Home > Science > Turning Medical Science into Medical Treatments: The Quest for Translation in Phelan-McDermid Syndrome

Turning Medical Science into Medical Treatments: The Quest for Translation in Phelan-McDermid Syndrome

by Guest Blogger, Andrew Mitz, Ph.D.

The First International Phelan-McDermid Syndrome Foundation (PMSF) Symposium held earlier this month showed how a small parent-run organization can think and act big! With only 450 registered families worldwide and a mom at the helm, the PMSF put together a first class scientific meeting at the New York Academy of Medicine, by partnering with researchers from the Seaver Autism Center, Mt. Sinai School of Medicine. The goal of the meeting was to chart a course towards medical treatments for this rare, genetic cause of autism.  The theme of the meeting was scientific sharing, teamwork, and quality research.   Over two days (March 3rd and 4th), the participants heard from families and experts about Phelan-McDermid Syndrome, its history, its connection to autism spectrum disorders, and the very latest in scientific approaches. They also learned how people studying other disorders have found fast paths to drug development.

The early presentation by Dr. Catalina Betancur (INSERM, France) provided two key foundational scientific links to help open the meeting.  First, she showed that Phelan-McDermid Syndrome, also called 22q13 Deletion Syndrome, is one of many known genetic causes or risk factors of autism spectrum disorders.  Second, virtually all cases of chromosome 22 abnormalities that cause Phelan-McDermid Syndrome share damage to or loss of the SHANK3 gene as a common feature.  SHANK3 gene mutations are also found in about 1% of the general autism population. That is why understanding the biology of SHANK3, and how to treat the loss of SHANK3 in Phelan-McDermid Syndrome patients, resonated through every talk of the meeting.

The SHANK3 gene encodes a protein called Shank3 that is critical for proper synapse function. Synapses are the junctions or contact points between neurons of the brain, where information is exchanged. Thanks to the elegant and detailed descriptions provided by Dr. Tobias Boeckers (Ulm University, Germany), participants learned how Shank3 proteins stick to each other. The proteins form an interlocking network that acts as a backbone for the synapse both mechanically and chemically.  For this reason, Shank3 (also known as ProSAP2) is called a scaffolding protein.  Dr. Boeckers showed how the loss of Shank3 in Phelan-McDermid Syndrome makes the entire synaptic junction unstable. Shank3 is one of the first proteins required for synapse formation, which is constantly taking place in the brain. Dr. Carlo Sala (University of Milan, Italy), another pioneer in SHANK3 research, explained that proper synapse formation and stability are essential processes for learning and memory.

In a particularly memorable session on the first day, Dr. Boeckers and other investigators including Dr. Joseph Buxbaum (Mount Sinai School of Medicine), Dr. Craig Powell (University of Texas), and Dr. Yong-Hui Jiang (Duke University) shared details about their respective efforts to develop a Phelan-McDermid Syndrome mouse model with a mutated or deleted SHANK3 gene. The open and frank exchange resulted in a greater appreciation among the participants of the methodological challenges they share, and underscored how unfettered sharing of information can accelerate scientific progress as it helps reduce duplication and facilitates exploration of a greater range of possible solutions.  The families with Phelan-McDermid Syndrome looked on in great appreciation as the scientists ventured outside their normal comfort zone to openly share “intimate” (unpublished) details of their research.

Dr. Ricardo Dolmetsch (Stanford University) described his cutting-edge work on induced pluripotent stem cells (iPS cells).  He takes tiny skin samples from patients and, using a special protein cocktail, ”reprograms” them. The painstaking process takes many months to first produce stem cells, and then neurons. Amazingly, Dr. Dolmetsch showed that these neurons behave much like the neurons studied in animal models, which validates both his work and the animal models.  With his iPS-generated neurons in hand, Dr. Dolmetsch plans to test compounds to see which ones are most effective in reversing the deficits seen in these cells.

