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.............................(click on the image above for more info) ................................                         ................(click on the image above for more info)

.............................................."An International Alliance of Support and Science"

PMSF International Family, Research Conference


July 20-23, 2016, in Orlando, Fla.


Download our free PMSF conference phone app through the App Store or Google Play.


JUST ANNOUNCED: Room Rates

 



PMS_DN team launches iPad raffle

 

By Jackie Malasky

PMS International Registry Team


The PMS_DN team is very excited to raffle off not one, but four iPad Airs with a durable case. IPads are fun and so important for our kids. The applications that have been developed to help children communicate and learn have made iPads valuable therapeutic tools in the PMS community.


There are a few ways families can enter the raffle:


-- You get one entry for being part of the Registry and updating your consent preferences. Just being part of the Registry isn't enough; you will need to make sure the new consent questions are answered. These new questions were posted in July 2014. If you haven't logged in since then, you will be alerted to make those updates.


-- You get one entry for each medical record you upload to the secure ShareFile interface, up to 10 records. If you provide 11 records or more, you get a bonus entry! But don't stop there -- we are encouraging you to submit as many records as possible.


-- You get a bonus entry if you submit at least one medical record by July 15.


Two winners will be selected at the end of July and two winners at the end of August. Entries will be closed for the July raffle at 11:59 p.m. EDT July 20 and the August raffle at 11:59 PM EDT Aug. 20. Don't wait until the last minute to get an electronic format of your child's medical records.


We are defining a record as being from either a unique doctor or a unique date of appointment. These include clinical notes, genetic reports, microarrays, etc. and can be in pdf, jpeg, document, or other format. These records will be shared via ShareFile, an online interface that has been created to allow you to securely upload and store medical records. It is easy, secure, and free!


For access and information, contact me at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it .




 

Traveling this summer with a child who has PMS?

Planning can relieve some of the stress

 

By Tony Samuel

Father to Nadia

 

Summer break is upon us and traveling with children who have Phelan-McDermid Syndrome or autism comes with its own special challenges.

 

Vacation time requires advance planning and thorough execution. For Phelan McDermid Syndrome families, weeks and even months of planning is critical to ensure a successful vacation.

 

Having a checklist will help to make the vacation experience great for all members of the family. It's best to reach out to the hotels, resorts and theme parks etc. to see if special accommodations can be made for our children. The guest relations department may be able to help.

 

Some theme parks and recreational areas may have special wristbands for those with disabilities. Special need families may also be able to skip the line and get VIP treatment.  It's important to have a note from your primary family doctor explaining your child's specific condition, along with any recommendations. Also, bring along any appropriate medical documentation should your child have a medical incident and you're helped by emergency personnel who might not be familiar with PMS.

 

Special toys and blankets must be packed to make our children feel at home. As with other autism related disorders, PMS kids thrive on structure and routine activities. Even though they may be away from home, it's important to have a semblance of normalcy. At home routines need to be incorporated into the vacation experience.

 

For our children with sensory issues, families must ensure ear plugs and headphones are packed with other essentials. We should also have a recent photo of our child in case she happens to wander off.

 

Is your child still in diapers, like so many PMS kids? If they have a special size or brand that you don't know will be available at stores at your destination, check with your hotel to see if you can ship some ahead of time so you don't need to pack so many and they'll be waiting for you at your arrival. Otherwise, do some research in the city to which you are going and contact some medical supply stores to see if they carry your brand or style.

 

If you're the parent of a child older than 18, don't forget to pack your guardianship documents and a state-issued ID to prove you have the authority to make decisions for your adult child.

 

Wings for Autism is a special program that was developed at Boston Logan Airport and it now has affiliates across the country, where families are able to get a free airport rehearsal ahead of their trip. Families can experience the entire airport boarding experience, including sitting on a runway with the plane's engine on. Although your child may not cooperate fully at first, it's still a great opportunity to experience the airport boarding process in a safe and healthy environment.

