Tag Archives: Girls

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?: Asperger Syndrome

Nancy asks…

Those diagnosed with Asperger syndrome, what was your experience with peer acceptance?

I am a college student.
I am doing a study of peer acceptance and those diagnosed with Asperger syndrome or high-functioning autism.
Mostly would like to know what happend at school with others.
I also have a 16 year old son with Asperger syndrome.
Any help would be greatly appreciated.

admin answers:

My son has AS, and all the kids in his class at school like him a lot, especially the girls. 🙂

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Question?: Rett Syndrome Research

Ruth asks…

What is difference betweeen these types of autism….?

Core autism and atypical autism
if you have used resources please state its for case study.
Thanks

admin answers:

A simple Google will find many sources on the web. In this way you will be able to find what you want and what fits your research. In the mean time here are a few of the many types of autism.
Autistic disorder. This is what most people think of when they hear the word “autism.” It refers to problems with social interactions, communication and imaginative play in children younger than 3 years.
Asperger’s syndrome. These children don’t have a problem with language — in fact, they tend to score in the average or above-average range on intelligence tests. But they have the same social problems and limited scope of interests as children with autistic disorder.
Pervasive developmental disorder or PDD — also known as atypical autism. This is a kind of catchall category for children who have some autistic problems but who don’t fit into other categories.
Rett’s disorder. Known to occur only in girls, Rett’s children begin to develop normally. Then they begin to lose their communication and social skills. Beginning at the age of 1 to 4 years, repetitive hand movements replace purposeful use of the hands.
Childhood disintegrative disorder. These children develop normally for at least two years, and then lose some or most of their communication and social skills.

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Question?: Rett Syndrome Pictures

Mandy asks…

I need to know more about autism, my little sister who i never see?

Ok, im 16 and my little sister Lexie lives with her real mom , we both have the same dad but different moms. I havent seen her since she was like 3 or 4 and shes now 8. shes very tiny and underdeveloped, but adorable., her mom told me she has learning disabilities and mild autism, i was gonna see if she would let Lexie come stay with me for a week so i can get to know her, but i just wonder how shes like.
any info??

admin answers:

My son has PDD-NOS which is on the Autism Spectrum. The Autism Spectrum is what they call a Spectrum because the severity and symptoms that children have differs greatly. There are five diagnoses that are under the Autism Spectrum Umbrella. These are Autism, PDD-NOS, Asperger’s, childhood disintegrative disorder, and Rett syndrome. PDD-NOS is the most common diagnoses. Asperger’s is the highest functioning of the Autism Spectrum Disorders which are also called Pervasive Development Disorders. Autism is more common in boys than girls, except for Rett Syndrome which affects mostly girls. I have been told by specialists that they have a saying that “If you have seen one child with Autism you have seen one child with Autism”. By that saying they mean that no two children with autism present the same.

Let me tell you a little about my son. When he was a baby I knew something was different. He was my third child so I just knew something was not right. He did not like to be held like my other kids did. He would let me feed him, but look at the ceiling fan while I did instead of into my eyes. When he was done eating he would want to get down. He did not like to be held much. As he got older I noticed that he did not play with toys like my other kids did. He liked to take them apart instead. He was a head banger and rocked side to side alot. When routines changed he always got very irritable and still does. He would play with his toys the same way all the time, and line them up. He began talking on time, but always talked about what he was thinking without holding proper conversations. His voice is monotone all in one high pitch. He does not understand others feelings, how his actions affect others, or facial expressions. He takes everything very seriously and does not understand sarcasm or jokes. He has high anxiety, gets frustrated easily, and has been agressive since he was two. He has sensory processing disorder which is very common with PDD. He has always had sensory issues and hated things too bright, too cold or hot, certain clothing, certain textures, etc. He has problems making friends, and does not play age appropriately.

What has worked for us: My son gets Sensory Integration therapy at his school where he has an IEP and is in a special classroom. He has been in counseling since he was three to help him understand his feelings, others feelings, and ways to better control his emotions. He is on medications to help him control his rages, anger, and sleep issues. I have found that schedules and routines are the most important things for us. I made him a picture schedule that works very well. If you want to email me I can send you more information and even pics of our picture schedule. I have gotten valuable information by getting my son several diagnostic tests such as a speeech evaluation, neuropsycological evaluation, Developmental Behavioral Pediatrician Evaluation, an EEG, an EKG, and even genetics testing. I think that the two most important things to do are to see a Developmental Behavioral Pediatrician because they are the doctors that most specialize in Autism Spectrum Disorders. Also a neuropsych evaluation will help understand how she thinks and how her brain works.

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Question?: Rett Syndrome In Boys

Michael asks…

I have an autistic daughter and the school only sees her for occupation therapy once a grading period.I think?

it should be weekly.Anyone out there who have autistic children know if this is normal or they are just sweepin her under a rug?

admin answers:

It should be AT LEAST weekly if not more. She should be getting other therapies also if she needs it like ST, PT, Augmentative, etc.

Just wondering…has she ever been tested for Rett Syndrome? Usually boys have autism and when girls are thought to have autism RS should be ruled out. Usually RS is highly misdiagnosed as autism or CP. There is a blood test for it but you usually have to ask for it. Www.rettsyndrome.org

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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 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 In Boys

Mandy asks…

can girls get diseases that are x linked?

or just boys?

admin answers:

Yes they can. It depends on the type of disorder. There are X-linked dominant disorders, where even 1 copy of the mutant allele will cause the disease. One example is Rett Syndrome. Girls get Rett, even with only one copy of the mutation. Boys usually do not survive.
If it is an X-linked recessive disorder, then a male will have the disorder with only one copy, but a female will usually need 2 copies. This is rare, but CAN happen. For example, red-green colorblindness. A male with the mutation on the X will have it. If he mates with a woman who is a carrier, she has a 50% chance to pass on the mutation as well. So it is possible, but much less common than males.
(the other possibility is skewed X-inactivation, but I doubt you need that much detail)

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Question?: Rett Syndrome Causes

Maria asks…

What genotype must the sufferer of Rett Syndrome have; homozygous or heterozygous?

admin answers:

They affected are usually heterozygous. The disease is inherited as an x-linked dominant trait. More than 95% of occurences are seen in individuals with no familial history. A single mutation is enough to cause the disease. Mostly girls are affected (male fetuses die before birth).

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