Dr. Sala studies animal neurons using another experimental approach called “knockdown”.  He simulates what happens in Phelan-McDermid Syndrome patients missing one of their SHANK3 genes by interfering with the production of Shank3 protein.  When Shank3 is knocked down, Dr. Sala noticed a reduction in a receptor called mGluR5. This receptor is normally active during communication between neurons. mGluR5 mobilizes other signaling molecules, gene expression and production of other synaptic proteins. Dr. Sala showed that it is possible to partially restore much of these functions by applying a drug that stimulates the remaining mGluR5 receptors and activates related molecular pathways. This work is vital for identifying potential biological targets for drug development.

In the quest for a quick and efficient path to new therapeutics, Dr.Ozlem Bozdagi Gunal (Mount Sinai School of Medicine) presented exciting new results. Using “knockout” mice missing one SHANK3 gene, she looked to see what known drugs could correct at least some of the synaptic defects. She showed that the structural defects in the synapse lead to failures in the way it functions, especially during learning. The research team identified a drug that allows a particular well-studied form of synaptic strengthening, called long term potentiation, to proceed normally in spite of deficits in Shank3.

Everyone’s eyes and ears were on Dr. Mark Bear (MIT) as he described his groundbreaking work to find treatments for Fragile X Syndrome, another single gene disorder that, like PMS, can cause autism. He brought hard-learned lessons from his translational efforts. He explained that the quickest road to therapeutics requires a detailed understanding of the underlying pathophysiology (disease mechanism), and robust animal and cell model systems for screening and evaluating promising candidate drugs. He emphasized information sharing and the importance of high quality science.
Dr. Roberto Tuchman, the director of the Autism Program at Miami Children’s Hospital Dan Marino Center spoke on the clinical overlap between epilepsy and autism. He explained that epilepsy, when it starts early in life, is a developmental disorder of the brain with similar pathophysiology to autism. He suggested that early detection and treatment of epilepsy is an important way to ensure optimal brain development. Likewise, early detection and treatment of autism could be just as valuable. Dr. Tuchman highlighted new developments in the early behavioral treatment for autism and suggested that these treatments could be effective for all early onset neurodevelopmental disorders in which there is an atypical developmental trajectory. He favors treating at-risk children rather than waiting for a diagnosis of autism or autism spectrum disorder.  By waiting, the window of opportunity to protect development may narrow. He raised the possibility that new drug interventions targeting synaptic pathways common to both epilepsy and autism hold significant promise for disorders such as Phelan-Mcdermid syndrome, in which autism and epilepsy commonly co-exist.
In the final session of the symposium, participants divided into three workgroups.  These breakout sessions hosted lively discussions among family members, clinicians, researchers, and other advocates. These workgroups leveraged topics and ideas discussed earlier in the symposium, with particular attention paid to (1) how the Phelan-McDermid Syndrome patient registry can best meet the needs of its many stakeholders, (2) how clinical research and care guidelines for Phelan-McDermid Syndrome can be advanced, and (3) how the patient advocacy community can help to accelerate translational efforts related to Phelan-McDermid Syndrome.  The breakout sessions proved to be an effective means of engaging all participants to work collaboratively in determining the future directions of PMSF’s research support initiatives.  There is no question that everyone left the meetings with a heightened sense of partnership towards an urgent goal.

  1. RAJensen
    March 20, 2011 at 8:03 am

    The 22q13 (Phelan-McDermid Syndrome ) does not occur anywhere near 1% of general population autism. This extrapolation is based on a few families in small clinical populations. The NIH has a database reference for every genetic syndrome associated with human genetic characteristics. The gene review of Phelan-McDermid Syndrome was written by Katy Phelan, one of the co-discoverers for whom the syndrome gets its name. Phelan-McDermid Syndrome is very rare and aroud 500 cases have been detected worldwide. The prevelance may be higher than that but nowhere near the claim that 1% of all autism cases in the general autism population have Phelan-McDermid Syndrome.

    80% to 85% of childen diagnosed with 22q13 syndrome and SHANK3 mutations are de novo mutations (not present in either parent). The behavioral geneticists focus on studying the consequences rather than cause(s). Mutagenesis is central to evolutionary theory yet the behavioral geneticists appear to assume that humans are the only organisms in nature where environmental influences do not operate.