 

With our daughter Nadia, we travel with her iPad, DVD player, toys, books and accessory chargers to ensure she is having a good time. Although Nadia is not ready for a plane trip, we find opportunities to travel by car.

 

A successful vacation requires preparation. PMS kids can enjoy traveling and families can have fun!



MORE TIPS: Parenting Special Needs magazine offers these 8 things to consider

when planning summer break for your special needs family member.


PSN magazine also offers these 7 special accessible vacation spots.




 

 

Q&A: EU-AIMS leader talks about autism, finding the elusive SHANK3 mutation and whether PMS cases are common

Dr. Thomas Bourgeron is one of the world’s foremost experts in the genetics of neuropsychiatric conditions, especially autism. He works at the Pasteur Institute in Paris and is a leader in EU-AIMS, a European autism researchconsortium in which SHANK3 – the cause of the majority of Phelan-McDermid Syndrome cases -- is an area of focus. April is Autism Awareness Month and PMSF Research Support Committee Chair Geraldine Bliss talked with Dr. Bourgeron about PMS, SHANK3 and autism.


BLISS: You recently led a team of thirty-seven researchers from around the world in a project where you looked for deletions and mutations of the genes SHANK1, 2 and 3. You compiled data from 14 published datasets and found that deletions and truncating mutations of SHANK3 occurred in 0.69 percent of people with autism.  When you looked at individuals who have both autism and intellectual disability, the rate is even higher, 2.12 percent.  (A truncating mutation is genetic spelling error that prevents the proper expression of the normal protein product.)

How do those figures compare to previous estimates about the rate of SHANK3 deletions and mutations in people with autism and developmental disability?

BOURGERON: This collaborative study is the first meta-analysis of SHANK mutations in ASD (Leblond et al. PLOS genetics 2014). There was especially a need to gather results of sequencing studies. A second objective of our study was to provide a clinical characterization of patients carrying SHANK mutations.


BLISS: What is the reason for the increase in the estimates of SHANK3 deletions and mutations from past estimates?

BOURGERON: We can divide SHANK3 genetic alterations in three types: First, large deletions encompassing SHANK3 (also known as 22q13 or 22qter deletions) are screened by standard karyotypes (a method to observe the chromosomes of one individual). Second, small deletions of SHANK3 (also known as copy number variants (CNV)) are well screened using DNA arrays (a method to identify small loss or gain of DNA). Finally, point mutations affecting a single nucleotide (letter) of the SHANK3 gene are much less studied since you need to use either classical Sanger or next generation sequencing methods.

In our study, we have increased the number of patients and controls screened for SHANK mutations (especially,we screened a new cohort of patients for SHANK3 point mutations by Sanger sequencing). This is one of the two reasons why the prevalence of SHANK3 mutations has raised. The second reason is that we have extended the screening of patients with autism and intellectual disability. Given that mutations of SHANK3 are found more often in patients with intellectual disability, we could detect more mutations than reported in previous studies.


BLISS: How does that rate compare to other genetic causes of autism and developmental disability?

BOURGERON: The group of Evan Eichler has recently published a map of genes associated with developmental disorders (Coe et al. Nat Genet 2014). The map is based on the analysis of 29,085 patients with developmental disorders and 19,584 controls. In this map, SHANK3 is the third locus associated with developmental disorders with a prevalence of the deletion in 0.5 percent of the patients. SHANK3 is one of the main genes associated with developmental disorders.


BLISS: The PMS community includes many individuals with deletions of 22q13 that span SHANK3 and a growing number of individuals with mutations of SHANK3.  Mutations of SHANK3 continue to be difficult to identify.  What are the challenges in sequencing SHANK3?

BOURGERON: There are unfortunately many challenges in sequencing SHANK3. First, the gene contains more than 22 exons (different fragments of the gene that you have to study individually). Second, the gene is extremely rich in nucleotides G and C. This feature increases the difficulty to sequence the DNA (even the exome sequencing strategy was not able to sequence some exons). Third, there were several mistakes in the SHANK3 sequence of the referenced human genome.

