What’s in a name? 22q Deletion Syndrome

22q Deletion SyndromeHave you ever heard of DiGeorge syndrome? How about Velocardiofacial syndrome? 22q deletion syndrome? Maybe your answer is yes, but it would not be surprising for the answer to these questions to be no.

That is part of the problem.

One in every 2,000 to 4,000 children born have 22q11.2 deletion syndrome, making it almost as common as Down syndrome. Yet it’s an unfamiliar term to most people.

Still not convinced?

22q11.2 deletion syndrome is the most common cause of syndromic cleft palates, and it affects 1 in 68 children born with congenital heart disease.

Due to the multiple names that encompass 22q11.2 deletion syndrome, though, it’s not surprising that it is a foreign term to so many people.

For decades, doctors in a variety of medical specialties have generated multiple names based upon the symptoms they found most important. Since medical specialists diagnosed the syndrome based upon their area of expertise, a variety of names were created, which included: DiGeorge syndrome, velo-cardial-facial syndrome, Cayler cardiofacial syndrome and several others.

For many years, these were viewed as independent syndromes, with no unifying explanation for the cause of the common features they share. With improvements in genetic testing, geneticists were able to identify that these patients share a common chromosomal foundation: a missing section of chromosome 22. Meaning, all these seemingly individual syndromes actually share the same underlying condition — this underlying condition is referred to as 22q11.2 deletion syndrome—22q for short.

The basics about 22q

Children with 22q may first be diagnosed in-utero, at birth or even later in childhood as symptoms appear. The earlier a diagnosis is made, the better.

The diagnosis is made by one of two genetic tests that can identify the missing section of chromosome 22. A deletion on chromosome 22 can affect almost every system in the body and can cause a wide range of health problems, including:

  • heart defects
  • palate differences
  • feeding and gastrointestinal difficulties
  • immune system deficits
  • endocrine issues
  • kidney problems
  • hearing loss
  • cognitive, developmental and speech delays
The Same Name Campaign

The International 22q11.2 Foundation launched the Same Name Campaign to unify this community of patients and clinicians that has historically been divided into many smaller groups.
By adopting broader usage of the name 22q, patients with the syndrome who present with one health issue will now be monitored for other issues that are common in 22q patients. This will ensure they get prompt care.

Just as importantly, it will help families connect in a more meaningful way. Peer support is such an important aspect of raising a child with a chronic condition. By breaking down some of the silos around these individual communities, we give families better access to support one another. You can imagine a situation where a family might search online for support groups for DiGeorge syndrome families in their area and come up empty, when in reality they could benefit greatly from connecting with families of children with velocardiofacial syndrome and other 22q11.2 deletion syndromes who share many of the same challenges and experiences of life with 22q.

So, what’s in a name? A lot actually, and the Same Name Campaign is working to use the 22q name to widen the circle of support and education available to clinicians and families of children with the 22q11.2 deletion syndrome everywhere.

Take the next steps:

Natalie Wombacher, MS, CCC-SLPNatalie Wombacher, MS, CCC-SLP, is the speech-language pathologist for the Craniofacial Anomalies Program at C.S. Mott Children’s Hospital. She received her bachelor’s degree in speech and hearing science from the University of Illinois and her master’s degree in communication sciences and disorders from Illinois State University. Natalie was the first Craniofacial Speech Fellow at Nationwide Children’s Hospital in Columbus, OH, where she trained in the Cleft Lip and Palate Center and also within their 22q Center, making her one of a few speech pathologists in the country with a unique expertise in helping children with 22q. As a member of the Craniofacial Anomalies Program team at C.S. Mott children’s Hospital, Natalie follows patients’ speech development from 8 months of age through adulthood. In working with the cleft lip and palate population and the 22q population, Natalie performs an initial assessment of their speech between 8 and 10 months of age, and makes recommendations for treatment. Patients then meet with Natalie yearly through their team evaluations where she is able to assess patients’ speech and language development.

best children's hospitalsUniversity of Michigan C.S. Mott Children’s Hospital is consistently ranked one of the best hospitals in the country. It was nationally ranked in all ten pediatric specialties in U.S. News Media Group’s “America’s Best Children’s Hospitals,” and among the 10 best children’s hospitals in the nation by Parents Magazine. In December 2011, the hospital opened our new 12-story, state-of-the-art facility offering cutting-edge specialty services for newborns, children and women.