Tag Archives: Irritability

Question?: Rett Syndrome In Boys

Lisa asks…

what is Rett’s syndrome?

admin answers:

What is Rett syndrome?
Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder. It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.
Http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=16&Itemid=1000

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Question?: Rett Syndrome Causes

Michael asks…

what is some current research for rett syndrome?

i’m writing it in my brochure and i can’t find it anywhere!

admin answers:

Here are some great facts! Brochures are great when they are loaded with lots of facts and graphics. Use some of these:

Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

Good luck in your work! 🙂

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Autism Information and Alternative Care

@chiropractic I Voted

Chiropractic care as a complementary and alternative strategy for care for individuals with autism. Unfortunately there is limited high quality research into alternative methods for autistic individuals in general. That being said, there is significant anecdotal support for non-conventional care with parents reporting improvements in behavioral issues such as tantrums, outbursts, repetitive actions and sleep, for example.

The message of chiropractic is that the body has a remarkable ability to self-heal and repair. The power that made the body is the power that heals the body. The body innately knows what to do to heal a scratched finger, to mend a broken bone, to fight off infection… It’s truly amazing when you think of it! Chiropractic itself doesn’t directly heal you, but it mediates the process by allowing the nervous system to communicate more freely. Chiropractic adjustments to misaligned or hypomobile vertebrae puts the body into better balance physically and neurologically such that the body can do what it’s supposed to do at its best. Also, chiropractors recognize that what you put in your body really does matter. Whatever you eat, do and think makes a difference in your overall health.

For the record, chiropractors do not diagnose or claim to cure autism. Instead, they seek to maximize one’s inherent healing abilities by addressing physical, chemical and emotional stressors that influence overall well-being. Chiropractors play an important part of the team approach to care along with conventional therapies.

As in any individual, physical factors play a role in well-being. Chiropractors will evaluate posture, ranges or motion, tightness/tenderness in muscles and/or joints, spinal alignment and overall function. Traumas can result in pain, irritability and outbursts in those with autism, which affects quality of life. Chiropractic care is hands on, gentle and effective at addressing physical concerns. There is also some preliminary research demonstrating benefits in behavioral problems as well as attenuation of sensorimotor issues among autistic individuals following chiropractic care.

Chemical factors are anything that is eaten or breathed in. Diet plays a huge role in health and is particularly important in individuals with autism due to the gut’s role. Dietary suggestions for those with autism include probiotic support and a generally clean, healthy diet. This means reduce or eliminate refined sugars, fast foods, preservatives and artificial colors/sweeteners/flavors. Home-cooked meals are best and should include whole foods, vegetables and healthy fats. Food allergy/sensitivity testing may also be beneficial. Avoiding foods that one is sensitive to may improve overall digestion and reduce inflammation. If allergy testing isn’t feasible, one can try avoiding foods that are commonly problematic – for example: wheat, dairy, corn and soy. Whatever you do, don’t make immediate, drastic changes as this can be both upsetting and challenging. Phase things in and out so that the change is more gradual and then try to maintain the diet for at least a month to determine if there is improvement.

Emotional factors play a role both in the autistic individual as well as the household. Children with autism are more prone to anxiety disorders, feelings of anger and difficulty in adapting to change. These may manifest as behavioral issues as well as musculoskeletal signs and symptoms. For the family, challenges in raising a child with autism commonly results in emotional stress as well as strain on family finances. Stress can present as aches, pains and headaches as a result of tense muscles and joints. Families of autistic children may also benefit from chiropractic care as a means of relieving pain as well as stress.

Physical, chemical and emotional stressors are all inter-related. By looking at the big picture of one’s health, overall health and well-being can be maximized. Even if a child goes from 20 tantrums per day to five, it’s worth it. Or if a child can finally sleep through the night when under chiropractic care, it’s worth it. A trial of chiropractic care may make all the difference.

Dr. Serbinski is a chiropractor practicing in North York, Ontario. She has a holistic approach to health and witnesses the benefits of chiropractic every day. For pain relief, correction of mechanical problems of the musculoskeletal system and for general wellness, chiropractic works. For more information, please visit Dr. Serbinski’s chiropractic website at: http://drserbinski.ca or her Google Places page at: http://g.co/maps/q48fd

Article Source: http://EzineArticles.com/?expert=Dr._Elisabeth_Serbinski
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Antioxidant May Reduce Irritability In Kids With Autism

Editor’s Choice
Main Category: Autism
Also Included In: Pediatrics / Children’s Health;  Psychology / Psychiatry
Article Date: 05 Jun 2012 – 0:00 PDT Current ratings for:
‘Antioxidant May Reduce Irritability In Kids With Autism’
4 stars5 stars
Researchers have found that a specific antioxidant, called N-Acetylcysteine (NAC), may reduce irritability in children with autism.

