 |
|
Further gene mutations linked to autism risk
June 29, 2009Pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP). The 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, but not in the healthy controls. The findings are published June 26 in the open-access journal PLoS Genetics.
Autism spectrum disorders (ASDs) are common neurodevelopmental syndromes with a strong genetic component. ASDs are characterized by disturbances in social behavior, impaired verbal and nonverbal communication, repetitive behaviors and/or a restricted range of interests. The genetics underlying ASDs is complex and remains poorly understood.
The researchers compared genetic samples of 3,832 individuals from 912 families with multiple autistic children against genetic samples of 1,070 disease-free children. Besides the identification of 27 regions harboring rare variants in children with ASDs, the study also uncovered two novel genes where variations were found, BZRAP1 and MDGA2 - thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants on these genes were passed down in some, but not all, of the affected individuals in families.
"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. "We identified additional autism susceptibility genes, many of which 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.
Hakonarson and co-author Maja 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. "We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome, and it is becoming clear that different combinations of these variations contribute to autism susceptibility," said Bucan.
The Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks, provided genetic biomaterials and clinical data from families that have more than one family member diagnosed with an Autism Spectrum Disorder. Blood samples donated by children and their families at CHOP were used as healthy controls. AGRE makes data publicly available to qualified researchers worldwide.
Public Library of Science
"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. "We identified additional autism susceptibility genes, many of which 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.
Hakonarson and co-author Maja 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. "We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome, and it is becoming clear that different combinations of these variations contribute to autism susceptibility," said Bucan.
The Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks, provided genetic biomaterials and clinical data from families that have more than one family member diagnosed with an Autism Spectrum Disorder. Blood samples donated by children and their families at CHOP were used as healthy controls. AGRE makes data publicly available to qualified researchers worldwide.
Public Library of Science
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. |
 |
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> |
 |
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... |
 |
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 |