    Prhaps Dr. Mitz would like to explain why behavioral gneticists have no interest in researching the causes(s) of single gene mutations, which might actually lead to preventions, when in virtually all the single gene disorders the genetic mutation is primarily not inherited or is inherited from an unaffected parent.

    Here is Katy Phelan’s NIH gene review of the syndrome that carries her name:


    And her higher level NIH gene review which includes the worldwide prevalance of the syndrome:


    • Andrew Mitz
      March 20, 2011 at 12:30 pm


      Your points are largely correct. Phelan-McDermid Syndrome (abbreviated PMS) has not been diagnosed in 1% of the autism population. In fact, when you look at the autism spectrum disorder population for clinical cases of PMS you get anywhere from a few percent (most from PDD-NOS) to 0% in one Chinese study. However, when you screen large groups of the autism population for genetic errors, 1% have errors in the SHANK3 gene. (Technically speaking, you could say anyone with a SHANK3 error has PMS, but that is a matter of definitions.) The 1% is very carefully documented in the papers on the PARIS study presented by Dr. Betancur. What these SHANK3 errors mean is hard to know. The current thinking about the molecular basis of autism is that it reflects the breakdown of proper synaptic function, perhaps in certain synapses in certain parts of the brain. Many genetic errors can cause the synaptic failures, since there are many genes that produce the proteins to build properly working synapses. Most of the genetic links to autism point to synaptic genes, which is the basis for that thinking. Researchers believe that autism in many (most?) cases may be from multiple genetic errors (inherited or de novo) that add together and cause synaptic failures. Right now we can identify about 50 single genes that are risk factors for autism, which may explain somewhere between 10% and 15% of autism cases. (Once again, inherited or de novo.) As this list of genes grows, we can begin looking at cases of two or three gene combinations. If the “theory” is correct, it could explain why you might see inheritance from an unaffected parent. The other parent may have another gene (as yet not identified), or a second gene is mutated de novo, and the combination of two unusual genes tips the scales to synaptic failure.

      Syndromes like PMS are just a foot in the door when it comes to understanding what is going wrong. Knowing the genes involved can be used either for prevention or for treatment.

      I guess I can understand the focus on mutagenesis. Everyone is concerned about finding causes. These days, when PMS is diagnosed the parents are studied to look for inheritance. This is done both for science and to council the parents. As I noted above, knowing the cause can help with prevention, although evolutionary theory says we should expect genetic drift regardless of any specific environmental factor. Being able to test knon genes could be an excellent way to identify causitive environmental factors. Knowing the mechanism of disease is more focused on finding treatments.

      I am personally wounded by discounting those of us who are carriers of the inherited form of PMS. (I can trace PMS back five generations in our family.) We represent 15% of the PMS cases and, when the dust has settled, may represent an even greater percentage of all cases of autism spectrum disorders. No one knows. The notion that somehow our children who have inherited autism don’t matter as much does not feel good.

      I guess behavioral geneticists do not focus on environmental causes until a clear linkage has been established. Establishing these links requires large scale studies by epidemiologists. The studies need patient registries advanced computational methods and detailed genetic information to help with classification algorithms. As noted in my article, the PMS Foundation is building out a registry that can add to the many existing ones. Our registry expert (a mom who took on this project) reports that huge autism-related registries and registries of registries are being assembled just for such research. So, there is no question that researchers are working hard to assemble the tools needed to address causes, be they inheritance of multiple risk genes from each parent, or environmental. Certainly, it is no easy task.

      Andrew Mitz
      Father of David (PMS from unbalanced translocation)

      • RAJensen
        March 23, 2011 at 6:36 am

        Dr. Maltz

        What you were probably not told at your conference is the association between Mt Sinai Hospital and several of the speakers at your conference. Joseph Buxbaum has a history of making exaggerated claims about genetics and ‘autism’ genes and that he also along with Mt. Sinai has financial interests that may bias him in making these exaggerated claims.

        Buxbaum found a gene slc25a12 linked to chromosome 2q31-q33 associated with autism. Few studies other than those conducted by Buxbaum’s collaborators have replicated this finding. Why would he exaggerate this association? He applied for a patent for this gene which can be used to create diagnostic tools which insurance companies seldom pay for.

