Ho fragile x_syndrome
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Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome. It was first identified in 1943 and the gene causing it, FMR1, was discovered in 1991. It is the most common inherited form of intellectual disability. Symptoms include delayed development, cognitive impairment, anxiety, and other issues. There is currently no cure, but treatment includes therapies. Research shows that autism associated with Fragile X differs from idiopathic autism, and standard autism treatments may not be as effective. The condition is transmitted genetically and can be passed from parents to children.
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Turner syndrome
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Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Autism
Autism is a disorder that affects communication and social interaction. Symptoms include difficulties with speech, making eye contact, social interactions, repetitive behaviors, and sometimes aggression or seizures. While the cause is unknown, studies have investigated potential genetic factors including genes on the X chromosome and chromosome 15. There is no cure for autism, but early intervention with applied behavior analysis, speech therapy, and other treatments can help those with autism to lead more normal lives. Ongoing research seeks to better understand the causes and find new treatment options.
Extra x or y chromosome
Slides to accompany RALLI presentation: An extra X or Y chromosome: a rare cause of language impairment.
see http://www.youtube.com/RALLIcampaign/
Pedigree Charts Powerpoint
A pedigree is a chart that shows the genetic history of a family over multiple generations. It is constructed by a genetic counselor or scientist based on a family's medical history. Pedigrees use symbols to represent individuals and their relationships and health status. Interpreting a pedigree can determine if a condition is autosomal or X-linked based on if it mainly affects males, and if it is dominant or recessive based on whether both parents need to carry the gene. Pedigrees are an analysis tool used to assess disease risk within a family.
Fragile X syndrome
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Fragile x syndrome 2
Nevaeh has been diagnosed with Fragile X Syndrome. Her parents speak little English and do not understand her condition. The teacher asks to explain Nevaeh's needs to her parents and how the daycare can help. Fragile X Syndrome is a genetic disorder caused by a defect on the X chromosome. It causes developmental delays, learning disabilities, and autism-like behaviors. Modifications like visual schedules, preferential seating, and prompting can help children with Fragile X Syndrome in daycare. The Fragile X Research Foundation of Canada provides services and support for families dealing with this condition.
Turner Syndrome
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
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If my presentation was useful for you, you maybe could support me with some donation. Thanks
Paypal: mostafabkh
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Autism
Autism is a disorder that affects communication and social interaction. Symptoms include difficulties with speech, making eye contact, social interactions, repetitive behaviors, and sometimes aggression or seizures. While the cause is unknown, studies have investigated potential genetic factors including genes on the X chromosome and chromosome 15. There is no cure for autism, but early intervention with applied behavior analysis, speech therapy, and other treatments can help those with autism to lead more normal lives. Ongoing research seeks to better understand the causes and find new treatment options.
Extra x or y chromosome
Slides to accompany RALLI presentation: An extra X or Y chromosome: a rare cause of language impairment.
see http://www.youtube.com/RALLIcampaign/
Pedigree Charts Powerpoint
A pedigree is a chart that shows the genetic history of a family over multiple generations. It is constructed by a genetic counselor or scientist based on a family's medical history. Pedigrees use symbols to represent individuals and their relationships and health status. Interpreting a pedigree can determine if a condition is autosomal or X-linked based on if it mainly affects males, and if it is dominant or recessive based on whether both parents need to carry the gene. Pedigrees are an analysis tool used to assess disease risk within a family.
Fragile X syndrome
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Fragile x syndrome 2
Nevaeh has been diagnosed with Fragile X Syndrome. Her parents speak little English and do not understand her condition. The teacher asks to explain Nevaeh's needs to her parents and how the daycare can help. Fragile X Syndrome is a genetic disorder caused by a defect on the X chromosome. It causes developmental delays, learning disabilities, and autism-like behaviors. Modifications like visual schedules, preferential seating, and prompting can help children with Fragile X Syndrome in daycare. The Fragile X Research Foundation of Canada provides services and support for families dealing with this condition.
