Noonan syndrome

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How long to people with Noonan syndrome live?

Children with Noonan syndrome are expected to have a normal life span. It is important that children see the right doctors to make sure any necessary surgeries or treatments are done to avoid complications later in life.

Speak to a genetic counselor or a medical geneticist to learn more about Noonan syndrome.

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Does my child with Noonan syndrome need special education?

Is Noonan syndrome genetic testing covered by my insurance company?

Are genetic testing results for Noonan syndrome private?

Can I test my pregnancy for Noonan syndrome?

Can you detect Noonan syndrome on a prenatal ultrasound?

If my child didn't get Noonan syndrome from a parent, why is it called a genetic disorder?

If genetic testing is negative, does this mean I don't have Noonan syndrome or my child doesn't?

Did anything I do during my pregnancy cause Noonan syndrome?

Does my child with Noonan syndrome need special education?

Most children do well in a normal educational setting, but 25% have learning disabilities and 10% to 15% require special education. Intellectual abilities are mildly lowered in children with Noonan syndrome. IQ scores below 70 are seen in 6% to 23%

Articulation deficiency is also common in Noonan syndrome (72%) but usually responds well to speech therapy. Language delay may be related to hearing loss or articulation deficiencies. Children typically say their first words around 15 months and simple two-word phrases around age 31 to 32 months.

Is Noonan syndrome genetic testing covered by my insurance company?

In the United States, most health insurance companies will cover most testing costs. Your doctor or genetic counselor might need to write a letter to explain why testing is needed. Many people are worried that the results of the genetic test will affect the chances of getting health insurance. The federal law known as Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from using your genetic information, which includes the following.

1. Employers cannot deny you a job because of the results of genetic testing

2. Health insurers cannot use genetic testing to deny you coverage or set your insurance rates

3. Employers and insurers cannot require you to have genetic testing.

In the United States, no federal legislation directly addresses the issue of genetic testing and life insurance. Although a few states have passed statewide laws restricting the use of genetic information in life, disability and long-term care insurance, GINA does not cover these types of insurance and it is recommended that you explore life insurance options before genetic testing.

Speak to a genetic counselor or a medical geneticist to learn more about genetic testing and insurance coverage for Noonan syndrome.

State by state information on genetic testing and life, disability, and long term care insurance can be found at the National Conference of State Legislatures website.

Are genetic testing results for Noonan syndrome private?

Some people may feel concerned about maintaining the privacy of their genetic information. Your doctor isn't allowed to tell anyone that you have had a genetic test or the results without your consent; however, your health insurance company can request your medical records if you give them permission. Consider discussing privacy concerns with your genetic counselor or geneticist.

Can I test my pregnancy for Noonan syndrome?

If you have had a previous child with Noonan syndrome or a family member has, and the genetic cause is known, testing can be done in a future pregnancy. Testing options include chorionic villus sampling (CVS) and amniocentesis. CVS involves removing a piece of the placenta for genetic testing. CVS can be performed around 10-12 weeks of gestation. With CVS there is a small risk for confined placental mosaicism. This means that a genetic change could be present in the placenta that is not present in the baby or that a genetic change could be present in the baby that is not present in the placenta. The risk for confined placental mosaicism is approximately 1%. Amniocentesis involves taking a sample of amniotic fluid found for genetic testing. This testing can be performed starting at 15 weeks of gestation. Because both CVS and amniocentesis are invasive, there is a small risk for miscarriage

Speak to a genetic counselor or a medical geneticist to learn more about prenatal testing for Noonan syndrome.

Can you detect Noonan syndrome on a prenatal ultrasound?

Comprehensive ultrasound examination around 18 to 20 weeks' gestation may be able to detect some features of Noonan syndrome. Prenatal features are nonspecific but may include polyhydramnios, hydronephrosis, pleural effusion, edema, heart defects, cystic hygroma, and increased nuchal translucency. The presence of these findings should suggest the diagnosis of Noonan syndrome. In pregnancies with normal chromosomes, the diagnosis of Noonan syndrome will be made in approximately 5%-15% of cases with nuchal edema detected in the first trimester and 10% of second-trimester pregnancies with a cystic hygroma. However, the absence of these features on ultrasound does not rule out the diagnosis of Noonan syndrome. Ultrasound is considered a screening test and is not diagnostic.

Speak to a genetic counselor or a medical geneticist to learn more about Noonan syndrome.

If my child didn't get Noonan syndrome from a parent, why is it called a genetic disorder?

Noonan syndrome is called a genetic disorder because we know it is caused by a change or mistake in the body's genetic instructions. However, just because it has a genetic cause, that does not mean it is hereditary, or inherited from a parent.

If genetic testing is negative, does this mean I don't have Noonan syndrome or my child doesn't?

If a diagnosis of Noonan syndrome is suspected but genetic testing does not find a gene change this does not mean that someone does not have Noonan syndrome. It means that genetic testing did not find a genetic cause; however genetic testing is not perfect. Approximately 10% of individuals with a clinical diagnosis of Noonan syndrome will not have an identifiable gene change. Additional genes for Noonan syndrome may be discovered in the future.

Speak to a genetic counselor or a medical geneticist if you are concerned about Noonan syndrome.

Did anything I do during my pregnancy cause Noonan syndrome?

There is nothing that you do to cause or prevent Noonan syndrome from happening. When an egg and a sperm meet to form a baby, there is genetic information from the mother and from the father that combine together. This has to happen in a very specific way and at the exact right time. Sometimes mistakes in the genetic information happen in this process. This change or mistake in the genetic information has been present from the very start of a baby's life.

Speak to a genetic counselor or a medical geneticist to learn more about Noonan syndrome.

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