Chromosome 22q11.2 duplication syndrome

Treatment

Is there treatment(s) for 22q11.2 duplication syndrome?

There is currently no treatment or cure to correct the underlying genetic change in 22q11.2 duplication syndrome. However, individuals with 22q11.2 duplication syndrome can seek treatment for their specific symptoms of 22q11.2 duplication syndrome. Depending on the individual, this may include: speech therapy, occupational therapy, physical therapy, ophthalmologist (eye specialist), cardiologist (heart specialist) and neurologist (involved with the study and treatment of disorders of the nervous system). Routine pediatric care, routine developmental assessments and monitoring of specific identified medical issues is also recommended. Individuals with learning or developmental problems may receive special services and educational support in school. Some individuals with 22q11.2 duplication syndrome have no known symptoms related to the duplication and do not require any specific medical intervention.

References
  • Genetics Home Reference. (2011). 22q11.2 duplication. Retrieved February 20, 2016, from http://ghr.nlm.nih.gov/condition/22q112-duplication
  • Firth HV. 22q11.2 Duplication. 2009 Feb 17 [Updated 2013 Nov 21]. 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/NBK3823/
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Are there organ specific treatments/symptoms to treat 22q11.2 duplication syndrome?

Are there organ specific treatments/symptoms to treat 22q11.2 duplication syndrome?

Babies and children with a known chromosome disorder or developmental delay including 22q11.2 duplication syndrome should have a careful eye examination to ensure that any problem with vision is addressed early. For individuals who have a squint (strabismus), treatment may include patching the stronger eye, eye movement exercises, glasses to correct vision problems and surgery to realign the muscles that hold the eye in place. Children and adults with a 22q11.2 duplication may need special dental care, depending on whether or not they have any concerns with their teeth. Hearing should be monitored, and if hearing loss is present, should be identified and treated as quickly as possible.

Babies with 22q11.2 duplication may be born with a cleft palate, which is the result of a failure of normal closure of the palate (roof) of the mouth. Babies with a cleft palate may need adaptive equipment to enable proper feeding until their cleft palate is surgically repaired. In addition, individuals with 22q11.2 duplication syndrome may have velopharyngeal insufficiency (VPI), a disorder that results in the soft palate of the back of the mouth closing incorrectly, allowing air to escape through the nose instead of the mouth. Some individuals with VPI benefit from speech therapy, and some require surgical treatment.

Individuals with 22q11.2 duplication syndrome may have a variety of structural and functional heart problems. Depending on the specific heart issue, treatment may include monitoring, medication, and/or surgical intervention.

When individuals with 22q11.2 duplication have developmental issues, they typically fall in the mild-to moderate range and respond well to early intervention and therapy. Children with 22q11.2 duplication may benefit from occupational therapy as well as play therapy. If behavior management programs are not sufficient for individuals with 22q11.2 duplication who have behavior issues with immaturity, anxiety and poor impulse control, medication has often been tried, generally with success.

At the date of this publication, twelve children within the Unique population (a rare chromosomal support group) have been diagnosed with epilepsy. Medication is sometimes, but not always, successful in controlling seizures in children with epilepsy.

While there are many specialists who may be involved in evaluating and treating specific symptoms of 22q11.2 duplication syndrome (ophthalmologists, cardiologists, neurologists, etc), an individual with 22q11.2 duplication syndrome should still receive regular care from a primary care physician. A medical geneticist may be involved in ensuring that an individual with 22q11.2 duplication syndrome receives appropriate medical services (screening, diagnosis and management).

References
  • Unique. (2012). 22q11.2 duplications. Retrieved February 20, 2016, from http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf
  • Hassed, Susan J., et al. "A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome." Clinical genetics 65.5 (2004): 400-404
  • Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B., Thorland, E. C., Lorentz, C. P., Goldstein, J. L., McDonald, M. T., Smith, W. E., Simon-Fayard, E., Alexander, A. A., Kulharya, A. S., Ketterling, R. P., Clark, R. D., Jalal, S. M. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
  • Yobb, Twila M., et al. "Microduplication and triplication of 22q11.2: a highly variable syndrome." The American Journal of Human Genetics 76.5 (2005): 865-876.

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