Fragile X Syndrome
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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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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.
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.
Fragile X presentation
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Fragile X syndrome
The two brothers presented with moderate to severe developmental delays and were referred to the hospital for evaluation. They exhibited features such as long square faces, prominent ears, hyperactivity, poor attention spans, and mental retardation. Their mother's aunt also displayed mental retardation. A diagnosis of fragile X syndrome was suggested due to the familial inheritance pattern and common features presented. Fragile X syndrome is caused by a mutation in the fragile X mental retardation 1 (FMR1) gene, specifically the expansion of the CGG repeat sequence in this gene beyond normal limits. Prenatal diagnosis can be done via analysis of DNA from fetal tissue samples to detect the CGG repeat expansion.
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.
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
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.
Why Fragile X syndrome
This document discusses Fragile X syndrome, the most common inherited form of intellectual disability. It is caused by an expansion of CGG repeats on the X chromosome, which inactivates the FMR1 gene and prevents production of the FMRP protein needed for normal brain development. Symptoms include intellectual disability, physical and behavioral issues. Diagnosis involves genetic testing to detect the number of CGG repeats. While currently incurable, interventions focus on speech, occupational, and behavioral therapies from early childhood through school age. Recent studies found minocycline improved behaviors in children with Fragile X.
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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.
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.
Fragile X presentation
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Fragile X syndrome
The two brothers presented with moderate to severe developmental delays and were referred to the hospital for evaluation. They exhibited features such as long square faces, prominent ears, hyperactivity, poor attention spans, and mental retardation. Their mother's aunt also displayed mental retardation. A diagnosis of fragile X syndrome was suggested due to the familial inheritance pattern and common features presented. Fragile X syndrome is caused by a mutation in the fragile X mental retardation 1 (FMR1) gene, specifically the expansion of the CGG repeat sequence in this gene beyond normal limits. Prenatal diagnosis can be done via analysis of DNA from fetal tissue samples to detect the CGG repeat expansion.
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.
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
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.
Why Fragile X syndrome
This document discusses Fragile X syndrome, the most common inherited form of intellectual disability. It is caused by an expansion of CGG repeats on the X chromosome, which inactivates the FMR1 gene and prevents production of the FMRP protein needed for normal brain development. Symptoms include intellectual disability, physical and behavioral issues. Diagnosis involves genetic testing to detect the number of CGG repeats. While currently incurable, interventions focus on speech, occupational, and behavioral therapies from early childhood through school age. Recent studies found minocycline improved behaviors in children with Fragile X.
Fragile x syndrome
Fragile X Syndrome is an inherited genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from producing the Fragile X Mental Retardation Protein (FMRP), which is important for brain development. Individuals with over 200 CGG repeats on the FMR1 gene have a full mutation that causes Fragile X Syndrome. Symptoms include physical, behavioral, cognitive, and learning deficiencies such as motor/speech delays, hyperactivity, poor reasoning skills, and difficulty with cause and effect. Treatments focus on educational and behavioral interventions to improve social skills, intellectual ability, and adaptive functioning through programs like occupational therapy and specialized medication.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
Fragile X Syndrome
Fragile X syndrome is caused by mutations in the FMR1 gene located on the X chromosome. There are three main types of mutations - normal, premutation, and full mutation - defined by the number of CGG repeats in the FMR1 gene. A full mutation with over 200 CGG repeats causes methylation and silencing of the FMR1 gene, resulting in little or no production of the FMRP protein and causing the symptoms of fragile X syndrome. The document discusses the history, genetics, diagnosis, and effects of fragile X syndrome. It also presents a case study examining the results of prenatal testing for a pregnant woman.
Fragile X Syndrome and Infertility
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
Prader willi syndrome
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
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.
Explanation of autosomal dominant inheritance
This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Fxs 43
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability (ID). It is caused by an expansion of CGG repeats on the X chromosome, which can lead to reduced or absent production of the FMRP protein. In males, a full mutation with over 200 CGG repeats typically causes ID, autism, and physical characteristics. In females, the effects are usually more mild. The premutation, between 55-200 repeats, increases risks for disorders like fragile X-associated tremor/ataxia syndrome in older individuals and premature ovarian insufficiency in females. Understanding the molecular basis of FXS continues to provide insights into psychiatry and opportunities for targeted treatments.
