This is my Grandson Zenon, with his little friend Rhysie, who has Angelman Syndrome. Rhysie is the most courageous little boy I have ever had the privilege of meeting. He is an absolute inspiration to us all, and the courage and determination of his parents Sheri-lee Taylor and Heath Taylor is an awesome thing to see. So I dedicate this post to our little Superman Rhysie, for he is a very precious and loved Angel on earth. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (Many children are unable to ever walk). Most affected children also have recurrent seizures, which usually first present around 2 - 3 years old. Delayed development first becomes noticeable between the ages of 6 to 12 months, whilst other common signs and symptoms usually appear in early childhood. Angelman syndrome children typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. They typically have a short attention span. Other signs and symptoms may include: Sucking & swallowing disorders, and feeding problems in infancy. Hyperactive tendon reflexes cause jerky movements. Uplifted, flexed arms during walking. Prominent mandible. Pale skin and eyes, with light coloured hair and a flat back of the head. Increased sensitivity to heat. Wide mouth with widely spaced teeth. Frequent drooling, protruding tongue. Excessive chewing and or abnormal mouthing behaviors. Smooth palms. Curvature of the spine. Those with Angelman syndrome tend to become less excitable, and the sleeping problems tend to improve, as they grow older. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Life expectancy of people with this condition appears to be nearly normal. Angelman syndrome affects an estimated 1 in about 20,000 people. The characteristic features of Angelman syndrome result from the loss of function, mutation or deletion of a gene called UBE3A, found in chromosome 15. ( For this forum I am not going to elaborate on the genetic complexities.) Most cases of Angelman syndrome are not inherited, with genetic changes occurring randomly during conception the formation or in early embryonic development. Affected people typically have no history of the disorder in their family. There is currently no cure available, but seizures can be controlled by anticonvulsant medications. Many families use Melatonin to promote sleep patterns. Mild laxatives are also used frequently to encourage regular bowel movements, and early intervention with physiotherapy is important to encourage joint mobility and prevent joint stiffening. People with AS exhibit a profound desire for personal interaction with others, and are very happy and loving. Communication can be difficult at first, but as the child develops, they have the ability to make themselves understood, and develop strong non-verbal skills to compensate for their limited use of speech. Most afflicted people will not develop more than 5 – 10 words, if any at all. Harry Angelman, a pediatrician working in Warrington, England, first reported three children with this condition in 1965.
Posted on: Fri, 02 May 2014 16:22:07 +0000
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