The good news is that we have corrected the sequences (the corrections are listed in Leblond et al. PLOS genetics 2014) and the new whole genome sequence methodologies greatly improve the screening of SHANK3 exons.


BLISS: Recently I’ve been hearing about new, very large sequencing studies.  Do you think the rates of SHANK3 deletions and mutations are likely to increase in larger studies?

BOURGERON: Unfortunately, the whole exome sequencing (a technology that enable the sequence of the coding regions of the genome) has difficulties to identify SHANK3 mutations (the same is true for SHANK1, less for SHANK2). The whole genome sequencing technology is much better, but still expensive (>$1,000 per genome). We are however confident that the price will drop soon.


BLISS: When you totaled up the data from the fourteen published datasets, you found that the prevalence of SHANK3 deletions in people with autism was 0.18 percent and the prevalence of SHANK3 truncating mutations was 0.51 percent.  I was surprised to see that mutations of SHANK3 occurred more than twice as often as deletions of SHANK3.  Could that have been a result of other factors in the studies (such as how they developed heir cohorts, perhaps including patients with autism but excluding patients with ID)?

BOURGERON: The IQ of the patients can greatly bias the results. This is why we have stratified the population for presence (IQ70) of intellectual disability.


BLISS: I was also surprised to see that in a cohort of patients with autism that you screened, 8 of 429 (1.86 percent) had truncating mutations of SHANK3. This is more than three times the rate the meta-analysis would have predicted.  What explains the very high yield of SHANK3 mutations in your cohort?

BOURGERON: The mean IQ of our cohort is lower than other cohorts, such as the Simon Simplex Collection (SSC). This is the main reason why our prevalence of SHANK3 mutations is higher. When IQ is taken into account, there was no difference between cohorts.


BLISS: What do your new findings mean for clinicians when they see patients with autism or developmental disability?

BOURGERON: Given the relatively high prevalence of SHANK3 mutations, we have suggested that SHANK3 should be routinely tested for patients with ASD and intellectual disability. As explained above, the screen for SHANK3 mutation remains difficult to perform, but hopefully the screening will be easier in the very near future.


BLISS: In the United States, we don’t have any surveillance programs for PMS or other rare neurodevelopmental disorders.  Do you care to wager a guess about the actual number of people who have deletions and mutations of SHANK3?

BOURGERON: This is an important question and unfortunately I have no precise answer on the number of patients with SHANK mutation. Based the current estimates, I would say that the prevalence of SHANK3 mutations is 1/10,000-20,000 births. This is less than Fragile X (1/4,000 males), but similar to Rett syndrome (1/10,000 females).


BLISS: Thank you for talking to us about your work. We wish you continued success.


3 main objectives of Dr. Bourgeron’s group


(1) Dr. Anne Claude Tabet aims at identifying all the patients with deletions or duplications including SHANK3 in France. We have already identified 50 patients with 22q13 deletions. This work is done in collaboration with all the cytogeneticists from France and should be completed this year. We will also extend this study to other European countries as we are currently doing so with the EU-AIMS project.


(2) Dr. Roberto Toro aims to identify modifier genes that influence the severity of SHANK3 mutations. As you know, some patients have difficulty walking and some go to school and can talk. We suspect that the genetic background of each individual will greatly influence the severity of the clinical outcomes. Because the genetic background is made of a large number of variants (>1,000 or maybe > 10,000 variants), we need to have genetic data on a very large population of patients carrying SHANK3 mutations. The PMS association will be very helpful for this project.


(3) Dr. Richard Delorme aims to initiate new clinical trials in patients carrying SHANK3 mutations. To identify new pharmacological treatments, Dr. Isabelle Cloëz-Tayarani, in collaboration with Alexandra Benchoua at iStem and Tobias Boeckers at Ulm university, is studying neurons derived from induced pluripotent stem cells (iPSC) of patients carrying a SHANK3 mutation. Dr. Elodie Ey is studying the social communication of mice mutated for SHANK2 or SHANK3. Using these cellular and animal models, we are currently testing the effect of new candidate molecules. If these tests are positive, Dr. Richard Delorme will start the clinical trials.

