TY  - JOUR
T1  - Investigation of Demographic Characteristics and General Appearance of Individuals with Angelman Syndrome
AU  - Canbay Durmaz, Sevda
AU  - Özmutlu, Pınar
AU  - Canbay, Ali
AU  - Koç Direk, Figen
AU  - Solgun Dağ, Selma
AU  - Güven, Ümran
PY  - 2025
DA  - September
Y2  - 2025
DO  - 10.37990/medr.1656492
JF  - Medical Records
JO  - Med Records
PB  - Tıbbi Kayıtlar Derneği
WT  - DergiPark
SN  - 2687-4555
SP  - 561
EP  - 7
VL  - 7
IS  - 3
LA  - en
AB  - Aim: Angelman syndrome (AS) is an autosomal dominant neurogenetic condition seen in 1 in 10000-22000 as a result of UBE3A gene dysfunction and microdeletion of the 15q11-13 region. The aim of this study is to determine the differences and similarities between individuals with AS by evaluating the demographic characteristics and general appearance of patients diagnosed with AS.Material and Method: Age, gender, weight, height, BMI, weight, height and head circumference at birth, age of parents, type of birth, mother's gestation period, relationship status of mother and father, presence of genetic disease, dead or miscarried siblings number, parental smoking status, first appearance of clinical signs of the disease, epilepsy, scoliosis, sleep, nutrition, and speech problems, laughing attacks, tongue size, gait status, hair and eye color of 79 cases with genetic diagnosed AS case were evaluated.Results: Of the individuals with AS who participated in the study, 40 (50.6%) were boys and 39 (49.4%) were girls. 43 of the patients (54.4%) were walking. The earliest walker among these patients started walking at the age of 3, and the latest walker started walking at the age of 13. 31 (40.5%) of our patients started walking between the ages of 3 and 4. When we asked the families when they noticed the first symptoms, all families realized that there were developmental problems before the child was 24 months old and consulted a physician. In fact, 70 of the families (88.6%) understood the problem before 12 months. When the time of onset of symptoms in boys and girls was compared, it was seen that the onset of symptoms was on average 2.82 months earlier in boys than in girls (p=0.004). The majority of cases with AS were thin, fair-skinned and blue-eyed individuals.Conclusion: The parameters evaluated in our study revealed general and current data about the characteristics of individuals with AS.
KW  - Angelman syndrome
KW  - general appearance
KW  - clinical features
KW  - UBE3A gene
KW  - microdeletion
CR  - Spruyt K, Braam W, Curfs LM. Sleep in angelman syndrome: a review of evidence. Sleep Med Rev. 2018;37:69-84.
CR  - Luk HM, Lo IFM. Angelman syndrome in Hong Kong Chinese: a 20 years’ experience. Eur J Med Genet. 2016;59:315-9.
CR  - Yang L, Shu X, Mao S, et al. Genotype-phenotype correlations in angelman syndrome. Genes (Basel). 2021;12:987.
CR  - Rotaru DC, Woerden vGM, Wallaard I, Elgersma Y. Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome. J Neurosci. 2018;38:8011-30.
CR  - Topal Z, Demir N, Alhan C, Tufan E. Importance of multi-disciplinary approach in the diagnosis and followup of rett syndrome: a case report. Çocuk ve Gençlik Ruh Sağlığı Dergisi. 2012;19:97-101.
CR  - Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12:385-95.
CR  - Du X, Wei L, Yang B, Long S, et al. Cortical and subcortical morphological alteration in Angelman syndrome. J Neurodev Disord. 2023;14:15:7.
CR  - Willgoss T, Cassater D, Connor S, 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. 2021;52:654-68.
CR  - Knezevic T, Petronic İ, Nikolic D, et al. Evaluation of visual evoked potentials in patient with angelmans syndrome - case report. Balkan Med J. 2013;2013:242-3.
CR  - Zampeta FI, Distel B, Elgersma Y, Iping R. From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research. Hum Genet. 2022;141:1837-48.
CR  - den Besten I, de Jong RF, Geerts-Haages A, et al. Clinical aspects of a large group of adults with Angelman syndrome. Am J Med Genet A. 2021;185:168-81.
CR  - Du X, Wang J, Li S, et al. An analysis of phenotype and genotype in a large cohort of Chinese children with angelman syndrome. Genes (Basel). 2022;13:1447.
CR  - Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, et al. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 2020;182:53-63.
CR  - Hnoonual A, Kor-anantakul P, Charalsawadi C, et al. Case report: an atypical angelman syndrome case with obesity and fulfilled autism spectrum disorder identified by microarray. Front Genet. 2021;12:755605.
CR  - Akça Ü, Sanrı A, Akça G, et al. Behind smiling faces: Angelman syndrome. Bozok Med J. 2020;10:100-4.
CR  - Hazan F, Ykut A, Serdaroğlu G, et al. A case with angelman syndrome. Ege Journal of Medicine. 2009;48:195-8.
CR  - Cassater D, Bustamante M, Sach-Peltason L, et al. Clinical characterization of epilepsy in children with angelman syndrome. Pediatr Neurol. 2021;124:42-50.
CR  - Williams CA, Angelman H, Clayton-Smith J, et al. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet. 1995;56:237-8.
CR  - Bindels-de Heus KGCB, Hagenaar DA, Dekker I, et al. Hyperphagia, growth, and puberty in children with angelman syndrome. J Clin Med. 2023;12:5981.
CR  - O’Rourke N, Haverty R, Mannion A, et al. Characterisation of sleep problems in angelman syndrome: a systematic review. Rev J Autism Dev Disord. 2024;23:1-14.
CR  - Lossie AC, Whitney MM, Amidon D, et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001;38:834-45.
CR  - Poyatos D, Guitart M, Gabau E, et al. Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. J Med Genet. 2002;39:E4.
CR  - Thompson RJ, Bolton PF. Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. J Autism Dev Disord. 2003;33:171-6.
CR  - Tsai AC, Gibby T, Beischel L, et al. A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13. Am J Med Genet A. 2004;126A:208-12.
CR  - Saitoh S, Wada T, Okajima M, et al. Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. Brain Dev. 2005;27:389-91.
CR  - Bonati MT, Russo S, Finelli P, et al. Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. Neurogenetics. 2007;8:169-78.
CR  - Hadj‐Rabia S, Schneider H, Navarro E, et al. Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017;1732408-14.
CR  - Clayton-Smith J, Pembrey ME. Angelman syndrome. J Med Genet. 1992;29:412-5.
UR  - https://doi.org/10.37990/medr.1656492
L1  - https://dergipark.org.tr/tr/download/article-file/4684809
ER  -