The Dalglish Family 22q Clinic

Current Guidelines

• Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome (2023)
• Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome (2023)
• Prenatal screening and diagnostic considerations for 22q11.2 microdeletions (2023)

Knowledge translation means taking what we have learned through research and applying this knowledge to clinical practice. And we have done exactly that!

In March 2023, we published new clinical practice recommendations for the care of adults and children with 22q11.2 deletion syndrome (“22q”). These are based on the most up-to-date knowledge available, and on the very first guidelines for 22q published in 2011 (for children and adults) and 2015 (for adults), initiatives also led by Dr. Bassett. You can find the two new papers in the premier clinical genetics journal, Genetics in Medicine (see the first two links at top).

The 2023 publications are a result of major efforts across many years. Here are the numbers:

• 30 years of medical research reports on 22q were obtained and reviewed
• 2,318 articles about clinical care for 22q were selected and sent to experts in a variety of fields
• Experts from 4 continents were involved in writing the new recommendations
• Also, 1 brand new paper was added to the two main papers – the first ever recommendations on prenatal care for 22q
• Together, these 3 papers will have an impact on clinical care for patients and families worldwide
• Over 95% of patients at our Dalglish Family 22q Clinic participate in clinical research. And the 2023 guidelines for adults with 22q are packed with new knowledge, much of it based on our pioneering research − in partnership with our patients and families over many years.

This is a great example of how research and clinical care come full circle in knowledge translation – we learn from every patient we see, and the insights gained benefit people with 22q and their families − at our Clinic, and around the world.

UHN Team Members involved

5 Dalglish Family 22q Clinic team members

• Anne Bassett, MD, FRCPC – Psychiatrist and Director, Dalglish Family 22q Clinic (project leader and senior author), Senior Scientist, Toronto General Hospital Research Institute (TGHRI)
• Erik Boot, MD, PhD – Former Dalglish Fellow (project leader and senior author)
• Lisa Palmer, BEd, MSW, RSW – Registered Social Worker, Dalglish Family 22q Clinic
• Ania M. Fiksinski, PhD – Psychologist, former graduate student, Dalglish Family 22q Clinic
• Joanne C.Y. Loo, PhD – Education and Communication Officer, Dalglish Family 22q Clinic

7 UHN Specialists affiliated with the Dalglish Family 22q Clinic

• Danielle M. Andrade, MD, FRCPC – Neurologist, Adult Genetic Epilepsy Program, Krembil Clinician Investigator
• Anthony E. Lang, MD, FRCPC – Neurologist and Director, The Edmond J. Safra Program in Parkinson’s Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Senior Scientist, Krembil Research Institute
• Nikolai Gil D. Reyes, MD – Clinical Fellow, The Edmond J. Safra Program in Parkinson’s Disease and the Morton and Gloria Shulman Movement Disorders Clinic
• Erwin Oechslin, MD, FRCPC – Cardiologist, Toronto Adult Congenital Heart Disease Program
• Candice Silversides, MD, FRCPC – Cardiologist, Toronto Adult Congenital Heart Disease Program, Clinician Investigator, TGHRI
• Christine Cserti-Gazdewich MD, FRCPC – Hematologist and Transfusion Medicine Specialist, Clinician Investigator, TGHRI

1 UHN information specialist

• Ani Orchanian-Cheff, BA, MISt – Information Specialist, Library and Information Services