Noonan Syndrome Summary

The scope of practice of speech-language pathology describes the ethical and clinical responsibility of clinicians to implement therapy techniques, which contains efficacy that is supported by evidence. Non-speech oral-motor exercises (NSOMEs), in particular have raised controversy among speech-language pathologists (SLPs) and researchers when treating children with articulation and phonological disorders. The use of NSOMEs is a debated issue in the profession due to the lack of evidence based practice (EBP), poor clinical assumptions, and the avoidance of meeting the client’s needs.

The purpose of this evidence based research paper is to evaluate the efficacy of the cycles approach when compared to the traditional articulation therapy approach in the treatment of children who are highly unintelligible. The Cycles Phonological Remediation Approach (Hodson, 2011) is a treatment method for children with severe speech sound disorders. This approach targets phonological pattern errors in a sequential manner. During each cycle, one or more phonological patterns are targeted and after each cycle is complete, another cycle begins. Recycling of phonological patterns continues until the targeted patterns are generalized into the child’s conversational speech. The cycles approach is meant to mirror typical phonological development in children (Hodson, 2011).

Noonan syndrome is a genetic birth defect that results in many physical deformities and possible developmental handicaps. Noonan Syndrome affects male children while Turner Syndrome affects females. This paper will focus solely on Noonan Syndrome, which affects 1 in approximately 2,000 people. Complications include but are not limited to: short stature, widely spaced eyes, some form of heart disease, and stunted puberty or infertility. Noonan syndrome is a biochemical disorder that occurs before a person is born and is formed through the genetic makeup of the parents that result in that of their offspring.

Imagine yourself walking into a grocery store, and having all eyes stare at you in shock. As you continue to walk, they can’t help themselves but stare even more. Most people 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.

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 disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

Noonan Syndrome is a genetic disease caused by a genetic mutation and is developed when a child inherits a copy of an affected gene from a parent with dominant inheritance. Noonan syndrome can also happen with spontaneous mutation. The mutated genes related to Noonan syndrome are PTPN11, SOS1, RAF1, KRAS, NRAS, and

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.

The authors further clarified that early signs of this disability are most commonly seen by the child’s caregiver, thus collaboration with the caregiver becomes imperative when trying to both identify and set goals to overcome the disability. The first thing the authors recommended, in order to get the help for the student, is to encourage the caregiver to have the student hearing checked. This

Authors Denice Michelle Edeal and Christina Elke Glidersleeve-Neumann created a study to determine where speech targets cause and increase treatment sessions in children with Childhood Apraxia of Speech (CAS). To do this they use frequencies for the children so they can produce the require productions for the therapy. This study consisted of two children who have childhood apraxia of speech and they were provided with treatments. They had two different treatments; one child had treatment 3 times weekly for 11 weeks and the other child 2 times weekly for 5 weeks.

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 its host to have abnormal internal and external bodily deformities. These deformities include, but are not limited to, unusual facial defects, heart abnormalities, short stature, delayed puberty among male subjects, sunken or protruding

During on of our PowerPoint presentations, I learned about Parent intervention and the importance of this intervention. Parent interaction with their child with hearing loss is crucial. Language learning in kids is affected by the amount of interaction and quality of linguistic input. Parents are with their child more then a therapist ever will be. So through parent intervention, I child with hearing loss could make significant improvement with spoken language. Parent-led intervention is when the interventionist teaches the parents to use specific language intervention strategies with their children. For us, as the therapist/clinician, we need to remember that parents learn differently then the children we usually teach. Some good teaching

1 Treatment approaches are considered motor-based (traditional) or pattern-based, which are linguistically based and have to do with phonology and distinctive features. Both approaches use behavioral techniques in treatment as the traditional approach treats articulatory motor behaviors and the pattern-based approach helps treat language behaviors as well as misarticulation patterns displayed through use of phonological processes. Rules of phonology and rules of distinctive features cannot be taught as rules. Rather, children learn such rules subconsciously. Differences in treatment approaches are found in case-specific targets of treatment and before and after analysis, not in the actual treatment procedures.

As a matter of fact, speech therapy is indispensable to rise patients’ confident and encourage them to connect with others. Speech and language therapist monitors child’s language by using various methods. For instance, having conversations with patients, pronouncing letters assignments, and blowing balloons to reduce airflow through the child’s mouth. The therapy will continue until they are fully grown and capable to speak clearly.

Even though Flowers’ treatment method is unusual it shows how well it adapts to people of other cultures who represent multicultural linguistic variations. As we learned in class, Speech-Language Pathologist must be aware of dialects and be informed about multicultural people in the United States. As responsible clinicians, we must differentiate between disorders and dialects. Even though the clients that Flowers treated suffered from communication disorders, she was still able to apply her knowledge about a variety of cultures and dialects and treat them efficiently. Another aspect of Flowers’ speech therapy practice is her intend to focus on a specific goal for her clients. Through the model of decision making that was discussed in class lecture, a good decision maker sets specific goals for their clients. Besides being attentive to her clients’ needs, Flowers also conducted research before beginning her institute by learning about dolphins and their effect on children with disabilities. Research is always an essential skill to do because it gives insight into data present and past that informs clinicians on different therapy methods. Last, but not least, Flowers’ method of treatment is innovative which is a skill that we as clinicians need. I found Flowers’ treatment to be of interest because of the innovate method of using animals and humans. Not only is the treatment changing the lives of her multicultural clients, but she is also providing a safe home for dolphins. These are my thoughts on Flowers’ method of therapy through the use of