Summary of Advances in Autism Spectrum Disorder Research: Calendar Year 2009
Each year the members of the Interagency Autism Coordinating Committee identify recent research findings that made the most impact on the field. For the 2009 Summary of Advances, the IACC selected and summarized 20 studies that gave significant insight into the prevalence of autism spectrum disorder, the biology of the disorder, potential risk factors, and possible interventions. These articles were the top selections from a pool of 63 peer-reviewed articles published in 2009 that were nominated by the committee to reflect the most important work in biomedical and services research for ASD during the year – work that is critical to understanding the disorder and addressing the needs of people with ASD and their families.
Articles appear in alphabetical order by first author. A full listing of articles cited is included in the summary.
Articles Selected for the Summary of Advances
Medication and parent training in children with pervasive developmental disorders and serious behavior problems: results from a randomized clinical trial
Aman, et al. Journal of the American Academy of Child & Adolescent Psychiatry. December 2009.
Training parents to use behavior management techniques, in combination with medication, reduces serious behavioral problems in children with ASD and related disorders when compared to medication use alone. Researchers randomly assigned 124 children, ages 4 to 13, into two groups – both groups received the antipsychotic risperidone, but in one group, parents received a structured training program teaching them to manage their children's severely disruptive and noncompliant behavior. Risperidone has been shown to reduce tantrums, aggression, and self-injury in children with autism; however, the drug can have side effects like significant weight gain and related health problems. The results of the study showed that while both groups of children improved over the six-month trial, the children whose parents had also received training (over an average of 11 sessions) showed a greater decrease in behavioral problems. These children were also taking a lower dose of risperidone at the end of the trial than the children being treated solely with medication (1.98 mg vs. 2.26 mg/daily). The authors noted that the benefits of actively engaging parents in treatment seemed to increase over time, further supporting the power of parent training. Future studies will evaluate whether the benefits of parent training continue into the future and whether younger children benefit as well. Based on the positive findings of this study, it may be beneficial to provide parent training through schools and community clinics.
Association of family history of autoimmune diseases and autism spectrum disorders
Atladóttir, et al. Pediatrics. August 2009.
Mothers with rheumatoid arthritis or celiac disease, both classified as autoimmune disorders, are more likely to have children with ASD, based on a study of about 690,000 Danish children. Children with a family history of type 1 diabetes, another autoimmune disorder, are also more likely to have autism that is recognized in infancy. Researchers confirmed the results of earlier studies showing that family autoimmune disorders – disorders caused by an abnormal immune response against the body's own cells – are linked to autism risk. While maternal rheumatoid arthritis and family history of type 1 diabetes were both known autism risk factors, the association between celiac disease and ASD was a new finding. Researchers looked at all children born in Denmark between 1993 and 2004 and identified children with an ASD diagnosis using the Danish National Psychiatric Registry. They then assessed the rate and type of autoimmune disorders found in the children's immediate family. To explain their findings, the authors hypothesize that the genes involved in autoimmune disorders may also contribute to ASD. There is also evidence that women with rheumatoid arthritis may produce antibodies during pregnancy that affect fetal brain development. Further research is necessary to explore these hypotheses.
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
Bucan, et al. PLoS Genetics. June 2009.
A study of more than 900 families with multiple cases of ASD revealed new autism risk genes and adds to what is known about the genetics of autism. The researchers identified 150 rare genetic variants found in two or more unrelated people with ASD, but not in typically developing individuals. Twenty-seven of these variants were also found in a separate group of people with ASD. These submicroscopic deletions and insertions of DNA, called copy number variants (CNV), were noted in genes that have been identified in other studies, such as neurexin 1 (NRXN1), which encodes a synaptic protein, and genes in the 15q11-q13 region of chromosome 15, including UBE3A, which encodes a ubiquitin-related enzyme. The study also implicated new genes, such as BZRAP1 (benzodiazepine receptor peripheral associated protein), which is involved in regulating the transmission of nerve impulses across the synapse. The researchers additionally noted finding abnormalities in a novel gene called MDGA2 gene in people with ASD (MAM domain containing glycosylphosphatidylinositol anchor 2), which is similar to another neuronal gene that has been implicated in mental retardation and autism. Overall, several of the genes identified produce proteins that allow the synapse – the junction through which neurons communicate – to function. Hundreds of rare genetic variants appeared only once in the study, underscoring the complexity of the genetics involved in ASD. However, greater understanding of the genetics underlying ASD could eventually lead to therapeutics that target specific genes and their pathways.
Prevalence of autism spectrum disorders – Autism and Developmental Disabilities Monitoring Network, United States, 2006
Centers for Disease Control and Prevention. Morbidity and Mortality Weekly Report (MMWR) Surveillance Summaries. December 2009.
About one percent of 8-year-olds in the United States have an autism spectrum disorder, according to a CDC study of children in 2006 that was released in December 2009. This is a 57 percent increase from the rate of 1 in 150 children found in 2002 using the same research methods, although it is unclear how much of the increase results from better diagnosis and increased awareness. Similar to previous studies, boys were four times as likely to be affected as girls, with 1 in 70 boys receiving a diagnosis. Black or Hispanic children were less likely to have ASD than their white peers, but more research is needed to determine how much of the disparity may result from lower rates of diagnosis in these communities rather than lower rates of autism itself. Investigators analyzed the available medical records and school records of about 300,000 children across the U.S. at 11 sites in the Autism and Developmental Disabilities Monitoring Network. ASD rates ranged across the sites between a high of 1 in 80 children in Arizona and Missouri to a low of 1 in 240 children in Florida. The study also showed that while children are being diagnosed slightly earlier than in 2002, the majority of children are not diagnosed until 31/2 to 5 years of age – a significant delay considering that most had concerns about their development documented in their records before their third birthday.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, et al. Nature. May 2009.
In the past few years, scientists studying autism have become very interested in a specific type of genetic variation caused by submicroscopic DNA deletions or duplications. Known as copy number variants (CNV), these mutations seem to occur more frequently in people with ASD and are yielding clues about the genetic basis of the disorder. For example, a 2008 study found that people with copy number variants in a region of chromosome 16 are likely to develop ASD. (This chromosomal region includes genes that appear to be related to neurodevelopment and brain function.) Now, a study of CNVs across the entire ASD genome has identified a cellular pathway known as the 'ubiquitin pathway' as potentially playing a role in ASD. This pathway is involved in altering protein function and acts as a 'filtration system' by removing unused or damaged proteins from the cell. The study, published in Nature in April 2009, also revealed variants in genes that had previously been identified in other studies, such as neurexin 1 (NRNX1) and contactin 4 (CNTN4). These genes code for proteins that help neurons adhere to one another and create synaptic connections, which are necessary for communication between neurons. Other genes with the similar functions, neuroligin 1 (NLGN1) and astrotactin 2 (ASTN2), were also newly implicated. The authors hypothesize that the two different types of gene networks identified in the study (ubiquitin-related and synaptic) may interact within the brain. They also note that while the CNVs found in the study are only present in a small percentage of people with ASD, they reveal important gene networks that may contribute to the disorder. Understanding the genetics of ASD may help researchers to categorize the disorder into subtypes and could eventually lead to the development of therapeutics targeting specific biological pathways.
Genomic and epigenomic evidence for oxytocin receptor deficiency in autism
Gregory, et al. BMC Medicine. October 2009.
Oxytocin is a hormone believed to be involved in social behaviors such as recognition, bonding, and trust, as well as anxiety and repetitive behaviors. Acting primarily in the brain, early studies have suggested that oxytocin may play a role in ASD and some have suggested supplementing levels of the hormone as a potential treatment. A study published in BMC Medicine further supports the role of oxytocin receptors, which allow oxytocin to bind to neurons, in ASD. After comparing the complete genomes of 119 people who came from families with multiple cases of autism, researchers found one boy with ASD who was missing one copy of the oxytocin receptor gene (OXTR). His mother was missing one copy of the gene as well and showed symptoms of obsessive-compulsive disorder. Although his sibling with ASD was not missing the oxytocin receptor gene, the researchers found evidence suggesting that epigenetic changes — changes which can alter the expression of the gene without changing its basic DNA — could be the cause. These epigenetic changes can be caused by environmental factors and most commonly result from chemical entities called methyl groups attaching to points on the DNA helix. These methyl groups are read and, as a result, the gene is "turned off" (silenced) or "turned on" (activated). After examining levels of methylation in the sibling, it was found that there was increased methylation in a region that regulates the activity of the OXTR gene, suggesting that the gene was effectively silenced. The researchers also found evidence of epigenetic changes to elements that regulate OXTR in the blood and brain tissue of other people with ASD. This research provides more evidence that OXTR and the signaling pathway for oxytocin are involved in the disorder. This could potential give rise to therapeutics in the future, based on what researchers have discovered about the role of oxytocin in ASD.