Turner Syndrome
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
Turner’s Syndrome Project
Turner's syndrome is a genetic condition that affects females and is caused by partial or complete absence of one of the X chromosomes. It occurs in about 1 in 2,500 live female births. Common symptoms include short stature, underdeveloped or absent sexual organs, swollen hands and feet, eye problems, and heart issues. While Turner's syndrome cannot be cured, treatment focuses on hormone replacement, surgery, and lifestyle management to address symptoms and health complications.
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- Clinical genetics provides diagnostic services and genetic counseling for individuals or families at risk of genetic conditions.
- People are referred to clinical geneticists for a variety of reasons, including having a known genetic condition in the family, a child with developmental issues possibly due to genetics, or a strong family history of cancer.
- Genetic screening can be targeted at high-risk individuals based on family history, or conducted more generally on low-risk populations to provide information and reproductive options. Risk calculation and the use of tools like pedigree charts, biochemical tests, and linked DNA markers are discussed.
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This case report describes a 13-year-old female patient with three rare genetic conditions: Trisomy 8, Turner Syndrome, and Triple X Syndrome. She presented with refractive errors, oculomotor dysfunction, and impaired vision information processing. After 27 optometric vision therapy sessions targeting these issues, her visual skills improved to age-appropriate levels. This is the first reported case of a patient with all three syndromes, demonstrating that vision therapy can effectively treat visual problems in individuals with genetic anomalies.
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Fragile X Syndrome
Fragile X syndrome is caused by a mutation on the X chromosome that leads to intellectual disabilities and behavioral issues. Males typically experience more severe symptoms than females, such as mental delays, hyperactivity, and autism. Common physical characteristics for males include large ears and joints, while females struggle more with math and have speech delays. Diagnosis is confirmed via blood tests between ages 3 to 4.
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Cri du Chat Syndrome is a rare genetic disorder caused by a missing part of chromosome 5, which results in a cat-like cry and physical abnormalities such as a downward eye slant and fused toes. Symptoms also include low birth weight, slow growth, and potential delays in motor skills. While there is no cure, treatment focuses on therapies to help patients reach their full potential, such as speech therapy, occupational therapy, and strategies for coping with the syndrome.
Fragile x Syndrome 2.0
Fragile X syndrome is caused by an expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is one of the most common inherited causes of intellectual disability and can also cause physical features like prominent ears and joint flexibility. While there is no cure, treatment focuses on behavioral therapy and education.
Pedigree
This document discusses several key concepts for analyzing inheritance patterns from pedigrees:
1. It describes modes of inheritance like dominant, recessive, sex-linked, mitochondrial, and maternal effects.
2. Rules are provided for determining genotypes of individuals in dominant and recessive pedigrees, including outsider rules.
3. Methods are described for calculating probabilities of offspring phenotypes given parental genotypes using Mendelian genetics.
Fragile x syndrome
Fragile X syndrome is caused by a mutation on the X chromosome that results in failure to produce the fragile X mental retardation protein. It is characterized by a range of developmental problems including cognitive impairment and learning disabilities. Males tend to be more severely affected than females. The condition was first linked to the X chromosome in 1943 and the genetic basis involving expansion of the CGG trinucleotide repeat was discovered in the FMR1 gene in 1991. It is the most common known cause of inherited intellectual disability and a significant cause of autism.
Pedigree analysis, benjamin
This document discusses pedigree analysis and the different modes of inheritance for genetic traits. It begins by defining a pedigree as a pictorial representation of a family history and inheritance of traits. It then discusses the symbols used in pedigrees to represent generations, individuals, and their characteristics. The document goes on to explain autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked traits and provides examples like Tay-Sachs disease, familial hypercholesterolemia, hemophilia, and hypophosphatemia.
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Down Syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in approximately 1 in 800 live births. There are three main types of Down Syndrome - trisomy 21, translocation, and mosaicism. Individuals with Down Syndrome often have characteristic physical features and some degree of intellectual disability. While there is no cure, behavioral training can help those with Down Syndrome and their families manage related frustration and encourage independence. The risk of having a child with Down Syndrome increases with the age of the mother. Genetic counseling and prenatal testing options are recommended for families with risk factors.
