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Professionals

This section is being developed to give all professionals (medical, educational and others), more in-depth and scientific information about 22q Deletion Syndrome (22q DS).  We are collating papers and articles written by other professionals to give you a single place to come for the information you need. 

We welcome feedback from any professional as to what should be included in this section.

Introduction and overview of 22q Deletion Syndrome (and other names by which it may be referred)

This slide show from Donna McDonald-McGinn (Associate Director, Clinical Genetics, The Children’s Hospital of Philadelphia) gives a clear explanation of 22q Deletion Syndrome.  It’s quite long but well worth a look.  If you prefer to read, Donna and her colleague Elaine Zackai (Director, Clinical Genetics, The Children’s Hospital of Philadelphia), have written an article titled, “The History of the 22q11.2 Deletion”.

Donna and Elaine mention in their article that 22q Deletion Syndrome is also referred to by other names.  There is often confusion amongst parents when the various doctors and professionals, that their child is associated with, each refer to the condition by a different name.  In this article titled “The Name Game” by Professor Robert Shprintzen, he explains in-depth how the various names came about and what they mean.

22q DS has been cited by Fomin et al ("DiGeorge Syndrome - A Not So Rare Disease", 2010) as the commonest genetic deletion.

Due to the confusion over the name being expressed by families and professionals, The International 22q11.2 Deletion Syndrome Foundation are running a campaign to ask everybody to refer to any deletions on the 22nd chromosome to be referred to as 22q11.2 deletion syndrome.  As the newest charity supporting this condition, we decided to adopt the name right from the start and that by using it, we ensure that we don’t exclude any of the other lesser known associated syndromes.


The List of Possible Symptoms from the Velo-Cardio-Facial Syndrome Educational Foundation (VCFSEF)

Click here for the list of over 180 possible symptoms associated with 22q DS. 


After Diagnosis

Once a diagnosis of 22q11.2 Deletion Syndrome has been confirmed, there are several areas that should be checked.  Click here to read information from the Clinical Genetics Center - The Children's Hospital of Philadelphia.

For a more in-depth guide to managing patients with 22q11.2 Deletion Syndrome, an authoritative document entitled "Practical Guide For Managing Patients With 22q11.2 Deletion Syndrome" was accepted for publication by the US Journal of Pediatrics. You can read and download a copy here.

Professional Research Papers and Journal Articles

There are many professional papers and journal articles constantly being released about various aspects of 22q DS.  Click here to go to a search page to access articles published under the various names by which 22q DS is also known.


Information for Teachers / Educators

As a teacher, you may be teaching your first 22q DS child.  Although some of their learning and behaviour differences might be alleviated or addressed by adopting approaches that work for a child with Attention Deficit Disorder (ADD) or Autistic Spectrum Disorder (ASD) – including Asperger’s Syndrome; there is also specific information available for educating a 22q DS child.

Here is a PDF of a Powerpoint presentation titled "Educational Issues for Children with Chromosome 22q11.2 Deletion" by Cheryl Dultz.

Donna Cutler-Landsman is an educator well known in the world of 22q DS. Click here to view a Powerpoint presentation titled, "Educating Children with the 22q11 Deletion".  Although aimed at an American audience, this presentation includes the key information about how to help children with 22q DS in the school and classroom environment.   A second presentation by Donna titled, "Strategies for School Success for Students with 22q11" can be read by clicking here.

Donna has also written a book titled, "Educating Children with Velo-cardio-facial Syndrome" (ISBN-10: 1597561096, ISBN-13: 978-1597561099) that is available for purchase worldwide.


Click here for a printable PDF summarising 22q DS, what you need to know and what you can do. This PDF is found on the GEMSS - Genetics Education Materials for School Success site.
 

An Education Support Pack for Parents, Carers and Teachers of Children with 22q Deletion Syndrome was written by Lindsey Stedman following research carried out in the UK and personal experience of home educating a child with 22q DS.  Click here to view the pack.

Dr Edward Moss is a neuropsychologist who studies the behaviour and learning in children with 22q DS.  His Powerpoint presentation on the "Neuropsychological Profile of the 22q11.2 Deletion Syndrome" can be read by clicking this link.

Click here to search for professional articles on the psychology of children with 22q DS.  This link will take you to scientific papers on the learning differences of children with 22q DS.