Questions on our linkage study:
Questions on 22q Deletion Syndrome:
If you have a question that is not answered here, please contact us and we will answer you personally.
Do all people with 22qDS share the same medical symptoms with the same severity? [ top ]
No. The physical findings associated with 22qDS can be quite subtle in some cases and quite severe in others. They vary from one person with 22qDS to another. Even within the same person, the range can be very broad, from mild effects in one system of the body (e.g. speech) to severe medical problems in another system (e.g. congenital heart defect).
What are the medical problems associated with 22qDS? [ top ]
The syndrome has multiple associated features including learning difficulties, speech or palate problems, characteristic but subtle facial features, congenital (present at birth) heart defects, other birth defects, hypocalcemia (low calcium levels in the
blood), and psychiatric illness such as schizophrenia. Some of these problems can arise later in life. For example, low calcium levels or psychiatric illness can begin in late teen years or adulthood.
What are the learning difficulties associated with 22qDS? [ top ]
Learning difficulties are very common in people with 22qDS, although they can be quite variable in type and severity. Some people with 22qDS only have minor difficulties or weaknesses in specific areas such as arithmetic. Other individuals with 22qDS may have more generalized difficulties in learning. Approximately 40% of people with 22qDS suffer from developmental delay or mental retardation.
How easy is it to diagnose someone with 22qDS? [ top ]
The first step is to see a doctor who is familiar with the syndrome. The doctor will take a history (ask about signs and symptoms) and perform a physical examination. If he or she suspects 22qDS, the doctor will order a special blood test. The blood sample is used to do specialized chromosomal testing called fluorescence in situ hybridization (FISH). This takes a specially trained technician and specialist (cytogenetist) but is now available in all major centres.
Does 22qDS ever go away? [ top ]
No. But, there are ways to manage or treat virtually every problem that is a part of the syndrome. The goal is to give the person with the condition the best treatment and care so that they can have the best quality of life possible.
What is the life expectancy of a person with this syndrome? [ top ]
We don't know at this point if people with 22qDS live longer than other people, the same, or may have shorter lives due to specific illnesses. This is one of our key areas of research. We have already observed that adults with 22qDS may have problems with some conditions (such as varicose veins or pilonidal sinus) at much younger ages than expected.
What are the goals of our 22qDS research? [ top ]
With the kind help of people with 22qDS and their families, we are trying to learn more about the syndrome. This includes trying to understand why individuals with this chromosomal abnormality may be at increased risk for psychiatric illnesses, why only certain people with 22qDS get congenital heart defects, why some get schizophrenia, how the learning difficulties vary from person to person and change over time. We are also very interested in finding the best ways to help treat the emotional and behavioural parts of the condition, and what medical conditions to watch out for in adults.