Risk of autism and increasing maternal and paternal age in a large North American population
Grether, et al. American Journal of Epidemiology. November 2009.
Older mothers and older fathers are more likely to have a child with ASD when compared to younger parents, according to a study of 7.5 million children born in California from 1989 - 2002. While previous studies had shown a link between a father's age and autism risk, studies on the effect of a mother's age were not as conclusive. This study found that for every ten-year increase in a mother's age, her risk of having a child with ASD rose by 38 percent, independent of her partner's age. Each ten-year increase in a father's age raised his risk by 22 percent. This effect was seen in all races and ethnicities and was not affected by the baby's birth weight or gestational age. Parents' age had a greater affect on autism risk in first-born children than children born later. More research is necessary to understand why older parents are more likely to have children with ASD, but the authors hypothesize that a number of factors that impact older women may play a role, including hormonal changes that could affect fetal brain development, increased use of assisted reproductive technologies, age-related genetic changes, and the cumulative effect of exposures to environmental toxins. Older men are known to have accumulated a greater number of spontaneous genetic mutations in their sperm over time, which could increase the chances of having a child with ASD. More research is needed to understand autism risk factors and ultimately to communicate them to the public.
Representation of internal models of action in the autistic brain
Haswell, et al. Nature Neuroscience. August 2009.
Whenever a person decides to perform a movement, such as lifting his arm, the brain creates a model to predict what kind of sensory information will result. This model gives the person a sense of how the orientation of his arm will feel in relationship to his body, for example. Researchers have found that people with ASD are over-reliant on this sensory feedback (also called "proprioceptive information"), and that greater reliance is linked to greater levels of social impairment and poorer imitation skills. During the study, children were asked to manipulate a robotic arm to move a cursor to a target, "capturing" animals projected onto a screen if the child was quick and accurate enough. Children with ASD and typically developing children were trained on the robotic arm. After the training round, the handle for the robotic arm was moved, making it necessary for the children to readjust to the new positioning. The study revealed that children with ASD were over-reliant on their mental model of how their arm should feel in relationship to their body during the task. They were unable to use visual cues and adjust to the new positioning like their typically developing peers. These findings could explain in part why children with ASD often have issues with motor control and imitation, and may help to develop methods for improving motor skills in the future.
Incidence of gastrointestinal symptoms in children with autism: a population-based study
Ibrahim, et al. Pediatrics. August 2009.
The first long-term study of gastrointestinal (GI) issues in children with ASD found no difference in the frequency of symptoms when compared with typically developing children. While the issue remains a contentious one, this research adds to a body of evidence that GI disorders are no more frequent in children with ASD than they are in the general population. In the study, researchers tracked all the residents of Olmsted County, Minnesota who were younger than 21 years of age between 1976 and 1997. Within this group, there were 124 children who were diagnosed with ASD. The researchers followed these children, along with typically developing children of the same age and gender, until they were about 18 years old, tracking their gastrointestinal symptoms over many years. They found no difference between the two groups in overall incidence of GI symptoms or specific GI disorders. Although children with ASD were more likely to have constipation or feeding issues such as food selectivity, the authors suggest that these problems resulted from ASD-related behaviors rather than from true GI disorders. They conclude that although there may be subgroups of children with ASD who suffer from concurrent GI disorders that contribute to their behavior, this study suggests that in general, GI disorders are not more common in children with ASD than they are in typically developing children. They caution against the indiscriminate use of restrictive diets, vitamin and mineral supplements, and other related treatments for children with ASD, noting that these alternative treatments should only be used on a case-by-case basis for children with a diagnosed GI disorder.
Diagnostic change and the increased prevalence of autism
King & Bearman. International Journal of Epidemiology. October 2009.
While autism prevalence has increased dramatically in the last 30 years, it is unclear how much of the increase can be explained by changes to diagnostic criteria and guidelines. After creating a statistical model based on the analysis of service records, researchers estimated that more than one-quarter (26.4%) of the increase in California since 1992 can be explained by a change in diagnosis among a specific group — people initially diagnosed with mental retardation whose diagnosis was later changed to autism. Researchers examined the case records of more than 7,000 people with ASD born before 1987 who were enrolled with the California Department of Developmental Services between 1992 and 2005. They paid particular attention to a group of patients who were initially diagnosed with mental retardation and then received an alternate or additional diagnosis of autism. After analysis, the researchers found that patients were much likelier to acquire an autism diagnosis after changes to the Diagnostic and Statistical Manual of Mental Disorders (DSM), or other diagnostic guidelines. There have been multiple changes to the DSM definition of autism since 1987, most significantly when the fourth edition was published in 1994. The authors conclude that changes in practices for diagnosing autism have had a substantial effect on the overall autism rate. While the shift in diagnosis from mental retardation to autism accounts for one-quarter of the increase, the reasons for the remaining 75 percent are still unexplained. Understanding the multiple factors that are influencing the increase in ASD may ultimately help to identify the underlying causes.
Two-year olds with autism orient to non-social contingencies rather than biological motion
Klin, et al. Nature. May 2009.
People with ASD tend to fixate on other's mouths when they speak rather than their eyes. Now a study published in Nature may explain why – the synchronization between mouth movements and speech are compelling for people with the disorder. In a study of toddlers, when presented with a range of possible cartoons to observe, children with ASD were preoccupied with cartoons where motion synchronized with sound, such as dots colliding to a produce a clapping sound. On the other hand, typically developing children were equally interested in cartoons where motion-sound synchrony was not as strong. The researchers studied the toddlers' eye movements while watching animations of people moving that had been reduced to points of light at each joint. Even with only a set of moving dots, young children without ASD are able to identify biological motion, such as a person walking, and are naturally drawn to it. The children with ASD showed no preference for biological motion over other types of movement, but were fascinated by animation where sound and motion synchronized. This is a likely explanation for why people with ASD favor the mouth over the eyes during a conversation. Understanding this tendency may help to develop future interventions.
Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007
Kogan, et al. Pediatrics. November 2009.
A 2007 survey of parents across the U.S., called the National Survey of Children's Health (NSCH), showed a similarly increased rate of ASD as the CDC surveillance study (CDC, 2009) published soon after. Parents who participated in the NCSH were asked whether their child had ever been diagnosed with ASD by a doctor or other health professional. They were then asked if their child currently had ASD. Based on the number of parents who said that their child had been diagnosed and still held the diagnosis, researchers estimated that ASD occurs in about 1 in 91 children in the U.S., slightly higher than the rate of 1 in 110 children found in the CDC study. Similar to other studies, boys were four times as likely to have ASD as girls and white children were more likely to be affected than black or multi-racial children. Interestingly, nearly 40 percent of children who had been diagnosed with ASD in the past no longer had the disorder, according to their parents. Black children were more likely than white children to have reportedly lost their diagnosis. The authors note that the number of children losing their diagnosis could be inflated — children who were suspected to have ASD but later found not to after subsequent assessments would be included in this group. It is also possible that children with developmental delays, mental retardation, or learning disabilities were initially classified as having ASD to obtain needed services. Unfortunately, these hypotheses cannot be tested using the data collected in this study. This study does give more evidence that the rate of ASD is increasing. Surveillance efforts such as these are critical to determining prevalence and providing information for communities when planning for services.
Racial/ethnic disparities in the identification of children with autism spectrum disorders
Mandell, et al. American Journal of Public Health. March 2009.
Studies have shown that ASD is often diagnosed long after symptoms have appeared or is misdiagnosed as another disorder. Unfortunately, these delays and errors seem to be even more frequent in racial and ethnic minorities. A study published in the March issue of the American Journal of Public Health revealed that black and Hispanic children with ASD were less likely to have been diagnosed by a medical professional than were white children. This was also true of children who identified their race/ethnicity as "other." Most of the Asian and Hispanic children who failed to be diagnosed with ASD also had an intellectual disability (IQ<70), which can complicate ASD diagnosis. However, black children were less likely to be diagnosed regardless of whether or not they had an intellectual disability. Researchers screened health care and education records from about 2,600 eight-year-olds at sites across the U.S. involved in the CDC's Autism and Development Disabilities Monitoring (ADDM) network. Using the records, experienced clinical reviewers assessed whether the child had documented symptoms that met the criteria for ASD and whether an official diagnosis had been made. In total, only 58 percent of children in the study meeting the case definition of ASD had received a diagnosis. In addition to minority groups, girls were also significantly less likely to receive a diagnosis when compared to boys. This was also true of children whose mothers had not completed high school. The authors note that mothers with greater education may be more aware that a diagnosis is necessary to receive educational services. The significant racial and ethnic disparities shown in the study support the need for continued professional education for clinicians to improve ASD identification in children.
