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Research by Topic: Diagnosis
Autism Science Foundation Comments on Today’s CDC Data Indicating 1 in 44 Children Diagnosed with AutismPublished December 2, 2021
These new data underscore the importance of early autism screening and intervention for better long-term outcomes for people with autism NEW YORK — December 2, 2021 — The Centers for Disease Control and Prevention (CDC) today announced that 1 in 44 eight-year-old children and 1 in 59 four-year-old children are diagnosed with autism. This is an […]
This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families. What it did not do was calculate the role of gene x environment interactions which seems to […]
This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families. What it did not do was calculate the role of gene x environment interactions which seems to […]
Lots of news outlets have great summaries of things that were presented at the International Society for Autism Research. However, one area was relatively missed: technology. This week’s podcast summarizes advances in technology for people with autism, how they are being used, what they could be used for and how they will improve services […]
Parents have choices of dozens of different autism interventions, available in private and public settings. A new study explores factors which influence parents decisions on different interventions, how they are similar to each other and different. They include cognitive ability of their kids with ASD and economic resources. Parents in the US may have similarities […]
This week is focused on what happens in schools, including classification, service receipt and new interventions. How an educational classification translates to a clinical diagnosis, how and what factors are important in receiving services, what teachers think about repetitive behaviors and finally, a new intervention that can be delivered by therapists in school or mental […]
Automatic emotion and attention analysis of young children at home: a ResearchKit autism feasibility studyPublished June 26, 2019 in nature
Current tools for objectively measuring young children’s observed behaviors are expensive, time-consuming, and require extensive training and professional administration. The lack of scalable, reliable, and validated tools impacts access to evidence-based knowledge and limits our capacity to collect population-level data in non-clinical settings. To address this gap, we developed mobile technology to collect videos of […]
A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum DisorderPublished June 24, 2019 in Journal of Autism and Developmental Disorders
The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. […]
People with autism have higher levels of GI problems than people without a diagnosis, and the microbiome is associated with GI function. So, is the microbiome linked to autism? Some studies say yes, but this week, studies in China look at non-caucasian people with a different diet. Do the differences still hold? Also, while GI […]
While diagnosis before 3 years of age is ideal, circumstances may not always allow the earliest identification and diagnosis. This week’s podcast explores two of the reasons why diagnosis is not always possible before age 3. One is a study from Denmark and one is from members of the Baby Siblings Research Consortium.
Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since InfancyPublished November 8, 2018
A new study from the ASF-supported Baby Siblings Research Consortium explains why a few kids with autism do not receive a formal diagnosis until 5 years or later. Read more here.
Dr. Inna Fishman from San Diego State University explains how findings from brain tissue helps scientists interpret data which studies how brain regions connect to each other and why this is important for understanding autism subgroups. Also, researchers from the Karolinska Institutet examine ADHD diagnosed in adults, and find it is similar to autism. Listen […]
Recently, Clare Harrop from University of North Carolina at Chapel Hill published two papers which help explain the differences between boys and girls with autism, at least in kids and toddlers. She graciously agreed to talk with ASF about these findings and what it means for better identification and diagnosis of girls with ASD, and […]
The Smithsonian Magazine reported on the story of the Bak family and the Autism Sisters Project, an ASF scientific initiative determined to understand the disparity of autism diagnoses between boys and girls and the potential female protective effect. Through the study of the unaffected sisters of people with autism, the goal is to build a […]
Filed under: adult outcomes, ASD, asf, Autism, Autism Science Foundation, Autism Sisters Project, Diagnosis, Diagnostic Disparities, featured, female protective effect, Genetics, research, science, Smithsonian Magazine
On this week’s podcast, diagnosis with the DSM 5. While much work needs to be done to include individual abilities and disabilities into the DSM5, after the CDC prevalence numbers were published last month, it became clear the old DSM IV was not working. In a replication of a previous finding, it showed that the […]
On this week’s podcast, two chief science officers! Dr. Alycia Halladay interviewed Dr. Thomas Frazier of Autism Speaks on what’s needed to improve clinical trials and drug intervention for autism. The two CSOs also discussed other important in ASD research, including disclosure of a diagnosis, sex differences, and some of the newest more exciting findings.
On this week’s podcast, Dr. Lori Sacrey of the University of Alberta highlights findings from a multi-site study she led that investigated how well parent report measures could predict an ASD diagnosis for at-risk infants. Plus, the journal Autism decided to move away from the puzzle piece symbol in this new era of autism research.
Scientists have studied males compared to females with autism, but rarely have there been studies about what clinicians see as differences in these two groups. Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism […]
This week two studies which examined infants and younger children that will significantly advance understanding of causes and services for people with autism were published. After a commentary about the confirmation of Betsy DeVos, the study that used a practical methodology to improve autism screening in pediatrics clinic from researchers at Duke University was presented. […]
Today we honor Dr. Martin Luther King, Jr., a man who is revered for his contributions to justice, tolerance, equality and service. In this week’s podcast, Dr. Alycia Halladay highlights a Supreme Court case which affects how those with special needs are fighting for justice and equality. Also, over the holidays, Dr. Connor Kerns from […]
ASF fellow Dr. Donna Werling reviews the evidence around why females with autism are not diagnosed as often. It includes susceptibility in males, resilience in females, hormonal influences, camoflauging and role of IQ. Read more here – it’s open access!
While still rare, there are cases where an autism diagnosis is not made until adulthood. Why have these people been missed and what do they need? How did they go for so long without anyone recognizing that they needed help? A new study from the lab of Dr. Francesca Happe in the UK investigates the […]
After the domains of social and communication were merged together under ‘social communication’ in the DSM5, understanding what makes up these symptoms is more important than ever. Researchers from Center for Autism and the Developing Brain and UCSF drilled down to distinguish different types of social communication and which were most specific to autism. Using […]
Jennifer Foss-Feig, PhD at Yale University recently received an accelerator grant to expand her research project to include individuals with autism. Why? She theorizes that the way schizophrenia is classified and conceptualized may be helpful to the diagnosis of autism spectrum disorder. She recently published these ideas and wrote a blog for the ASF. You can read it here: https://autismsciencefoundation.wordpress.com/2015/08/24/is-it-time-to-rethink-the-symptoms-of-autism-a-commentary-by-jennifer-foss-feig-phd-yale-university/
Scientists are discovering things in the brains of babies with autism before they are diagnosed. Jason Wolff, PhD explains in his blog. Interested in participating and getting free evaluations for your infant? The bottom of the blog post has information.
