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.

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 syndrome on the spectrum?

Noonan spectrum disorders (NSD) are a group of genetic syndromes caused by pathogenic germline variants in genes in the Ras/mitogen activated protein kinase (MAPK) pathway, which controls the cell cycle and cell differentiation.

What is similar to Noonan syndrome?

Among them, LEOPARD syndrome (PTPN11, RAF1 and BRAF), Noonan-like syndrome with loose anagen hair (SHOC2), neurofibromatosis-Noonan syndrome (NF1), cardiofaciocutaneous syndrome (BRAF, KRAS, MEK1 and MEK2), and “CBL mutation-associated” syndrome (CBL) are the most close.

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.

Noonan's Syndrome - CRASH! Medical Review Series

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.

Is Noonan syndrome a learning disability?

Other less common characteristics of Noonan syndrome can include: learning disability – children with Noonan syndrome tend to have a slightly lower-than-average IQ and a small number have learning disabilities, although these are often mild.

What is the life expectancy of someone 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'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.

What is the survival rate of Noonan syndrome?

Summary: Infants less than six months old with Noonan Syndrome, hypertrophic cardiomyopathy and congestive heart failure normally have a poor prognosis, with a one-year survival rate of 34 percent.

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.

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.

Is Noonan syndrome life threatening?

While Noonan syndrome is not life-threatening, if you have the condition you may experience associated illnesses, including heart disease, bleeding disorders, and some types of cancer at some point during your lifetime.

Can Noonan syndrome be cured?

There's currently no single treatment for Noonan syndrome, but it's often possible to successfully manage many aspects of the condition. For example, severe heart defects may need to be repaired with surgery, and growth hormone medicine may be used to help prevent restricted growth.

What causes Noonan syndrome?

Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child's parents. There's no evidence to suggest the genetic fault is caused by environmental factors, such as diet or exposure to radiation.

What are the characteristics of Noonan syndrome?

Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes.

Does Noonan syndrome affect behavior?

30% of people who have been diagnosed as having Noonan Syndrome with Multiple Lentigines (formerly LEOPARD Syndrome) have learning diabilities; most evident of which being verbal recall memory.

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.

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.

Can Noonan syndrome affect females?

Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability.

What is a webbed neck?

Ontology: Neck webbing (C0221217)

A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.

What does Noonan mean?

Listen to pronunciation. (NOO-nun SIN-drome) A genetic disorder marked by unusual facial features, being shorter than normal, learning problems, heart defects, bleeding problems, defects in the skeleton (bones of the body), and fertility problems in males.

What does it mean if your eyes are far apart?

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal.

How do they test for Noonan syndrome?

In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test won't rule out Noonan syndrome.

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.