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
Nakatani, et al.Cell. June 2009.
Researchers bred mice to have a genetic abnormality that is analogous to one frequently seen in people with ASD and found that the mice showed similar patterns of inflexible behavior, impaired social skills, and anxiety seen in people with the disorder. The mice were engineered to have a duplication on mouse chromosome 7 that bears strong similarity to a particular region of human chromosome 15 — 15q11-13 — which has been linked to autism. In the study, researchers found that animals that had inherited the engineered duplication from their fathers showed behaviors characteristic of ASD. These mice showed impaired social abilities, choosing not to interact when introduced to a stranger mouse, and were less able to adapt to changes in mazes than other mice. They were also more likely to show anxiety or depression, based on their reactions to forced swim tests and their increased distress calls when separated from their mother as pups. These findings give evidence that duplications to this particular genomic region can contribute to the behaviors typical of ASD. In addition, this research represents an advance in the development of animal models of autism that display both genetic and behavioral similarities to the disorder in humans. Animal models such as this one will be critical for future research into the underlying biology of ASD.
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
Ramocki, et al. Annals of Neurology. December 2009.
Boys with a rare and potentially fatal brain disorder caused by an additional copy of the MECP2 gene are very likely to also have autism, based on a study published in the Annals of Neurology. Genetic variation in the MECP2 gene (methyl-CpG-binding protein 2) is known to cause Rett syndrome, a neurodevelopmental disorder on the autism spectrum that appears in girls. Researchers set out to find if the duplication of this gene would cause autism in males and lesser ASD symptoms in females. MECP2 codes for a protein which is essential for brain development and is thought to be involved in the silencing ("turning off") of several other genes. Boys with an additional copy of MECP2 develop MeCP2 Duplication Syndrome, a recently discovered disorder marked by severe intellectual disability, muscle weakness, and seizures. Researchers studied eight families with MECP2 duplication (9 males and 9 females) and found that all of the boys had classic autism and mental retardation. Their mothers, who were shown to be carriers of the disorder, all experienced psychiatric symptoms, including anxiety, depression, and compulsive behavior. Four of the seven mothers were on the autism spectrum. This study supports genetic testing for MECP2 duplication in boys with autism and mental retardation. If the disorder is identified, the entire family may benefit from genetic counseling – mothers are likely to be carriers and siblings may also be affected. This study also suggests that since duplication of the MECP2 gene is so strongly linked to development of autism in humans, that study of MECP2 function in animal models may reveal critical new insights into how autism develops.
Timing of identification among children with an autism spectrum disorder: findings from a population-based surveillance study
Shattuck, et al. Journal of the American Academy of Child and Adolescent Psychiatry. May 2009.
A large national study of children with ASD revealed that the median age of diagnosis was nearly 6 years old and more than one-quarter of the children were not diagnosed until age 8. Experienced clinicians can identify autism between 2 and 3 years of age, so these statistics show that diagnosis is significantly delayed in most cases. With later diagnosis, children with ASD miss a critical window for early intervention, which has been shown to have a profound impact on development. Researchers reviewed the medical records and education records, when available, of the approximately 2,600 children included in the 2002 ADDM surveillance study. An analysis of the data showed that boys were more likely to be diagnosed at a younger age, as were children with intellectual disabilities (IQ<70), and those who had experienced regression. The authors noted that the gender differences in diagnosis could stem from cultural biases about what constitutes normal behavior for girls – for, example shyness may be more socially acceptable. There was no difference in age of diagnosis across races after adjusting for other factors. This study shows significant delays between the age at which diagnosis is possible and when it is actually taking place. Researchers need to conduct research to understand the consequences of late identification and develop methods to improve the timing of diagnosis. Future efforts should also focus on identifying ASD in school-aged children who may not have been diagnosed earlier, according to the study authors.
Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice
Tropea, et al. Proceedings of the National Academy of Sciences USA. February 2009.
Researchers were able to reverse some of the symptoms of Rett syndrome in a mouse model through daily injections of insulin-like growth factor-1 (IGF-1), a hormone involved in childhood growth. Rett syndrome, classified as part of the autism spectrum, occurs almost exclusively in girls and is caused by mutations to the MeCP2 gene on the X chromosome. Researchers bred mice with the same genetic abnormality and, as a result, showed similar symptoms to humans with Rett syndrome: lethargy, abnormal breathing, irregular heartbeat, smaller brains, and shortened lifespan. Researchers also observed that the MeCP2 mutant mice had immature synapses, which are necessary for sending signals throughout the brain. Previous research had suggested that one of the target genes regulated by MeCP2 is brain-derived neurotrophic factor (BDNF), which is a growth factor protein that stimulates growth and differentiation of neurons and synapses. Because BDNF does not easily cross the blood-brain barrier, researchers decided to try to see if another related growth factor called insulin growth factor -1 (IGF-1) might be able to reverse Rett syndrome symptoms in the mouse model. The researchers found that after daily injections of IGF-1, the mice were more active, their breathing and heart rate normalized, and they lived longer than the MeCP2 mice that did not receive the treatment. Importantly, their brain weight increased and they showed signs that their synapses were maturing — the number of dendritic spines, projections on the neuron used to send and receive electrical signals, also increased. The authors note that while the effects of IGF-1 are significant, the mice still develop the full range of symptoms and die prematurely. More research is needed to understand how IGF-1 works to reduce symptoms of Rett syndrome, but this study has exciting implications for potential treatments.
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, et al. Nature. May 2009.
Researchers have identified several genomic variants commonly found in people with ASD near two genes on chromosome 5. The strong association of these variants with cases of ASD suggests that they confer risk for the disorder. While many other genetic variants linked to ASD have been identified to date, individually those variants are rare, accounting for only a fraction of cases. This study is the first to find common variants associated with ASD, and came after examining the full genomes of 10,000 people with ASD, family members, and volunteers. The two genes implicated, cadherin 9 (CDH9) and cadherin 10 (CDH10), code for proteins that are embedded in the surface of neurons and allow them to adhere to one another. The authors believe that the newly identified variants may impact the function of these two nearby genes, disrupting neural connections being formed in the developing brain. This finding converges with other recent studies that have implicated genes with a similar function. Results of the study were replicated in two other sample groups. Genome-wide studies allow an extremely comprehensive look at the genetic risk factors for ASD. Together with studies of environmental risk factors and changes to gene expression, scientists will be better able to understand the basis of ASD, which may ultimate result in new treatments and strategies for prevention.
A genome-wide linkage and association scan reveals novel loci for autism
Weiss, et al. Nature. October 2009.
While past studies have had limited success identifying autism risk genes that could account for the majority of cases, new technologies that allow researchers to scan a person's entire genetic make-up are leading to new breakthroughs. One such genome-wide study of more than 1,500 people with ASD revealed that genetic abnormalities at a region on chromosome 5 — 5p15 — are linked to the disorder. A gene in this region, semaphorin-5A (SEMA5A), is involved in guiding the neuron's axon during early brain development (the axon is the projection from the neuron that conducts the impulses used to communicate with other cells). Researchers found decreased levels of the protein produced by SEMA5A in the brains of people with ASD, which suggests that the gene is involved in ASD. In addition to the region on chromosome 5, two other locations were found to be associated with ASD: regions on chromosome 6 (6q27) and chromosome 20 (20p13). By identifying genetic regions and specific genes related to ASD, researchers may be able to one day conduct genetic screening for the disorder to improve diagnosis and develop targeted treatments.
Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants
Zwaigenbaum, et al. Pediatrics. May 2009.
