Down Syndrome ♥
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This document summarizes key information about Down syndrome. It begins by stating that typically developing people have 46 chromosomes from their parents, while those with Down syndrome have 47 chromosomes instead. It then discusses that Down syndrome occurs due to a random event during cell division where a third copy of chromosome 21 is inherited. The document notes some common physical traits and varying levels of intellectual disabilities associated with Down syndrome. It concludes by sharing the author's personal experience with their younger sister who has Down syndrome.
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Down syndrome
Down syndrome is a genetic condition where a person has an extra chromosome, typically chromosome 21. This extra genetic material causes delays in physical and mental development. While the cause is unknown, the risk increases with the mother's age. Down syndrome can be detected before birth through screening tests. It cannot be prevented, but women have options for continuing or terminating the pregnancy if Down syndrome is detected. People with Down syndrome have characteristic physical features including a flat facial profile and inward curving small pinky finger.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. It is characterized by intellectual disabilities, distinctive facial features, and often other health issues. While there is no cure for Down syndrome, early intervention programs can help children with Down syndrome achieve their potential. The degree of intellectual disability varies widely but most have mild to moderate disability.
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.
Down síndrome
Down syndrome is a genetic condition where a person is born with an extra chromosome 21. It was first described by Dr. John Langdon Down. People with Down syndrome have 46 chromosomes instead of the typical 46, with the extra chromosome causing delays in physical and mental development. While the cause is unknown, it occurs when there is an extra chromosome in the 21st pair. Those with Down syndrome often have characteristic physical traits and may experience medical issues such as heart defects, eye and vision problems, hip issues, and thyroid problems.
Down syndrome
Down syndrome is a genetic condition where a person is born with an extra chromosome 21. This extra genetic material causes delays in physical and mental development. The most common type is Trisomy 21, where there are three copies of chromosome 21 in every cell. People with Down syndrome often have characteristic facial features and health issues such as heart defects and hearing problems. While development is slower, people with Down syndrome can lead healthy lives with the right support and treatment.
Down syndrome
This document provides information about Down syndrome, including its causes, risk factors, types, symptoms, diagnosis, treatment, and prevention. Down syndrome is a chromosomal disorder caused by the presence of all or part of an extra copy of chromosome 21. It was first described in 1887 by John Langdon Down. The estimated worldwide incidence is between 1 in 1,000 to 1 in 1,100 live births. Over 95% of cases are caused by Trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Screening and diagnostic tests during pregnancy can determine if a fetus has Down syndrome. Therapies after birth focus on physical, speech, occupational and behavioral therapy. While Down syndrome cannot be
Down Syndrome
Down Syndrome is a genetic chromosomal condition that affects people of all races and economic levels. It can be diagnosed prenatally through screening tests or after birth based on physical traits and a karyotype test. The preferred language is people first, such as referring to someone as "a child with Down Syndrome" rather than "a Down Syndrome child", and saying they "have" Down Syndrome rather than that they "suffer" from it.
Down syndrome - A Parent's perspective
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Recommended
Down syndrome
Down syndrome is a genetic condition where a person has an extra chromosome, typically chromosome 21. This extra genetic material causes delays in physical and mental development. While the cause is unknown, the risk increases with the mother's age. Down syndrome can be detected before birth through screening tests. It cannot be prevented, but women have options for continuing or terminating the pregnancy if Down syndrome is detected. People with Down syndrome have characteristic physical features including a flat facial profile and inward curving small pinky finger.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. It is characterized by intellectual disabilities, distinctive facial features, and often other health issues. While there is no cure for Down syndrome, early intervention programs can help children with Down syndrome achieve their potential. The degree of intellectual disability varies widely but most have mild to moderate disability.
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.
Down síndrome
Down syndrome is a genetic condition where a person is born with an extra chromosome 21. It was first described by Dr. John Langdon Down. People with Down syndrome have 46 chromosomes instead of the typical 46, with the extra chromosome causing delays in physical and mental development. While the cause is unknown, it occurs when there is an extra chromosome in the 21st pair. Those with Down syndrome often have characteristic physical traits and may experience medical issues such as heart defects, eye and vision problems, hip issues, and thyroid problems.
