22q11.2 deletion syndrome

Treatment

Is there a treatment for 22q11.2 deletion syndrome?

There is no cure or treatment that can eliminate all the symptoms of 22q11.2 deletion syndrome. Healthcare providers treat symptoms as they arise and will tailor a patient's medical management to their specific health concerns. Most individuals with 22q11.2 deletion syndrome are followed by a team of doctors that specialize in various fields of medicine. These doctors and professionals may include audiologists, cardiologists, endocrinologists, immunologists, ENT (eyes, nose, and throat) specialists, neurologists, psychiatrists, gastroenterologists, and others. The International 22q11.2 Foundation Inc. offers a medical checklist for parents to help keep tracks of what specialists their child with 22q11.2 deletion syndrome may see. The checklist can found on their website at http://www.22q.org/wp-content/uploads/2016/02/Medical-Needs-22q.pdf.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1523/
  • International 22q11.2 Foundation. http://www.22q.org/
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Can anything make 22q11.2 deletion syndrome worse?

What treatment is available to keep the symptoms of 22q11.2 deletion syndrome from getting worse?

Should people with 22q11.2 deletion syndrome have vaccinations?

What specialists need to be seen following an initial diagnosis of 22q11.2 deletion syndrome?

Can anything make 22q11.2 deletion syndrome worse?

People with 22q11.2 deletion syndrome should limit consumption of carbonated drinks, alcohol, and caffeine. Drinking alcohol and carbonated beverages, like soda, can increase risk for hypocalcemia (low levels of calcium in the blood). Additionally, consuming caffeine may worsen symptoms of anxiety. If you or your child feels that symptoms are worsening, please talk to your healthcare provider about the possible cause and treatments.

References
What treatment is available to keep the symptoms of 22q11.2 deletion syndrome from getting worse?

Calcium concentration in the blood should be monitored carefully to avoid hypocalcemia (too little calcium), which can lead to seizures. To prevent this, extra calcium may be given. Additionally, providing a child with 22q11.2 deletion syndrome with speech therapy and educational help may help to lessen the level of delay and reach their highest potential. As it can be hard to tell if your child may be falling behind in terms of development, the International 22q11.2 Foundation Inc. has created guidelines of when children with 22q11.2 deletion syndrome generally acquire skills so that parents can let their child's primary care provider know early and obtain the proper resources. This guideline can be found on their website at http://www.22q.org/resources-for-22q/for-families/parent-support/developmental-skills/.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1523/
  • International 22q11.2 Foundation. http://www.22q.org/
Should people with 22q11.2 deletion syndrome have vaccinations?

Since children with 22q11.2 deletion syndrome can have problems fighting infections, it is very important that they receive the usual childhood immunizations. Some vaccines contain "live" virus, which is deactivated so that it won't make people sick, but will help the immune system recognize the virus and build up antibodies to that virus. Infants with 22q11.2 deletion syndrome should have their doctor assess their immune system before giving "live" vaccines. There is a small chance that they could get sick from the small amount of live virus in the vaccine. Some studies have shown that giving individuals with 22q11.2 deletion syndrome live vaccines does not carry a significantly higher risk of adverse reactions compared with the general population, provided that they are not severely immunocompromised.

A consultation with an immunologist may be recommended beforehand to determine what is medically recommended for each individual and a child's immune status will often be reevaluated before giving live vaccines. To find an immunologist in your area, please talk to your healthcare provider.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1523/
  • Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003;112(4)
What specialists need to be seen following an initial diagnosis of 22q11.2 deletion syndrome?

Following a diagnosis of 22q11.2 deletion syndrome, an individual will likely need to see several doctors who focus in different fields of medicine. After initial diagnosis, appointments with cardiology, endocrinology, and immunology should be made. An ultrasound of the kidneys should be done to look for any structural defects of the kidneys. Your doctor may also consider ophthalmology (eye) and audiology (hearing) evaluations. If the child is a little older (~3-4 years old) at the time of diagnosis, an x-ray of the neck should be ordered as well. Depending on the age of the individual, speech and language ability should be assessed as well as overall development.

The Journal of Pediatrics published guidelines for healthcare providers in 2011 on how individuals with 22q11.2 deletion syndrome should be followed and the necessary evaluations after an individual is first diagnosed. These guidelines can be found at http://www.22q.org/wp-content/uploads/2016/02/22q11DS_Guidelines_Epublished_JPeds_May12th2011.pdfThe International 22q11.2 Foundation Inc also offers a medical checklist for parents to help keep tracks of what specialists their child with 22q11.2 deletion syndrome may see. The checklist can found on their website at http://www.22q.org/wp-content/uploads/2016/02/Medical-Needs-22q.pdf.

References

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