Tag Archives: Intellectual Disability

CDC Data and Statistics that you may not know.

Hi, We have a new volunteer. Our first. Elizabeth Campion,  from the Shelby Township library here in Michigan. She is an expert at mining data, She did this as a sample of her work. Even I had not heard all these facts. I thank her for this work.

 

CENTERS FOR DISEASE CONTROL AND PREVENTION                                             DATA AND STATISTICS

 

AUTISM

About one in 88 children has been identified with an autism spectrum disorder (ASD) according to estimates from CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network.

ASD’s are reported to occur in all racial, ethnic, and socioeconomic groups.

ASD’s are almost five times more common among boys (1 in54) than among girls (1 in 252).

Studies in Asia, Europe, and North America have identified individuals with an ASD with an average prevalence of about 1%.  A recent study in South Korea reported a prevalence of 2.6%.

About one in 6 children in the U.S. had a developmental disability in 2006-2008, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism.

 

RISK FACTORS AND CHARACTERISTICS

Studies have shown that among identical twins, if one child has an ASD, then the other will be affected about 36-95% of the time.  In non-identical twins, if one child has an ASD, then the other is affected about 0-31% of the time.

Parents who have a child with an ASD have a 2-18% chance of having a second child who is also affected.

ASDs tend to occur more often in people who have certain genetic or chromosomal conditions.  About 10% of children with autism are also identified as having Down syndrome, fragile X syndrome, tubers sclerosis, and other genetic and chromosomal disorders.

The majority (62%) of children the ADDM Network identified as having ASDs did not have intellectual disability.

Children born to older parents are at a higher risk for ASDs.

A small percentage of children who are born prematurely or with low birth weight are at greater risk for having ASDs.

ASD commonly co-occurs with other developmental, psychiatric, neurologic, chromosomal and genetic diagnoses.  The co-occurrence of one or more non-ASD developmental diagnoses is 83%.  The co-occurrence of one or more psychiatric diagnoses is 10%.

Research has shown that a diagnosis of autism at age 2 can be reliable, valid and stable.

More children are being diagnosed at earlier ages – a growing number (18%) of them by age 3.  Still, most children are not diagnosed until after they reach age 4.  Diagnosis is a bit earlier for children with autistic disorder (4years) than for children with the more broadly-defined autism spectrum diagnoses (4 years, 5 months) and diagnosis is much later for children with Asperger Disorder (6 years, 3 months).

Studies have shown that parents of children with ASDs notice a developmental problem before their child’s first birthday.  Concerns about vision and hearing were more often reported in the first year, and differences in social, communication, and fine motor skills were evident from 6 months of age.

 

ECONOMIC COSTS

Individuals with an ASD had average medical expenditures that exceeded those without an ASD by $4,110-$6,200 per year.  On average, medical expenditures for individuals with an ASD were 4.1 – 6.2 times greater than for those without an ASD.  Differences in median expenditures ranged from $2,240 to $3,360 per year, with median expenditures 8.4 – 9.5 times greater.

In 2005, the average annual medical costs for Medicaid-enrolled children with an ASD were $10,709 per child, which was about six times higher than costs for children without an ASD ($1,812).

In addition to medical costs, intensive behavioral interventions for children with ASDs cost $40,000 to $60,000 per child per year.

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?: Autism Signs And Symptoms

Sandy asks…

Why are so many children being diagnosed with autism?

It may just be that I notice this because of my hightened awareness, especially since my 2 children are both on the spectrum. It seems like everyday I find out that another person I know has a child with autism, or someone contacts me for advice with their autistic child. Is this really as bad as it seems to me? Why is this an epidemic? What are your theories?

admin answers:

The diagnostic criteria were revised in 1994, allowing more children to be diagnosed. Most importantly, the Asperger’s syndrome diagnosis was created. People who were previously considered simply eccentric are now on the spectrum. Lower-functioning autistics are also more likely to be diagnosed. When Leo Kanner first described autism in the 1940s, he excluded children with other conditions (i.e. Mental retardation and epilepsy) in order to prove that autism was a distinct condition. Now we know that many low-functioning autistics have an intellectual disability, and that epilepsy is relatively common in people with ASDs.

