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Babies Who Don't Respond To Their Names May Be At Risk For Developmental Disorders, Including Autism

Main Category: Pediatrics News
Article Date: 08 Apr 2007 - 2:00 PDT
Year-old babies who do not respond when their name is called may be more likely to be diagnosed with an autism spectrum disorder or other developmental problem at age 2, making this simple test a potential early indicator for such conditions, according to a report in the April issue of Archives of Pediatrics & Adolescent Medicine, a theme issue on autism spectrum disorders.

Although as many as half of parents of children with autism report concerns about their child's developmental progress before the first birthday, the disorder is usually not diagnosed until age 3 or 4, according to background information in the article. "Earlier identification of autism offers the possibility of early intervention, which holds promise for improving outcomes in children with autism," the authors write. "This has motivated a growing body of research that aims to ascertain the earliest reliable indicators of autism."

Aparna S. Nadig, Ph.D., of the M.I.N.D. Institute, University of California Davis, Sacramento, and colleagues assessed the tendency of infants to respond when their names are called, which is "one of the most consistently documented behaviors in infancy that distinguishes children later diagnosed with autism from those with typical development or developmental delays," they write.

Infants whose older siblings had autism, and who were therefore at risk for autism, were compared with control infants who were not at high risk of developing the disorder. While each child sat at a table playing with a small toy, a researcher walked behind the child and called his or her name in a clear voice. If the child did not respond after 3 seconds, the name was called again up to twice. Fifty-five at-risk infants and 43 control infants completed this test at age 6 months, and 101 at-risk infants and 46 control infants were tested at age 12 months.

"At age 6 months, there was a non-significant trend for control infants to require a fewer number of calls to respond to name than infants at risk for autism," the authors write. "At age 12 months, 100 percent of the infants in the control group 'passed,' responding on the first or second name call, while 86 percent in the at-risk group did."

Forty-six at-risk infants and 25 control infants were followed up for two years; three-fourths of those who did not respond to their name at age 12 months were identified with developmental problems at age 2. A total of 89 percent of infants who did not have an autism spectrum disorder (including autism, Asperger's syndrome and related conditions all defined by deficits in language and social skills) and 94 percent of infants without any developmental delays at two years responded to their name on the first two calls at one year. Of the children who were later diagnosed with autism, half failed the test at one year, and of those who were identified as having any type of developmental delay, 39 percent failed the test.

"Thus, failure to respond to name at the well-child one-year check-up may be a useful indicator of children who would benefit from a more thorough developmental assessment," the authors write. "It will not, however, identify all children at risk for developmental problems."

"Since this task is easy to administer and score and takes few resources, it could be incorporated into well-child pediatric visits at 12 months of age," they conclude. "If a child fails to orient to name, particularly reliably over time, this child has a high likelihood of some type of developmental abnormality and should be referred for more frequent screening, comprehensive assessment and, if indicated, preventive early intervention."

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(Arch Pediatr Adolesc Med. 2007;161:378-383.)

Note: This research was funded by a grant from the National Institutes of Health. Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

Contact: Karen Finney
JAMA and Archives Journals

Combination Of Early Detection, Timely Treatment Hold Promise For Autism

Main Category: Autism News
Article Date: 07 Apr 2007 - 11:00 PDT
|Emerging genetic research may help scientists recognize children with autism at a younger and potentially treatable age, according to an editorial in the April issue of Archives of Pediatrics & Adolescent Medicine, one of the JAMA/Archives journals. The issue is devoted to studies of autism spectrum disorders.

Children and adults with autism, a chronic developmental disorder, have difficulty with social and language skills and often display repetitive behaviors, according to background information in the articles. Symptoms usually appear by age 3. Much progress has been made in understanding autism and related conditions-known collectively as autism spectrum disorders-in the past 15 years. Still, significant mystery continues to surround its risk factors and possible causes, presenting challenges to scientists working to develop effective treatments.

"As autism susceptibility genes are discovered, the hope is that such risk genes-in combination with other behavioral, electrophysiologic and magnetic resonance imaging indices-might allow for very early identification of infants at risk for autism, thus offering the opportunity to prevent the full-blown syndrome," writes Geraldine Dawson, Ph.D., of the Autism Center at the University of Washington, Seattle. "In the meantime, behavioral interventions that are appropriate for very young children with autism are becoming increasingly sophisticated and effective, at least for a substantial subgroup of children with this disorder."

"Thus, a combination of very early identification and early behavioral intervention holds promise for significantly altering the course of brain and behavioral development and outcome in individuals with autism," she continues.

