Tag Archives: Pediatric Cancer

Question?: Pdd Nos Symptoms

Robert asks…

Can someone please explain Autism to me? My son never lost his memory or language before!?

My three year old is speech and lanuguage delayed. They are testing him for Autism.

admin answers:

“What is Autism? An Overview

Autism is a complex neurobiological disorder that typically lasts throughout a person’s lifetime. It is part of a group of disorders known as Autism Spectrum Disorders (ASD). Today, 1 in 150 individuals is diagnosed with autism, making it more common than pediatric cancer, diabetes, and AIDS combined. It occurs in all racial, ethnic, and social groups and is four times more likely to strike boys than girls. Autism impairs a person’s ability to communicate and relate to others. It is also associated with rigid routines and repetitive behaviors, such as obsessively arranging objects or following very specific routines. Symptoms can range from very mild to quite severe.

Autism was first identified in 1943 by Dr. Leo Kanner of Johns Hopkins Hospital. At the same time, a German scientist, Dr. Hans Asperger, described a milder form of the disorder that is now known as Asperger Syndrome. These two disorders are listed in the DSM IV (Diagnostic and Statistical Manual of Mental Disorders) as two of the five developmental disorders that fall under the Autism Spectrum Disorders. The others are Rett Syndrome, PDD NOS (Pervasive Developmental Disorder), and Childhood Disintegrative Disorder. All of these disorders are characterized by varying degrees of impairment in communication skills and social abilities, and also by repetitive behaviors. For more discussion on the range of diagnoses that comprise Autism Spectrum Disorder, click here.

Autism Spectrum Disorders can usually be reliably diagnosed by age 3, although new research is pushing back the age of diagnosis to as early as 6 months. Parents are usually the first to notice unusual behaviors in their child or their child’s failure to reach appropriate developmental milestones. Some parents describe a child that seemed different from birth, while others describe a child who was developing normally and then lost skills. Pediatricians may initially dismiss signs of autism, thinking a child will “catch up,” and may advise parents to “wait and see.” New research shows that when parents suspect something is wrong with their child, they are usually correct. If you have concerns about your child’s development, don’t wait: speak to your pediatrician about getting your child screened for autism.

If your child is diagnosed with autism, early intervention is critical to gain maximum benefit from existing therapies. Although parents may have concerns about labeling a toddler as “autistic,” the earlier the diagnosis is made, the earlier interventions can begin. Currently, there are no effective means to prevent autism, no fully effective treatments, and no cure. Research indicates, however, that early intervention in an appropriate educational setting for at least two years during the preschool years can result in significant improvements for many young children with Autism Spectrum Disorders. As soon as autism is diagnosed, early intervention instruction should begin. Effective programs focus on developing communication, social, and cognitive skills.”

“Did you know…
1 in 150 children is diagnosed with autism
1 in 94 boys is on the autism spectrum
67 children are diagnosed per day
A new case is diagnosed almost every 20 minutes
More children will be diagnosed with autism this year than with AIDS, diabetes & cancer combined
Autism is the fastest-growing serious developmental disability in the U.S.
Autism costs the nation over $90 billion per year, a figure expected to double in the next decade
Autism receives less than 5% of the research funding of many less prevalent childhood diseases
Boys are four times more likely than girls to have autism
There is no medical detection or cure for autism”

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Question?: Autism Symptoms Toddler Boys

Sandy asks…

What is Autism can some one tell me?

Please explain in your own words then give me links thanks!

admin answers:

Autism is a complex neurobiological disorder that typically lasts throughout a person’s lifetime. It is part of a group of disorders known as autism spectrum disorders (ASD). Today, 1 in 150 individuals is diagnosed with autism, making it more common than pediatric cancer, diabetes, and AIDS combined. It occurs in all racial, ethnic, and social groups and is four times more likely to strike boys than girls. Autism impairs a person’s ability to communicate and relate to others. It is also associated with rigid routines and repetitive behaviors, such as obsessively arranging objects or following very specific routines. Symptoms can range from very mild to quite severe.