 


 

 

 


 

WATCH NOW: Mom hopes to raise awareness about rare genetic disorder

on St. Patrick's Day. Story, video via WDEL 1150 AM


Families come through again, everyone is PHELAN LUCKY


By Jennifer Randolph

Mother to Jack


I can’t say that I wasn’t nervous about following last year’s PHELAN LUCKY campaign; it was surprisingly popular.  This year, I felt like the pressure was on!


I was nervous that people who bought T-shirts the year before would not buy again and subsequently limit sales.  I was so wrong!


Our PMSF family rose to an incredible challenge and did so in such an amazing way.  PHELAN LUCKY 2015 t-shirts went on sale Feb. 4-21.  In seventeen days, we sold 956 T-shirts (compared to last year’s 488) and raised $16,240, plus additional money that was sent directly to the foundation. Over the two years of sales, more than $27,000 was raised for the Foundation.


At least one shirt (more in many cases) made it to each of the 50 states and five other countries.  Wyoming gave us the most problems but that was easily fixed by sending a PHELAN LUCKY shirt to Gov. Matt Mead! I bet he will be PHELAN LUCKY when his mail comes in early March.


“Jennifer Randolph has set a stellar example of how a single person can grow from a passionate rare disease parent and donor into a world-class, semi-professional fundraiser for organizations such as the Phelan-McDermid Syndrome Foundation,” said Andrew Moss, president of Booster, LLC. “We’re honored and happy to see the exceptional results she achieved in leveraging the goodwill and generosity of the PMS community to spread the word and to build widespread support for the PMS Foundation and its great work!”


Through Booster T-shirt crowdfunding for causes, individuals and groups design a custom cause-branded shirt (or other merchandise items), put them up for sale on a dedicated campaign webpage, and then raise money when supporters buy shirts and make donations. Shirts also act as “walking billboards,” promoting the cause.


When I looked at the leaderboard and reading some of the things that family, friends and even strangers wrote was so incredibly touching. We all know that raising a child with PMS is not easy, most of the time it is the hardest thing in the world.


That being said, we have a shared goal, the betterment of our most precious gifts, our children.  This is why I believe PHELAN LUCKY was so successful this year. Thank you to everyone who bought a shirt, shared a link, emailed Ellen DeGeneres (we’ll get her next year), watched the video and cheered us on during the last couple of hours! When we work together, great things happen.


While PHELAN LUCKY 2015 has officially closed, I still need your participation. Please send to me at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it pictures of you in your PHELAN LUCKY T-shirts in creative places. Let me know where you are and why you are PHELAN LUCKY. Reach out to all of your supporters and ask them to do the same. I would love to create a better video for next year (although I thought this year’s wasn’t half bad)! We need to raise awareness and viral videos are known to do that.

 


 

Executive Director Barbara Cruz leaves Foundation


PMSF service to families will remain priority during transition


The Phelan-McDermid Syndrome Foundation Board of Directors announced today that Executive Director Barbara Cruz has resigned her position to pursue other opportunities. Cruz had been with the Foundation for the past three years, first as Associate Director and then as Executive Director.

In her time with the Foundation, Cruz led the office in working with families and other stakeholders. Among the projects she and her staff were involved in were planning Giving Challenge fund-raising campaigns, helping the Research Support Committee with grant projects, planning the 2014 International Conference and working to meet the needs of our families.

“We wish Barb the best of luck with her future endeavor,” said Susan Lomas, President of the Board of Directors. “She has been an important part of the Foundation and we thank Barb for all her work. We will look at all the options available in deciding our future governance structure with our families foremost in our minds as we continue to push the Foundation to greater heights and raise awareness of PMS.”

The Foundation has launched a review of the family and research support services it offers to our members and others. The Board will proceed in a timely and measured fashion in making decisions that affect the future of the PMS Foundation. The Board assures our families that we will be available to serve their needs during the transition period -- that won’t change. We’ll also keep all our stakeholders informed as we move forward.