Down syndrome
Down syndrome is a genetic condition where a person is born with an extra chromosome 21. This extra genetic material causes delays in physical and mental development. The most common type is Trisomy 21, where there are three copies of chromosome 21 in every cell. People with Down syndrome often have characteristic facial features and health issues such as heart defects and hearing problems. While development is slower, people with Down syndrome can lead healthy lives with the right support and treatment.
Down syndrome
This document provides information about Down syndrome, including its causes, risk factors, types, symptoms, diagnosis, treatment, and prevention. Down syndrome is a chromosomal disorder caused by the presence of all or part of an extra copy of chromosome 21. It was first described in 1887 by John Langdon Down. The estimated worldwide incidence is between 1 in 1,000 to 1 in 1,100 live births. Over 95% of cases are caused by Trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Screening and diagnostic tests during pregnancy can determine if a fetus has Down syndrome. Therapies after birth focus on physical, speech, occupational and behavioral therapy. While Down syndrome cannot be
Down Syndrome
Down Syndrome is a genetic chromosomal condition that affects people of all races and economic levels. It can be diagnosed prenatally through screening tests or after birth based on physical traits and a karyotype test. The preferred language is people first, such as referring to someone as "a child with Down Syndrome" rather than "a Down Syndrome child", and saying they "have" Down Syndrome rather than that they "suffer" from it.
Down syndrome - A Parent's perspective
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Downs Syndrome Presentation
This document provides information about Down Syndrome through defining what it is, possible causes, identifying characteristics, teaching strategies, statistics, and family resources. Down Syndrome is a chromosomal disorder where chromosome 21 is abnormal, causing mental and physical impairments. It can be caused by factors like advanced maternal age or genetics. People with Down Syndrome often have distinctive physical traits and experience delays in areas like language and speech development. The document discusses individualized education approaches like speech therapy, technology use, small group instruction, and praise-based behavior management as effective strategies. It provides statistics on Down Syndrome occurrences and life expectancy increases. Finally, it lists local family support resources.
What Is Down Syndrome?
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
What is down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by intellectual disability and developmental delays, a distinct facial appearance, and weak muscle tone. There are three main types - trisomy 21, translocation, and mosaicism. While people with Down syndrome experience cognitive delays, the intellectual disability is usually mild to moderate. With proper medical care and support, people with Down syndrome can lead healthy lives and learn new skills.
Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in three main forms: Trisomy 21 (95% of cases), where there are three copies of chromosome 21 instead of the typical two; mosaicism (1% of cases), where some but not all cells have an extra chromosome 21; and translocation (4% of cases), where part of chromosome 21 breaks off and attaches to another chromosome. The extra genetic material from chromosome 21 causes issues with brain and body development that result in both physical and mental symptoms that can range from mild to severe. While there is no cure, treatment focuses on managing symptoms through education, therapy, and surgery if needed to address health issues.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by physical abnormalities like a flat face and short neck, as well as cognitive delays. The most common form is trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Diagnosis is usually made prenatally through tests like amniocentesis or chorionic villus sampling. Treatment focuses on supporting development and managing any associated medical conditions through a team approach involving various therapists and doctors.
Cat's cry syndrome & Prader willi syndromes
Cat's cry syndrome, also known as cri du chat syndrome, is a rare genetic disorder caused by a missing part of chromosome 5. It is characterized by a high-pitched cry in infants and significant developmental delays. Prader-Willi syndrome is another rare genetic disorder caused by deletions or defects on chromosome 15. It causes poor muscle tone and feeding difficulties in infants as well as excessive hunger and weight gain in older children. Both disorders are diagnosed based on symptoms and genetic testing, and treatment focuses on managing symptoms.
Down syndrome by Dr. Rubzzz
John Langdon Down was a British physician who first described Down syndrome in 1866 and recognized it as a distinct medical condition; he proposed that it results from reversion to ancestral traits seen in other races. Down syndrome, also known as trisomy 21, occurs when there is an extra chromosome 21 present and results in cognitive impairment and physical characteristics including a flat facial profile, upward slanting eyes, and a short neck. The risk of Down syndrome increases with maternal age and proper prenatal screening and testing can help diagnose the condition before birth.
Stages and Signs of Puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a boy. In response to the signals, the gonads produce hormones that stimulate libido and the growth, function, and transformation of the brain, bones, muscle, blood, skin, hair, breasts, and sex organs. Physical growth—height and weight—accelerates in the first half of puberty and is completed when an adult body has been developed. Until the maturation of their reproductive capabilities, the pre-pubertal physical differences between boys and girls are the external sex organs.
