Rett Syndrome Case Study

Great Essays
Abstract
The purpose of the case study is to formulate an effective comprehensive multidisciplinary way to treat the symptoms of the condition Rett Syndrome. Identify the current consumer data, disease symptoms and medical history, physical, and mental status of the patient. Once all the data and consumer information is compiled then a treatment plan is formulated using the nursing process. The treatment plan focuses on reducing the symptoms of Rett Syndrome, via the appropriate medication for pharmacotherapy, psychosocial therapy, physical and occupational therapy. The overall outcome of this case study is to enhance the quality of life for a patient with Rett syndrome.

RETT Syndrome:
Living with the Disorder and its Treatment.
…show more content…
The regression characteristics presented can be rapid or slow onset. Typically the regression characteristics are loss of purposeful hand movements that resemble washing and wringing of their hands, clapping or tapping, repeated moving of the hands to their mouth, loss of the ability to speak, diminished eye contact, and lack of interest in play. According to The National Institute of neurological Disorders, Apraxia – the inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech (National Institute of Neurological Disorders, 2015). Rett syndrome presents with stages each having its own set of signs and symptoms that may vary from one child to another. According to a Medscape journal, RS progresses through 4 stages: stage 1 developmental arrest (6-18months), stage II rapid deterioration or regression (1-4 years), stage III pseudostationary (2-10 years), and stage IV late motor deterioration (>10 years) (Bernstein and Pataki, 2015). Rett syndrome moves through the series of stages, which explain in detail the signs and symptoms as the disorder progresses varying between mild to severe. According to the Medscape journal on the stages of Rett, the first stage presents with gross motor development delay, disinterest …show more content…
The long-term management and treatment will be for RS symptoms such as agitation and screaming, sleep disturbances, possible monitoring of a gastrostomy tube, Scoliosis monitoring & treatment, as well as possible surgery to corrective the curvature, dietary measures such as high calorie diet, vitamin D, calcium supplements, oral motor assessment and care, as well as physical therapy, and occupational therapy. According to a case study “Parental experiences of scoliosis management in Rett syndrome”, Scoliosis is the most common orthapaedic complication in RTT [3.4] with a median age onset of 9.8 years and about 75% of a population-based sample of girls with RTT affected by the age of 13 years (Ager, Downs, Fyfe, and Leonard, 2009). LS will very likely need monitoring and treatment for scoliosis. Next will be to assess LS’s sign and symptoms to determine what medications she may require to increase her quality of life. According to a Medscape article, no medications are available specifically for the treatment of RS. Agents that may be considered are Antiepileptic drugs for epilepsy (seizures), antireflux drugs for GER, and Sedative-hypnotic drugs (Bernstein and Pataki, 2015). Treatment for LS such as the physical therapy will help her to improve mobility; speech therapy may

Related Documents

  • Decent Essays

    D: PO Summary

    • 359 Words
    • 2 Pages

    PO reports no any biomedical conditions or complication will interfere with treatment, and appears to be in a good physical health. PO reported that he was diagnosed with Dyslexia when he was young, but it will not interfere with treatment. Reported that father’s death resulting in addictive behaver to cope with the grief, and he had been seeing counselor for dealing…

    • 359 Words
    • 2 Pages
    Decent Essays
  • Decent Essays

    • Look for any characteristic of abnormality in shape or features of face and body. • Observe child's behaviour and interaction. If the child is alert, interested in new objects, keen to explore and relates in a friendly manner, a developmental problem is more likely because of an isolated condition rather than global retardation. • Observe growth of child including their head circumference. • Check children patterns of growth in weight, height and head circumference by observing infant health clinic booklet.…

    • 81 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Although muscular function is diminished, cognitive function is unaffected. Currently, there are three types of LIS as described by Bauer; complete or total (quadriplegia and anarthria, no eye movement), Classic (vertical eye movement and blinking), and Incomplete (some voluntary movements are recovered and more eye movements available). Both males and females are equally at risk for Locked-in Syndrome. It can also affect people of any age but mostly adults who are more at risk for strokes and brain bleeding. Sadly, because the disease is so rare, many cases go unrecognized and are misdiagnosed by doctors.…

    • 891 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    COLUMN 2: Behind Column 2

    • 571 Words
    • 3 Pages

    What is the long term outlook? Response to therapy Child’s age and health Tolerance to the medications New developments Could this disorder have been prevented?…