        As far as the 22Q13.3 and SHANK3 genes are concerned, he also has a financial interest in exaggerating the claims. He and his colleague at Mt. Sinai, Ozlam Bozdagi have now applied for a patent for his work in the mouse model of SHANK3 which can be used to develop and test pharmaceutical treatments for the genetic condition. I wouldn’t imply for an instance that he is a fraud, he did create the mouse model and SHANK3 mutations certainly exist and he is entitled to any financial rewards for his patent if drug treatments eventually lead to clinical trials in humans, I am only suggesting that he has a bias and may be making exaggerated claims, particularly with respect to the prevalence of this mutation.

        The behavioral geneticists associated with Mt. Sinai hospital have a history of making exaggerated claims, and taking out patents for pharmaceutical treatments, the most recent example being Eric Hollander who holds a patent for a liquid form of Prozac which he claimed was a remarkable treatment for autism. He was laughed at in England when he made the astonishing claim to the British tabloids that this form of Prozac could be used on autistic children as young as two years of age. He found in his own trials that the patent he held for this form of Prozac produced remarkable results and independent clinical trials, funded by Autism Speaks where held in many centers. These independent clinical trials found that this form of Prozac produced no better results than the group given a placebo.


        There is a pattern of Mt. Sinai behavioral geneticists making exaggerated claims, taking out patents for their work, finding significant improvement in their own clinical trials only to fail to be replicated in independent clinical trials.

        There is a long and frequently tragic history of exaggerated claims for drugs that might ‘cure’ autism going back to the early 1960’s when Loretta Bender claimed she saw significant improvement in autistic children who were given LSD. Followup studies by independent clinical trials failed to replicate her astounding findings.

        More recently Dr. Edward Ritvo in the 1980’s found startling improvement in children who were administered fenfluramine, a diet drug. Parents descended on physicians demanding fenfluramine prescriptions. World wide independent clinical trials were held and fenfluramine was found to be ineffective as a treatment for autism. In 1997 fenfluramine was withdrawn from the marketplace when it was discovered that it had a risk for inducing aortic valve damage.

        There is a disturbing trend, at least in my view, of behavioral geneticists forming partnerships with the pharmaceutical industry to create mouse models to test pharmaceutical ‘cures’ for autism. It is not unique to creating SHANK3 mouse models. Behavioral geneticists aligned with pharmaceutical partners have made the same claims for mouse models of Rhett syndrome, Fragile X syndrome and have made the same claim that a cure for any of these genetic might apply to all cases of autism.

        Did Dr. Buxbaum inform the conference that he and Dr. Bozdagi had applied for a patent for his work and did agree to give any financial rewards they may receive for the SHANK3 gene patents be given to your foundation?


        Under Competing Interests tfe following statement was made:

        ‘OB, TS and JDB have submitted a patent on this work’.

    • Richard Fauth
      March 20, 2011 at 10:38 pm

      I am a little lost here. I have spoken with several behavioral geneticists and i do not arrive at the same conclusion-that there is no interest in single gene studies. Moreover, you imply that Dr. Phelan has rebutted the statement made concerning prevalence. I doubt that is the case as Dr. Phelan attended this same symposium and this statement was made several times.

      Perhaps you should read Durand et al concerning mutations in the Shank 3 gene and try to figure out if deletions, or breaks in the chromosome are considered in the math along with mutations-or not.

      Moreover, i do not understand the 80% to 85% statement you make. You seem to be implying that chromosome breaks and shank 3 mutations when added together are important in making this point while ignoring this same possibility in your first statement.

      I think you are trying to make a case for Environmental factors causing genetic issues-ok i’ll bite-why is this contrary to the article? I do not see anything in the blog that indicates one way or another.

      So other than demonstrating that figures don’t lie, but liars do figure. Is there some reason you think that genetic causes exclude environmental causes and vice versa?

    • Megan
    • Andy Mitz
      March 23, 2011 at 1:36 pm


      I am pretty familiar with Dr. Buxbaum. Like Dr. Buxbaum, I have a patent that I took out when I invented something for my son. I see nothing wrong with entrepreneurship, per se. Dr. Buxbaum has disclosed financial interests at the meetings I have attended, although I don’t recall a complete list of patents, etc.

