Adulthood 

 

 

 










 


 

 

22q11 Deletion Syndrome Home
 
Medical Concerns
Who May be in a Medical Team?
Developmental Issues (In Progress)
Social Issues (In Progress)
What Can I Do?

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Medical Concerns

It is difficult to predict the course of 22q11 deletion Syndrome for any particular individual with the condition. While the genetic changes of 22q11 Deletion Syndrome do not disappear once they occur, which specific medical, developmental and/or social considerations an individual will have to contend with is unknown. Learning disabilities or medical problems such as heart disease may not disappear in adulthood; however, strategies to manage these difficulties may have been successfully developed.

As discussed in infancy, childhood, and adolescence, some individual’s will have no medical or developmental concerns, while others will have multiple. Within a family, multiple members may have 22q11 deletion syndrome with varying levels of concerns. While the loss of genetic material on Chromosome 22q11 is sporadic for most individuals with 22q11 deletions, the risk for an individual to pass that deletion on to his/her children is 50% in each pregnancy. Some adults with 22q Deletion Syndrome did not know they had a deletion until they had a child with the condition. In other words, there are some people with the deletion on chromosome 22, but with no apparent medical problems.

We are just beginning to learn more about 22q Deletion Syndrome in adulthood. As our understanding evolves, so will appropriate diagnostic and treatment techniques and strategies.

 

Last Update 6-18-04

Who May be in a Medical Team?

A General Practitioner can perform several examinations and/or tests of your health. If any of these tests indicate the need for further follow up, the provider may refer you to a specialist. Some of the specialists who may be involved in providing care are:

  • Cardiologist
    Cardiologists are doctors who specialize in conditions of the heart and vascular system. Routine examinations by a cardiologist include listening carefully to heart sounds, performing an ultrasound for the heart (echocardiogram), performing rhythm tests (ECG) and possibly cardiac catheterization. Cardiologists provide medical treatment plans and interventions when appropriate.
     
  • Psychologist/Psychiatrist
    A doctor who specializes in mental health issues can evaluate and treat psychological or psychiatric disorders.
     
  • Counselor
    A counselor, therapist, or social worker can offer guidance and support to individuals and families.
     
  • Geneticist / Genetic Counselor
    A geneticist and/or a genetic counselor (specialists in congenital and inherited disorders) might be helpful in establishing a diagnosis, offering chromosomal analysis and/or FISH testing, coordinating care, providing emotional support, keeping parents up to date with the latest medical information, assessing recurrence risk and prenatal diagnosis.
     
  • Neurologist
    A doctor who specializes in disorders of the nervous system can evaluate the risk for seizures.

 

Last Update 06-18-04