22q Info and Resources
What is 22q?
…or tiny missing pieces, either.
22q deletion syndrome has had a number of different names over the years (DiGeorge Syndrome, velocardiofacial syndrome, Autosomal Dominant Opitz G, Shprintzen Syndrome among them); as each symptom was discovered over time, it was given a name. With the advancements in genetic reseach, it is now obvious that all of the symptoms were related to one another, and there is a common link.
There is a very small amount of genetic material missing in people with 22q deletion syndrome. The occurrence is now known to happen in 1 out of every 4,000 live births, and ten percent of the time, it’s present because one of the parents also has it and passes to a child.
The genetic material missing is from the long arm of chromosome 22, which is also called the q arm, hence the name 22q deletion syndrome.
What can you do about 22q?
Although there is no cure for 22q, most of the symptoms can be addressed and alleviated. However, it requires a pediatric team that understands the needs these children have. Here are a few resources for treatment options and information:
22qfamily.org
Nationwide Children’s Hospital
www.22q.org
www.22qcentral.com
www.22crew.org
www.friendsofquinn.com
www .ucdmc.ucdavis.edu/mindinstitute/videos/video_22qhtm
Symptoms of 22q
22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body.
These may include heart abnormalities, frequent recurrent infections caused by problems with the immune system, abnormal palate that can cause speech and eating difficulties.
Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones.
Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving. Children with this condition often need help changing and adapting their behaviors when responding to situations. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. Psychiatric illness sometimes develops in adolescence. Over 180 possible health problems have been associated with the deletion.