There is also increased awareness, largely due to the Internet. Parents and schools are more likely to notice a child’s symptoms and recognize them as signs of autism. Professionals know more about autism than they did a few decades ago, and can make more accurate diagnoses. Many people are realizing that autism isn’t just a boys’ disorder, so more girls on the spectrum are receiving the correct diagnosis. Because of increased awareness, there is less stigma as well. More people are willing to take their child to be evaluated, and are more open about their child’s autism.

It’s not an epidemic and I don’t believe there are more people out there with autism. It’s just that more people are being *diagnosed* with autism due to criteria changes and awareness. In your situation, it’s very likely that you’re more aware of autistic kids around you. Plus, people may be more likely to discuss an autistic child with you, since you have two of your own.

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Early Pregnancy Folic Acid Supplements Reduce Autism Risk In Newborns

Editor’s Choice
Academic Journal
Main Category: Pregnancy / Obstetrics
Also Included In: Autism;  Pediatrics / Children’s Health
Article Date: 18 Jun 2012 – 9:00 PDT Current ratings for:
‘Early Pregnancy Folic Acid Supplements Reduce Autism Risk In Newborns’
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1 in 88 children born today will be diagnosed with an autism spectrum disorder, according to the U.S. Centers for Disease Control and Prevention. Now, researchers have found that women can reduce the risk of having a child with the neurodevelopmental disorder if they consume the recommended daily doses of folic acid (600 micrograms, or 0.6milligrams), the synthetic form of folate or vitamin B-9, during the first month of pregnancy.

Autism is characterized by communication deficits, impairments in social interaction, intellectual disability, and repetitive behaviors.

The study, conducted by researchers at UC Davis MIND institute and published in the American Journal of Clinical Nutrition, adds to the researchers’ earlier work, which found women were less likely to have a child with autism if they consumed prenatal vitamins around the time of conception.

In this study, the team set out to determine if the protective effect in those supplements was folic acid. According to the findings, women who are trying to conceive a child or those who have already conceived should consider taking folic acid supplements.

The researchers discovered that women were less likely to have a child with autism if they consumed the recommended amount of folic acid during the first month of pregnancy, specifically, when the mother and/or her child had a specific genetic variant (MTHFR 677 C>T). This variant is associated with less efficient folate metabolism.

Lead study author Rebecca J. Schmidt, assistant professor of public health sciences in the UC Davis School of Medicine and a research with the UC Davis MIND institute, explained:

“This research is congruent with the findings of earlier studies that suggest that improved neurodevelopmental outcomes are associated with folic acid intake in early pregnancy. It further supports recommendations that women with any chance of becoming pregnant should consider consuming folic acid at levels of 600 micrograms or greater per day.”

Irva Hertz-Picciotto, chief of the division of environmental and occupational health in the Department of Public Health Sciences and MIND Institute researcher said:

“What’s reassuring here is knowing that, by taking specific action in terms of their intake of folic acid from food or supplements, women can reduce the risk of autism spectrum disorder in their future children.”

According to the researchers, folic acid helps protect against problems with embryonic brain development by facilitating DNA methylation reactions that can change the way the genetic code is read. They state that adequate intake of methyl donors, such as folic acid, could be especially important during the time a women conceives.

The team examined data on 835 Northern California women who had children aged 2 to 5 years old with autism, developmental delay or typical development. All the mothers took part in the Childhood Autism Risk from Genetics and the Environment (CHARGE) study between 2003 and 2009.

The investigators evaluated the average amount of folic acid each woman consumed daily and the frequency of consumption. They gathered information from study participants 3 months before they became pregnant, and then again when they were pregnant.

