Newswise — Toronto, ON – Leading scientists from over 20 countries will present their latest findings on 22q, a syndrome caused by a small deletion on the 22nd chromosome, at the 10th Biennial International 22q11.2 Conference beginning today in Sirmione, Italy. Newborn screening, recent studies of non-invasive prenatal testing, best practice management and prevention methods across the lifespan of a patient with 22q, will be discussed during the two-day meeting.
“The grueling diagnostic odyssey that many of our patients endure due mainly to a lack of information and awareness among both the healthcare community and general public is regrettable and preventable,” says Dr. Anne Bassett, Director, The Dalglish Family 22q Clinic, part of the Peter Munk Cardiac Centre, University Health Network. “An accurate diagnosis and proper individualized treatment for the many systems in the body directly impacted by 22q, can be significant in supporting these patients to attain a quality of life, and can prevent unnecessary hospitalizations and treatments,” says Dr. Bassett, a keynote presenter at the global conference, Canada Research Chair in Schizophrenia Genetics and Genomic Disorders and Senior Scientist, Toronto General Research Institute.
Studies show 1 in 100 individuals with Schizophrenia, 1 in 100 with intellectual disability, and 1 in 8 patients with tetralogy of Fallot (a heart defect that is associated with “blue babies”), have 22q.
Thought to occur in 1 in 3000 live births globally, 22q affects some 15,000 to 30,000 Canadians, many of whom remain undiagnosed. The condition is typically caused by a natural, spontaneous genetic change that occurs on the 22nd chromosome prior to conception. Having a piece missing at the 22q11.2 region of one chromosome 22 can lead to a host of medical and psychiatric issues. These may include congenital heart defects, abnormalities of the palate and speech, neurological conditions and issues related to development and learning, mood and behaviour as well as dietary and psychosocial challenges.
“The one-stop clinic model developed for adult patients with 22q and housed at Toronto General Hospital is a global first, and enables our team of multi-disciplinary healthcare professionals to treat these patients for each aspect of this complex condition, in a single clinic,” says Dr. Barry Rubin, Medical Director, Peter Munk Cardiac Centre. “Providing this type of novel, integrated care is part of our continuous commitment to excellence in care for patients with cardiovascular disease, and driven by an unrelenting focus on innovation. It means these patients and their families can see a psychiatrist, cardiologist, endocrinologist, social worker, dietitian and other medical specialists in one clinic setting.”
“Advancing our understanding about a still little-known condition through scientific discovery and research findings is pivotal to better management and most importantly diagnosis of this condition,” says Donna M. McDonald-McGinn, Associate Director of Clinical Genetics and Director of the 22q and You Center, The Children’s Hospital of Philadelphia. “Increasingly strong links between 22q and other commonly-known conditions like Schizophrenia and Anxiety disorders, among others, will be addressed at the conference and necessitate greater global awareness,” she says.
Leading scientists from over 20 countries will present their latest findings on 22q, including support for newborn screening, recent studies of non-invasive prenatal testing, and best practice management and prevention methods across the lifespan during the two-day meeting. Studies show 1 in 100 individuals with Schizophrenia, 1 in 100 with intellectual disability, and 1 in 8 patients with tetralogy of Fallot (a heart defect that is associated with “blue babies”), have 22q.
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