Our Current Research

Medical multimorbidity in adults with 22q11.2DS

Higher multimorbidity and healthcare utilization has been observed among populations of individuals with complex, multisystem conditions such as Down syndrome and Fragile X syndrome, compared to population controls. Despite these data, little is known about medical multimorbidity in 22q11.2 deletion syndrome. We are investigating the number and nature of treated multimorbid conditions in adults with 22q11.2DS and comparing this to Canadian population data.

Investiagotr/study doctors:
Principal investigator: Anne Bassett
Study Coordinators: Sarah Malecki (Voll), Spencer Van Mil, Justin Graffi

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The DNA detective: Understanding family background and neuropsychiatric variability in 22q

Our newest addition to the team, Clinical Psychologist Ania Fiksinski, is exploring an aspect of 22q11.2 deletion syndrome that’s never been researched before. Providing better medical care to our 22q community means finding the roots of a problem before it gets bigger. This is what we are trying to investigate. We want to understand what genetic and family factors may protect our patients from some of the features typically associated with 22q, and how family members manage tough times when caring for an individual.

Participants will spend time with Ania and/or our research assistants, Alexandra Therond or Tracy Heung, with assessments related to learning and memory. We want to know how our patients and their families learn, whether they have relative strengths and weaknesses in certain areas, and how memory may be processed differently in 22q. They will also fill out questionnaires that explore how family members cope with challenges that can arise from being a caregiver.

We also ask participants to provide a blood sample - if we don’t already have one from a previous appointment. Though only a small sample, the DNA (genetic material found in every cell) collected offers the chance to help us understand several mysteries. A person’s genetic background, outside of the 22q deletion, can help explain the likelihood that someone develops anxiety, or is born with a heart defect.

As with every research study we do, we take time to sit with our participants and answer any questions they might have. For example, we would explain that this study is completely confidential and private. No identifying information about individual people is ever presented. Every person who participates is giving a priceless gift - contributing to the knowledge about 22q that will help others with this condition and their families, now and for future generations.

Since we want to encourage participants to be part of our study, all costs related to travel and lunch will be covered. We will make sure that the time spent with us is as comfortable as possible.

Working with so many people with 22q over the years, we understand that each person is unique. We are still searching for the best way to help predict what lies ahead for our patients with 22q. Our ongoing 22q study may help us to predict medical problems and perhaps discover effective management sooner, giving our patients a better outcome and a brighter future. We would like to take this opportunity to say a big thank you to each and every one of our participants!

The study started in January 2017, and we will continue to ask families to participate over the coming years. If you have any questions or would like more information about how to help with ths study, you may contact us at the Clinic.

The Dalglish Family 22q Clinic at Toronto General Hospital
Phone: (416) 340-5145
Email: 22q@uhn.ca

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Study Coordinator: Ania Fiksinski, MSc.

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Moving beyond Parkinson’s Disease in 22q11.2 deletion syndrome: A study on movement disorders in adults

An important goal of our research studies is to understand how people with 22q11.2DS age. For example, in recent years, we have found that people with 22q11.2DS have an increased risk of developing Parkinson’s disease under the age of 50 years. In the general population, this treatable disease usually affects people over the age of 65 years. Symptoms of the disease include tremors (unintentional trembling or shaking), stiffness, slowness in moving, and balance problems. Although most people with 22q11.2DS will not develop Parkinson’s disease, knowing this information is important to encourage doctors to closely monitor patients for new symptoms.

Our clinical experience suggests that adults with 22q11.2DS are also experiencing other movement disorders more often than other individuals without the 22q11.2DS deletion. In addition, adults with 22q11.2DS who receive antipsychotic medication may be more vulnerable to side effects that can look like the symptoms of Parkinson’s disease (“parkinsonism”), such as tremors, stiffness, and slowness in moving. However, other movement disorders have not been studied before in adults with 22q11.2DS.

In the summer of 2015 we started a new study to find out whether movement disorders are more common in adults with 22q11.2DS than the general population, and what might be causing these movement problems. This study will help doctors give better information about 22q11.2DS to patients and their families. It will also help to identify unrecognized movement problems. This study may be important for the choice and dose of medications that may cause movement disorders, such as antipsychotic medication.

