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.
Donna McDonald-McGinn, MS, CGC “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.”
“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.”