Noonan syndrome

present in Noonan Syndrome. Many studies listed other cognitive functions that may be impacted by NS, and depending on the nature of the function, it could have a negative impact on language and speech. “Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome” (Pierpont et al., 2014, p.391). Since some links have been made between Noonan Syndrome and delays

Abstract Noonan syndrome is an inherited disorder of cell growth affecting both males and females and characterized by distinctive facial features, short stature, heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. This paper will explore current statistics of those affected and explanations on how the various body systems are impacted.   Noonan Syndrome (autosomal dominant condition) is a fairly common disease, affecting 1 in every 1,000-2,500 people. It is

a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children. Noonan Syndrome is a dominant gene pattern. This means that you only have one copy of an alternate gene. If you are diagnosed with Noonan Syndrome you have a 50% chance

with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless

first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. The patient was a 20-year old man with a neck that was webbed; webbing is one of the main symptoms of Noonan syndrome. In 1902 Funke saw a patient with a webbed neck and also micrognathia (undersized jaw), cubitus valgus (elbow deformity), short stature, and also other abnormalities. Another case by means of Ullrich decades later in 1930 of a young girl who had similar deformailites. In 1994 Noonan syndrome was gene mapped to

Overview Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous. Symptoms

won’t even get near you; they are scared as if you could hurt them in any way. Believe it or not there are people who have no choice but to deal with situation everyday. What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this. Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused

Introduction Noonan syndrome, named eponymously for the pediatric cardiologist who first described it, is an autosomal dominant disorder (Gelb and Tartaglia, 2006). It affects 1 in 1,000–2,500 live births with no sex predominance, and is the most common syndromal cause of congenital heart disease, except for Down’s syndrome (Zaras, et al. 2015). This means that in order for the subject to obtain this order, he/she will have to inherit the mutated gene from at least one of their parents. Noonan syndrome causes

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual

autism and Noonan Syndrome. All testing done for this study was characterized as a formal assessment. They were as follows: The Wechsler Intelligence Scale for Children- Revised, Vineland Adaptive Behavior Scales, and Test of Problem Solving skills. For speech and language evaluation specifically, the Clinical Evaluation of Language Fundamentals-Revised was given. (Ghaziuddin, Bolyard, & Alessi, 1994) Wilson and Dyson (1982) targeted speech and language characteristics of children with Noonan Syndrome