On average, girls begin puberty around ages 10–11; boys around ages 11–12. Girls usually complete puberty around ages 15–17, while boys usually complete puberty around ages 16–17. The major landmark of puberty for females is menarche, the onset of menstruation, which occurs on average between ages 12–13; for males, it is the first ejaculation, which occurs on average at age 13. In the 21st century, the average age at which children, especially girls, reach puberty is lower compared to the 19th century, when it was 15 for girls and 16 for boys. This can be due to any number of factors, including improved nutrition resulting in rapid body growth, increased weight and fat deposition, or exposure to endocrine disruptor such as xenoestrogens, which can at times be due to food consumption or other environmental factors. Puberty which starts earlier than usual is known as precocious puberty. Puberty which starts later than usual is known as delayed puberty.
Notable among the morphologic changes in size, shape, composition, and functioning of the pubertal body, is the development of secondary sex characteristics, the "filling in" of the child's body; from girl to woman, from boy to man. Derived from the Latin puberatum (age of maturity), the word puberty describes the physical changes to sexual maturation, not the psychosocial and cultural maturation denoted by the term adolescent development in Western culture, wherein adolescence is the period of mental transition from childhood to adulthood, which overlaps much of the body's period of puberty.
Down syndrome
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
Revista Digital
The document discusses Down syndrome, including what it is, what causes it, and treatment. Down syndrome is a genetic condition in which a person has an extra chromosome 21, causing delays in mental and physical development. It occurs in about 1 in 800 births. While the effects vary, it often involves physical abnormalities and some degree of intellectual disability. The extra genetic material is usually not inherited but occurs randomly as a mistake in cell division. The risks increase with the age of the mother. There is no cure, but treatment focuses on supporting development and managing associated medical problems.
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
a brief explanation about down syndrome's causes, symptoms, noticeable differences etc. with pictures of patients, ultrasounds for early diagnosis, for better understanding. Hopefully it will be helpful to all you medical students out there, and also people curious to know about this syndrome.
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder caused by a missing part of chromosome 5, affecting an estimated 1 in 20,000 to 50,000 live births. It is usually not inherited from parents and more commonly found in females. While the condition cannot be cured, symptoms such as feeding issues and speech delays can be treated through early therapy. Parents are also advised to seek counseling.
Cri du-chat syndrome
Cri-du-chat syndrome, also known as chromosome 5p deletion syndrome, is caused by a deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in affected infants due to problems with larynx development. Other symptoms include small size, mental retardation, small head and jaw, distinctive facial features and limb abnormalities. While there is no cure, treatment focuses on managing symptoms through physical and speech therapy. The condition occurs in approximately 1 in 20,000 to 50,000 live births.
Adolescence
This document summarizes the key physical changes that occur during male and female puberty. It describes the hormonal drivers of puberty and the typical sequence and timing of secondary sex characteristics in both sexes. The summary highlights that puberty begins earlier in girls and involves estrogen, while puberty occurs later in boys and is driven by testosterone. Physical developments include growth of genitals and pubic hair, changes in body shape and composition, and onset of reproductive maturity.
Puberty
What is puberty?
Puberty is the time in life when a person becomes sexually mature. It is a physical change that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. Some African American girls start puberty earlier than white girls, making their age range for puberty 9 to 14.
Puberty starts when a part of the brain called the hypothalmus begins releasing a hormone called gonadotropin releasing hormone (GnRH).
GnRH then signals the pituitary gland to release two more hormones - luteinizing hormone (LH) and follicle-stimulating hormone (FSH) – to start sexual development.
A study funded in part by NICHD has identified a gene that appears to be the crucial signal for the beginning of puberty. Without a functioning copy of the gene, known as GPR54, humans appear unable to enter puberty normally.
Learning Disability
This document discusses several physical and emotional conditions that are often associated with learning disabilities, including autism, Asperger's syndrome, cerebral palsy, Down's syndrome, fragile X syndrome, global development delay, and challenging behaviors. It notes that individuals with learning disabilities may receive multiple diagnoses and require additional support. Brief descriptions of each condition are provided.
Having a Child with Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes some physical characteristics like low muscle tone and an upward slant to the eyes. Early intervention through therapies can help children with Down syndrome develop skills to lay a foundation for future progress. While individuals with Down syndrome learn at different rates, educational and therapeutic interventions from a young age can greatly benefit them. With support, people with Down syndrome can achieve varied goals and roles.