They found that mothers of children with autism reported less folic acid intake during their first month of pregnancy than mothers of typically developing children, who reported more likely to meet intake recommendations.

Furthermore, study participants were less likely to have a child with autism if the amount of folic acid they consumed increased. During the three months before pregnancy, mothers of children with developmental delay tended to have lower estimated folic acid intake.

GrainProducts
In many countries today, including the USA, several grain products are fortified with folic acid

According to the researchers, at least 69% of mothers of typically developing children met the recommended daily guidelines for folic acid, with an average of 779 micrograms per day. 54% of mothers of children with autism met the daily guidelines, with an average of 655+ micrograms per day.

Earlier studies have shown that consuming supplemental folic acid before and during early pregnancy can prevent up to 70% of neural tube defects, or improper formation of the embryonic brain and spinal cord, as well as securing improvements in other social, attention and behavioral outcomes in the developing child.. These effects were stronger when the mother and/or child carried the MTHFR 677 C>T gene variant.

Written by Grace Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our pregnancy / obstetrics section for the latest news on this subject. American Journal of Clinical Nutrition

UC Davis Health System

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posted by Harold, Ph.D. on 19 Jun 2012 at 3:18 pm

I was surprised that Folic acid from foods or supplements were considered equal. Since 1982 it has been known that supplement sources were needed and this resulted in the FDA’s recommendation for supplementation of Folic Acid in 1991.

Cherry picking nutrients for study will always be interesting but the more successful approach would be to study those individuals comparing the composition of the diet to what is known to be required for a nutritionally adequate diet. The greatest risk for developing autism is a diet that lacks adequate nutrients for proper brain development and in those with autism, this includes up to fifty or sixty different nutrients that are low or absent in the diet. The most critical of these includes cholesterol, choline, many of the fatty acids, amino acids, vitamins and minerals.

History has shown that the non-communicable diseases result from diets that fail to meet the needs for proper development. Since nutrition is not considered a medical problem, a non-medical solution, nutrition is more likely to rid this world of autism.

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Seizure Susceptibility In Angelman Syndrome May Be Due To Brain Cell Activity Imbalance

Main Category: Epilepsy
Also Included In: Autism;  Genetics
Article Date: 08 Jun 2012 – 0:00 PDT Current ratings for:
‘Seizure Susceptibility In Angelman Syndrome May Be Due To Brain Cell Activity Imbalance’
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New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder.

Published online in the journal Neuron, researchers led by Benjamin D. Philpot, PhD, professor of cell and molecular physiology at UNC, describe how seizures in individuals with AS could be linked to an imbalance in the activity of specific types of brain cells.

“Our study indicates that a common abnormality that may apply to many neurodevelopmental disorders is an imbalance between neuronal excitation and inhibition,” Philpot said. This imbalance has been observed in several genetic disorders including Fragile X and Rett syndromes, both of these, like AS, can be associated with autism.

Angelman syndrome occurs in one in 15,000 live births. The syndrome often is misdiagnosed as cerebral palsy or autism. Its characteristics, along with seizures, include cognitive delay, severe intellectual disability, lack of speech (minimal or no use of words), sleep disturbance, hand flapping and motor and balance disorders.

The most common genetic defect of the syndrome is the lack of expression of the maternally inherited allele of gene UBE3A on chromosome 15.

This loss of gene function in AS animal models has been linked to decreased release of an excitatory neurotransmitter which increases the activity of other neurons. But that seems at odds with the high seizure activity observed in AS patients. The new study may clarify this issue.

In his lab in UNC’s Neuroscience Research Center, Philpot and graduate student Michael L. Wallace, the study’s first author, explored the neurocircuitry of an Angelman syndrome mouse model. These mice show behavioral features similar to humans with AS, including seizures.

