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Pitt Hopkins Syndrome (PTHS) is a rare and severe neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by significant developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures and severe intellectual disability. Most individuals with Pitt Hopkins do not develop functional speech. Pitt Hopkins affects all races and both genders equally. !Although the cause of PTHS is known, there is no cure. Current treatments focus on managing symptoms and are not extremely effective. The Pitt Hopkins Research Foundation (PHRF) is committed to funding research that will lead to better treatments and eventually a cure. !Learn about PTHS and why we believe a cure is within reach...
WHAT IS PITT HOPKINS?
www.pitthopkins.org
GET INVOLVEDWE ARE PASSIONATE… BUT WE ARE NOT PATIENT !The PHRF is focused on one goal: developing treatments for, and ultimately curing, Pitt Hopkins Syndrome as quickly as possible. Your involvement is critical in helping us reach this goal. !!!At the Pitt Hopkins Research Foundation, we are proud to say that 98 % of our donations go directly to scientific research. We are an organization run by a volunteer board of families personally committed to our cause. In only two years we have funded groundbreaking research at institutions all over the world including Harvard, MIT, UNC and UAB. !"The warp speed pace of your foundation and research is simply unbelievable. Having the best universities in the country immersed in a friendly competition to be the one that cracks PTHS is an incredible feat for any foundation, let alone one that services an ultra rare syndrome like Pitt-Hopkins." —Dr. Andrew Kennedy, University of Alabama at Birmingham !!!!!!
We don’t just hope for miracles. We fight for them.
Join our army and be part of the miracle.
DON’T JUST HOPE FOR MIRACLES… FIGHT FOR THEM!
Pitt Hopkins Syndrome (PTHS) is a rare and severe neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by significant developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures and severe intellectual disability. Most individuals with Pitt Hopkins do not develop functional speech. Pitt Hopkins affects all races and both genders equally.
Since the gene that causes Pitt Hopkins was only found in 2007, currently there are approximately 450 children in the world diagnosed with this syndrome, however we believe there are many more.
Overall prevalence of PTHS is unknown. However, one laboratory estimated that the frequency of chromosome 18q21 deletions associated with PTHS is between 1 in 34,000 and 1 in 41,000.
PO Box 6257 Plymouth, MA 02362 [email protected]
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DONATE AT www.pitthopkins.org TODAY.
Pitt Hopkins Research
Foundation
The mission of the Pitt Hopkins Research Foundation (PHRF) is to support research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins Syndrome (PTHS) and other similar disorders. The PHRF is also dedicated to supporting the PTHS community with resource recommendations, parental support and the latest medical information. !!Our board and officers are parents and professionals who volunteer their time, so that 98% of funds raised and donated go to finding a cure. Our goal is to find a treatment as quickly as possible that will help give our children higher functioning, fuller lives. !!The Science Advisory Board for the Pitt Hopkins Research Foundation is comprised of top scientists around the country who are able to offer their expertise in advising the PHRF Board of Directors. Duties include reviewing grant proposals and budgets and offering expert opinions about the direction of research into Pitt Hopkins Syndrome.
Board of Directors
Scientific Advisory Board
To learn more about the PHRF, our mission, and the professionals working towards our goal, please visit www.pitthopkins.org/foundation
It is hard to believe that just a year and a half ago there was no laboratory research. Now, there are researchers, supported by the PHRF, at institutions all over the world including Harvard, MIT, the University of North Carolina, the University of Alabama, Birmingham, the Seaver Autism Center at Mount Sinai School of Medicine and the Tallinn Institute of Technology in Estonia, studying Pitt Hopkins Syndrome. This research is funded by your generous donations. Thank you. Your donations give us so much more than money - they give us hope. !!The gene that causes Pitt Hopkins, TCF4 on the 18th chromosome, is actually a transcription factor, which means that it regulates many other genes—genes that are implicated in Autism, Schizophrenia and other neurological disorders. Our research has the potential to reach far beyond Pitt Hopkins and help many. TCF4 abnormalities are also implicated in liver disease and corneal endothelial dystrophy. !!“Today, there are more than 7,000 known ‘rare’ disorders. But when they are all grouped together, we find that these conditions affect as many as 30 million Americans. That’s roughly one in 10 people living in the United States… !…Curing and solving ‘rare’ diseases is important because of the millions of lives directly affected by them. But it doesn’t end there–not even close–because hiding deep inside of everyone with a rare genetic condition is a secret that, if they choose to share it, might one day serve to cure and help every last one of us.” !From Inheritance: How Our Genes Change Our Lives– and Our Lives Change Our Genes by Sharon Moalem, PHD, MD, Grand Central Press
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OUR RESEARCHOUR MISSION
"Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder
needing medication. But it's all changing..."
TCF4 Is Important To Us All
RARE DISEASES UNLOCK CURES FOR ALL OF US
Recently we have heard from various researchers who have found TCF4 mutations in children with mild forms of Autism and intellectual disability. These are important findings that reaffirm our hypothesis that even though approximately 450 children have been diagnosed with Pitt Hopkins, mutations of TCF4 are likely occurring in a much broader segment. It's just that only the most severe cases receive genetic testing. !The following criteria represent the characteristics of children already diagnosed with PTHS. Every day we are learning more about this syndrome. !NOT ALL OF THESE SYMPTOMS NEED TO BE PRESENT TO CONSIDER FURTHER TESTING. !• Evidence of developmental delay by age
6-12mths, eventually classified as severe • Fetal fingertip pads still present • Constipation, often severe • Hypotonia • Breath holding and apnea (less than 50%)* • Speech impairment, with minimal to no use
of words; receptive language skills and nonverbal communication skills higher than expressive language skills
• Movement or balance disorder, usually ataxia of gait
• Behavioral uniqueness, including any combination of apparent happy demeanor; excitability, often with hand-flapping movements; short attention span; squealing
• Delayed or disproportionately slow growth in head circumference
• Seizures (approx. 50%) • Wide mouth, wide-spaced teeth • Frequent drooling • Excessive chewing/mouthing behaviors • Strabismus or exotropia !* Not all children with PTHS present with breathing anomalies. Many only present in later childhood or early adolescence, if at all.
Diagnostic Criteria
—Dr. Tom Insel, Director of the National Institute of Mental Health, New York Times, 2010
