Research: Shank3 Mutations in Autism

An article was published on sfari.org about the importance of doing genetic testing within the autism community.  Shank3 mutations are being linked to autism spectrum disorders!

http://sfari.org/news-and-opinion/in-brief/genetics-more-shank3-mutations-in-mild-autism-cases?utm_source=Master+List+-+Weekly+Newsletter&utm_campaign=af3178cf56-SFARI_Newsletter_120925&utm_medium=email

P-MS In The News - BIOCENTURY TV

A big thank you to Megan O'Boyle for her tireless efforts to continuously advocate for Phelan-McDermid Syndrome families!

Megan spoke with BioCentury (a Science TV show) about the efforts the Phelan-McDermid Syndrome foundation is making to help research move forward.  The PMS Registry is a big reason why P-MS research is moving forward so quickly.

BioCentury TV 10-28-12
The show is broken down into 4 sections.  You'll need to watch all 4 sections to hear the whole episode.
http://www.biocenturytv.com/player/1928935990001

GREAT JOB, MEGAN!

P-MS Foundation Telethon RESULTS

A HUGE SUCCESS!
The Phelan McDermid Syndrome Foundation raised $19,065.13 during their Board Telethon and Regional Challenge.  A big THANK YOU to all who donated on behalf of those affected by P-MS!

http://myemail.constantcontact.com/Telethon-Results-and-Thank-You-.html?soid=1104174981954&aid=XXM3DyJLxGI

Phelan-McDermid Syndrome - Published Medical Report

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366702/

The above link is the MOST IMPORTANT (in my opinion) published medical document for Phelan-McDermid Syndrome (P-MS).

PARENTS - PRINT IT AND SAVE THE LINK!

This is a good tool to give to doctors, teachers, and therapists working with your child.  It covers all aspects of P-MS from information about the deletion, symptoms, clinical features, medical research, etc.

Phelan McDermid Syndrome - Making News

Mice Mimic Pain Tolerance Seen in Phelan-McDermid Syndrome.

http://sfari.org/news-and-opinion/conference-news/2012/society-for-neuroscience-2012/mice-mimic-pain-tolerance-seen-in-phelan-mcdermid-syndrome?utm_source=Master+List+-+Weekly+Newsletter&utm_campaign=bb9afceded-SFARI_Newsletter_120925&utm_medium=email

This article discusses the importance of using mice to study a specific symptoms of Phelan-McDermid Syndrome - High Pain Tolerance.

Who is Phelan-McDermid Syndrome: BELLA

MEET BELLA


Bella was born on a very cold day in February.  At the time I had two young children and had spent approximately 8 months dreaming of the three blissful days of breakfast/lunch/dinner in bed with my sweet newborn.  Within the first 5 hours of her arrival that dream was shattered.  Bella stopped breathing, turned blue, and was rushed to the Special Care Unit.  So began our journey into the world of having "special needs". 

Bella continued not to be able to coordinate breathing/sleeping or breathing/eating for the first six months of her life.  During this time of alarms sounding to tell us that our baby was not breathing, we also learned about her genetic deletion, 22Q13.2.  Oh, and just to top off our stress level,  were told that she was blind.  This time in my life was, blessfully, a blur.  I remember feeling certain that at some point the alarm would stop sounding and someone with a stethascope wrapped around their neck would tell me, "Oops, our mistake, your beautiful baby is actually fine...so sorry for the worry.".  I guess that was some sort of coping skill but I truely saw that entire scene play out in my mind a million times.  No one ever said those words but indeed the alarm did stop sounding and as time went on, it became clear that  Bella was not blind.  22Q13 deletion is a reality in our life but it is a reality that has become less and less difficult to cope with.

Bella is now 2 and 1/2 and every bit as beautiful as her name implies.  She is an easy-going little love.  Her smiles have become more and more frequent and her giggles are stronger every day.  She absolutely adores her big sisters and will follow them all around the room with her eyes.  She continues to struggle to sit up but when properly motivated (entertained like the princess she is), she can sit for close to 45 minutes.  She has begun standing with support and taking steps with her PT.  She works so hard and she rarely complains. Every little accomplishment floods our house with joy.  Recently she began to hold her sippy cup by herself and her sisters celebrated like she had won the Boston Marathon!



This story was told by Bella's mother, Crystal

Who is Phelan-McDermid Syndrome: ADYLIN

MEET ADYLIN

Adylin at the age of 4.

After nine long, uneventful months, Adylin Eve was born on May 3, 2001 at 4:27pm., weighing seven pounds and nine ounces. Nineteen and a half inches long. She was the most beautiful thing I had ever seen!

She held her head up in the hospital and never stopped kicking! She rolled over, sat up and met every other milestone just when she should. Except walking. And while she babbled, she never seemed to get actual words. By fourteen months I was worried something might be wrong. I had her assessed by a group of professionals (OT, PT, speech therapist, child psychologist) through our public school system, who, along with our pediatrician, said she would catch up – it was a minor delay. They saw no reason for concern at this time. I took her home and continued to watch her grow, but still not walk or form words. At eighteen months, I was really getting concerned. We went back to the pediatrician, visited a developmental specialist at Children’s Hospital in Omaha, NE and again, visited with the professionals through the school system. At this point, they decided Adylin did have a greater delay in her motor and speech abilities. A teacher from the school system began visiting her at daycare twice a week and one evening a month at home. While it seemed she was learning some things, her motor skills continued to lack, as did her speech.

Around the age of four, after attending ECSE (Early Childhood Special Education) at the school for about a year, teachers began asking if she had ever been evaluated for autism. After revisiting the developmental specialist in Omaha and her pediatrician, they were fairly certain Adylin was not autistic. An MRI revealed nothing, so it was on to genetic testing. A broad view of Adylin’s chromosomes looked normal, but upon a closer look (FISH), it was discovered that a small portion of her 22^nd chromosome had detached and reattached itself to her 16^th. We finally had an answer. Adylin had Phelan-McDermid Syndrome. It was a blessing and a curse to have the diagnosis. Finally, we had a reason for her delays, but we also had a label that felt like it would limit her life. Unfortunately, at the time, there was not much information on the disorder and the characteristics were hit and miss with Adylin. So, instead of focusing on Adylin’s label, we chose to focus on her, as an individual and to work with her to find her potential.

Adylin is eleven now. In some ways she is a typical pre-teen and in other ways she is far behind other children her age. She does talk now. Some words are very clear, while others are “Adylin-speak” – approximations you come to know after spending some time with her. And, while I still break down every now and again, fearing she won’t have the life I always wanted for her, I’m learning from her the life that she wants. She is so happy and sweet and content. What more could I ask for my child?

This story was told by Adylin's mother, Andria

Shank3 - Making News

Below is an article recenlty publishedon safari.org.  This article explains the importance of mice in Autism research.  Shank3 (gene responsible for P-MS) is mentioned.

http://sfari.org/news-and-opinion/directors-columns/2012/pick-of-the-litter?utm_source=Master+List+-+Weekly+Newsletter&utm_campaign=a27c10c784-SFARI_Newsletter_120925&utm_medium=email