A genetic disorder caused by silencing of a gene on the X chromosome, fragile X syndrome affects about one child in 5,000, and is more common and more severe in boys. It often causes mild to moderate intellectual disabilities as well as behavioral and learning challenges.
Amy Talboy, MD
The gene responsible for fragile X syndrome, the most common inherited form of intellectual disability, was identified more than 25 years ago. Emory genetics chair Stephen Warren played a major role in achieving that milestone. His work led to insights into the molecular details of learning and memory, and nationwide clinical trials — which have a more complicated story.
Treating the molecular basis of a neurodevelopmental disorder, instead of simply addressing symptoms, is a lofty goal – one that remains unfulfilled. Now a new study, supported by the National Institute of Neurological Disorders and Stroke, is reviving a pharmacological strategy that Warren had a hand in developing.
“This is a very well thought out approach to studying changes in language and learning in children who are difficult to test,” says Amy Talboy, medical director of Emory’s Down Syndrome and Fragile X clinics, who is an investigator in the NINDS study. “It could change how we conduct these types of studies in the future.” Read more
Elopement may sound cute, because the word evokes a starry-eyed couple running away to get married. Elopement also refers to when a child runs or wanders from a safe, supervised environment. It can be a worrisome concern among the parents and caregivers of children with autism spectrum disorder and/or intellectual disability.
Here is a straightforward post from Seattle Children’s on elopement. Cathy Rice, now director of Emory Autism Center and previously at the CDC, has published two papers on elopement.
This May, Nathan Call, director of Severe Behavior Programs at Marcus Autism Center, and colleagues published a retrospective review of their behavioral treatments for elopement, extending back to 2003. This is a companion to their 2015 analysis of treatment for pica, the ingestion of inedible substances. Call is also assistant professor of pediatrics at Emory University School of Medicine.
He summarized their approach by saying: “Individualizing treatment based upon the reason each child elopes seems to work very well.” The paper makes it clear that the reasons for a child eloping were a mixed bag: for some it was “access to preferred tangible items,” for others it was access to attention or other reasons.
Elopement can be difficult to study scientifically because the consequences of just letting it happen may be disastrous. In an interview, Call described one child who was attracted by balloons. He eloped so readily that he had been struck by cars twice, one time because he was drawn to a balloon display at a nearby apartment complex.
The 11 children in the review were ages 5 to 12, and 7 had a diagnosis of autism spectrum disorder – others had Down syndrome or intellectual disability. Read more
The Joseph B. Whitehead Foundation has given $30 million to Childrenâ€™s Healthcare of Atlanta to support pediatric research. The grant includes $25 million to help fund a new research building located on the Emory campus, and $5 million to support the Marcus Autism Center.
The grant will allow Childrenâ€™s and Emory to expand their research partnership, attract top scientists, and advance research discoveries that will improve the health of children.
Some of the pediatric research conducted in a new building to be built on the Emory campus will focus on cardiology, cancer, vaccines, and new drug discovery. The grant has implications for the city of Atlanta as a growing research community, building on collaborations among Childrenâ€™s Healthcare, Emory, Georgia Institute of Technology, Morehouse School of Medicine, and others.
Fred Sanfilippo, MD, PhD, executive vice president for health affairs at Emory, and Donna W. Hyland, president and CEO of Children’s Healthcare of Atlanta, explained that the new grant, which is the largest single gift ever to Children’s, will have an enormous impact on the two institutions, building on the strong partnership between Emory and Children’s and leading them to become a major pediatric research hub in the Southeast and the nation. Most importantly, it will help in finding cures for some of the most common and devastating childhood diseases.
Posted on November 13, 2009