Separately, Jennifer Harrison, our Membership and Communications liaison, has also decided to pursue other opportunities outside the Foundation. The Board wishes Jennifer luck and thanks her for her service to our families.

If you have questions or need help from the Phelan-McDermid Syndrome Foundation office, please call (941) 485-8000 or email Cheryl Herbold, our Business Manager, at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

As always, we appreciate the support from our dedicated families worldwide and believe strongly the Phelan-McDermid Syndrome Foundation will grow and thrive in the future.

The Board of Directors, Phelan-McDermid Syndrome Foundation




Foundation unveils new logo that represents

our worldwide communities of influence

PLEASE CLICK ON THE PMSF LOGO BELOW FOR A VIDEO MESSAGE
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....FOLLOW US

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NEW! Mark your calendar

 

Make a note of these significant upcoming events.

 

June 24 PMS Parent Megan O'Boyle speaks at Harvard Medical School in Boston.

 

June 25 White House discussion on President's Precision Medicine Initiative. PMS Parent Megan O'Boyle participating.

 

July 1 Become a member of the PMS Foundation. Go to www.pmsf.org and click on Membership menu link.

 

July 1-2 National Institutes of Health meeting in Washington, D.C.

 

July 2, 3 Run4Rare runner Noah Coughlan arrives in Orange County, representing Phelan-McDermid Syndrome and Lola Vartanian on one day of his cross-country run. run4rare.org

 

July 4 Independence Day in United States

 

July 6 PMSF Board of Directors conference call

 

July 15 Take a few minutes to look over the valuable family support and medical information under the Resources link in the menu list on the left side of this page.

 

July 15 Rare Disease Legislative Advocates' 2nd annual In-District Lobby Days webinar

rareadvocates.org/in-district-lobby-days/

 

July 25 Region 1 South Family Picnic, 12-4 p.m. Coyote Pointe Recreation Area / Magic Mountain Playground Picnic Table #18, San Mateo, Calif., 94401.

https://parks.smcgov.org/

coyote-point-recreation-area

 

Aug. 3 PMSF Board of Directors conference call

 

Aug. 3 - Sept. 3 Rare Disease Legislative Advocates' 2nd annual In-District Lobby Days

rareadvocates.org/in-district-lobby-days/

 

Aug. 5 Rare Disease Legislative Advocates' 2nd annual In-District Lobby Days webinar

rareadvocates.org/in-district-lobby-days/

 

Aug. 22 Region 9 Logan’s Heroes Motorcycle Ride and Auction fundraiser, Davison, Mich.

 

Aug. 30 Not sure if you want to become a registered member of the PMS Foundation? It's free, and there are lots of benefits? Follow the Membership link in the menu list on the left side of this page.

 

Sept. 1-2 Giving Challenge

 

Sept. 15 Did you update your profile in the PMS International Registry? Do it before summer arrives.

 

Sept. 27-29 140th Annual Meeting of The American Neurological Association, Chicago

 

Oct. 10 Thinking about year-end gifts for friends, teaches or neighbors? Shop at the PMSF Store. It's under the Shopping link in the menu list on the left side of this page.

 

Oct. 17-21 Neuroscience 2015, the Society for Neuroscience Annual Meeting, McCormick Place, Chicago

 

Oct. 19 The American Brain Coalition Fall Membership Meeting in Chicago


November Starting your holiday shopping? Shop iGive.com or Amazon Smiles and choose Phelan-McDermid Syndrome Foundation as your charity of choice.


Nov. 26 Thanksgiving Day in United States


Dec. 25 Christmas Day


2016


Jan. 1 New Year's Day


Feb. 26 World Rare Disease Day


April National Autsim Awareness Month


April 2 World Autims Awareness Day


May Mental Health Awareness Month

 

July 20-23, 2016 PMSF International Conference, Caribe Royale Hotel and Conference Center, Orlando, Florida

 

September World Alzheimer's Month

 

Sept. 21 World Alzheimer's Day

 

October Learning Disabilities Awareness Month


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