The researchers used electrophysiological methods to record excitatory and inhibitory activity from individual neurons. These involved highly precise recording electrodes, microscopic tips attached to individual neurons. “In this way you can record from precise neuron types and tell which neuron you’re recording from and what its activity is,” explained Philpot.

“You can stimulate it to drive other neurons and also record the activity on other neurons onto it.”

The researchers found that neurotransmitters sent from inhibitory neurons and carrying chemical messages meant to stop excitatory neurons from increasing their activity were defective.

In addition, they found that AS model mice have a defect in their inhibitory neurons which decreases their ability to recover from high levels of activity. “One of the reasons why inhibition is so important is that it’s needed to ensure that brain activity is regulated,” Philpot said. “Inhibition plays an important role in timing of information transfer between neurons, and if the timing is messed up, as you might observe if you had a decrease in inhibition, then a lot of information is lost in that transfer.”

“We found a disproportionately large decrease in inhibition to excitation,” Wallace said. “We think that the circuit we investigated is in a hyperexcitable state and may be underlying some of the epileptic problems observed in the AS animal model. This improperly regulated brain activity might also underlie cognitive impairments in AS.”

Philpot says one of their goals is to understand exactly how these changes in the connections between neurons underlie seizures in AS. “A very long term goal is to try to get better treatments for these individuals because their epilepsy is very hard to treat.”

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our epilepsy section for the latest news on this subject. Along with Wallace and Philpot, other UNC co-authors are Alain C. Burette and Richard J. Weinberg from the department of cell and developmental biology.
Support for the research came from a National Institute of Neurological Disorders and Stroke, the Angelman Syndrome Foundation, the Simons Foundation, the National Eye Institute, and the National Institute of Mental Health.
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‘Seizure Susceptibility In Angelman Syndrome May Be Due To Brain Cell Activity Imbalance’

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Insight Into Brain Regeneration And Developmental Disorders From Mice With Big Brains

Main Category: Autism
Also Included In: Genetics;  Neurology / Neuroscience
Article Date: 17 May 2012 – 0:00 PDT Current ratings for:
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Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome.

Dr. Picketts and his team created the mice to learn more about Snf2l, which is known to play a role in packaging DNA and determining which genes are active versus inactive. They found that the mutant mice were completely normal, except that they had larger brains, more cells in all areas of the brain, and more actively dividing brain stem cells.

“This research represents a fundamental advance in our understanding of how the brain develops, and it also has important practical implications,” said Dr. Picketts, Senior Scientist at OHRI and Associate Professor in the Faculty of Medicine at uOttawa. “If we could identify drugs that regulate Snfl2 activity, these could potentially be used to stimulate neural stem cells to help regenerate and repair damage in people who have suffered brain injuries or strokes. We’re still at the early stages of this research, but the possibilities are very exciting.”

The Snf2l mutant mice are also providing insight into developmental disorders that are associated with changes in brain size. For example, by studying these mice, Dr. Picketts and his team found that Snf2l controls the expression of a gene called Foxg1, which causes the intellectual disability disorder Rett syndrome in some people. While the mutant mice have high levels of Foxg1 and large brains, people with Rett syndrome lack Foxg1 and have small brains. This research shows that Snf2l and Foxg1 work against each other to balance brain size. Autism is also commonly associated with changes in brain size (one third of autistic individuals have a larger brain), however no studies have yet provided a direct link between Snf2l and autism.

“The connections between Snf2l and brain developmental disorders are intriguing,” said Dr. Picketts. “We’re looking forward to further unravelling these connections and hopefully applying this research to help people who suffer from these conditions.”

