FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
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.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
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
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
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.
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
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
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
Irit Bar Netzer: Children with Fetal Alcohol Syndrome in Adoptive and Foster ...Beitissie1
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June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
Acetabularia Information For Class 9 .docxvaibhavrinwa19
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2. Definition
• Fragile X Syndrome is a condition that happens when
the body can’t make enough protein it needs for the
brain to grow and develop.
3. Causes
• Fragile X Syndrome is inherited
• The cause of FXS is genetic. FXS occurs when there
is a change in a gene on the X chromosome called
FMR1. The FMR1 gene makes a protein needed for
normal brain development. In FXS, the FMR1 gene
does not work properly. The protein is not made, and
the brain does not develop as it should. The lack of
this protein causes FXS. Other Fragile X-associated
4. Prevalence
• Fragile X Syndrome is the most common inherited
causes of learning problems and intellectual
disabilities.
• In the United States, about 1 in 4,000 boys and I in
8,000 girls are born each year with Fragile X.
• Nearly half of all children with fragile X syndrome meet
the criteria for a diagnosis of autism.
5. Diaganosis
• The average age of FXS diagnosis of boys is 35 to 37 months.
Girls are diagnosed at an average age of 42 months.
• Parents are usually the first to notice symptoms of FXS at about
12 months of age for boys and 16 months of age for girls.
– Parents reported having to visit a physician repeatedly before the
physician confirmed a developmental delay at an average age of 20
months of age for boys and 26 months of age for girls.
– About 16 months typically passed between professional confirmation
of a delay and the diagnosis of FXS.
• More than one third (37.6%) of families reported that more than
10 visits were required before the diagnosis of FXS
7. Developmental Signs and Symptoms
• Learning Problems, Especially for boys
• Developmental delays in sitting, crawling or walking
• Problems with speech and language
9. Social or Behavior Signs and Symptoms
• Not making eye contact
• Having trouble paying attention
• Flapping hands
• Being hyperactive
• Being afraid in new situations
• Being aggressive for boys
• Being shy for girls
• Not wanting to be touched
• Being bothered by certain sensations, such as bright light, loud
noises
10. Physical Signs and Symptoms
• Long face, ears, and chin
• Loose, flexible joins- flat feet
• Large testicles after puberty for boys
• Seizures in about 15 out of 100 boys and 5 out of 100
girls
11. Treatment
• There is currently no cure for Fragile X, although appropriate
education and medications can help maximize the potential of each
child. For very young children, early intervention is highly
recommended and can be very helpful. During school years most
children benefit from an Individualized Education Plan (IEP). Speech,
occupational, and physical therapy can help.
• Currently no medicines are specifically approved to treat Fragile X.
However, there are many medications to target specific symptoms.
• Without specific effective treatments, most boys and many girls
remain significantly affected throughout their lives. The cost to society
for treatment, special education, and lost income is staggering. The
need for research aimed at treatment is urgent.
12. Adult Life of Men and Women with FXS
• Adult Life of Men and Women with FXS
• A national family survey of adults with FXS showed that:
• About 44% of women with FXS achieved a high or very high level of independence in adult life.
– More than one third of women with FXS lived independently, often with a spouse or romantic partner, and
required no assistance with activities of daily living.
– The large majority of women had at least a high school diploma; almost half had full-time jobs (and typically
received benefits from their job).
– The majority had many friends and participated in many leisure activities.
• About 9% of men with FXS achieved a high or very high level of independence in adult life.
– The majority of men needed moderate to considerable assistance with activities of daily living and did not have
a high school diploma.
– One-fifth of men had full-time jobs; most did not receive benefits from their job.
– Less than one-third had developed many friends, and only half participated in many leisure activities
13. Cost
• study analyzing the employment impact and financial burden experienced by
families of children with FXS showed:
• About 47% reported that fragile X caused a financial burden.
• Over 62% of respondents stated that they had to change work hours or stop
work because of having a child with FXS.
• Among different components of FXS-related out-of-pocket expenditures, the
sum of medication and medical expenditures, including genetic testing,
accounted for 27% of the total. Spending on developmental assessments and
various therapies together accounted for 31% of the total.
• The strongest predictor of the family-level economic impact of fragile X was the
total number of co-occurring conditions among children who were affected.
•