Fragile x bio
Fragile X syndrome is a genetic syndrome that is commonly known as the single-gene cause of autism and/or intellectual disability. It occurs when a gene for brain development doesn't work properly, resulting in a range of effects from mild to severe. People with Fragile X syndrome often have physical characteristics like elongated faces and larger ears/testes, as well as stereotypical movements, speech impediments, social/learning difficulties, and occasionally seizures or obsessive compulsive disorder. There is no cure, but treatment aims to minimize symptoms through education, therapy, and medication.
Chapter 9+12 Notes
Gregor Mendel was an Austrian monk who studied heredity through experiments with pea plants in his garden. He discovered the basic rules of genetics, including that traits are passed from parents to offspring and certain traits are dominant over recessive traits. Mendel studied seven observable traits in pea plants and used cross-pollination to determine which traits were dominant. His laws of segregation and independent assortment established that organisms inherit two copies of each gene, one from each parent, and that genes assort independently during reproduction.
Xyy - a genetic disorder
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Heritable Traits in Man, Pedigree Analysis and Pedigree Application
This document discusses several heritable human traits and their patterns of inheritance:
- Handedness is inherited as a dominant trait with right-handedness dominant over left-handedness. Some traits like naturally curly hair and widow's peak hairline also follow this pattern.
- Allergies have a genetic component and children of parents with allergies have an increased chance of also having allergies.
- Colorblindness is sex-linked and inherited through a recessive X-chromosome gene, so it is more common in men.
- Pedigree charts are used to analyze inheritance patterns and determine if a trait is dominant, recessive, sex-linked, and the probability of it
Down syndrome 2018
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Pedigree chart by mehedi hasan
in this ppt i tried to show how to draw pedigree chart , sorry for my mistakes., everything given are taken from internet,
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This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
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This document discusses the diagnosis of Fragile X syndrome through methylation-sensitive PCR (MS-PCR) testing. It provides background information on the characteristics, inheritance, and FMR1 gene mutation associated with Fragile X syndrome. It then describes the MS-PCR diagnostic method, which analyzes both the methylation status of the FMR1 promoter region and the number of CGG repeats to determine if a sample is normal, a premutation, or has a full mutation associated with Fragile X syndrome. The document concludes by validating the MS-PCR method against the gold standard Southern blot technique.
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Turner's syndrome is a genetic condition that affects females and is caused by partial or complete absence of one of the X chromosomes. It occurs in about 1 in 2,500 live female births. Common symptoms include short stature, underdeveloped or absent sexual organs, swollen hands and feet, eye problems, and heart issues. While Turner's syndrome cannot be cured, treatment focuses on hormone replacement, surgery, and lifestyle management to address symptoms and health complications.
Risk calculation in Medical Genetics
- Clinical genetics provides diagnostic services and genetic counseling for individuals or families at risk of genetic conditions.
- People are referred to clinical geneticists for a variety of reasons, including having a known genetic condition in the family, a child with developmental issues possibly due to genetics, or a strong family history of cancer.
- Genetic screening can be targeted at high-risk individuals based on family history, or conducted more generally on low-risk populations to provide information and reproductive options. Risk calculation and the use of tools like pedigree charts, biochemical tests, and linked DNA markers are discussed.
Trisomy 8, Turners syndrome, Triple X: A Case Report
This case report describes a 13-year-old female patient with three rare genetic conditions: Trisomy 8, Turner Syndrome, and Triple X Syndrome. She presented with refractive errors, oculomotor dysfunction, and impaired vision information processing. After 27 optometric vision therapy sessions targeting these issues, her visual skills improved to age-appropriate levels. This is the first reported case of a patient with all three syndromes, demonstrating that vision therapy can effectively treat visual problems in individuals with genetic anomalies.
