A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000 The signs and symptoms of DiGeorge syndrome vary from mild to severe. Symptoms can differ depending on how highly the affected areas are and the severity of those defects. Some signs of symptoms can be noticed at birth, while others are not noticeable until late childhood. Some symptoms caused by DiGeorge syndrome affect facial appearance, such as low set ears, underdeveloped chin, small …show more content…
The deletion of chromosome 22 plays a crucial role in the development of a person. Since the major functions of the body are affected, daily life of someone diagnosed with DiGeorge syndrome has an underdeveloped reading and spelling comprehension. By the ause of low-average spelling and reading cognition, children with DGS have different learning environments in school. Children with this syndrome have to be put in special classes, because they learn on different, slower levels. On the severity of the disorder, some children have special courses and classes in school so they can reach their full potential. Daily life of someone diagnosed with DGS can vary on the criticalness of the disorder (Simon). Daily life of someone affected with DiGeorge syndrome can result in many different variations. Someone with DGS also have high levels of memory loss. Memory loss would include short term activities, such as the past week. Amnesia occurs mostly in children from the age’s three to eleven, and with maturity, people’s memory will strengthen. Since DGS affects major body functions, someone with the syndrome have slowed motor abilities. As a result of slowed motor abilities, people also have low muscle tone with causes them to be inactive. Because of the low muscle tone, DGS makes it difficult for someone to perform normal athletic abilities, such as running. As a result of inactiveness;
The focus of this paper will discuss and define adults with DD (developmental disabilities) ages 18 and older. It will touch bases on how to provide appropriate and affective treatment when dealing with this specific population of individuals. Furthermore, it will discuss different approaches and interventions compared to the use of medication as a form of treatment.
DiGeorge syndrome is a genetic problem due to a defect in the chromosome 22 causing the body systems to be developed poorly. It can result
A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.
Developments in medicine have negatively impacted natural selection by causing an increase in genetic disorders. A genetic disorder can occur for many reasons. Sometimes chromosomes are missing or doubled. In other situations, the genetic code on chromosomes can get altered due to an anomaly when the RNA processes the information. Important information can be deleted, swapped, or completely altered. It is because of these changes in chromosomal DNA that changes in species come about. Genetic disorders are the negative effects of mutations in genes. For example, Sickle-cell anemia is a blood disorder which
Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.
means that the patient has something wrong within their DNA. With it being the DNA sequence,
When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.
Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.
According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface of the brain. Studies have shown that this syndrome is not passed from family history, but the only remedy we can do is to suppress it (Sturge-Weber.org).
What is a genetic disorder? A genetic disorder is a disease Inherited medical condition caused by DNA abnormality. The genetic disorder is caused by change or mutation. The name of this disorder is called autism. Developmental Screening and Comprehensive Diagnostic Evaluation is two types of how it gets diagnosed.
The next disease being discussed, Huntington’s Disease, is a hereditary progressive neurodegenerative disorder that can affect the psyche, emotions, and behavior. However, it is most commonly known for the loss of cognitive functioning as well as motor disturbances (Leffler, 2011). Usually the initial signs of Huntington’s Disease starts with jerky movements that can affect various parts of the body (face, arms, legs, etc.) as well as the gradual beginnings of dementia; the memory is usually impaired. There also may be disorientation, or disillusioned ideas of time, place or identity, as well as personality changes and possible increased agitation. Common neurobehavioral changes include: a tendency to blame others for one’s faults, suspiciousness, impulsiveness, constant complaining, lack of self-control, and lack of
Dyslexia is a lifelong struggle with constant challenges with reading and speaking. About five to ten percent of the United States population deals with the learning disorder dyslexia (Van den Honert, n.d.). It is a neurological condition that is mainly caused by genetics but there are some rare cases in which it is acquired. Dyslexia interrupts the normal processes of reading and speaking (Van den Honert, n.d.). All of which are used in daily life and this makes life and school so much harder for dyslexics. They must learn to live with the condition for their entire life and there is not really a treatment for it. With the constant struggle and reminder of their
Genetic Disorders In Terms of Social Work Practice Social workers deal with a myriad of people who hold irrational beliefs regarding the cause of disabilities present in their children. Educating parents is one of the core responsibilities of a social worker. Often, parents blame each other for the child’s woes or blame themselves for traits that have no bearing on the real cause of the kid’s problem. In this regard, social workers must understand the three types of genetic disorders in order to dispel individual misconceptions and make effective referrals.
DiGeorge Syndrome is a chromosomal disorder caused by a defect in chromosome 22. The syndrome can cause heart defects which then leads to a poor immune system function and while that’s occurring it gives low levels of calcium in the blood. The syndrome also causes altered facial characteristics. There is no known cure but calcium acetate by injection or by mouth. Nothing contributes to the disease. What it is like to live with the disorder is having low-set ears, speech impairment, cleft lip and cleft palate, difficulty thinking and understanding, frequent infections, hearing loss can occur and your body will have hyperactivity, nasal voice, or wide spaced eyes. The syndrome is rare only fewer than 200,000 us cases per year. Mostly affected
The characteristics of a dyslexic person can be very different from one person to the other, just as the characteristics of students without disabilities are different. These students show a different combination of learning problems. “Such characteristics are learning style, motor dexterity, time/math, memory/cognition, language/reading skills, behavior and vision. Sometimes the dyslexic youngster has early or late developmental stages, such as crawling, walking or talking” (Grolier’s).