Investigation of Demographic Characteristics and General Appearance of Individuals with Angelman Syndrome

Abstract

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.

Keywords

• Angelman syndrome
• general appearance
• clinical features
• UBE3A gene
• microdeletion

Kaynakça

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