Down syndrome update 2014
Down Syndrome Update provides an overview of Down syndrome including its history, genetics, features, and recent research. It summarizes that Down syndrome is caused by trisomy 21 and describes the essential information that should be conveyed when delivering a diagnosis, such as the genetic basis, physical features, medical complications, intellectual disability, long-term prognosis, and support resources. Recent studies discussed include identifying the most important information for parents, social conditions of people with Down syndrome in Denmark, and the establishment of the US National Down Syndrome Registry called DS-Connect.
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This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.
Fragile X Syndrome
Fragile X syndrome is caused by a mutation on the X chromosome that leads to intellectual disabilities and behavioral issues. Males typically experience more severe symptoms than females, such as mental delays, hyperactivity, and autism. Common physical characteristics for males include large ears and joints, while females struggle more with math and have speech delays. Diagnosis is confirmed via blood tests between ages 3 to 4.
Presentation1
Cri du Chat Syndrome is a rare genetic disorder caused by a missing part of chromosome 5, which results in a cat-like cry and physical abnormalities such as a downward eye slant and fused toes. Symptoms also include low birth weight, slow growth, and potential delays in motor skills. While there is no cure, treatment focuses on therapies to help patients reach their full potential, such as speech therapy, occupational therapy, and strategies for coping with the syndrome.
Fragile x Syndrome 2.0
Fragile X syndrome is caused by an expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is one of the most common inherited causes of intellectual disability and can also cause physical features like prominent ears and joint flexibility. While there is no cure, treatment focuses on behavioral therapy and education.
Pedigree
This document discusses several key concepts for analyzing inheritance patterns from pedigrees:
1. It describes modes of inheritance like dominant, recessive, sex-linked, mitochondrial, and maternal effects.
2. Rules are provided for determining genotypes of individuals in dominant and recessive pedigrees, including outsider rules.
3. Methods are described for calculating probabilities of offspring phenotypes given parental genotypes using Mendelian genetics.
Fragile x syndrome
Fragile X syndrome is caused by a mutation on the X chromosome that results in failure to produce the fragile X mental retardation protein. It is characterized by a range of developmental problems including cognitive impairment and learning disabilities. Males tend to be more severely affected than females. The condition was first linked to the X chromosome in 1943 and the genetic basis involving expansion of the CGG trinucleotide repeat was discovered in the FMR1 gene in 1991. It is the most common known cause of inherited intellectual disability and a significant cause of autism.
Pedigree analysis, benjamin
This document discusses pedigree analysis and the different modes of inheritance for genetic traits. It begins by defining a pedigree as a pictorial representation of a family history and inheritance of traits. It then discusses the symbols used in pedigrees to represent generations, individuals, and their characteristics. The document goes on to explain autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked traits and provides examples like Tay-Sachs disease, familial hypercholesterolemia, hemophilia, and hypophosphatemia.
Downs syndrome
Down Syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in approximately 1 in 800 live births. There are three main types of Down Syndrome - trisomy 21, translocation, and mosaicism. Individuals with Down Syndrome often have characteristic physical features and some degree of intellectual disability. While there is no cure, behavioral training can help those with Down Syndrome and their families manage related frustration and encourage independence. The risk of having a child with Down Syndrome increases with the age of the mother. Genetic counseling and prenatal testing options are recommended for families with risk factors.
Fragile x bio
Fragile X syndrome is a genetic syndrome that is commonly known as the single-gene cause of autism and/or intellectual disability. It occurs when a gene for brain development doesn't work properly, resulting in a range of effects from mild to severe. People with Fragile X syndrome often have physical characteristics like elongated faces and larger ears/testes, as well as stereotypical movements, speech impediments, social/learning difficulties, and occasionally seizures or obsessive compulsive disorder. There is no cure, but treatment aims to minimize symptoms through education, therapy, and medication.
Chapter 9+12 Notes
Gregor Mendel was an Austrian monk who studied heredity through experiments with pea plants in his garden. He discovered the basic rules of genetics, including that traits are passed from parents to offspring and certain traits are dominant over recessive traits. Mendel studied seven observable traits in pea plants and used cross-pollination to determine which traits were dominant. His laws of segregation and independent assortment established that organisms inherit two copies of each gene, one from each parent, and that genes assort independently during reproduction.
