1시간
Life with Angelman Syndrome: A Parent’s Perspective Ulysses Neuro Podcast
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In this episode, hosts Ciara and Clare speak with Crystal McLoughlin to discuss life with her 3 year old son Tomás, who has Angelman Syndrome.
Angelman Syndrome is a rare genetic disorder affecting approximately one in every fifteen thousand births. Angelman Syndrome is caused by one of several different types of disruptions to a single gene, UBE3A, situated on chromosome 15, in the region 11-13 of the ‘q’ arm – referred to as 15q11-13. The majority of Angelman Syndrome cases result from a deletion of a segment of the maternal chromosome 15 that contains UBE3A. However, Angelman syndrome can also arise from a mutation in the UBE3A gene, or uniparental disomy, which is when two paternal copies of the gene are inherited from two paternal copies of chromosome 15. The core symptoms of Angelman syndrome include a unique happy demeanour, with frequent laughing and smiling, seizures, and severe developmental delays, for example having little to no speech. Other symptoms include balance and movement problems, abnormal sleep patterns, and feeding problems, particularly during infancy due to difficulties with coordinating sucking and swallowing.
For more information on Angelman Syndrome and the supports available, please visit the following websites:
http://www.angelman.ie/
https://angelmanireland.com/
https://www.angelmanuk.org/
https://www.angelman.org/
https://www.rareireland.ie/
https://www.angelmanclinicaltrials.com/
https://cureangelman.org/
https://cureangelman.org.uk/
In this episode, hosts Ciara and Clare speak with Crystal McLoughlin to discuss life with her 3 year old son Tomás, who has Angelman Syndrome.
Angelman Syndrome is a rare genetic disorder affecting approximately one in every fifteen thousand births. Angelman Syndrome is caused by one of several different types of disruptions to a single gene, UBE3A, situated on chromosome 15, in the region 11-13 of the ‘q’ arm – referred to as 15q11-13. The majority of Angelman Syndrome cases result from a deletion of a segment of the maternal chromosome 15 that contains UBE3A. However, Angelman syndrome can also arise from a mutation in the UBE3A gene, or uniparental disomy, which is when two paternal copies of the gene are inherited from two paternal copies of chromosome 15. The core symptoms of Angelman syndrome include a unique happy demeanour, with frequent laughing and smiling, seizures, and severe developmental delays, for example having little to no speech. Other symptoms include balance and movement problems, abnormal sleep patterns, and feeding problems, particularly during infancy due to difficulties with coordinating sucking and swallowing.
For more information on Angelman Syndrome and the supports available, please visit the following websites:
http://www.angelman.ie/
https://angelmanireland.com/
https://www.angelmanuk.org/
https://www.angelman.org/
https://www.rareireland.ie/
https://www.angelmanclinicaltrials.com/
https://cureangelman.org/
https://cureangelman.org.uk/
1시간