The autism theme issue of the journal "highlights new approaches to the early identification and treatment of autism, and the associated financial and emotional costs to families and society," Dr. Dawson writes. Papers published in the issue find that:

* Older fathers and mothers may be at increased risk of having a child with an autism spectrum disorder

* In addition to maternal and paternal age, low birth weight, a shorter pregnancy and a period during birth when the baby does not get enough oxygen may be associated with an increased risk for autism spectrum disorders

* Yearly health care expenses for individuals with autism spectrum disorders increased 20.4 percent per patient between 2000 and 2004, from $4,965 to $5,979

* Nearly one-third of parents do not appear to comply with instructions given when their children screen positive for problems with social development

The findings of the last two studies highlight the need for improved assistance to families dealing with this condition, write David J. Schonfeld, M.D., and Patty Manning-Courtney, M.D., of the Cincinnati Children's Hospital Medical Center, Ohio, in a second editorial. "While the next decade holds much promise for a better understanding of autism etiology and treatment, there is much to be done today at every level of health care and throughout our society to identify children with autism spectrum disorders early in their development so that we can provide ready access to needed services and support for their families," they conclude.

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(Arch Pediatr Adolesc Med. 2007;161:411-412, 334-340, 326-333, 350-355, 363-368, 412-413.)

Please see the articles for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

Contact: Joel Schwarz
JAMA and Archives Journals

As Many As 1 In 150 American Children Could Have An Autism Spectrum Disorder

Main Category: Autism News
Article Date: 09 Feb 2007 - 0:00 PST

The US Centers for Disease Control and Prevention (CDC) assess the prevalence of Autism Spectrum Disorders (ASDs) in 14 communities throughout the States at 1 in 150 children. And in the majority of cases the signs are picked up before the children reach the age of 3.

The two studies that led to this finding are published in the CDC's Morbidity and Mortality Weekly Report (MMWR).

"Our estimates are becoming better and more consistent, though we can't yet tell if there is a true increase in ASDs or if the changes are the result of our better studies," said CDC Director Dr. Julie Gerberding. "We do know, however, that these disorders are affecting too many children."

The two studies, one from 2000 data and the other from 2002 data are the first and largest summary of prevalence data from multiple US communities taking part in an autism spectrum disorder (ASD) surveillance project. Their findings show that in the year 2000, an average of 6.7 of 8-year olds out of 1,000 had an ASD in 6 communities, and in 2002 this figure was 6.6 of 8-year olds out of 1,000 in 14 communities.

Overall, the two sets of figures translate to an average finding of approximately 1 in 150 of 8-year olds having an ASD in these communities. In the year 2000 for 6 communities the rates ranged from 1 in 222 to 1 in 101 children. And the figures for the year 2002 range from 1 in 303 to 1 in 94 in 14 communities.

The CDC stress that these figures do not constitute a national estimate, but they do confirm that ASDs are more prevalent in the areas surveyed than previously thought.

They counted 8-year olds because this is the age by which most children with ASD have been identified for receipt of services.

These findings are consistent with the upper ranges estimated in other studies.

Studies from other countries using current diagnostic criteria with a range of methods have shown a range of ASD prevalence of between 1 in 500 and 1 in 166 children.

Dr Marshalyn Yeargin-Allsopp, chief of CDC's autism program said that it was extremely difficult to make accurate estimates of ASD prevalence in children, "Medical records often do not provide such information, and identification is often made by schools or education specialists," she said. And she added that the data in these reports, which has been provided by the Autism and Development Disabilities Monitoring (ADDM) Network, "was designed to provide more consistent and reliable estimates."

The surveys also looked at when the signs of ASDs had first been noticed by parents and others in the early stages of the children's development. They found that documented concerns existed for between 51 and 88 per cent of children with ASDs before they had reached 3 years of age and that 50 per cent of children had been diagnosed between 6 months before and 6 months after their 5th birthday.

The concerns that had been most commonly expressed and written down were about language development, followed by social development.

"It is important for parents, health care professionals and childcare providers to recognize developmental milestones such as smiling, pointing and waving bye-bye," said Dr Yeargin-Allsopp. "It's also important that health care professionals give children routine developmental and autism-specific screenings," she added. She also said the causes of ASD are still unknown, but early detection and diagnosis is the best way to ensure children receive the appropriate support.

Autism Spectrum Disorders (ASDs) are disabilities of development characterised by impairments in social ability, language and communication and unusual or repetitive behaviour. ASDs can be diagnosed at 18 months. The condition lasts for the whole of a person's life. ASDs include autistic disorder, pervasive development disorder - not otherwise specified (PDD-NOS), including atypical autism, and Asperger Syndrome (AS).

