The benefit of PKU testing outweighs the potential risk. PKU can have devastating effects if not caught early. It is vital that treatment is initiated within the first 72 hours of life. PKU can be effectively managed if caught in time. The implementation of PKU testing has prevented millions of infants from experiencing the effects of intellectual disability and behavior abnormalities. Individuals with PKU can be successfully managed with monitoring of PKU levels and dietary modifications. The testing is cost effective and has high sensitivity and specificity. The estimated cost associated with the treatment of an individual with mental and intellectual disabilities can be millions of dollars. The population screening of metabolic disorders
J. J. is a 12-year-old, independent, type 1 diabetic; diagnosed at 5-years-old. Her experience of being diagnosed was a difficult and almost fatal one. It all started when J. J. got a bad ear infection and had an accident, which was extremely abnormal for her. The doctor put her on amoxicillin, and a week later she came down with a rash. J. J.’s mother brought her the doctor, and he thought it was mono. They did a mono test and the results came back negative, however, the doctor was sure it was mono. He told J. J.’s mother to stop giving her the amoxicillin and that the symptoms would subside. They stopped taking the antibiotic, however, J. J. symptoms got worse. She was frequently thirsty, using the restroom often, sleeping a lot, and would complain of stomach pain. J. J.’s mother said, “my ex and I would ask if the doctors were going to test her blood. None of the doctors did” (personal communication, October 26th, 2016). J. J. went to 4 different doctors before she was in some much pain that she couldn’t move and was throwing up; later that day, she was diagnosed in the Ellensburg’s Emergency Room. J. J.’s mother stated, “the ER doctor walk into the room and immediately said she diabetes, and needs to go to children’s now. The doctor said she could smell the ketones on J. J.’s breath.” (personal communication, October 26th 2016). Ketones are substances that the body creates, when it breaks down fat, instead of carbohydrates for energy. Ketones make the blood
In this chapter of the novel, Steinbeck uses a lot of visual elements, strong dialect,
Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in
BUTLER, PA- Tests showed a troubling amount of lead in the water at Summit Township Elementary School. But, for over five months, the parents of the school’s 250 students were kept in the dark.
“Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen, “ according to U.S. National Library of Medicine. PKU is a rare disorder, that’s detected after birth from newborn screening, and treatment starts promptly, but if not treated promptly, it can lead to severe symptoms. It’s treatable through a diet, symptoms vary from mild to severe like: intellectual disabilities to brain damage. PKU is a treatable disease that involves a diet with low phenylalanine. Its an inherited disease that increases the levels of phenylalanine in the blood. There is a long-term outlook for patients with PKU when it's excellent. Many organizations
Most recent studies have shown that between 1-3 percent of Americans have intellectual disabilities. Many factors are involved with the cause of intellectual disabilities such as physical, genetic and social. A few common genetic conditions are Down Syndrome, Fragile X Syndrome and Prader-Will Syndrome. It is important for maternal mothers to understand that their health is critical to a child's intellectual development and for them to recognize pre & postnatal factors. Maternal Mothers who are exposed to radiation, chronic alcoholism, and severe emotional stress during pregnancy could all be risk factors for intellectual disability. It is critical that parents recognize any intellectual delays in cognitive development at an early onset. Intervention is more effective at an earlier stage of development manly ages 3-4 when child is beginning cognitive and developmental growth. Based on the DSM 5 intellectual disability is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains. Intellectual disabilities is not based on IQ, but on extensiveness of needed support services.
Soon after the child is born, several drops of blood samples would be collected. Additionally, parents’ or legal guardians’ written consent is necessary prior to screening. The consent would include detailed information regarding the testing program, sample storing process, retention, and future research use. According to the bill, legal guardians and parents of a child, or after 18 years, the newborn child would have a chance to request the department not to use the samples for research purposes and/or destroy the samples. The bill would help to determine phenylketonuria, the hereditary and congenital diseases, including, but not limited to, Biotinidase deficiency and cystic fibrosis (AB-170, 2015). The early prevention process would help to determine the causes of intellectual disabilities or physical defects. Furthermore, the process
Layla was chosen as a case study to increase my knowledge on the potential implications of obesity/being overweight, with T1D and whether or not having T1D puts patients more at risk of becoming overweight. Additionally, using Layla as a case study allows me to explore the evidence for other dietary recommendations in Paediatric T1D including carbohydrate counting (CC) which most patients within the BHPDS are now required to be using from diagnosis.
