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If you have a child with Down syndrome between the ages of 12 and 25, a group of renowned specialists at the University of Utah needs your help for a clinical study. Learn about the long range goals of this study and how your child can participate.
University of Utah Clinical Study
(Please contact melissa.burback@utah.edu to participate or for more information)
A couple of weeks ago I was invited to meet with Dr. Julie R. Korenberg, Director of the Center for Integrated Neuroscience and Human Behavior and an international expert on Down syndrome, and her distinguished group of doctors at the University of Utah to discuss a proposed study and the opportunity for UDSF families to participate in that study.
Dr. Korenberg is working with a number of other internationally respected experts on Down syndrome and imaging the brain, all of whom are right here in Utah. Those of you whose babies were born in this state may have met Dr. John Carey, whose specialty is genetics and who provided me with the genetic information about my son Ben almost 18 years ago. Many of you take your children to see Dr. George Durham, who is another member of this experienced research team. Dr. Robert Ward is Director of the Pediatric Pharmacology Program at the University of Utah, and the internationally-know experts on brain imaging include Dr. Deborah Yurgelun-Todd and Dr. Perry Renshaw. All of the highly skilled professionals connected with this proposed study have worked for years in their respective medical fields to improve the lives of individuals with Down syndrome.
Currently, the group is hoping to receive a grant to study the brain and unravel the mysteries of cognition and brain circuit differences in individuals with Down syndrome. This is a long term study, and our children may not even be around to personally reap the benefits from it. But it is exciting to think that they can be part a study which may some day open the doors so that we can better understand how to improve speech and language skills and lower risk factors for medical problems such as seizures and Alzheimer’s Disease, and thus improve the quality of life for all individuals with Down syndrome.
Dr. Korenberg needs individuals with Down syndrome between the ages of 12 and 25 to participate in the study. This is a wonderful opportunity for UDSF families to partner with a group of medical experts who are willing not only to keep us informed about the nature and progress of the study but also to share their knowledge and expertise regarding Down syndrome.
If you would be willing to have your child participate in this study, or for more information about this research project, please contact melissa.burback@utah.edu.
Ann Marie Christensen
State Board President
Utah Down Syndrome Foundation
Please read the following information from
Dr. Korenberg regarding the proposed study:
Down syndrome: A New Approach and Study for Bridging Genes, Brain and Cognition
Down syndrome (DS) or trisomy for chromosome 21, is a major cause of mental retardation and congenital heart disease, that affects more than 400,000 individuals in the USA. In addition, people with DS have defects in memory, language and neuroanatomy and are at increased risk for autism, seizures, and Alzheimer’s Disease. The ultimate goal of this proposal is to elucidate the genes, neuroanatomy and neurocircuitry linked to the neurocognitive defects of DS. Recent advances in human genome sequencing provide a complete list of chromosome 21 genes, but until recently, there were no genes linked to any specific feature, little understanding of the brain and no successful treatment for the cognitive deficits.
A new group of internationally known experts at the University of Utah, the Brain Institute and Primary Children’s Hospital have begun an innovative multidisciplinary approach integrating neuroimaging, cognitive testing and genetics.
To characterize brain structure, cognition and language in DS, this unique team of scientists will study individuals with trisomy and partial trisomy 21 utilizing neurocognitive and language testing targeted to DS, Magnetic Resonance Imaging and Diffusion tensor imaging, NMR Spectroscopy, and human chromosome 21. This team will seek to establish the neurocircuitry that is altered in DS and to link these to chromosome 21 genes. The results will provide unprecedented knowledge of the problems of brain development, cognition and language in DS and will help to develop novel treatments for DS and other intellectual disabilities.
The first goal is to find families that might be interested in participating. If your family is interested in finding out more or participating in this study, please contact Melissa Burback at Melissa.burback@utah.edu.
The team is looking forward to joining together with the families of Utah to help improve the quality of life of families with Down syndrome.
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Help us help families who have children with disabilities!
BYU family life, nursing, and special education faculty are studying the strengths and challenges families encounter when raising a child with a disability or chronic condition (autism, Down syndrome, intellectual disabilities, diabetes, spina bifida, cerebral palsy, musculoskeletal condition, etc.)
We are searching for parents
(single parents and married parents of all ages)
of children with a disability or chronic condition to:
Complete 2 sets of questionnaires.
Also, a school-aged brother or sister
(ages 8-18 preferred)
of the child with the disability
or chronic condition will:
Participate in a 1 hour interview.
Complete a 6 question daily diary for 2 weeks.
Families are given a financial incentive for their participation.
If you are interested, please contact:
Tina Dyches
(801) 422-5045
tina_dyches@byu.edu
-or-
Barbara Mandleco
801-422-7199
barbara_mandleco@byu.edu |