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SickKids

22q11 Deletion Syndrome Clinic

Location:
525 University Ave, Suite 940, 9th Floor, Toronto, ON
Phone:
416-813-6390
Fax:
416-813-5345

About the Clinic

The 22q11 Deletion syndrome (22q11DS) clinic at SickKids was established in 2003 within the Division of Clinical & Metabolic Genetics. Our goal is to provide and promote coordinated, interdisciplinary care and support to children with 22q11DS and their families. Children with 22q11DS can present with a variety of health and developmental symptoms that can involve their heart, immune function, endocrine function, speech, learning and behavior in addition other medical issues. Each child with 22q11DS will have a unique set of needs. Our clinic provides our patients access to an interdisciplinary team of specialists from across SickKids with expertise in 22q11DS. 

Who We Are 

We are a team of health care providers from across SickKids with special interest and expertise in 22q11 DS.  Our team includes professionals from Genetics, Cardiology, Immunology, Endocrinology, Speech and Language Pathology, Otolaryngology (ENT), Psychiatry, Plastic Surgery and Orthopaedics. We collaborate to develop best practices in caring for children and adolescents with 22q11 DS. 

What We Do 

Patients referred to our clinic are seen by the core genetics team (a genetic counsellor and pediatric genetics physician) for an initial comprehensive assessment.  The care plan is tailored to each individual’s unique needs and referrals to appropriate specialists are made as needed. Patients are seen at designated intervals from the time of diagnosis to 18 years of age.  Our team provides support, education and guidance to families regarding 22q11DS-related issues.  When the time comes for a patient to transition to adult care, we offer a formal transition program in partnership with the Dalglish Family 22q Clinic at the University Health Network (a clinic for adults with 22q11DS) 

Our mission: 

  • To be internationally and nationally recognized as a centre of excellence for clinical care, research and community education with respect to the 22q11 deletion syndrome paediatric population. 

Our goals: 

  • To provide coordinated, timely access to health care and community services for children with 22q11 deletion syndrome. 
  • To establish evidence-based clinical care guidelines for children with 22q11 deletion syndrome. 
  • To educate community health care providers about the needs and issues of the 22q11 deletion syndrome population. 
  • To identify adequate resources for individuals with 22q11 deletion syndrome transitioning to adulthood 
  • To initiate and participate in clinical and laboratory research initiatives that will further our understanding and drive evidence based medical follow up interventions for this group of patients. 

Meet the team

Referring a patient

Any child or adolescent with a confirmed diagnosis of 22q DS may be referred to our clinic. All referrals must be made by a physician or nurse practitioner and include documentation of the 22q11DS diagnosis as well as all relevant health records. Please note, we do not accept referrals for patients with a suspected diagnosis.

How to refer a patient

Research

As part of an academic hospital, our team members are actively involved in clinical and laboratory research.

