Tag Archives: Genes

Question?: Autism Symptoms In 7 Year Old

Chris asks…

what is autisme exactly about?

i have a sister, she cannot talk even she’s 7 yearold. some doctor said that she is hyperactive, but, other said that she is autisme. what is autisme exactly about? i’m very confused!!!

admin answers:

Autism -brain disorder that often interferes with a person’s ability to communicate with and relate to others.

Signs of autism almost always develop before a child is 3 years old, the condition is sometimes not diagnosed until later. Parents first become concerned when they notice that their toddler does not begin to talk or does not respond and interact like other children of the same age. Toddlers with autism do not usually develop speech normally and may seem to be deaf although hearing tests are normal.

Autism also affects how a child perceives and processes sensory information.

Severity of autism varies. Some ppl need assistance in almost all aspects of their daily lives, while others are able to function at a very high level and can even attend school in a regular classroom. This is a lifelong condition that uaually results in some degree of social isolation, treatment can make a major difference in the lives of people with autism. Early diagnosis and comprehensive treatment has resulted in increasing numbers of people with autism being able to live independently as adults..

What causes autism?
Autism tends to run in families, suggesting a genetic link. Because people with autism can be vastly different, scientists suspect a number of genes are responsible. Ongoing research is targeted at pinpointing these genes. Some experts also believe that environmental factors may play a part in causing autism, although scientists have studied several factors, including vaccines, and have yet to identify such a cause.

Brain scans of people with autism have shown abnormalities in several areas of the brain, including those responsible for emotion and social relations. Other studies suggest that people with autism have high levels of the neurotransmitter serotonin, a chemical that sends messages in the brain. However, these findings are preliminary, and ongoing studies seek to explain the brain and autism.1

What are the symptoms?
All people with autism have difficulty with social interactions and relationships. Parents often describe their child with autism as preferring to play alone and making little eye contact with other people. Other symptoms of autism include:

Difficulties with verbal and nonverbal communication. Language development in children with autism is almost always delayed.
Limited, repetitive, and overused (stereotyped) patterns of behavior, interests, and play. Many typical behaviors-such as repetitive body rocking, unusual attachments to objects, and holding fast to routines and rituals-are driven by the need for sameness and resistance to change.
There is no “typical” person with autism. Although autism is defined by the above characteristics, people with autism can have many different combinations of behaviors in mild to severe forms.

Do any other conditions occur with autism?
Although it is difficult to determine, studies show that below-normal intelligence occurs in about 70% of children with autism.2 Teenagers with autism often become depressed and have increased anxiety, especially if they have average or above-average intelligence. In addition, about a third of children with autism develop a seizure disorder (such as epilepsy) by their teen years.3

How is autism diagnosed?
Your health professional will use diagnostic guidelines, established by the American Academy of Child and Adolescent Psychiatry (AACAP), to determine whether your child has core symptoms.4 A child may also have hearing and other tests to make sure developmental delays aren’t the result of another condition with similar symptoms. Early diagnosis and treatment of autism is important to make the most of the child’s potential.

How is it treated?
Behavioral training, speech and occupational therapy, and parent education and support can often improve a child’s problem behaviors, communication skills, and socialization. Medications are sometimes helpful as well. A child with autism responds best to a highly structured, specialized educational program tailored to his or her individual needs. However, specific treatment varies depending on the range of individual symptoms, which can combine in many different ways and change over time.

Parents, school staff, and health professionals are usually all involved in planning a child’s treatment.

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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?: What Is Autism For Kids

Linda asks…

What do you think causes autism in kids?

If it’s not vaccines, is it the water kids drink, the food they eat, poor diet, what? What‘s your spin on it? Also, does anyone know when symptoms generally become apparent? This issue is freaking me out.

admin answers:

Thomas in my eyes was born with autism if it was the vaccine every child would have autism even Thomas’s twin sister Kylie would, i think its in the genes and if there are many cases of mental illness in your families then i believe its a factor, if i went back through my families history some members has certain traits of autism and when it come to children like my son Thomas they get it all at once

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Question?: Schizophrenia Test

Ken asks…

I did a schizophrenia test and my score came back as 30 and it said contact a doctor immediately if +15.?