Puberty
Puberty is driven by increasing hormone levels in both boys and girls. For girls, estrogen causes physical changes and mood swings. Boys experience hormonal changes from the brain to the testicles that also result in physical and emotional development. Both girls and boys deal with sudden mood changes and feelings of energy or depression as a normal part of puberty.
Types and symptoms of down syndrome.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. It causes intellectual and physical delays and disabilities. There are three main types of Down syndrome - Trisomy 21, the most common type caused when chromosome 21 fails to split during conception; Translocation Down Syndrome, similar to Trisomy 21 but with the extra chromosome attached to another; and Mosaic Down Syndrome, where only some cells have the extra chromosome 21. Symptoms vary between individuals but commonly include flattened face, small head, protruding tongue, and other physical traits as well as intellectual disabilities and delays.
Down Syndrome 2
Down syndrome is the most common cause of developmental disability in newborns, occurring due to the presence of an extra chromosome. It affects 1 in 800 live births and the risk increases with the age of the mother. Symptoms include a flat nose, small mouth, slanting eyes, as well as adverse effects on hearing and sight like frequent ear infections leading to hearing loss requiring aids. While there is no prevention or cure, screening and diagnostic tests can determine the risk and manage symptoms through regular checkups and medication. Support is available through organizations providing information, love, structure and community.
down syndrome 2
The document discusses Down syndrome, which is caused by trisomy of chromosome 21 resulting in 47 total chromosomes instead of the typical 46. Individuals with Down syndrome have increased risk based on advanced maternal age and are more likely to have certain physical traits like a flat face and short hands. The condition was first described in 1866 and its genetic basis was discovered in 1930. Current research uses mouse models to study specific genes on chromosome 21 that may contribute to Down syndrome phenotypes.
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Downs Syndrome Presentation
This document provides information about Down Syndrome through defining what it is, possible causes, identifying characteristics, teaching strategies, statistics, and family resources. Down Syndrome is a chromosomal disorder where chromosome 21 is abnormal, causing mental and physical impairments. It can be caused by factors like advanced maternal age or genetics. People with Down Syndrome often have distinctive physical traits and experience delays in areas like language and speech development. The document discusses individualized education approaches like speech therapy, technology use, small group instruction, and praise-based behavior management as effective strategies. It provides statistics on Down Syndrome occurrences and life expectancy increases. Finally, it lists local family support resources.
What Is Down Syndrome?
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
What is down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by intellectual disability and developmental delays, a distinct facial appearance, and weak muscle tone. There are three main types - trisomy 21, translocation, and mosaicism. While people with Down syndrome experience cognitive delays, the intellectual disability is usually mild to moderate. With proper medical care and support, people with Down syndrome can lead healthy lives and learn new skills.
Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in three main forms: Trisomy 21 (95% of cases), where there are three copies of chromosome 21 instead of the typical two; mosaicism (1% of cases), where some but not all cells have an extra chromosome 21; and translocation (4% of cases), where part of chromosome 21 breaks off and attaches to another chromosome. The extra genetic material from chromosome 21 causes issues with brain and body development that result in both physical and mental symptoms that can range from mild to severe. While there is no cure, treatment focuses on managing symptoms through education, therapy, and surgery if needed to address health issues.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by physical abnormalities like a flat face and short neck, as well as cognitive delays. The most common form is trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Diagnosis is usually made prenatally through tests like amniocentesis or chorionic villus sampling. Treatment focuses on supporting development and managing any associated medical conditions through a team approach involving various therapists and doctors.
Cat's cry syndrome & Prader willi syndromes
Cat's cry syndrome, also known as cri du chat syndrome, is a rare genetic disorder caused by a missing part of chromosome 5. It is characterized by a high-pitched cry in infants and significant developmental delays. Prader-Willi syndrome is another rare genetic disorder caused by deletions or defects on chromosome 15. It causes poor muscle tone and feeding difficulties in infants as well as excessive hunger and weight gain in older children. Both disorders are diagnosed based on symptoms and genetic testing, and treatment focuses on managing symptoms.