The CDC's Centers for Autism and Development Disabilities Research and Epidemiology (CADDRE) Network is doing a multi-state study to find out what puts children at risk for ASDs and other developmental disabilities.

The CDC has also launched a public awareness campaign titled "Learn the Signs. Act Early" to help parents and educators track the emotional and social development of children and spot any early signs of ASD.

"Prevalence of Autism Spectrum Disorders --- Autism and Developmental Disabilities Monitoring Network, Six Sites, United States, 2000."
Catherine Rice et al. (CDC).
MMWR CDC Surveillance Summaries, February 9, 2007, Vol. 56, No. SS-1

Tiny Genetic Variations Raise Autism Risk

Main Category: Autism News
Article Date: 18 Feb 2007 - 13:00 PST
 
According to international research involving 19 countries, 120 scientists and 50 institutions, tiny variations in genes may increase the risk for autism spectrum disorders (ASD). The Autism Genome Project (AGP) Consortium's report can be seen in the journal Nature Genetics, February 18th issue.

The AGP's aim is to identify specific genes and variants that might raise vulnerability to autism. This includes looking into the how genes interact with other genes, as well as other factors, such as the environment. The scientists are also looking into how potential susceptibility genes may work in the brain to bring about ASD.

NIH Director Elias A. Zerhouni, M.D., said "This is the most ambitious effort yet to find the locations of genes that may confer vulnerability to autism. The AGP is revealing clues that will likely influence the direction of autism research for years to come."

Dr. Bernie Devlin, University of Pittsburgh Medical School , one of the corresponding authors on the project, said "Although we know autism is highly heritable, complex gene interactions and submicroscopic anomalies create a din of statistical noise that drowns out detection of signals from linked sites in the genome. To amplify these signals, we brought to bear gene chip technology with a huge sample, and also screened for these fine-level anomalies, factoring them into the analysis."

The scientists say there are now clues that implicate components of the brain's glutamate neurotransmitter system in ASD. Glutamate is crucial in wiring up the brain early on in its development - glutamate enhances neuronal activity. Some genes that are associated with the glutamate system are located in chromosome regions that are linked to ASD, say the scientists.

New evidence has also emerged linking autism and gene sites for neurexins. Neurexins are molecules that construct glutamate synapses - through which brain cells communicate.

A site on chromosome 11 most strongly linked to autism in this study harbors genes for proteins that shuttle glutamate across the synapse. Although detected previously, the linkage signal at this site was regarded as less important until now.

Submicroscopic anomalies - tiny deletions, or the doubling, tripling or even multiplying of stretches of genetic material - are relatively common in the human genome and aren't necessarily harmful. However, recent evidence suggests that these anomalies may contribute to risk for - or rarely even cause - autism if they affect certain sites associated with the disorder. The AGP researchers found a number of these variations in such suspect chromosomal locations in affected individuals, including deletion of a neurexin gene.

New Protein Implicated In Autism

Main Category: Autism News
Article Date: 27 Mar 2007 - 15:00 PDT

Autism is a common neurodevelopmental disorder characterized by severely impaired social, communicative, and behavioral functions. It is thought that genetic make-up predisposes an individual to autism, and several genes have been associated with the development of autism. Although a region of human chromosome 7 has been identified to be associated with susceptibility to autism, none of the genes in this region had been directly implicated in the disorder until researchers from the RIKEN Brain Science Institute in Japan demonstrated that mice lacking the protein CADPS2 exhibited autistic-like characteristics.

In the study, which appears online in advance of publication in the April print issue of the Journal of Clinical Investigation, Teiichi Furuichi and colleagues show that mice lacking CADPS2, which is encoded by a gene in the autism susceptibility region of human chromosome 7, had impaired social interactions (when pairs of CADPS2-deficient mice that had never met were placed together they interacted substantially less frequently than pairs of wild-type mice that had never met), hyperactivity, and decreased exploration of a new environment; all of which are characteristics of individuals with autism. Importantly, an abnormal form of CADPS2 mRNA (which is an intermediate in the conversion of the CADPS2 gene to CADPS2 protein) was detected in some individuals with autism and was never detected in their healthy immediate relatives, leading to the suggestion that defects in CADPS2 function might predispose individuals to develop autism.

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TITLE: Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients

AUTHOR CONTACT:
Teiichi Furuichi
RIKEN Brain Science Institute, Wako, Saitama, Japan.

Contact: Karen Honey
Journal of Clinical Investigation