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22q.ca

22q & Friends
22q "on the move": Moving to the next stage Our 22q Transition Clinic for Teens to Adults Becoming an adult is a process that Afterwards, workshops are offered Research: movement sparks change in everyone's lives, on information about transitioning for including individuals with 22q11.2 patients and families.
Deletion Syndrome (22q). "How will Recent publications 22q symptoms affect my life as I After a delicious lunch and brief become an adult?" This is a common presentation by our staff from the question for many of our patients and 22q Clinic, the big moment arrives. Inside the Clinic their families.
Along with staff members of both 22q Clinics, everyone walks over to The Dalglish Family 22q Clinic, in Toronto General Hospital and enters collaboration with The SickKids Good The Dalglish Family 22q Clinic for 2 Go Transition Program and The the first time. Patients and their SickKids 22q Deletion Syndrome families are given a tour of the Clinic, Clinic, offered the first 22q Transition an opportunitiy to ask questions Clinical Genetics Research Clinic in October 2014. This full day and get comfortable with their new program gives individuals with 22q surroundings. The day finishes off information about adult care and with some final remarks, and patients shows them how to make a smooth have the chance to tell us what they transition from the Clinic at SickKids think of the day.
to ours at the Toronto General Our third 22q Transition Day was held on Tuesday, November 17th, Patients and their families start the 2015. With the success and positive day at The SickKids 22q Deletion feedback we've received, we look Syndrome Clinic with a warm forward to holding a 22q Transition welcome, snacks and refreshments. Clinic every 6 months, so look out for They are greeted by staff members more information in April 2016! and meet other patients and families making the same transition.

Hello and happy reading from all of us! Hello again from the The Dalglish have seen more adults with 22q than Family 22q Clinic and the Clinical any other single centre worldwide. Our Genetics Research Program! We hope collaborative research program works in you, your family and friends had a conjunction with the Centre for Addiction wonderful 2015. As we progress with and Mental Health, the University our research specializing in adults Health Network (Toronto General with 22q11.2 Deletion Syndrome Hospital, Toronto Western Hospital), (22q), we like to keep you up-to-date. and the Hospital for Sick Children, as As always, our goal is to continue to well as hospitals and clinics across the personally contact and hopefully see country. Our ambition is to continue Dalglish Family 22q Clinic each of you in 2016! This newsletter to learn more about 22q and other & The Clinical Genetics is intended to share news and genetic syndromes. Most importantly, updates as well as help to answer we want to learn more about how to some important questions about 22q. best manage the associated illnesses and conditions to help improve the long- ? Our program continues to see old term outcomes for people with 22q.
friends and newcomers for our research Most people with studies in 22q. At the moment, we are 22q do not inherit following about 280 adults with 22q and this condition from a related conditions across Canada. We parent. The genetic change happens as a new event. We do not yet understand Moving beyond Parkinson's Disease in 22q11.2 Deletion Syndrome: A study of movement disorders in adults An important goal stiffness, slowness in moving, and Every person (man of our research balance problems. Although most people studies is to with 22q will not develop Parkinson's has 22q has a 50% understand how disease, knowing this information is ("50-50") chance people with 22q important to encourage doctors to closely age. For example, monitor patients for new symptoms.
deletion on at every in recent years, we have found that Our clinical experience suggests that people with 22q adults with 22q are also experiencing have an increased other movement disorders more "syndrome" means risk of developing often than individuals without the 22q Parkinson's disease under the age of deletion. In addition, adults with 22q clinical features 50 years. In the general population, this who receive antipsychotic medication each of which can treatable disease usually affects people may be more vulnerable to side effects be recognizable but over the age of 65 years. Symptoms that can look like the symptoms of that can vary from of the disease include tremors Parkinson's disease ("parkinsonism"), person to person. (unintentional trembling or shaking), such as tremors, stiffness, and slowness

A study of movement disorders in adults in moving. However, other movement that may cause movement disorders, disorders have not been studied before such as antipsychotic medication.
