The Most Common Syndrome You’ve Never Heard Of: 22q

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PHILADELPHIA, Pa. (Ivanhoe Newswire) — It’s been called ‘the most common syndrome you’ve never heard of.’  22q deletion, also known as DiGeorge syndrome, can create lifelong physical and mental issues. This genetic condition is responsible for the missing part of the twenty second chromosome. But doctors can now diagnose 22q, meaning earlier intervention and a much better quality of life.

Jasmine, now 12, was born prematurely and had feeding problems as an infant. As she got older-developmental delays and scoliosis, as well as ADHD.

“Around eight months she was tested at CHOP: the Philadelphia Children’s Hospital and then they detected the 22q deletion.” Jasmine’s Mother, Veda Brown explained to Ivanhoe.

Jasmine received speech, occupational and physical therapy. But when 22q is not diagnosed early, parents may become frustrated.

“We have one patient here whose son actually saw 27 sub-specialists before coming up with unifying diagnosis at age five.” Donna M. McDonald-McGinn, MS, LCGC, Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania, Chief, Section of Genetic Counseling, Director of the 22q and You Center, Associate Director, Clinical Genetics Center at the Children’s Hospital of Philadelphia told Ivanhoe. (Read Full Interview)

The 22q missing gene can manifest in cleft palate, heart disorders, autism and more.

Dr. McDonald-McGinn continued, “with those genes missing, they send out a signal I want the heart to form a certain way; the thymus controlling immunity; the parathyroid gland which control calcium and the parathyroid hormone, and they really set things up to go in a certain direction.”

Brown explained, “She’s diagnosed with ADHD. And, so, she’s a busybody and I work with that.”

This devotion to Jasmine’s well-being is critical to her life success.

“I will work with her all the way through college and prepare her for life. I believe she’ll be able to go on her own. She’ll be able to drive a car, work a job, go to college because I’m investing in her and preparing her for that,” Brown stated.

If you’ve noticed any of the symptoms of 22q in your child, doctors recommend having your child tested with a simple blood test. Getting an accurate diagnosis could provide you not only peace of mind, but the early intervention techniques that can help your child.

Contributors to this news report include: Cyndy McGrath, Supervising Producer; Donna Parker, Field Producer; Kirk Manson, Videographer; Gabriella Battistiol, Assistant Producer; Roque Correa, Editor.

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MEDICAL BREAKTHROUGHS

RESEARCH SUMMARY

TOPIC:            THE MOST COMMON SYNDROME YOU’VE NEVER HEARD OF: 22Q

REPORT:       MB #4287

BACKGROUND:  DiGeorge syndrome, also known as 22q11.2, is a chromosomal disorder that results in poor development of numerous body organisms. The syndrome can cause a whole array of problems such as heart defects, poor immune system function, a cleft palate, and low levels of calcium in the blood. The name 22q is given because of the missing piece of the 22nd chromosome. The deletion occurs 1 in every 2,000 to 4,000 live births. The deletion is not hereditary and parents without the deletion are not at an increased risk. However, the parent does have a 50% chance of passing the condition to the offspring with every offspring.
(Sources: http://www.22q.org/about-22q/faqs/22q11-2-deletion/#4

http://22qfamilyfoundation.org/what-22q/22q-overview )

TREATMENT:  Diagnosing 22q11.2 can be hard because the condition affects each individual differently.  It may take a number of consultations before the 22q is correctly diagnosed. In addition the condition may be linked with other disorders. Physicians use genetic testing to diagnose the condition. This is usually done by drawing blood for a sample that is then sent to a clinical lab.  There is no exact “cure” for this condition, because the genetic makeup cannot be changed. Once the child’s medical and developmental problems are pinpointed, however, work can be done to take care of those issues so that the child can live a happy and healthy life.

(Source: http://www.chop.edu/conditions-diseases/chromosome-22q112-deletion)

ADDITIONAL TREATMENTS:  Since there are a number of complications associated with this condition, there are also a number of potential treatments. One treatment is calcium supplements for or hypoparathyroidism-associated hypocalcemia, and vitamin D supplementation may also be needed. There are also different types of surgery for cardiovascular conditions, cleft palate repair, and for congenital anterior glottic webs, tracheotomy or surgical reconstruction.  For immunodeficiency there are therapies including thymus transplantation and adoptive transfer of mature T cells (ATMTC).

(Source: http://emedicine.medscape.com/article/886526-treatment )

MORE INFORMATION:

Chromosome 22 deletion: http://www.chop.edu/conditions-diseases/chromosome-22q112-deletion

22q and You Center: http://www.chop.edu/centers-programs/22q-and-you-center

Children’s Hospital of Philadelphia: http://www.chop.edu

FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:

Donna M. McDonald-McGinn

mcginn@email.chop.edu

215-590-2920

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com.

 

Doctor Q and A

Read the entire Doctor Q&A for Donna McDonald-McGinn, MS, LCGC

Read the entire Q&A