Tag Archives: Females

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 Causes

Mark asks…

is rett syndrome caused by a single gene or more than one gene?

admin answers:

Its is hard to say, Please read the following it seems like a lot but it’ll give you a better idea:

Most cases of classic Rett syndrome are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain development. The MeCP2 protein likely plays a role in forming connections (synapses) between nerve cells. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of Rett syndrome.

Males with mutations in the MECP2 gene often die before birth or in infancy. A small number of males with a MECP2 mutation, however, have developed signs and symptoms similar to those of classic Rett syndrome. Some of these boys have an extra X chromosome in many or all of the body’s cells. The extra X chromosome contains a normal copy of the MECP2 gene, which produces enough of the MeCP2 protein for the boys to survive. Other males with features of Rett syndrome have mutations in the MECP2 gene that occur after conception and are present in only a fraction of the body’s cells. In rare cases, researchers have discovered that the MECP2 gene is abnormally duplicated in boys with intellectual disability and some developmental problems characteristic of Rett syndrome.

Mutations in the CDKL5 gene cause an atypical form of Rett syndrome in females called the early-onset seizure variant. The CDKL5 gene provides instructions for making a protein that appears to be essential for normal brain development. Although the function of this protein is unknown, it may play a role in regulating the activity of other genes. Researchers are working to determine how mutations in the CDKL5 gene lead to seizures and the features of Rett syndrome in affected girls.

Also the following is what someone had written on the rettnet

“Rett syndrome is a clinical diagnosis. This means saying someone has Rett
syndrome depends on their clinical picture, regardless of whether a mutation is present or not. To determine whether a mutation is
responsible in your daughter would require one or both parents to be
tested looking specifically for the mutation. Typically one parent (either one) is tested first. If not found in the 1st parent, proceed to testing the 2nd parent. If a mutation is found in either parent, it is likely a polymorphism which is
a non-disease producing variation. If no mutation is found in eitherparent, then it likely to be signficant and responsible for whatever
difficulties she demonstrates. Again, Rett syndrome is a clinical diagnosis, so it is possible to have a non-polymorphism mutation in this
gene and not have Rett syndrome”

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Question?: Treatment For Autism Children

Thomas asks…

What are the chances of us having an autistic child?

My husband’s niece has Asperger Syndrome. Are the chances higher than average for us to have a baby with AS or autism?

admin answers:

There are a few different spectrums of Autism and ASperger syndrome is one of them,it is less severe and usually occurs in females..Autism is becoming more frequent yet doctors and scientists truly dont know what the cause is but they do believe it may be genetic,and since it usually isnt diagnosed until the ages between 2 and 4,it would be highly unlikely to detect beforehand if you and your husbands child will develop it..still yet,you and your husband should see a genetic counselor and have tests run before getting pregnant to rule out any other possible genetic abnormalities…the good news though,is that even with Autism reaching its all time high,the treatments are getting better and with more success…hope this helped! Good luck…

For more info visit
http://health.yahoo.com/nervous-overview/autism-topic-overview/healthwise–hw152186.html

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Question?: Rett Syndrome Treatment

Lizzie asks…

pedigree showing transmission of rett syndrome?

admin answers:

Rett syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in females but can occur rarely in males.

Infants and children develop normally until about 7 to 18 months of age, when they may begin to lose previously acquired skills. Other symptoms include slowing of head growth; development of distinctive, uncontrolled hand movements, such as hand clapping, rubbing, or “wringing”; and impaired control of voluntary movements required for coordination of walking; autistic-like behaviors; breathing irregularities; difficulty eating and swallowing; slowing of growth, and seizures.

There is no cure; treatment is symptomatic.

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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?: Asperger Syndrome Test

William asks…

What are the chances of a female getting diagnosed with Aspergers syndrome in the UK?

I think I may have Aspergers syndrome. I will ask for a referall soon. I am a young female adult will I be taken seriously? Thanks

admin answers:

This is a good question and I have some knowlegde of this.

The likelyhood is that, unless you are obviously disabled looking, your GP won’t think you have it or won’t think you will benefit from having a diagnosis. However, often when you ask a UK GP for a referral, for whatever reason, people often get one, so you might be referred. The problem might then be though is where you are referred to and what diagnostic services are avilable in your local area of the UK. There aren’t many places who know about Aspergers in females and how it presents. People who do know about Asperger’s in females say that females are less aggressive, tend not to have meltdowns that boys do, have better social skills than boys, are more empathetic than boys for example. This means that females are less likely to be diagnosed with Aspergers and many diagnostitians won’t know how to spot it. Tony Attwood is a well renouned expert on Asperger’s including Asperger’s in females so you might find his material useful.

Another problem is that as you are a female adult you have to provide informants who knew you as a child and remember you well as a child. Parents can forget how you were in some ways and are unable to answer the specific questions assessors ask and are sometimes unable to give reliable answers, so a diagnosis might be made on shakey grounds. As a young female adult though your parents’ memory might not be so bad.

So, I think the chances aren’t great that an adult female will be confidently diagnosed. If you were looking to have an assessment for a female child who is having serious difficulties then the chances are higher.

