Preview

Noonan Syndrome

Good Essays
Open Document
Open Document
576 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Noonan Syndrome
Prevention for Noonan Syndrome looks slightly different than other disorders, due to the fact that it is genetically linked. With cases of NS being linked to different genetics and some cases having an unknown origin, it is hard to prevent the disorder from occurring. A big factor towards prevention lies in the education of the people closest to the patient, the community, and the general public. A very effective preventive way would be to administer genetic testing to the population in order to increase awareness in the general population and in individuals who possess the gene mutation. This would include coworkers; peers; friends; family; etc., and by doing so the community and its knowledge, awareness, and understanding of NS grows. However, prevention neither starts nor stops at genetic testing. It is …show more content…
It is not surprising that it is easier to distinguish features of NS in an individual while they are young, that is why it is the optimal time and opportunity for diagnosis and intervention. (Turner, 2011). Noonan Syndrome should be contemplated when an individual presents with at least two of the following characteristics: a language or learning delay/difficulty; heart defect/s; short stature; irregularity of the chest structure, and/or facial traits of NS. It should also be noted and taken into consideration if there is a family history of any of these attributes (Turner, 2011). “Almost half of the individuals had a statement of special educational need, and a quarter attended a school for children with learning difficulties. This portion is higher than reported at ascertainment, suggesting that educational difficulties are often not recognized in younger children,” (Shaw et al., 2006,

You May Also Find These Documents Helpful

  • Satisfactory Essays

    Nt1310 Unit 6 Assignment

    • 303 Words
    • 2 Pages

    Also known as Trisomy 21 Small ears Short stature Short little fingers that curve inward Small round heads Attention Deficit Hyperactivity Disorder     …

    • 303 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Paediatrics is the medical science related to the diagnosis and treatment of childhood illness. One of the illness such as Pierre Robin Syndrome (PRS) also called Pierre Robin Complex or Sequence was identified by Pierre Robin a French stomatologist in 1923. That is a facial difference condition with a very small lower jaw (micrognathia or retrognathia) (Figure 1), a normal size of tongue but in the setting of a very small jaw that the tongue looks large tends to fall a downward or backward-positioned toward the throat (glossoptosis)(Figure 2) can act as an obstruction and result in a U-shaped cleft palate presented at birth (birth defect) (Redett, 2008). This malformation development occurs in the womb and approximately one in 8,500 to 14,000…

    • 375 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    Week 2 Quiz BIO

    • 605 Words
    • 8 Pages

    Children born with a small cranium and jaw, a thin upper lip, and palpebral abnormalities, and have a lower than normal IQ demonstrate classic signs of:…

    • 605 Words
    • 8 Pages
    Satisfactory Essays
  • Good Essays

    Guillain Barre Syndrome

    • 830 Words
    • 4 Pages

    Menkes & Sarnat: Child Neurology, 6th ed. USA, Lippincott Williams & Wilkins, 2000 Aicardi, Jean: Clinics in Developmental Medicine: Diseases of The Nervous System in Childhood, 2nd ed. London, Mac Keith Press, 1998 Behrman, Kliegman, Jenson: Nelson Textbook of Pediatrics, 17th ed. China, Elsevier Saunders, 2004…

    • 830 Words
    • 4 Pages
    Good Essays
  • Good Essays

    • Children with visual acuity (no complaints), auditory thresholds and tympanometric curve within normality patterns and cognitive performance within the normal pattern.…

    • 1413 Words
    • 6 Pages
    Good Essays
  • Good Essays

    Unit 14 E4 Cache

    • 433 Words
    • 2 Pages

    | * Hearing problems this is because bones of the middle and inner ear may develop differently in children with the syndrome. * Eye problems, the child may have a squint, their eyes may turn towards the nose/middle and they may need glasses as are usually short sighted or long sighted. * Bone, muscle, nerve, or joint problems * Immune system problems * Developmental delay…

    • 433 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    If a child’s development is not following the expected patterns it is important to implement early intervention to maximize development.…

    • 434 Words
    • 2 Pages
    Satisfactory Essays
  • Satisfactory Essays

    Noonan Syndrome is a genetic disorder that causes a person not to develop properly in various areas of the body. These defects can occur in different areas, such as facial characteristics, heart defects, short stature, development delays and skeletal malformation. Symptoms from those areas can cause a person to have abroad or webbed neck, minor eye problems, abnormal bleeding, an unusual chest shape, which is often seen at birth, and late puberty particularly in males. Many males with Noonan Syndrome suffer from cryptorchidism, due to late puberty which occurs at ages 14-15. Women with this disorder have more complications, when menstruating due to excessive bleeding. Noonan syndrome occurs when changes…

    • 370 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…

    • 354 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Early identification of speech, language and communication delay is extremely important as the chances of improving these skills are greater. Outside agencies can be informed and the child will receive the specialist support they require. If these delays are not identified the child may suffer from lack of confidence, less able to manage their thoughts and will more than likely experience emotional problems. Other aspects of development that will be affected are cognitive, social, emotional and behavioural. For example the child will find it difficult to form a relationship with other children who will then feel angry and could lead to behavioural problems and isolation.…

    • 448 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Child Observation Essay

    • 2586 Words
    • 11 Pages

    The day I observed the child was the day he had speech therapy in a group session. Due to the confidentiality of the other children, the speech therapist was uncomfortable with me attending the speech session with Child N. As per the teachers the child was said to demonstrate consistent errors in speech sound production. One or more of the child’s phonological patterns of sound are at least 40% disordered which makes the conversational intelligibility significantly affected. Some of these errors include distortions, substitutions and omissions. As noted in chapter 8 in the textbook, speech sounds errors are defined as articulation problems. (Heward p.306) At times he becomes over excited and can be perseverative, when he perceives a language task, such as word retrieval. He would become silly by laughing then trying to change the subject. These behaviors occur to some extent as an avoidant mechanism. Child N did attend to and perform better to nonverbal tasks which he has strength in. Task that include piling one block on top of one another or writing the letters of the alphabet. He also demonstrates strength in picture naming. He is able to identify and verbally communicate what a picture is. He didn’t show interest in expressing his thoughts and ideas after story time when a teacher asked what he thought was his favorite part of the…

    • 2586 Words
    • 11 Pages
    Good Essays
  • Satisfactory Essays

    person centred

    • 844 Words
    • 4 Pages

    An acquired disability is a medical condition that you get later on in life they can form from accidents (such as a car crash), illness or working conditions that expose a person to an unhealthy environment. Examples of acquired disabilities:…

    • 844 Words
    • 4 Pages
    Satisfactory Essays
  • Satisfactory Essays

    My specific purpose is to inform my audience about the effects of alcohol on the fetus, the many effects and harms associated with Fetal Alcohol Syndrome, and treatment for fetal alcohol syndrome.…

    • 290 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    The following things would cause concern about a child or young person’s development. If the problem was left untreated then things could get worse, and a delay in treatment could mean that the outcome is not as good as it would have been if treatment was started earlier.1. Speech / Language.If a child or young person does not talk to anyone or even only speaks a few words compared to others, this may cause concern. This would socially affect the child or young person’s because they would find it hard to make friends, work in groups or even interact with adults. It would also affect their communicational development because they would find it hard to speak to people and also may find it hard to listen to instructions etc. Early intervention would be the best way to respond to this concern, the first step would be to…

    • 566 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Sheridan, M., revised and updated by Sharma, A and Cockerill, H.(1997). From Birth to Five Years.…

    • 946 Words
    • 4 Pages
    Good Essays