https://padlet.com/0814992/3p8mr8ofxur6 Quite literally a chip off the block en-us 2017-02-13 18:57:01 UTC 2025-12-01 04:02:32 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Growing.png 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153536690 Angelman syndrome,(also known as 'happy puppet syndrome')despite the name and any hope you may have, does not make you an angel. Discovered by Harry Angelman,  the disease is characterized by a happy demeanour, developmental difficulty, and inability to move. Although relatively rare( 1 in 15,000 births have it), individuals with AS require lifetime care.]]> 2017-02-13 19:06:13 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153536690 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153538975 The genetic disease is,in the majority(68%), caused by an abnormality in chromosome pair 15. More specifically, a piece of it has been deleted from the maternal chromosome. It isn't usually hereditary, but a mistake in early embryonic development. Other causes include the lack of a maternal chromosome 15 in the egg(uniparental disomy) and imprinting(the copying of the father chromosome 15 to replace the mother's.)]]> 2017-02-13 19:12:20 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153538975 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153540311 .]]> 2017-02-13 19:16:05 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153540311 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153543722 2017-02-13 19:24:53 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153543722 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153543981 The symptoms experienced by 100% of those with AS include slow development(mentally), inability to balance/move, and consistent happiness. Other symptoms experienced by around 80% of those who have it consist of seizures and microcephaly(smaller-than-average head). AS has been linked to autism as well- several features of autism are displayed in AS. Although not deadly, individuals with AS require care their entire lives.]]> 2017-02-13 19:25:34 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153543981 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/153834338 Angelman syndrome, 80-85% of the time,can be detected with a blood test that determines if chromosome 15 is fully functioning. However, the earliest detected case of AS to date is in a child of 16 months, so prenatal detection as of today is not possible. The disease is a spontaneous mutation, so carriers(as far as we know) are nonexistent.]]> 2017-02-14 18:59:19 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/153834338 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/154679871 As of today, AS does not have any defined cure specific to it. The most that can be done is within various occupational and physical therapies which help along the processes of movement and comprehension in someone with AS. The constant happy  demeanour is a trait that will affect the patient through and beyond old age- at least on the outside.]]> 2017-02-17 19:18:39 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/154679871 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/154943758 AS is a relatively unheard-of disease, with the biggest celebrity personality affected by it being Colin Farrell's son. But if we find a way to treat it, it could mean better treatments for millions of people with autism and other developmental afflictions. Although I'm not asking you to buy  anything(https://shop.spreadshirt.com/angelman/?version=1487602295074), be aware that these 'angels' are among us, and read an article once in a while. Everything helps.]]> 2017-02-20 14:41:06 UTC https://padlet.com/0814992/3p8mr8ofxur6/wish/154943758 0814992 https://padlet.com/0814992/3p8mr8ofxur6/wish/154946464

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