With the increased emphasis on early detection and the recommendations from the American Academy of Pediatrics that all 18- and 24-month-olds be screened for ASD, it is important for clinicians to understand how the diagnostic criteria for ASD can be applied to children in this age group and which methods and tools can be used to provide the most reliable diagnosis. An article published in Pediatrics addresses what is known about the early signs of ASD, best practices for diagnosis in very young children, and available interventions. Studies of infants who have an older sibling with ASD show that developmental delays related to the disorder can be detected from 12 to 18 months of age. These signs could include a lack of eye contact, delayed motor skills, repetitive actions with toys, or a lack of babbling. However, doctors are faced with trying to diagnose ASD with assessments that may not be useful for children under two years of age. Research shows that fewer than 1 in 5 children diagnosed with ASD at 20 to 24 months of age were correctly identified by the Checklist for Autism in Toddlers (CHAT) at 18 months. Even if a diagnosis is suspected, clinicians have difficulty recommending appropriate interventions for children less than two years of age. It has not been established whether interventions designed for pre-school age children are beneficial for toddlers. The authors advise clinicians to follow up with parents who express concerns about their toddler's development, referring them for additional evaluation and early intervention services when appropriate. Ongoing research will help to expand the options for diagnosing and treating very young children suspected to have ASD.
Citation List – Articles Selected for the 2009 Summary of Advances
Aman MG, McDougle CJ, Scahill L, Handen B, Arnold LE, Johnson C, Stigler KA, Bearss K, Butter E, Swiezy NB, Sukhodolsky DD, Ramadan Y, Pozdol SL, Nikolov R, Lecavalier L, Kohn AE, Koenig K, Hollway JA, Korzekwa P, Gavaletz A, Mulick JA, Hall KL, Dziura J, Ritz L, Trollinger S, Yu S, Vitiello B, Wagner A; the Research Units on Pediatric Psychopharmacology Autism Network. Medication and parent training in children with pervasive developmental disorders and serious behavior problems: results from a randomized clinical trial. J Am Acad Child Adolesc Psychiatry. 2009 Dec;48(12):1143-1154.
Atladóttir HO, Pedersen MG, Thorsen P, Mortensen PB, Deleuran B, Eaton WW, Parner ET. Association of family history of autoimmune diseases and autism spectrum disorders. Pediatrics. 2009 Aug;124(2):687-94.
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009 Jun;5(6):e1000536.
Centers for Disease Control and Prevention (CDC); Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ. 2009 Dec 18;58(10):1-20.
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009 May 28;459(7246):569-73.
Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G, Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med. 2009 Oct 22;7:62.
Grether JK, Anderson MC, Croen LA, Smith D, Windham GC. Risk of autism and increasing maternal and paternal age in a large North American population. Am J Epidemiol. 2009 Nov 1;170(9):1118-26.
Haswell CC, Izawa J, Dowell LR, Mostofsky SH, Shadmehr R. Representation of internal models of action in the autistic brain. Nat Neurosci. 2009 Aug;12(8):970-2.
Ibrahim SH, Voigt RG, Katusic SK, Weaver AL, Barbaresi WJ. Incidence of gastrointestinal symptoms in children with autism: a population-based study. Pediatrics. 2009 Aug;124(2):680-6.
King M, Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol. 2009 Oct;38(5):1224-34.
Klin A, Lin DJ, Gorrindo P, Ramsay G, Jones W. Two-year-olds with autism orient to non-social contingencies rather than biological motion. Nature. 2009 May 14;459(7244):257-61.
Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics. 2009 Nov;124(5):1395-403.
Mandell DS, Wiggins LD, Carpenter LA, Daniels J, DiGuiseppi C, Durkin MS, Giarelli E, Morrier MJ, Nicholas JS, Pinto-Martin JA, Shattuck PT, Thomas KC, Yeargin-Allsopp M, Kirby RS. Racial/ethnic disparities in the identification of children with autism spectrum disorders. Am J Public Health. 2009 Mar;99(3):493-8.
Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, Tomonaga S, Watanabe Y, Chung YJ, Banerjee R, Iwamoto K, Kato T, Okazawa M, Yamauchi K, Tanda K, Takao K, Miyakawa T, Bradley A, Takumi T. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell. 2009 Jun 26;137(7):1235-46.
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec;66(6):771-82.
Shattuck PT, Durkin M, Maenner M, Newschaffer C, Mandell DS, Wiggins L, Lee LC, Rice C, Giarelli E, Kirby R, Baio J, Pinto-Martin J, Cuniff C. Timing of identification among children with an autism spectrum disorder: findings from a population-based surveillance study. J Am Acad Child Adolesc Psychiatry. 2009 May;48(5):474-83.
Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, Flannery R, Jaenisch R, Sur M. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):2029-34.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28;459(7246):528-33.
Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 Oct 8;461(7265):802-8.
Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, Chawarska K, Constantino J, Dawson G, Dobkins K, Fein D, Iverson J, Klin A, Landa R, Messinger D, Ozonoff S, Sigman M, Stone W, Tager-Flusberg H, Yirmiya N. Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics. 2009 May;123(5):1383-91.
Full Listing of Nominated Articles
Question 1: When Should I Be Concerned?
Adamson LB, Bakeman R, Deckner DF, Romski M. Joint engagement and the emergence of language in children with autism and Down syndrome. J Autism Dev Disord. 2009 Jan;39(1):84-96. [PMID: 18581223]
Anderson DK, Oti RS, Lord C, Welch K. Patterns of growth in adaptive social abilities among children with autism spectrum disorders. J Abnorm Child Psychol. 2009 Oct;37(7):1019-34. [PMID: 19521762]
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention (CDC). Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ. 2009 Dec 18;58(10):1-20. [PMID: 20023608]
Barbaresi WJ, Colligan RC, Weaver AL, Katusic SK. The incidence of clinically diagnosed versus research-identified autism in Olmsted County, Minnesota, 1976-1997: results from a retrospective, population-based study. J Autism Dev Disord. 2009 Mar;39(3):464-70. [PMID: 18791815]
Baron-Cohen S, Scott FJ, Allison C, Williams J, Bolton P, Matthews FE, Brayne C. Prevalence of autism-spectrum conditions: UK school-based population study. Br J Psychiatry. 2009 Jun;194(6):500-9. [PMID: 19478287]
Black DO, Wallace GL, Sokoloff JL, Kenworthy L. Brief report: IQ split predicts social symptoms and communication abilities in high-functioning children with autism spectrum disorders. J Autism Dev Disord. 2009 Nov;39(11):1613-9. [PMID: 19572193]
Chawarska K, Klin A, Paul R, Macari S, Volkmar F. A prospective study of toddlers with ASD: short-term diagnostic and cognitive outcomes. J Child Psychol Psychiatry. 2009 Oct;50(10):1235-45. [PMID: 19594835]
Constantino JN, Abbacchi AM, Lavesser PD, Reed H, Givens L, Chiang L, Gray T, Gross M, Zhang Y, Todd RD. Developmental course of autistic social impairment in males. Dev Psychopathol. 2009 Winter;21(1):127-38. [PMID: 19144226].
Dichter GS, Lam KS, Turner-Brown LM, Holtzclaw TN, Bodfish JW. Generativity abilities predict communication deficits but not repetitive behaviors in autism spectrum disorders. J Autism Dev Disord. 2009 Sep;39(9):1298-304. [PMID: 19396536]
Dickie VA, Baranek GT, Schultz B, Watson LR, McComish CS. Parent reports of sensory experiences of preschool children with and without autism: a qualitative study. Am J Occup Ther. 2009 Mar-Apr;63(2):172-81. [PMID: 19432055].
Dodds L, Spencer A, Shea S, Fell D, Armson BA, Allen AC, Bryson S. Validity of autism diagnoses using administrative health data. Chronic Dis Can. 2009;29(3):102-7. [PMID: 19527568]
Esbensen AJ, Seltzer MM, Lam KS, Bodfish JW. Age-related differences in restricted repetitive behaviors in autism spectrum disorders. J Autism Dev Disord. 2009: Jan;39(1), 57-66. [PMID: 18566881]
Gotham K, Pickles A, Lord C. Standardizing ADOS Scores for a measure of severity in autism spectrum disorders. J Autism Dev Disord. 2009 May;39(5):693-705. [PMID: 19082876]
Hartley SL, Sikora DM. Which DSM-IV-TR criteria best differentiate high-functioning autism spectrum disorder from ADHD and anxiety disorders in older children? Autism. 2009 Sep;13(5):485-509. [PMID: 19759063]
Hazlett HC, Poe MD, Lightbody AA, Gerig G, Macfall JR, Ross AK, Provenzale J, Martin A, Reiss AL, Piven J. Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord. 2009 Mar;1(1):81-90. [PMID: 20700390]
Henderson HA, Zahka NE, Kojkowski NM, Inge AP, Schwartz CB, Hileman CM, Coman DC, Mundy PC. Self-referenced memory, social cognition, and symptom presentation in autism. J Child Psychol Psychiatry. 2009 Jul;50(7):853-61. [PMID: 19298471]
Hertz-Picciotto I, Delwiche L. The rise in autism and the role of age at diagnosis. Epidemiology. 2009 Jan;20(1):84-90. [PMID: 19234401]
Hu VW, Steinberg ME. Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders. Autism Res. 2009 Apr;2(2):67-77. [PMID: 19455643]
Kanne SM, Abbacchi AM, Constantino JN. Multi-informant ratings of psychiatric symptom severity in children with autism spectrum disorders: the importance of environmental context. J Autism Dev Disord. 2009 Jun;39(6):856-64. [PMID: 19191016]
Key APF, Stone W, Williams SM. What do infants see in faces? ERP evidence of different roles of eyes and mouth for face perception in 9-month-old infants. Infant and Child Development. 2009 18:149-62. [[Wiley InterScience]
King M, Bearman P. Diagnostic change and the increased prevalence of autism. Int J Epidemiol. 2009 Oct;38(5):1224-34. [PMID: 19737791]
Kleinhans NM, Richards T, Weaver KE, Liang O, Dawson G, Aylward E. Brief report: biochemical correlates of clinical impairment in high functioning autism and Asperger's disorder. J Autism Dev Disord. 2009 Jul;39(7):1079-86. [PMID: 19234776].
