Our Current Research

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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Obesity in Adults with 22q11.2DS

Obesity means having too much body fat. Obesity increases someone’s risk of chronic diseases such as diabetes, cardiovascular diseases, and cancer. In 2005, we found that about 35% of individuals with 22q11.2DS were obese (body mass index; BMI>30) at some point in their life. This number was determined in 78 adults. We are now trying to find a more accurate number of obesity by studying more individuals. In addition, we hope to find the causes of obesity in 22q11.2DS, so that we can help patients avoid becoming obese in the first place. We also aim to find out if there are specific problems obesity can lead to in 22q11.2DS.

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

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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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