A look back at the “22Q11 Conference 2025”, which brought together patients, parents, and leading syndrome specialists in a supportive and informative setting.
We produced several interview clips featuring the speakers, allowing them to explain the content of their presentations and share insights from their research.
Prof. Boris Chaumette - The puzzle of variable penetrance
Prof. Boris Chaumette, a psychiatrist from Paris, talks about the variability of symptoms and the diversity of disorders affecting people with 22q11. It’s important to better understand this variability to make predictions and answer patients’ questions. He explains current hypotheses that could help us be more precise and eventually intervene on the regulatory factors that affect the expression of the deletion.
Dr. Solveg Heide - Transition to adulthood
Dr. Solveg Heide, a clinical geneticist, studied the transition from pediatric to adult services. She explains that the key is to understand this transition as a process rather than an abrupt change. It’s important to anticipate it and put things in place to make the transition as smooth as possible for both patients and parents.
Dr. Sasja Duijff - After the 22q11 diagnosis : Supporting your child and your family
Dr. Sasja Duijff, a pediatric psychologist, focused on practical ways to support your children and your family. How can you be there for your child with 22q11, while also supporting your other children? The language we use, talking openly with all the children, spending one-on-one time with them, and maintaining routines can all help the whole family feel seen and supported.
Prof. Dr. Ralf Stücker - Orthopaedic care in 22q11 DS
Prof. Dr. Ralf Stücker reminds us that 90 to 100% of children with 22q11 have cervical spine anomalies, making this an important topic in orthopaedic care. These anomalies can range from very mild to more serious problems. This is why he recommends evaluating the cervical spine early on to identify potential issues. He also discusses the importance of monitoring for other orthopaedic complications, such as scoliosis, as it is much easier to treat when detected early.
Dr. Linda Campbell - After the 22q11 diagnosis : Supporting your child and your family
Dr. Linda Campbell, a clinical psychologist from Australia, talks about the diagnostic odyssey: all the stages that families go through during the often long process of getting a 22q11 diagnosis.
Prof. Doron Gothelf - Psychiatric issues and psychopharmacology
Prof. Doron Gothelf has been studying 22q11 for almost 30 years. He explains the wide range of psychiatric issues that can affect people with 22q11, including schizophrenia (which most people do not develop), anxiety disorders, ADHD and depression. He highlights the importance of understanding the links between these conditions, as early treatment of anxiety and ADHD may help reduce the risk of developing schizophrenia later on, while also preventing these issues from negatively affecting children's development.
Dr. Erik Boot - Somatic issues in adults
Dr. Erik Boot highlights the increased risk of physical health issues in adults with 22q11, including hypothyroidism, obesity and type 2 diabetes. He emphasizes the importance of regular screenings and blood tests every one to two years, as well as raising awareness from an early age to encourage a healthy lifestyle and prevent complications later in life.
Dr. Corrado Sandini - Sleep in 22q11.2 DS : What should we know and what should we do
Dr. Corrado Sandini, a lecturer at the University of Geneva, studies sleep in 22q11. He explains that sleep problems are more common in people with 22q11 and may contribute to difficulties with attention, emotional regulation and behaviour. Sleep apnoea can affect a significant proportion of children with 22q11, while fatigue and daytime sleepiness are also common. He highlights the importance of recognising these issues, although the exact causes and prevalence are still being studied.