Does Noonan syndrome qualify for disability?

The majority of children who are diagnosed with Noonan syndrome have average intelligence, although a small percentage have special educational needs, and some experience intellectual disability.

Is Noonan syndrome an intellectual disability?

Up to 35 per cent of people with Noonan syndrome will have a mild intellectual disability, but most people will be unaffected. People who experience intellectual disability with Noonan syndrome may also experience developmental delays with their speech, language and coordination.

Does Noonan syndrome cause mental retardation?

Approximately 25% of individuals with Noonan syndrome have mental retardation. Bleeding diathesis is present in as many as half of all patients with Noonan syndrome.

How long can you live with Noonan syndrome?

It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

Does Noonan syndrome affect intelligence?

Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low‐average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems.

Noonan's Syndrome - CRASH! Medical Review Series

Is Noonan syndrome a form of autism?

ASD & Noonan Syndrome

There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the RAS/MAPK pathway is involved in autism and mutations in this pathway are responsible for Noonan Syndrome. This is significantly higher incidence of ASD than in the non-NS population (1.5%).

What part of the body does Noonan syndrome affect?

What Is Noonan Syndrome? Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child's risk of blood cancer (leukemia). Noonan syndrome is a pretty common condition, affecting 1 in 1,000–2,500 babies.

Can people with Noonan syndrome live normal lives?

Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.

What is the long term outlook for a child with Noonan syndrome?

Some affected children may also have other ongoing health problems such as problems urinating, blood disorders, etc. However, with special care and counselling, the majority of children with NS grow up and function normally as adults. The long-term prognosis of people with Noonan syndrome is variable.

What challenges do people with Noonan syndrome face?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

Is Noonan syndrome serious?

Noonan syndrome can range from being very mild to severe and life-threatening. In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time.

Is Noonan syndrome detected before birth?

Abstract. Noonan syndrome is one of the most common of genetic syndromes and manifests at birth, yet it is usually diagnosed during childhood. Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero.

Does Noonan syndrome cause seizures?

Notably, although seizure disorder (13%) is not uncommon in patients with Noonan syndrome [14], neurological impairment in patients with mutations in the RAS/MAPK pathway could be more severe and linked to certain forms of refractory epilepsy, especially epileptic encephalopathy and infantile spasms [15–17].

Does Noonan syndrome affect the lungs?

Approximately two thirds of infants with Noonan syndrome also have heart (cardiac) abnormalities at birth (congenital heart defects). In about half of such cases, affected infants have obstruction of the normal flow of blood from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis).

What type of doctors treat Noonan syndrome?

If it's suspected that you or your child has Noonan syndrome, you're likely to start by seeing your primary care doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist — for example, a cardiologist or a geneticist.

What is mild Noonan syndrome?

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

How does a medical professional diagnose Noonan syndrome?

How is Noonan syndrome diagnosed? A doctor can diagnose Noonan syndrome with a physical examination and a review of the symptoms. In some newborn babies, Noonan syndrome is often suspected by the baby's appearance. The doctor may order tests to identify genetic mutations or to look for heart defects.

Why is it called Noonan syndrome?

Pediatrician John Opitz proposed the eponym Noonan syndrome, which was adopted in recognition of dr. Noonan, as she was the first to indicate that this condition occurs in both sexes, is familial in certain cases, includes congenital heart defects and is associated with normal chromosomes.

Is Noonan syndrome dominant or recessive?

In around 30-75% of cases, Noonan syndrome is inherited in what's known as an autosomal dominant pattern. This means that only one parent has to carry a copy of one of the faulty genes to pass it on, and each child they have will have a 50% chance of being born with Noonan syndrome.

Does Noonan syndrome affect behavior?

behavioural problems – some children with Noonan syndrome may be fussy eaters, behave immaturely compared to children of a similar age, have problems with attention and have difficulty recognising or describing their or other people's emotions.

Is Noonan syndrome a chromosomal disorder?

Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. In about one-third to two-thirds of families one of the parents also has Noonan syndrome.

What is another name for Noonan syndrome?

Other names. Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome.

Does Noonan cause miscarriage?

Both of these tests carry around a 0.5 to 1% chance of causing a miscarriage.

Is genetic counseling an option for Noonan syndrome?

Since Noonan syndrome is inherited in an autosomal dominant pattern, adequate genetic counseling prior to conception is recommended especially in parents with family history of a similar syndrome.