While stability of an autism diagnosis is high at 18 months, symptoms emerge and evolve over time and many may not be reach a diagnostic threshold until 3 years. Therefore, concerned parents need to continue screening and evaluations through 3 years of age. A new baby siblings research consortium study examined the stability of diagnosis in over 400 at-risk infants.
A new study from the Kennedy Krieger Institute in Baltimore indicates that generally girls are getting diagnosed with autism at a later age than boys, perhaps because they exhibit different and less severe symptoms. The study is based on data from the Institute’s Interactive Autism Network, an online registry of almost 50,000 individuals and their families affected by autism. In the registry, age of first diagnosis was available for 9,932 children, and 5,103 had completed the Social Responsiveness Scale, which identifies the presence and severity of social impairment.
Delays in diagnosing and treating autism often occur when doctors ignore parents’ concerns about their child’s early development, a new study suggests.A team led by Dr. Katharine Zuckerman, of Oregon Health and Science University in Portland, compared the medical records of more than 1,400 children with autism against those of 2,100 children with other forms of delayed intellectual development.
To characterize people who carry deletions in 16p11.2 and 15q13.3, genetic regions linked to autism, two studies published this summer looked in detail at dozens of people with either deletion. The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. The studies were published in the journals Biological Psychiatry and Genetics in Medicine.
A test designed to characterize natural, spontaneous language use in autism shows solid promise in its first trials in typically developing children. The results were published in the Journal of Autism and Developmental Disorders.The researchers assessed the ease of use and reliability of the test in 180 typically developing children in Michigan, ranging in age from 2 to 5 years. They confirmed that the youngest children can do the various tasks on the test and that the codes developed for the test match the skills of the oldest children. The researchers’ goal is to build a baseline of standard scores against which the scores of children with autism or other communication disorders can be compared.
At its core, autism is the same disorder worldwide. And ideally, it should be possible to identify it consistently and accurately everywhere. But most screening methods for the disorder were developed in the U.K. and U.S., and linguistic and cultural differences can affect their performance elsewhere.
The average child with autism is 18 months old before his or her parents first begin to be concerned. Given the importance of early intervention, its crucial that parents and doctors both catch on to the symptoms as soon as possible. A study published in European Child and Adolescent Psychiatry finds that two autism screens are better than one at identifying toddlers who need specialized clinical services. These screens, such as the Modified Checklist for Autism in Toddlers (M-CHAT) and the Early Screening of Autistic Traits (ESAT), are used not to diagnose autism, but rather to identify children who need more specialized attention for example, from a child psychiatrist or a behavioral therapist.
Request for Information (RFI): Impact of DSM-5 Changes to Diagnostic Criteria for Autism Spectrum Disorders (ASD) on Research and ServicesPublished April 14, 2014 in National Institutes of Health
The NIH is requesting additional input from the scientific community, health professionals, self-advocates and patient advocates about the research implications of recent changes to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) diagnostic criteria for Autism Spectrum Disorders (ASD). Responses will be accepted through May 12, 2014.
The CDC has released its 2014 Community Report on Autism, which gives details behind the new 1 in 68 number, as well as additional state-by-state prevalence information.
IACC Issues Statement Regarding Implications of Changes in the Diagnostic Criteria for Autism Spectrum DisorderPublished April 2, 2014 in Interagency Autism Coordinating Committee
Today, on World Autism Awareness Day 2014, the Interagency Autism Coordinating Committee (IACC), issued a statement regarding the implications of changes in the diagnostic criteria for ASD that were made in the most recent update of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Of particular interest are the scientific, practice, and policy implications as DSM-5 is implemented in real-world settings, especially with respect to allocation of services.
New evidence suggests that autism begins in the brain before birth when brain cells fail to develop properly. In this study, the abnormalities in the brain cells were not uniform, showing autism’s wide range of symptoms and severity. This better understanding of prenatal development of the brain cells of people with autism underscores the importance of early identification and intervention.
The risk of certain autism spectrum disorders is highest in firstborn children and declines in each additional sibling born to the same mother, reports a large Finnish study published in Paediatric and Perinatal Epidemiology. When the researchers looked at Asperger syndrome, pervasive developmental disordernot otherwise specified (PDD-NOS) and childhood autism, in which symptoms appear before the age of 3, as a group, they found that a diagnosis is most common in firstborns. The latter two conditions are now considered part of the autism diagnosis. When they looked at each diagnosis separately, the researchers found that the firstborn effect holds for Asperger and PDD-NOS, while second-born children are at the highest risk for childhood autism.
Autism is defined based on a wide variety of behavioral symptoms, but it’s precisely this variation along with a complex genetic background that makes it tricky to connect behavior to the underlying genes. A new algorithm may make this challenge a bit easier to solve. The algorithm, which employs a form of artificial intelligence that learns as it goes, analyzes behavioral data and has learned to recognize six genetic disorders associated with autism, according to research published in Molecular Autism. The researchers hope to use these behavioral signatures to hone their search for the genetic underpinnings of idiopathic autism, for which there is no known cause.
Autism researchers and advocates often express concern that the average age of autism diagnosis in the U.S. hovers around 4 years even though most cases of the disorder can be reliably identified by age 2. In this highly contentious field, the need for early diagnosis and early intervention is one of the few areas of agreement. Surprisingly, though, there has been little hard evidence that earlier diagnosis improves the lives of people with autism in the long term. At last, this evidence is becoming available. The field turned toward more rigorous studies a decade or so ago, and many of those studies, focused on children between about 2 and 4 years old, are starting to bear fruit.
Most of the children who would lose their autism diagnosis under the diagnostic criteria released last year will fall under the new category of social (pragmatic) communication disorder (SDC), reports a large study of Korean children. The study was published last week in the American Academy of Child and Adolescent Psychiatry. SCD is a condition that includes severe social and communication deficits but lacks the repetitive behaviors and restricted interests seen in autism.
One of the frustrations that parents of children with autism most commonly voice is the long wait for a diagnosis. In the meantime, the children grow up and out of the critical period for early intervention. The scenario for adults seeking an autism diagnosis is even grimmer, as there are fewer practitioners experienced in caring for adults with autism than in caring for children with the disorder. There are few comprehensive statistics about waiting times, but the bottlenecks in access to autism diagnosis and care are widely acknowledged. These concerns are spurring the medical community to take a hard look at the failings of professional training in contributing to the problem.
