 |
|
Case Western Reserve research finds that the lack of specific gene plays role in autism
February 09, 2009It is estimated that three to six out of every 1,000 children in the United States have autism - and the number of diagnosed cases is rising. Autism is one of a group of series developmental problems called autism spectrum disorders (ASD) that appear in early childhood, usually before age 3. Through symptoms and severity vary, all autism disorders affect a child's ability to communicate and interact with others.
It's not clear whether this is due to better detection and reporting of autism, a real increase in the number of cases, or both.
That's why researchers at Case Western Reserve University, led by Gary Landreth, a professor of neurosciences and neurology at the School of Medicine, have pulled together a number of recent findings that link a common genetic pathway with a number of human syndromes and a newly-recognized genetic form of autism, publishing them in the January 29, 2009, issue of the prestigious journal Neuron.
Landreth, whose research team is made up of partners from the Cole Eye Institute at the Cleveland Clinic, the Louis Stokes Cleveland VA Medical Center and the University of Pennsylvania, says his lab in particular has been researching the class of enzymes called ERKs (extracellular signal regulated kinase), which are the central elements of a major intracellular signal transduction pathway. His research team has found that in animal models the ERKs - known as ERK 1 and ERK 2 - are required for normal brain, heart and facial development.
This common genetic pathway that acts to regulate the ERK signaling cascade is particularly important in brain development, learning, memory and cognition. It has been recently reported that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism.
According to Landreth, these syndromes, called neuro-craniofacial-cardiac syndromes (NCFCs), encompass a group of syndromes also typified by cardiac, craniofacial and neurological defects. Current research has found that they arise from mutations in the intracellular signaling pathway that regulates ERKs.
"Very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1," said Landreth, who also serves as director of the School of Medicine's Alzheimer's Research Laboratory. "What no one else realized is that the autistic children also have craniofacial and cardiac defects just like those children with NCFC syndromes."
Thus, Landreth says, mutations within the ERK signaling pathway appears to be a common cause for NCFC syndromes and those children with autism due to genetic changes in chromosome 16.
"Unexplained is why loss of ERK 1 is associated with autism and other ERK pathway mutations cause mental retardation and similar diseases," he said. "Our contribution to the autism story is that we recognized it was just like the NCFC syndromes and we are hypothesizing that they all arise from defects within a single genetic pathway."
Case Western Reserve University
Landreth, whose research team is made up of partners from the Cole Eye Institute at the Cleveland Clinic, the Louis Stokes Cleveland VA Medical Center and the University of Pennsylvania, says his lab in particular has been researching the class of enzymes called ERKs (extracellular signal regulated kinase), which are the central elements of a major intracellular signal transduction pathway. His research team has found that in animal models the ERKs - known as ERK 1 and ERK 2 - are required for normal brain, heart and facial development.
This common genetic pathway that acts to regulate the ERK signaling cascade is particularly important in brain development, learning, memory and cognition. It has been recently reported that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism.
According to Landreth, these syndromes, called neuro-craniofacial-cardiac syndromes (NCFCs), encompass a group of syndromes also typified by cardiac, craniofacial and neurological defects. Current research has found that they arise from mutations in the intracellular signaling pathway that regulates ERKs.
"Very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1," said Landreth, who also serves as director of the School of Medicine's Alzheimer's Research Laboratory. "What no one else realized is that the autistic children also have craniofacial and cardiac defects just like those children with NCFC syndromes."
Thus, Landreth says, mutations within the ERK signaling pathway appears to be a common cause for NCFC syndromes and those children with autism due to genetic changes in chromosome 16.
"Unexplained is why loss of ERK 1 is associated with autism and other ERK pathway mutations cause mental retardation and similar diseases," he said. "Our contribution to the autism story is that we recognized it was just like the NCFC syndromes and we are hypothesizing that they all arise from defects within a single genetic pathway."