Autism was first identified in 1943 by Dr. Leo Kanner of Johns Hopkins Hospital. At the same time, a German scientist, Dr. Hans Asperger, described a milder form of the disorder that is now known as Asperger Syndrome (read more). These two disorders are listed in the DSM IV (Diagnostic and Statistical Manual of Mental Disorders) as two of the five developmental disorders that fall under the autism spectrum disorders. The others are Rett Syndrome, PDD NOS (Pervasive Developmental Disorder), and Childhood Disintegrative Disorder. All of these disorders are characterized by varying degrees of impairment in communication skills and social abilities, and also by repetitive behaviors. For more discussion on the range of diagnoses that comprise autism spectrum disorder, click here.

Autism spectrum disorders can usually be reliably diagnosed by age 3, although new research is pushing back the age of diagnosis to as early as 6 months. Parents are usually the first to notice unusual behaviors in their child or their child’s failure to reach appropriate developmental milestones. Some parents describe a child that seemed different from birth, while others describe a child who was developing normally and then lost skills. Pediatricians may initially dismiss signs of autism, thinking a child will “catch up,” and may advise parents to “wait and see.” New research shows that when parents suspect something is wrong with their child, they are usually correct. If you have concerns about your child’s development, don’t wait: speak to your pediatrician about getting your child screened for autism.

If your child is diagnosed with autism, early intervention is critical to gain maximum benefit from existing therapies. Although parents may have concerns about labeling a toddler as “autistic,” the earlier the diagnosis is made, the earlier interventions can begin. Currently, there are no effective means to prevent autism, no fully effective treatments, and no cure. Research indicates, however, that early intervention in an appropriate educational setting for at least two years during the preschool years can result in significant improvements for many young children with autism spectrum disorders. As soon as autism is diagnosed, early intervention instruction should begin. Effective programs focus on developing communication, social, and cognitive skills.

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Question?: Autism Symptoms Toddler Boys

Nancy asks…

what is autism some1 tell me cause its my project tell me smart person?

i need help

admin answers:

Autism speaks:
Autism is a complex neurobiological disorder that typically lasts throughout a person’s lifetime. It is part of a group of disorders known as Autism Spectrum Disorders (ASD). Today, 1 in 150 individuals is diagnosed with autism, making it more common than pediatric cancer, diabetes, and AIDS combined. It occurs in all racial, ethnic, and social groups and is four times more likely to strike boys than girls. Autism impairs a person’s ability to communicate and relate to others. It is also associated with rigid routines and repetitive behaviors, such as obsessively arranging objects or following very specific routines. Symptoms can range from very mild to quite severe.

Autism was first identified in 1943 by Dr. Leo Kanner of Johns Hopkins Hospital. At the same time, a German scientist, Dr. Hans Asperger, described a milder form of the disorder that is now known as Asperger Syndrome (read more). These two disorders are listed in the DSM IV (Diagnostic and Statistical Manual of Mental Disorders) as two of the five developmental disorders that fall under the Autism Spectrum Disorders. The others are Rett Syndrome, PDD NOS (Pervasive Developmental Disorder), and Childhood Disintegrative Disorder. All of these disorders are characterized by varying degrees of impairment in communication skills and social abilities, and also by repetitive behaviors. For more discussion on the range of diagnoses that comprise Autism Spectrum Disorder, click here.

Autism Spectrum Disorders can usually be reliably diagnosed by age 3, although new research is pushing back the age of diagnosis to as early as 6 months. Parents are usually the first to notice unusual behaviors in their child or their child’s failure to reach appropriate developmental milestones. Some parents describe a child that seemed different from birth, while others describe a child who was developing normally and then lost skills. Pediatricians may initially dismiss signs of autism, thinking a child will “catch up,” and may advise parents to “wait and see.” New research shows that when parents suspect something is wrong with their child, they are usually correct. If you have concerns about your child’s development, don’t wait: speak to your pediatrician about getting your child screened for autism.

