Angelman syndrome is a genetic condition where the nervous system is affected. Children affected by Angelman syndrome tend to have a happy personality and have a tendency to enjoy water. Symptoms of Angelman syndrome tend to become more noticeable by one year of age.
Angelman syndrome is thought to be due to a new mutation that has been inherited from a parent. It occurs when there is a lack of function of part of chromosome 15 inherited from the maternal side. In most situations, it occurs due to a mutation or deletion of the UBE3A gene on the chromosome. In some cases, it is due to the inheritance of two copies of chromosome 15 from the father and none from the mother. Since the father’s abnormal genes are inactivated by genomic imprinting, there are no functional version of the abnormal gene that remains.
The diagnosis of Angelman syndrome can be made based on the symptoms of the patient and genetic testing. Although there is no cure, the treatment of Angelman syndrome is supportive with options of anti-seizure medications, bracing, and physical therapy. The life expectancy of those affected is usually normal. Angelman syndrome affects about 1 in 12,000 to 20,000 individuals with equal frequency between males and females.
Symptom #1: Microcephaly
Microcephaly is a term that describes the improper development of the brain, which results in a smaller than normal head. Microcephaly can be present at birth or develop in the first few years of life.
Individuals who have microcephaly often experience poor motor function, intellectual disability, seizures, dwarfism, abnormal facial features, and more. Some causes of microcephaly include autosomal dominant microcephaly, autosomal recessive microcephaly, x-linked microcephaly, Down syndrome, Patau syndrome, and more. Microcephaly is also a feature of Angelman syndrome.