Klin A, Lin DJ, Gorrindo P, Ramsay G, Jones W. Two-year-olds with autism orient to non-social contingencies rather than biological motion. Nature. 2009 May 14;459(7244):257-61. [PMID: 19329996]
Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics. 2009 Nov;124(5):1395-403. [PMID: 19805460].
Kuban KC, O'Shea TM, Allred EN, Tager-Flusberg H, Goldstein DJ, Leviton A. Positive screening on the Modified Checklist for Autism in Toddlers (M-CHAT) in extremely low gestational age newborns. J Pediatr. 2009 Apr;154(4):535-540.e1. [PMID: 19185317]
Lecavalier L, Gadow KD, DeVincent CJ, Edwards MC. Validation of DSM-IV model of psychiatric syndromes in children with autism spectrum disorders. J Autism Dev Disord. 2009 Feb;39(2):278-89.[PMID: 18654843]
Luyster R, Gotham K, Guthrie W, Coffing M, Petrak R, Pierce K, Bishop S, Esler A, Hus V, Oti R, Richler J, Risi S, Lord C. The Autism Diagnostic Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders.J Autism Dev Disord. 2009 Sep;39(9):1305-20. [PMID: 19415479]
Mandell DS, Wiggins LD, Carpenter LA, Daniels J, DiGuiseppi C, Durkin MS, Giarelli E, Morrier MJ, Nicholas JS, Pinto-Martin JA, Shattuck PT, Thomas KC, Yeargin-Allsopp M, Kirby RS. Racial/ethnic disparities in the identification of children with autism spectrum disorders. Am J Public Health. 2009 Mar;99(3):493-8. [PMID: 19106426]
McCleery JP, Akshoomoff N, Dobkins KR, Carver LJ. Atypical face versus object processing and hemispheric asymmetries in 10-month-old infants at risk for autism. Biol Psychiatry. 2009 Nov 15;66(10):950-7. [PMID: 19765688]
Mosconi MW, Kay M, D'Cruz AM, Seidenfeld A, Guter S, Stanford LD, Sweeney JA. Impaired inhibitory control is associated with higher-order repetitive behaviors in autism spectrum disorders. Psychol Med. 2009 Sep;39(9):1559-66. [PMID: 19154646]
Mosconi MW, Steven Reznick J, Mesibov G, Piven J. The Social Orienting Continuum and Response Scale (SOC-RS): a dimensional measure for preschool-aged children. J Autism Dev Disord. 2009 Feb;39(2):242-50. [PMID: 18648919]
Mulligan A, Richardson T, Anney RJ, Gill M. The Social Communication Questionnaire in a sample of the general population of school-going children. Ir J Med Sci. 2009 Jun;178(2):193-9. [PMID: 18651205]
Ozonoff S, Young GS, Steinfeld MB, Hill MM, Cook I, Hutman T, Macari S, Rogers SJ, Sigman M. How early do parent concerns predict later autism diagnosis? J Dev Behav Pediatr. 2009 Oct;30(5):367-75. [PMID: 19827218]
Pandolfi V, Magyar CI, Dill CA. Confirmatory factor analysis of the child behavior checklist 1.5-5 in a sample of children with autism spectrum disorders.J Autism Dev Disord. 2009 Jul;39(7):986-95. [PMID: 19263208]
Parlade MV, Messinger DS, Delgado CE, Kaiser MY, Van Hecke AV, Mundy PC. Anticipatory smiling: linking early affective communication and social outcome. Infant Behav Dev. 2009 Jan;32(1):33-43. [PMID: 19004500]
Paul R, Orlovski SM, Marcinko HC, Volkmar F. Conversational behaviors in youth with high-functioning ASD and Asperger syndrome. J Autism Dev Disord. 2009 Jan;39(1):115-25. [PMID: 18607708]
Roberts JE, Mankowski JB, Sideris J, Goldman BD, Hatton DD, Mirrett PL, Baranek GT, Reznick JS, Long AC, Bailey DB Jr. Trajectories and predictors of the development of very young boys with fragile X syndrome. J Pediatr Psychol. 2009 Sep;34(8):827-36. [PMID: 19074489]
Schwartz CB, Henderson HA, Inge AP, Zahka NE, Coman DC, Kojkowski NM, Hileman CM, Mundy PC. Temperament as a predictor of symptomotology and adaptive functioning in adolescents with high-functioning autism. J Autism Dev Disord. 2009 Jun;39(6):842-55. [PMID: 19165586]
Shattuck PT, Durkin M, Maenner M, Newschaffer C, Mandell DS, Wiggins L, Lee LC, Rice C, Giarelli E, Kirby R, Baio J, Pinto-Martin J, Cuniff C. Timing of identification among children with an autism spectrum disorder: findings from a population-based surveillance study. J Am Acad Child Adolesc Psychiatry. 2009 May;48(5):474-83. [PMID: 19318992]
Shumway S, Wetherby AM. Communicative acts of children with autism spectrum disorders in the second year of life. J Speech Lang Hear Res. 2009 Oct;52(5):1139-56. [PMID: 19635941]
Smith CJ, Lang CM, Kryzak L, Reichenberg A, Hollander E, Silverman JM. Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism. J Child Psychol Psychiatry. 2009 Aug;50(8):982-90. [PMID: 19298470]
Spreng RN, McKinnon MC, Mar RA, Levine B. The Toronto Empathy Questionnaire: scale development and initial validation of a factor-analytic solution to multiple empathy measures. J Pers Assess. 2009 Jan;91(1):62-71. [PMID: 19085285]
Virkud YV, Todd RD, Abbacchi AM, Zhang Y, Constantino JN. Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):328-34. [PMID: 18618672]
Volden J, Coolican J, Garon N, White J, Bryson S. Brief report: pragmatic language in autism spectrum disorder: relationships to measures of ability and disability. J Autism Dev Disord. 2009 Feb;39(2):388-93. [PMID: 18626760]
Warren Z, Stone W, Humberd Q. A training model for the diagnosis of autism in community pediatric practice. J Dev Behav Pediatr. 2009 Oct;30(5):442-6. [PMID: 19823138]
Yerys BE, Wallace GL, Harrison B, Celano MJ, Giedd JN, Kenworthy LE. Set-shifting in children with autism spectrum disorders: reversal shifting deficits on the Intradimensional/Extradimensional Shift Test correlate with repetitive behaviors. Autism. 2009 Sep;13(5):523-38. [PMID: 19759065]
Yerys BE, Wallace GL, Sokoloff JL, Shook DA, James JD, Kenworthy L. Attention deficit/hyperactivity disorder symptoms moderate cognition and behavior in children with autism spectrum disorders. Autism Res. 2009 Dec;2(6):322-33. [PMID: 19998356]
Yoder P, Stone WL, Walden T, Malesa E. Predicting social impairment and ASD diagnosis in younger siblings of children with autism spectrum disorder. Autism Dev Disord. 2009 Oct;39(10):1381-91. [PMID: 19449096]
Young GS, Merin N, Rogers SJ, Ozonoff S. Gaze behavior and affect at 6 months: predicting clinical outcomes and language development in typically developing infants and infants at risk for autism. Dev Sci. 2009 Sep;12(5):798-814. [PMID: 19702771]
Yuhas J, Walichiewicz P, Pan R, Zhang W, Casillas EM, Hagerman RJ, Tassone F. High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique. Genet Test Mol Biomarkers. 2009 Dec;13(6):855-9. [PMID: 19810826]
Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, Chawarska K, Constantino J, Dawson G, Dobkins K, Fein D, Iverson J, Klin A, Landa R, Messinger D, Ozonoff S, Sigman M, Stone W, Tager-Flusberg H, Yirmiya N. Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics. 2009 May;123(5):1383-91. [PMID: 19403506]
Question 2: How Can I Understand What Is Happening?