The pilot trial, conducted by researchers at Stanford University School of Medicine and Lucile Packard Children’s Hospital, involved 31 children aged 3 to 12 years with autism. The study is published in Biological Psychiatry.

The researchers found that NAC reduced irritability and repetitive behaviors of the children. However, before NAC can be recommended for children with autism, larger trials are needed in order to verify results from the pilot trial.

Between 60-70% of children with the disorder suffer from irritability. Antonio Hardan, M.D., an associate professor of psychiatry and behavioral sciences at Stanford and director of the Autism and Developmental Disabilities Clinic at Packard Children’s explained:

“We’re not talking about mild things: This is throwing, kicking, hitting, the child needing to be restrained. It can affect learning, vocational activities and the child’s ability to participate in autism therapies.”

One of the top priorities for researchers is to find new medications to treat autism and its symptoms. At present, aggression, irritability, and mood swings are all associated features of the disorder and are treated with second-generation antipsychotics.

However, these medications cause serious adverse effects including: involuntary motor movementsmetabolic syndrome – which increases the risk of developing diabetesweight gainAccording to the researchers, the side effects of NAC are usually mild. These adverse effects include decreased appetite, diarrhea, constipation, and nausea.

Another major problem of autism is the state of drug treatments for its core features, such as repetitive behaviors, social deficits, and language impairment. Hardan said: “Today, in 2012, we have no effective medication to treat repetitive behavior such as hand flapping or any other core features of autism.”

If results from this trial can be confirmed in larger trials, NAC could be the first drug available to treat repetitive behavior in autism.

The children who participated in the study were physically healthy and had no plans to change their established autism treatments during the trial. The children were given either NAC or placebo for 12 weeks and were assessed before the study and then every 4 weeks during the trial. The researchers used a number or different surveys in order to measure social behaviors, problem behaviors, adverse effects, and autistic preoccupations.

The researchers found that NAC reduced irritability scores from 13.1 to 7.2 on the Aberrant Behavior Checklist, a clinical scale for evaluating irritability. Although, NAC did not reduce irritability as much as antipsychotics, “this is still a potentially valuable tool to have before jumping on these big guns,” said Hardan.

In addition, the team found that NAC also reduced repetitive and stereotyped behaviors in the study participants.

Hardan explained:

“One of the reasons I wanted to do this trial was that NAC is being used by community practitioners who focus on alternative, non-traditional therapies. But there is no strong scientific evidence to support these interventions. Somebody needs to look at them.”

According to Hardan, the NAC used in the trial is different from the NAC for sale as a dietary supplement at pharmacies and grocery stores, and that the over-the-counter version may not produce the same results.

Hardan explained: “When you open the bottle from the drugstore and expose the pills to air and sunlight, it gets oxidized and becomes less effective.”

Even though the team did not examine how NAC works, they believe that it increases the capacity of the body’s main antioxidant network. Furthermore, other studies has indicated that the disorder is associated to an imbalance in excitatory and inhibitory neurotransmitters in the brain. NAC can modulate the glutamatergic family of excitatory neurotransmitters, which might be useful in autism.

Hardan concluded: “This was a pilot study. Final conclusions cannot be made before we do a larger trial.”

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

Visit our autism section for the latest news on this subject. “A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism”
Antonio Y. Hardan, Lawrence K. Fung, Robin A. Libove, Tetyana V. Obukhanych, Surekha Nair, Leonore A. Herzenberg, Thomas W. Frazier and Rabindra Tirouvanziam
Biological Psychiatry, June 2012, doi: 10.1016/j.biopsych.2012.01.014
Please use one of the following formats to cite this article in your essay, paper or report:

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5 Jun. 2012. APA

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‘Antioxidant May Reduce Irritability In Kids With Autism’

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N-acetylcysteine For Treating Irritability In Autism

Main Category: Autism
Also Included In: Psychology / Psychiatry
Article Date: 04 Jun 2012 – 0:00 PDT Current ratings for:
‘N-acetylcysteine For Treating Irritability In Autism’
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Autism is a developmental disorder that affects social and communication skills. Irritability is a symptom of autism that can complicate adjustment at home and other settings, and can manifest itself in aggression, tantrums, and self-injurious behavior. These disruptive behaviors are frequently observed in children with autism, which may considerably affect their ability to function at home or in school.

