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2021, vol. 20, iss. 2, pp. 127-144
Clinical and cognitive characteristics of Angelman syndrome
aUniversity of Belgrade, Faculty for Special Education and Rehabilitation, Serbia
bUstanova za decu i mlade "Sremčica", Beograd
Designig a protocol for Assessing the Educational potentials of Children with Disabilities as a Criterion for Development of Individual Educational Programs (MESTD - 179025)
Social participation of persons with intellectual disabilities (MESTD - 179017)

Keywords: Angelman syndrome; intellectual disability; clinical characteristics; cognitive characteristics; speech; (re)habilitation
Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor schemes that represent cognitive structures of the earliest childhood is characteristic for Angelman syndrome. Receptive speech skills are more developed than expressive ones, which usually do not exist. Supportive therapy, which includes interventions in early childhood, speech therapy and occupational programs, is very important for treatment within this clinical picture. Conclusion. It is necessary to improve the process of assessing cognitive and speech skills due to the targeted creation of an individual cognitive-speech developmental profile. It is also crucial to identify urgent areas that require treatment and in which individual and family support should be provided.
*** (2018) Pravilnik o bližim uputstvima za utvrđivanje prava na individualni obrazovni plan, njegovu primenu i vrednovanje. Službeni glasnik Republike Srbije, br. 74/18
Andersen, W.H., Rasmussen, R.K., Stromme, P. (2001) Levels of cognitive and linguistic development in Angelman syndrome: A study of 20 children. Logopedics Phoniatrics Vocology, 25(1): 2-9
Berg, E.L., Pride, M.C., Petkova, S.P., Lee, R.D., Copping, N.A., Shen, Y., Adhikari, A., Fenton, T.A., Pedersen, L.R., Noakes, L.S., Nieman, B.J., Lerch, J.P., Harris, S., Born, H.A., Peters, M.M., Deng, C.P., On, D.L., Fink, K.D., Beitnere, U., Silverman, J.L. (2020) Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. Translational Psychiatry, 10(39): 1-16
Bindels-De, H.K.G., Mous, S.E., ten Hooven-Radstaake, M., van Iperen-Kolk, B.M., Navis, C., Rietman, A.B., ten Hoopen, B.M., Brooks, A.S., ENCORE Expertise Center For AS, Moll, H.A., de Wit, M.C.Y. (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. American Journal of Medical Genetics Part A, 182(1): 53-63
Bird, L.M. (2014) Angelman syndrome: Review of clinical and molecular aspects. Application of Clinical Genetics, 7: 93-104
Calculator, S.N. (2013) Parents' reports of patterns of use and exposure to practices associated with AAC acceptance by individuals with Angelman syndrome. Augmentative and Alternative Communication, 29(2): 146-158
Calculator, S.N. (2014) Parents' perceptions of communication patterns and effectiveness of use of augmentative and alternative communication systems by their children with Angelman syndrome. American Journal of Speech-Language Pathology, 23(4): 562-573
Calculator, S.N. (2015) AAC considerations for individuals with Angelman syndrome. Perspectives on Augmentative and Alternative Communication, 24(3): 106-113
Campos, J.G., Moya, C., Guevara-Gonzâlez, J., Rendon, I.D. (2016) Angelman syndrome: Clinical aspects. Austin Journal of Clinical Neurology, 3(3): Article 1096
Clayton-Smith, J., Laan, L. (2003) Angelman syndrome: A review of the clinical and genetic aspects. Journal of Medical Genetics, 40(2): 87-95
Costanzo, F., Varuzza, C., Menghini, D., Addona, F., Gianesini, T., Vicari, S. (2013) Executive functions in intellectual disabilities: A comparison between Williams syndrome and Down syndrome. Research in Developmental Disabilities, 34(5): 1770-1780
Den, B.I., de Jong, R.F., Geerts-Haages, A., Bruggenwirth, H.T., Koopmans, M., ENCORE Expertise Center For AS 18+, Brooks, A., Elgersma, Y., Festen, D.A.M., Valstar, M.J. (2021) Clinical aspects of a large group of adults with Angelman syndrome. American Journal of Medical Genetics Part A, 185(1): 168-181
Djuric-Zdravkovic, J.A.M., Macesic-Petrovic, D. (2011) Arithmetic operations and attention in children with intellectual disabilities. Education and Training in Autism and Developmental Disabilities, 46(2): 214-219,
Đurić-Zdravković, A. (2020) Pedagogija osoba s poremećajem intelektualnog razvoja. Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitaciju
Đurić-Zdravković, A., Japundža-Milisavljević, M., Maćešić-Petrović, D. (2011) Thinking structures and mathematical achievements in children with mild intellectual disabilities. Croatian Journal of Education, 13(3): 142-176
Đurić-Zdravković, A., Japundža-Milisavljević, M., Milanović-Dobrota, B., Banković, S. (2019) Igra i socijalne veštine vrtićke dece s mešovitim specifičnim poremećajima razvoja. Specijalna edukacija i rehabilitacija, vol. 18, br. 4, str. 419-441
Grieco, J.C., Romero, B., Flood, E., Cabo, R., Visootsak, J. (2019) A conceptual model of Angelman syndrome and review of relevant clinical outcomes assessments (COAs). Patient - Patient-Centered Outcomes Research, 12(1): 97-1L2
Heald, M., Adams, D., Oliver, C. (2020) Profiles of atypical sensory processing in Angelman, Cornelia de Lange and fragile X syndromes. Journal of Intellectual Disability Research, 64(2): 117-130
Heald, M., Adams, D., Walls, E., Oliver, C. (2021) Refining the behavioral phenotype of Angelman syndrome: Examining differences in motivation for social contact between genetic subgroups. Frontiers in Behavioral Neuroscience, 15: Article 618271
Institut Za Javno Zdravlje Srbije Dr Milan Jovanovic Batut (2018) Program rada i razvoja Instituta za javno zdravlje Srbije 'Dr Milan Jovanovic Batut' (2019-2023). Instituta%202019%E2%80%932023 .pdf
Japundza-Milisavljevic, M., Djuric-Zdravkovic, A. (2017) Executive functions and mathematical achievements by students with mild intellectual disabilities. Voprosy psikhologii, (6): 43-55
Kalsner, L., Chamberlain, S.J. (2015) Prader-Willi, Angelman, and 15qll-ql3 duplication syndromes. Pediatric Clinics of North America, 62(3): 587-606
Keute, M., Miller, M.T., Krishnan, M.L., Sadhwani A., Chamberlain, S., Thibert R.L., Tan, W.-H., Bird, L.M., Hipp, J.F. (2020) Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Molecular Psychiatry, Advance online publication
Key, A.P., Jones D., Peters, S., Dold, C. (2018) Feasibility of using auditory eventrelated potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome. Brain and Cognition, 128(1): 73-79
Khan, N., Cabo, R., Tan, W.-H., Tayag, R., Bird, L.M. (2019) Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. Molecular Genetics & Genomic Medicine, 7(7): Article e00734
Kocaoglu, Q. (2017) Two sisters with Angelman Syndrome: A case series report. Journal of Pediatric Neurosciences, 12(4): 383-385
Kolevzon, A., Ventola, P., Keary, C.J., Heimer, G., Neul J.L., Adera, M., Jaeger, J. (2021) Development of an adapted Clinical Global Impression scale for use in Angelman syndrome. Journal of Neurodevelopmental Disorders, 13: Article 3
Larson, A.M., Shinnick J.E., Shaaya, E.A., Thiele, E.A., Thibert, R.L. (2015) Angelman syndrome in adulthood. American Journal of Medical Genetics Part A, 167(2): 331-344
Le, F.A., Beygo, J., Silveira, C., Kamien, B., Clayton-Smith, J., Colley, A., Buiting, K., Dudding-Byth, T. (2017) Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. American Journal of Medical Genetics Part A, 173(3): 753-757
Maltese, A., Salerno, M., Tripi, G., Romano, P., Ricciardi, A., Folco, A., di Filippo, T., Parisi, L. (2017) The Angelman syndrome: A brief review. Acta Medica Mediterránea, 33(4): 667-673
Manob, A.F. (2020) HenponcnxonornHecKne paccTponcTBa npn CHH^poMe AHrentMaHa [Neuropsychological disorders in Angelman syndrome]. Coquanbnue u zyManumapHbie Hayxu: meopun, u npaxmuxa, 1(4): 414-423
Margolis, S.S., Sell, G.L., Zbinden, M.A., Bird, L.M. (2015) Angelman syndrome. Neurotherapeutics, 12(3): 641-650
Micheletti, S., Palestra, F., Martelli, P., Accorsi, P., Galli, J., Giordano, L., Trebeschi, V., Fazzi, E. (2016) Neurodevelopmental profile in Angelman syndrome: More than low intelligence quotien. Italian Journal of Pediatrics, 42(1): Article 91
Micheletti, S., Vivanti, G., Renzetti, S., Martelli, P., Calza, S., Imitation, I.A.S.G., Fazzi, E. (2020) Imitation in Angelman syndrome: The role of social engagement. Scientific Reports, 10(1): Article 16398
Ostrowski, L.M., Spencer, E.R., Bird, L.M., Thibert, R., Komorowski, R.W., Kramer, M.A., Chu, C.J. (2021) Delta power robustly predicts cognitive function in Angelman syndrome. Annals of Clinical and Translational Neurology, 8(7): 1433-1445