in adults with 22q. If you have any questions or would like In the summer of 2015 we started a new more information about how to help different names: study to find out whether movement with our movement study, you may disorders are more common in adults contact our clinical research staff at: with 22q than the general population, and what might be causing these The Dalglish Family 22q Clinic at movement problems. This study will help Toronto General Hospital Velocardiofacial doctors give better information about 22q to patients and their families. It will also Phone:(416) 340-5145 help to identify unrecognized movement Email: [email protected] problems. This study may be important for the choice and dose of medications Clinic Awards 2014 - 2015 Please join us in congratulating the following Clinic members on their recognized achievements: 2014-2015 UHN Centre for Mental
Health Fellow Research Award
Dr. Erik Boot received this award in 2015. This acknowledges different doctors Fellows at UHN who have made outstanding contributions to their field.
specialized areas The Angelo DiGeorge Memorial Medal
they were all tied Dr. Anne Bassett received this piece missing on international award in 2014, which chromosome 22.
recognizes an outstanding contribution to our understanding and/or treatment of please visit our McLaughlin Early Career Investigator
Award - 2015
www.22q.ca
Dr. Erik Boot received this award recently to support his participation in the 2015 World Congress of Psychiatric Genetics.

Did you know.
? An inside look into The Dalglish Family 22q Clinic Most people with The Dalglish Family 22q Clinic Dr. Erik Boot:
Dalglish Fellow and Physician
a piece of genetic for people with intellectual disability
Dr. Anne Bassett:
that contains about Director & Psychiatrist
Dutch physician, Dr. Anne Bassett disability medicine. completed his PhD genes, and we do thesis on adults not yet know what all of these genes neurotransmitter is a psychiatrist has been the lead author or co-author Individuals with of multiple publications related to 22q. As the Dalglish Fellow, Dr. Boot thyroid problems. in the genetics of complex disorders. is pursuing 22q clinical and research She holds the Canada Research fellowship training at the Dalglish be under- or over- Chair in Schizophrenia Genetics Family 22q Clinic from September and Genomic Disorders. Dr. Bassett 2014 to August 2016.
thyroid testing can is also the Director of the Clinical help to identify a Genetics Research Program at Pam McFarlane:
CAMH and a Professor of Psychiatry so that effective at the University of Toronto. She is Pam McFarlane is treatment can be an international leader in the study a Social Worker in of 22q and is the Medical Director the Dalglish Family for the International 22q Foundation. Dr. Bassett has been providing Family 22q Clinic has over 25 years exemplary care to adults with 22q, is a private clinic, their families and caregivers for established by the working with the Dalglish Family. University Health However, our funds Network in several for continued care and research are Working with the diminishing. See Clinic team, Pam assists patients and the sidebar on the their families in examining challenges following page for and concerns and in helping to find how you can help! the best available resources. She also facilitates groups and provides counselling and support as requested. An inside look into The Dalglish Family 22q Clinic Lisa Palmer:
Patient Flow Coordinator
Radhika is likely the of Arts degree in first person you will Psychology in 2010 encounter when you come to the Clinic. She co-ordinates all appointments and ensures that Master of Social Work degree from The most important the University of Toronto in 2015. available. Please Working with the Clinic team, Lisa feel free to contact her at the Clinic's assists patients and their families in main number (416) 340-5145 if you participation in our examining challenges and concerns have any questions or concerns research studies.
and in helping to find the best available regarding your appointments. resources. She provides education Without your support to families and other professionals Research and Administrative Staff we could not hope and assists in facilitating groups and to make advances providing counselling and support Gladys Wong: Coordinator
as requested. She also continues to perform clinical research tasks and Fiona Fu, Natalie Kwok, Petra Buijs:
breakthroughs for develop her own research to help our Research Analysts
patients with 22q. Greg Costain: Genetics Resident
Monetary donations Samantha Cooper:
Registered Dietitian
Lily Van, Lisa Liang, Sarah Voll:
appreciated. They research and our Dietitian at the Joanne Loo: Patient and Family
clinic can continue Educational tool Developer
to help us better Our research and administrative collaboratively with staff have provided essential support To donate online, patients and their services over the years. Their work visit our website: families to create has ensured that we have a functional www.22q.ca
nutrition plans that website, presence of social media and and click "Donate" fit their needs and that our research efforts continue to run lifestyle. In addition to one-to-one patient care, Samantha is involved with group facilitation and patient and caregiver education as requested.