N-acetylcysteine (NAC) is approved by the US Food and Drug Administration for the treatment of acetaminophen (Tylenol) overdoses, but it may have other applications related to its effects in the brain. NAC helps maintain and restore glutathione, which play a key role in the antioxidant defense system. Additionally, cysteine as supplied by NAC treatment, stimulates a protein, the cystine-glutamate antiporter, resulting in the decrease of glutamatergic neurotransmission. NAC has two resulting effects: 1) it may protect brain cells by raising the level of a protective antioxidant metabolite called glutathione, and 2) it may reduce the excitability of the glutamate system by stimulating inhibitory receptors.

These drug actions are important because, although the causes of autism are unknown, it is clear that there are many influencing factors and scientists are pursuing multiple hypotheses. Two in particular relate to NAC: one theory is that autism may be caused by an imbalance between oxidants and antioxidants in the body; the other is that the glutamate system may be dysfunctional in individuals with autism.

These hypotheses led researchers at Stanford University and the Cleveland Clinic to conduct a pilot trial of NAC in children with autistic disorder. Children were randomized to receive either NAC or placebo daily for 12 weeks and their symptoms were evaluated four times during that period.

They found that irritability was significantly decreased in the children who received NAC. In addition, NAC was well-tolerated and caused minimal side effects.

Lead author Dr. Antonio Hardan commented, “Data from this preliminary trial suggest that NAC has the potential to be helpful in targeting irritability in children with autism. It is also unclear if NAC improves other symptom domains in autism.”

“At this point it is too early to tell how NAC reduced irritability in autism, but this finding will be an important addition to the field if it can be replicated,” said Dr. John Krystal, Editor of Biological Psychiatry, where the study is being published.

Dr. Hardan agreed, adding that “large randomized controlled trials are needed to attempt to replicate the findings from this pilot trial and to determine whether or not NAC is effective in targeting other symptoms observed in autism such as repetitive and restricted interests.” This small pilot study was the first step and so the next stages of work can now begin to determine whether NAC could potentially become an approved treatment for autism.

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. The article is “A Randomized Controlled Pilot Trial of Oral N-Acetylcysteine in Children with Autism” by Antonio Y. Hardan, Lawrence K. Fung, Robin A. Libove, Tetyana V. Obukhanych, Surekha Nair, Leonore A. Herzenberg, Thomas W. Frazier, and Rabindra Tirouvanziam (doi: 10.1016/j.biopsych.2012.01.014). The article appears in Biological Psychiatry, Volume 71, Issue 11 (June 1, 2012), published by Elsevier.
The authors’ affiliations, and disclosures of financial and conflicts of interests are available in the article.
John H. Krystal, M.D., is Chairman of the Department of Psychiatry at the Yale University School of Medicine and a research psychiatrist at the VA Connecticut Healthcare System. His disclosures of financial and conflicts of interests are available here.
Elsevier Please use one of the following formats to cite this article in your essay, paper or report:

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Elsevier. “N-acetylcysteine For Treating Irritability In Autism.” Medical News Today. MediLexicon, Intl., 4 Jun. 2012. Web.
5 Jun. 2012. APA

Please note: If no author information is provided, the source is cited instead.


posted by jmburke on 4 Jun 2012 at 9:51 am

just wondering? I have a daughter with aspergers, she also has Celiac and is on a restricted gluten-free diet. which many autistic children are on just because it does seem to help and in some cases extremely well. Does that have anything to do with the glutamate system they are discussing above???

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‘N-acetylcysteine For Treating Irritability In Autism’

Please note that we publish your name, but we do not publish your email address. It is only used to let you know when your message is published. We do not use it for any other purpose. Please see our privacy policy for more information.

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All opinions are moderated before being included (to stop spam)

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For any corrections of factual information, or to contact the editors please use our feedback form.

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Spurring Development of New Medicines

Posted by Joe Horrigan, M.D., Autism Speaks assistant vice president and head of medical research 

I am feeling particularly hopeful about the pace of new drug development to treat autism. In recent years, we’ve seen a rapid series of scientific breakthroughs and leaps in our understanding of the biology of autism. The moment is right to accelerate the development of medicines to treat the core symptoms of autism spectrum disorder (ASD). 

I recently returned from an exciting meeting of the EU-AIMS, short for the European Autism Interventions – A Multicentre Study for Developing New Medications. EU-AIMS, funded in part by Autism Speaks, is one of the largest collaborations of academic researchers, pharmaceutical companies and advocates working together to develop new medicines for ASD. I was so impressed by the level of collaboration, harmony and communication among these groups, and I believe this reflects the urgency that we all feel to make the most out of this unique alignment of energy and resources.