But im only 14. I think there might be something wrong with the test. Should I trust it.

admin answers:

Generally you shouldn’t trust online tests of anything.

Schizophrenia doesn’t usually set in that young unless you have a small deletion or duplication in DNA in one of a few select genes that code for regulation of things like neuronal migration. Those are extremely rare, and you’d usually have a family history of crazy/depressed people. Really, the main hallmark of the disease is hearing voices. People with schizophrenia usually don’t have insight into their problem and never seek help; ironically, that could mean that just having the wherewithal to take an online test for schizophrenia makes it more likely that you don’t have it.

You may have something else though, if your cognition has changed, and it wouldn’t hurt to see your doctor.

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Question?: Schizophrenia Causes

Thomas asks…

Is it bialogical jeans truma and pot smoking that causes schizophrenia?

admin answers:

Yes, it appears to be a combination of factors. You can be genetically predisposed to schizophrenia if there are others in your family with the disease (but that doesn’t mean that you’ll get the disease). Stress and trauma during pregnancy, childhood or adolescence can increase your risk of schizophrenia. Having an older father can increase your risk of schizophrenia. People who smoke pot and carry certain genes for schizophrenia have a 1000% increased risk of developing the disease. But environment also plays a factor. A stable family environment with minimal stress reduces your risk of getting schizophrenia. Here’s more information:


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Question?: Rett Syndrome Genetics

Susan asks…

Is autism hereditary?

Is it possible for a parent to have a different form of autism than their children? For example a child has Asperger’s and their parents or grandparents are autistic but don’t have it?

admin answers:

Autism is a developmental disability that typically involves delays and impairment in social skills, language, and behavior. Genetics appear to play an important role in causing some cases of autism. Several studies have shown that when one identical twin has autism, the other co-twin often has autism. In contrast, when one fraternal twin has autism, the co-twin is rarely autistic. Studies trying to identify specific genes associated with autism have been inconclusive. Currently, it appears that 20 or more genes may be associated with autism. This is in contrast to other disorders, such as Fragile X or Rett’s syndrome, in which single genes have been identified.
In fact, autism is sometimes described as an autoimmune system disorder

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Question?: Pdd Nos Symptoms

George asks…

Poll: Do you think vaccines cause or contribute to autism?

I’m curious to see what people really think.

admin answers:

No i dont believe they do whatsoever! I think parents are just being over cautious and flipping out for no reason. Vaccines have been around for ages, and now they are trying to say that it causes autisim? I dont think so. Dont you think there would have been more causes of that if it was actually linked to the vaccines. Its the same vaccine schedule, its not like the vaccines have changed much in the last 50 years.

Autism and autism spectrum disorders are complex neurodevelopmental disorders.Heritability contributes about 90% of the risk of a child developing autism, but the genetics of autism are complex and typically it is unclear which genes are responsible.Many other causes have been proposed, such as exposure of children to vaccines; these proposals are controversial and the vaccine hypotheses have no convincing scientific evidence.

Autism is a condition involving abnormalities of brain development and behavior which manifests itself before a child is three years old and has a steady course with no remission. It is characterized by impairments in social interaction and communication, as well as restricted and repetitive behavior. It is part of a larger family called the autism spectrum disorders (ASD) or pervasive developmental disorders (PDD), which include closely related syndromes such as Asperger syndrome and PDD-NOS. This article uses autism to denote the classic autistic disorder and ASD to denote the wider family.

Autism’s theory of causation is still incomplete. It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism’s characteristic triad of symptoms. However,here is increasing suspicion among researchers that autism does not have a single cause, but is instead a complex disorder with a set of core aspects that have distinct causes. Although these distinct causes have been hypothesized to often co-occur, it has also been suggested that the correlation between the causes has been exaggerated.The number of people known to have autism has increased dramatically since the 1980s, at least partly due to changes in diagnostic practice; it is unknown whether prevalence has increased as well. An increase in prevalence would suggest directing more attention and funding toward changing environmental factors instead of continuing to focus on genetics.