If you have any questions or would like more information about how to help with our movement study, you may contact our clinical research staff at:

The Dalglish Family 22q Clinic at Toronto General Hospital
Phone: (416) 340-5145
Email: 22q@uhn.ca

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Study Coordinator: Dr. Erik Boot

movement study image

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Identifying and characterizing 22q11 deletion syndrome (22qDS) in adults with and without congenital heart defects

A large proportion of individuals with 22q11.2DS had significant congenital heart defects (CHD). The goal of this ongoing project is to look for genetic links to problems in early development like congenital heart disease. The study involves examination of physical features and later onset conditions such as anxiety or schizophrenia that may be associated with genetic factors. As the cause of most congenital heart disease is unknown, an association of a chromosomal rearrangement or other genetic change such as a chromosome 22 deletion may help to identify genes responsible for congenital heart disease and other important conditions.

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Co-Investigators: Drs. Candice Silversides, Eva Chow, W. L. Alan Fung, Janice Husted, Danielle Andrade
Other Investigators: Drs. Erwin Oechslin, Susan George, Tony Lang, Hanna Faghfoury, Lili Hazrati, Steve Scherer, Christian Marshall

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Clinical Features in adults with 22q11.2DS – An update

In 2005, we reported on the clinical features of 78 adults with 22q11.2DS. Some of the more common features included intellectual disability, psychiatric problems, seizures, hormone-related problems, and cardiovascular abnormalities. Over ten years have passed, and we have now served more than 270 individuals with 22q11.2DS. By studying medical information of these individuals we will be able to have a more precise estimate of the proportion of patients with specific features. We are also trying to find out if there are certain mental and physical features that are common to aging adults with 22q11.2DS.

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Study Coordinators: Sarah Voll, Dr. Erik Boot

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Cognitive behavioural therapy in young adults with 22q11.2 deletion syndrome and an anxiety disorder: a pilot study.

Cognitive Behavioural Therapy (CBT) has been found to be an effective treatment for anxiety disorders. However, it is unknown if CBT is practicable and effective in young adults with 22q11.2DS.

This research study is a pilot study (‘pre-study’). Two young adults with 22q11.2DS and diagnosed with an anxiety disorder will receive CBT, on a weekly basis for 9-13 weeks, in addition to their regular pharmacological and other medical treatment. Two other young adults with 22q11.2DS and an anxiety disorder, will receive their regular pharmacological and other medical treatment, but no psychological treatment in this period. At the start of the study, after about 13 weeks, and again after about 26 weeks after the start of the study, the participants will be asked to complete a questionnaire about anxiety and quality of life.

The purpose of this study is to see if CBT is doable in young adults with 22q11.2DS. The results of this study will be used to optimize current CBT protocols to the needs of people with 22q11.2DS.

Investigator/Study Doctor:
Principal Investigator: Dr. Anne Bassett
Investigator: Petra Buijs
Co-Investigators: Dr. David Gold (Supervising Psychologist), Dr. Erik Boot

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Neurocognitive profile comparison of 22q11.2 deletion syndrome adults with and without psychosis

Schizophrenia is a complex psychiatric illness characterized by symptoms such as hallucinations, delusions and cognitive impairments. Approximately 25-30% of the adults with 22q11.2 deletion syndrome (22q11.2DS) will develop schizophrenia, making it the single greatest genetic risk factor of schizophrenia. However, although early treatment interventions in schizophrenia may improve the outcome, we are not able to determine which individuals will develop this disabling disease.

Our study aims to assess and compare cognitive functioning in 100 adults with 22q11.2DS with and without schizophrenia. Neurocognitive function is measured with the use of a comprehensive battery of 18 neurocognitive tests. Understanding neurocognitive differences between these two groups may provide valuable markers for predicting schizophrenia.

Principle Investigator: Dr Anne Bassett
Study Coordinators: YunJoo Lee, Nancy Butcher, Dr Erik Boot, Fiona Fu

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Personalized medical information card for adults with 22q11.2DS

Many adults with 22q11.2DS have multiple health concerns and long lists of medications. Some of them also have intellectual disabilities and are therefore unable to adequately explain their health conditions. If these patients need medical help urgently, or if they encounter medical professionals who are not familiar with 22q11.2DS, they (or their family members) have a hard time providing crucial information to those who try to help. To solve this problem, our Clinic has been offering personalized medical information cards for patients. These are wallet-sized, laminated paper cards that show emergency contact information on one side and personal medical information on the other. Since the beginning of this quality improvement project in late-2014, we have issued medical information cards to over 25 patients. While we continue to generate cards for additional patients, we are also assessing the usefulness of the card among the recipients. If you are a patient at the Dalglish Clinic and would like to receive a card, please contact our clinic.

The Dalglish Family 22q Clinic at Toronto General Hospital
Phone: (416) 340-5145
Email: 22q@uhn.ca

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Investigators: Joanne Loo, PhD; Dr. Erik Boot, Dr. Maria Corral

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