Xyy - a genetic disorder
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Heritable Traits in Man, Pedigree Analysis and Pedigree Application
This document discusses several heritable human traits and their patterns of inheritance:
- Handedness is inherited as a dominant trait with right-handedness dominant over left-handedness. Some traits like naturally curly hair and widow's peak hairline also follow this pattern.
- Allergies have a genetic component and children of parents with allergies have an increased chance of also having allergies.
- Colorblindness is sex-linked and inherited through a recessive X-chromosome gene, so it is more common in men.
- Pedigree charts are used to analyze inheritance patterns and determine if a trait is dominant, recessive, sex-linked, and the probability of it
Down syndrome 2018
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Pedigree chart by mehedi hasan
in this ppt i tried to show how to draw pedigree chart , sorry for my mistakes., everything given are taken from internet,
Edward syndrome
This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
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Similar to Ho fragile x_syndrome
Fragile x Syndrome
Fragile X syndrome is caused by the expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is the most common inherited cause of intellectual disability and can also cause autism spectrum disorder. While there is no cure, treatment focuses on behavioral therapy and special education.
Autism spectrum disorder
Autism spectrum disorder is a neurodevelopmental condition characterized by impairments in social communication and restricted, repetitive behaviors. It is a highly heritable and heterogeneous condition. The document discusses the history of autism, epidemiology, etiology including genetic and environmental factors, clinical features, diagnosis, and treatment. Autism is typically diagnosed by age 2 and is more common in boys than girls. While the exact causes are unknown, both genetic and environmental factors are thought to play a role in its development.
Fragile x final
Fragile X syndrome is a genetic disorder caused by a change in the FMR1 gene on the X chromosome. It is the most common cause of inherited intellectual disability. Boys are more likely to be affected than girls due to males only having one X chromosome. Symptoms can include cognitive impairment, behavioral issues like hand flapping, and physical features such as a long face and flexible joints.
Fragile x syndrome
Fragile X syndrome is caused by a mutation on the FMR1 gene that prevents production of the FMRP protein. Males are more commonly affected and exhibit characteristics like prominent ears, long face, delayed speech, enlarged testes, and autism-like behaviors. Females may show fewer symptoms, with about half having normal intelligence. While there is no single cure, early intervention through education, therapy and medication can help those with Fragile X develop their skills and capabilities.
Fragile X Syndrome (FXS)
The overview and the description of overall pathology of Fragile X Syndrome. Also, explaining the genetic aspect of the mutation.
Put to the test as genetic screening gets cheaper and easier,.docx
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-
care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic
testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were
having children at older ages, with resulting difficulties and risks. More and more parents faced
challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they
received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated
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anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--
was surprisingly painful. At least genetic counselors and other professionals were available to help guide
us.
By that point, amniocentesis had been in wide use for more than two decades. As researchers identified
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affluent communities began to embrace genetic testing. A small but lucrative market in assisted
reproductive technologies quickly emerged, which provided parents with greater control over the
genetic characteristics of their offspring. In some parts of America, new diagnostic technologies
provoked unease regarding their eugenic potential.
In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk
constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in
miscarriage, which made the procedure too risky to justify screening the full population of pregnant
women. The human genome had yet to be sequenced. Newborn screening was routinely used to
identify a handful of important metabolic disorders, but it was a very expensive process. There was a
certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions
associated with very serious physical or intellectual disabilities. When such conditions were detected,
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Fast forward to 2010. Prospective parents can now be tested before pregnancy, and those found to be
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tested for genetic markers associated with Alzheimer's disease, hemophilia, muscular dystrophy, Tay-
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Revista ingles
The document summarizes recent discoveries about autism. It discusses that autism is more commonly diagnosed today, affecting 1 in 88 individuals. It also mentions that autistic individuals have higher levels of growth hormones, which may explain their larger head circumference. Additionally, research suggests autistic people are less concerned with what others think of them and have greater ability to process information compared to others. The document also notes some autistic children have distinctive facial features and premature babies have a higher risk of developing autism. Finally, it proposes some autism genes may have provided advantages for hunting and gathering in the past.