      I understand your concern for public claims that are boastful and put an overly optimistic spin on research discoveries. I much prefer modesty. I am also acutely aware of charlatanism. When someone suggested we pay for the Tomatis Method to help our child, I found a scientific paper in French that I had someone translate. It completely debunked the phony science for Tomatis. I am very critical about this stuff.

      The fact is, I have complained to Dr. Buxbaum both personally and publicly, including on a blog, whenever I have had concerns. (One of my posts was so negative, I later wrote an apology for its tone.) To Dr. Buxbaum’s credit, he has listened and taken parental input very seriously. Early in working with PMS families, he shifted his style from ultra optimistic predictions about drug discovery to ones that would not raise family expectations too high. I respect him for taking this feedback to heart. I also see value in the pressure he puts on other researchers to think seriously about patentable treatments for PMS and other syndromes. His group was the first to publish the results of a SHANK3 knock-out mouse. On the other hand, a new paper from a different lab has just published more interesting results in a top scientific journal (Nature). Peer review publications do a lot to quiet the rancor. Whatever claims that were made before publication, they new are under the microscope of published data.

      Dr. Buxbaum and his team are not the only ones studying autism. It is a huge field and has many excellent scientists. If you feel that his style is a little like a used car salesman, remember this. Sometimes, a used car salesman has really good cars. Don’t accidently discard the good work just because you don’t agree with the style.

      Andrew Mitz

  2. March 20, 2011 at 8:51 am

    You’re kidding right?

    The reason they were unable to make a mouse model of this problem is that they have not introduced petroleum based coal tar food dyes and the preservative used in many foods, margarine, mayonnaise etc which is made from formaldehyde and sodium cyanide.

    They are ignoring the obvious and try to find the cause in the genetics, Autism IS NOT A GENETIC DISORDER!!!

    While a pregnant woman consumed the artificial additives which cause swelling of the brain stem which in turn causes a ICP and subsequent hypoplasia which is the true cause of autism, Not x-fragile, not PMS. Not anything I just read here.

    I have aspergers syndrome and I discovered how this happened and how it happened to me.

    I will be speaking at the FDA hearings on food dyes and that’s just the beginning.

    My name is Jorma Takala

    Find me on facebook and read my info page and my notes!

    I discovered the cause of Autism.
    And that which I say is the cause simply can not be disputed.
    I am in fact smarter than the doctors listed above.

    Ask me about autism!
    Because I am the ONE who knows the truth.

    The artificial additives cause dna damage, The parents have the problems that lead to autism, Not the child and not their brain.

    How long have their parents been in America? Born here means genetically there’s a trail from dna damage that eventually leads to a genetic pre-disposition for autism and other problems from conception and beyond!

    WAKE UP!

  3. Margo Cook
    March 20, 2011 at 9:03 am

    My son has been involved in this since the beginning when they thought there was a break down in 22! We did not have it but so glad the researsh went somewhere. You never know when you sign up for these studies where they will go! Wonderful Information!! Thank you and Keep up the Great worK!!

  4. Andrew Mitz
    March 20, 2011 at 12:59 pm

    I want to acknowledge the contribution by Joanna Giza, PhD, an expert in this field, who supplied detailed scientific descriptions of the Symposium. Dr. Giza received a stipend from the PMS Foundation to attend the Symposium and summarize the science. This blog, including much of the wording, was based largely on the descriptions she supplied.

    Andrew Mitz

  5. Lisa Pasini
    March 20, 2011 at 8:45 pm

    I agree with Jorma on the food issue. But the genetic research is very interesting and perhaps the knowledge can help alleviate symptoms. I am wondering if certain proteins can help with synaptic function.

    Lisa Pasini

  6. JRShattles
    March 21, 2011 at 7:33 am

    Thank you for the symposium, thank you for the follow-up review in this article, and may all keep an open mind concerning the relevence of the information transfered. Our grandson will be born with 22q13 in several weeks and we are eternally greatful for the real science going on to hopefully discover causes and cures.