Ariyananda Lde Z, Lee P, Antonopoulos C, Colman RF. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. Biochemistry. 2009 Jun 16;48(23):5291-302. [PMID: 19405474]
Arnold JE, Bennetto L, Diehl JJ. Reference production in young speakers with and without autism: effects of discourse status and processing constraints. Cognition. 2009 Feb;110(2):131-46. [PMID: 19111285]
Atkinson AP. Impaired recognition of emotions from body movements is associated with elevated motion coherence thresholds in autism spectrum disorders. Neuropsychologia. 2009 Nov;47(13):3023-9. [PMID: 19500604]
Barnes E, Roberts J, Long SH, Martin GE, Berni MC, Mandulak KC, Sideris J. Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. J Speech Lang Hear Res. 2009 Aug;52(4):1048-61. [PMID: 19641081]
Boyd BA, McBee M, Holtzclaw T, Baranek GT, Bodfish JW. Relationships among repetitive behaviors, sensory features, and executive functions in high functioning autism. Res Autism Spectr Disord. 2009 Oct;3(4):959-966. [PMID: 21475640]
Brefczynski-Lewis J, Lowitszch S, Parsons M, Lemieux S, Puce A. Audiovisual non-verbal dynamic faces elicit converging fMRI and ERP responses. Brain Topogr. 2009 May;21(3-4):193-206. [PMID: 19384602]
Brun CC, Nicolson R, Leporé N, Chou YY, Vidal CN, DeVito TJ, Drost DJ, Williamson PC, Rajakumar N, Toga AW, Thompson PM. Mapping brain abnormalities in boys with autism. Hum Brain Mapp. 2009 Dec;30(12):3887-900. [PMID: 19554561]
Carpenter Rich E, Loo SK, Yang M, Dang J, Smalley SL. Social functioning difficulties in ADHD: association with PDD risk. Clin Child Psychol Psychiatry. 2009 Jul;14(3):329-44. [PMID: 19515751]
Casanova MF, El-Baz A, Mott M, Mannheim G, Hassan H, Fahmi R, Giedd J, Rumsey JM, Switala AE, Farag A. Reduced gyral window and corpus callosum size in autism: possible macroscopic correlates of a minicolumnopathy. J Autism Dev Disord. 2009 May;39(5):751-64. [PMID: 19148739]
Chandrasekaran C, Ghazanfar AA. Different neural frequency bands integrate faces and voices differently in the superior temporal sulcus. J Neurophysiol. 2009 Feb;101(2):773-88. [PMID: 19036867]
Cheng SB, Amici SA, Ren XQ, McKay SB, Treuil MW, Lindstrom JM, Rao J, Anand R. Presynaptic targeting of alpha4beta 2 nicotinic acetylcholine receptors is regulated by neurexin-1beta. J Biol Chem. 2009 Aug 28;284(35):23251-9. [PMID: 19567877]
Christie SB, Akins MR, Schwob JE, Fallon JR. The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits. J Neurosci. 2009 Feb 4;29(5):1514-24. [PMID: 19193898]
Colombi C, Liebal K, Tomasello M, Young G, Warneken F, Rogers SJ. Examining correlates of cooperation in autism: Imitation, joint attention, and understanding intentions. Autism. 2009 Mar;13(2):143-63. [PMID: 19261685]
Corbett BA, Carmean V, Ravizza S, Wendelken C, Henry ML, Carter C, Rivera SM. A functional and structural study of emotion and face processing in children with autism. Psychiatry Res. 2009 Sep 30;173(3):196-205. [PMID: 19665877]
Corbett BA, Constantine LJ, Hendren R, Rocke D, Ozonoff S. Examining executive functioning in children with autism spectrum disorder, attention deficit hyperactivity disorder and typical development. Psychiatry Res. 2009 Apr 30;166(2-3):210-22. [PMID: 19285351]
Corbett BA, Schupp CW, Levine S, Mendoza S. Comparing cortisol, stress, and sensory sensitivity in children with autism. Autism Res. 2009 Feb;2(1):39-49. [PMID: 19358306]
Dani VS, Nelson SB. Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome. J Neurosci. 2009 Sep 9;29(36):11263-70. [PMID: 19741133]
D'Cruz AM, Mosconi MW, Steele S, Rubin LH, Luna B, Minshew N, Sweeney JA. Lateralized response timing deficits in autism. Biol Psychiatry. 2009 Aug 15;66(4):393-7. [PMID: 19232577]
Di Martino A, Ross K, Uddin LQ, Sklar AB, Castellanos FX, Milham MP. Functional brain correlates of social and nonsocial processes in autism spectrum disorders: an activation likelihood estimation meta-analysis. Biol Psychiatry. 2009 Jan 1;65(1):63-74. [PMID: 18996505]
Di Martino A, Shehzad Z, Kelly C, Roy AK, Gee DG, Uddin LQ, Gotimer K, Klein DF, Castellanos FX, Milham MP. Relationship between cingulo-insular functional connectivity and autistic traits in neurotypical adults. Am J Psychiatry. 2009 Aug;166(8):891-9. [PMID: 19605539]
Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 6;29(18):5926-37. [PMID: 19420259]
Dichter GS, Felder JN, Bodfish JW, Sikich L, Belger A. Mapping social target detection with functional magnetic resonance imaging. Soc Cogn Affect Neurosci. 2009 Mar;4(1):59-69. [PMID: 19015088]
Dichter GS, Felder JN, Bodfish JW. Autism is characterized by dorsal anterior cingulate hyperactivation during social target detection. Soc Cogn Affect Neurosci. 2009 Sep;4(3):215-26. [PMID: 19574440]
Dissanayake C, Bui Q, Bulhak-Paterson D, Huggins R, Loesch DZ. Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome. J Child Psychol Psychiatry. 2009 Mar;50(3):290-9. [PMID: 19175809]
Dodds ED, Tassone F, Hagerman PJ, Lebrilla CB. Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene. Anal Chem. 2009 Jul 1;81(13):5533-40. [PMID: 19514725]
Dowell LR, Mahone EM, Mostofsky SH. Associations of postural knowledge and basic motor skill with dyspraxia in autism: implication for abnormalities in distributed connectivity and motor learning. Neuropsychology. 2009 Sep;23(5):563-70. [PMID: 19702410]
Elsen GE, Choi LY, Prince VE, Ho RK. The autism susceptibility gene met regulates zebrafish cerebellar development and facial motor neuron migration. Dev Biol. 2009 Nov 1;335(1):78-92. [PMID: 19732764]
Fan X, Miles JH, Takahashi N, Yao G. Abnormal transient pupillary light reflex in individuals with autism spectrum disorders. J Autism Dev Disord. 2009 Nov;39(11):1499-508. [PMID: 19499319]
Fatemi SH, Folsom TD, Reutiman TJ, Thuras PD. Expression of GABA(B) receptors is altered in brains of subjects with autism. Cerebellum. 2009 Mar;8(1):64-9. [PMID: 19002745]
Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD. GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord. 2009 Feb;39(2):223-30. [PMID: 18821008]
Frazier TW, Hardan AY. A meta-analysis of the corpus callosum in autism. Biol Psychiatry. 2009 Nov 15;66(10):935-41. [PMID: 19748080]
Freitag CM, Luders E, Hulst HE, Narr KL, Thompson PM, Toga AW, Krick C, Konrad C. Total brain volume and corpus callosum size in medication-naïve adolescents and young adults with autism spectrum disorder. Biol Psychiatry. 2009 Aug 15;66(4):316-9. [PMID: 19409535]
Frye RE, Beauchamp MS. Receptive language organization in high-functioning autism.J Child Neurol. 2009 Feb;24(2):231-6. [PMID: 19182164]
Fuentes CT, Mostofsky SH, Bastian AJ. Children with autism show specific handwriting impairments. Neurology. 2009 Nov 10;73(19):1532-7. [PMID: 19901244]
Gadow KD, DeVincent CJ, Schneider J. Comparative study of children with ADHD only, autism spectrum disorder + ADHD, and chronic multiple tic disorder + ADHD. J Atten Disord. 2009 Mar;12(5):474-85. [PMID: 19218544]
Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E. Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. J Autism Dev Disord. 2009 Nov;39(11):1542-51. [PMID: 19582565]
Gastgeb HZ, Rump KM, Best CA, Minshew NJ, Strauss MS. Prototype formation in autism: can individuals with autism abstract facial prototypes? Autism Res. 2009 Oct;2(5):279-84. [PMID: 19877157]
Gauthier I, Klaiman C, Schultz RT. Face composite effects reveal abnormal face processing in autism spectrum disorders. Vision Res. 2009 Feb;49(4):470-8. [PMID: 19135077]