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. This study was funded by the Canadian Institutes of Health Research.
The full publication is titled “Snf2l regulates foxg1-dependent progenitor cell expansion in the developing brain”, and the authors include: Darren J. Yip, Chelsea P. Corcoran, Matías Alvarez-Saavedra, Adriana DeMaria, Stephen Rennick, Alan J. Mears, Michael A. Rudnicki, Claude Messier and David J. Picketts.
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‘Insight Into Brain Regeneration And Developmental Disorders From Mice With Big Brains’

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Strong Evidence Linking Genes Common In Autism And Fragile X Syndrome

Main Category: Autism
Also Included In: Genetics
Article Date: 27 Apr 2012 – 0:00 PDT

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A new study, published by Cell Press in the journal Neuron, discovers several genes associated with autism and finds evidence for a shared genetic mechanism underlying autism and fragile X syndrome, the most common genetic cause of intellectual disability.

It is well established that genetic variation caused by mutation can lead to autism spectrum disorders, and research has repeatedly implicated “de novo” (new) mutations, those that show up for the first time in affected children, as being particularly relevant. Identification of the specific genes associated with autism may lead to much needed advances in the diagnosis and treatment of autism spectrum disorders. The current study, led by Dr. Michael Wigler from Cold Spring Harbor Laboratory, used gene sequencing methods to look at nearly 350 families with healthy children and children on the autistic spectrum, part of the larger Simons Simplex Collection. Specifically, the researchers looked for mutations that were present in the children but not in their parents.

The team found that autism is linked with the types of new mutations that are likely to disrupt the function of a gene. By disrupting one of the pair of healthy genes that we normally inherit, such mutations alter “gene dosage.” There was a 2-fold higher incidence of such mutations in the affected child than in the healthy child, but little to no difference in the overall incidence of much more prevalent types of mutations. The results also showed that children with older parents have more new mutations. This is consistent with other recent reports and perhaps explains why older parents are more likely to have children on the autism spectrum. “More generally, this work and the work preceding it point to the importance of new mutations and gene dosage in so-called complex genetic disorders,” says Dr. Wigler.

Importantly, the study also identified many new autism candidate genes, and these genes showed a strong overlap with genes linked to the pathway involved in fragile X syndrome, one of the best studied cognitive-behavioral disorders in humans. “We observe strong statistical evidence for the link between autism and fragile X syndrome, first suggested by study coauthors Dr. Jennifer Darnell and Dr. Robert Darnell, in a paper they published in Cell last year,” explains Dr. Wigler. “Our finding has important implications for therapy and shows that autism is in large part a molecular disorder of neuroplasticity, the mechanisms by which our nervous system adapts to change.”

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. Iossifov et al.: “De novo gene disruptions in children on the autistic spectrum.”
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posted by BKN on 27 Apr 2012 at 9:21 am

Many thanks to the researchers that did this work! I recently read an article that said that a couple of Fragile X symptoms in Fragile X mice could be eased by a drug. It involved glutamate receptors. My son is autistic but doesn’t have Fragile X, even though he kind of looks like he does. I wonder if there might be a drug for him someday.

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‘Strong Evidence Linking Genes Common In Autism And Fragile X Syndrome’

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Reversal Of Fragile X Syndrome In Mouse Model

Main Category: Autism
Also Included In: Clinical Trials / Drug Trials
Article Date: 12 Apr 2012 – 2:00 PDT

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A recent study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism. The paper, published by Cell Press in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established.

Fragile X patients suffer from a complex set of neuropsychiatric symptoms of varying severity which include anxiety, hyperactivity, learning and memory deficits, low IQ, social and communication deficits, and seizures. Previous research has suggested that inhibition of mGlu5, a subtype of receptor for the excitatory neurotransmitter glutamate, may be useful for ameliorating many of the major symptoms of the disease.

The new study, a collaboration between a group at F. Hoffmann-La Roche Ltd. in Switzerland, led by Dr. Lothar Lindemann, and a group at the Picower Institute for Learning at the Massachusetts Institute of Technology, led by Dr. Mark Bear, used a newly developed mGlu5 inhibitor called CTEP to examine whether pharmacologic inhibition of mGlu5 could reverse FXS symptoms.