  7. Marie Demachy Fauth
    March 21, 2011 at 10:31 pm

    the great thing about Phelan McDermid foundation is that the foundation has been created by parents of children with Phelan McDermid syndromes. Still today, parents are managing this foundation in an amazing way. I have a lot of admiration for them and I wish them the best outcome for their hard work and dedication. They are helping more than just Phelan McDermid Syndrome and autism, they are helping Autism. Thank you.

  8. kristie clark
    March 22, 2011 at 2:47 pm

    hello i have a 12 yr old son who has aspergers and is not sleeping and is starting to have anger issues if there is anything you could share with me id really appriciate it thank kristie

  9. Katie Wright
    March 22, 2011 at 9:21 pm

    I think parents of all ASD kids can respect the work of PMS scientists all the while not finding this research applicable to autism experienced by the vast majority of the ASD population.

    We are not trying to hurt feelings here just fighting for our children, whose voices, medical issues and envionmental symtoms have been almost entirely ignored until recently. Unfairly or not there is tremendous impatience among ASD families w/ single gene genetic research. We can respect the battle and hard won accomplishments of the PMS families while failing to see the relevance of such research to our kids. I wish these families nothing but the best for their children.

    • RAJensen
      March 24, 2011 at 10:23 am

      The single gene disorders have unique characteristics that may not apply to what is called ‘ordinary’ or ‘idiopathic autism’. In general, certainly with exceptions, they tend to be associated with intellectual and severe disability with or without co-occuring autistic-like features, increased risk for a broad spectrum of developmental problems including risk for schizophenia, ADHD, a more equal male female ratio, more dysmporphic features and a greater presence of microcephaly (small brain)rather than macrocephaly (large brains).

      In fact Moss and Howlin have published an excellent paper that examined the single -gene disorders and found that the single-gene disorders featured what they call superficial autistic type features with many single gene disorders have a ‘unique’ signature of superficial autistic type features associated with the specific single gene disorder and the severity of intellectual disability.


      One of the more surprising, counter-intuitive findings in the single gene disorders is that they primarily involve de novo mutations that are not present in either parent. Fragile X is unique in that it follows Mendelian patterns of inheritance. The single gene disorders where most cases involve a new mutation and a small group with co-occuring autism include:
      Phelan McDermit Syndrome (80 -85% de novo)
      Downs Syndrome (99% de novo)
      Rhett syndrome (99% de novo)
      Timothy Syndrome (90% de novo)
      Angelmans Syndrome (70% de novo)
      Prader Willis Syndrome (70% de novo)
      Tuberous Sclerosis (66% de novo)
      Klinefelter Syndrome (99% de novo)
      That is a partial list.

      you can look them up in the NIH’s genetic refernce data base:


      All of these single gene disorders are not primarily heritable at all suggesting substantial ambiguity in the concepts of ‘genetics’ and ‘heritability’ which are all to frequently used by behavioral geneticists as if ‘genetics’ and ‘heritabilty’ are interchangeable concepts, which they are not.

      The single gene disorders cannot be minimized and in many ways present even more challenges to the families than idiopathic autism but it is doubtful whether they even ought to be considered as being on a putative ‘Autism Spectrum’ at all.

      The behavioral geneticists study only the consequences of de novo mutations but a severly neglected area of research is answering the question of what causes new genetic mutations’?

      Kinney et al have an excellent paper that desribes environmental factors that may contribute to de novo mutations in single gene disorders in humans:


      • Andrew Mitz
        March 24, 2011 at 2:00 pm


        I appreciate your viewpoint. I would like to offer two observations.

        First, Although Phelan-McDermid Syndrome causes multiple disabilities in most cases, when you look at patients with the smallest chromosomal deletions, ones that affect little more than the SHANK3 gene, they look like “ordinary” or “idiopathic” autism patients. (Thank you for not calling it “real autism”!) So, punctate SHANK3 errors do appear to be a good general model for autism. This fact sometimes gets lost in the literature, since the original population of patients started with large chromosomal breaks. It is this sub-group that has generated much of the excitement over studying the synaptic mechanisms of SHANK3.

        The argument about heritability has a serious sampling bias, because practically none of these patients reproduce. These defects are probably highly heritable, but the statistics are biased by the physical and cultural limitations of the affected individuals.