Case Western Reserve University
Autism Current Events and Autism News RSSAutism Consortium symposium draws record number of researchers, advocates, parents for autism update
The Autism Consortium, an innovative collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), held its fourth annual symposium on October 28th, 2009, at Harvard Medical School in Boston.
Sights and sounds of emotion trigger big brain responses
Researchers at the University of York have identified a part of the brain that responds to both facial and vocal expressions of emotion.
Clinical tests begin on medication to correct Fragile X defect
NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability.
Lessons from flu seasons past
Pregnant women who catch the flu are at serious risk for flu-related complications, including death, and that risk far outweighs the risk of possible side effects from injectable vaccines containing killed virus, according to an extensive review of published research and data from previous flu seasons.
Sex-based prenatal brain differences found
Prenatal sex-based biological differences extend to genetic expression in cerebral cortices. The differences in question are probably associated with later divergences in how our brains develop.
Testicular tumors may explain why some diseases are more common in children of older fathers
A rare form of testicular tumour has provided scientists with new insights into how genetic changes (mutations) arise in our children.
CSHL-led team discovers rare mutation dramatically increasing schizophrenia risk
An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.
Women outperform men when identifying emotion
Women are better than men at distinguishing between emotions, especially fear and disgust, according to a new study published in the online version of the journal Neuropsychologia.
Study finds mercury levels in children with autism and those developing typically are the same
In a large population-based study published online today, researchers at the UC Davis MIND Institute report that after adjusting for a number of factors, typically developing children and children with autism have similar levels of mercury in their blood streams. Mercury is a heavy metal found in other studies to adversely affect the developing nervous system.
Scientists demonstrate link between genetic defect and brain changes in schizophrenia
Researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion - a mutation that confers the highest known genetic risk for schizophrenia - is associated with changes in the development of the brain that ultimately affect how its circuit elements are assembled.
More Autism Current Events and Autism News Articles
 |
Ten Things Every Child with Autism Wishes You Knew by Ellen Notbohm (Author) Every parent, teacher, social worker, therapist, and physician should have this succinct and informative book in his/her back pocket. Framed with both humor and compassion, the book defines the top ten characteristics that illuminate the minds and hearts of children with autism. Ellen’s personal experiences as a parent, an autism columnist, and a contributor to numerous parenting magazines coalesce to create a guide for all who come in contact with a child on the autism spectrum. Don’t buy just one of this book — buy one for everyone who interacts with your child! Give the gift of understanding. |
 |
Choiceworks Visual Support System by Bee Visual LLC Choiceworks is a learning tool that uses a combination of 3 structured boards, visual images and built in choice making opportunities to effectively help children complete daily routines (morning, day & night), understand & control their feelings and improve their waiting skills (taking turns, not interrupting). The included companion books help teach your child about their daily schedule, dealing with transitions and managing their feelings. "The ChoiceworksTM Visual Support System provides exactly the kind of communication support that enables children to follow routines, make choices and demonstrate appropriate behavior. This system is a fabulous tool to help children participate more effectively with greater independence." Linda Hodgdon, M. ED, CCC-SLP Author of Visual Strategies... |
 |
Autism Spectrum Disorders: The Complete Guide to Understanding Autism, Asperger's Syndrome, Pervasive Developmental Disorder, and Other ASDs by Chantal Sicile-Kira (Author), Temple Grandin (Foreword) Winner of the 2005 Autism Society of America's Outstanding Literary Work of the Year Award Based on the author's personal and professional experiences, this comprehensive and accessible source covers all aspects of autism conditions, including Asperger's Syndrome and Pervasive Developmental Disorder. |
 |