Pregnant women who were diagnosed with a bacterial infection during a hospital visit were more likely to have their child be diagnosed with autism spectrum disorder, a study in the Journal of Autism and Developmental Disorders reports. “Multiple maternal infections and bacterial infections occurring during late pregnancy, particularly those diagnosed in a hospital setting, were associated with a higher risk of autism,” the researchers reported.
A long-awaited study has confirmed the fears of Somali residents in Minneapolis that their children suffer from higher rates of a disabling form of autism compared with other children there. The study by the University of Minnesota, the Centers for Disease Control and Prevention, and the research and advocacy group Autism Speaks found high rates of autism in two populations: About one Somali child in 32 and one white child in 36 in Minneapolis were on the autism spectrum. But the Somali children were less likely than the whites to be high-functioning and more likely to have I.Q.s below 70. (The average I.Q. score is 100.) The study offered no explanation of the statistics.
Researchers at Karolinska Institutet in Sweden have developed a new screening tool to facilitate the diagnosis of Autism Spectrum Disorder in adults. The test is presented in the scientific journal Molecular Autism and is unique in that researchers have, as part of their evaluation, compared the group diagnosed with Autism Spectrum Disorder with psychiatric patients. In adults, distinguishing Autism Spectrum Disorder from other psychiatric conditions can be a problem, as their symptoms often overlap or are similar to those in schizophrenia, attention deficit and hyperactivity disorder (ADHD) or severe personality disorders.
Clinicians around the world diagnose children with autism, but is autism the same disorder around the world? A team of researchers has begun testing this question by comparing children in two European countries. The American definition of autism travels well across international borders in the case of British and Finnish children, they reported in the journal Autism. However, when the researchers compared mild traits of autism collectively referred to as broad autism phenotype, or BAP those of children from Finland do not line up well with descriptions in the DSM-5. This may be because of differences in language, culture and genetics between Finland and the U.K.
Siblings of children with autism who are later diagnosed with the disorder themselves become more active, less adaptable and less likely to approach others over time, according to a study published in the Journal of Autism and Developmental Disorders. The results reinforce the observation that autism symptoms evolve as children age, the researchers say.
A study by researchers with the UC Davis MIND Institute studied children with chromosome 22q11.2 deletion syndrome, who as a group have a prevalence of autism between 20 and 50 percent according to parent reports. This study found that these children may be getting misdiagnosed because the symptoms of the chromosome 22q11.2 deletion syndrome, including social impairments, are very similar to symptoms of autism.
A research group exploring the hypothesis that certain maternal antibodies can impair fetal brains has partnered with a company to develop a test for predicting whether a woman will have a child with autism. The antibodies, they claim, could account for up to a quarter of all autism cases. But other autism scientists are skeptical that the evidence is strong enough to make such a claim, or to consider an autism test based on the antibodies.
Latino children with autism are being diagnosed less often and later than non-minority children. This new study in Pediatrics shows that this may be due to a language barrier between doctors and patients, along with a lack of dissemination of culturally appropriate ASD materials to Latino families.
During its study, the Kennedy Krieger Institute found that 1/3 of participants who have autism were also diagnosed with ADHD. This could suggest a genetic link between the two conditions.
The study found that individuals with ASD had significantly decreased metabolism of the amino acid L-Tryptophan compared to their control group and individuals with other neurodevelopmental disorders. This amino acid could be used as a potential indicator for a simple, early blood test for autism.
Simons Foundation will host a live DSM-5 roundtable discussion on May 29 at 3pm ET. The panelists, Dr. Thomas Insel, Dr. Cathy Lord and Dr. Helen Tager-Flusberg, will explore the new guidelines’ impact on autism diagnosis as well as on research. Listeners will have a chance to ask the panelists questions during the discussion.
Ad Campaign Uses New Approach to Promote Early Autism Recognition in African-American and Hispanic FamiliesPublished May 20, 2013 in The New York Times
With the release of the DSM-5 comes an updated definition of autism and a major change to the way it is diagnosed.
The editors of Molecular Autism, Dr. Simon Baron-Cohen and ASF SAB member Dr. Joe Buxbaum, invited the labs of Dr. Cathy Lord and Dr. Fred Volkmar to offer their perspectives on the new DSM-5 criteria for the autism spectrum.Read Dr. Lord’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-12.pdfRead Dr. Volkmar’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-13.pdf
A study in the Journal of the American Academy of Child and Adolescent Psychiatry analyzes the changes made to the DSM-5 in regards to autism symptom structure in toddlers with ASD. The DSM-5 model was found to be a superior fit to the data than other models used during toddler assessment.
Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for AutismPublished April 25, 2013 in Biological Psychiatry
Researchers at the Yale School of Medicine have figured out how to measure an infant’s risk of developing autism by looking for abnormalities in his/her placenta at birth, allowing for earlier diagnosis and treatment for the developmental disorder.
Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 20112012Published March 20, 2013 in CDC
This report presents data on the prevalence of diagnosed autism spectrum disorder (ASD) as reported by parents of school-aged children (ages 617 years) in 20112012. Results suggest 1 in 50 U.S. children is diagnosed with ASD based on parent report.
With the number of people seeking ASD evaluations in adulthood on the rise, researchers sought to investigate how DSM-5 criteria would fare in a diagnostic clinic for adults with minimal intellectual disability. Compared to ICD-10R and DSM-IV-TR, DSM-5 specificity was good but sensitivity was poor: 44% of adults who met ICD-10R ASD criteria and 22% who met DSM-IV-TR criteria for Asperger syndrome or autistic disorder would not qualify for a DSM-5 ASD diagnosis.
In effort to stimulate more research to better understand ASD trends, ASF President Alison Singer and other stakeholders discuss the increase in ASD prevalence and share their knowledge and opinions.
Researchers at Virginia Tech examine M-CHAT performance in a very low socio-economic status setting and find it lacks internal consistency across ethnic and educational groups. Caregivers who reported a low maternal educational level or with minority status were more likely to mark items suggestive of autism compared to those with higher maternal education or non-minority status
The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, according to this study led by an ASF Grantee. Certain diagnostic features, including poor nonverbal communication and repetitive behaviors, were associated with earlier identification of an autism spectrum disorder. Displaying more behavioral features was also associated with earlier diagnosis.For more information about this study, read the guest blog from the lead author here: http://autismsciencefoundation.wordpress.com/2013/04/09/identifying-asd-in-community-settings/
Researchers found that estimates of the number of children with ASD might be lower using the current DSM-5 criteria than using the previous criteria. This study looked at information collected by CDCs Autism and Developmental Disabilities Monitoring (ADDM) Network. This is the first population-based study in the United States to look at what effect the updated ASD criteria in the DSM-5 might have on estimates of the number of children with ASD. One of the advantages of the ADDM Network method is that it does not rely solely on the presence of an ASD diagnosis, but also includes review of records for children who have behaviors consistent with ASDs, even if they do not have a diagnosis. Because of the way the ADDM Network collects data, in the future CDC will be able to use both the previous DSM-IV-TR and the current DSM-5 criteria to estimate the number of children with ASD. CDC will also continue to evaluate the effect of using the DSM-5 on trends in how doctors and other health professionals diagnose ASD and how service providers evaluate and document symptoms as they transition to using the new criteria.
Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic StudyPublished January 1, 2013 in Journal of Autism and Developmental Disorders
According to this study, DSM-IV-TR criteria capture more individuals with ASD and intellectual disability than DSM III criteria. The authors examined records from a statewide epidemiological study in the 80s and found that 59% of participants who were considered not autistic in the original study likely were autistic based on current DSM criteria and clinician review methods used in CDC studies.
Researchers at Boston’s Children Hospital claim a new blood test outperforms existing genetic tests for diagnosing ASD.
Autism Science Foundation President Alison Singer discusses DSM-V changes.
This study estimated the ASD prevalence in a psychiatric hospital and evaluated the Social Responsiveness Scale (SRS) combined with other information for differential diagnosis. Undiagnosed ASD may be common in psychiatric hospitals. The SRS, combined with other information, may discriminate well between ASD and other disorders.
This review by Catherine Lord and Rebecca Jones looks at common tools and best practices for ASD diagnosis in research settings.
Sponsored in part by ASF, the new Nature Outlook supplement on autism features articles on genetics, adulthood, brain imaging, diagnosis and more.
DSM-5 Field Trials in the United States and Canada, Part II: Test-Retest Reliability of Selected Categorical DiagnosesPublished October 30, 2012 in American Journal of Psychiatry
“OBJECTIVE The DSM-5 Field Trials were designed to obtain precise (standard error <0.1) estimates of the intraclass kappa as a measure of the degree to which two clinicians could independently agree on the presence or absence of selected DSM-5 diagnoses when the same patient was interviewed on separate occasions, in clinical settings, and evaluated with usual clinical interview methods.”
Autism and ADHD diagnoses will no longer be mutually exclusive under proposed DSM-5 guidelines. Clinicians will be permitted to make official dual diagnoses when necessary.
Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental DisordersPublished October 1, 2012 in The American Journal of Psychiatry
Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.
Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children with DSM-IV Diagnoses of Pervasive Developmental DisordersPublished October 1, 2012 in The American Journal of Psychiatry
“OBJECTIVE: Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.CONCLUSIONS: These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger’s disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.”
With the impending release of DSM-5, this article reviews proposed changes related to ASD diagnosis and discusses possible implications of DSM-5 changes on autism treatment and research.
Autism spectrum disorders (ASD) are a genetically and phenotypically heterogeneous group of syndromes defined by fundamental impairments in social reciprocity and language development accompanied by highly restrictive interests and/or repetitive behaviors. Recent advances in genetics, genomics, developmental neurobiology, systems biology, monogenic neurodevelopment syndromes, and induced pluripotent stem cells (iPSC) are now offering remarkable insights into their etiologies and converging to provide a clear and immediate path forward from the bench to the bedside.
“The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. “
“We have followed up a 2002 population study of autism prevalence in 15-24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were-in addition to 43 originally diagnosed cases in 2002-24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7-16) years, but considerable variability as regards diagnostic sub-groupings.”
“OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.”
Researchers at the St. Joseph’s Hospital and Medical Center of Phoenix are looking into whether anatomy of the bronchi of lower lungs airways indicates autism.
“The First Year Inventory is a parent-report measure designed to identify 12-month-old infants at risk for autism spectrum disorder. First Year Inventory taps behaviors that indicate risk in the developmental domains of sensory-regulatory and social-communication functioning. This longitudinal study is a follow-up of 699 children at 3 years of age from a community sample whose parents completed the First Year Inventory when their children were 12 months old. Parents of all 699 children completed the Social Responsiveness Scale-Preschool version and the Developmental Concerns Questionnaire to determine age 3 developmental outcomes. In addition, children deemed at risk for autism spectrum disorder based on liberal cut points on the First Year Inventory, Social Responsiveness Scale-Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations. We found 9 children who had a confirmed diagnosis of autism spectrum disorder from the sample of 699. Receiver operating characteristic analyses determined that a two-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had autism spectrum disorder and 85% had a developmental disability or concern by age 3. These results suggest that the First Year Inventory is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of autism spectrum disorder.”
How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders?Published August 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry
A study finds that despite showing similar autistic traits, girls are less likely than boys to meet diagnostic criteria for ASD if no other intellectual or behavioral issues are present. The authors suggest the results might reflect biased diagnosis or better adaptation in girls.
According to researchers at the University of North Carolina School of Medicine, a new parent evaluation tool may help identify children with ASDs as early as 12 months.
A brain imaging study out of Boston Children’s Hospital suggests that autism and Asperger’s syndrome are biologically distinct conditions. The study analyzes the patterns of brain connectivity in children with ASD and found that children with autism might have distinct neural signaling patterns. This study follows the release of the APA’s new DSM-5 that classifies Asperger’s under an umbrella diagnosis of ASD.News Article: http://www.medicaldaily.com/aspergers-syndrome-and-autism-are-biologically-distinct-according-new-brain-study-video-249255
Researchers at Children’s Hospital Boston Identify Brain Activity Patterns Specific to Children with AutismPublished June 26, 2012 in Time
Study from Children’s Hospital Boston uses EEG to identify specific brain activity patterns in children with autism.
“Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.”
New study by Dr. Rebecca Landa of the Kennedy Krieger Institute suggests that “head lag” test might help diagnose autism.
Researchers today also say they’re beginning to make progress, perhaps for the first time, in understanding the autistic brain.
Evidence shows an increased number of autism diagnoses. There is the possibility that the increase in cases is entirely the result of better detection. Scientists must work to uncover the truth.
A new study in the journal Pediatrics suggests that moms who are obese or have diabetes are more likely to have a child with autism or another developmental problem.
For many families, the quest for the causes of autism has grown more urgent with the news that the estimated prevalence of the condition grew by 23% from 2006 to 2008, a Centers for Disease Control and Prevention report said last week.
