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Angelman syndrome

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Angelman Syndrome is a fairly rare genetic disease. It primarily affects the nervous system and can also cause developmental issues as well. There are a few known causes of the disease all based around the chromosomes of a person. One known cause is the loss of function in UBE3A (also known as chromosome 15). Normally a person inherits one copy of the gene from each parent a maternal and paternal copy although only the maternal copy is active. This gene is found in many areas of the brain and in most cases of the disease the maternal copy of UBE3A is inactive as a result of being shut off by genetic mechanisms or is deleted all together and is not in those areas of the brain at all. In a small percentage of cases rather than a person in inheriting a maternal and paternal copy of the disease a person may instead inherit two paternal copies a phenomenon known as uniparental disomy. In 10% to 15% of cases of the disease the cause is unknown having not resulted from any of the current known causes. It is believed in these unknown cases that other genetic or chromosomal changes could be the underlying cause. [1] Diagnosing this disease can be difficult in some regards due to the similarities in symptoms to cerebral palsy and autism spectrum disorders.



At birth symptoms of Angelman Syndrome may not be apparent, however by the 6-12 month mark some signs may be prevalent such as lack of babbling noises and the inability to sit in the upright position unsupported, these are both signs of delayed development. As the child gets older they may not be able to talk at all or may have a very limited vocabulary. As the child gets older their movements may be affected causing problems when walking, balance and co-ordination, trembling or jerky arm movements, and stiffer than normal legs. There are many distinctive behaviors observed in people with this disease which include: frequent laughter or smiling often with little stimulus, easily excitable often accompanied with floppy hand movements, being restless(hyperactive), having a short attention span, problems with sleeping and needing less sleep than average, and a particular fascination with water. At around the age of two another symptom [2]

Treatment and Cure


As of the current time there is no genetic therapy or curative medication available to treat the disease. For now the only treatments available are symptomatic and supportive. Some of the treatments that can help people suffering from this disease include behavioral therapy and a strict sleep schedule which aid in helping the patient if they suffer from sleep disorders. Eating disorders are also common so in some cases a surgical procedure might be necessary to tighten the esophagus to stop Gastroesophageal reflux. Ankle braces or leg braces might also be required for people with difficulties walking or standing. Back braces might also be needed if the patient suffers from Scoliosis. To discourage unwanted behavior, behavioral modification therapy might be a suitable choice to help with that. In other cases speech therapy might be needed to help with speech disabilities. [3]


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Genetic Diseases


  1. Author NA [1] U.S. National Library of Medicine Published May 2015
  2. Author NA [2] NHS Last Reviewed June 9, 2016
  3. Williams, Charles. Angelman syndrome National Organization for Rare Disorders. Web. Accessed March 13, 2017.