Down syndrome by Dr. Rubzzz
John Langdon Down was a British physician who first described Down syndrome in 1866 and recognized it as a distinct medical condition; he proposed that it results from reversion to ancestral traits seen in other races. Down syndrome, also known as trisomy 21, occurs when there is an extra chromosome 21 present and results in cognitive impairment and physical characteristics including a flat facial profile, upward slanting eyes, and a short neck. The risk of Down syndrome increases with maternal age and proper prenatal screening and testing can help diagnose the condition before birth.
Stages and Signs of Puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a boy. In response to the signals, the gonads produce hormones that stimulate libido and the growth, function, and transformation of the brain, bones, muscle, blood, skin, hair, breasts, and sex organs. Physical growth—height and weight—accelerates in the first half of puberty and is completed when an adult body has been developed. Until the maturation of their reproductive capabilities, the pre-pubertal physical differences between boys and girls are the external sex organs.
On average, girls begin puberty around ages 10–11; boys around ages 11–12. Girls usually complete puberty around ages 15–17, while boys usually complete puberty around ages 16–17. The major landmark of puberty for females is menarche, the onset of menstruation, which occurs on average between ages 12–13; for males, it is the first ejaculation, which occurs on average at age 13. In the 21st century, the average age at which children, especially girls, reach puberty is lower compared to the 19th century, when it was 15 for girls and 16 for boys. This can be due to any number of factors, including improved nutrition resulting in rapid body growth, increased weight and fat deposition, or exposure to endocrine disruptor such as xenoestrogens, which can at times be due to food consumption or other environmental factors. Puberty which starts earlier than usual is known as precocious puberty. Puberty which starts later than usual is known as delayed puberty.
Notable among the morphologic changes in size, shape, composition, and functioning of the pubertal body, is the development of secondary sex characteristics, the "filling in" of the child's body; from girl to woman, from boy to man. Derived from the Latin puberatum (age of maturity), the word puberty describes the physical changes to sexual maturation, not the psychosocial and cultural maturation denoted by the term adolescent development in Western culture, wherein adolescence is the period of mental transition from childhood to adulthood, which overlaps much of the body's period of puberty.
Down syndrome
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
Revista Digital
The document discusses Down syndrome, including what it is, what causes it, and treatment. Down syndrome is a genetic condition in which a person has an extra chromosome 21, causing delays in mental and physical development. It occurs in about 1 in 800 births. While the effects vary, it often involves physical abnormalities and some degree of intellectual disability. The extra genetic material is usually not inherited but occurs randomly as a mistake in cell division. The risks increase with the age of the mother. There is no cure, but treatment focuses on supporting development and managing associated medical problems.
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
a brief explanation about down syndrome's causes, symptoms, noticeable differences etc. with pictures of patients, ultrasounds for early diagnosis, for better understanding. Hopefully it will be helpful to all you medical students out there, and also people curious to know about this syndrome.
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder caused by a missing part of chromosome 5, affecting an estimated 1 in 20,000 to 50,000 live births. It is usually not inherited from parents and more commonly found in females. While the condition cannot be cured, symptoms such as feeding issues and speech delays can be treated through early therapy. Parents are also advised to seek counseling.
Cri du-chat syndrome
Cri-du-chat syndrome, also known as chromosome 5p deletion syndrome, is caused by a deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in affected infants due to problems with larynx development. Other symptoms include small size, mental retardation, small head and jaw, distinctive facial features and limb abnormalities. While there is no cure, treatment focuses on managing symptoms through physical and speech therapy. The condition occurs in approximately 1 in 20,000 to 50,000 live births.
Adolescence
This document summarizes the key physical changes that occur during male and female puberty. It describes the hormonal drivers of puberty and the typical sequence and timing of secondary sex characteristics in both sexes. The summary highlights that puberty begins earlier in girls and involves estrogen, while puberty occurs later in boys and is driven by testosterone. Physical developments include growth of genitals and pubic hair, changes in body shape and composition, and onset of reproductive maturity.
Puberty
What is puberty?
Puberty is the time in life when a person becomes sexually mature. It is a physical change that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. Some African American girls start puberty earlier than white girls, making their age range for puberty 9 to 14.
Puberty starts when a part of the brain called the hypothalmus begins releasing a hormone called gonadotropin releasing hormone (GnRH).
GnRH then signals the pituitary gland to release two more hormones - luteinizing hormone (LH) and follicle-stimulating hormone (FSH) – to start sexual development.
A study funded in part by NICHD has identified a gene that appears to be the crucial signal for the beginning of puberty. Without a functioning copy of the gene, known as GPR54, humans appear unable to enter puberty normally.