On April 2, in honor of the fifth annual World Autism Awareness Day and HHS Autism Awareness Month the IACC has released its annual list of scientific advances that represent significant progress in the field.
“CONCLUSIONS: Proposed DSM-5 criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research.”
From Autism Science Foundation(March 29, 2012New York) The Centers for Disease Control in Atlanta today reported that 1 in 88 children (1 in 48 boys) is diagnosed with an autism spectrum disorder (ASD). Previous reports had pegged the number at 1 in 110.
Prevalence of Autism Spectrum Disorders Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008Published March 29, 2012 in MMWR (CDC)
Full text of today’s CDC report indicating 1 in 88 children is now diagnosed with an autism spectrum disorder.
The Centers for Disease Control in Atlanta today reported that 1 in 88 children (1 in 54 boys) is diagnosed with an autism spectrum disorder (ASD). Previous reports had pegged the number at 1 in 110.
When compared to non-Hispanic white children, Hispanic youth are more likely to go undiagnosed for developmental issues and autism, says a study from UC Davis MIND Institute.
“OBJECTIVE: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites.CONCLUSION: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function.”
Early diagnosis is considered key for autism, but minority children tend to be diagnosed later than white children. Some new work is beginning to try to uncover why and to raise awareness of the warning signs so more parents know they can seek help even for a toddler.
The first prospective study of ethnic differences in the symptoms of autism in toddlers shows that children from a minority background have more delayed language, communication and gross motor skills than Caucasian children with the disorder. Researchers at the Kennedy Krieger Institute concluded that subtle developmental delays may be going unaddressed in minority toddlers until more severe symptoms develop.
“Autism spectrum disorders (henceforth autism) are diagnosed in around 1% of the population . Familial liability confers risk for a broad spectrum of difficulties including the broader autism phenotype (BAP) [2, 3]. There are currently no reliable predictors of autism in infancy, but characteristic behaviors emerge during the second year, enabling diagnosis after this age [4, 5]. Because indicators of brain functioning may be sensitive predictors, and atypical eye contact is characteristic of the syndrome [6-9] and the BAP [10, 11], we examined whether neural sensitivity to eye gaze during infancy is associated with later autism outcomes [12, 13]. We undertook a prospective longitudinal study of infants with and without familial risk for autism. At 6-10 months, we recorded infants’ event-related potentials (ERPs) in response to viewing faces with eye gaze directed toward versus away from the infant . Longitudinal analyses showed that characteristics of ERP components evoked in response to dynamic eye gaze shifts during infancy were associated with autism diagnosed at 36 months. ERP responses to eye gaze may help characterize developmental processes that lead to later emerging autism. Findings also elucidate the mechanisms driving the development of the social brain in infancy.”
A new study from the Infant Brain Imaging Network, which includes researchers at the Center for Autism Research at The Children’s Hospital of Philadelphia (CHOP), found significant differences in brain development starting at age 6 months in high-risk infants who later develop autism, compared to high-risk infants who did not develop autism.
Older maternal and paternal age are jointly associated with having a child with autism, according to a recently published study led by researchers at The University of Texas Health Science Center at Houston (UTHealth).
Toward Brief Red Flags for Autism Screening: The Short Autism Spectrum Quotient and the Short Quantitative Checklist for Autism in Toddlers in 1,000 Cases and 3,000 ControlsPublished February 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry
Ten items were taken from the Autism Spectrum Quotient (AQ) and the Quantitative Checklist for Autism in Toddlers (Q-CHAT) to develop brief screening tools for ASD. Researchers hope these new measures will help doctors decide whether to refer families for full diagnostic assessments.
Measuring brain activity in infants as young as six months may help to predict the future development of autism symptoms.
Results were released yesterday from the Pennsylvania Autism Needs Assessment, which includes feedback from 3,500 Pennsylvania caregivers and adults with autism, making it the largest study of its kind in the nation.
Concerns that proposed changes to autism criteria in the upcoming Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) will exclude many individuals from diagnosis and treatment are unfounded, says the American Psychiatric Association (APA).
Although the genetic basis of autism is now well established, a growing body of research also suggests that environmental factors may play a role. Using a unique study design, a new study suggests that low birth weight is an important environmental factor contributing to the risk of autism spectrum disorder (ASD).
A new technology developed by neuroscientists at Cold Spring Harbor Laboratory (CSHL) transforms the way highly detailed anatomical images can be made of whole brains.
According to the Centers for Disease Control, nearly one percent of U.S. children have some form of autism, 20 times higher than the rate in the 1980s. Alan Zarembo of The Los Angeles Times and clinical psychologist Catherine Lord discuss what’s behind the growing number of diagnoses.
As more children are diagnosed with autism, researchers are trying to find unrecognized cases of the disorder in adults. The search for the missing millions is just beginning.
A new center at the Massachusetts Institute of Technology will focus on unraveling the neuroscience behind social behaviors, helping to push forward research and, the scientists hope, to advance diagnosis and treatment of autism spectrum disorders.
Children exposed to the epilepsy drug valproate have a nearly three times higher risk of having an autism spectrum disorder, new research finds.
In the largest study of brain development in preschoolers with autism to date, a study by UC Davis MIND Institute researchers has found that 3-year-old boys with regressive autism, but not early onset autism, have larger brains than their healthy counterparts.
A new study published in the journal Archives of General Psychiatry suggests that the current gold standard of “best-estimate clinical diagnoses” for the diagnosis of autism spectrum disorders may not be the best method of diagnosis.
University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children.Published October 22, 2011 in Medical News Today
The face and brain develop in coordination, with each influencing the other, beginning in the embryo and continuing through adolescence. Now, University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children…
Having A Child With Autism Linked To Genetic Variant And Autoantibodies: Finding May Lead To Screening TestPublished October 20, 2011 in Medical News Today
A study by researchers at UC Davis has found that pregnant women with a particular gene variation are more likely to produce autoantibodies to the brains of their developing fetuses and that the children of these mothers are at greater risk of later being diagnosed with autism.
Autism is far more common in low-birth-weight babies than the general population, researchers are reporting, a significant finding that nevertheless raises more questions than it answers and illustrates how little is known about a group of disorders that affect nearly 1 percent of American children.
Autism is normally diagnosed between the ages of 2 and 3, but new research is finding symptoms of autism spectrum disorders in babies as young as 12 months.