Page, M.J., Moher, D., Bossuyt, P.M., Boutron, I., Hoffmann, T.C., Mulrow, C.D., Shamseer, L., Tetzlaff, J.M., Akl, E.A., Brennan, S.E., Chou, R., Glanville, J., Grimshaw, J.M., Hrôbjartsson, A., Lalu, M.M., Li, T., Loder, M.E.W.E., McDonald, S., McKenzie, J.E. (2021) PRISMA 2020 explanation and elaboration: Updated guidance and exemplars for reporting systematic reviews. BMJ, 372: Article n160
Pearson, E., Wilde, L., Heald, M., Royston, R., Oliver, C. (2019) Communication in Angelman syndrome: A scoping review. Developmental Medicine & Child Neurology, 6/(11): 1266-1274
Peters, S.U., Goddard-Finegold, J., Beaudet, A.L., Madduri, N., Turcich, M., Bacino, C.A. (2004) Cognitive and adaptive behavior profiles of children with Angelman syndrome. 128 (2): 110-113
Prasad, A., Grocott, O., Parkin, K., Larson, A., Thibert, R.L. (2018) Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. American Journal of Medical Genetics Part A, 176(6): 1327-1334
Quinn, E.D., Rowland, C. (2017) Exploring expressive communication skills in a cross-sectional sample of children and young adults with Angelman syndrome. American Journal of Speech-Language Pathology, 26(2): 369-382
Rebrović-Čančarević M. (2015) Klinički i rehabilitacijski aspekti Angelmanovog sindroma. Hrvatska revija za rehabilitacijska istraživanja, 51(2): 87-95
Roche, L., Sigafoos, J., Trembath, D. (2020) Augmentative and alternative communication intervention for people with Angelman syndrome: A systematic review. Current Developmental Disorders Reports, 7(1): 28-34
Sadhwani, A., Wheeler, A., Gwaltney, A., Peters, S.U., Barbieri-Welge, R.L., Horowitz, L.T., Noll, L.M., Hundley, R.J., Bird, L.M., Tan, W.-H. (2021) Developmental skills of individuals with Angelman syndrome assessed using the Bayley-III. Journal of Autism and Developmental Disorders, Advance online publication
Sahoo, T., Peters, S.U., Madduri, N.S., Glaze, D.G., German, J.R., Bird, L.M., Barbieri-Welge, R., Bichell, T.J., Beaudet, A.L., Bacino, C.A. (2006) Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: Genotype-phenotype correlations. Journal of Medical Genetics, 43(6): 512-516
Samanta, D. (2021) Epilepsy in Angelman syndrome: A scoping review. Brain and Development, 43(1): 32-44
Sazhenova, E.A., Lebedev, I.N. (2021) Evolutionary aspects of genomic imprinting. Molecular Biology, 55(1): 1-15
Schmid, R.S., Deng, X., Panikker, P., Msackyi, M., Breton, C., Wilson, J.M. (2021) CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice. Journal of Clinical Investigation, 131(5): Article e142574
Sidorov, M.S., Judson, M.C., Kim, H., Rougie, M., Ferrer, A.I., Nikolova, V.D., Riddick, N.V., Moy, S.S., Philpot, B.D. (2018) Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. Journal of Neuroscience, 38(11): 2671-2682
Summers, J. (2019) Using behavioral approaches to assess memory, imitation and motor performance in children with Angelman syndrome: Results of a pilot study. Developmental Neurorehabilitation, 22(8): 516-526
Thibert, R.L., Larson, A.M., Hsieh, D.T., Raby, A.R., Thiele, E.A. (2013) Neurologic manifestations of Angelman syndrome. Pediatric Neurology, 48(A): 271-279
Walz, N.C. (2007) Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. Journal of Autism and Developmental Disorders, 37(5): 940-947
Walz, N.C., Benson, B.A. (2002) Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome, or Angelman syndrome. Journal of Developmental and Physical Disabilities, 14(4): 307-321
Wheeler, A.C., Sacco, P., Cabo, R. (2017) Unmet clinical needs and burden in Angelman syndrome: A review of the literature. Orphanet Journal of Rare Diseases, 12(1): Article 164
Willgoss, T., Cassater, D., Connor, S., Krishnan, M.L., Miller, M.T., Dias-Barbosa, C., Phillips, D., McCormack, J., Bird, L.M., Burdine, R.D., Claridge, S., Bichell, T.J. (2020) Measuring what matters to individuals with Angelman syndrome and their families: Development of a patient-centered disease concept model. Child Psychiatry & Human Development, 52(4): 654-668
Williams, C.A., Driscoll, D.J., Dagli, A.I. (2010) Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(1), 385-395
Williams, C.A. (2005) Angelman syndrome. in: Butler M.G.; Meaney F.J. [ed.] Genetics of developmental disabilities, Taylor & Francis Group, 319-335


article language: Serbian
document type: Review Paper
DOI: 10.5937/specedreh20-32634
received: 06/06/2021
revised: 23/07/2021
accepted: 11/08/2021
published in SCIndeks: 10/09/2021
peer review method: double-blind
Creative Commons License 4.0

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