PHILADELPHIA, July 18, 2016 /PRNewswire-USNewswire/ -- International experts are gathering this week in northern Italy to exchange information on a multisystem chromosome-based birth defect that is nearly as common as Down syndrome but is little known to the general public and even to many healthcare providers.
The disorder, chromosome 22q11.2 deletion syndrome, is named for the location on human chromosome 22 at which some DNA is missing. This loss of genetic material can have broad lifelong effects—on the heart, brain, and other systems, and on overall development and behavior. Yet many patients and families experience a difficult diagnostic odyssey, sometimes for years, before a clinician pinpoints the underlying cause of these symptoms in a child or adult.
"Sharing our research and clinical experience about this condition is crucial to both diagnosing and managing this syndrome—as well as raising public awareness," said Donna McDonald-McGinn, MS, CGC, associate director of Clinical Genetics at The Children's Hospital of Philadelphia (CHOP) and director of CHOP's 22q and You Center. "One important focus is our growing knowledge of the links between 22q and conditions such as schizophrenia and anxiety disorders."
McDonald-McGinn plays a pivotal role in this week's events, as program chair for the 10th Biennial International 22q11.2 Conference, meeting Wednesday through Friday in Sirmione, Italy. Conference participants represent 22 nations from four continents. Nearly a quarter of the 133 presentations are by CHOP clinicians and scientists, from areas such as genetics, plastic surgery, cardiology, fetal surgery, endocrinology, hematology, gastroenterology, immunology, ENT, speech, psychology and psychiatry.
"This list of pediatric subspecialties reflects the wide range of effects caused by this syndrome," said McDonald-McGinn. "It also reflects the multidisciplinary, integrated approach we take at the 22q and You Center, the nation's largest clinical program dedicated to this condition."
McDonald-McGinn also co-chairs a pre-conference symposium on Monday and Tuesday for the International 22q11.2 Brain and Behavior Consortium, focusing on the biological causes of mental illness related to the syndrome. Rounding out the week, she is chairing a family meeting from Friday to Sunday that brings together scientific experts with family members of patients.
"The parent-professional partnership is key to mobilizing healthcare systems and regulatory agencies in connection with important initiatives such as newborn screening programs and standardized management guidelines for 22q11.2 deletion syndrome," said McDonald-McGinn. "This partnership is also important in visibility campaigns, such as the 22q at the Zoo Worldwide Awareness Day events that occur every year on the third Sunday in May."
To learn more about the 22q and You Center at CHOP, please visit http://www.chop.edu/centers-programs/22q-and-you-center
About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 535-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.
Contact: John Ascenzi
The Children's Hospital of Philadelphia
Phone: (267) 426-6055
SOURCE The Children's Hospital of Philadelphia