Congenital Disorders With Intellectual Disability

Chapter 6 starts by telling the story of Lauren who has Down syndrome and defining intellectual disability. Intellectual disability in the chapter has multiple definitions and one is that it is define as a disability characterize by both intellectual functioning and adaptive behavior such as, social and adaptive skills. To classify and a person with intellectual disability you need to look at various dimension of human functioning, which are intellectual abilities, adaptive behavior, health, participation and context. There are still many challenges on to what the definition of intellectual is and how to measure intellectual disability. There has been many test n to measure the student’s intelligence, but it can be very controversial. Issues

Child is a gift from God. Every parent hopes for a healthy child. However, abnormalities in the fetus growth becoming common nowadays. These may be due to physical, radiation and chemical factors. These factors will cause deformities such as genetic mutation which causes mental retardation, abnormal body buildup and other conditions which bring a lot of troubles in the future to the child themselves and their parents. Modern technologies and innovations in the medical field had developed a method to detect the abnormality before delivery and prevent this future tragedy to happen. This method is known as prenatal screening. There are several advantages and disadvantages of prenatal screening.

Hypothyroidism, while a common disorder, is often misdiagnosed due to its ability to mimic other common health problems. A simple, yet specialized blood test, coupled with a complete medical history, will allow the experts at RCMC Medical Center to not only diagnose the problem in a timely manner, but also develop a treatment plan based on the results, and your personal lifestyle, with the end goal of returning you to the level of health and wellness you

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in language, mobility, learning, self-help, and independent living. Developmental disabilities are usually identified early in childhood and will probably persist throughout the individual’s lifespan.

Critical Congenital Heart Defect (CCHD) is a subgroup of congenital heart defects that normally necessitates surgical intervention or catheterization procedure during the neonatal period (Good, Canale, Goodman, & Yeager, 2015). According to Mahle et al. (2009), although there are measures taken to detect CCHD like prenatal ultrasound and comprehensive newborn physical examination during newborn’s birth hospitalization, there is still a significant percentage of newborns with CCHD that is left undetected and discharged home without being diagnosed. Delay in diagnosis of CCHD increases morbidity and mortality (Mahle et al., 2009). In response to this, Riede et al. (2010) mentioned that the diagnostic gap in CCHD could be bridged by screening newborns using pulse oximetry

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

When looking at my genogram, I see a strong genetic presence. Hypothyroidism has been diagnosed in my father, my grandmother on my mom’s side, my mother, all three of my mother’s sisters, one female cousin on my mom’s side, and me. This being said, all adult females on my mother’s side are diagnosed with hypothyroidism. Each of them were diagnosed in their adulthood, where as I was diagnosed at the age of 5. I believe that the early onset was in association with my Type 1 Diabetes. However, it seems to me that there is a clear genetic disposition running in my family. By analyzing my familial, I have concluded that the younger females in my family are also at high risk of developing hypothyroidism at some point in their

This requires the administration of a heel-prick test in the nursery home or within 7 days of birth. The blood sample will be screened for all disorders (phenylketonuria, congenital hypothyroidism, sickle cell disease and cystic fibrosis, Duchenne muscular dystrophy, and Krabbe). Adopting this option would provide an opportunity for earlier detection and treatment of the disease. However, there is a chance for false-positive results as well as the added costs. There is also the ethical dilemma of patient autonomy and free-will.

According to one study found, this disease is seen more often in people between the ages of 45 to 65 years old.2 Another epidemiologic study also showed a female predominance of 10:1 to 20:1, and that the disease is more commonly seen in women rather than men.2, 5 During this study, 102 families were chosen to be observed and were made up of 540 individuals to determine if there is a significant genetic component to Hashimoto thyroiditis.5 While a high percentage of adults who had an autoimmune disorder such as trisomy 21 or Turner syndrome showed greater risk for having Hashimoto thyroiditis, a small group of about 20 percent had an indistinguishable clinical hypothyroidism much different from Hashimoto thyroiditis.5 Finally, an analyses of genome linkage in families with Hashimoto thyroiditis showed evidence that some loci, like chromosomes 6p and 12q, could be harboring genes that are already linked to this

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

Since the recommendation for Newborn Screening for CCHD Screening, several states have implemented it, and various studies have been conducted to verify its outcome. According to a study done by Good et al. (2015), 13.3 per 100,000 live births have undetected CCHD. The studies that were done by Garg et al. (2013) and Good et al. (2015) prove that CCHD screening utilizing pulse oximetry is effective in improving early detection of newborns with

According to the journal, one of the most common result of birth defect on the baby is low birth-weight. This occurs due to the nutritional deprivation of the mother, this not only affects the baby in many ways but also creates threats and makes the subsequent babies prone to many non-communicable diseases. These kind of kids, tend to have delayed development and high risk of sickness. Apart from this, birth defects also cause problems like several heart diseases, one of them being congenital heart disease. In which case, the infant is born with a hole in the heart. In this case, the baby tends to have a delay in the brain development process, also sometimes experiencing problems of rapid breathing and tiredness. They also have poor blood circulation

Several chronic maternal medical conditions, including diabetes mellitus, hypertension, connective tissue disorders, and congenital heart disease confer an increased risk of CHD in the offspring. (3)

Premise one states that a fetus is not a human being physically. The most fundamental difference is that a fetus is totally dependent on a woman's body to survive. In order to be classified as a human, by definition, they have to be separate individuals. Being inside a woman does not make it a separate individual. A fetus does not gain the status of human being simply by living inside the body of a human being. Also, being a normal human being implies a physical body of a certain size/shape with common attributes with the exception of disabilities. A fetus, however, especially in the early stages does not even look recognizably human. In fact at early stages a fetus could look indistinguishable to a dog or pig fetus. The fetus cannot do