If you're looking for non-genetic references, try Calculator & Diaz-Caneja Sela, in press, Journal of Applied Research in Intellectual Disabilities.  It's an intervention study. 

thank you, will try that.

I like this paper : "Review Epilepsy in patients with Angelman syndrome"

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2865483&tool=pmcentrez&rendertype=abstract

Thanks Michel Haziot for the feedback.  The paper is really helpful....

See following http://www.urmc.rochester.edu/Encyclopedia/Content.aspx?ContentTypeID=90&ContentID=P02159 for Angelman and Prader-Willi as each due to abnormality of chromosome 15.

OMIM:

# 176270. PRADER-WILLI SYNDROME; PWS ICD+, Links

PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED

Cytogenetic locations: 15q11.2 , 15q11.2

Matching terms: chromosomal, 15, chromosome

2 : # 105830. ANGELMAN SYNDROME; AS ICD+, Links

ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED

Cytogenetic locations: 15q11.2 , Xp22.13 , Xq28

Matching terms: chromosomal, 15, chromosome

I asked a friend who has a daughter with Angelman.  Here is her response.

There is definitely literature out there on Angelman Syndrome -- Not sure exactly what specific information is being sought? Genetic mechanisms, drug trials, lab info, literacy, are a few topics that come to mind.

For example, my daughter has a rarer form of Angelman Syndrome. 70 - 80% have a gene deletion (ube3a gene on maternal chromosome in 15th pair). However, my daughter has a gene mutation on ube3a gene. While having all of the "clinical" symptoms of Angelman Syndrome, she is thought to have a higher cognitive ability than those with a gene deletion. There also are a few even rarer forms (Uniparental Disomy, Imprinting center defect & mosaic) - I don't have a ton of personal knowledge about the rest (my personal research stopped at the mutation!), but there is some literature on this.

While some children with a larger gene deletion may fall on the autism spectrum, it definitely is not a form of autism! My daughter is very social & engaged.

If you would like contact information for my friend, please contact me at [email protected]

I believe I omitted the information on Angelmann/Prader-Willi that shows the same genetic mutation but one depends on inheritance from the mother and the other from the father.

thank you all for your input. I have a friend as well with a child with the syndrome and to be able to help in getting publicity for the syndrome and eventually the help needed from the government I need to put together anything that will help, from the reasons that generate the uniqness of these children to the quality of life parents and carers have loving and caring these beautiful children.

Prognosis and Treatment pearls:

https://www.epilepsy.org.uk/info/syndromes/angelman-syndrome

Here is some recent press.

http://medcitynews.com/2015/03/keep-eye-ovid-therapeutics/?utm_source=MedCity+News+Subscribers&utm_campaign=0b1b92fc2b-RSS_EMAIL_CAMPAIGN&utm_medium=email&utm_term=0_c05cce483a-0b1b92fc2b-67055505  

Stealth neuroscience startup Ovid Therapeutics raises $5M for… Angelman Syndrome? Stay tuned!

March 25, 2015 3:25 pm by Meghana Keshavan | 0 Comments

Stealth New York-based startup Ovid Therapeutics just raised $5 million, according to a regulatory filing.

CEO Matthew During, an accomplished neuroscientist, declined to comment on the fundraise, though he told me last week that some interesting announcements are forthcoming. In the meantime, here are some bits and pieces from which we can draw conjecture:

The company’s chairman is former Teva Pharmaceuticals CEO Jeremy Levin. A recent piece on Levin in Biopharma Reporter referred to Ovid as “an extremely private company based in New York, backed by significant private equity funds and focused on neurology.”

The article continues:

Levin is set to disclose more about the company in the next few weeks but for now told us: “I regard it as one of the most exciting companies that I have seen in many years, and it is a privilege to be its Chairman.”

Some Googling links the company with FAST – the Foundation for for Angelman Syndrome Therapeutics, a philanthropy focused on this neurodegenerative disorder. Of course, that association dates back to 2012 – and we know how frequently biotechs pivot indications. Still, this is what we have for now.

So what’s Angelman Syndrome? It’s a genetic, neurodevelopmental condition that makes walking, balance and talking difficult. Those who have it are most known for their angelic faces – they smile tons and have frequent outbursts of laughing.

Whether or not this neuroscience startup is developing a therapy for this particular indication, it’s a fascinating space: We certainly have need to find ways to effectively treat genetic neurodegenerative disease.

[Image courtesy of Flickr user Fun Flying]

This study might be useful.

Doi: 10.1016/j.yebeh.2016.04.030