How is Fragile X Syndrome Inherited? Genes are a huge part of DNA that are passed from generation to generation. There are many genes on each chromosome; we have tens of thousands of genes that tell or bodies on how to develop. Genes are given letters to identify them. The gene responsible for fragile X syndrome is called FMR1. The FMR1 Gene is on the X chromosome. The FMR1 gene appears in four forms that are shown by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 45 CGG repeats have a normal FMR1 gene. Those with 45-54 CGG repeats have what is called an “intermediate” or “grey zone allele,” which does not cause any of the known fragile X associated disorders. Individuals with 55-200 CGG repeats have
d how routine data collected in health and social care informs the planning of care for individuals 3.1 Explain the recordings and use of routine measures in health and social care In health and social care recordings and use of measures are a vital signs for determine a patients state of health.
Patients would tell the doctor exactly what illness afflicted them and what the treatment was. The issue with self-diagnosing is that patients don’t know how to interpret the information they have. Doctors undergo years of education and training to get their degrees. Proper training enables doctors to understand the information that they have and make an informed diagnoses. When patients self-diagnose, they interrupt the doctor’s thought process and ultimately waste the doctor’s time. At Mercy Urgent Care, time is valuable and there are many patients to see. Self-diagnosing is a substantial issue at Mercy Urgent Care and many other
The Centers for Disease Control and Prevention (CDC) states that 1 in 68 children are diagnosed with an autism spectrum disorder (ASD): There is a variety of physical and behavioral conditions that frequently co-occur with ASD. Caregivers and practitioners interested in learning more about autism and co-occuring conditions can take
ragile X; 1. Provide a description of the disability and its causes. Include any relevant information such as statistics and diagnosis procedures. Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most
A patient’s past health history may provide insight into causes of current symptoms. It also cues the nurse to certain risk factors for disease. A past health history includes childhood and adult illnesses, chronic health problems and treatment, and previous surgeries or hospitalizations (Lippincott et al.,2014).
Americans today are faced with a number of health issues, mainly as a result of poor diet, lack of exercise, and lifestyle choices; but, of course, genetics does play a part. My family, for example, has a history of several issues. My father suffers from diabetes and asthma, which my children have as well. My older sister and I both suffer from stress, which is most likely causing our chronic heartburn and my headaches; and, both my husband and I are borderline obese, which is a gateway disease to many others. While some of these issues are linked genetically, many of them are due to lifestyle, which can be viewed as both negative and positive. Negative because we brought these ailments onto ourselves, but positive because we can
National Women History Month March is Women History Month. This year, 2018, is very significant in term of women history of the US. Women's March in 2017 drew about 3 million people from all walks of life in the US but more in the world. This year’s #MeToo movement spark the women from all over the country to come forward and tell their stories. The stories of abuses, the stories of hope and the stories of dreams.
Fragile X is a genetic condition that causes a variety of physical, social, and intellectual disabilities. Affected children experience developmental setbacks such as taking longer to sit, walk, or talk in contrast to other of a similar age group. Affected people show certain symptoms, in childhood and as they grow into adults, and through adulthood. Behavioral and neurological symptoms of Fragile X syndrome can include stuttering, anxiety, impulsiveness, seizures, depression, disorganized speech, balance problems, intellectual and learning disabilities, hyperactivity, attention difficulties, and social issues. Numerous people with Fragile X syndrome can also experience physical abnormalities. These can
Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,
Abstract The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to Fragile
Differential diagnoses are developed by a clinician upon learning of the chief complaint. One must begin to develop the possibility of potential diagnoses mentally to guide the care provided to the patient. These potential diagnoses are developed by the care provider and are often based on one’s past clinical experiences, awareness of the illness and a clear understanding of the patient’s complaint (Goolsby & Grubbs, 2014). The care provider with experience may develop these diagnoses independently and others with less experience may utilize evidence-based resources and clinical guidelines to aid in this process (Goolsby & Grubbs, 2014). The process for reaching a final diagnosis requires further investigation and use of physical assessment
Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).
During the 18th and 19th century, patriarchy has been responsible for designing women’s role in society. Throughout history, men have been deemed as superior while women have been regarded as inferior. Society has this ideology that women are the sole laborers of a household; they were not granted the same privileges as men. In addition, women have been negatively affected by stereotyping. Women have been portrayed on television as being submissive to men. The depiction of women on television portrays the implications of a societal view of women. From a man's perspective, an ideal woman is a housewife who does all the household duties herself. However, over the years, studies have shown that gender roles have slowly advanced. Women began
A couple weeks before the presentation was held, the group which consists The data are collected from observation of over 100 patients’ visits, 50 of which were observed and audio taped. The research questions that are asked by Davidson are: