Genetic Disorders: A Case Study

Autism has a range of diagnostic criteria. This was described by Wing and Gould (1979) as the Triad of Impairments. The triad consists of:

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Wiskott-Aldrich Syndrome (WAS) is a genetic defect characterized by immunodeficiencies and an inability to properly form blood clots. It affects 4 out of 1 million live births worldwide. Patients with WAS show symptoms such as eczema, easy bruising, susceptibility to infection, autoimmune disorders, and in many cases, lymphoma in later stages of life. Wiskott-Aldrich Syndrome was discovered in 1954 by Dr. Robert Anderson Aldrich while examining one of his patients. His findings were similar to that of Dr. Alfred Wiskott, who documented the disease in 1939, but did not know its cause or what the disease was. He noted that the three brothers of the family he studied had WAS, but not the sisters. In 2006, German researchers studied the family members of the brothers from Dr. Wiskott’s documentations and saw that the Wiskott-Aldrich gene was mutated.

Q1. This infant exhibits a genetic defect known as 21-hydroxylase deficiency classical congenital adrenal hyperplasia (CAH), which "is an inherited disorder that affects the adrenal glands" (What is 21-hydroxylase deficiency, 2010, NIH). The female infant in this case study exhibits the 'classic' form of the condition, resulting in ambiguous genitalia. "The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones" (What is 21-hydroxylase deficiency, 2010, NIH). Females with the condition may exhibit male sex traits such hirsutism and pattern baldness as well as irregular menstruation and impaired fertility.

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Mark is a 16 year old male Caucasian single male, approximately 5’6”, 234 pounds which put in him in the obese category. Mark has short curly blonde hair. Mark is Myopic and was prescribed glasses but does not wear them. Mark identifies as a male and is heterosexual. Mark was born in San Diego and has lived in San Diego all his life. Mark primary language is English but he also speaks Spanish. Mark considers himself Catholic but does not attend church. Mark is not currently attending school. Mark last attended Alfred Frederick High School. Mark last grade completed was the 10th grade. Mark has an Individual Education Plan (IEP). Mark’s primary qualifying disability is Other Health Impairment (OHI) and his secondary qualifying disability is

Beth has a few options to determine if her baby is at risk for having a genetic disorder. The first step Beth can take is visiting her gynecologist. While there she can start to discuss her concerns, and go over her options. She can go through genetic counselling and then move onto ultrasounds and amniocentesis. If further tests warrant she can do chorionic villus sampling or CVS.

Diagnosis. The earliest indicators of autism are impairments of verbal and nonverbal communication. A child with autism will have difficulties responding to their name, smiling and making eye contact, babbling or cooing by twelve months, and using single or two word phrases by twenty-four months (NIMH, n.d.). A proper diagnosis of autism spectrum disorder is a two part process. The child is first given a general screening to check for developmental issues. If the child is not making satisfactory developmental progress according to his or her age group, the child would be referred for additional screening. At this stage, the child will need to be screened to check for specific symptoms of autism. The screening can be based solely on the parent’s observation of the

There are more than 10,000 recorded genetic diseases that are passed on through generations affecting millions of people, often with fatal or severely debilitating illness. Scientist worldwide are working to crack the genetic codes to identify genes linked to disease, diagnose abnormalities, and discover new treatment. “The Genetic Disease Foundation is a non-profit 501c (3) organization that established since 1997 by patients and families affected by genetic disorder” (GDF, 2010). The Foundation furnish education programs for everyone and physicians to enhance the knowledge about genetic diseases and the necessity for and availability of testing for many disorders. In addition, the research designed to enhance genetic testing and to find out ways to treat, cure and ultimately avoid genetic disorders. GDF mission is to help prevent and treat genetic disease by supporting research, education and counseling.

Genetics have affected me by researching mutations, heritability, and genetic disorders. It affected me because I always wanted to learn about my heritability. Genetic disorders and mutations, I did them because I, myself have a genetic disorder and mutation. I wanted to learn more about mutations and genetic disorders as much as my heritability. I decided to also research florigene and goldfish because I love flowers and how they change colors, yet I find glofish amusing and wanted learn more about them.

Genetic testing can be beneficial for individuals who want a better understanding of the risk for a specific disease, but if the genetic test is for a legal stance, its benefits can be questionable. For example, a man goes on a trial for a violent murder but his genetic test shows the defendant has a mutation in the monoamine oxidase A (MAOA) gene. His lawyer claims that due to the mutation in the MAOA gene, the man was not able to control his impulses that lead him to have the aggressive behavior. However, the lawyer’s argument could be putting a lot of emphasis on genetics and ignoring other phenomenons such as mutations and polymorphisms interacting with the environment that could exacerbate the elevated level of aggression. Thus, it is important to examine the result of mutation in the MAOA gene to determine the extent that the MAOA mutation is responsible for the defendant’s crimes rather than relying solely on MAOA test results to determine if the suspect is guilty.

Iris’ eyes dilated with terror as she held her newborn. “My baby!” Iris wept. “What’s wrong with my baby?!”

The purpose of this discussion is to talk about the role of a family health nurse in a genetic counseling scenario. I talk about how they want to have kids but are scared to have them because they both carry the genetic disorder for sickle cell

Currently, that we all know the history of syndrome, however would a parent known if their kid has autism? It’s aforementioned that early signs of syndrome could seem within the initial months of life. Many nosologist could easily determine youngsters between the ages of 2 and 3 who could be in danger for autism: lack of happiness, social interaction smile, poor social interactions, a sense for loneliness, lack of acceptable signal like inform and showing objects, bottom that doesn’t matter in world or nonexistent creative play and also the want for identity. Additionally, if a parent witnesses a delay in language development in their kid, this symptom must to never be neglected. Any of those considerations need to prompt a parent to request associate degree analysis. It’s explicit that “Autistic infants tend to stray aloof from others, avoiding bit and become limp or stiff once picked up or help”. (Autism, Aboutourkids.org). These symptoms should to be notified and examined to seek out if the kid has syndrome. The Centers of Disease Control and Prevention has prevalence of autism spectrum disorder. This disorder has increase dramatically over an amount of your time. The question is what causes the increase? Well some researchers say it would be a wrong diagnostic or guidance aren’t doing a good job on that specialize in their children’s abnormal behaviors. In distinction to the rise of this disorder, CDC; Center

A family health nurse is responsible to be a reliable resource when helping clients understand illnesses that are passed down within their family and when conducting genetic counseling (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). In this discussion, I will consider a scenario where I am a family health nurse meeting with a married couple who are both carriers for the genetic disorder of cystic fibrosis. I will review what a genetic counseling session provides, how I took a detailed family history to assess and analyze the potential genetic problems they would have with their offspring, if I would recommend genetic testing for the couple before they have children and if I could facilitate the testing, and discuss some advantages and