Craniofacial disorders in the course of Angelman syndrome - a review of the literature

Katarzyna Brukiewicz, Oskar Komisarek

DOI: http://dx.doi.org/10.12775/JEHS.2020.10.06.015

Abstract


Angelman syndrome is a neurogenetic disorder with an estimated prevalence of 1 in 10.000 to 1 in 40.000 cases. Clinical presentation is based on characteristic neurobehavioral and emotional disorders, a function of the nervous and pulmonary system as well as dysmorphic features within craniofacial and neurocranium. The aim of the study is an evaluation based on the literature reviewing disorders in the craniofacial region in patients with Angelman Syndrome, with particular emphasis on the oral cavity. Literature from the PubMed base and the Main Medical Library from the last 30 years was analysed. sixteen items were obtained; after verification,  the requirements were met by 16 publications, which together contained a description of the craniofacial and oral cavity disorders in 226 patients. Disorders associated with Angelman syndrome affected many aspects related to health, basic life functions and interpersonal relationships. Proper substantive preparation for working with such a patient enables effective prevention and health monitoring, adjustment of the treatment plan, as well as readiness for any unexpected situations.


Keywords


Angelman Syndrome

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References


M. Maguire, Anaesthesia for an adult with Angelman syndrome, Anaesthesia, 2009;64(11):1250-3.

Bo Sung Kim, Jin Seok Yeo, Si Oh Kim, Anesthesia of a dental patient with Angelman syndrome-A case report-, Korean J Anesthesiol., 2010;58(2): 207–210.

Rohit Sachdeva, Sarah J. Donkers, Soo Y. Kim, Angelman Syndrome: A Review Highlighting Musculoskeletal and Anatomical Aberrations, Clin Anat., 2016;29(5):561-7.

C. Gallo, A. Marcato, M. Beghetto, E. Stellini, Dental treatment in Angelman syndrome patients. 8 Case reports, Eur J Paediatr Dent, 2012;13(4):345-8.

M. Felícitas Domínguez-Berjón, Ana Clara Zoni, María D Esteban-Vasallo, Juan Manuel Sendra-Gutiérrez, Jenaro Astray-Mochales, Main causes of hospitalization in people with Angelman syndrome, J Appl Res Intellect Disabil., 2017;31(3):466-469.

Aleksandra Cˇalic ́, DMD/Borut Peterlin, MD, PhD, Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism, Int J Prosthodont., 2015;28(6):594-9.

Laurie E. Seltzer, Alex R. Paciorkowski, Genetic Disorders Associated With Postnatal Microcephaly, Am J Med Genet Part C, 2014;9999:1–16.

Nagore Elu, Nerea Osinalde, Javier Beaskoetxea, Juanma Ramirez, Benoit Lectez, Kerman Aloria, Jose Antonio Rodriguez, Jesus M. Arizmendi, Ugo Mayor, Detailed Dissection of UBE3A - Mediated DDI1 Ubiquitination, Front Physiol., 2019;10: 534.

Fukiyama Y, Tonari M, Matsuo J, Oku H, Sugasawa J, Shimakawa S, Ogihara T, Okamoto N, Ikeda T, A case of Fundus Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing, Case Rep Ophthalmol, 2018;9:102–107.

Kristin A. Bakke, Patricia Howlin, Lars Retterstø, Øivind J. Kanavin, Arvid Heiberg, Terje Nærland, Effect of epilepsy on autism symptoms in Angelman syndrome, Mol Autism., 2018;9: 2.

Christiana Murakami, Maria Salete Nahás Pires Corrêa, Fernanda Nahás Pires Corrêa, José Paulo Nahás Pires Corrêa, Dental treatment of children with Angelman syndrome: a case report, Spec Care Dentist., 2008;28(1):8-11.

Sarkar PA, Shigli A, Patidar C., Happy Puppet syndrome. BMJ Case Rep., 2011:bcr0920114747.

Alexandra Mussolino de Queiroz, Talitha de Siqueira Melara, Paula Dariana Fernandes Ferreira, Marília Pacífico Lucisano, Andiara De Rossi, Paulo Nelson-Filho, Raquel Assed Bezerra Silva, Dental findings and special care in patients with Angelman syndrome: a report of three cases, Spec Care Dentist., 2013;33(1):40-5.

Chunawalla Yusuf, Morawala Abdul, Jain Kapil, Naqiyah Khandwawal, Angelman Syndrome: a case report, International Journal of Current Research, 2018;10, (01), 63993-63996.

Çelebi Kocaoğlu, Two Sisters with Angelman Syndrome: A Case Series Report, J Pediatr Neurosci.,2017; 12(4): 383–385.

Farah Ashrafzadeh, Arianeh Sadrnabavi, Javad Akhondian, Mehran Beiraghi Toosi, Mohammadhassan Mohammadi, Kazem Hassanpour, Angelman Syndrome: Case Report, Iran J Child Neurol., 2016;10(2): 86–89.

Jagath C. Ranasinghe, Damitha Chandradasa, Sanjaya Fernando, Uditha Kodithuwakku, D.E.N. Mandawala, Vajira HW Dissanayake, Angelman Syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report, Journal of Medical Case Reports, 2015; 142.

Cintia Fridmanaib, Monica C Varela, Robert D Nicholls Celia P Koiffmann, Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q, Clinical Genetics,1998;54(4):303-308.

Andrea Van Lierde, Maria Gabriella Atza, Daniela Giardino, Francesco Viani, Angelmans Syndrome in the First Year of Life, Dev Med Child Neurol., 1990;32(11):1011-6.

Ana Teresa Hernandes Teodoro, Daphyne Yachel Chaves, Patrícia Abreu Pinheiro Crenitte, Simone Rocha de Vasconcellos Hage, Dionísia Aparecida Cusin Lamônica, Language, neurodevelopment, and behavior in Angelman syndrome: a case report, CoDAS, 201931(4):e20180177.

K. R. Ramanathan D. Muthuswamy B. J. Jenkins, Anaesthesia for Angelman syndrome, Anaesthesia., 2008;63(6):659-61.

Saitoh S1, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, et al., Molecular and clinical study of 61 Angelman syndrome patients., Am J Med Genet., 1994;52(2):158-63.

Smith A1, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ., Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion., 1996;33(2): 107–112

Sabrina Buoni, Salvatore Grosso, Lucia Pucci, Alberto Fois, Diagnosis of Angelman syndrome: clinical and EEG criteria, J Med Genet., 1999;33(2):107-12.

Jill Clayton-Smith, Clinical Research on Angelman Syndrome in the United Kingdom: Observations on 82 Affected Individuals, Am J Med Genet., 1993;46(1):12-5.

Bai JL, Qu YJ, Jin YW, Wang H, Yang YL, Jiang YW, Yang XY, Zou LP, Song F., Molecular and clinical characterization of Angelman syndrome in Chinese patients., Clin Genet., 2014;85(3):273-7.

Amy Lawson-Yuen, Bai-Lin Wu, Va Lip, Trilochan Sahoo, Virginia Kimonis, Atypical Cases of Angelman Syndrome, Am J Med Genet A., 2006;140(21):2361-4.


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