The consensus among mainstream autism researchers is that genetic factors predominate, but some are concerned, as one anonymous researcher put it, that “geneticists are running the show, and ignoring the environmental aspects.”Environmental factors that have been claimed to contribute to autism or exacerbate its symptoms, or may be important to consider in future research, include certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, and vaccines. Among these factors, vaccines have attracted much attention, as parents may first become aware of autistic symptoms in their child around the time of a routine vaccination, and parental concern about vaccines has led to a decreasing uptake of childhood immunizations and an increasing likelihood of measles outbreaks. However, as described in Mercury and MMR vaccine below, there is overwhelming scientific evidence showing no causal association between the measles-mumps-rubella vaccine and autism, and there is no scientific evidence that the vaccine preservative thiomersal helps cause autism.

In 2007 the National Institutes of Health announced an Autism Centers of Excellence (ACE) research program to find the causes of autism and identify new treatments for the disorder. Initial recipients are focusing on genetic factors, brain imaging, brain chemicals and functions including mirror neurons, effect on early parent-child behavior on autism, and learning in autistic children.

I am a mother of a 12 month old boy… Who is up to date on all his vaccines so far. And he will continue to get all his vaccinations. As so will any other children i should have. Im sorry but i wouldnt take the risk of my child actually contracting one of those disease just because some parents believe that it may be linked to autisim. Sorry, i would rather have my child vaccinated.

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Question?: Rett Syndrome Genetics

John asks…

Question about the genetics behind Treacher-Collins Syndrome?

From what I understand, in order for a person to have Treacher-Collins Syndrome they have to have at least one dominant gene for Treacher-Collins Syndrome. If this is true, then if someone has the gene for Treacher-Collins Syndrome that can be passed down to their child, then they themselves have to have the syndrome. If this is true, then how can two people, who do not have Treacher-Collins Syndrome or the gene that causes it, have a child who does have the syndrome? (The example that I’m referencing is Juliana Wetmore.)

admin answers:

There was a new mutation. It could be that the mutation happened in the sperm or egg, or that the mutation occurred in the zygote in the first few days after conception.

All of us have mutations in at least a few genes, genes that are anywhere from slightly different to our parents’, to missing or doubled.
Chromosomal abnormalities (Down Syndrome, Turner Syndrome, Edward Syndrome, Klinefelter’s), achondroplastic dwarfism, Rett Syndrome, are all examples of conditions where there is most often a new mutation causing it.

Other disorders have “premutations” where a gene becomes unstable and then starts mutating in further generations- the genes for Huntington’s Chorea (which gets worse and worse in subsequent generations), and Fragile X are like that.

Most autosomal dominant disorders are fairly uncommon because of the rate of new mutations.

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Question?: Schizophrenia In Children

Michael asks…

If my parents both had drug induced schizophrenia, will my children get it?

Both of my parents were heroin addicts, and had drug induced schizophrenia. I don’t have schizophrenia myself, but If I ever took drugs I would get it straight away. I was just wondering if any children I might have in the future would have schizophrenia. Thanks x

admin answers:

There’s a very high chance of getting it, so they might, or might not, just depends what genes they get 🙂

My grandpa and uncle have schizophrenia, and I don’t have it, and neither does my mom 🙂

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Question?: Schizophrenia Test

David asks…

Is there a blood test that a patient can get to determine schizophrenia?

Hey. Ive read that in research now they’ve come up with a blood test to distinguish schizophrenia from bipolar, and that they’re working on one to diagnose / check for schiophrenia. Can’t find out if they’re actually in practice now for patients. Anyone know? Thanks Xx

admin answers:

Blood or urine samples from the person can be tested at hospitals or physicians’ offices for the presence of these drugs.

The articles I have read suggest heredity as the cause of schizophrenia and therefore testing of the blood can pin point certain genes or target certain chemicals presence in the blood to deterime if one may develop the disease.

Current research is evaluating possible physical diagnostic tests (such as a blood test for schizophrenia, special IQ tests for identifying schizophrenia, eye-tracking, brain imaging, ‘smell tests’, etc), but these are still in trial stages at only a few universities and companies and are not yet widely used. I t will likely be a few years before these on the market, and adopted by hospitals, etc

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