Genetic disorders
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Dwarfism Jeopardy
Dwarfism Jeopardy is a quiz about dwarfism that covers true/false questions about causes, types, treatments, and general facts. There are multiple types of dwarfism but no cure, though hormone therapy and surgery can help treat some forms. Most cases are caused by genetic mutations in egg or sperm cells, and while dwarfism affects height, it does not impact intellectual ability.
Mr2008
Mental retardation is characterized by subaverage intellectual functioning and deficits in adaptive behaviors that manifest before age 18. It is diagnosed based on IQ scores and impairments in areas such as communication, self-care, social skills, and more. The levels of mental retardation range from mild to profound based on IQ scores. The causes include genetic syndromes like Down syndrome and Fragile X syndrome, as well as various prenatal, perinatal, and postnatal factors. Current theories view mental retardation as resulting from an interaction between biological and environmental influences.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and independent living abilities. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
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
Klinefelter genetic diseas
Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development, occurring in approximately 1 in 500 males who are born with an extra X chromosome, giving them a 47,XXY chromosome pattern rather than the typical 46,XY pattern. Males with Klinefelter syndrome may experience delayed or incomplete puberty, infertility, and other physical traits that become apparent during adolescence due to a shortage of testosterone. While not inheritable, it can be treated through hormone replacement therapy such as testosterone injections to help promote typical physical development.
CHROMOSOMAL ABNORMALITIES
This document discusses chromosomal abnormalities, including common abnormalities seen in children. It describes the normal human karyotype of 46 chromosomes consisting of 22 pairs of autosomes and one pair of sex chromosomes. It then discusses specific abnormalities including trisomy 21 (Down syndrome), trisomy 18, Turner syndrome, Klinefelter syndrome, and structural abnormalities involving deletions or duplications of chromosomal segments. For each condition, it provides the genetic basis and characteristic clinical features as well as treatment approaches when available.
Dwarfism 1
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
Genetic condition
This document provides information on several genetic conditions that can affect adolescents and adults. It summarizes 3 genetic conditions that can affect adolescents: adolescent idiopathic scoliosis, which causes abnormal curvature of the spine; juvenile myoclonic epilepsy, characterized by seizures beginning in childhood; and Leydig cell hypoplasia, which affects male sexual development. It also summarizes 3 conditions that can affect adults: Parkinson's disease, a progressive nervous system disorder; Alzheimer's disease, a degenerative brain disease and cause of dementia; and hereditary hemochromatosis, an iron overload disorder. For each condition, it discusses characteristics, frequency, genetic changes, and inheritance patterns.
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What's hot
Fragile x syndrome
Fragile X Syndrome is an inherited genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from producing the Fragile X Mental Retardation Protein (FMRP), which is important for brain development. Individuals with over 200 CGG repeats on the FMR1 gene have a full mutation that causes Fragile X Syndrome. Symptoms include physical, behavioral, cognitive, and learning deficiencies such as motor/speech delays, hyperactivity, poor reasoning skills, and difficulty with cause and effect. Treatments focus on educational and behavioral interventions to improve social skills, intellectual ability, and adaptive functioning through programs like occupational therapy and specialized medication.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
Fragile X Syndrome
Fragile X syndrome is caused by mutations in the FMR1 gene located on the X chromosome. There are three main types of mutations - normal, premutation, and full mutation - defined by the number of CGG repeats in the FMR1 gene. A full mutation with over 200 CGG repeats causes methylation and silencing of the FMR1 gene, resulting in little or no production of the FMRP protein and causing the symptoms of fragile X syndrome. The document discusses the history, genetics, diagnosis, and effects of fragile X syndrome. It also presents a case study examining the results of prenatal testing for a pregnant woman.
Fragile X Syndrome and Infertility
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
Prader willi syndrome
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
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.
Explanation of autosomal dominant inheritance
This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Fxs 43
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability (ID). It is caused by an expansion of CGG repeats on the X chromosome, which can lead to reduced or absent production of the FMRP protein. In males, a full mutation with over 200 CGG repeats typically causes ID, autism, and physical characteristics. In females, the effects are usually more mild. The premutation, between 55-200 repeats, increases risks for disorders like fragile X-associated tremor/ataxia syndrome in older individuals and premature ovarian insufficiency in females. Understanding the molecular basis of FXS continues to provide insights into psychiatry and opportunities for targeted treatments.
