Tag Archives: Rett Syndrome

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?: Rett Syndrome

Susan asks…

What would I go to school for if I was looking for a career in ?

finding cures for people with conditions caused by genetic mutations ( example rett syndrome is a nuerological disorder caused by a gene mutaion – so would you go for nureology or genetic medicine?)

Thank you !

admin answers:

If the schools you’re looking into offer undergrads programs in neurology or genetics then those would be awesome for the fields your planing to go through. But in reality you’d have to get a phD or at least your masters to do any decent research in labs. You can also head into biology and just focus your work load in genetics. It’s best to ask the guidance councilor at the school for your best options. Good luck

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Question?: Rett Syndrome In Boys

Betty asks…

Supplemental services for Special education Speech , OT, APE?

After 2 1/2 very unsuccessful years of the local school district instructing my special needs child (Autism) and her failing to meet her educational goals, I have decided to not waste anymore time and Homeschool her myself. The down side is that I am being told that if she does not attend their school I will lose all her support services (speech, OT APE) First question is that legal under FAPE? Second question does anyone know of some good materials that I could use to get her services in the above areas I cannot afford private therapy. Moreover, feel stuck….? She is a bright child but needs to be taught to her needs and her method of learning not theirs….

admin answers:

Hello…I went through a similar situation. My 3 y/o daughter has Rett Syndrome (Autistic Spectrum Disorder) and she is considered somewhat vulnerable to illness increasing her seizures so decided to hold off on putting her in school. They had no problem with this and had her services come into the home (continued with infant program) and was just written into her IEP. In you daughter’s case it seems like the school program is just not a good fit for her. Is she in ABA? Her IEP needs to be written in a way that WILL teach according to her needs. Has your daughter been tested for Rett Syndrome? I always ask when I seen a girl labeled as autistic because RS is commonly misdiagnosed as autism or CP and is a girl disorder, while autism is a boy disorder. There are ways of teaching my daughter that are different from autistic kids (she is highly social and very gentle) so maybe your daughter doesn’t fit in with other autistic methods of teaching.

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Question?: Rett Syndrome Pictures

Thomas asks…

SPECIAL ED/ REG ED TEACHERS?

I am currently attending Trident Technical College with intentions to transfer to College of Charleston, a 4 year college. I am currently taking some general classes, and will be majoring in Early Childhood Development & Education in Special Education… and taking some Associates of Arts classes. I am curious:
What is the main objectives of a special education teacher, and how does the position differ from a “regular” classroom teacher?…. younger elementary age.

If you can, briefly sum up the special educations teacher position. I am a new college student (first year) and am 100% passionate about teaching, and children. I currently am an hourly “teacher”/childcare provider at a preschool daycare (ages 9 months-16 months, approximately.) I am not sure if I will enjoy the special kids as much as the regular classes, and am curious at how I would handle it.. I am concerned about the level of patience and tolerance I will need, and if I will be lacking in that area!!! Sounds shallow, but it is a valid concern all the same. Of course I do realize that I have plenty of time to decide and assist in classes… but I’d love to hear about others experiences, knowledge, and input…

Do special ed teachers usually get paid more than regular ed teachers?

Thanks in advance for your responses!

admin answers:

All right. Well, my mother currently works in a special ed classroom as an aide. She works with the developmentally delayed preschoolers. I go visit the kids sometimes, and she tells me lots about them. Most of them are sweet kids. She has a total of i think 8 in the room, but some keep coming from other classes to get help from them because regular teachers don’t seem to want to give them a chance. Most of the kids just have developmental problems. They have to test into the class, meaning they have to meet with a lady at the school (cant remember what they call her) and perform a series of tasks to show that they are developed well enough physically to enter the class but that they still need some extra help learning. The object of this special ed program is to help prepare the children for kindergarten. Most of them are a little slow. One little boy has a bad problem with speech, one of them has muscular dystrophy and is on medicine that makes his little face swell, and one little girl has a problem with her eyes where she can barely see and has to wear bifocals. Some of the kids are on medicine and are very hyper. One little boy has something wrong with his nerves and is terribly hyper and has siezures and slow speech. Another little girl has Rett’s syndrome. Dont ask me how she tested into the class, she is unteachable and cant talk, all she does is sits around, screams,and poops. Rumor has it she was put in there to make the teacher in charge of the class mad. The teacher and aides work with the students on their alphabet, and they begin to teach them how to spell, especially their names. They might make a poster with pictures of something that starts with the letter they are learning on it, do a coloring sheet, practice how to hold a pencil, or watch a little kids movie or dora the explorer or something. The adults in the room are responsible for feeding the kids lunch and breakfast, and taking them to the bathroom. They all sit at a little table together to eat, and they line up single file and take turns in the bathroom. If the child does not know how to button their pants or wipe themselves, the teachers have to help them. Also the students have music where they sing songs and do little dances to them. This class is considered pre k, but there are some kindergarteners in there too. Most of the kids are four or five, i think there is one three year old and thats the girl who is unteachable.
Being a special ed teacher differs from a regular teacher because the students need more one on one attention. And as far as patience goes, yes, its good to have it, and lots of it! The kids my mom works with dont respond well to being yelled at, but my mom talks sweet to them, so they love her and do anything for her. There is both a certified teacher and an aide in the classroom, the aide does not need to have a degree.
As far as pay goes, from what my mom has told me about the certified teacher in the classroom, she makes more money than the other special ed teachers because she has a masters degree in special education and has been teacher for many many years. I think special ed pay is like regular teachers pay, better depending on your degree and years of expertise. This is just what it is like at my mother’s school, i dont know how it is at other places. Good luck if this is what you decide to do!

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Question?: Rett Syndrome

Steven asks…

Can you help me at all? Bio paper on rett syndrome?

I need to discuss in length rett syndrome at the cellular level. Can you direct me to a good website or journals, or tell me what info I need to discuss/include.
Thanks for your answers but to the second answerer my professor isnt looking for symptoms and treatments he wants info about it at the cellular level and a teacher suggesting wikipedia? Gasp!

admin answers:

Http://www.ncbi.nlm.nih.gov/books/NBK1497/

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Question?: Rett Syndrome Treatment

Thomas asks…

Cerebral Palsy?

Does anyone know any good hospitals which treat celebral palsy. Patient is 4 years old girl, location – Uzbekistan, but we have means to travel and have treatment abroad.
Thanks

admin answers:

There are many so-called ‘cures’ and many different forms of treatment.

Some years ago I took my daughter to a centre in the Uk (she has Rett Syndrome not CP) which was excellent. We had to stop as we could not afford it, but here is a link to their website:

http://www.advancecentre.org.uk/

Good luck

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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 Research

Mark asks…

rett syndrome?

Hi all>
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 worked with a child that had RS and her parents told me she was originally diagnosed with CP. It was very difficult to tell the difference between the two.So it was drawn out. The little girl was 2 1/2 before she was properly diagnosed. One main difference between CP & RS is that with CP when you learn something you keep the knowelege and remember things, with RS you can learn it and loose it. This little girl I worked with could not walk or talk but she could feed herself with her hands and crawl a little. By the time she turned 5 she had lost everthing she had gained. She could no longer swallow her food feed herself or crawl. Her Dr had to put a G button in to do tubal feedings and then she was put in a kid cart because she couldnt get around on her own. I hope I helped but this is the only knowlege I have of RS….

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