Tag Archives: Genetic Disorder

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 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?: 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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Question?: Rett Syndrome Research

Linda 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 have only dealt with a child that was in Stage III. I was a special education worker in a middle school a few years ago. We had one case of Rett in our school. I worked with the child very closely for a year and then was reassigned to other duties. I stilled worked with her, but a much small amount for the other 3 years she was with us. I don’t know how much I can help. However, if you have some specific questions you can contact me and I would try to help.

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Question?: Rett Syndrome In Boys

Thomas asks…

Examples of Syndrome caused by Chromosome Mutation?

Examples of Syndrome caused by Chromosome Mutation?
I’m needed to do a project and I want to know a variety of syndromes to research about that are interesting.

I know down syndrome is one of the syndrome caused by chromosome mutation but I want something different.

Things I will need to know are:
-How it is affected
-How frequently it occurs
-Symptoms of the Syndrome

admin answers:

WELL THERE ARE ALOT LETS START WITH…

1. TURNER SYNDROME is a genetic disorder that affects a girl’s development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don’t work properly. Most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.

Other physical features typical of Turner syndrome are

Short, “webbed” neck with folds of skin from tops of shoulders to sides of neck
Low hairline in the back
Low-set ears
Swollen hands and feet
There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

2. KLINEFELTER’S SYNDROME: Also called: XXY male
Klinefelter’s syndrome is a condition that occurs in men who have an extra X chromosome in most of their cells. The syndrome can affect different stages of physical, language and social development. The most common symptom is infertility. Because they often don’t make as much of the male hormone testosterone as other boys, teenagers with Klinefelter’s syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in.

It is important to start treatment as early as possible. With treatment, most boys grow up to have normal sex lives, successful careers and normal social relationships. Treatments include

Educational services
Physical, speech and occupational therapy
Medical treatments including testosterone replacement

3. RETT SYNDROME: is caused by mutation in the gene encoding methyl-CpG-binding protein-2 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypical movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described.

4. SEBASTIAN SYNDROME: Sebastian syndrome is an extremely rare genetic bleeding disorder. It is part of a larger category of blood disorders known collectively as inherited giant platelet disorder. Sebastian syndrome is mild and non-life-threatening. The symptoms of Sebastian syndrome tend to be quite mild. Some people who have the syndrome may not even have symptoms at all. People who have the syndrome tend to be susceptible to nosebleeds, may bleed from the gums and may bleed for a longer-than-normal time after being cut. They also tend to bruise easily. Women with the syndrome may experience a menstrual flow that is heavier than that of most other women. None of these instances of bleeding are life-threatening. The main risk associated with Sebastian syndrome is the liklihood of hemmorhage during or following surgery. Someone with Sebastian syndrome who undergoes major surgery may require a platelet transfusion afterward. To make a diagnosis of Sebastian syndrome, doctors will perform several tests. A complete blood count will be done, as well coagulation studies and platelet aggregation tests. Microscopic examination of the platelets also helps in reaching a diagnosis; the size and shape of platelets affected by Sebastian syndrome is distinctive. A genetic test may also be done to determine the presence of the gene that causes the syndrome.

5. DOWN SYNDROME: Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical features and developmental delays associated with DS. Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies. The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.
Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that can go along with DS can be treated, and there are many resources within communities to help kids and their families who are living with the condition.

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Question?: Asperger Syndrome Quiz

James asks…

Are there black people with autism?

I am black, and I think I have high functioning autism or aspergers syndrome. The aspie quiz says that I have both neurotypical and aspie traits.

I fit a lot of the stereotypes. I am very quiet and only have two good friends at any given time.

I told my mother, and she said that autism is a genetic disorder that only white europeans get. Is she right?

admin answers:

You mother is wrong. While I’m not sure of the statistics for Black People, you can easily refute your mother by referring to a recent study from South Korea (Asians, obviously) where it was found up to 1-in-38 people were Autistic, a far higher number than in European countries. And this study involved 55,000 people, one of the most extensive of its kind.

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Question?: Rett Syndrome Pictures

Mary 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:

First signs were within the first couple of months of birth. She never cried or fussed to be held or for any attention at all. She stared and giggled at for hours at a picture, a fan, a blank spot on the wall. She was floppy…we noticed this at about 3-4 months. She has a twin that is normal, so we noticed all of these differences right away. She never hugged or held anyone tight, or cared who was holding her.

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Question?: Rett Syndrome Video

Linda asks…

Does anyone know the name of this genetic disease?

I’m trying to write a short story about parents whose child is diagnosed with a genetic disorder – it’s one that I saw in a video in 8th grade science, and now I can’t come up with the name.

All I remember is that the child is born and develops normally for (I believe) anywhere from several months to one or two years, and then suddenly begins to regress both physically and cognitively. The child usually dies very young in life, before he or she is five. This is rough information and probably not accurate, but it’s what I remember. There’s no cure, and very little treatment – parents just have to make sure the child is comfortable as it regresses.

Does anyone know the name of this disease? I’ve spent an hour on Google and so far Rett syndrome is the closest I’ve found, and I’ve almost definitely ruled out PDD.

Thanks in advance for the help!

admin answers:

ALD? Not sure..sorry!

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Improving The Possibilities Of Curing Autism

Our medical science is not yet ready to wipe autism clean from our world. The real cause of autism remains unknown. Regretfully, our medical advancement has not shown any progress in bringing forth a cure for this severe disease. Autism is still affecting children all around the world and the most unfortunate thing is that, their parents have no clue of what they must do. Reason for this dilemma is the lack of awareness. The number of autism-affected children this year has increased a bit higher than the previous years.

Before starting a therapy process to cure autism, a child must go through a precise process of diagnosis, to determine the existence of the disease. If they are found to be affected by the disease, then they must be enrolled in the autism therapy. Doctors found out that, genetic disorder is one of the reasons of getting a neurological disease. Therefore, experts are trying to cure autism and other neurological diseases by starting treatment at the cellular level. However, not just medicines, autism patients suffer from psychological disorder; so, they need a series of therapy to get their social understanding skill improved. Experts and doctors suggest following a set of rules systematically to improve the possibilities of curing autism.

A medical checkup is important
According to world-renowned researchers and doctors of autism, a complete medical treatment is needed before starting any therapy to cure a neurological disease. There is no general treatment for autism patients, as each patient display different forms of symptoms in this disease. Fortunately, there is a pattern of treatment followed by doctors to cure autism.

Therapy comes next
Modern therapy for autism consists of medicine and exercises to improve the learning abilities of patients. A common problem seen in autism patients is their difficulty in understanding the spoken language. They also have problems to respond accordingly.

Therefore, they must be enrolled in to speech therapy at first. The Sensory Integration Therapy that improves the patient’s brain growth would follow this up with the increased flow of sensory information process.

Selecting school
An autism affected patient needs to be exposed in social environment. School helps them mingle with other students and understand emotions as well as develops their reasoning ability. However, they also need attention and care, more than students who are without the disease. So, find a school that is capable of providing all that the patient needs.

These are the rules that can develop a patient of autism and improve their learning skills naturally. So, keep yourself updated about news on how to cure autism and spread the knowledge among others too.

Annie Barrete is a well-known autism researcher and publisher. Her long search for a helpful Aid for Autism led her to be an expert in treating autism patients. She believes sharing knowledge can help people who are in distress.

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