Understanding Angelman Syndrome
April 24, 2023 | Raquel Paz Bergia | Neurology
Angelman Syndrome is a genetic disorder that causes developmental disabilities and nerve-related symptoms. AS is a rare disease that has no cure, however, it can be treated. People with AS are characterized by their unique smiles and laughs and tend to be happy and excitable people. AS is caused by issues in a gene located in the 15th chromosome.
This article provides insight into the etiology (causes), the physiological effects, the neuropathology, and the management of Angelman Syndrome.
What is Angelman Syndrome?
Angelman Syndrome begins to show symptoms between the ages of 6 and 12 months and tends to increase around the ages of 2 and 3 years. These symptoms begin as intellectual disabilities, such as minimal speech and difficulty walking, but could result in seizures, jerky movements, small heads, and other symptoms. Moreover, it is a disorder that has a very positive diagnosis. At the moment, there is research being done that is very close to a cure for AS based on previous knowledge about the causes.
What are the causes of AS?
Angelman Syndrome is a genetic disorder that affects around 500,000 people worldwide. This is a disorder that is caused by problems in the genes of the 15th chromosome. Usually, it is because of a missing or defective gene. When a fetus receives the mother’s genes, sometimes there is an inactive UBE3A gene. That is what occurs in Angelman Syndrome; there is a missing gene in the 15th chromosome. However, based on a recent publication by the Angelman Syndrome Foundation, researchers and scientists are near a breakthrough discovery for the cure for AS.
A Possible Scientific Breakthrough for AS Patients
Researchers investigating Angelman Syndrome have been studying the genetic composition of patients. This has led to some really impressive research. An interesting video by Dr. Arthur Beaudet can be viewed at this link, where he explains the scientific and genetic aspects of this disorder and how he believes patients can be helped.
What is the prognosis of Angelman Syndrome?
Over time, patients with AS can have improvements in certain symptoms; sleep issues and seizures tend to decrease over time. Patients with AS can maintain a long, healthy life, and have a normal life expectancy. AS won’t directly cause death, however, the symptoms of AS, such as mobility and balance issues, may cause life-threatening injuries. Family members and caregivers of an AS patient should have a positive mindset as this is a disorder that is thoroughly investigated.
What assistive technologies are used to help AS patients?
Certain technologies and medications are used to help AS patients reduce symptoms. Seizures are reduced through medications and dietary therapy, while sleep issues may be resolved with sleep therapy. Another priority is to test for visual and auditory damage, these can be helped through innovative implants, such as a cochlear implant. Nootropics can be used to help the jerky movements and mobility issues that patients present. Talking to a doctor and following up accordingly may result in fewer symptoms and more independence for AS patients.
Where can you read and learn more about Angelman Syndrome?
There are multiple organizations that provide research and volunteering for people that want to help patients with AS. These include, but are not limited to, the following:
You may also reach out to neurologists and geneticists to study clinical cases that can help you understand the symptoms and prognosis better.
Conclusion
Angelman Syndrome is a genetic disorder caused by the lack of a gene in the 15th chromosome. This causes developmental delays, minimal speech, mobility difficulty, as well as other things. Moreover, researchers are near finding a cure for AS. Patients and caregivers should keep their head high and maintain a smile because this is a disorder that is very hopeful. Though it lasts for life, it is not life threatening.