SPARK PROGRAM FOR AUTISM

There is a new registry for Autism based at Univ California San Diego. This is called the Spark Program. 50% of children with myotonic dystrophy have some type of autism. I think that studying the autism in myotonic dystrophy would lead to some discovery of the genetic basis of autism.

If you or your child has a professional diagnosis of autism, you are eligible to participate in the SPARK research study!

Help Speed Up Autism Research: Join SPARK today!

What is SPARK?
SPARK is the largest autism research project in US history, seeking to create a cohort of 50,00 individuals diagnosed with ASD and their biological family members. The entire autism community is encouraged to participate! There is NO cost to take part in SPARK. The research is sponsored by the Simons Foundation Autism Research Initiative (SFARI). We hope that this will lead to more insights of autism in myotonic dystrophy

Our Goal:
Our goal is to build a community of 50,000 individuals with autism and their biological family members as we seek to speed up research and improve our understanding of autism — including learning what causes autism and how best to treat it. UCSD Autism Center of Excellence and over 25 of the nation’s leading medical schools and autism research centers are part of this effort. The entire autism community is encouraged to participate! There is NO cost to take part in SPARK.

What We Do:
SPARK researchers extract genetic data through a saliva sample, and they study genes and information collected from thousands of people and their biological parents. At the same time, we aim to make participation as simple as possible, create an interconnected community, and share resources and information to our participants! We hope you will join us! 

How to Join:

  1. Sign-up online: here. It only takes 20 minutes. 
    *If you are prompted with the question: Were you referred by a university, hospital, or registry? Please selectUCSD/SARRC
  2. Complete a few questionnaires online. 
  3. Provide a saliva sample. A saliva collection kit will be mailed to your home within 2-3 weeks after completing the registration. When you are done, simply mail it back to us for free. 

Benefits of Joining:

  1. If a genetic finding is discovered related to the cause of autism in a saliva sample, results will be shred back with families.
  2. Individuals with autism will receive gift cards valued up to $50 for participating.
  3. Families will have access to the latest research, articles, and monthly webinars featuring speakers from the autism community that provide useful information for families and diagnosed individuals.
  4. The information you provide will help others with ASD in the future!

If you have any questions or would like to schedule an in-home appointment to complete the study, please contact our SPARK coordinator at (858) 534-6906 or SPARKForAutism@ucsd.edu. 

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Study of Childhood and Congenital Myotonic Dystrophy

Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.

“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”

BELOW click on hyperlink for full study in PDF form.

Childhood Myotonic dystrophy 2015

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News from 1966 – Mental Retardation and Myotonic Dystrophy

A recent republished article appeared in Pediatrics. Dr. Calderon described 6 cases of Congential Myotonic Dystrophy that had global delay. He also complied 55 cases 53 or which had global developmental delay. The diagnosis were by muscle biopsy then no DNA tests were available. The information urged using this as a differential diagnosis.

Below is the PDF of the article

Mental Retardation and Myotonic Dystrophy 1966

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Isis Pharmaceuticals Myotonic Drug

Informal reports continue to give good vibes on the drug that Isis pharmaceuticals is developing for myotonic dystrophy (DM). The drug is an antisense approach one that will break up the clogs that are causing the DM disease. Very little information is being released by the company, however.

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Isis Myotonic Drug Considered for Autism Accelerated Trials

The fast fail initiative is considering many potential autism drugs including Isis Pharmaceutical’s pending drug to treat myotonic dystrophy. ThisĀ  “FAST FAIL” initiative funded by NIH looks at promising drugs to treat Autism and several other conditions. It enables the drug to go to human trials earlier and see if the drug will pan out. The Isis drug by far is the most probable drug to treat and reverse the course of the Autism disease.

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