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FAQWHAT IS NOONAN SYNDROME?
The term Noonan syndrome began to be used in 1963 when Dr. Jacqueline Noonan, a pediatric cardiologist, reported nine children with pulmonic stenosis, short stature, and a characteristic face. A characteristic face refers to the fact that children with Noonan syndrome tend to resemble each other more than they resemble their siblings or parents. The following table lists the most common features associated with Noonan syndrome.
WHAT ARE THE CHARACTERISTICS/ FEATURES OF NOONAN SYNDROME?
Individuals with Noonan syndrome are said to have variable expression of these features. This means that while some individuals will have many of these features, others may have only a few of them. In addition, the degree of severity may vary from individual to individual, even within a family. Because of the different expression of Noonan Syndrome, it sometimes can be confused with other genetic syndromes. Some examples of other syndromes that may be confused with Noonan syndrome are: LEOPARD, Williams Syndrome, Kabuki syndrome, Watson syndrome, Aarskog syndrome and Cardiofaciocutaneous (CFC) syndrome.FACIAL FEATURES:
HOW IS NOONAN SYNDROME DIAGNOSED?Diagnosis relies mainly on clinical examinations. This means that the diagnosis is made when a physician recognizes the features of the syndrome occurring together in an infant, child, or adult. Many different physicians including pediatricians, geneticists, and cardiologists diagnose Noonan syndrome. Although the diagnosis can be made during infancy, Noonan syndrome is often not detected until early childhood when the features become more evident.
Recently a gene for Noonan syndrome has been identified. This altered gene has been found in half of individuals with Noonan syndrome. The genes has been identified as PTPN11, which is located on chromosome 12q24.1. The PTPN11 gene protein plays a role in various developmental processes. When there is a change in this gene, it disrupts development and causes Noonan syndrome. Genetic (DNA) testing is now available to look for a change in this gene. Not everyone with Noonan syndrome will have a change in the PTPN11 gene. They may be the other 50% of people with Noonan syndrome that do not have a change in the PTPN11 gene. Ask your geneticist for more information about testing options.
IS PRENATAL TESTING AVAILABLE?
Prenatal testing for Noonan syndrome is not currently available for everyone. In families at high risk to have a child with Noonan syndrome, ultrasounds performed after the sixteenth week of pregnancy may detect some features of the condition. Detailed ultrasound examinations have revealed cystic hygromas (fluid accumulation in the neck), polyhydramnios (excess amniotic fluid), and heart defects in pregnancies of fetuses with Noonan syndrome.
Since these features can be seen in fetuses without Noonan syndrome, they are nonspecific observations. As a result, Noonan syndrome may be suspected, but not diagnosed, prenatally. When the gene responsible for Noonan syndrome is identified, prenatal diagnosis may become available.
Prenatal testing may be available for some families at high risk of having a child with Noonan syndrome. As the gene responsible for 50% of the cases of Noonan syndrome has been identified, prenatal diagnosis may be available for families that possess a change in the PTPN11 gene. If you would like further information about prenatal testing, ask your geneticist.
CAN NOONAN SYNDROME BE CURED?
There is no cure for Noonan syndrome. The genetic change responsible for Noonan syndrome is in every cell of the body and there is not a way to “fix” this change. However, some of the features of Noonan syndrome can be treated. For example, if your child has a heart defect, a pediatric cardiologist may recommend surgery to correct the defect. Or, you may wish to pursue growth hormone therapy if you are concerned about your child’s height.
AGE OF PEOPLE WITH NS
WILL AN INDIVIDUAL WITH NOONAN SYNDROME ATTEND A REGULAR SCHOOL?
Individuals with Noonan syndrome are most often of normal intelligence and attend regular classes in school. Approximately one third of individuals with Noonan syndrome will have learning disabilities and some will have cognitive disability. The most common associated learning disability seen is difficulty in verbal reasoning.
Children with learning disabilities or cognitive disability usually attend a regular school. However, they most likely will need some extra help in subjects such as reading and math.
This information is from a book : A GUIDE TO UNDERSTANDING NOONAN SYNDROME
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HERE ARE SOME OF THE WAYS YOU CAN SUPPORT TNSSG, INC.
DO SOMETHING -WE NEED YOUR CONTINUED SUPPORT- BE A PART OF THE SOLUTION “The only disability is a bad attitude.”
ADOPT A HIGHWAY FOR AWARENESS
Here is a suggestion from another non-profit organization-
The adopt a Highway program allows civic, family and business groups and non-profit community organizations to adopt a section of highway in their state for an agreed upon length of time. The group is responsible for a set number of litter pickups. Trash bags and disposable gloves are provided by the DOT, along with orange safety vests. The Department of Transportation (DOT) will recognize the groups’ efforts by erecting a sign with the groups name along the adopted section of highway. Adopt a Highway programs are available in most states, along with other similar programs that allow the planting of flowers or shrubs. Contact the Department of Transportation or the State Highway Administration in your state for details.
Here is a way you can clean up your streets and promote awareness of The Noonan Syndrome Support Group, Inc.
WHO WILL BE THE FIRST FAMILY TO ADOPT HIGHWAY FOR THE NOONAN SYNDROME SUPPORT GROUP, Inc?
WE NEED YOUR HELP. IF YOU LIVE OUTSIDE THE USA?
Would you be willing to photocopy the Noonan Connection and mail it to other people in your country? It has become too expensive to mail each edition of The Noonan Connection out of country.
An edited edition of The Noonan Connection is available online. 28 people in the UK will receive this edition thanks to the efforts of Michelle Ellis, we would also like to thank Simon Bland of East Surrey College, Redhill, Surrey, U.K for kindly photocopying this newsletter. Contact: click here if you can help
The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.