New findings from a 16-year study confirm that the Diagnostic and Statistic Manual of Mental Disorders (DSM), the gold-standard for the classification of mental health conditions, can be used to accurately identify autism spectrum disorders (ASD) in children with Down syndrome, according to research from Kennedy Krieger Institute.
Multivariate Searchlight Classification of Structural Magnetic Resonance Imaging in Children and Adolescents with AutismPublished September 5, 2011 in Biological Psychiatry
Multiple brain regions, including those belonging to the default mode network, exhibit aberrant structural organization in children with autism. Brain-based biomarkers derived from structural magnetic resonance imaging data may contribute to identification of the neuroanatomical basis of symptom heterogeneity and to the development of targeted early interventions.
Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have used a novel method for analyzing brain-scan data to distinguish children with autism from typically developing children. Their discovery reveals that the gray matter in a network of brain regions known to affect social communication and self-related thoughts has a distinct organization in people with autism.
This study estimated the ASD prevalence in a psychiatric hospital and evaluated the Social Responsiveness Scale (SRS) combined with other information for differential diagnosis. Chart review, SRS and clinical interviews were collected for 141 patients at one hospital. Diagnosis was determined at case conference. Receiver operating characteristic (ROC) curves were used to evaluate the SRS as a screening instrument. Chi-squared Automatic Interaction Detector (CHAID) analysis estimated the role of other variables, in combination with the SRS, in separating cases and non-cases. Ten percent of the sample had ASD. More than other patients, their onset was prior to 12 years of age, they had gait problems and intellectual disability, and were less likely to have a history of criminal involvement or substance abuse. Sensitivity (0.86) and specificity (0.60) of the SRS were maximized at a score of 84. Adding age of onset
People with autism and attention deficit hyperactivity disorder (ADHD) share some of the same underlying genetic risk factors, according to a study published this month in Science Translational Medicine. This is one of the first studies to find risk variants that are common to both disorders.In searching for rare copy number variations (CNVs) deletions and duplications in genetic material in people with ADHD, the researchers found more than a dozen regions that include genes implicated in bipolar disorder, schizophrenia, intellectual disability and autism.
A long-awaited study of autism prevalence in Korea came out today in the The American Journal of Psychiatry. Results showed a much higher prevalence estimate than previously found, along with a large fraction of the autistic students previously unidentified and being educated in regular education programs.
An examination of the birth records of the more than 7 million children born in the state of California during the 1990s and early 2000s has found a clear link between the month in which a child is conceived and the risk of that child later receiving a diagnosis of autism. Among the children included in the study, those conceived during winter had a significantly greater risk of autism, the study found.
Dr Brugha, who is also a consultant psychiatrist working in the NHS with the Leicestershire Partnership NHS Trust, said none of the cases with autism found in the community survey throughout England knew that they were autistic or had received an official diagnosis of autism or asperger syndrome.
An early screening test for autism, designed to detect signs of the condition in babies as young as 1 year old, could revolutionize the care of autistic children, experts say, by getting them diagnosed and treated years earlier than usual. The checklist available online now asks parents or other caregivers about their child’s communication skills, from babbling and first words to eye contact.
While there is an increasing equality in terms of the likelihood that children from communities and families across the socioeconomic spectrum will be diagnosed with autism, a new study finds that such factors still influence the chance of an autism diagnosis, though to a much lesser extent than they did at the height of rising prevalence.
New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of AgePublished March 1, 2011 in J Autism Developmental Disorders, Kim et al.
The Autism Diagnostic Interview-Revised is a tool clinician’s use for the diagnosis of a child with an autism spectrum disorder (ASD). The diagnostic algorithms of the evaluative tool were altered to improve sensitivity and specificity compared to the previous algorithm.
A study conducted in 1998 found that autism occurred in 0.05 per cent of Norwegian children. The figures from the “Barn i Bergen” project could therefore be interpreted to mean that the incidence of autism has risen dramatically. However, Ms Posserud thinks it is important to downplay the difference in results. Her conclusion is that the rise in ASD can be explained mainly by the use of more thorough mapping methods and, consequently, that we are not seeing the emergence of an autism epidemic
For many years, behavioral testing and observation have been the only way to determine if a child is autistic, often causing distress and confusion for parents. However, now the application of the standard electroencephalogram (EEG) combined with borrowed math from chaos theory, may enable doctors to read brain wave patterns and identify levels of autism one to two years earlier with 80% accuracy.
Medical journalist recaps his struggle to determine if vaccinations caused his son to be diagnosed with Asperger’s Syndrome concluding that it would not have made the slightest bit of difference if we had refused to vaccinate when our son was small, claiming any conspiracy theories are not based on any compelling data.
This study, performed by researchers at the University of Pennsylvania, analyzed the level of gene expression in children with autism, compared with a control group. The researchers hypothesized that the variability in the pattern of the overall of gene expression levels would be associated with variability in hippocampal-dependent behaviors, which include short-term memory and spatial […]
A second child is three times more likely to be diagnosed with autism if they are born within twelve months of their siblings, compared to those born three or more years apart, researchers from the Lazarsfeld Center for the Social Sciences at Columbia University, New York revealed in the journal Pediatrics. The investigators gathered information on 660,000 second children born in California between 1992 to 2002.
This study examined the rates of autism according to maternal immigrant status and ethnic origins based on the vitamin D insufficiency hypothesis, which proposes that maternal vitamin D insufficiency during pregnancy could be associated with autism. The study provided further support to the association between maternal immigrant status and an increased risk of autism. In […]
The International Center for Autism Research and Education (ICare4autism), a New York-based charity, announced plans to create the world’s first Global Autism Center on Mt. Scopus in Israel, dedicated to catalyzing breakthrough innovation in autism research and treatment. In a ceremony at Jerusalem’s City Hall hosted by Mayor Nir Barkat, ICare4autism’s President Joshua Weinstein signed an agreement paving the way for ICare4autism to acquire the campus of Bezalel Academy of Art in 2013, and convert it into a center.
Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children. While the study is small (10 test subjects) and requires replication, it furthers previous research which has revealed hints of a mitochondrial dysfunction/autism connection. The researchers found that mitochondria from children with autism […]
Describing the Brain in Autism in Five Dimensions-Magnetic Resonance Imaging Assisted Diagnosis of Autism Spectrum Disorder Using a Multiparameter Classification ApproachPublished December 1, 2010 in Journal of Neuroscience, Ecker et al
The study tested a group of 20 high functioning adults with autism, together with 20 control adults, to determine whether MRI scans can detect autism. Using left hemisphere cortical thickness, the algorithm could achieve 90% accuracy, however the right hemisphere was worse at differentiating between the two groups. The study shows that it is feasible […]
Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, a new study by researchers at UC Davis has found. The study, published in the Journal of the American Medical Association (JAMA), found that cumulative damage and oxidative stress in mitochondria, the cell’s energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.