Genetic disorders
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Dwarfism Jeopardy
Dwarfism Jeopardy is a quiz about dwarfism that covers true/false questions about causes, types, treatments, and general facts. There are multiple types of dwarfism but no cure, though hormone therapy and surgery can help treat some forms. Most cases are caused by genetic mutations in egg or sperm cells, and while dwarfism affects height, it does not impact intellectual ability.
Mr2008
Mental retardation is characterized by subaverage intellectual functioning and deficits in adaptive behaviors that manifest before age 18. It is diagnosed based on IQ scores and impairments in areas such as communication, self-care, social skills, and more. The levels of mental retardation range from mild to profound based on IQ scores. The causes include genetic syndromes like Down syndrome and Fragile X syndrome, as well as various prenatal, perinatal, and postnatal factors. Current theories view mental retardation as resulting from an interaction between biological and environmental influences.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and independent living abilities. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
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
Klinefelter genetic diseas
Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development, occurring in approximately 1 in 500 males who are born with an extra X chromosome, giving them a 47,XXY chromosome pattern rather than the typical 46,XY pattern. Males with Klinefelter syndrome may experience delayed or incomplete puberty, infertility, and other physical traits that become apparent during adolescence due to a shortage of testosterone. While not inheritable, it can be treated through hormone replacement therapy such as testosterone injections to help promote typical physical development.
CHROMOSOMAL ABNORMALITIES
This document discusses chromosomal abnormalities, including common abnormalities seen in children. It describes the normal human karyotype of 46 chromosomes consisting of 22 pairs of autosomes and one pair of sex chromosomes. It then discusses specific abnormalities including trisomy 21 (Down syndrome), trisomy 18, Turner syndrome, Klinefelter syndrome, and structural abnormalities involving deletions or duplications of chromosomal segments. For each condition, it provides the genetic basis and characteristic clinical features as well as treatment approaches when available.
Dwarfism 1
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
Genetic condition
This document provides information on several genetic conditions that can affect adolescents and adults. It summarizes 3 genetic conditions that can affect adolescents: adolescent idiopathic scoliosis, which causes abnormal curvature of the spine; juvenile myoclonic epilepsy, characterized by seizures beginning in childhood; and Leydig cell hypoplasia, which affects male sexual development. It also summarizes 3 conditions that can affect adults: Parkinson's disease, a progressive nervous system disorder; Alzheimer's disease, a degenerative brain disease and cause of dementia; and hereditary hemochromatosis, an iron overload disorder. For each condition, it discusses characteristics, frequency, genetic changes, and inheritance patterns.
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FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
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Fragile X Syndrome (FXS)
The overview and the description of overall pathology of Fragile X Syndrome. Also, explaining the genetic aspect of the mutation.
Fragile x syndrome
Fragile X syndrome is a genetic disorder and the most common inherited form of intellectual disability. It is caused by a mutation on the X chromosome that results in failure to produce a protein called FMRP. Without this protein, synaptic connections in the brain are abnormal. Fragile X syndrome symptoms can include cognitive impairment, behavioral and learning challenges, and various physical characteristics. While there is no cure, treatment aims to manage symptoms through educational support, therapies, and medications. Research continues on developing targeted drug therapies to treat the underlying condition.
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
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
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this topic is all about deafness and hearing impairment, this is all about the classification of deafness and hearing impairment and the cause language disorder.
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This document discusses genetic inheritance patterns such as autosomal dominant, recessive, and sex-linked inheritance. It describes several genetic syndromes including Down syndrome, Edward's syndrome, Patau syndrome, and Klinefelter syndrome. It also discusses methods for diagnosing genetic conditions through physical exams, lab tests, and genetic counseling.
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This document discusses genetic inheritance patterns such as autosomal dominant, recessive, and sex-linked inheritance. It describes several genetic syndromes including Down syndrome, Edward's syndrome, Patau syndrome, and Klinefelter syndrome. It also discusses diagnostic approaches for genetic disorders such as physical examination, laboratory tests, and genetic counseling.
