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Monday, May 14, 2007

Children with Autism Have Difficulty Recognizing Ordinary Words

Newswise — New research indicates that young children with autism have a difficult time recognizing ordinary words and more of their brains are occupied with this kind of task compared to typically developing youngsters.

“Rather than becoming an expert in recognizing words, their brains slow down,” said Patricia Kuhl, co-director of the University of Washington’s Institute for Learning and Brain Sciences and an expert in how babies acquire language.

“Because these children can’t distinguish what should be a familiar word their brains work too hard and they are unable to focus on new words. When they can’t understand a word, they miss everything else that follows in a sentence.”

The research is part of an effort to understand why language disorders are a characteristic of children with autism as scientists begin to peer inside the brains of some of these children to understand what’s behind their language deficits.

Kuhl will present findings that compare 19-to 30-month-old typically developing and autistic children during a keynote address Friday (May 4) at the Sixth International Meeting for Autism Research in Seattle.

She and her colleagues placed caps fitted with 20 sensors on the heads of the children and recorded brain waves that “leaked through their scalp” as the babies listened to familiar words (ball, dog, cat, book) and words that would be unfamiliar (verb, pint, bide, rate). The children also were exposed to common words that were recorded and played backwards. Backwards words produce sound patterns that are not characteristic of any language.

The brains of typically developing infants responded with a unique pattern of activation for each of these types of words. The responses for known and unknown words were markedly different. With the backward words, the children’s brains reacted as if they were hearing something totally different from the other types of words and gave a different signal, according to Kuhl, who is a professor of speech and hearing sciences. In addition, brain activity was focused in the temporal lobes of both hemispheres of the brain for each word type.

The children with autism, however, showed no difference in their responses between known and unknown words, meaning they couldn’t differentiate between them. However, their brains did react to the backwards words, and the pattern of activity was somewhat similar to that of the typically developing children. Overall brain activity in the children with autism was more diffuse and not focused in the temporal lobes, indicating more of their brains were tied up trying to understand the words.

Earlier work by Kuhl showed dramatic differences in how children 32 to 52 months of age responded to a computer-generated warbling sound and “motherese,” or baby talk, a speech form that is rich in phonemes. When given a choice by letting them turn their heads in one direction versus the other, normally developing children consistently preferred to listen to motherese, a near universal form of baby talk that is directed at infants and young children. Children with autism preferred the warble sound and chose it consistently. Youngsters with the most serious symptoms of autism had a stronger preference for the warble than did higher functioning children with autism.

Kuhl believes there is some good news for parents from these studies because there are indications that some autistic children are achieving some learning.

“One of the puzzles of autism is the variability of children with it,” she said. “We believe the highest functioning autistic children have some recognition of phonemes (the basic sounds of a language). And this new study shows autistic toddlers can differentiate between backward words, which are not characteristic of a language, and real words. So some learning has gone on.”

“To crack the speech code children must be able to distinguish phonemes, understand known words and be able to decode the word order of a sentence in English or their native language.”

Kuhl said researchers need better measures and tools such as magnetoencephalography, which is a non-invasive technology, to test and look inside the brains of children with autism.

“We’d like to know what kind of knowledge these children may have locked up in their brains. Children at the high-functioning end of the autism spectrum may have quite a bit. The first possible use of this research would be as a predictor of which children with autism might be responsive to treatment. With these tools we may be able to identify a part of the brain that is not responding, and that may suggest treatments by developing more targeted interventions.”

The National Institute of Mental Health, the National Institute on Child Health and Human Development and the Cure Autism Now Foundation supported the research.

© 2007 Newswise. All Rights Reserved.

Autism can temporarily affect younger siblings

By JUDY SIEGEL-ITZKOVICH

Younger siblings of children with autism may have delayed verbal, cognitive and motor development in their early childhood years, according to a study carried out by Hebrew University of Jerusalem and University of California at Los Angeles. HU Prof. Nurit Yirmiya and doctoral candidate Yifat Gamliel and Dr. Marian Sigman of California found that some siblings of children with autism - ranging from 14 months to 4.5 years - were diagnosed with delayed verbal, cognitive and motor development. After the age of four and a half, most of those children were able to close the gap with other children of the same age who had siblings with normal development, except for some small delays in verbal abilities.

The study has been published in the Journal of Autism and Developmental Disorders. The issue was edited by Prof. Nurit Yirmiya and Prof. Sally Ozonoff of the M.I.N.D. Institute at the University of California, Davis. They reported finding that 30 percent of children with older autistic siblings were found to have delayed development in the three areas studied, as opposed to only 5% in a group whose siblings did not suffer from autism.