Researchers have uncovered a prominent genetic risk factor for autism spectrum disorders and schizophrenia is a small genomic deletion. Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant. Someone with this deletion is 13.58 times more likely to develop ASD or schizophrenia than is someone lacking this CNV. This gene mutation is also known to cause kidney disease (renal cysts and diabetes syndrome, RCAD).
A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem CellsPublished November 1, 2010 in Cell, Marchetto et al
Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a […]
Researchers at the University of Utah (U of U) are one step closer to diagnosing autism using MRI, an advance that eventually could help health care providers identify the problem much earlier in children and lead to improved treatment and outcomes for those with the disorder.
Full-term neonates with jaundice are at greatly increased risk of later being diagnosed with a disorder of psychological development, a Danish study found. Neonatal jaundice typically is caused by increased bilirubin production and inadequate liver excretory function. Recent research has suggested that even moderate bilirubin exposure in very young children can be harmful, possibly leading to impairments in their development. They found that jaundice was more common among boys, infants born preterm, infants with congenital malformations, and low-birthweight infants.
A new study, led by researchers at Washington University School of Medicine in St. Louis, found mild traits, not strong enough to provoke a diagnosis of autism, seem to be present in the siblings of affected children at significantly higher rates than seen in the general population. Siblings of children with autism have more frequent language delays and other subtle characteristics of the disorder than previously understood. Girls also may be mildly affected more often than recognized in the past.
If a boy’s X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.
An international team of scientists, led by researchers at the University of California, San Diego, has identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.
Kennedy Krieger Institute have announced new study results showing an early marker for later communication and social delays in infants at a higher-risk for autism may be infrequent gazing at other people when unprompted. The study also found that six-month-old high-risk infants demonstrated the same level of cause and effect learning skills when compared to low-risk infants of the same age.
A 15-minute brain scan identified adults with autism almost as effectively as conventional methods of diagnosis that rely on interviews with patients and their families, U.K. scientists said. The scan detected more than 90 percent of the autistic patients who had been diagnosed using intelligence tests, psychiatric interviews, physical examinations and blood tests, according to a study by Kings College London researchers.
Certain behaviors seen in infants as young as 1-month-old may be predictors of autism spectrum disorders, according to new research by scientists at the Institute for Basic Research and Developmental Disabilities, Willowbrook.At 1 month, children with the ASD diagnosis were more likely to have asymmetrical visual tracking and arm tone deficits. By 4 months, they were more attracted to higher levels of visual stimulation, much like younger infants. Between 7 and 10 months, the children with ASD showed major declines in mental and motor performance.
Study sought to describe autism spectrum disorder (ASD) population characteristics and changes in identified prevalence across 3 time periods. Children with a potential ASD were identified through records abstraction at multiple sources with clinician review based on Diagnostic and Statistical Manual (DSM-IV-TR) criteria. Multisite, population-based data from the Autism and Developmental Disabilities Monitoring (ADDM) Network […]
IntegraGen SA, a French biotechnology company dedicated to gene discovery, announced today the publication of the results of a collaborative study reporting the use of a combined analysis of multiple genetic variants in a genetic score to help identify individuals at high risk of developing autism.
Infections during infancy or childhood do not seem to raise the risk of autism, new research finds. The study found that children who were admitted to the hospital for an infectious disease, either bacterial or viral, were more likely to receive a diagnosis of autism spectrum disorder. However, children admitted to the hospital for non-infectious diseases were also more likely to be diagnosed with autism than kids who were never hospitalized, the study found.
Significant advances in the neonatal intensive care have resulted in increased survival rates of children who are born at less than 26 weeks of gestation, so termed “extremely preterm children.” Notably, however, improved survival rates have been accompanied by a higher risk for later cognitive, neuromotor, and sensory impairments in these children.
Children with autism whose social and communications skills regress around age 3 tend to have more severe autism than children who show signs of the neurodevelopmental disorder at younger ages, new research finds.
A new study by researchers at The George Washington University School of Medicine and Health Sciences’ Department of Biochemistry and Molecular Biology raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. Researchers have identified potentially removable chemical tags (called “methyl groups”) on specific genes of autistic individuals that led to gene silencing. They also observed these changes in cells derived from blood, opening the way to molecular screening for autism using a blood test.
A new study by the Kennedy Krieger Institute suggests that the long-term outcome of autism disorders is linked to when and how symptoms first appear. Surprisingly, researchers discovered children with early developmental warning signs may actually be at lower risk for poor outcomes than children with less delayed early development who experience a loss or plateau in skills.
A new discovery raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. In a new study appearing online in The FASEB Journal, scientists have identified a way to detect the disorder using blood and have discovered that drugs which affect the methylation state (“DNA tagging”) of genes could reverse autism’s effects. This type of drug is already being used in some cancer treatments.
There has been a major increase in the incidence of autism over the last twenty years. While people have differing opinions as to why this is (environment, vaccines, mother’s age, better diagnostic practice, more awareness etc.) there are still many children who have autistic traits that are never diagnosed clinically. Therefore, they do not receive the support they need through educational or health services.
Filed under: Diagnosis
The American Psychiatric Association, with its release this week of proposed revisions to its authoritative Diagnostic and Statistical Manual of Mental Disorders, is recommending that Aspergers be dropped. If this revision is adopted, the condition will be folded into the category of autism spectrum disorder, which will no longer contain any categories for distinct subtypes of autism like Aspergers and pervasive developmental disorder not otherwise specified (a category for children with some traits of autism but not enough to warrant a diagnosis).The change is welcome, because careful study of people with Aspergers has demonstrated that the diagnosis is misleading and invalid, and there are clear benefits to understanding autism as one condition that runs along a spectrum.
A study of the development of autism in infants, comparing the behavior of the siblings of children diagnosed with autism to that of babies developing normally, has found that the nascent symptoms of the condition — a lack of shared eye contact, smiling and communicative babbling — are not present at 6 months, but emerge gradually and only become apparent during the latter part of the first year of life.
Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father’s age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers. Advanced paternal age is associated with elevated autism risk only when the father is older and the mother is under 30, the study found.
The medical journal which originally published the discredited research linking autism and MMR has now issued a full retraction of the paper. The Lancet said it now accepted claims made by the researchers were “false”.
