What challenges do people with Noonan syndrome face?
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.
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 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.
How does Noonan syndrome affect daily life?
About 50% of people with NS have a heart defect since birth such as a hole in the heart (patent ductus arteriosus), heart valve hardening (stenosis), etc. Some affected children may also have other ongoing health problems such as problems urinating, blood disorders, etc.
How long is the average lifespan of a person 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.
Is Noonan syndrome like autism?
Few reports have described the psychiatric co-morbidity of Noonan syndrome. While mental retardation is a common feature of Noonan syndrome, the diagnosis of autism using operational criteria has not been reported. In this paper, the authors describe the association of Noonan syndrome with autism.
What is the average lifespan of someone with Noonan syndrome?
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.
What part of the body does Noonan syndrome affect?
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.
Does Noonan syndrome have mental retardation?
The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature, and chest deformity. Approximately 25% of individuals with Noonan syndrome have mental retardation.
Can Noonan syndrome be mild?
The symptoms of Noonan syndrome can be mild to severe. Two children with Noonan syndrome may have completely different symptoms and skills.
Can Noonan syndrome be very mild?
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.
What is another name for Noonan syndrome?
Other names. Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome.
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%).
Is Noonan’s hereditary?
Noonan syndrome is most often an autosomal dominant genetic disorder caused by abnormalities (mutations) in several different genes, the main ones being: PTPN11, KRAS, SOS1 RIT1 and RAF1.
Can you live a normal life with Noonan syndrome?
In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time. Almost all children with Noonan syndrome reach adulthood and most are able to lead normal, independent lives.
Can people with Noonan syndrome have a normal life?
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.
How long is the average life span of a person with Noonan syndrome?