 |
|
More gene mutations linked to autism risk
June 26, 2009Combination of inherited and new mutations acting together
More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine and several collaborating institutions. This study identified 27 different genetic regions where rare copy number variations - missing or extra copies of DNA segments - were found in the genes of children with autism spectrum disorders (ASDs), but not in the healthy controls. The complex combination of multiple genetic duplications and deletions is thought to interfere with gene function, which can disrupt the production of proteins necessary for normal neurological development.
"We focused on changes in the exons of DNA-protein-coding areas in which deletions or duplications are more likely to directly disrupt biological functions," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia and associate professor of Pediatrics at the University of Pennsylvania School of Medicine. "We identified additional autism susceptibility genes, many of which, as we previously found, belong to the neuronal cell adhesion molecule family involved in the development of brain circuitry in early childhood." He added that the team discovered many "private" gene mutations, those found only in one or a few individuals or families-an indication of genetic complexity, in which many different gene changes may contribute to an autism spectrum disorder.
"We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome and we suspect that different combinations of these variations contribute to autism susceptibility," said Maja Bucan, Ph.D., professor of Genetics at the University of Pennsylvania School of Medicine and Chair of the Steering committee for Autism Speaks' Autism Genetic Resource Exchange (AGRE). "We are grateful to families of children with autism spectrum disorders for their willingness to participate in genetic studies because family-based studies have many advantages. We have learned a lot both from genetic analyses of children with autism as well as analyses of their patents and their unaffected siblings."
The researchers compared genetic samples of 3,832 individuals from 912 families with multiple children with ASDs from the AGRE cohort against genetic samples of 1,070 disease-free children from The Children's Hospital of Philadelphia. This study also uncovered two novel genes in which variations were found, BZRAP1 and MDGA2 - thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants of these genes were transmitted in some, but not all, of the affected individuals in families.
The findings were published in the June 26 edition of the journal PloS Genetics.
By further refining the genetic landscape of ASDs, the current study expands the findings of two large autism gene studies published in April, led by Hakonarson and co-authored by Gerard Schellenberg, Ph.D., professor of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine, Bucan and others. One study was the first to report common gene variants in ASDs. The other identified copy number variants that raise the risk of having an ASD. Both studies found gene changes on two biological pathways with crucial roles in early central nervous system development. Hakonarson and Bucan said the latest findings reinforce the view that multiple gene variants, both common and rare, may be interacting to cause the heterogeneous group of disorders included under autism spectrum disorders.
University of Pennsylvania School of Medicine
"We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome and we suspect that different combinations of these variations contribute to autism susceptibility," said Maja Bucan, Ph.D., professor of Genetics at the University of Pennsylvania School of Medicine and Chair of the Steering committee for Autism Speaks' Autism Genetic Resource Exchange (AGRE). "We are grateful to families of children with autism spectrum disorders for their willingness to participate in genetic studies because family-based studies have many advantages. We have learned a lot both from genetic analyses of children with autism as well as analyses of their patents and their unaffected siblings."
The researchers compared genetic samples of 3,832 individuals from 912 families with multiple children with ASDs from the AGRE cohort against genetic samples of 1,070 disease-free children from The Children's Hospital of Philadelphia. This study also uncovered two novel genes in which variations were found, BZRAP1 and MDGA2 - thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants of these genes were transmitted in some, but not all, of the affected individuals in families.
The findings were published in the June 26 edition of the journal PloS Genetics.
By further refining the genetic landscape of ASDs, the current study expands the findings of two large autism gene studies published in April, led by Hakonarson and co-authored by Gerard Schellenberg, Ph.D., professor of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine, Bucan and others. One study was the first to report common gene variants in ASDs. The other identified copy number variants that raise the risk of having an ASD. Both studies found gene changes on two biological pathways with crucial roles in early central nervous system development. Hakonarson and Bucan said the latest findings reinforce the view that multiple gene variants, both common and rare, may be interacting to cause the heterogeneous group of disorders included under autism spectrum disorders.
University of Pennsylvania School of Medicine
Autism Current Events and Autism News RSSPushing the brain to find new pathways
Until recently, scientists believed that, following a stroke, a patient had about six months to regain any lost function. After that, patients would be forced to compensate for the lost function by focusing on their remaining abilities.
Why can't chimps speak?
If humans are genetically related to chimps, why did our brains develop the innate ability for language and speech while theirs did not?
IACC includes vaccine research objective in strategic plan for autism research
Autism Speaks is encouraged by yesterday's decision of the Interagency Autism Coordinating Committee (IACC) to include vaccine research studies in the objectives of the updated Strategic Plan for Autism Research.
The narrow line between love and jealousy
A new study carried out at the University of Haifa has found that the hormone oxytocin, the "love hormone", which affects behaviors such as trust, empathy and generosity, also affects opposite behaviors, such as jealousy and gloating.
Children with autism show slower pupil responses, MU study finds
Autism affects 1 in 150 children today, making it more common than childhood cancer, juvenile diabetes and pediatric AIDS combined.
Language support is important for children with autism
Teachers and parents must be vigilant in observing difficulties with language comprehension, reading and spelling in children and young people with autism, Asperger's syndrome and ADHD.
New study reveals handwriting is real problem for children with autism
Handwriting skills are crucial for success in school, communication, and building children's self-esteem.
Autism 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.
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. |
 |
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. |
 |
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... |
 |
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. |
 |
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... |
 |
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> |
 |
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: |
 |
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... |
 |
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... |
 |
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 |