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Angelman syndrome
What are the symptoms?
The main signs and symptoms of Angelman syndrome are learning disability, jerky movements, a tendency to seizures and a happy, sociable personality. Children with Angelman syndrome usually present with delay in reaching their developmental milestones and often do not learn to sit until around one year of age. The majority of children will learn to walk but tend to have a characteristic wide-based, stiff-legged gait. General health is usually good but seizures can be a problem, particularly in childhood. Individuals with Angelman syndrome almost always have characteristic abnormalities on EEG (Electroencephalogram) testing. Many, but not all children with Angelman syndrome have a typical facial appearance with a wide, smiling mouth, deep set eyes and prominent chin. These features become more prominent as children get older. Some Angleman individuals, especially those who have chromosome 15 deletion may be fairer in complexions than the rest of their family. Adults with Angelman syndrome are much less hyperactive than younger children and have a better concentration span. They remain dependent on others, but can acquire a variety of skills to help with daily living. Medical complications in older patients include the development of joint contractures, curvature of the spine and oesophageal reflux. Seizures may also return in adulthood.
Background
| Psychological and behavioural characteristics 
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