If your child is diagnosed with autism, early intervention is critical to gain maximum benefit from existing therapies. Although parents may have concerns about labeling a toddler as “autistic,” the earlier the diagnosis is made, the earlier interventions can begin. Currently, there are no effective means to prevent autism, no fully effective treatments, and no cure. Research indicates, however, that early intervention in an appropriate educational setting for at least two years during the preschool years can result in significant improvements for many young children with Autism Spectrum Disorders. As soon as autism is diagnosed, early intervention instruction should begin. Effective programs focus on developing communication, social, and cognitive skills.

Very long but it will help you with your project.

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Enlarged Brain Size, Autism, Epilepsy And Cancer Linked To Newly Found Gene Mutations

Editor’s Choice
Main Category: Genetics
Also Included In: Neurology / Neuroscience;  Cancer / Oncology;  Autism
Article Date: 03 Jul 2012 – 11:00 PDT Current ratings for:
Enlarged Brain Size, Autism, Epilepsy And Cancer Linked To Newly Found Gene Mutations
3 and a half stars5 stars
According to a study published online in Nature Genetics, researchers have identified three new mutations associated with megalencephaly (enlarged brain size), cancer, autism, hydrocephalus, skin growth disorders, epilepsy, and vascular anomalies.

The study, led by Seattle Children’s Research Institute, provides further evidence that the genetic make-up of an individual is not entirely determined at the time of conception. Earlier studies have shown that genetic changes can also occur after conception. In addition, the teams finding may lead to the possibilities of new treatments for these diseases.

The researchers discovered mutations in three genes, AKT3, PIK3R2 and PIK3CA, all of which are present in humans. However, variations in these genes lead to a wide variety of disorders, including cancer, megalencephaly, and other disorders.

Previous studies have found an associated between the PIK3CA gene and cancer, and it appears that this gene is able to make cancer more aggressive.

James Olson, M.D., Ph.D., a pediatric cancer expert at Seattle Children’s and Fred Hutchinson Cancer Research Center who was not affiliated with the study, explained:

“This study represents ideal integration of clinical medicine and cutting-edge genomics. I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children.”

The team ‘knocked it out of the park’ by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway.”

AKT3, PIK3R2 and PIK3CA all encode core components of the phosphatidylinositol-3-kinase (P13K)/AKT pathway, the “culprit pathway” referenced by Olson.

The teams findings provide new insight into chronic childhood conditions and disease and could lead to new treatments within ten years.

William Dobyns, M.D., a geneticist at Seattle Children’s Research Institute, explained:

“This is a huge finding that provides not only new insight for certain brain malformations, but also, and more importantly, provides clues for what to look for in less severe cases and in conditions that affect many children.

Kids with cancer, for example, do not have a brain malformation, but they may have subtle growth features that haven’t yet been identified. Physicians and researchers can now take an additional look at these genes in the search for underlying causes and answers.”

The next step for the researchers is to investigate deeper into their findings and uncover even more about the potential medical implications for children.

Jean-Baptiste Rivière, PhD, at Seattle Children’s Research Institute, concluded:

“Based on what we’ve found, we believe that we can eventually reduce the burden of and need for surgery for kids with hydrocephalus and change the way we treat other conditions, including cancer, autism, and epilepsy. This research truly helps advance the concept of personalized medicine.”

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

Visit our genetics section for the latest news on this subject. “De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes “
Jean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L Conway, Judith St-Onge, Jeremy A Schwartzentruber, Karen W Gripp, Sarah M Nikkel, Thea Worthylake, Christopher T Sullivan, Thomas R Ward, Hailly E Butler, Nancy A Kramer, Beate Albrecht, Christine M Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A Drolet, A Micheil Innes, Julie L Lauzon, Angela E Lin, Grazia M S Mancini et al.
Nature Genetics, June 2012, doi: 10.1038/ng.2331 Please use one of the following formats to cite this article in your essay, paper or report:

MLA

Grace Rattue. “Enlarged Brain Size, Autism, Epilepsy And Cancer Linked To Newly Found Gene Mutations.” Medical News Today. MediLexicon, Intl., 3 Jul. 2012. Web.
5 Jul. 2012. APA