Genetics Case: Mary & Charles
Mary and Charles are an African American couple seeking genetic counseling before the birth of their baby. Mary and her brother Glen both have profound deafness and enlarged vestibular aqueducts, possibly indicating Pendred syndrome. Charles' deafness is due to meningitis. Pendred syndrome is an autosomal recessive condition causing deafness, goiter, and inner ear abnormalities. Genetic testing of Mary, Glen, and their families can help determine if they have Pendred syndrome and counsel them on implications.
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General Psychology
: Interpret an instance of behavior (individual or collective) recently in the news from the point of view of any two of the three schools of thought that became popular when psychology emerged as a discipline. Your response should include specific details including the major theorists and goals of the two selected schools of psychological thought. Your response should be at least 200 words in length. You are required to use at least your textbook as source material for your response. All sources used, including the textbook, must be referenced; paraphrased and quoted material must have accompanying citations. Wade, C., Tavris, C., & Garry, M. (2014). Psychology (11th ed.). Upper Saddle River, NJ: Pearson Education. Must be done in APA format
ONE PAGE /275 WORDS ONE SOURCE BOOK REFERENCE
[1/29/16, 11:29 AM] josphat mungai (
[email protected]
):
Author: R.A. Noe
Employee training and development (6th ed.). New York, NY: McGraw-Hill
2:General Psychology
: A researcher hypothesizes that adults will respond differently to the same baby depending on how the child is dressed. Her colleague, on the other hand, hypothesizes that boys and girls are treated equally and that only temperamental differences lead to differences in their handling. Design a research study to test their hypotheses. Your response should be at least 200 words in length. You are required to use at least your textbook as source material for your response. All sources used, including the textbook, must be referenced; paraphrased and quoted material must have accompanying citations. Wade, C., Tavris, C., & Garry, M. (2014). Psychology (11th ed.). Upper Saddle River, NJ: Pearson Education. Must be done in APA format
ONE PAGE /275 WORDS ONE SOURCE BOOK REFERENCE
[1/29/16, 11:29 AM] josphat mungai (
[email protected]
):
Author: R.A. Noe
Employee training and development (6th ed.). New York, NY: McGraw-Hill
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were having children at older ages, with resulting difficulties and risks. More and more parents faced challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--was surprisingly painful. At least genetic counselors and other professionals were available to help guide us.
By that point, amniocentesis had been in wide use for more than t.
Autism presentation
Autism is a chronic disorder characterized by impaired social relationships and communication, lack of imagination, and repetitive behaviors. It affects 4 in 10,000 infants and boys more often than girls. Symptoms include lack of social responsiveness, language and communication difficulties, need for sameness and routines, and repetitive behaviors. Brain studies show autistic individuals have larger than average brains reflecting abnormal growth, as well as abnormalities in the cerebellum, cortex, brain stem and other areas. While the specific causes are unknown, autism has a biological basis involving genetic and environmental factors that occur prenatally.
Essential Genetics for Obstetricians
Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unravelling of the entire draft sequence of the human genome. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders as treatment in most cases is difficult or impossible and where available beyond the means of most families. Genetic technology is advancing rapidly, bringing new, safer and more sensitive ways to diagnose genetic conditions pre- and postnatally. These advances will bring about profound changes in the way we deliver obstetric services to women and their families. Diagnosing a genetic disorder not only allows for disease-specific management options but also has implications for the affected individual's entire family. Hence, a working understanding of the underlying concepts of genetic disease is important for all practicing clinicians. Although it is impossible to know all aspects of clinical and molecular genetics, basic knowledge of certain topics is a must for all practicing obstetrician/gynecologists.