The Clinical Genetics Research Programat the Centre for Addictions and Mental Health (CAMH) Many of our Dalglish Family 22q Clinic team also have a role at CAMH. Together we are all working on research that will help us understand 22q and related conditions, like heart defects, schizophrenia and learning disabilities.
Toronto, ON
Sarah Voll
Undergraduate Student Dr. Anne Bassett
Principal investigator The Dalglish Family 22q Clinic and the Clinical Genetics Dr. Erik Boot
Lisa Palmer
Dr. Eva Chow
Research Program Research psychiatrist international group Gladys Wong
Saint John, NB
of scientists and Part-time Post-Doctoral clinicians working to better understand Research assistant Greg Costain
working with many Genetics Resident other international Tracy Heung
leaders in the field - some are listed on Research assistant Natalie Kwok
Lisa Liang
published the first clinical guidelines Research funding for adult patients We continue to submit several research Frederick Banting and Charles Best
with 22q, which will grant applications every year, to help Canada Graduate Scholarship (CIHR)
help doctors and support our research studies of 22q and Three year Doctoral Award 2015-2018 other health care several other related conditions. We (to Chelsea Lowther) professionals all have received funding from: over the world to Brain Canada - Studentship A ward
provide the best National Institute of Mental Health
and Career Development Supplement
care for individuals Four-year international collaborative Training award 2013-2015 (to Nancy operating grant, 2013-2017 Physicians' Services Incorporated
Frederick Banting and Charles Best
Canada Graduate Scholarship (CIHR)
One-year operating grant, 2015 Three year Doctoral Award 2011-2014 (to Nancy Butcher) Canada-Latin America and the
Caribbean Research Exchange
McLaughlin Centre Accelerator Grant
Grants (LACREG)
One-year operating grant, 2015 One-year operating grant, 2015 We are very grateful to these agencies for their research support! Collaborating doctors & researchers There are many collaborating doctors and researchers who work with us locally and internationally on 22q and related research. They include: Dr. Candice Silversides Christian Marshall, PhD Dr. Thérèse van
Adult Cardiologist, Stephen Scherer, PhD
thank you to the Maastricht University, Dr. Erwin Oechslin
Adult Cardiologist, recently been part Dr. Lili-Naz Hazrati &
McGinn, MSc, CGC
Dr. Tim-Rasmus Kiehl
Dr. Hanna Faghfoury & Director, 22q Clinic,
Neuropathologists, Dr. Chantal Morel
Children's Hospital of Medical Geneticists, Philadelphia (CHOP) Dr. Pamela Forsythe
Dr. Susan George
Dr. Wendy Meschino
Endocrinologist, Agnes Lew
Dr. Alan Fung
Kathleen Hodgkinson,
Dr. Sarah Dyack
Medical Geneticist, Dr. Robert Jay
Dr. Linda Brzustowicz
Charlottetown, PEI Dr. Danielle Andrade
Rutgers University, Dr. Jacob Vorstman
Child Psychiatrist, Utrecht, the Netherlands Dr. Brian Chung
Dr. Anthony Lang
Medical Geneticist, Ann Swillen, PhD
Child psychologist, Dr. Gabriela Repetto
Dr. Connie Marras
Medical Geneticist, Bernice Morrow, PhD
Geneticist, New York And many more!
