The Hope Project (THP): Understanding Angelman Syndrome

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:


Angelman Organisation

Cureangelman


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.


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Unwired India is a neurotech-startup that aims at integrating state-of-the-art research and developments in STEM, for catalyzing the transition of Neuroscience to Neurotechnology. We develop avant-garde non-invasive neurostimulation products used to solve some of the world’s most critical global issues and challenges. Our mission is to take cutting-edge brain research directly into the lives and homes of people, thereby fostering a unique culture of sustainable neuroscience and scientific literacy in India.

  • Founded in 2020, we are the pioneers of Nootropics and non-invasive Neurotechnology devices in the country, and offer so much more than high-quality, delicious Brain Nutrition products for daily cognitive support; a full-service health and fitness startup that has become an important part of the local community, here in New Delhi, India.

  • We develop non-GMO, all-natural nootropic (smart-drug) formulations, Himalayan herb blends, and specialized amino-nutraceutical interventions and supplements for enhanced brain function, cognition, neuroinflammation, and neurodegeneration.

 

The Hope Project (THP) is a neuro-disorder awareness initiative within the organizational framework of Unwired India. The initiative aims at creating and scaling awareness against the stigma, fear, and apprehensions associated with Neurological disorders.


Aims: To promote and develop awareness across global masses and to emphasize the importance of early detection, in addition to fostering a healthy lifestyle- which is important in the management and treatment of these ailments.


WORK WITH US.

Register at http://www.unwiredindia.com/team/

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A friendly reminder: We've done our research, but you should too! Check our sources against your own and always exercise sound judgment.


https://www.angelman.org/what-is-as/

https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621

https://www.ninds.nih.gov/Disorders/All-Disorders/Angelman-Syndrome-Information-Page

https://www.epilepsy.org.uk/info/syndromes/angelman-syndrome

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About the Author

Raquel Paz Bergia


Leader of The Hope Project & International Growth Ambassador (Madrid, Spain)


Raquel Paz Bergia is a writer from Spain who developed an interest in Neurology at an early age. Over the last few years, she has surrounded her studies around Cognitive Biomedical Engineering. She has a passion for learning and researching degenerative diseases and their impact on the community.






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