Learning Disability
This document discusses several physical and emotional conditions that are often associated with learning disabilities, including autism, Asperger's syndrome, cerebral palsy, Down's syndrome, fragile X syndrome, global development delay, and challenging behaviors. It notes that individuals with learning disabilities may receive multiple diagnoses and require additional support. Brief descriptions of each condition are provided.
Having a Child with Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes some physical characteristics like low muscle tone and an upward slant to the eyes. Early intervention through therapies can help children with Down syndrome develop skills to lay a foundation for future progress. While individuals with Down syndrome learn at different rates, educational and therapeutic interventions from a young age can greatly benefit them. With support, people with Down syndrome can achieve varied goals and roles.
Puberty
Puberty is driven by increasing hormone levels in both boys and girls. For girls, estrogen causes physical changes and mood swings. Boys experience hormonal changes from the brain to the testicles that also result in physical and emotional development. Both girls and boys deal with sudden mood changes and feelings of energy or depression as a normal part of puberty.
Types and symptoms of down syndrome.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. It causes intellectual and physical delays and disabilities. There are three main types of Down syndrome - Trisomy 21, the most common type caused when chromosome 21 fails to split during conception; Translocation Down Syndrome, similar to Trisomy 21 but with the extra chromosome attached to another; and Mosaic Down Syndrome, where only some cells have the extra chromosome 21. Symptoms vary between individuals but commonly include flattened face, small head, protruding tongue, and other physical traits as well as intellectual disabilities and delays.
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Down syndrome is the most common cause of developmental disability in newborns, occurring due to the presence of an extra chromosome. It affects 1 in 800 live births and the risk increases with the age of the mother. Symptoms include a flat nose, small mouth, slanting eyes, as well as adverse effects on hearing and sight like frequent ear infections leading to hearing loss requiring aids. While there is no prevention or cure, screening and diagnostic tests can determine the risk and manage symptoms through regular checkups and medication. Support is available through organizations providing information, love, structure and community.
down syndrome 2
The document discusses Down syndrome, which is caused by trisomy of chromosome 21 resulting in 47 total chromosomes instead of the typical 46. Individuals with Down syndrome have increased risk based on advanced maternal age and are more likely to have certain physical traits like a flat face and short hands. The condition was first described in 1866 and its genetic basis was discovered in 1930. Current research uses mouse models to study specific genes on chromosome 21 that may contribute to Down syndrome phenotypes.
Down Syndrome Cognition Research 101: An Introduction
This document summarizes a presentation given on World Down Syndrome Day about Down syndrome cognition research. It discusses the mission of the Down Syndrome Research and Treatment Foundation to fund research to improve cognition for individuals with Down syndrome. It provides an overview of the organization's history, research strategy, and results including identifying 8 potential drug targets and supporting 3 clinical trials. The presentation also discusses cognitive challenges for those with Down syndrome and how targeting memory systems and related mechanisms could help improve learning, memory, and independence.
down syndrome-
This document provides information about Down syndrome including:
- Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It was first described in 1866 and identified as a chromosome abnormality in 1959.
- Individuals with Down syndrome often have cognitive disabilities and characteristic physical traits such as a flat nasal bridge, upward slanting eyes, and small mouth. They also have an increased risk of health issues like heart defects and hearing loss.
- Down syndrome is usually caused by a chromosomal abnormality called trisomy 21, but can also be due to mosaicism or translocations. The risk increases with older parental age and a family history of Down syndrome. Prognosis has improved with
Down syndrome
Down syndrome is a chromosomal condition caused by the presence of an extra copy of chromosome 21. It is often associated with delays in cognitive ability and physical growth. Individuals with Down syndrome typically have an IQ around 50, compared to 100 for those without it, and many have severe intellectual disabilities.
Down syndrome
Down syndrome is caused by the presence of an extra chromosome 21. It is neither dominant nor recessive as it results from an error in chromosome translation. The amyloid precursor protein gene on chromosome 21 may cause Down syndrome by interfering with cell signaling and leading to cell death. People with Down syndrome have distinct physical features like a flattened face and webbed fingers or toes. Treatments focus on managing any related health issues and providing early intervention programs. Life expectancy is around 50 years on average.