Goldman SE, Surdyka K, Cuevas R, Adkins K, Wang L, Malow BA. Defining the sleep phenotype in children with autism. Dev Neuropsychol. 2009 Sep;34(5):560-73. [PMID: 20183719]
Goodlin-Jones B, Schwichtenberg AJ, Iosif AM, Tang K, Liu J, Anders TF. Six-month persistence of sleep problems in young children with autism, developmental delay, and typical development.J Am Acad Child Adolesc Psychiatry. 2009 Aug;48(8):847-54. [PMID: 19564800]
Goodlin-Jones B, Tang K, Liu J, Anders TF. Sleep problems, sleepiness and daytime behavior in preschool-age children. J Child Psychol Psychiatry. 2009 Dec;50(12):1532-40. [PMID: 19573036]
Goodlin-Jones BL, Waters S, Anders TF. Objective sleep measurement in typically and atypically developing preschool children with ADHD-like profiles. Child Psychiatry Hum Dev. 2009 Jun;40(2):257-68. [PMID: 19142725]
Grossman RB, Schneps MH, Tager-Flusberg H. Slipped lips: onset asynchrony detection of auditory-visual language in autism. J Child Psychol Psychiatry. 2009 Apr;50(4):491-7. [PMID: 19207623]
Guttmann-Steinmetz S, Gadow KD, Devincent CJ. Oppositional defiant and conduct disorder behaviors in boys with autism spectrum disorder with and without attention-deficit hyperactivity disorder versus several comparison samples. J Autism Dev Disord. 2009 Jul;39(7):976-85. [PMID: 19288296]
Hadjikhani N, Joseph RM, Manoach DS, Naik P, Snyder J, Dominick K, Hoge R, Van den Stock J, Tager Flusberg H, de Gelder B. Body expressions of emotion do not trigger fear contagion in autism spectrum disorder. Soc Cogn Affect Neurosci. 2009 Mar;4(1):70-8. [PMID: 19151375]
Hardan AY, Libove RA, Keshavan MS, Melhem NM, Minshew NJ. A preliminary longitudinal magnetic resonance imaging study of brain volume and cortical thickness in autism. Biol Psychiatry. 2009 Aug 15;66(4):320-6. [PMID: 19520362]
Hardan AY, Pabalan M, Gupta N, Bansal R, Melhem NM, Fedorov S, Keshavan MS, Minshew NJ. Corpus callosum volume in children with autism. Psychiatry Res. 2009 Oct 30;174(1):57-61. [PMID: 19781917]
Hasson U, Avidan G, Gelbard H, Vallines I, Harel M, Minshew N, Behrmann M. Shared and idiosyncratic cortical activation patterns in autism revealed under continuous real-life viewing conditions. Autism Res. 2009 Aug;2(4):220-31. [PMID: 19708061]
Haswell CC, Izawa J, Dowell LR, Mostofsky SH, Shadmehr R. Representation of internal models of action in the autistic brain. Nat Neurosci. 2009 Aug;12(8):970-2. [PMID: 19578379]
Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. Am J Med Genet A. 2009 Jun;149A(6):1125-37. [PMID: 19441123]
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Kim JY, Duan X, Liu CY, Jang MH, Guo JU, Pow-anpongkul N, Kang E, Song H, Ming GL. DISC1 regulates new neuron development in the adult brain via modulation of AKT-mTOR signaling through KIAA1212. Neuron. 2009 Sep 24;63(6):761-73. [PMID: 19778506]
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Soulières I, Dawson M, Samson F, Barbeau EB, Sahyoun CP, Strangman GE, Zeffiro TA, Mottron L. Enhanced visual processing contributes to matrix reasoning in autism. Hum Brain Mapp. 2009 Dec;30(12):4082-107. [PMID: 19530215]
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Question 3: What Caused This To Happen and Can This Be Prevented?
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Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry. 2009 Sep;66(9):947-56. [PMID: 19736351]
Hack M, Taylor HG, Schluchter M, Andreias L, Drotar D, Klein N. Behavioral outcomes of extremely low birth weight children at age 8 years. J Dev Behav Pediatr. 2009 Apr;30(2):122-30. [PMID: 19322106]
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL; Synapse to Disease Group. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med. 2009 Feb 5;360(6):599-605. [PMID: 19196676]
Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet. 2009 Feb;46(2):86-93. [PMID: 18835857]
Johnson WG, Buyske S, Mars AE, Sreenath M, Stenroos ES, Williams TA, Stein R, Lambert GH. HLA-DR4 as a risk allele for autism acting in mothers of probands possibly during pregnancy. Arch Pediatr Adolesc Med. 2009 Jun;163(6):542-6. [PMID: 19487610]
King MD, Fountain C, Dakhlallah D, Bearman PS. Estimated autism risk and older reproductive age. Am J Public Health. 2009 Sep;99(9):1673-9. [PMID: 19608957]
Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009;4(2):e4582. [PMID: 19242545]
LaFramboise T, Winckler W, Thomas RK. A flexible rank-based framework for detecting copy number aberrations from array data. Bioinformatics. 2009 Mar 15;25(6):722-8. [PMID: 19176555]
Larsson M, Weiss B, Janson S, Sundell J, Bornehag CG. Associations between indoor environmental factors and parental-reported autistic spectrum disorders in children 6-8 years of age. Neurotoxicology. 2009 Sep;30(5):822-31. [PMID: 19822263]
Leung KN, Vallero RO, DuBose AJ, Resnick JL, LaSalle JM. Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Hum Mol Genet. 2009 Nov 15;18(22):4227-38. [PMID: 19656775]
Li J, Vestergaard M, Obel C, Christensen J, Precht DH, Lu M, Olsen J. A nationwide study on the risk of autism after prenatal stress exposure to maternal bereavement. Pediatrics. 2009 Apr;123(4):1102-7. [PMID: 19336368]
Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C, Curatolo P, Manzi B, Schneider C, Melmed R, Elia M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry. 2009 Jul;14(7):705-18. [PMID: 18317465]
Liu X, Novosedlik N, Wang A, Hudson ML, Cohen IL, Chudley AE, Forster-Gibson CJ, Lewis SM, Holden JJ. The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. Eur J Hum Genet. 2009 Feb;17(2):228-35. [PMID: 18728693]
Loesch DZ, Godler DE, Khaniani M, Gould E, Gehling F, Dissanayake C, Burgess T, Tassone F, Huggins R, Slater H, Choo KH. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A. 2009 Oct;149A(10):2306-10. [PMID: 19760650]
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet. 2009 May;73(Pt 3):263-73. [PMID: 19456320]
Matuszek G, Talebizadeh Z. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet. 2009 Sep 24;10:102. [PMID: 19778453]
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. Microduplications of 16p11.2 are associated with schizophrenia. Nat Rev Neurosci. 2009 Nov;41(11):1223-7. [PMID: 19855392]
Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res. 2009 Sep;19(9):1579-85. [PMID: 19506092]
Meyer-Lindenberg A, Kolachana B, Gold B, Olsh A, Nicodemus KK, Mattay V, Dean M, Weinberger DR. Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans. Mol Psychiatry. 2009 Oct;14(10):968-75. [PMID: 18490926]
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr;46(4):242-8. [PMID: 18805830]
Neves-Pereira M, Müller B, Massie D, Williams JH, O'Brien PC, Hughes A, Shen SB, Clair DS, Miedzybrodzka Z. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet. 2009 Nov;46(11):759-65. [PMID: 19556253]
Onore C, Enstrom A, Krakowiak P, Hertz-Picciotto I, Hansen R, Van de Water J, Ashwood P. Decreased cellular IL-23 but not IL-17 production in children with autism spectrum disorders. J Neuroimmunol. 2009 Nov 30;216(1-2):126-9. [PMID: 19800697]
O'Shea TM, Allred EN, Dammann O, Hirtz D, Kuban KC, Paneth N, Leviton A; ELGAN study Investigators. The ELGAN study of the brain and related disorders in extremely low gestational age newborns. Early Hum Dev. 2009 Nov;85(11):719-25. [PMID: 19765918]
