Tag Archives: Irregularities

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 Genetics

Nancy asks…

what is autism?

like how do you get it, what happens when you have it?
what is it?

admin answers:

Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that one in 67 children will have autism. Males are four times more likely to have autism than females.

What causes autism?
Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role. Researchers have identified a number of genes associated with the disorder. Studies of people with autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have abnormal levels of serotonin or other neurotransmitters in the brain. These abnormalities suggest that autism could result from the disruption of normal brain development early in fetal development caused by defects in genes that control brain growth and that regulate how neurons communicate with each other. While these findings are intriguing, they are preliminary and require further study. The theory that parental practices are responsible for autism has now been disproved.

How is autism diagnosed?
Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when it is masked by more debilitating handicaps. Doctors rely on a core group of behaviors to alert them to the possibility of a diagnosis of autism. These behaviors are:
impaired ability to make friends with peers
impaired ability to initiate or sustain a conversation with others
absence or impairment of imaginative and social play
stereotyped, repetitive, or unusual use of language
restricted patterns of interest that are abnormal in intensity or focus
preoccupation with certain objects or subjects
inflexible adherence to specific routines or rituals.

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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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Evidence Of Link Discovered Between Immune Irregularities And Autism

Main Category: Autism
Also Included In: Immune System / Vaccines
Article Date: 19 Jul 2012 – 1:00 PDT Current ratings for:
Evidence Of Link Discovered Between Immune Irregularities And Autism
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Scientists at the California Institute of Technology (Caltech) pioneered the study of the link between irregularities in the immune system and neurodevelopmental disorders such as autism a decade ago. Since then, studies of postmortem brains and of individuals with autism, as well as epidemiological studies, have supported the correlation between alterations in the immune system and autism spectrum disorder.

What has remained unanswered, however, is whether the immune changes play a causative role in the development of the disease or are merely a side effect. Now a new Caltech study suggests that specific changes in an overactive immune system can indeed contribute to autism-like behaviors in mice, and that in some cases, this activation can be related to what a developing fetus experiences in the womb.

The results appear in a paper this week in the Proceedings of the National Academy of Sciences (PNAS).

“We have long suspected that the immune system plays a role in the development of autism spectrum disorder,” says Paul Patterson, the Anne P. and Benjamin F. Biaggini Professor of Biological Sciences at Caltech, who led the work. “In our studies of a mouse model based on an environmental risk factor for autism, we find that the immune system of the mother is a key factor in the eventual abnormal behaviors in the offspring.”

The first step in the work was establishing a mouse model that tied the autism-related behaviors together with immune changes. Several large epidemiological studies – including one that involved tracking the medical history of every person born in Denmark between 1980 and 2005 – have found a correlation between viral infection during the first trimester of a mother’s pregnancy and a higher risk for autism spectrum disorder in her child. To model this in mice, the researchers injected pregnant mothers with a viral mimic that triggered the same type of immune response a viral infection would.

“In mice, this single insult to the mother translates into autism-related behavioral abnormalities and neuropathologies in the offspring,” says Elaine Hsiao, a graduate student in Patterson’s lab and lead author of the PNAS paper.

The team found that the offspring exhibit the core behavioral symptoms associated with autism spectrum disorder – repetitive or stereotyped behaviors, decreased social interactions, and impaired communication. In mice, this translates to such behaviors as compulsively burying marbles placed in their cage, excessively self grooming, choosing to spend time alone or with a toy rather than interacting with a new mouse, or vocalizing ultrasonically less often or in an altered way compared to typical mice.

Next, the researchers characterized the immune system of the offspring of mothers that had been infected and found that the offspring display a number of immune changes. Some of those changes parallel those seen in people with autism, including decreased levels of regulatory T cells, which play a key role in suppressing the immune response. Taken together, the observed immune alterations add up to an immune system in overdrive – one that promotes inflammation.

“Remarkably, we saw these immune abnormalities in both young and adult offspring of immune-activated mothers,” Hsiao says. “This tells us that a prenatal challenge can result in long-term consequences for health and development.”

With the mouse model established, the group was then able to test whether the offspring’s immune problems contribute to their autism-related behaviors. In a revealing test of this hypothesis, the researchers were able to correct many of the autism-like behaviors in the offspring of immune-activated mothers by giving the offspring a bone-marrow transplant from typical mice. The normal stem cells in the transplanted bone marrow not only replenished the immune system of the host animals but altered their autism-like behavioral impairments.

The researchers emphasize that because the work was conducted in mice, the results cannot be readily extrapolated to humans, and they certainly do not suggest that bone-marrow transplants should be considered as a treatment for autism. They also have yet to establish whether it was the infusion of stem cells or the bone-marrow transplant procedure itself – complete with irradiation – that corrected the behaviors.

However, Patterson says, the results do suggest that immune irregularities in children could be an important target for innovative immune manipulations in addressing the behaviors associated with autism spectrum disorder. By correcting these immune problems, he says, it might be possible to ameliorate some of the classic developmental delays seen in autism.

In future studies, the researchers plan to examine the effects of highly targeted anti-inflammatory treatments on mice that display autism-related behaviors and immune changes. They are also interested in considering the gastrointestinal (GI) bacteria, or microbiota, of such mice. Coauthor Sarkis Mazmanian, a professor of biology at Caltech, has shown that gut bacteria are intimately tied to the function of the immune system. He and Patterson are investigating whether changes to the microbiota of these mice might also influence their autism-related behaviors.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. Along with Patterson, Hsiao, and Mazmanian, additional Caltech coauthors on the PNAS paper, “Modeling an autism risk factor in mice leads to permanent immune dysregulation,” are Mazmanian lab manager Sara McBride and former graduate student Janet Chow. The work was supported by an Autism Speaks Weatherstone Fellowship, National Institutes of Health Graduate Training Grants, a Weston Havens Foundation grant, a Gregory O. and Jennifer W. Johnson Caltech Innovation Fellowship, a Caltech Innovation grant, and a Congressionally Directed Medical Research Program Idea Development Award.
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