Asperger Syndrome nursing assignment tutor.docx
This document provides an overview of Asperger Syndrome, including its diagnostic criteria, prevalence, challenges faced by individuals, and treatment approaches. Some key points:
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Autism Spectrum Disorder Term Paper
The document provides information about Autism Spectrum Disorder (ASD) including:
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- Disorders included in the autism spectrum are Autistic Disorder, Asperger's Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified.
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Ho fragile x_syndrome
- 1. Jacquelin Ho Period 2 April 7th , 2014 FRAGILE X SYNDROME
- 2. Introduction History: 1943 Martin/Bell discover X-linked form of mental retardation, 1969 Herbert Lubs develops chromosomal test to identify Fragile X, 1991 FMR1 gene causing Fragile X syndrome is discovered (World, 2012). Current presence: 1 in 250 females and 1 in 800 males carry the mutation, and it affects all ethnic groups (Hagerman et al., 2004) According to the US National Library of Medicine (2012), Fragile X Syndrome is a mutation affecting the X chromosome. The mutation involves abnormally high amounts of the repeat of CGG in the FMR1 gene: 55-200 repeats: carrier >200: full mutation, FMR1 ceases to function (Hagerman P., Hagerman R., 2004) It is known as the most common form of inherited mental retardation.
- 3. Symptoms and Treatment - Normal at birth - Delayed development - Mental impairment - Attention deficit or hyperactivity - Frequent ear/sinus infections - Nearsightedness - Lazy eye - Seizures Treated with: - Speech, occupational, or physical therapy Currently no cure (Sherman et al., 2005) http://jmg.bmj.com/content/39/3/200/F1.large.jpg
- 4. Prevention and Inheritance Females can only inherit Fragile X from either parent. Males can only inherit the Fragile X gene from their mother. Fragile X is a mutation associated with the X chromosome. Men carrying pre-mutations of Fragile X are usually stable (Sherman et al., 2005). Males affected by Fragile X espoused to healthy females will have carrier daughters and healthy sons. Females carriers espoused to healthy males may have affected sons. (See Figure on right) http://upload.wikimedia.org/wikipedia/commons/a/a3/XlinkRecessive.jpg
- 5. Personal Reflection Like many other mental disorders, people affected by Fragile X syndrome are at risk of aggression, emotional instability, and autism. Though there is currently no cure, various support programs are available for those diagnosed with Fragile X and family members and caretakers of the affected individual. Fragile X is surprisingly common, even more so considering how many people affected or carrying it are unable or simply choose to not reproduce and avoid the risk of passing the disorder on to their children. In researching Fragile X, I was moved by words of advice and the optimistic outlook of mothers caring for their autistic children. A strong bond of fellow caretakers has developed across the internet. General themes that appear in their stories include perseverance and unconditional love.
- 6. Article Analysis Though autism is a common symptom for those with Fragile X, new studies show that the autism associated with Fragile X differs from what is normally observed. Young autistic boys with and without Fragile X were observed in a recent test study. Those with Fragile X tended to be more interested in social contact though ended up shying away due to anxiety. This study also shows why normal treatment for autism has shown to not be as affective in the case of Fragile X autism. Wright, J. (2014, March 21). Clinical research: Symptoms of fragile X, autism diverge. Simons Foundation Autism Research Initiative. Retrieved April 7, 2014, from https://sfari.org/news-and- opinion/in-brief/2014/clinical- research-symptoms-of-fragile- x-autism-diverge
- 7. References Fragile X syndrome. (2012, April 12). In World of Genetics. Gale. Retrieved from http://ghr.nlm.nih.gov/condition/fragile-x-syndrome Hagerman, P., & Hagerman, R. (2004, August). National Center for Biotechnology Information. Retrieved April 6, 2014, from http://www.ncbi.nlm.nih.gov/pubmed/15052536?dopt=Abstract Sherman, S., Pletcher, B., & Driscoll, D. (2005 October). Result Filters. National Center for Biotechnology Information. Retrieved April 6, 2014, from http://www.ncbi.nlm.nih.gov/pubmed/16247297? dopt=Abstract