Down syndrome
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Down Syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21, occurring in 1 in 800 live births. It is the most common genetic cause of mild to moderate intellectual disability. While there is no cure for Down syndrome, early intervention and treatment focusing on managing symptoms can help those with Down syndrome live productive lives. Current research is exploring strategies like boosting norepinephrine signaling in the brain to potentially improve cognition for those with Down syndrome.
Down Syndrome 1
Down syndrome, also known as trisomy 21, is a genetic disorder caused by a third copy of chromosome 21. It is associated with physical growth delays and distinctive facial features. People with Down syndrome typically have mild to moderate intellectual disabilities, with an average IQ of around 50. While Down syndrome is not caused by environmental factors or a parent's genetics, it can be identified during pregnancy through screening and testing. Individuals with Down syndrome often require regular health checks as they are at greater risk for health problems and have reduced life expectancy compared to the general population.
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.
screening for down syndrome
Prenatal screening and diagnosis allows for the detection of fetal abnormalities before birth. It involves various screening techniques in the first and second trimester such as nuchal translucency measurement, maternal serum markers, and ultrasound exams. Invasive diagnostic tests such as amniocentesis and chorionic villus sampling allow for the analysis of fetal cells to check for genetic abnormalities. The goal of prenatal screening and diagnosis is to provide information to parents about the health of the fetus and allow for informed decision making and management planning.
Down syndrome presentation
This document provides information about Down Syndrome. It explains that Down Syndrome is caused by having an extra gene and impacts appearance and development. It notes that while people with Down Syndrome may develop differently, they can still go to school, have friends, and enjoy activities. The document encourages inclusion and friendship towards those with Down Syndrome and warns against teasing or exclusion. It provides tips for welcoming a friend with Down Syndrome such as introducing yourself and asking if they need help.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It causes delays in physical and intellectual development and is the most common chromosome abnormality in humans, affecting approximately 1 in 800 live births. The signs and symptoms include cognitive impairment and characteristic facial features. While individuals with Down syndrome may have health issues, proper care and education can significantly improve quality of life.
Down syndrome
Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 700 live births. Clinical features include intellectual disability, characteristic facial features such as a flat face, upward slanted eyes, and a protruding tongue. Individuals with Down syndrome also have an increased risk of certain medical conditions such as congenital heart defects and thyroid problems. Prenatal screening and diagnostic tests can identify Down syndrome in utero. Lifelong medical care is important to monitor development, screen for associated conditions, and support quality of life.
Down Syndrome
The document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It notes that Down syndrome is caused by trisomy of chromosome 21 and occurs in approximately 1 in 660 births. Newborns with Down syndrome typically exhibit certain physical features such as slanted eyes and hypotonia. Common abnormalities include heart defects, gastrointestinal issues, hearing problems, and thyroid disorders. The document outlines guidelines for healthcare from the neonatal period through adulthood.
Genetic deseases. Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is associated with mild to moderate intellectual disabilities and developmental delays. Common physical characteristics include a flattened face, upward slanting eyes, and short fingers. Individuals with Down syndrome also often have heart defects, gastrointestinal issues, hearing loss, and early-onset Alzheimer's disease. Screening and diagnostic tests during pregnancy can indicate risk or confirm a diagnosis, but the condition is usually diagnosed after birth through chromosome analysis.
Wong. down syndrome
This document provides an overview of Down syndrome (DS), including:
- DS is caused by an extra copy of chromosome 21, resulting in developmental delays.
- It discusses the genetics behind DS, including the role of the DSCR1 gene and its impact on the calcineurin pathway.
- Clinical features of DS are described, such as physical and mental abnormalities, as well as an increased risk of health issues like heart defects.
- The relationship between DS and cancer is explored, how the same genetic pathways are involved in both.
- Current approaches to prevention, management, and treatment of DS are summarized.
Down syndrome awareness
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by cognitive delays, slower physical development, and distinctive facial features. Individuals with Down syndrome often have health issues such as heart defects, hearing or vision problems, thyroid issues, and an increased risk of Alzheimer's disease. Their development follows a specific pattern, with relative strengths in social skills but delays in motor skills, language, and short-term verbal memory. Early intervention and education can help maximize their learning potential over their lifetime.
Down Syndrome
Down syndrome is a genetic condition where a person is born with an extra chromosome 21. It occurs in 1 in 800 live births. There are three types of Down syndrome - trisomy 21, mosaicism, and translocation. Trisomy 21 is the most common type, affecting 95% of people with Down syndrome. People with Down syndrome may experience some physical and developmental differences but should not be defined by their syndrome. With support, people with Down syndrome can lead fulfilling lives.