? On June 7th, 2015, The Dalglish Family For those parents and caregivers unable 22q Clinic at Toronto General Hospital to attend in person, an on-line weblink is and the Good to Go Transition program at offered to give access to the group from The Hospital for Sick Children co-hosted home.
the 3rd annual 22q at the Zoo event. The focus of the day was for individuals The next peer support group will be held with 22q, their families and Clinic staff to on March 31st, please contact our Clinic socialize, network and raise awareness at (416) 340-5145 for more information! are born with this of 22q in the community. Participants microdeletion on also had the chance to go on walks chromosome 22.
through the zoo, join in fun activities with 22q Family Conference their friends and families and win great On November 7th, 2015, the 2nd annual 22q Family Conference was held at If you couldn't attend this year, you can the Daniels Hollywood Theatre at The still look forward to the next event. 22q at Hospital for Sick Children in Toronto. the Zoo is held each year as part of the This conference gave individuals with of 22q in adults. 22q at the Zoo Worldwide Awareness 22q and their families the chance to learn About 6 in every Day, organized by The International 22q more about the condition and meet other 10 adults with 22q Deletion Syndrome Foundation every families sharing their same experiences. have a treatable year. Look for more information in April Information sessions for parents, teens and young adults were offered on topics The characteristics of 22q occur along Peer Support Groups • Disclosure of Diagnosis a spectrum. Some • Impact on Siblings individuals have The Dalglish Family 22q Clinic holds • Mental Health Needs of Teens peer support groups occasionally for • Navigating the Education System individuals with 22q and their parents • Opportunity to Share Strategies or caregivers. We facilitate two groups, which each run for about 90 minutes: Participants also had the chance to enjoy fun activities, and catch a special A group for parents or caregivers – an appearance by hip-hop artist Luca opportunity to talk to other parents about "Lazylegz" Patuelli. Genetic testing - a concerns, challenges, and successes. simple blood test Thanks to the hard work of families, - is the only way A group for our adult patients – a chance friends, staff and volunteers, this unique to confirm a 22q for our patients to meet each other, event will continue to be held annually. participate in some fun exercises and Look for more information about the next to discuss topical subjects with staff Family Conference in Fall 2016! Get moving! Tips for being physically active A lot of people know that being 3. Get a family member or friend to join physically active is a healthy thing to you in your activity. People are more do, but often it is hard to keep up with likely to stick with an activity if they have this lifestyle change. Here are some some support.
quick tips for getting more active, and 4. Keep track of your physical activity; use a journal, a pedometer (to measure 1. The recommended amount of your daily steps), or a fitness tracker app physical activity is 30 minutes per day. for your phone or wrist. Try to beat your Did you know that it can be split up into level of activity each week! We want to create three 10 minute bits? Splitting up your newsletters that activity can make it easier to fit into your 5. Set goals to motivate yourself to do may interest you.
more activities. Make them specific and realistic. For example: I will do 15 What information 2. People are more likely to stick to a minutes of walking daily, right after lunch.
physical activity routine if it is an activity would you like to that they enjoy. You don't have to choose the gym. Dancing, gardening, swimming, and running with your dog all count as activity.
Perhaps you have questions for us If you're moving, we'd like to hear about it! Maybe you have a Moving to a new home is a big change, How can we help?
comment or story whether you are moving across the • We can help make sure you are to tell us. country or across the street. Here is some quick information about how we connected with the appropriate resources and supports in your new area (e.g. We want to hear ODSP, DSO, Community Living, etc.) from you so that Why tell us?
• We may also be able to make referrals • We want to ensure you have everything to local specialists who understand 22q. you need ready for this big change.
more helpful and What we need from you:
enjoyable to read. • We want to be able to contact you, if • New telephone numbers; yours and necessary, if there are changes that your emergency contacts.
We invite you to could be important to your health care. • New mailing address.
• We want to keep you to-to-date with news about 22q, new groups, research • New email address.
comments to us at (416) 340-5004.
We are excited to announce important Practical guidelines for managing
publications on 22q since our last adults with 22q11.2 deletion
We've changed newsletter. These would not be possible syndrome.
without your generous contributions to Fung WLA, Butcher NJ, Costain G, our research. You are helping people Andrade DM, Boot E, Chow EWC, Chung Our old name, "The with 22q worldwide! B, Cytrynbaum C, Faghfoury H, Fishman Dalglish Family Hearts L, García-Miñaúr r S, George SR, Lang and Minds Clinic" has Some of our recent publications include: AE, Repetto G, Shugar A, Silversides C, been given a fresh Swillen A, van Amelsvoort T, McDonald- Response to clozapine in a clinically McGinn DM, Bassett AS and the
identifiable subtype of schizophrenia: International 22q11.2DS Consortium:
22q11.2 deletions mediate side effect Genetics in Medicine 17:599-609, 2015
risk and dosage.