  • Internet Safety Issues for Adolescents and Adults with Intellectual Disabilities. Buijs PCM, Boot E, Shugar A, Fung WLA, Bassett AS. J Appl Res Intellect Disabil. 2017 Mar;30(2):416-418. doi: 10.1111/jar.12250. Epub 2016 Feb 23. PMID: 26914835 
  • Practical guidelines for managing adults with 22q11.2 deletion syndrome. Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8 
  • An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome. Shugar AL, Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, Fishman L. Am J Med Genet A. 2015 Jul;167(7):1560-4. doi: 10.1002/ajmg.a.37064. Epub 2015 May 5 
  • 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. Martin N, Mikhaelian M, Cytrynbaum C, Shuman C, Chitayat DA, Weksberg R, Bassett AS. J Genet Couns. 2012 Dec;21(6):825-34. doi: 10.1007/s10897-012-9517-7. Epub 2012 Jul 26 
  • Impact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate Michael Bezuhly 1, Simone Fischbach, Paula Klaiman, David M Fisher. Plast Reconstr Surg 2012 Mar;129(3):502e-510e.  doi: 10.1097/PRS.0b013e3182402e52. 
  • Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series. Stachon AC, De Souza C. J Can Acad Child Adolesc Psychiatry. 2011 Nov;20(4):305-10. 
  • Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome. Al-Sukaiti N, Reid B, Lavi S, Al-Zaharani D, Atkinson A, Roifman CM, Grunebaum E.J Allergy Clin Immunol. 2010 Oct;126(4):868-9. doi: 10.1016/j.jaci.2010.07.018.PMID: 20810153 No abstract available. 
  • Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. de Almeida JR, James AL, Papsin BC, Weksburg R, Clark H, Blaser S. Laryngoscope. 2009 Aug;119(8):1495-500. doi: 10.1002/lary.20281. 
  •  Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Am J Med Genet A. 2007 Dec 15;143A(24):2924-30. doi: 10.1002/ajmg.a.32101 
  •  Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Biol Psychiatry. 2007 May 15;61(10):1135-40. doi: 10.1016/j.biopsych.2006.07.038. Epub 2007 Jan 9. 
  •  Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS. Hum Genet. 2007 Feb;120(6):837-45. doi: 10.1007/s00439-006-0242-x. Epub 2006 Oct 7. 
  •  Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E.Horm Res. 2007;67(3):117-22. doi: 10.1159/000096421. Epub 2006 Oct 19.PMID: 17057408 
  •  Clinical features of 78 adults with 22q11 Deletion Syndrome. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Am J Med Genet A. 2005 Nov 1;138(4):307-13. doi: 10.1002/ajmg.a.30984. 
  •  The schizophrenia phenotype in 22q11 deletion syndrome. Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. Am J Psychiatry. 2003 Sep;160(9):1580-6. doi: 10.1176/appi.ajp.160.9.1580. 
  •  Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Am J Med Genet. 2001 May 8;105(4):354-62. doi: 10.1002/ajmg.1359 
  •  Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia. Lazier K, Chow EW, AbdelMalik P, Scutt LE, Weksberg R, Bassett AS. Schizophr Res. 2001 Jul 1;50(3):177-80. doi: 10.1016/s0920-9964(00)00159-6. 
  • Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Am J Med Genet. 2001 May 8;105(4):354-62. doi: 10.1002/ajmg.1359. 
  •  Phenotype of adults with the 22q11 deletion syndrome: A review. Cohen E, Chow EW, Weksberg R, Bassett AS. Am J Med Genet. 1999 Oct 8;86(4):359-65. doi: 10.1002/(sici)1096-8628(19991008)86:4<359::aid-ajmg10>3.0.co;2-v. 
  • Microdeletion 22q11.2: clinical data and deletion size. Kerstjens-Frederikse WS, Kurahashi H, Driscoll DA, Budarf ML, Emanuel BS, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, Teshima I.J Med Genet. 1999 Sep;36(9):721-3.  
  •  Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Chow EW, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Biol Psychiatry. 1999 Nov 15;46(10):1436-42. doi: 10.1016/s0006-3223(99)00150-x. 
  • 22q11 deletion syndrome in adults with schizophrenia. Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. Am J Med Genet. 1998 Jul 10;81(4):328-37. 
  • Velocardiofacial syndrome presenting as hypocalcemia in early adolescence. Sykes KS, Bachrach LK, Siegel-Bartelt J, Ipp M, Kooh SW, Cytrynbaum C. Arch Pediatr Adolesc Med. 1997 Jul;151(7):745-7. doi: 10.1001/archpedi.1997.02170440107021. 

Resources for patients and families

AboutKidsHealth

22q11 deletion syndrome

22q11 deletion syndrome (22q11DS) is a genetic condition. Learn what causes it, how it's diagnosed and treated.

Genetics

Learn about the genetic causes of 22q11 deletion syndrome, risk factors and confirming diagnosis.

Medical features

Learn about some of the more common medical features of 22q11DS.

Bone health

Find out how calcium and vitamin D help build strong bones.

Contact us

Community members and health care providers may reach out to the Clinic Coordinator, Andrea Shugar or the Clinic Administrator, Rozmin Visram as follows:

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