Tag Archives: Rett Syndrome

Question?: Rett Syndrome

Donald asks…

Does anyone know where I can find information on males with Rett Syndrome?

I need information on how it affects their physical health. And most importantly there bones. I only need this information on males, and not females. Since males don’t usually survive birth if they have retts then it is making it hard to find information on it. Please help?

admin answers:

Hello…my daughter has Rett Syndrome so I know a little bit. Males usually do survive birth but don’t typically live for more than a year. Males who have an extra X chromosome (XXY instead of XY) are like girls with RS and have a comparable lifespan and symptoms. I think you are going to have a hard time finding info on bone denisity. I don’t think it is publicly available even on the female population. Research is still ongoing and the majority of it just started in ’99, so I doubt you will find any info. My daughter is part of the RS natural history research and they have not published the info yet, but bone density is one of the things it will cover. But you can try searching these sites: www.rettsyndrome.org and www.rsrf.org

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Question?: Rett Syndrome

John asks…

Why are diseases that are found to be curable/reversible in mice?

not in humans?

Serious answers only please.

Asking b/c Rett Syndrome ( a devastating neurological disorder) was completely reversed in mice like 3 years ao & I don’t understand why the same basic concepts that made that possible can’t be used in living humans suffering from this horrible disease

OCTOBER IS RETT SYNDROME AWARENESS MONTH
Care Today-Cure tommorow !

admin answers:

Great question and thanks for posting about Rett Syndrome and helping raise awareness!

In the experiments on mice (1 1/2 yr ago) they silenced the MECP2 in the mice (with insertion of a “stop cassette”), and then un-silenced it to see if the effects would be permanent like they believed they would be. So the mice didn’t actually have Rett Syndrome and in RS there is no “stop cassette” built into it to turn on again. So the real outcome of this study showed that once a cure/treatment is found, these girls could possibly be normal again and not neurologically damaged permanently…this is amazing in itself but doesn’t mean we are any closer to a cure.

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Question?: Rett Syndrome

Maria asks…

Making a brochure on Rett Syndrome for Biology Class!?

In my Biology class, I need to make a brochure on Rett Syndrome.
I have all the information I need and everything, but I need to get a catchy title for the front page of the brochure,
any ideas?
Thanks!

admin answers:

How about: “Silenced. The devastating impact of Rett Syndrome”

or something like that.

Thanks for doing a project on Rett Syndrome. We are always happy to hear when people raise awareness no matter how big or small 🙂

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Question?: Rett Syndrome Causes

Sandy asks…

Is my baby just delayed, or is something wrong?

Hi, my daughter will be eleven months old on the 30’th, and she can’t crawl, sit up from a lying position, walk, pull herself up to standing position, or stand at all on her own. All she can do is roll around and sit up (when I sit her up). She can stand with help. She has just started eating a little harder foods like puffs and toast, and just mastered the pincer grasp. I am worried about her large motor skill development though. Is she just a late bloomer, or do you think something may be wrong?

admin answers:

Well, yes she’s definitely delayed but the thing you have to worry about is the cause of the delays. You need to take her to a neurologist and geneticist to investigate the cause. My daughter had the same problems…she turned out to have Rett Syndrome. I’m not trying to scare you, there are a lot of possible causes.. Some severe, some not so severe. If it was just motor problems from hypotonia (low muscle tone) I would not be too worried but she seems to have other delays that would indicate global developmental delays meaning possibly a larger problem. It may be just mild cerebral palsy and she will eventually catch up but definitely get her checked out to rule out other things. Also make sure they test for Rett Syndrome…my daughter has this and it is commonly misdiagnosed as other things. Best of luck to you and I hope you find the cause.

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Question?: Rett Syndrome Research

Sandy asks…

rett syndrome-please help!?

Hi all> I asked this question before but didnt get any responses

Im doing some research on the genetic disorder Rett Syndrome (RS) & I am looking for some first hand accounts of the early stages
Ive frequented IRSF & MANY other rett syndrome pages but I am really looking for some information from people who have dealt with it on a hands on basis>
My biggest area of interest/curiosity is about the first “signs”

what were your first clues that something wasnt right
was it drawn out or did it just seem to happen overnight

admin answers:

I never had it but wanted to help. This is what my research came up with,
Stage I, called early onset, generally begins between 6 and 18 months of age. Quite frequently, this stage is overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts for a few months but can persist for more than a year.

Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. This stage may have either a rapid or a gradual onset as purposeful hand skills and spoken language are lost. The characteristic hand movements begin to emerge during this stage and often include wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth. Hands are sometimes clasped behind the back or held at the sides, with random touching, grasping, and releasing. The movements persist while the child is awake but disappear during sleep. Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing is usually normal during sleep. Some girls also display autistic-like symptoms such as loss of social interaction and communication. General irritability and sleep irregularities may be seen. Gait patterns are unsteady and initiating motor movements can be difficult. Slowing of head growth is usually noticed during this stage.

Stage III, also called the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years. Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with less irritability, crying, and autistic-like features. An individual in stage III may show more interest in her surroundings, and her alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives.

The last stage, stage IV — called the late motor deterioration stage — can last for years or decades and is characterized by reduced mobility. Muscle weakness, rigidity (stiffness), spasticity, dystonia (increased muscle tone with abnormal posturing of extremity or trunk), and scoliosis (curvature of the spine) are other prominent features. Girls who were previously able to walk may stop walking. Generally, there is no decline in cognition, communication, or hand skills in stage IV. Repetitive hand movements may decrease, and eye gaze usually improves.