I have long been concerned about the lack of safe and effective medicines to treat ASD. Currently, there are only two approved medications in the United States, both to treat autism-related irritability. None are approved to treat autism’s core symptoms. Moreover, many individuals with ASD have a complexity disorders such as autism plus anxiety and/or insomnia and/or seizures and/or gastrointestinal issues. Clearly this makes their care more challenging.

Because of the lack of FDA-approved medications for autism, doctors are often obliged to prescribe drugs off label when treating persons with autism. This means that the drugs have been approved for other uses but not for autism-related indications. This is far from ideal, especially from a safety standpoint.

It is important to remind ourselves that drug development not only requires the investments of pharmaceutical companies, but is dependent on individuals with autism participating in the drug trials. This year, more trials are being launched, and several of these studies are quite large and may contribute to the approval of new medicines for the treatment of ASD and its related symptoms.

Part of my mission at Autism Speaks is to both encourage family participation and help ensure the safety of those who do choose to partake in clinical trials.

To that end, I have talked with pharmaceutical companies about medicines that may have potential benefit for individuals with ASD. These discussions have involved both drugs in development and those already available for other therapeutic uses. Our discussions have addressed study designs, outcome measures and safety practices that may enhance the value of the clinical trials while also attending to the best interests of the participants.   

From an advocacy perspective, another critical aspect of my work is to provide patients and families with a thorough understanding of the potential benefits of participating in drug trials as well as helping them to understand and assess the potential drawbacks and safety issues.

For these reasons, I have helped to develop Autism Speaks A Participant’s Guide to Autism Drug Research, a road map for patients and families who are considering participation in a clinical drug trial. You can read more about the guide and download it here.

There are real benefits to being a part of a trial. They include interacting with expert clinicians, having potential access to novel medicines and contributing to science and the greater good. But there are also risks and burdens. It’s important to understand how roles change when an individual shifts from being a patient to being a research subject. The Participant’s Guide describes how to assess the pros and cons of these different roles, and it walks families through several important considerations that will enhance their experience of participating in a research study.

Our collective efforts to assure that better medicines are made available for individuals with ASD depend on high-quality research that provides insight into the potential benefits and risks of these medicines. This essential knowledge is made possible by the thoughtful participation of individuals with ASD and their families. I and my colleagues at Autism Speaks are motivated to help in your decision-making around this important issue.

Families who want to consider a clinical trial can find more information on the Participate in Research page of our website. You can also visit www.clinicaltrials.gov, a searchable database of trials.

Thanks to all our families and volunteers for their support of this important work.

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Autism Articles – Autism Help For Mothers With Autistic Children Likely to Develop PTSD

Autism Articles

Whether we admit it or not, there is often initially a sense of resentment when our child is diagnosed as autistic. For parents who undergo readily accepted this truth it is a desired thing, but not most every parent in the sector is so ready to accept that fact. This is the reason why, according to Jean Genet, there are chances that parents may increment Post Traumatic Stress Disorder, or PTSD. Autism Articles

Further, women are a multitude of likely to boost this disorder. What Exactly Is PTSD? PTSD is a stress-related disorder wherein the body experiences extreme body fatigue that can lead to irritability, inability to adapt to surroundings, and in the worst cases depression. The symptoms take several months before they manifest, so it’s difficult to distinguish at first if a person is experiencing this condition or not.

As previously mentioned, mothers are more susceptible to developing PTSD compared to fathers. It is still really not scientifically explained why moms are more likely to develop the disorder, but it may be because of the mother’s role in the development of the baby. Because it is the mother who typically provides the bulk of the nurturing of the child until the offspring is born, there is a well-established connection between the two of them. The lack of ability to accept an autism diagnosis can lead to frustration and later develop into more serious reactions like anger — which itself may lead to physical abuse of both others and themselves as well.

PTSD Should Not Be Taken Lightly If this continues the child becomes a stressor, which leads the mother to more serious side effects like helplessness, guilt, despair, and in worst cases suicidal thoughts. This is one of the main reasons PTSD should never be taken lightly. If it is not addressed properly, it can lead to more serious ramifications until it ends in death. Autism Articles

But how do we know if someone suffers from PTSD? Here are a few telltale signs:

* Insomnia

* Poor Concentration

* Poor Memory

* Anger

* Blackouts

* Aggressive Behavior

* Suicidal Thoughts (Worst Cases) Autism Articles

The good news is that this condition can be addressed non-invasively. According to Genet, mothers with PTSD are, in principle, actually experiencing the same thing with their autistic children because PTSD also disrupts the brain’s switches. Don’t let your child suffer anymore! Lead your child out of his world through Autism Articles program now!

Autism Articles is a proven Autism Solution for your Child.

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