Rette syndrome final
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Rett syndrome is a rare genetic neurological disorder that mostly affects girls, with an incidence of 1 in 12,000 female births per year. It was first recognized in the 1960s and in 1999 a mutation in the MECP2 gene was discovered as the cause. It is characterized by normal early development followed by a loss of purposeful hand skills and spoken language between 1 to 4 years of age, accompanied by distinctive hand movements, slowed brain and head growth, problems walking, seizures, and intellectual disability. Diagnosis is based on symptoms and genetic testing can confirm a MECP2 mutation. There is no cure, but treatment focuses on management of symptoms, physical, occupational, and speech therapy, nutrition, and supportive care
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Down syndrome is a genetic disorder caused by a triplication of chromosome 21. It was first described in 1886 by Dr. John Langdon Down, who noted common characteristics in a group of people that resembled those of Eastern races, leading it also to be called mongolism. Risk factors include infectious diseases or crises during early pregnancy as well as increased maternal age. People with Down syndrome often have limited initiative, decreased inhibition, resistance to change, and low responsiveness in areas like attention, intelligence, memory, and language. Parents are encouraged to learn about Down syndrome, love and play with their child, encourage independence, stay involved in their education, and maintain patience and hope.
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Activity 1.2
This document discusses factors that affect second language acquisition (SLA) such as age, brain development, and cognitive development. It states that language is acquired most easily at a young age, but becomes more difficult after puberty due to neurological changes. Specifically, it notes that the brain lateralizes language functions to the left hemisphere during puberty, which makes SLA more difficult. It also discusses how children's developing cognition supports SLA through meaningful learning strategies, while adults rely more on explicit explanations.
Cri du chat syndrome,
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5.[1] Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.
RETT SYNDROME
Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls. It causes loss of hand skills and speech, cognitive impairments, and motor problems. Symptoms typically emerge between 6-18 months of age. There are four stages of Rett syndrome, beginning with loss of interest in toys and ending with severe mobility issues. It is caused by mutations in the MECP2 gene and while there is no cure, treatments can help with symptoms like breathing issues, stiffness, and seizures.
Rett syndrome
Rett syndrome is a rare neurological disorder that primarily affects girls. It is caused by mutations in the MECP2 gene located on the X chromosome. Symptoms begin between 6 to 18 months and include loss of hand skills, slowed brain and head growth, and seizures. There is no cure for Rett syndrome, but treatments like occupational therapy can help develop skills. People with Rett syndrome usually live into their middle ages, with a life expectancy estimated around 40 years.
Rett syndrome
Rett syndrome is a neurodevelopmental disorder that primarily affects girls. It is caused by mutations in the MECP2 gene located on the X chromosome. The disorder is characterized by normal early growth and development followed by a loss of acquired skills between 6-18 months of age. Symptoms vary across four stages but generally include loss of speech, hand skills, problems walking, seizures, and stereotypic hand movements. There is no cure for Rett syndrome but treatment focuses on managing symptoms through a multidisciplinary approach.
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Cri du chat syndrome,
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5.[1] Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.
RETT SYNDROME
Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls. It causes loss of hand skills and speech, cognitive impairments, and motor problems. Symptoms typically emerge between 6-18 months of age. There are four stages of Rett syndrome, beginning with loss of interest in toys and ending with severe mobility issues. It is caused by mutations in the MECP2 gene and while there is no cure, treatments can help with symptoms like breathing issues, stiffness, and seizures.
Rett syndrome
Rett syndrome is a rare neurological disorder that primarily affects girls. It is caused by mutations in the MECP2 gene located on the X chromosome. Symptoms begin between 6 to 18 months and include loss of hand skills, slowed brain and head growth, and seizures. There is no cure for Rett syndrome, but treatments like occupational therapy can help develop skills. People with Rett syndrome usually live into their middle ages, with a life expectancy estimated around 40 years.
Rett syndrome
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Rett syndrome
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Student Work Rett Syndrome
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Rett syndrome is caused by a mutation in the methyl CpG binding protein 2 ( MECP2 ) gene. The MECP2 gene is involved in the production of a protein called methyl-cystine binding protein 2 ( MeCP2) which is needed for brain development and acts as a biochemical switch that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. The MECP2 gene does not function normally in Rett syndrome so that structural abnormal forms or inadequate amounts of the protein are produced and can cause other genes to have abnormal gene expression.
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approachtoneurodegenerativedisordersnew-praman-171220185011.pdf
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- 1. Roshan
- 2. Rare genetic severe neurological disorder Mostly affects females Incidence: 1 in 12,000 girls born each year
- 3. Dr.Andreas Rett first recognised it more than fifty years ago……… Bengt Hagberg, planned the publication of article about the Rett sydrome in a widely read English newsapaper Annals of Neurology(1983) described about the complete work about Rett syndrome 1999- Discovery of mutation in MECP2 gene
- 5. Described in 4 stages however may overlap between stages Age of appearance of symptoms varies from child to child. But most commonly appears when the baby is at age between 12 to 18 months.
- 7. Stage 1- Early signs Stage 2- Regression Stage 3- Plateau Stage 4- Deterioration in movements
- 8. Low muscle tone (hypotonia) Difficulty feeding Unusual, repetitive hand movements or jerky limb movements Delay with development of speech Mobility problems, such as problems sitting, crawling and walking Lack of interest in toys
- 9. Loss of the ability to use the hands purposefully Social withdrawal Unsteadiness and awkwardness when walking Problems sleeping Slowing of head growth Difficulty eating, chewing or swallowing Air swallowing
- 10. Seizures Irregular breathing patterns may get worse Teeth grinding Heart rhythm abnormalities Improvements in symptoms appeared in stage 2
- 11. Development of a spinal curve(Scoliosis) Muscle weakness and spasticity Losing the ability to walk
- 12. Done based on pattern of symptoms and behavior Rule out other conditions like autism spectrum disorder cerebral palsy metabolic disorders prenatal brain disorders. Genetic blood test is useful is identifying mutation in MECP2 gene
- 13. Symptomatic treatment Standard medical care and medication Physical therapy Speech therapy Occupational therapy Good nutrition Behavioral therapy Supportive services