Low phenylalanine containing diet is the first treatment of PKU, and this is applied for all of PKU patients. It has been demonstrated that low phenylalanine concentration in daily meals can effectively prevent mental retardation in PKU patients, especially in newborns (Knox, 1960). The major point of this treatment is to offer PKU patients with very low phenylalanine diets, and all of protein-rich and aspartame containing foods and drinks should be avoided. Aspartame is an artificial sweetener that can be converted into phenylalanine following ingestion, so it must be avoided from the diet of PKU patients (Williams, Mamotte & Burnett, 2008). Since PKU develops very early after birth, this treatment is applied immediately after conformation of the disease in an infant. For older kids, the amount of daily ingested protein is calculated each day regarding how severe PKU of the patient. Although this method can
Approximately one-fourth of all infants born with recognizable defects die before they even reach the age of four weeks (Abel & Sokol, 1986, p. 330). Among those who do survive past the first few weeks, it has been noted that ". . . only a suspicion [of fetal alcohol syndrome) can be raised at this early age" (Aronson & Olegard, 1985, p. 137). Thus, the real impact of fetal alcohol syndrome often cannot be determined until the infant's development has been observed for at least one to two years. Some studies have indicated that the results of tests administered to learning disabled children at the age of three tend to yield similar results to those of tests given to the same children at the ages of ten months and eighteen months (Aronson & Olegard, 1985, p. 143). However, it has also been stated that many of the most serious learning disabilities associated with the syndrome cannot be recognized until after the child has already begun attending school (Abel & Sokol, 1986, p.
Many of us have had the opportunity to observe infants and how they develop through time, whether it is our children, siblings, or just a family friend we can all agree it is extremely interesting to watch children grow. I am currently about 8 months pregnant and I feel it is very important for me to understand how my daughter-to-be will develop. It is important for parents especially to know how a child should grow and mature so they know if their children are on the right track or not. Without knowing how a child is supposed to develop one may never know if their child has a developmental disability or not. The best way to diagnose a developmental disability is the parents
Poseidon or Neptune is the god of the water or aka seas and rivers, creator of storms and flood, also the cause of earthquakes and destruction. Poseidon is one of the three brothers, the two other brothers are Zeus or Jupiter the god of the sky and thunder. Then there is Hades or Pluto is the god of the underworld. Poseidon was probably the most disruptive of all the Greek gods to the mortals and also to Zeus' peaceful reign of Olympus. Poseidon is the son of the Titans Kronos and Rhea. In some Greek mythology Poseidon with the other Gods of Olympus were eaten by the Titan Kronos. But in the war to decide who gets to control the universe (The Titans, Giants, and the Olympians) Poseidon was a major key factor to win that war. On the Olympian's
This is particularly important given the recent increase in the numbers of children diagnosed with
Approaches to the management of a child’s well-being have been influenced by our ever-changing society. In the past, the focus was on the examination for communicable or contagious diseases, but today a clinical care provider is mandated to appreciate the influence of social, economic, and demographic factors on a child’s development and a possible effect on his/her health (Burns et al, 2013). Although we have many assets that can help in assessing the biological function and well-being of pediatric patients, head to toe assessment with medical evaluation remain the most significant part of any health assessment (AAP, 2016). The initial focus of any healthcare providers assessment is the objective and subjective data of the patient. When the
Humankind lives then dies because of two things, wants and needs. We live by fulfilling natural needs and surviving with what we have, but some want more and go beyond what is needed turning a desire into something that is absolutely necessary. These people become obsessed with a concept that’s pointless in the sum of their lives, they let wants control them which results in an untimely death. But this isn't a singular case, numerous men find themselves being lead into a deep and dark pit filled with evil intentions. Some are fortunate enough to find a way out but others aren't as lucky. Macbeth showcases this thought with Shakespeare's main character the Thane of Glamis.