Hope it helps.

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Question?: Rett Syndrome In Boys

James asks…

Is Rett Syndrome A Sex-Linked Disorder?

– How is the disorder diagnosed?

– Is it sex-linked? Is it a mutation? Is it due to heredity?

– What types of treatment there are for the disorder?

– Any other important information?

admin answers:

It affects girls and boys but for boys it is deadly usually before birth or up to a year old. They typically aren’t diagnosed because of their early demise. Its diagnosed by a bloodtest for 75% of cases and the other 25% are diagnosed by meeting the criteria. Treatments are for each individual symptom or problem. For example seizures are treated similar to any other person with seizures. It is 5% hereditary but mostly sporatic.

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Question?: Rett Syndrome Treatment

Carol asks…

Pervasive Developmental Disorder…?

What is it??? What are the causes? What does it do? How to get rid of it if you can……

THANKS !
PLEASE ANSWERRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRR

admin answers:

Pervasive developmental disorders cause abnormal development, including social and communication development. The symptoms appear early on – by the age of 3 at least, except in one of the disorders – and last throughout the lifetime. There are five of them: autism, Asperger’s syndrome, childhood disintegrative disorder, Rett syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). Autism, Asperger’s, and PDD-NOS are called the autism spectrum.

Symptoms of autism include difficulty socializing and communicating with others, delayed speech, lack of eye contact, difficulty interpreting nonverbal signals, intense fixations and interests, repetitive or compulsive movements, poor motor coordination, and abnormal sensory processing. The severity of these symptoms varies considerably. Asperger’s syndrome is a mild and high-functioning form of autism. The symptoms are the same except there is no speech delay. PDD-NOS is when someone has some autistic traits and significant impairment, but does not meet the diagnostic criteria for another PDD. These disorders have a genetic basis, but researchers have not yet uncovered the specifics. Some people believe environmental factors also play a role.

Childhood disintegrative disorder is when a child appears to be developing normally, then suddenly regresses sometime after the age of 3. The cause of this disorder is unknown. Rett syndrome occurrs almost exclusively in females. Infants with this disorder experience regression between 6-18 months of age. Symptoms include lack of speech, seizures, sensory problems, poor motor coordination, growth abnormalities, and repetitive movements. It is caused by a gene mutation on the X chromosome.

None of the PDDs are curable. There are many treatments available, including occupational therapy, cognitive behavioral therapy, applied behavior analysis, speech therapy, social skills training, behavior therapy, and certain medications.

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Question?: Rett Syndrome Research

Thomas asks…

rett syndrome – pleaes help!!!!!!!!?

Hi all> I asked this question yesterdaybut got very few responses – Most that did respond gave me generic websites with a laundry list of symtopms that I am already aware of
I AM LOOKING FOR PERSONAL ACCOUNTS PLEASE
Im doing some research on the genetic disorder Rett Syndrome (RS) & I am looking for some first hand accounts of the early stages
Ive frequented IRSF & MANY other rett syndrome pages but I am really looking for some information from people who have dealt with it on a hands on basis>
My biggest area of interest/curiosity is about the first “signs”

what were your first clues that something wasnt right
was it drawn out or did it just seem to happen overnight
PLEASE DONT COPY & PASTE INFO FOUND ON RETT SYNDROME SIGHTS!!! IF THAT WERE WHAT I WERE LOOKING FOR I COULD DO IT MYSELF!

admin answers:

I’m sorry that you haven’t found much help here- why not find an internet forum for Rett Syndrome? I’m sure you’d get a lot more informative answers. Perhaps join CafeMom and find a Rett Syndrome group. Or poll some people on the IRSF website?

You’re at a generic internet forum at the moment, it might be tough to come across people who have experienced a very specific illness. Try going to a more specific internet forum for more information.

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Question?: Autism Signs And Symptoms

David asks…

Do children with autism have a bigger shaped head?

I am researching autism in children under 3 right now. My friend and I have been discussing my son. We believe, my son is showing signs of autism. My friend said he has autistic children in his family and those children have big heads. Like rounder in the back of the head.

Does anyone know if this is typical in autism?

admin answers:

It’s typical of autism.

Http://www.sciencedaily.com/releases/2007/12/071208092451.htm

In fact, all children who suffer severe stress in early infancy–premature birth, caesarean birth, surgery or severe illness shortly after birth, etc– experience rapid neuronal overgrowth.

The big exception is a supposed form of autism called “Rett Syndrome” where one of the symptoms is microcephaly.
Http://en.wikipedia.org/wiki/Rett_syndrome

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Question?: Rett Syndrome Treatment

Joseph asks…

Is autism genetic? I just saw it on the news.?

I just saw a blip on the news that the most recent study has revealed that it is a genetic disease. The scientists are happy because now they can work on a medicine to cure it? Please tell me if this is true.

admin answers:

I think you may be talking about the study on Rett Syndrome which is in the autistic spectrum. RS was found to be genetic in ’99 and there is actually a genetic test for it (my daughter has RS). It is believed that autism is genetic because of its similarities to RS and that it tends to run in families. Yes, a “cure” is possible and RS symptoms have been reversed in mice in this study. You can’t reverse the gene, but you can reverse symptoms with treatment…at least in mice. Its still probably many years before RS becomes treatable and even farther out for autism because they still have not find the gene that causes it yet.

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