Tag Archives: X Chromosome

Question?: Rett Syndrome In Boys

Lisa asks…

what is Rett’s syndrome?

admin answers:

What is Rett syndrome?
Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder. It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.
Http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=16&Itemid=1000

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Question?: Rett Syndrome Pictures

Carol asks…

what is Rett Syndrome?

admin answers:

Rett Syndrome in a neurodevelomental disorder that occurs almost exclusively in girls. They seem to develop normally in the first year of life, then develop poor muscle tone and exhibit strange movements. Part of the clinical picture is very similar to autism, and is it classified as an autistic spectrum disorder. Neuromuscular deterioration continues with contractures, scoliosis and uncontrolled movements called dystonia. A defect in the MECp2 gene on the X chromosome is thought to be the cause of this tragic disorder.

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Question?: Rett Syndrome In Boys

Helen asks…

What is Rett Syndrome?

What is the disorder and how do you get it?
What are the symptoms and how is it diagnosed?
How is it treated? Are there any possible cures?

admin answers:

Its a genetic mutation in the MEPC2 gene on the x-chromosome (which is why most boys who have it will die before birth or in ealry infancy, b/c they only have one x & girls have 2 so if one is “bad” the other still one keeps her alive)

usually diagnosed through a blood test, looking for said gene mutation. If mutation is not found it can be diagnosed thorough the “stages” criteria (go on there website retthelp or rett.org) there are 4 stages- the first one usually over looked b/c the symtpoms are usually milder then the rest.

Treatment is according to sympotoms but can range from scoliosis surgery, GI tube being put in, Anti-seizure medicines, physical therapy, eye gaze communication, & many more
People also try alternative/holistic treatments like accupuncure, massage therapy, etc..

There is no cure…YET!!
They have been able to genetically engeneer a mouse to have Rett syndrome & have been successful in reversing it 100%
& there is always hope that one day I will wake up & hear that its been cured in a living human being. Also they are trying to raise money to try EVERY drug on the market on Rett syndrome mice to see what effects it may have on the syndrome.

I believe there are possible cures..but as of right now we just dont have it

Also as a side note: the range of severity greatly depends on how many of the mutated x’s are activated/deactivated

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Question?: Rett Syndrome Causes

Michael asks…

what is some current research for rett syndrome?

i’m writing it in my brochure and i can’t find it anywhere!

admin answers:

Here are some great facts! Brochures are great when they are loaded with lots of facts and graphics. Use some of these:

Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

Good luck in your work! 🙂

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Question?: Rett Syndrome Pictures

Susan asks…

Please dont make fun of me – I’m very worried about this?

Okay this is probably a stupid & its’ kind of hard to explain so please bear with me.

I’ll start by saying I believe in signs ,
When I was pregnant I was cleaning up at work & found a heart pendant that had the words “its a girl” engraved in it & something inside of me “just knew” it was going to be a girl – I did have a girl (okay 50/50 chance but still),

Also when my husband & I met 5 years ago it was an incredibly rainy summer season & the day we met was one of the only sunny days we had & my fortune cookie that day said “the sun is shining & love is in the air” (we would have never of met if it had rained that day)

5 years later we now have a beautiful baby girl who will be 14 months in a couple of days. She seems to be developing normally & is doing great but I can’t seem to shake this uneasy feeling that everything’s not so great with her. I should also mention that I am a first time mom & I worry ALOT. I was reading an article on autism & learned about a rare (1 in 15000 girls) condition called Rett Syndrome where a female baby appears to be developing normally the first 6-18 months but then due to a mutation in the X chromosome their skills regress – often to the point of not being able to walk, cant talk, cant control hand movements, ect…

This is where the “signs” come in. My husband & I recently purchased a sailboat & we spent the day cleaning it -in the cabin I found a shirt for a Rett Syndrome Strollathon Event. It’s such a rare disorder it just seemed like it had been waiting there for ME to find it. Since finding the shirt I can’t shake the feeling that this is a bad sign (I was worried about autism even before this-so finding the shirt just intensifies my worry)

Also, now I notice every time my daughter sticks her fingers in her mouth or claps her hands for no reason or holds her hands together for more then a few seconds (the “first stages”) & some days she seems a lot more clumsy then other days or she doesn’t babble/talk as much (also considered “first stages”)

Am I looking into this to much? Is my mind playing tricks on me b/c im so scared?

admin answers:

Hey there,

You are going through very normal stages of 1st time mom syndrome. If I were you, and had the thoughts and concerns and belief in signs and then stumbled across that shirt, I’d probably have lost it, too. I don’t know if it helps you to know this but pretty much every mom I know spends the last several months before age 2 watching at some level for any sign of regression that may signal an autism spectrum disorder, and one by one, our kids have all been okay.

But that isn’t the kind of information that helped me. What helped me was sitting back, taking a deep breath, and thinking, IS THIS in any way under my control? Other than cutting out some common allergens a few weeks before his 2 year needle so that his body doesn’t have to be fighting too much at the time, there is nothing at all I can do.

