Chromosome 22q11.2 duplication syndrome

Living with

What is the general well-being of individuals with 22q11.2 duplication syndrome?

Overall, children and adults with a 22q11.2 duplication are generally healthy. The difficulties some children with 22q11.2 duplication have with fine motor skills mean that affected children may be late to learn how to undress, dress, and wash themselves. Toilet training may also be delayed.

Unique (a rare chromosomal support group) reports a small number of young children with 22q11.2 duplication syndrome with frequent respiratory infections (that can become serious chest infections) and an even smaller number (three children and one adult) have significant allergies. A further small number, around six per cent, have been reported with frequent headaches or migraines.

Overall, a small number of children with 22q11.2 duplication seek medical care at a hospital more often than typically developing children. The most common reason for seeking medical care at a hospital is temporary hearing loss that is caused by a build-up of fluid inside the ear spaces, with respiratory infections being another common reason.

The medical and developmental symptoms found in individuals with 22q11.2 duplication syndrome vary significantly from one affected individual to another, even within the same family. Some individuals with 22q11.2 duplication do not experience any known symptoms at all. Therefore, the impact of having 22q11.2 duplication syndrome on an individual's overall well being also varies greatly.

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/
Show More Content Like This

More Living with Content

How should I monitor a pregnancy with 22q11.2 duplication syndrome?

Are there lifelong feeding difficulties seen in 22q11.2 duplication syndrome?

How should I monitor a pregnancy with 22q11.2 duplication syndrome?

Some pregnancies of babies affected with 22q11.2 duplication have been reported as normal with no identified complications. When pregnancy complications have been reported in pregnancies with babies affected by 22q11.2 duplication syndrome, no specific pattern of recurrent abnormality was obvious. One pregnancy with a baby affected with 22q11.2 duplication syndrome included intermittent bleeding throughout the pregnancy and the baby was born at 36 weeks. Six mothers from the Unique population (a rare chromosomal support group) had pre-eclampsia (a condition in pregnancy characterized by high blood pressure). At the time of this publication, Unique has reported 34 members with a 22q11.2 duplication.

Some of the physical health issues which may affect babies with 22q11.2 duplication syndrome may be screened for prenatally (eg, a fetal echocardiogram to look for structural heart defects). If a baby is diagnosed prenatally with 22q11.2 duplication syndrome, the pregnant mother could consult a Maternal Fetal Medicine specialist (high risk pregnancy expert) for pregnancy management recommendations. The woman's obstetrician could provide referral to the Maternal Fetal Medicine specialists in a given area.

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/
  • Unique. (2012). 22q11.2 duplications. Retrieved February 20, 2016, from http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf
Are there lifelong feeding difficulties seen in 22q11.2 duplication syndrome?

While some babies and children with 22q11.2 duplication syndrome experience no feeding issues, other affected individuals may experience feeding difficulties. Feeding problems, when present, frequently start in the newborn period when babies may lack the energy, coordination or ability to suck strongly enough to have enough intake to meet their own nutritional needs. Babies with cleft palate (incomplete closure of the palate (roof) in the mouth) may need adaptive feeding equipment until their palate is surgically repaired.

In some individuals with 22q11.2 duplication syndrome, early feeding difficulties later led to difficulties handling solids at weaning, and later a generally poor appetite. Some children with 22q11.2 duplication syndrome have delays in fine motor skills, which may lead to delay in learning to feed themselves. These children may benefit from adapted cutlery. Some individuals with 22q11.2 duplication syndrome experience gastroesophageal reflux (GERD), which may require medical intervention.

Individuals with 22q11.2 duplication syndrome may be able to be managed by their primary care physician, or may benefit from speech therapy, feeding therapy, and/or consultation with a gastroenterologist.

References
  • Unique. (2012). 22q11.2 duplications. Retrieved February 20, 2016, from http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me