The reasons for this phenomenon, says Yirmiya, can be traced to the genetic tendency of children in the former group to carry an endophenotype of autism (an hereditary characteristic normally associated with some condition but not a direct symptom of that condition). "Siblings of children with autism are likely to inherit genes that will cause a weakened expression of autistic symptoms," she explained. These can take the form of delayed linguistic abilities, difficulties in expressing feelings and making eye contact, and in social interaction.

Yirmiya continued that such problems cannot be traced to an imitation of the older sibling with autism. "The children examined had other models that they could have imitated, such as parents, friends or other [normal] siblings in the family with whom they had frequent contact," she asserted.

The research tested 39 Israeli children who had older siblings with autism. The research also involved a comparison group with older siblings of normal development. The children in both groups were examined at four months, 14 months, 24 months, 36 months and 54 months.

The results showed that there were no significant differences between the two groups at the age of four months. Most of the developmental delays were found in the first group from the age of 14 months until the age of four and half. After that, most of those in the group who had siblings with autism were able to close the gap between them and children in the comparison group, with the exception of a few children who persisted with some difficulties in verbal expression.

Yirmiya said follow-up work should be undertaken into the elemental school years in order to determine whether there are symptoms such as learning difficulties, since these sometimes surface at a later age. She stressed that while the research does illustrate some developmental problems with siblings of children with autism, to a large extent these problems resolve themselves at a young age. Therefore, it is not clear whether prevention programs should be recommended for such children, especially considering the burden that the families are already experiencing.

INNOVATIVE CENTER FOR BLIND-DEAF

It's hard enough to be blind; being blind and deaf is much more difficult. Now the country's only learning center for the deaf-blind has joined the prestigious international Karten Network of centers for adults with disabilities, which is based in England, Scotland and Wales. The network aims at improving the quality of life and independence level of disabled adults with a supportive learning environment that uses state-of-the-art computer technology.

The new Karten Computer-Aided Training, Education and Communication Center (CTEC) for People with Deaf-Blindness is located at Tel Aviv's Center for Deaf-Blind Persons in the Helen Keller House is already helping 15 young adults learn communication, life and vocational skills. The Center for Deaf-Blind Persons, established in 1989 by the Beth David Institute, is the only Israeli organization that develops and provides comprehensive educational, rehabilitation and social services for this population.

The most common cause of deaf-blindness here is Usher Syndrome, a genetic condition affecting an estimated 1,000 Israelis. Victims are born with hearing loss as well as retinitis pigmentosa, a progressive and degenerative eye disease. Students at the learning center range in age from 20 to 50. These years are considered a window of opportunity for individuals with Usher Syndrome, a time when they retain enough residual vision to prepare for total blindness. Several of the center's staff members have Usher Syndrome themselves - a fact which helps them empathize with the students and set an example of success.

The vision-hearing impaired need services and programs specifically designed to meet their needs. The learning center uses modern technology to teach the deaf-blind to read files via a Braille display or enlarged text, use e-mail and communicate via MSN messenger. Daily life skills include solutions to such mundane problems as how to get help in a store and how to use the bank, thereby gaining independent control of one's finances. These skills are taught in one-on-one sessions, and can make the difference between isolation and dependence and an independent life.

Leah, a 50-year-old from a poor neighborhood in Tel Aviv, is both deaf and severely visually impaired from Usher Syndrome. For years, she had used tactile sign language to communicate with friends and family, including her five children. Several months ago, despite her low self-esteem and poor reading and writing skills, she was persuaded to try using a computer at the new learning center. Since then, her progress has been remarkable. For the first time, Leah can communicate independently with her friends, make doctor's appointments and carry out other activities that most adults take for granted.

A generous donation from the Ian Karten Charitable Trust covered most of the necessary equipment and renovations, and paved the way for the enlarged Tel Aviv learning center to join the Karten CTEC Network. The new facility also has the support of the Ministry of Welfare and Social Services. Dr. Shlomo Elyashar, head of the ministry's rehabilitation division, says the Karten center will greatly advance rehabilitation and education for the hearing and visually disabled.

Name Test is Early Warning Sign of Autism

Children who do not respond to their name by age one are more likely to have a developmental abnormality -- perhaps even autism, a new study revealed.

Researchers studied 101 children aged one, whose older siblings had autism and who were therefore considered at risk. They gave the babies a simple name test, whereby a researcher stood behind the child and called out its name in a normal voice. They compared the result to 46 infants of the same age who were not believed to be at high risk:

• At age 1 year, all infants in the low-risk group responded to their name on the first or second call
• In contrast, 14% of the at-risk kids failed to respond, even after a second call.

The study marks a big step forward as evidence now shows that autism can be far less severe in kids who get early treatment. The condition is usually not diagnosed until age 3 or 4.

“The really exciting thing is that by beginning early we are able to prevent the full-blown autism syndrome," said author Dr Geraldine Dawson. "If we can work with a baby at the time those brain systems are developing, we think they will be much more responsive to treatment."

