ANGELMAN IN NEW ZEALAND
We evolved in 2005 when a group of New Zealand parents and whanau meet at the Angels in Adelaide Conference in Australia. While in Australia we agreed that we could obtain enough family support to set up a similar support organisation here in New Zealand. After several informal meetings the Angelman New Zealand Society was launched. One of first goals was to get as many families as possible in one meeting place and have the opportunity to share and discuss issues, highlights and fears with what was involved in having an angel in your life.
Our next undertaking was getting everyone together in one place to facilitate this initial goal and we held the First national New Zealand Angelman Conference over the weekend of 9 - 11 March 2007 in Hamilton.
What is Angelman Syndrome?
Angelman Syndrome (AS) is a non progressive neuro-genetic disorder named after an English paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. A syndrome is number of features which occur together as a group and indicate a particular condition. AS is characterised by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanour.
Is it difficult to diagnose?
Yes, but with increasing public awareness of the condition and more accurate diagnostic tests, more children are being diagnosed. It is estimated that Angelman Syndrome occurs about one in 20,000 births.
To test for Angelman Syndrome, blood is take for genetic testing. The most common test for the diagnosis of AS is a FISH (fluorescence in situ hybridization) test. This test will identify the deletion on the chromosome 15.
Is there a cure for Angelman Syndrome?
No, but some symptoms can be treated. The condition is permanent but is not degenerative. Research is continuing worldwide on the complex genetics of AS to better understand why it occurs. Males and females are affected equally. AS children can look forward to a normal lifespan, when children with Angelman Syndrome are observed and studied, many educational and behavioural interventions have been shown to be effective in the areas of communication, behaviour modification, sleep disturbance, general conduct and social skills. Physical and occupational therapies, speech and language intervention assist AS children.
Com a colaboração: Angelman New Zealand