The researchers used a mouse model of FXS and administered CTEP after the brain had matured. “We found that even when treatment with CTEP was started in adult mice, it reduced a wide range of FXS symptoms, including learning and memory deficits and auditory hypersensitivity, as well as morphological changes and signaling abnormalities characteristic of the disease,” reports Dr. Lindemann.

Although the CTEP drug itself is not being developed for humans, the findings have significance for human FXS. “The most important implications of our study are that many aspects of FXS are not caused by an irreversible disruption of brain development, and that correction of the altered glutamate signaling can provide widespread therapeutic benefit,” explains Dr. Bear.

The researchers agree that future work may shed light on treatment of FXS in humans. “It will be of great interest to see whether treatment of FXS in human patients can be addressed in a similar broad fashion and with a similar magnitude as was suggested by our preclinical data,” conclude Dr. Lindemann and Dr. Bear. “We anticipate that disturbed signaling can be corrected with other small molecule therapies targeting mGlu5 that are currently being used in human clinical trials.”

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. Michalon et al.: “Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice.”
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posted by Debra on 12 Apr 2012 at 8:07 am

Have you done studies on what causes autism with out having Fragile X? Because that is the first thing my doctors looked at but found no signs of Fragile X.

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posted by Paul on 13 Apr 2012 at 3:19 am

In the mist of depressing daily news, this is the best information in a while; kudos to Dr. Lothar Lindemann, Dr. Mark Bear and their teams. GOD bless you all.

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‘Reversal Of Fragile X Syndrome In Mouse Model’

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New Genes Discovered That Contribute To Autism: Links To Psychiatric Disorders

Main Category: Autism
Also Included In: Psychology / Psychiatry;  Schizophrenia
Article Date: 21 Apr 2012 – 0:00 PDT

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A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ways in individuals with psychiatric disorders such as schizophrenia, symptoms of which may begin in adolescence or adulthood. Results of the study by a multi-institutional research team will appear in the April 27 issue of Cell and have been released online.

“By sequencing the genomes of a group of children with neurodevelopmental abnormalities, including autism, who were also known to have abnormal chromosomes, we identified the precise points where the DNA strands are disrupted and segments exchanged within or between chromosomes. As a result, we were able to discover a series of genes that have a strong individual impact on these disorders,” says James Gusella, PhD, director of the Massachusetts General Hospital Center for Human Genetic Research (MGH CHGR) and senior author of the Cell paper. “We also found that many of these genes play a role in diverse clinical situations – from severe intellectual disability to adult-onset schizophrenia – leading to the conclusion that these genes are very sensitive to even subtle perturbations.”

Physicians evaluating children with neurodevelopmental abnormalities often order tests to examine their chromosomes, but while these tests can detect significant abnormalities in chromosomal structure, they typically cannot identify a specific gene as being disrupted. Structural variants known as balanced chromosome abnormalities (BCAs) – in which DNA segments are moved into different locations in the same chromosome or exchanged with segments in other chromosomes, leaving the overall size of the chromosomes unchanged – are known to be significantly more common in individuals with autism spectrum disorders than in a control population. Several years ago Gusella and Cynthia Morton, PhD, of Brigham and Women’s Hospital initiated the Developmental Genome Anatomy Project to identify developmentally important genes by investigating BCAs, but the task of identifying specific chromosome breakpoints has been slow and laborious.

To get a clearer view of the potential impact of BCAs on autism, the research team took advantage of a new approach developed by Michael Talkowski, PhD, of the MGH CHGR, lead author of the Cell paper, which allows the sequencing of an individual’s entire genome in a way that detects the breakpoints of BCAs. The whole procedure can be accomplished in less than two weeks rather than the many months previously required. Screening the genomes of 38 individuals diagnosed with autism or other neurodevelopmental disorders found chromosomal breakpoints and rearrangements in non-protein-coding regions that disrupted 33 genes, only 11 of which previously had been suspected in these disorders.