The Dalglish Family
Butcher NJ, Fung WLA, Fitzpatrick L, 22q Clinic
Guna A, Andrade D, Lang A, Chow EWC, This review is a practice guideline for Bassett AS: British Journal of Psychiatry providing health care to adults with 22q. We hope that this 206:484-491, 2015 (doi:10.1192/bjp. An international panel of researchers name will help more collaborated to contribute to this paper, people recognize our work with adults with with topics covering the management of This research explored how individuals psychiatric and medical conditions, as with 22q and schizophrenia respond to the well as how to identify these conditions medication clozapine, and how it differs Give us a call or send in adults with 22q.
from individuals with schizophrenia who us an email to tell us do not have 22q. We found that a lower what you think of the Prevalence of hypocalcaemia and its
dose of clozapine and using preventative associated features in 22q11.2
measures can help lower the risks of deletion syndrome
side effects for individuals with 22q.
Cheung ENM, George SR, Costain GA, Andrade DM, Chow EWC, Silversides Movement disorders and other motor CK, Bassett AS: Clinical Endocrinology
abnormalities in adults with 22q11.2 81:190-196, 2014 (doi: 10.1111/
Boot E, Butcher NJ, van Amelsvoort TAMJ, Lang AE, Marras C, Pondal M, This research explored how common Andrade DM, Fung WLA, Bassett AS: low calcium levels are in individuals with American Journal of Medical Genetics 22q, and what the possible causes are. Part A 167:639-645, 2015 (doi:10.1002/ We found that in addition to changes in parathyroid function, low thyroid function may also play a role in causing low This research looked at five examples of calcium levels. Also, individuals with adults with 22q who also had movement 22q can have low levels of magnesium, disorders, which could range from which can further lower calcium. Dietary balance problems to shakiness. Through intake such as pop and alcohol were these examples, we were able to suggest also found to lower calcium levels, and common symptoms and possible causes reducing intake of these drinks is an of these disorders, which can help other important preventative strategy.
health care professionals to provide better care for individuals with 22q.
Each year we participate in several 22q11.2 Deletion Syndrome
presentations on 22q and other International Meeting
related conditions. Some of our recent Mallorca, Spain published a number presentations relating to 22q include: addressing different University of Hong Kong Grand Rounds At this biennial international 22q meeting,
Dr. Bassett presented on antipsychotic Some titles include: treatment with clozapine in adults with 22q, and how to use a model of personalized At the University of Hong Kong Grand "Could congential care with patients.
Rounds, Dr. Bassett presented the latest heart defects be research on 22q and the genetics of related to a genetic 22q University Online Webinar
congenital cardiac disease.
Megan Morrison, our previous dietitian, "Could 72nd Annual Meeting & Pre-Conference produced a webinar for the Dempster schizophrenia be
Symposia of the American Cleft Palate- Family Foundation about the nutritional related to a genetic
implications for individuals with 22q. This video is available online at http://22q.ca/ "Could calcium and thyroid problems be Alongside Donna McDonald-McGinn, Dr. related to a genetic Bassett presented the results of the practice guidelines for managing patients with 22q 22q Workshop for York Support
and how this relates to the assessment Services Network
"Pamphlet and treatment of palatal abnormalities for health Society of Biological Psychiatry 70th Dr. Boot and our Clinic social worker, "Information for
Annual Scientific Meeting
Pam MacFarlane, presented a workshop Educators and to members of the York Support Services School Resource Network about 22q, its features and how to best support individuals living with this Dr. Bassett presented at this annual meeting condition.
