hgh dhea metformin


June 2012



Recent Posts



The following is a collection of articles and resources that I hope will grow with time …

What is Angelman Syndrome?

Angelman Syndrome is a rare genetic condition first identified in 1965 by a British doctor, Harry Angelman, from whom it also gained its name.

Dr Angelman had noticed similarities between a small number of previously undiagnosed children that seemed to indicate they had a common problem. After seeing a painting in the Castelvecchio museum in Verona, Italy entitled A Boy with a Puppet he was inspired to write a medical paper titled Puppet Children.

The syndrome – originally called ‘Happy Puppet Syndrome’ because of the characteristic happy demeanour and stiff jerky movements of the children – was renamed Angelman Syndrome in 1982. Although at first little was known and indeed few other cases identified, in recent years much more has been learned. During the 1980′s advances in genetic medicine made it possible to diagnose increasing numbers of cases and also to start identifying the cause.

In simple terms, it is a chromosome disorder that causes severe learning difficulties. It is now known that irregularities in Chromosome 15 are responsible for AS. However it is also known that there are several different irregularities that can occur in Chromosome 15, all of which result in a diagnosis of AS.

Angelman Syndrome is not a disease, it is a neurological disorder that causes severe learning difficulties, and although those affected have a normal life expectancy, they will require looking after throughout their lives. It’s possible to go from knowing nothing about AS, to being overwhelmed by the information now available to families of those newly diagnosed with AS. It can be very difficult to understand all there is to know about AS very quickly, you’ll probably have lots of questions on a topic you may never have heard of before.



New Clinic For Rare Disorder

Friday, February 03 2012 by Catherine Brand


UNC Chapel Hill this afternoon will officially mark the opening of its new Comprehensive Angelman Syndrome Clinic at the Carolina Institute for Developmental Disabilities. Anne Wheeler is a psychologist at CIDD; she’s also co-coordinator for the new clinic. She says Angelman Syndrome is a rare congenital disorder that occurs in about 1 in 15-thousand births.


Anne Wheeler: And it’s associated with a whole host of lifelong challenges and disorders, autistic-like behaviors, significant intellectual and behavioral disabilities… language disorders, lack of speech for a lot of them, frequent seizures, motor imbalance probs, so it’s pretty significant.


Wheeler says treatment of the disorder is integrative and complex. The clinic will bring together specialists from fields including neurology, speech therapy, genetics, and physical therapy. Wheeler says the clinic is the first of its kind in the country to provide all of these resources under one roof.


Source(Includes Audio):




Related Articles

“Farrell’s Son Diagnosed with Angelman Syndrome”:


“Brain Cell Activity Imbalance May Account For Seizure Susceptibility In Angelman Syndrome”:


“Disrupted Gene Causes Angelman Syndrome”:




“Angelman Syndrome Foundation”:


“Angelman Syndrome Support Education and Research Trust”:


“BBC Health: Angelman Syndrome”:


“Angelman Syndrome Association, Australia”:


“Angelman Syndrome Books”:


Leave a Reply