Acta Scientific Otolaryngology (ASOL) (ISSN: 2582-5550)

Case Report Volume 4 Issue 6

Angelman’s Syndrome: A Rare Diagnosis Causing Speech Delay

Isabela Carvalho de Queiroz, Luiza Costa Villela Ferreira, Fernando Massa Correia, Thaís Gomes Abrahão Elias and Fayez Bahmad Jr*

University of Brasilia, Brasilia, DF, Brazil

*Corresponding Author: Fayez Bahmad Jr, University of Brasilia, Brasilia, DF, Brazil.

Received: April 05, 2022; Published: May 18, 2022

Abstract

A report is presented on a brazilian girl, with lack of speech, abnormal motor development and physical features that led to a diagnosis of Angelman’s Syndrome. There was no prior family history. Awareness of this rare condition is important for the otolaryngologist and all physicians in order to provide adequate approach management to patients and improve their quality of life.

Keywords: Angelman Syndrome; Speech; Language Development; Developmental Disabilities; Otolaryngology

References

  1. Angelman Harry. “‘Puppet’ Children A Report on Three Cases”. Developmental Medicine and Child Neurology 7 (1965): 681-688.
  2. Ashrafzadeh, Farah., et al. “Angelman Syndrome: A Case Report”. Iranian Journal of Child Neurology2 (2016): 86-89.
  3. Fiumara Agata., et al. “Epilepsy in patients with Angelman syndrome”. Italian Journal of Pediatrics 36 31 (2010).
  4. Bonello Daniela., et al. “Angelman Syndrome: Identification and Management”. Neonatal Network: NN3 (2017): 142-151.
  5. Knoll J H., et al. “Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion”. American Journal of Medical Genetics2 (1989): 285-290.
  6. Buiting Karin., et al. “Angelman syndrome - insights into a rare neurogenetic disorder”. Nature Reviews Neurology10 (2016): 584-593.
  7. Magenis R E., et al. “Is Angelman syndrome an alternate result of del (15) (q11q13)?”. American Journal of Medical Genetics4 (1987): 829-838.
  8. Madaan Manik and Magda D Mendez. “Angelman Syndrome”. StatPearls, StatPearls Publishing, 14 August (2021).
  9. Jana Nihar Ranjan. “Understanding the pathogenesis of Angelman syndrome through animal models”. Neural Plasticity 2012 (2012): 710943.
  10. Khatri Natasha and Heng-Ye Man. “The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions”. Frontiers in Molecular Neuroscience 12 (2019).
  11. Wolter Justin M., et al. “Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA”. Nature 7833 (2020): 281-284.
  12. Clayton-Smith J and L Laan. “Angelman syndrome: a review of the clinical and genetic aspects”. Journal of Medical Genetics 2 (2003): 87-95.
  13. Williams C A., et al. “Angelman syndrome in a daughter with del (15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother”. American Journal of Medical Genetics3 (1989): 333-338.
  14. Tekin M., et al. “Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation”. American Journal of Medical Genetics2 (2000): 145-149.
  15. Huang Bing and James Bartley. “Partial hexasomy of chromosome 15”. American Journal of Medical Genetics Part A3 (2003): 277-280.
  16. Larson Anna M., et al. “Angelman syndrome in adulthood”. American Journal of Medical Genetics Part A2 (2015): 331-344.
  17. Evangeliou Athanasios., et al. “Ketogenic diet in a patient with Angelman syndrome”. Pediatrics International : Official Journal of the Japan Pediatric Society 5 (2010): 831-834.
  18. Tan Wen-Hann and Lynne M Bird. “Pharmacological therapies for Angelman syndrome”. “Pharmakologische Therapien bei Angelman-Syndrom”. Wiener medizinische Wochenschrift (1946) 167.9-10 (2017): 205-218.
  19. Tan Wen-Hann and Lynne M Bird. “Angelman syndrome: Current and emerging therapies in 2016”. American Journal of Medical Genetics Part C, Seminars in Medical Genetics4 (2016): 384-401.

Citation

Citation: Fayez Bahmad Jr., et al. “Angelman’s Syndrome: A Rare Diagnosis Causing Speech Delay". Acta Scientific Otolaryngology 4.5 (2022): 35-38.

Copyright

Copyright: © 2022 Fayez Bahmad Jr., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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Acceptance rate34%
Acceptance to publication20-30 days
Impact Factor0.871

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