Down sindrome
Down syndrome is a genetic condition where people are born with an extra chromosome. It causes distinctive facial features, a short neck, and short arms and legs. The risk of Down syndrome increases with the mother's age and if there is a family history of the condition. While the exact cause is unknown, it is thought to be due to a chromosomal abnormality where people are born with 47 chromosomes instead of the typical 46.
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Down Syndrome Cognition Research 101: An Introduction
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What is down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by intellectual disability and developmental delays, a distinct facial appearance, and weak muscle tone. There are three main types - trisomy 21, translocation, and mosaicism. While people with Down syndrome experience cognitive delays, the intellectual disability is usually mild to moderate. With proper support and care, people with Down syndrome can learn skills, go to school, work, and live independently or within a supportive community.
Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It occurs in three main forms: Trisomy 21 (95% of cases), where there are three copies of chromosome 21 instead of the typical two; mosaicism (1% of cases), where the extra chromosome is present in only some cells; and translocation (4% of cases), where part of chromosome 21 attaches to another chromosome, usually 14. The extra genetic material from chromosome 21 causes issues with brain and body development that result in both physical and mental symptoms that can range from mild to severe. While there is no cure, treatment focuses on managing symptoms through education, therapy, and surgery if needed to address health issues.
DOWN SYNDROME.pdf
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. There are four main types, with Trisomy 21 being the most common form. Risk factors include advanced maternal age. Physical signs may include a flat face, slanted eyes, and short stature. Diagnosis can occur prenatally through tests like amniocentesis. Complications can include heart defects, gastrointestinal issues, hearing/vision problems, and cognitive disabilities. Treatment focuses on physical, occupational and speech therapy.
DOWN SYNDROME.pdf
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. There are four main types, with Trisomy 21 being the most common form. Risk factors include advanced maternal age. Physical signs may include a flat face, slanted eyes, and short stature. Diagnosis can occur prenatally through tests like amniocentesis. Complications can include heart defects, gastrointestinal issues, hearing/vision problems, and cognitive disabilities. Treatment focuses on physical, occupational and speech therapy.
OF UGANDA(DOSAU)
This document provides information about Down Syndrome Association of Uganda (DOSAU), including its mission, vision, aims, and structure. DOSAU's mission is to help children born with Down syndrome and their families in Uganda. Its vision is to serve and support people with Down syndrome at all levels. DOSAU aims to unite people with Down syndrome and other disabilities to advocate for their rights and equal opportunities. The organization is membership-driven and works to raise awareness, provide support services, and advocate for the rights of people with Down syndrome in Uganda.
OF UGANDA(DOSAU)
This document provides information about Down Syndrome Association of Uganda (DOSAU), including its mission, vision, aims, and structure. DOSAU's mission is to help children born with Down syndrome and their families in Uganda. Its vision is to serve and support people with Down syndrome at all levels. DOSAU aims to unite people with Down syndrome and other disabilities to advocate for their rights and equal opportunities. The organization is membership-driven and works to raise awareness, provide support services, and advocate for the rights of people with Down syndrome in Uganda.
DOWN SYNDROME.pptx
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide range of phenotypic variation
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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be diagnosed at birth based on physical characteristics
like a flattened head, slanted eyes, and small features. People with Down syndrome may also experience cognitive delays, medical issues like heart
defects, and a shorter average lifespan. Testing during pregnancy can indicate the likelihood of a child being born with Down syndrome.
Down Syndrome
Down Syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It affects physical and cognitive development. Individuals with Down Syndrome often have characteristic facial features and health issues such as heart defects and hearing problems. While life expectancy has increased with medical advances, individuals with Down Syndrome still experience developmental delays and require lifelong support.
Down Syndrome (Trisomy 21)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is one of the most common genetic birth defects. This essay discusses the causes of Down syndrome, including nondisjunction during cell division which results in trisomy 21 in 95% of cases. Physical characteristics associated with Down syndrome include flattened facial features, an upward slant to the eyes, a protruding tongue, and reduced muscle tone. Individuals with Down syndrome may also experience health issues such as heart defects, vision problems, hearing loss, and cognitive impairments. Early testing during pregnancy can indicate whether a fetus has Down syndrome.
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