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Down syndrome is a commonest autosomal chromosomal disorder caused by an error in cell division resulting the presence of an additional third chromosome 21 or trisomy 21. In this condition extra genetic material causes delays in the mental and physical development. An 8 month female child with the symptoms of unable to neck holding, dribbling of saliva, delay in finding of all motor, sensory and social developments was treated at OPD and IPD of GAM Puri with vata shamaka, brumhana and medhya treatment.After 3 months got demark able results in symptoms like dribbling of saliva, neck holding, sitting with support. Some shaishabiya panchakarma procedures were conducted with the child. Due to many familiar causes with the irregularity of continuation after 6 months the child found remarkable development in fine motor, gross motor, social and language development. Dr. Susmita Panda | Dr. Tikina Padhan | Dr. Sangita Prusty "A Clinical Study on Down Syndrome and its Management with Ayurveda" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-7 | Issue-6 , December 2023, URL: https://www.ijtsrd.com/papers/ijtsrd60096.pdf Paper Url: https://www.ijtsrd.com/medicine/ayurvedic/60096/a-clinical-study-on-down-syndrome-and-its-management-with-ayurveda/dr-susmita-panda
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The document discusses approaches to deafness and rehabilitation. It defines types of hearing loss and describes various causes of sensorineural hearing loss including hereditary, infectious, inflammatory, vascular, metabolic, traumatic, degenerative and neoplastic factors. It also discusses the impact of hearing loss and methods of assessing and managing hearing loss, including hearing aids, cochlear implants, and rehabilitation programs. Early identification and intervention are emphasized for minimizing impacts on development.
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This document summarizes intellectual disability and related neurodevelopmental disorders. It defines intellectual disability as significantly subaverage intellectual functioning and deficits in adaptive functioning that onset before age 18. The document outlines diagnostic criteria from the DSM-5 and ICD-11 and describes features of mild, moderate, severe and profound intellectual disability. It lists causes, elements of clinical evaluation, treatment considerations and prevalence statistics. The document also summarizes common communication disorders like language disorder, speech sound disorder, childhood-onset fluency disorder, social communication disorder and aphasia. Related conditions involving sensory impairments, learning disabilities and speech disorders are briefly outlined.
Mental retardation
Mental retardation is characterized by deficits in cognitive abilities and adaptive functioning that manifest during the developmental period. It is classified based on IQ scores into mild, moderate, severe and profound categories. The causes include genetic conditions like Down syndrome, fragile X syndrome, and inborn errors of metabolism. It can also be caused by acquired factors like maternal infections, childhood illnesses, trauma, and toxins. Diagnosis involves assessing cognitive abilities, adaptive skills, and ruling out other conditions. Prognosis depends on etiology and associated problems. Treatment focuses on education, therapies, social support, and prevention of secondary issues.
Cleft lip, Cleft palate & Spina bifida
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Lifespan psychology lecture 4.1
During middle childhood, children experience significant physical growth and development. On average, children grow 2-3 inches per year and gain 5-7 pounds. Their bodies become more muscular and strong. About 10-15% of children are overweight or obese, which can negatively impact both physical and mental health. Children also develop fine motor skills needed for tasks like writing and tying shoes. Psychologically, around 20% of children experience disorders like depression or anxiety, though treatments are still debated. Many children also have special needs involving vision, hearing, speech, learning, or attention.
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Fragile X Syndrome
- 2. Causes A mutation of a gene A change in part of the X chromosome
- 3. Females carry the gene 2-4x as often as males.
- 4. Male Characteristics Normal at birth Develop Mental Delays Behavioral Problems Hyperactivity ADHD 90% show mild-severe retardation Frequent ear & sinus infections Digestive Disorders
- 5. Physical Male Characteristics Large, protruding ears Long, narrow face Prominent Chin Prominent Forehead Double-jointed fingers Flat feet Puffy eyelids Enlarged testes after puberty
- 6. Female Characteristics Difficulty with math Excel at reading & spelling Frequent ear & sinus infections Digestive Disorders 1/3 – 1/2 have intellectual disabilities Speech delays Attention difficulties Emotionally Problems Anxiety Depression
- 7. Implications for Education Special Education Speech & Language Therapies Occupational Therapies Physical Therapies Multi-disciplinary approach
- 8. Diagnosis Boys are diagnosed at about 35-37 months Girls are diagnosed at about 41 months Diagnosis is confirmed through a blood test
- 9. Sources http://www.fragilex.org/html/summary.htm http://www.marchofdimes.com/birthdefects_fragilex.html http://www.medicinenet.com/fragile_x_syndrome/article.htm http://www.fpg.unc.edu/~fx/pages/edtreat.htm
Editor's Notes
- Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.