Angelman syndrome is a rare neurogenetic disease caused by the loss of function of the maternal copy of the UBE3A gene. The disease is characterized by developmental delays, intellectual and physical disabilities, and speech impairment.
There are several genetic mechanisms that may inactivate or delete the maternal copy of the UBE3A gene. In most cases, a segment of the maternal chromosome 15 (where the UBE3A gene resides) is missing. In others, there is a mutation in the maternal copy of the gene.
When there is evidence through family history or initial clinical evaluation of the presence of Angelman syndrome, the primary healthcare provider may refer patients and their family members for genetic counseling. This is meant to help them understand more about the genetic nature of the disease, its treatment, and its risk of recurrence in other members of the family.
What is genetic counseling?
Patients usually are referred to genetic counseling when there is a strong family history of a genetic disease, an ultrasound abnormality found during pregnancy, or abnormal results in blood testing during pregnancy.
A genetic counselors are healthcare professionals with specialized training in medical genetics and counseling. They can offer detailed explanations about specific medical issues, give information about the different tests that are available and needed to confirm the genetic mechanisms suspected to be underlying the disease symptoms, and determine the risk of recurrence of the disease in the family, which may be important for family planning.
The genetic counselor first will develop a pedigree or a family tree after obtaining as much information as possible about the immediate family members. The information mostly will include known medical history of the immediate family members.
The counselors then will provide information about the available genetic tests that can confirm a diagnosis of the disease. They also will share information intended to help family members, especially parents, make decisions about future family planning options based on the results of the genetic tests.
Genetic counselors do not provide information only, but also offer emotional support to individuals and families during what can be a challenging and confusing time.
Genetic counseling and Angelman syndrome
There are multiple genetic mechanisms by which the UBE3A gene may lose its function and cause Angelman syndrome. Depending on the mechanism, the risk of recurrence may be negligible or as high as 50%. The symptoms and treatments also can vary based on the type of genetic mechanism causing the disease.
There are several genetic tests that can help determine the exact mechanism that is causing Angelman syndrome in any particular individual. The counselor can analyze the data from the genetic tests and the family history, and provide the family with information regarding how the disease may progress and the available treatment strategies that can be used to lessen the disease symptoms.
Last updated: Oct. 5, 2019
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