Another quesion is why you would want to be diagnosed with it and how you think it would be helpful. Are you looking for support? There are hardly any services for people with Aspergers. If it is for a child or young person who is at school or college, then it would be helpful in terms of having a support worker, a study helper, computer equipment, extra time in tests etc that is if any of these things are needed. Not all people with Asperger’s need help like this though. You could get this help by being diagnosed with dyslexia though. The difference with a dyslxia diagnosis though is that it only last 2 years and you have to pay for the dyslexia test again if you need extra time for exams (which I think costs about £200 or more). If you have an Asperger diagnosis then I think accommodations for that would stand for life.

If you are an adult female with Asperger’s then be prepared that you won’t recieve any support unless you have mental health problems and need therepy from a psychiatrist or a psychologist – which you would get just the same as if you did not have Asperger’s. So, having an Asperger’s diagnosis wouldn’t make any difference to the services you get.

If you live in London there is an organsation called Prospects who offer support. I don’t know how useful they are.

I know a bit about this issue actually, so if you have any more questions then feel free to e-mail me. Below is a YouTube clip of Tony Attwood talking about females with Asperger’s that might interest you. I have lots of other clips on the subject of Asperger’s in females if you’re interested.

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Question?: Rett Syndrome Awareness Month

James asks…

Please read & pass along?

October Is Rett Syndrome Awareness Month

I know this isn’t really a question, but being that there are alot of parents on Y/A I really just wanted to bring it to everyones attention

What is Rett Syndrome:

Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first (first 6-18 months) , but then stop developing and lose previous skills and abilities.
For instance, they stop talking even though they used to say certain words. (95% can’t speak & those who can only say one or two words) They lose their ability to walk properly. (over 50% are wheelchair bound) They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands, making something as simple as playing with their toys practically impossible & signing for communication also impossible.

If you are interested in learning more please take the time to follow these links
http://www.rettsyndrome.org/
http://www.ninds.nih.gov/disorders/rett/…
http://www.nichd.nih.gov/health/topics/r…

or go to Youtube & type in Rett Syndrome to see first hand what this devastating disease does to these innocent kids =(

If nothing else please pray for a cure for these beautiful silent angles & their families

thanks you
* not trying to take away from Breast cancer awareness-they can share the month! Also with breast cancer the rate of surviving is very high-thanks to in large part research & awareness
Thats all I ask for is awareness & hopefully a cure =)

admin answers:

I thought it was breast cancer awareness month

but thanks

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Question?: Rett Syndrome Research

Chris asks…

Who all here thinks autism is genetic? If you do not think this is the cause-then what do you think?

I have a son with autism and a brother with autism.I feel autism is genetic.

admin answers:

I work for an agency that serves people with developmental disabilities. Based on our own clients, it looks to me like there are several causes, and it is genetic at least some of the time.

One specific cause of autism is Rett’s Disorder; it’s a certain type of brain disorder that affects only females and appears to have a definite genetic component.

Some of our clients with Autism also have other developmental disabilites such as Down’s Syndrome, Cerebral Palsy, Epilepsy, etc. Sometimes it can be traced to brain damage at birth.

We do have several clients from the same families who have the same or similar disorders; such as Austism.

I noticed one thing; I have seen where it’s fairly common for children diagnosed with Autism to have a relative (parent, aunt, uncle or aunt, grandparent) who has a mental illness such as schizophrenia or bipolar disorder. I don’t know if any link has been proven.

The Center For Disease Control did research on autism (some of the information they used was from our agency). They found no connection between autism and the mercury in vaccines.

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Question?: Asperger Syndrome Quiz

John asks…

Is this part of aspergers or do I have a personality disorder?

I have asperger syndrome but im wondering if i have dependant personality disorder.
Im scared that my friends will leave me
Im very submissive and let others make decisions for me
If im in a relationship with someone i want it to last forever
Im very sensitive
I get emotionally attached

Is this part of aspergers? I dont want to have this disorder. An online test said i have it. Plz help
I have been professionaly diagnosed with severe aspergers
But an online test said i have a personality disorder
I have social anxiety too…

admin answers:

Only a professional can diagnose you, and nearly every online “personality disorder” quiz I have taken has given me numerous ideas as to how I might be diagnosed. The problem is everything you listed is on a continuum and you didn’t indicate where you fall at on it. A lot of people are, at some level, afraid their friends will leave them. Some people have a submissive personality and others have dominant and some are in between. Most people who care about the person they are in a relationship with want it to last forever. Everyone gets emotionally attached. A lot of females feel that they are “sensitive”.

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Question?: Rett Syndrome Research

John asks…

What are the chances of my children having autism?

If my wife and her sister are autistic (the rest of the family is fine) , what are the chances that our children will be autistic? Is it true that autistic people often have normal children?

admin answers:

Do they actually have a diagnosis of autism, if so have genetics been ruled out. Old school (remember there is a great deal of on-going research) with a history of autism in the family there was an 10% increased risk.

If there is a genetic condition that results in a diagnosis of autism or if it results in the individual having numerous characteristics of autism the odds could change drastically. A visit to a genetic counselor might not be a bad idea – rule out conditions such as Angelman, Fragile X or Rett Syndrome.

If there are female relatives with a history of early menopause, or older relatives with a history of Parkinson Disease or balance/gait problems with dementia I’d make Fragile X a priority to rule out (these are conditions more prevalent in the fragile X carrier population.) Females with Fragile X (carrier or full-mutation) have a 50/50 chance of passing it on with each pregnancy.

Anyone can have “normal” children and keep in mind we might all define “normal” differently.

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