California-based studies suggest that local environmental or social factors are driving the high autism-diagnosis rates. And they conclude that childhood vaccinationswhich some people fear is a factor behind rising autismare not to blame. Otherwise, diagnoses of the disorder would be more evenly dispersed, they say.
Researchers have known for years that when one identical twin has autism, the other is also likely to be diagnosed with it – evidence that autism likely has a genetic component. Recent studies support that theory. Researchers at Kennedy Krieger Institute studied 277 pairs of twins and found that when one identical twin had the disorder, the other developed it 88 percent of the time; for fraternal twins, that figure was 31 percent.
The Childhood Autism Risk from Genetics and the Environment (CHARGE) Study enrolled children 2-5 years of age. After diagnostic evaluation, they analyzed three groups: AU/ASD, non-AU/ASD with developmental delay (DD), and population-based TD controls. Mothers were interviewed about household, medical, and dietary exposures. Blood Hg was measured by inductively coupled plasma mass spectrometry. Multiple linear […]
Nobody has been able to show consistent differences between what clinicians diagnose as Aspergers syndrome and what they diagnose as mild autistic disorder. Thus, there is a proposal to remove Aspergers syndrome from the next edition of psychiatrys diagnostic manual. But the change, if approved by the manuals editors and consultants, is likely to be controversial. The Aspergers diagnosis is used by health insurers, researchers, state agencies and schools not to mention people with the disorder, many of whom proudly call themselves Aspies.
A new study provides more proof that childhood vaccines with mercury as a preservative — no longer on the market — did not cause autism. It found that the number of autism cases continued to rise through that period even though the preservative thimerosal — nearly half of which is made of ethylmercury — was removed from most vaccines in 2001.
Scientific understanding and medical treatments for autism spectrum disorders (ASDs) have advanced significantly over the past several years, but much remains to be done, say experts from the Center for Autism Research at The Children’s Hospital of Philadelphia who recently published a scientific review of the field.
An international consortium of researchers, including three from the University of Utah, has discovered yet another genetic link to autism. Studying the genes of more than 1,000 families — including 150 from Utah — who have more than one person with the disorder, the researchers found a region on chromosome 5 that is strongly associated with autism.
About 1 in 100 8-year-old children in the U.S. have been diagnosed with autism spectrum disorder, according to U.S. Centers for Disease Control and Prevention researchers who will be releasing details of their study later this year. The rate — significantly higher than the government’s 2007 estimate of 1 in 150.
Reviewing a larger population than in any other study of its kind, the California Department of Public Health (CDPH) has found that as parents age their risk of giving birth to a child with autism increases modestly. Published in the American Journal of Epidemiology, the new CDPH study shows that for each 10-year increase in a mothers age, the risk of autism increased by about 38 percent. For each 10-year increase in a fathers age, the risk of autism increased by about 22 percent.
The federal government will provide nearly twice as much funding for autism research in the upcoming fiscal year as we had just three years ago. President Obama has made autism a focus from the first days of his presidency in hopes to counterbalance some of the new challenges Autism has created for for families, schools, and health care providers.
On Sept. 22, England’s National Health Service (NHS) released the first study of autism in the general adult population. The findings confirm the intuitive assumption: that ASD is just as common in adults as it is in children. Researchers at the University of Leicester, working with the NHS Information Center found that roughly 1 in 100 adults are on the spectrum the same rate found for children in England, Japan, Canada and, for that matter, New Jersey.
In three new studies — including one appearing in the Public Library of Science – Biology (PLoS – Biology) — UC Davis researchers provide compelling evidence of how low levels of polychlorinated biphenyls (PCBs) alter the way brain cells develop. The findings could explain at last — some 30 years after the toxic chemicals were […]
Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR] = 0.79; 95% confidence interval [CI] = 0.64, 0.96), Hispanic (OR = 0.76; CI = 0.56, 0.99), or of other race/ethnicity (OR = 0.65; CI = 0.43, 0.97) were less likely than were White children […]
Although Autism Spectrum Disorders (ASD) are generally assumed to be lifelong, we review evidence that between 3% and 25% of children reportedly lose their ASD diagnosis and enter the normal range of cognitive, adaptive and social skills. Predictors of recovery include relatively high intelligence, receptive language, verbal and motor imitation, and motor development, but not […]
Peripheral Biomarkers in Autism: Secreted Amyloid Precursor Protein-Alpha as a Probably Key Player in Early DiagnosisPublished October 15, 2008 in Inter. Journal Clinical Exp. Medicine, Bailey, Giunta, et al
Autism is a pervasive developmental disorder characterized by impairments in socialization and communication. There is currently no single molecular marker or laboratory tool capable of diagnosing autism at an early age. The purpose of this study is to explore the plausible use of peripheral biomarkers in the early diagnosis of autism via a sensitive ELISA. […]
Two strategies have been proposed for early identification of children with autism spectrum disorders (ASD): (1) using a general screening tool followed by an ASD-specific screening tool for those who screen positive on the former or (2) using an ASD-specific tool for all children. The relative yield of these two strategies has not been examined. […]
Absence of Preferential Looking to the Eyes of Approaching Adults Predicts Level of Social Disability in 2-year old toddlers with Autism Spectrum DisorderPublished August 31, 2008 in Archives of General Psychiatry, Jones, Carr, et al
Looking at the eyes of others is important in early social development and in social adaptation throughout one’s life span. Our results indicate that in 2-year-old children with autism, this behavior is already derailed, suggesting critical consequences for development but also offering a potential biomarker for quantifying syndrome manifestation at this early age.
Variation in Season of Birth in Singleton and Multiple Births Concordant for Autism Spectrum DisordersPublished March 31, 2008 in Paediatric Pernatal Epidemiology, Lee, Newschaffer
Patterns of seasonal variation in births in some neuropsychiatric conditions have been found in previous research; however, no study to date has examined these disorders for seasonal variation in singletons and multiple births separately. This study aimed to determine whether the birth date distribution for individuals with autism spectrum disorders (ASD), including singletons and multiple […]
Continuing Increases in Autism Reported to Californias Developmental Services System: Mercury in RetrogradePublished January 31, 2008 in Archives of General Psychiatry, Schechter, Grether
California Department of Developmental Services (DDS) data do not show any recent decrease in autism in California despite the exclusion of more than trace levels of thimerosal from nearly all childhood vaccines. The DDS data do not support the hypothesis that exposure to thimerosal during childhood is a primary cause of autism.