As they compiled their results, the researchers were struck by how many of the BCA-disrupted genes they identified had been associated with psychiatric disorders in previous studies. To test their observation, they examined data from the largest genome-wide association study in schizophrenia to date – in collaboration with Mark Daly, PhD, also of the MGH CHGR who led that study – and found that a significant number of the BCA-disrupted genes identified in the current study were associated with schizophrenia when altered by more subtle variants that are common in the population.

“The theory that schizophrenia is a neurodevelopmental disorder has long been hypothesized, but we are just now beginning to uncover specific portions of the genetic underpinnings that may support that theory,” says Talkowski. “We also found that different gene variations – deletion, duplication or inactivation – can result in very similar effects, while two similar changes at the same site might have very different neurodevelopmental manifestations. We suspected that the genetic causes of autism and other neurodevelopmental abnormalities are complex and likely to involve many genes, and our data support this.”

Adds Gusella, who is the Bullard Professor of Neurogenetics at Harvard Medical School, “Our results suggest that many genes and pathways are important to normal brain development and that perturbation of some can lead to a great variety of developmental or psychiatric conditions, warranting extensive further study. We’re hoping to investigate how these gene disruptions alter other genes and pathways and how prevalent these rearrangements are in the general population. This is a first step in what will be a long journey toward understanding genes underlying the pathophysiology of neurodevelopmental and psychiatric disorders and developing new clinical treatments.”

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. Researchers from 15 institutions in three countries – including Massachusetts General Hospital, the Broad Institute, Brigham and Women’s Hospital and Harvard Medical School – collaborated with Talkowski, Gusella, Morton and Daly on the investigation. Support for the study includes grants from the National Institutes of Health, the Simons Foundation Autism Research Initiative and Autism Speaks.
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The Psychiatrist and Your Child With Autism Spectrum Disorders

If you have a child with an intellectual disability such as Autism, Aspergers Syndrome, or Pervasive Development Disorder then chances are you have a psychiatrist in your life. They are responsible for putting mood altering substances into your child. Often times this is very necessary, and is done for good reason. The problem that occurs is that often times the psychiatrist is making their determination based on ten to fifteen minutes of face time. With fewer and fewer providers accepting Medicaid, it is just a fact of life that they are stretched so thin. They are the experts when it comes to pharmacology, but you are the expert when it comes to your child.

Here are a few things to remember when you are going to see the psychiatrist. The first thing that is inevitably going to happen is that they are going to talk to you rather than your child. They may talk briefly to your child, but 90% of their determination of treatment will come from what you have to say. You should be prepared for this ahead of time. Write down your concerns. Possibly in short bullet points and give it to the doctor when you walk into their office. You want these issues thought out ahead of time for two reasons. The first is that you want plenty of time to think about these before you get into the office. You don’t want to say “Oh he seems agitated lately”, only to think about it later and realize he hasn’t been sleeping well. He could be agitated because he hasn’t been sleeping. The doctor may prescribe a med to control the agitation, that doesn’t address the sleeping. You want the time to think thing through. The second reason is that you want all of your concerns addressed. If you hand the doctor a short concise bullet pointed note, then you have a much better chance of succeeding in this. Don’t make it long and drawn out. Remember the psychiatrist is well intentioned and wants the best for your child, but is limited on time.

The last thing you should do before you leave the psychiatrist’s office is ask them how they would prefer you communicate with them in between visits. I have found that a lot of doctors would appreciate a short email from time to time. Emphasis on the word short. The psychiatrist is a part of your child’s team, but they are often the outsider. Find out from them how, and how much they would like to be informed on your child.

These tips will take you a long way when it comes to your visits with the psychiatrist. Everyone wants whats best for your child, you just have to assert a little. To ensure that your child gets the best care possible.

More information and resources about Autism Spectrum Disorders can be found at my website http://www.autismspectrumresources.blogspot.com/.

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