"Dalglish Family the results of a study which investigating Hearts and the link between 22q deletions and risk Minds Clinic for for schizophrenia during pregnancy. 2nd Annual 22q Family Conference
Nancy Butcher also presented her results Toronto, Ontario on use of clozapine in schizophrenia for November 7, 2015 individuals with 22q.
visit our website: Dr. Boot and our Clinic social worker, www.22q.ca
Lisa Palmer, presented two talks about and click on "Our transitioning to adult care for individuals with 22q and their families, as well as developing advocacy skills.
65th Annual Conference of the
Ontario Association on
Canadian Psychiatric Association
Developmental Disabilities 23rd
Vancouver, British Columbia Annual Research Day
October 1-3, 2015 Dr. Boot presented at this national conference for psychiatrists on the Dr. Boot presented at this annual topic of genetics and its use in the field research day the preliminary results of a of clinical psychiatry, using examples study looking at how well individuals with from his experience with 22q and other 22q respond to supplement treatment Clinic Facebook genetic disorders.
for hypocalcemia.
In 2015, we began using our Facebook page to provide more events, Clinic updates, Here are some websites that we hope news and healthy tips you will find helpful about 22q and for our patients and Schizophrenia Society of Canada:
Information for patients and families affected by schizophrenia, including We invite you to treatment, daily living and advocacy.
"Like" our Facebook page to receive these The Dalglish Family
updates and send 22q Clinic:
Canadian Congenital Heart Network:
your comments and The learning centre contains information Provides information about our Clinic, and resources for adults who were born including specialized services to help with a heart defect.
patients and families.
ONLINE RESOURCES: Information includes: • Quick facts about 22q • Directions to our clinic For those transitioning to adult care.
• Referral information • Further reading for physicians I Heart Change:
Offers information for youths with congenital heart disease about making the transition to adult care.
International 22q11.2 Deletion
Syndrome Foundation:
Focuses on bringing awareness and support to individuals affected with 22q and their families.
Susan Gary Heather Sadly, over the decades, we have lost many members of the 22q family. They will never be forgotten and remain close to our hearts. Even their research contributions live on, and through this knowledge they continue to help others with 22q. They are included in all of our studies and their generosity will bring further advancements to the care of individuals with 22q throughout the decades They are true angels! Giving back to the 22q CommunityOver the years, with the help of our patients, families and researchers around the world, we have come far in learning about how to optimize care for individuals with 22q. Hundreds of patients and families have already participated by donating their time and blood sample. We also have very precious tissue donations from some of our patients who have passed away, that are helping us to understand more about all stages of the life cycle of 22q. All of our advances rely on the continued contributions of the amazing patients, families and caregivers who we see at our Clinic. When our patients and families ask, "How can I help support other people with 22q?", the answer is to get involved with research. We encourage patients and families to ask us what new research we are working on. We are happy to explain any of our ongoing and new studies and collaborations. Every person with 22q can help! A special group are those without major health issues who are doing well. These individuals can help us understand how well people with 22q can do, and can shed light on the secrets of good health in 22q. We wholeheartedly appreciate everyone who has already given to the 22q community by participating in research. This is a gift that is improving healthcare for people with 22q - today, and will do so for many years to come. We are grateful to everyone who has donated their time for our 22q studies, and we hope that you will join us in our newest research efforts. All of the progress we are making is because of you! As our studies progress, we need to maintain an up-to-date and accurate picture of your health status. We may contact you for updates on your family history and health status in the near future. Ideally, we like to see everyone with 22q once per year. This will also help you stay up-to-date on information about 22q.
The Dalglish Family 22q Clinic
Clinical Genetics Research Program
Toronto General Hospital Centre for Addiction and Mental Health
8 NU (Norman Urquhart), Room 802 33 Russell Street, Main Building, 1st Floor 200 Elizabeth Street Toronto, ON M5S 2S1 Toronto, Ontario M5G 2C4 Phone: (416) 535-8501 x 32731 Phone: (416) 340-5145 Fax: (416) 535-7199 Fax: (416) 340-5004 Please call Gladys for Please call Radhika for an appointment an appointment if we haven't if we haven't seen you in a while! seen you in a while!

Source: http://22q.ca/perch/resources/22qnewsletter2016.pdf