1001 Great Ideas for Teaching and Raising Children with Autism Spectrum Disorders by Veronica Zysk (Author), Ellen Notbohm (Author) Parents and professionals can now bypass countless hours spent seeking answers to the mystifying day-to-day challenges of autism. In a snappy, can-do format, this insightful book offers page after page of try-it-now solutions that have worked for thousands of children grappling with social, sensory, behavioral, and self-care issues, plus many more. |
 |
Phonics Word Master by Zizzle Phonics Word Master is designed to teach your child the fundamental building blocks of reading: letter names, letter sounds, and beginning spelling, using the Hooked on Phonics curriculum. Fun music and engaging animations entertain and the Skill Builder Review Button shows off what your child just learned! Features: LCD screen for visual reinforcementFull alphabet keypadSkill Builder Review ButtonSeven interactive modesIdentify Letter NamesFind Letter NamesIdentify Letter SoundsFind Letter SoundsSpell a wordSound out a wordAlphabet Learning SongRequires 3 "AA" batteries, included.Measures 10.3" W x 8"HM/ul> |
 |
Autism: The Musical Starring: Elaine Hall, Rosanne Katon, Kristen Stills, Stephen Stills Directed By: Tricia Regan Autism: The Musical follows the extraordinary and innovative acting coach Elaine Hall, five autistic children, and their parents as they improbably, heroically mount a full-length original stage production. Through trial and error, tears and laughter, these incredible families learn to communicate their feelings in song and performance, finding solace and joy in the act of creating. A veritable feast of astounding breakthroughs and heartbreaking hardship, this spellbinding film offers a full-throated celebration of kids living with this increasingly prevalent disorder. Director Tricia Regan vividly captures the individual personalities and problems of each child, from precocious Henry who talks a mile-a-minute about dinosaurs to Neal, a sensitive and articulate boy who... |
 |
Thinking in Pictures, Expanded Edition: My Life with Autism by Temple Grandin (Author) Temple Grandin, Ph.D., is a gifted animal scientist who has designed one third of all the livestock-handling facilities in the United States. She also lectures widely on autism—because Temple Grandin is autistic, a woman who thinks, feels, and experiences the world in ways that are incomprehensible to the rest of us. In this unprecedented book, Grandin delivers a report from the country of autism. Writing from the dual perspectives of a scientist and an autistic person, she tells us how that country is experienced by its inhabitants and how she managed to breach its boundaries to function in the outside world. What emerges in Thinking in Pictures is the document of an extraordinary human being, one who, in gracefully and lucidly bridging the gulf between her condition and our... |
 |
Ten Things Your Student with Autism Wishes You Knew by Ellen Notbohm (Author), Veronica Zysk (Contributor) Ellen Notbohm's first book, Ten Things Every Child with Autism Wishes You Knew, was a shot heard throughout the worldwide autism community, branded by readers as "required reading for all social service workers, teachers and relatives of children with autism." Now, for the teacher in all of us comes Ten Things Your Student with Autism Wishes You Knew. The unique perspective of a child's voice is back to help us understand the thinking patterns that guide their actions, shape an environment conducive to their learning style, and communicate with them in meaningful ways. Ten Things Your Student with Autism Wishes You Knew affirms that autism imposes no inherent upper limits on achievement, that both teacher and child "can do it." It's the game plan every educator, parent, or family member... |
 |
Since We're Friends: An Autism Picture Book by Celeste Shally (Author), David Harrington (Illustrator) Children with autism struggle to make friends and navigate social situations. However, one child can make a significant difference in the life of a child with autism by offering compassion, understanding and friendship. Since We re Friends is about two boys. One has autism, the other does not. The story of their relationship provides practical examples of how to make such a friendship work. It will help children see that their peers with autism can make a fun, genuine contribution to friendship. From the publisher: |
 |
The Autism Acceptance Book: Being a Friend to Someone With Autism by Ellen Sabin (Author), Ellen Sabin (Illustrator) The Autism Acceptance Book is an interactive, educational, and character-building book that introduces children to the challenges faced by people with autism while also supporting their personal journey toward appreciating and respecting people's differences. This book offers educational information, conversation-starters, and engaging exercises that invite children to "walk in someone else's shoes" as they learn to treat others the same ways they would like to be treated themselves. |
| © 2009 BrightSurf.com |