        Just a few thoughts.

        Andrew Mitz

  10. Katie Wright
    March 23, 2011 at 3:19 pm

    Doctor Buxbaum would engender a lot more support in the ASD community if he researched issues that are a high priority to the hugely underserved population of medically affected kids .

    Gi disease, auto immune dysfunction, ivig, regression, adverse vaccine reactions, severe allergies….these issues affect over 50% of kids and what is mt Sinai doing for them?

    • Andrew Mitz
      March 23, 2011 at 5:18 pm


      I want to address PMS research first. PMS is only rarely a single gene syndrome. It usually knocks out many genes. SHANK3 is an important one for both PMS and for autism science, but our families deal with many health issues.

      I asked several researchers about SHANK3 and other organs. So far, there are no obvious histological abnormalities caused by SHANK3. There are scientists in other fields looking at SHANK3 in the heart and stomach epithelial cells. Dr. Dolmetsch may have an opportunity to study cardiac myocytes in PMS patients, so some work is being done. Probably the most important work for PMS patients was the winner of the PhD student poster, who is studying deletion size and many of the PMS issues you listed. She plans to extend her analysis to see which other genes might contribute to Gi disease, regression, etc. The registry is crucial, as well. The sooner families put their information in to the PMS patient registry, the sooner these important questions can be studied in a systematic way. I, for one, would like to understand why my son, David overheats in the summer and shakes violently when he steps out of a swimming pool. His body does not properly temperature regulate and it gets dangerous when he spikes a fever. I am sure there is an explanation. I just have to wait.

      As for other causes of ASDs, there are multiple registries for rare diseases and there is interest in developing a master registry for ASDs. To his credit, Dr. Buxbaum is an advocate of pooling autism registry information together to maximize both basic science and clinical research.

      The PMS Foundation will host another Symposium in 2011. That meeting will be focused on developing best medical practices for PMS. The families feel like you do. They deal with more than social skills, language and repetative behaviors. I am not aware of what other organizations are doing. I think it is important for you and other parents to advocate for your children. Work through an organization to let scientist know what health issues are most important to address first. We have put a special emphasis on epilepsy and seizures, because they can be life-threatening to PMS patients. I believe Timothy Syndrome families have focused on heart problems, for the same reason.

      Andrew Mitz

  11. Katie Wright
    March 25, 2011 at 11:57 am

    Dear Andrew,

    The work you and other families have done is awe inspiring. It is wonderful that Mt Sinai is so committed to a are disease that affects a 1,000 people. That only happens because of both parental pressure and parental fundraising.

    Yes there are multiple registries for ASD but honestly most families find them of minimal value and would rather see those $ invested into environmental research and clinical interventions. Social skills are the least of my son’s problems, I had to travel all over the country for basic medical help. It is frustrating that Mt Sinai research is largely genetic and behavioral. Outside of the most high functioning Mt Sinai is serving few children living w/ ASD today. It isn’t acceptable. Environmental research is often directly connected to symptomology – and our kids need help now. We can do so much better than just prescribing anti-psychotics. Mt Sinai owes the community so much more.

  12. Marie Demachy Fauth
    March 26, 2011 at 9:27 pm

    Environmental factors can affect genetic. That’s why it’s important to expand genetic testings and screenings to learn more about autism-genetics-epigenetics. Parents with children with autism should open their mind to do genetic tests so they could move forward into the subject of autism and research. I have been surprised to learn about my son’s genetic mutations, I didn’t have any clue why my son had autism prior to the testings, maybe these findings will teach us more in the future. Dr. Buxbaum is doing research in the genetic field, other researchers are working in the field of environment. Autism Speaks is funding research in autism and environmental factors. I read some interesting articles about this subject and I am excited about the results. I wish them all the best.All together, I hope it will shed more lights on Autism. But to understand children with a syndrome can really help understand a part of the mechanism of autism.

  13. July 8, 2011 at 4:56 am

    vast information and reliable details..

  14. October 29, 2011 at 7:04 pm

    First class writing!!

  1. March 23, 2011 at 10:47 am
  2. April 17, 2011 at 12:15 am

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