Angelman’s Syndrome By Brandon Le

Angelman’s syndrome is a genetic mutation in which a small part of chromosome 15 is deleted. (Red area of figure one is the deleted segment of chromosome 15) Angelman’s syndrome

occurs when a segment of the maternal copy of chromosome 15 is deleted or inactivated; this causes the paternal copy to be silenced. The prevalence of AS is around one in ten-thousand people, seen mostly in children 6 – 13 and mostly prevalent in the area from Denmark to Sweden. Another name for Angleman’s Syndrome is Happy Puppet Syndrome, but this term is no longer accepted as it is a bit condescending.

Symptoms include: Epilepsies, a happy demeanour, frequent laughter, facial distortions, problems with sleeping, unusual movements including limb

jerking and hand flapping and speech impairment.

Although there is currently no cure, due to the effects of epilepsies, affected children and adults may take anticonvulsant medicine. One of the more severe side effects is the ability to communicate, as use of sign language, talking and even walking is difficult among those affected. One of the better parts is that AS improves with age, sleeping patterns improve and frequencies of seizures improve.

Figure 1

Figure 2: Denmark and Sweden area

Figure 3: A young girl with Angelman's Syndrome

Figure 4: A drawing of a AS child by Giovanni Francesco Caroto

Figure 1 : Wikipedia.comFigure 2 : hdtravelpictures.com

Figure 3 : http://2011gtms8f.wikispaces.com/Angelman+Syndrome+Gary+P

Angelman Foundation : angelman.org

Figure 4 : Wikipedia.com