The next thing I do is think, Would I love my son any less if he were autistic or if anything else happened to him? Nope. I’d just have a lot more research to do about what supports are available in our area, and what exercises I would need to do with him.

That’s my way of trying to control the uncontrollable… I try to picture if it did happen… End of the world? No. Just different. More challenging. But, out of challenge comes strength and wisdom, which are two pretty good things.

No one here can say whether your daughter will develop Rhett’s. I can say for absolute certain that the odds are very highly against it, and that it is very normal around this age for kids to regress a little in one area of development while they focus on another area. And that is probably what you’re seeing with your daughter.

Try not to worry too much. No matter what happens, you have a beautiful little girl, who is clearly at the centre of your heart.

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Question?: Rett Syndrome Causes

Thomas asks…

What are the differences in sex chromosomes that underlie sex linkage inheritance patterns?

admin answers:

As you know, a female has two X chromosomes, and a male has an X and a Y.

If a gene for a condition lies on the X chromosome, we call this an X-linked condition. Typically X-linked conditions are noticeable in males rather than females, because males have only one X chromosome. Females have a second X which stills functions properly, often preventing the condition from occurring if their other X has a changed gene.

Affected males often don’t reproduce, but if they do, they will pass their one damaged X to ALL of their daughters, since they can’t pass a Y to a female. Therefore, all of their daughters must be carriers of this condition.

Carrier daughters have a 50-50 chance of passing their damaged X to their children, either sons or daughters, with each pregnancy. If they pass it to a daughter, she will also be a carrier. If they pass it to a son, he will be affected with the condition.

An X-linked condition which is well-known is hemophilia, a bleeding disorder. If you looked at a family tree where hemophilia is present, you’ll see several affected males with hemophilia in different generations and no affected women, and you will not see any male to male transmission, only female to male.

There are some conditions which are X-linked and do affect women, such as RETT syndrome, a severe neurological disorder. Syndromes like this are typically severe, and are said to be X-linked dominant, as it takes only one damaged X to cause the disorder. The other X keeps the disorder from being lethal. In this case, if a male inherited the damaged X, if he were born alive he would likely not survive long. Typically these conditions are not inherited because those who are affected will not be able to reproduce. Instead, these conditions are caused by new mutations in the offspring or germline mutations in parents.

Note that I’m not discussing Y-linked disorders much because they are much less common. The Y has very few genes compared to all other chromosomes, and its main function is to cause a male to become male during embryogenesis. There’s a region on Y called SRY which is necessary for male-ness. A child with a Y who is structurally a girl may be missing that region of the Y. That about sums it up for the Y, in brief.

Hope that answers your question!

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Question?: Autism Symptoms 18 Months

Lizzie asks…

how often is rhetts syndrome misdiagnosed as autism?

My daughter who is now 32 months old was diagnosed w/a profound case of autism at 18 months old, I do know something is wrong w/her but i do second guess her diagnoses because there seems to be something more but none of the doctors seem to agree with me and think i’m crazy, i’m just not sure.

admin answers:

Hello Hillry…..Since your daughter was diagnosed at age 18 months with profound autism, it was most probably the most logical diagnosis her doctors could find for her unusual behavior patterns and impaired development. Rett Syndrome, while not common—-but neither is it what I would call “rare” is often not considered as a differential diagnosis at that age. It’s just “easier” to call it “autism”….but the truth of the matter is that Rett Syndrome progresses in stages, and in its very early stage (called Stage I or early onset) very closely resembles a constellation of signs and symptoms associated with autism. Now that your daughter is older, and I suspect she is demonstrating other symptoms that concern you, I would encourage you to persist with her doctors, asking that a genetic test be performed, specifically on the X chromosome where the MECP2 gene is located. Rett Syndrome is caused by a mutation or alteration of this gene.
Over the years of practice, I have learned that if “MOM” thinks there is something wrong with her child, chances are she’s Right! So please request that this genetic test be run and put your mind at ease.

I hope this helps some. I wish you and your daughter well.

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Treating Fragile X Syndrome Symptoms By Boosting Natural Marijuana-Like Brain Chemicals

Main Category: Autism
Also Included In: Anxiety / Stress;  Psychology / Psychiatry
Article Date: 27 Sep 2012 – 0:00 PDT Current ratings for:
Treating Fragile X Syndrome Symptoms By Boosting Natural Marijuana-Like Brain Chemicals
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American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.

The work indicates potential treatments for anxiety and cognitive defects in people with this condition. Results appear online in Nature Communications.

Daniele Piomelli of UC Irvine and Olivier Manzoni of INSERM, the French national research agency, led the study, which identified compounds that inhibit enzymes blocking endocannabinoid transmitters called 2-AG in the striatum and cortex regions of the brain.

These transmitters allow for the efficient transport of electrical signals at synapses, structures through which information passes between neurons. In fragile X syndrome, regional synapse communication is severely limited, giving rise to certain cognitive and behavioral problems.