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


‘Enlarged Brain Size, Autism, Epilepsy And Cancer Linked To Newly Found Gene Mutations’

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New Gene Mutations Found That Lead To Enlarged Brain Size, Cancer, Autism, Epilepsy

Main Category: Neurology / Neuroscience
Also Included In: Genetics;  Cancer / Oncology;  Autism
Article Date: 03 Jul 2012 – 0:00 PDT Current ratings for:
New Gene Mutations Found That Lead To Enlarged Brain Size, Cancer, Autism, Epilepsy
4 stars1 star
A research team led by Seattle Children’s Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly. Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also found to be associated with a constellation of disorders including cancer, hydrocephalus, epilepsy, autism, vascular anomalies and skin growth disorders. The study, “De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes,” was published online in Nature Genetics.

The discovery offers several important lessons and hope for the future in medicine. First, the research team discovered additional proof that the genetic make-up of a person is not completely determined at the moment of conception. Researchers previously recognized that genetic changes may occur after conception, but this was believed to be quite rare. Second, discovery of the genetic causes of these human diseases, including developmental disorders, may also lead directly to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are present in all humans, but mutations in the genes are what lead to conditions including megalencephaly, cancer and other disorders. PIK3CA is a known cancer-related gene, and appears able to make cancer more aggressive. Scientists at Boston Children’s Hospital recently published similar findings related to PIK3CA and a rare condition known as CLOVES syndrome in the American Journal of Human Genetics.

Physician researcher James Olson, MD, PhD, a pediatric cancer expert at Seattle Children’s and Fred Hutchinson Cancer Research Center who was not affiliated with the study, acknowledged the two decades-worth of work that led to the findings. “This study represents ideal integration of clinical medicine and cutting-edge genomics,” he said. “I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children. The team ‘knocked it out of the park’ by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway.” The genes – AKT3, PIK3R2 and PIK3CA – all encode core components of the phosphatidylinositol-3-kinase (P13K)/AKT pathway, the “culprit pathway” referenced by Olson.

The research provides a first, critical step in solving the mystery behind chronic childhood conditions and diseases. At the bedside, children with these conditions could see new treatments in the next decade. “This is a huge finding that provides not only new insight for certain brain malformations, but also, and more importantly, provides clues for what to look for in less severe cases and in conditions that affect many children,” said William Dobyns, MD, a geneticist at Seattle Children’s Research Institute. “Kids with cancer, for example, do not have a brain malformation, but they may have subtle growth features that haven’t yet been identified. Physicians and researchers can now take an additional look at these genes in the search for underlying causes and answers.”

Researchers at Seattle Children’s Research Institute will now delve more deeply into the findings, with an aim to uncover even more about the potential medical implications for children. “Based on what we’ve found, we believe that we can eventually reduce the burden of and need for surgery for kids with hydrocephalus and change the way we treat other conditions, including cancer, autism and epilepsy,” said Jean-Baptiste Rivière, PhD, at Seattle Children’s Research Institute. “This research truly helps advance the concept of personalized medicine.”

Drs. Dobyns, Rivière and team made this discovery through exome sequencing, a strategy used to selectively sequence the coding regions of the genome as an inexpensive but effective alternative to whole genome sequencing. An exome is the most functionally relevant part of a genome, and is most likely to contribute to the phenotype, or observed traits and characteristics, of an organism.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. Background On Researchers:
Seattle Children’s Research Institute conducted this study in collaboration with teams from University of Washington Genome Sciences Department, FORGE (Finding of Rare Disease Genes) Canada Consortium, Cedars Sinai Medical Center and University of Sussex.
Dr. Dobyns, who is also a UW professor of pediatrics, is a renowned researcher whose life-long work has been to try to identify the causes of children’s developmental brain disorders such as megalencephaly. He discovered the first known chromosome abnormality associated with lissencephaly (Miller-Dieker syndrome) while still in training in child neurology at Texas Children’s Hospital in 1983. That research led, 10 years later, to the discovery by Dobyns and others of the first lissencephaly gene known as LIS1.
Dr. Rivière is supported by a Banting Postdoctoral Fellowship from the Canadian Institutes of Health Research. As a lead researcher in the Dobyns lab, he also identified two new genes that cause Baraitser-Winter syndrome, a rare smooth brain malformation.
Co-authors on this study include: Jean-Baptiste Rivière, PhD, Banting Postdoctoral Fellow at Seattle Children’s Research Institute; Judith St-Onge, Seattle Children’s Research Institute; Christopher Sullivan, Seattle Children’s Research Institute; Thomas Ward, Seattle Children’s Research Institute; Ghayda Mirzaa, MD, University of Chicago; Brian O’Roak, PhD, University of Washington; Jay Shendure, MD, PhD, University of Washington; Mark O’Driscoll, PhD, University of Sussex; John Graham, MD, ScD, Cedars Sinai Medical Center; Kym Boycott, MD, PhD, University of Ottawa, Children’s Hospital of Eastern Ontario; and many other physicians and scientists from North America and Europe.
Seattle Children’s Please use one of the following formats to cite this article in your essay, paper or report:

MLA

Seattle Children’s. “New Gene Mutations Found That Lead To Enlarged Brain Size, Cancer, Autism, Epilepsy.” Medical News Today. MediLexicon, Intl., 3 Jul. 2012. Web.
5 Jul. 2012. APA

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


‘New Gene Mutations Found That Lead To Enlarged Brain Size, Cancer, Autism, Epilepsy’

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.

If you write about specific medications or operations, please do not name health care professionals by name.

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

Contact Our News Editors

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

Please send any medical news or health news press releases to:

Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.


View the original article here

What Are Autism Spectrum Disorders (ASD)?

ASD is a group of developmental disabilities that greatly affect a person’s social, communication and behavioral abilities that a person typically deals with throughout their lifetime. The Centers for Disease Control (CDC) estimate the rate of autism occurrence is 1 in 100 children in the United States. This high number of occurrences makes ASD more common than pediatric cancer, diabetes, and AIDS combined. There is not a blood test or x-ray that can detect autism. It is generally diagnosed through observation in the areas listed below. Autism has a wide range of symptoms and looks differently with each child, but typically includes difficulty in one or more areas each category listed:

COMMUNICATION:

* Poor or limited eye contact

* Limited language skills, both receptive and expressive, verbal and nonverbal.

* Repetition or echoing of phrases in place of normal language usage

* Loss of language skills as a toddler

* Lack of reciprocate language skills when language is present

SOCIAL SKILLS:

* Lack of shared attention with others

* Inability to play with other children, parallel play may exist.

* Not showing an interest in other people, sometimes even significant others such as parents.

* Not able to understand and learn social cues most children pick up on naturally.

BEHAVIOR:

* Unusual reactions to the way things smell, taste, feel or sound.

* Little or no fear of common things.

* Unusual or unrealistic fears.

* Craving physical contact or avoiding physical contact.

* Restricted or limited interests; repetitive patterns of behavior.

* Difficulty with changes in routine.

* Insistence on things being done the same way.

* Using behavior as a means to communicate needs.

* Using people as objects to get things done.

ASD is a complicated disorder and affects 1 in 100 children according to the Center for Disease Control (CDC). It affects boys 4:1 when compared to girls. Most children are diagnosed as young as age 3 by a pediatrician, neurologist or developmental specialist. Some children will show signs of autism but not be diagnosed. The key is know what to look for and be sure all areas listed above have at least one or more characteristic observable in a child. If as a parent you feel certain that something is going on with your child and the doctors won’t listen, or feel you are being over protecting, get a second opinion by someone trained in autism. Most of the time, parents are generally accurate in their assessment of their child. After all, a parent knows their child better than anyone else.

Kerri Duncan has been supporting families with children diagnosed with autism. She aims to increase awareness and educate those involved in the lives of individuals diagnosed with Autism Spectrum Disorder. If you need more information and support, click here to see how she can help you and your child reach a brighter tomorrow.

For more information on ASD, contact Kerri Duncan, Ed.D., BCaBA 417.860.7640 or go to http://www.facebook.com/hart4autism.

View the original article here