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. 

International Scientist meeting of Myotonic Dystrophy Researchers in San Francisco Sept 5-9 2017

The IDMC meeting will be in San Fransisco this year. Make plans to attend the scientific sessions  or the meeting of the Myotonic Dystrophy foundation

Please save September 5th – 9th, 2017 for the IDMC-11 conference being held in San Francisco, California. If you are interested in receiving updates about IDMC-11, please sign up online at www.idmc11.org.

IDMC 11

Welcome to the IDMC website, home of the International Myotonic Dystrophy Consortium (IDMC, or International Dystrophia Myotonica Consortia). This site is dedicated to the community of scientists, physicians and health care providers who have taken up the fight against Myotonic Dystrophy, a progressive neuromuscular disease that effects people and families around the world.

Case study report of experimental use of approved FDA drugs to reverse myotonic dystrophy symtoms (DM1)

Encinitas, CA Two recent published studies reviewed the use of FDA approved drugs in Mice that reversed some myotonic dystrophy symptoms.  The mice showed improvement in muscle strength after a regime of using these approved rugs in appropriate dosages.

My son Chris has Congential Myotonic Dystrophy with a repeat count of about 1700. He is severely affected being non-verbal, cognitive delays, autistic spectrum disorder, and some muscle involvement. Chris also has the adult form of the disease as he reached puberty and has a level 1 heartblock, excessive sleepiness and other adult symptoms.

He has had 3 bouts of respiratory collapse. This initially involved a Hospital Stay, MSRA pneumonia. Within a very short period of time of initial symptoms he was in the ICU on a respirator and full dosages of heavy antibiotics including vancomycin. Recovery was uncertain and very slow. Tracheotomy was performed as weaning from the respiratory was difficult and dangerous. Full recovery was accomplished at 120 days. USA Hospital costs was approximately $750,000 for this. Two other bouts of respiratory collapse related to pneumonia occurred with similar outcomes.

We decided to pursue an experimental course of treatment with these FDA approved drugs due to concerns that he might not survive another bout of respiratory collapse.

In April 2016  we initiated a course of treatment on Erythromycin after consultation with pneumologist, cardiologist, cardiology expert in DM, and primary care Physician. The Primary care physician wrote the script for erythromycin. The cardiology team was involved as there is a contraindication for erythromycin with cardiac arrhythmia’s. The course was 2X daily 125mg of Erythromycin orally.

In May 2016 we added a daily dose of 80 Mg of Ketoprophen as this drug was found to have a positive effect on mice as well in ameliorating the myotonic dystrophy symptoms.

Results: We did not use any formal metrics in evaluating the results of the trials. The main reporting point was discussions with caregivers to see if there was any improvement in cognitive or strength related improvement in the patient. These conversations were all convergent in :

Overall Muscle strength               NOT IMPROVED
Overall Cognitive Abilities             NOT IMPROVED
Chest Congestion                        DECREASED SOUNDS
OF SECRETION CLEARING

# of Pneumonia Infections           IMPROVED

Overall the results of this 8 month trial did not replicated the information in the two mice studies. There was no increased muscle strength noted by caregivers. There did seem to be a significant improvement in clearing secretions in the lungs which is a critical factor in this patients Quality of Life (QOL). No Pneumonia infections were reported. this is a significant improvement over the last 12 months.

Discussion: Overall it appears that this therapy may have had an positive  impact on the patient. Overall the results of this one case did not replicate the studies that used mice in terms of improvements in muscle strength. this may be due to a number of reasons including dosing strength. It could also be that the mice that are created to have myotonic dystrophy are not the ideal method to test drugs the the DM in these mice may be more susceptible to disruption that the actual DM gene in human patients.

Patients with Congenital Myotonic Dystrophy and certain other patients (older than 57) are currently excluded from clinical new drug trials. Myotonic Dystrophy is slowly progressive until an exponential event occurs. Because of the risk of sudden death and pneumonia with these cases is ongoing looking for alternatives to reduce risk of death may be warranted by patients health care team.

 

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

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