Fragile X syndrome is caused by a mutation of the FMR1 gene on the X chromosome. People born with it are mentally disabled; generally experience crawling, walking and language delays; tend to avoid eye contact; may be hyperactive or impulsive; and have such notable physical characteristics as an elongated face, flat feet and large ears.

The researchers stress that their findings, while promising, do not point to a cure for the condition.

“What we hope is to one day increase the ability of people with fragile X syndrome to socialize and engage in normal cognitive functions,” said Piomelli, a UCI professor of anatomy & neurobiology and the Louise Turner Arnold Chair in the Neurosciences.

The study involved mice genetically altered with FMR1 mutations that exhibited symptoms of fragile X syndrome. Treated with novel compounds that correct 2-AG protein signaling in brain cells, these mice showed dramatic behavioral improvements in maze tests measuring anxiety and open-space acceptance.

While other work has focused on pharmacological treatments for behavioral issues associated with fragile X syndrome, Piomelli noted that this is the first to identify the role endocannabinoids play in the neurobiology of the condition.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. Kwang-Mook Jung and Nicholas DiPatrizio of UCI; Marja Sepers, Olivier Lassalle, Daniela Neuhofer, Henry Martin, Melanie Ginger and Andreas Frick of INSERM; and Christopher Henstridge and Istvan Katona of the Hungarian Academy of Sciences contributed to the study, which received support from INSERM and the U.S. National Institute on Drug Abuse (grant number DA-012447).
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Boys More Affected By Mutations In Autism Susceptibility Gene

Main Category: Autism
Also Included In: Genetics;  Men’s Health
Article Date: 15 Jul 2012 – 0:00 PDT Current ratings for:
Boys More Affected By Mutations In Autism Susceptibility Gene
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Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls.

The mutations in AFF2 appeared in 2.5 percent (5 out of 202) boys with an ASD. Mutations in X chromosome genes only affect boys, who have one X chromosome. Girls have a second copy of the gene that can compensate.

The results were published in the journal Human Molecular Genetics.

“Our data suggest that AFF2 could be one of the major X-linked risk factors for ASD’s,” says senior author Michael Zwick, PhD, assistant professor of human genetics at Emory University School of Medicine.

The finding bolsters a growing consensus among geneticists that rare variants in many different genes contribute significantly to risk for autism spectrum disorders.

The mutations in the AFF2 gene probably do not cause ASDs all by themselves, Zwick says.

“We do not think that the variants we have identified are monogenic causes of autism,” he says. “Our data does support the idea that this is an autism susceptibility gene.”

In some situations, mutations in a single gene are enough by themselves to lead to a neurodevelopmental disorder with autistic features, such as fragile X syndrome or tuberous sclerosis complex. But these types of mutations are thought to account for a small number of ASD cases.

Recent large-scale genetic studies of autism spectrum disorders have identified several “rare variants” that sharply increase ASD risk. Scientists believe rare variants could explain up to 15 or 20 percent of ASD cases. However, until now no single variant has been found in more than one percent of ASD cases.

Working with Zwick, postdoctoral fellow Kajari Mondal and her colleagues read the sequence of the AFF2 gene in DNA from 202 boys diagnosed with autism spectrum disorders. The patient samples came from the Autism Genetic Resource Exchange and the Simons Simplex Collection.

Tests showed that in four cases, the affected boys had inherited the risk-conferring mutations from their mothers. One boy had a “de novo” (not coming from the parents) mutation. Compared with X-linked genes in unaffected people, mutations in AFF2 were five times more abundant in the boys with ASDs.

The AFF2 gene had already been identified as responsible for a rare inherited form of intellectual disability with autistic features. This effect is seen when the AFF2 gene is deleted or silenced completely.

AFF2 has some similarity to FMR1, the gene responsible for fragile X syndrome. Like FMR1, it can be silenced by a triplet repeat. In these cases, the presence of the triplet repeat (three genetic bases repeated dozens of times) triggers a change in chromosomal structure that prevents the gene from being turned on.

In contrast, the mutations Zwick’s team found are more subtle, slightly changing the sequence of the protein AFF2 encodes. Little is known about the precise function of the AFF2 protein. A related gene in fruit flies called lilliputian also appears to regulate the development of neurons.

Zwick says one of his laboratory’s projects is to learn more about the function of the AFF2 gene, and to probe how the mutations identified by his team affect the function. His team is also working on gauging the extent to which other genes on the X chromosome contribute to autism risk.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. The research was supported by the National Institute of Mental Health (MH076439) and the Simons Foundation Autism Research Initiative.
Reference: K. Mondal, D. Ramachandran, V.C. Patel, K.R. Hagen, P. Bose, D.J. Cutler and M.E. Zwick. Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Hum. Mol. Genet. Advance access. (2012). doi: 10.1093/hmg/dds267
Emory University Please use one of the following formats to cite this article in your essay, paper or report:

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Emory University. “Boys More Affected By Mutations In Autism Susceptibility Gene.” Medical News Today. MediLexicon, Intl., 15 Jul. 2012. Web.
15 Jul. 2012. APA

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‘Boys More Affected By Mutations In Autism Susceptibility Gene’

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