Hi, My 23mth old daughter has Angelman Sydrome so I wanted to update some of  the more recent facts.

Angelman Syndrome (AS) is a neurological-genetic disorder characterised by global development delays & severe speech impairment.  A few individuals with AS develop functional speech, but most communicate through a mixture of gestures, eye contact, adaptive sign language & augmentative communication. 

Individuals with AS have developmental delays & intellectual impairment. 

AS also causes movement and balance disorders.  Whilst some AS children achieve independent walking by the age of three, there are others who will never achieve this goal.  The movement disorder can be mild (only affecting walking and some fine motor skills) or severe (preventing self help skills like feeding, walking & dressing).

Most individuals with AS have a seizure disorder, which can be difficult to treat.

Other challenges can also include feeding disorders in infancy, failure to thrive & sleeping difficulties.

Angelman Syndrome (AS) is caused by a severe reduction of expression of the gene UBE3A in the brain.  The UBE3A gene is located on chromosome 15. Both copies of the UBE3A gene are active in most of the body's tissues. In the brain, however, only the copy inherited from a person's mother (the maternal copy) is normally active.

In Mollys case, as with the majority of cases of AS, there is a deletion in her maternal copy of Chromosome 15. Other ways in which this can occur are;

• mutation of the UBE3A gene that prevents its expression (7% of cases);
• uniparental disomy where there are two copies of paternal chromosome 15 (7% of cases)
• clinical - in these individuals all testing is normal, but they still meet the diagnostic criteria (11%), it's likely that there may be a mutation in the pathway ?downstream? from UBE3A, or in the mechanisms that underlie maternal expression (Note there are several other syndromes that present like AS that can be tested for)

Although the prevalence of AS is not precisely known there are some estimates which suggest somewhere between 1 in 10-20,000 births.

The severity of Angelman Syndrome is a spectrum. Incidences can present with huge variations in the diagnostic criteria; from a few, to all of the listed features.

Current Research suggests a cure for Angelman Syndrome (AS) is a real possibility in the near future.  Since the cause of AS has already been identified, the basic knowledge to start the search for a viable treatment is already known.  

Current knowledge & recent cutting edge research present significant hope for finding a cure that was only imagined a few years ago.  

Therapies such as Physical, Occupational & Speech Language Pathology assist individuals in reaching their full potential.

Please feel free to contact me if you want more information or if you would like to help us on our journey towards a cure.

Meagan

I had never heard of this. Thank you.

Minti makes you wise.

Great advice sandra i have never heard of this before .

Thanks for sharing

Luv Emz xx

Never held of Angel man syndrome, before.....very interesting reading. very well put together, Sandra>

Love Janice xxxxx

I have also not heard this before, but ı foun it is very informative thanks for that

Seb

i have never heard of this, thanks for the great advice

hugs and kisses

Awesome article again. thanks for letting us know about AS,

I have never heard of this before Sandra, thanks for enlightening me! Great Article!

Teshia xxoo

Very interesting to read, as my son has all of the characteristics you have written with the exception of a flat back of head.  He has out grown, thank God, his seizures that started at 4 and he had 10, then medicated and had no more, and was off seizure medication in March.

I have never heard of Angel man Syndrome, my son was diagnosed with PDDnos, pervasive developmental disorder and ADHD.  One other diagnosis was sensory integration disorder, so for any Mom's who's kids scream and yell about seams of socks, or the "feel" of a zipper bothering them, for my son, I turned his socks inside out to remove the bump caused by the seam, and he wore elastic waist sweat pants, and elastic regular pants.  He now can tolerate zippers, but still prefers elastic.  Thanks for the info, I'll have to check this out.

Take care, Simba1