D'Agostino DP, Duis J. Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial. Trials [Internet]. 2020 Ene [citado 23/08/2022]; 21:60. DOI: https://doi.org/10.1186%2Fs13063-019-3996-x9.

  25. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. Orphanet J Rare Dis [Internet]. 2019 Nov [citado 27/08/2022]; 14(1):239. DOI: https://doi.org/10.1186/s13023-019-1210-610.

  26. Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Angelman syndrome in adulthood. Am J Med Genet [Internet]. 1996 Dic [citado 27/08/2022]; 66(3):356-60. DOI: https://doi.org/10.1002/(sici)1096-8628(19961218)66:3%3C356::aid-ajmg21%3E3.0.co;2-k11.

  27. 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 Psyc Hum Dev [Internet]. 2021 Ago [citado 23/08/2022]; 52(4):654-68. DOI: https://doi.org/10.1007/s10578-020-01051-z12.

  28. National Center for Advancing Translational Sciences. Síndrome de Angelman. rarediseases.info.nih.gov. [citado 23/08/2022]. Disponible en: https://rarediseases.info.nih.gov/espanol/12714/sindrome-de-angelman13.

  29. Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics [Internet]. 2015 Jul [citado 21/08/2022]; 12(3):641-50. DOI: https://doi.org/10.1007/s13311-015-0361-y14.

  30. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, et al. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psych [Internet]. 2021 Jul [citado 21/08/2022]; 26(7):3625-33. Disponible en: https://www.nature.com/articles/s41380-020-0858-615.




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