The researchers however warn that this test can by no means identify all children who will experience developmental problems; conversely, not all children who test positive will fail to develop normally.

The study was published in Archives of Pediatrics & Adolescent Medicine, April 2007.

Fragile X, Down Syndromes Linked to Faulty Brain Communication, Stanford Researcher Finds

Apr 10 2007, 5:00 PM EST

Business Wire

The two most prevalent forms of genetic mental retardation, Fragile X and Down syndromes, may share a common cause, according to researchers at Stanford University School of Medicine. The problem, a crippled communication network in the brain, may also be associated with autism.

Although the genetics of the disorders are very different, the end result for the brain seems to be the same, said Daniel Madison, PhD, associate professor of molecular and cellular physiology. "It's as if you had every light in your house wired to just one or two switches, rather than having many switches that can be flipped on or off in complex combinations to control the lighting in one room," he said.

Madison is the senior author of a paper on Fragile X syndrome in mice, which will be published in the April 11 issue of the Journal of Neuroscience. He published a related study on mice with Down syndrome symptoms in the Feb. 15 issue of the Journal of Physiology.

Madison is a member of Stanford's Down Syndrome Research Center, started in 2003 by researchers at the School of Medicine and Lucile Packard Children's Hospital to accelerate the application of research to effective treatments for the condition.

In the latest study, Madison and postdoctoral scholar Jesse Hanson, PhD, studied Fragile X syndrome, which is a leading cause of mental retardation in this country. Affected people tend to have learning disabilities, distinct physical characteristics such as enlarged ears and a long face, and such behavioral problems as attention deficit disorder, speech disturbances and unusual responses to various sights or sounds. Although it's not known why, about one-third of people with Fragile X also develop autism--a much higher percentage than in the general population. This makes Fragile X, which can be studied in mice, the only genetic model for autism.

As the syndrome's name suggests, the responsible gene, called Fmr1, is located on the X chromosome. Because boys have only one X chromosome while girls have two, boys are usually more severely affected when Fmr1 is mutated. Girls are not immune to the condition, however. A phenomenon called X-inactivation, which randomly silences one member of every X chromosome pair, creates a mosaic of affected and unaffected nerve cells in the brain.

In some conditions linked to the X chromosome, such as hemophilia, the normal cells can cover for their useless peers. Not so for an elite corps of brain neurons. Here, where cooperation and communication are key, a few deadbeats in the mix can be disastrous.

The researchers' discovery of the muddled communication networks in the brain hinged on two advances. One was their creation of an Fmr1 mosaic mouse with brain characteristics similar to those of people with Fragile X. The other was the use of specialized microscopes and tiny needles to eavesdrop directly on individual conversations between two cells. Before this study, investigators relied on a strain of mice in which every cell carried a mutated Fmr1 gene, and they inferred how cells communicated by results from experiments on groups of cells.

The new approach allowed Madison's team to see that cells with a mutated Fmr1 gene have a very selective flaw: they are less likely than normal cells to reach out and form connections, or synapses, with their neighbors. Although normal cells in the mosaic brain can reroute around these potential dead ends, the resulting neural network has fewer cells and is less complex. "If, for example, 10 percent of normal nerve cells are now responsible for half your neural network, the information-carrying capacity of your brain goes down," he said.

Madison said the findings from this study point researchers in a new direction. "Until now the emphasis in the field has been on the receiving, or post-synaptic, side of the synapse," he said. "But these results unequivocally show that the pre-synaptic cells are the important ones in this defect."

The result paralleled the researchers' earlier finding in the brains of the mice with Down syndrome symptoms: more connections are made by fewer cells. "We believe that these reduced-complexity networks are the basis for the mental retardation that occurs with both syndromes," Madison said.

If so, the problem is rooted in early development. Synapse formation appears at first to be completely disordered, with connections between neurons making random paths like hairline cracks racing across a breaking sheet of ice. But as the person or animal begins to learn and remember, the more well-trodden paths, or cracks, connect in purposeful, yet unique ways.

"No two nerve cells will always be connected in the same way in different people," said Madison. "But populations of cells will develop similar connections as the developing brain practices using its own network. If we can compensate for the synaptic deficiency of the mutant cells, we may begin to start to think about ways to increase the mental capacity of patients with Down syndrome or Fragile X."

The study was funded by the National Institutes of Mental Health and Stanford's Down Syndrome Research Center.

Stanford University Medical Center integrates research, medical education and patient care at its three institutions -- Stanford University School of Medicine, Stanford Hospital & Clinics and Lucile Packard Children's Hospital at Stanford. For more information, please visit the Web site of the medical center's Office of Communication & Public Affairs at http://mednews.stanford.edu.