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Boston Children's has launched the world's 1st program dedicated to offering hand transplants to children who qualify.
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Deep brain stimulation
Deep brain stimulation (DBS) is an emerging treatment for primary dystonia that uses an implanted neurostimulator, a device similar to a pacemaker, to send mild electrical pulses to selected parts of the brain. The Food and Drug Administration has granted Boston Children’s approval to use DBS in children 7 and older with primary dystonia that has not responded to medications. Led by Scellig Stone, MD, PhD, at Boston Children’s, we will be tracking patients’ long-term outcomes as part of a hospital-approved treatment protocol.
Brain mechanisms of movement disorders
Research on movement disorders seeks to learn how the brain is altered to cause abnormal movements, how genetic mutations lead to these changes and what parts of the brain are involved. For example, we know of different genetic mutations that are associated with primary dystonia, but we don’t know how the mutations actually lead to dystonia, or what other genetic traits make the symptoms less or more severe. Together with Nutan Sharma, MD, PhD, at Massachusetts General Hospital, we are working to understand the cellular and molecular pathways that cause dystonia.
Brain imaging in pediatric dystonia
Jeff Waugh, MD, PhD, at Boston Children’s, is conducting research using advanced brain MRI imaging in children and young adults with dystonia. This research aims to determine what brain regions are malfunctioning and whether children with dystonia have differences in brain structure and function that explain their condition. (For enrollment information, contact email@example.com).
Dystonia genotype-phenotype correlations
This study, conducted in conjunction with Massachusetts General Hospital, is seeking genotypes (genetic makeups) and/or brain characteristics that give information to better predict, diagnose or treat dystonia. It is currently enrolling adults and teens who have a focal dystonia (such as cervical dystonia, a segmental dystonia, a multi-focal dystonia or a known dystonia gene mutation), as well as healthy adults. The study includes a physical exam, a blood draw and brain imaging.
In addition, this program has established a genetic and tissue bank to collect and store samples and information from people with dystonia for research purposes. Anyone 7 or older diagnosed with any type of dystonia can take part. For information about either study, contact: Trisha Multhaupt-Buell, MS, CGC, firstname.lastname@example.org.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”