    • 571 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Issue: Beth was 13 years old at the time of the case. Beth had been diagnosed with Rett’s syndrome which is a progressive disorder. In Beth’s case the Rett’s caused Beth to have little motor control such that she was confined to a wheelchair.…

    • 692 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    The Terri Schiavo Case

    • 1369 Words
    • 6 Pages

    The outcome of the surgery was not as promising as he had hoped. She was transferred back to a rehabilitation center in Florida, where they continued the aggressive occupational therapy and neurological testing. Terri could communicate a few words, like “stop”, “no”, and…

    • 1369 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    His daughter visits him every three months. Robert was having dinner with a friend when he developed suddenly dysarthria and left hemiparesis involving face, arm and leg with onset of difficulty in speaking, with drooling from the right side of his mouth, and weakness in his right hand. His symptoms progress over the next ten minutes until he couldn’t lift his arm and had trouble standing. He was unable to walk and also reported a tooth ache on the right side of his mouth, as well as headache in the occipital region of the head. He was taken to the emergency room of the hospital in his area.…

    • 425 Words
    • 2 Pages
    Improved Essays
  • Superior Essays

    The disease requires a lot of medical attention from nurses and medical personnel. Research Purpose The research purpose is to gain an understanding…

    • 1096 Words
    • 5 Pages
    Superior Essays
  • Improved Essays

    Rett Syndrome has no know way to be prevented, because it occurs in the girl’s own body. And because the mutation that occurs this happens rarely there is no way to prevent it. The affected child with Rett Syndrome will need medical assistance for symptoms such as seizures, muscle stiffness, or problems with breathing. And www.webmd.com says that,” It is rare for people with Rett Syndrome to be able to live independently.”…

    • 453 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Celiac Disease

    • 407 Words
    • 2 Pages

    At one year’s old he had problems eating, at two he was not talking, and at three years of age he was having trans like episodes in which his eyes would glaze over, his mouth would move, and he would rock back and…

    • 407 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Marian Chace

    • 570 Words
    • 3 Pages

    Physical Deficits Physical appearance or certain characteristics can be occasionally be a method to distinguish if that someone has DS or not. Yet, not all DS persons look the same. Certain characteristics illustrated by the National Health Service are “below average weight, their palm may have only one crease across, broad hands with short finger, a big space between the first and second toe, a flat back of the head, eyes that slant upwards and outwards, a small mouth with a protruding tongue, a small nose and flat nasal bridge, and reduced muscle tone that results in floppiness.” Plus, those with DS develop at a slower rate in motor skills, than those without DS. This causes infants and children to explore and learn less affecting disturbance…

    • 570 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    There are many signs and symptoms that go with FAS. They are: poor growth while the child is in the womb, decreased muscle tone, poor coordination, and delayed development. Also, there are some heart defects such as, ventricular septal defect, and atrial septal defect. Problems with the child’s face, including narrow and small eyes, small head, and small upper jaws can occur as…

    • 1656 Words
    • 7 Pages
    Improved Essays
  • Superior Essays

    Some of these indications may include language delays, late or unusual crawling, late walking and other abnormal motor behaviors such as rocking or arm flapping. Symptoms that occur during adolescence involves…

    • 1557 Words
    • 7 Pages
    Superior Essays
  • Great Essays

    Essay On Neurodevelopment

    • 1905 Words
    • 8 Pages

    Background Neurodevelopment is defined as “the dynamic inter-relationship between genetic, brain, cognitive, emotional, and behavioral processes across the developmental lifespan [1].” Neurodevelopmental disorders are defined as a group of conditions caused by damage to the neurological development process which cause long term delays in development. These disorders normally begin in infancy, when development is most crucial, and remain fairly consistent throughout adulthood. Neurodevelopmental disorders include but are not limited to the following: autism spectrum disorder (ASD), Rett Syndrome (RTT), developmental coordination disorder (DCD), cerebral palsy, intellectual disabilities (ID), attention-deficit/hyperactivity disorder (ADHD),…

    • 1905 Words
    • 8 Pages
    Great Essays
  • Improved Essays

    Asperger's Syndrome Essay

    • 1736 Words
    • 7 Pages

    Symptoms of the disorder are obvious from infancy. Unlike most children eight to ten month old,…

    • 1736 Words
    • 7 Pages
    Improved Essays