Pasca SP, Dronca E, Kaucsàr T, Craciun EC, Endreffy E, Ferencz BK, Iftene F, Benga I, Cornean R, Banerjee R, Dronca M. One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders. J Cell Mol Med. 2009 Oct;13(10):4229-38. [PMID: 19267885]
Patrianakos-Hoobler AI, Msall ME, Marks JD, Huo D, Schreiber MD. Risk factors affecting school readiness in premature infants with respiratory distress syndrome. Pediatrics. 2009 Jul;124(1):258-67. [PMID: 19564308]
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec;66(6):771-82. [PMID: 20035514]
Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E. Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet. 2009 Mar;46(3):176-82. [PMID: 18349135]
Rosenberg RE, Law JK, Yenokyan G, McGready J, Kaufmann WE, Law PA. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch Pediatr Adolesc Med. 2009 Oct;163(10):907-14. [PMID: 19805709]
Sajdel-Sulkowska EM, Xu M, Koibuchi N. Increase in cerebellar neurotrophin-3 and oxidative stress markers in autism. Cerebellum. 2009 Sep;8(3):366-72. [PMID: 19357934]
Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL. Examination of tetrahydrobiopterin pathway genes in autism. Genes Brain Behav. 2009 Nov;8(8):753-7. [PMID: 19674121]
Sentürk D, Nguyen DV, Tassone F, Hagerman RJ, Carroll RJ, Hagerman PJ. Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data. Biometrics. 2009 Sep;65(3):781-92. [PMID: 19173699]
Shi L, Smith SE, Malkova N, Tse D, Su Y, Patterson PH. Activation of the maternal immune system alters cerebellar development in the offspring. Brain Behav Immun. 2009 Jan;23(1):116-23. [PMID: 18755264]
Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009 Jun;149A(6):1138-48. [PMID: 19441126]
Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol. 2009 Apr;131(1):24-30. [PMID: 19097825]
Sun G, Yan J, Noltner K, Feng J, Li H, Sarkis DA, Sommer SS, Rossi JJ. SNPs in human miRNA genes affect biogenesis and function. RNA. 2009 Sep;15(9):1640-51. [PMID: 19617315]
Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med Genet. 2009 Sep 17;10:93. [PMID: 19761602]
Tozzi AE, Bisiacchi P, Tarantino V, De Mei B, D'Elia L, Chiarotti F, Salmaso S. Neuropsychological performance 10 years after immunization in infancy with thimerosal-containing vaccines. Pediatrics. 2009 Feb;123(2):475-82. [PMID: 19171612]
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28;459(7246):528-33. [PMID: 19404256]
Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 Oct 8;461(7265):802-8. [PMID: 19812673]
Wiest MM, German JB, Harvey DJ, Watkins SM, Hertz-Picciotto I. Plasma fatty acid profiles in autism: a case-control study. Prostaglandins Leukot Essent Fatty Acids. 2009 Apr;80(4):221-7. [PMID: 19307110]
Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA. A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A. 2009 Aug;149A(8):1758-62. [PMID: 19606485]
Witter FR, Zimmerman AW, Reichmann JP, Connors SL. In utero beta 2 adrenergic agonist exposure and adverse neurophysiologic and behavioral outcomes. Am J Obstet Gynecol. 2009 Dec;201(6):553-9. [PMID: 19961985]
Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA, Tager-Flusberg H, Bolliger MF, Carter AS, Boucard AA, Powell CM, Südhof TC. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci. 2009 Sep 2;29(35):10843-54. [PMID: 19726642]
Question 4: Which Treatments and Interventions will Help?
Adams JB, Baral M, Geis E, Mitchell J, Ingram J, Hensley A, Zappia I, Newmark S, Gehn E, Rubin RA, Mitchell K, Bradstreet J, El-Dahr J. Safety and efficacy of oral DMSA therapy for children with autism spectrum disorders: part A--medical results. BMC Clin Pharmacol. 2009 Oct 23;9:16. [PMID: 19852789]
Aman MG, McDougle CJ, Scahill L, Handen B, Arnold LE, Johnson C, Stigler KA, Bearss K, Butter E, Swiezy NB, Sukhodolsky DD, Ramadan Y, Pozdol SL, Nikolov R, Lecavalier L, Kohn AE, Koenig K, Hollway JA, Korzekwa P, Gavaletz A, Mulick JA, Hall KL, Dziura J, Ritz L, Trollinger S, Yu S, Vitiello B, Wagner A; the Research Units on Pediatric Psychopharmacology Autism Network. Medication and parent training in children with pervasive developmental disorders and serious behavior problems: results from a randomized clinical trial. J Am Acad Child Adolesc Psychiatry. 2009 Dec;48(12):1143-1154. [PMID: 19858761]
Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman R. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009 Apr;46(4):266-71. [PMID: 19126569]
Blundell J, Tabuchi K, Bolliger MF, Blaiss CA, Brose N, Liu X, Südhof TC, Powell CM. Increased anxiety-like behavior in mice lacking the inhibitory synapse cell adhesion molecule neuroligin 2. Genes Brain Behav. 2009 Feb;8(1):114-26. [PMID: 19016888]
Correll CU, Manu P, Olshanskiy V, Napolitano B, Kane JM, Malhotra AK. Cardiometabolic risk of second-generation antipsychotic medications during first-time use in children and adolescents. JAMA. 2009 Oct 28;302(16):1765-73. [PMID: 19861668]
Ehrlichman RS, Luminais SN, White SL, Rudnick ND, Ma N, Dow HC, Kreibich AS, Abel T, Brodkin ES, Hahn CG, Siegel SJ. Neuregulin 1 transgenic mice display reduced mismatch negativity, contextual fear conditioning and social interactions. Brain Res. 2009 Oct 19;1294:116-27. [PMID: 19643092]
Etherton MR, Blaiss CA, Powell CM, Südhof TC. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci USA. 2009 Oct 20;106(42):17998-8003. [PMID: 19822762]
Gant JC, Thibault O, Blalock EM, Yang J, Bachstetter A, Kotick J, Schauwecker PE, Hauser KF, Smith GM, Mervis R, Li Y, Barnes GN. Decreased number of interneurons and increased seizures in neuropilin 2 deficient mice: implications for autism and epilepsy. Epilepsia. 2009 Apr;50(4):629-45. [PMID: 18657176]
Hayward D, Eikeseth S, Gale C, Morgan S. Assessing progress during treatment for young children with autism receiving intensive behavioural interventions. Autism. 2009 Nov;13(6):613-33. [PMID: 19933766]
Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA, Soldin SJ, Luu T, Lee NH. Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One. 2009 Jun 3;4(6):e5775. [PMID: 19492049]
Jahromi LB, Kasari CL, McCracken JT, Lee LS, Aman MG, McDougle CJ, Scahill L, Tierney E, Arnold LE, Vitiello B, Ritz L, Witwer A, Kustan E, Ghuman J, Posey DJ. Positive effects of methylphenidate on social communication and self-regulation in children with pervasive developmental disorders and hyperactivity. J Autism Dev Disord. 2009 Mar;39(3):395-404. [PMID: 18752063]
James SJ, Melnyk S, Fuchs G, Reid T, Jernigan S, Pavliv O, Hubanks A, Gaylor DW. Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism. Am J Clin Nutr. 2009 Jan;89(1):425-30. [PMID: 19056591]
Johnson CR, Butter EM, Handen BL, Sukhodolsky DG, Mulick J, Lecavalier L, Aman MG, Arnold LE, Scahill L, Swiezy N, Sacco K, Stigler KA, McDougle CJ. Standardised Observation Analogue Procedure (SOAP) for assessing parent and child behaviours in clinical trials. J Intellect Dev Disabil. 2009 Sep;34(3):230-8. [PMID: 19681003]
King BH, Hollander E, Sikich L, McCracken JT, Scahill L, Bregman JD, Donnelly CL, Anagnostou E, Dukes K, Sullivan L, Hirtz D, Wagner A, Ritz L; STAART Psychopharmacology Network. Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry. 2009 Jun;66(6):583-90. [PMID: 19487623]
Klein JL, Macdonald RF, Vaillancourt G, Ahearn WH, Dube WV. Teaching discrimination of adult gaze direction to children with autism. Res Autism Spectr Disord. 2009 Jan 1;3(1):42-49. [PMID: 20046922]
Koegel RL, Shirotova L, Koegel LK. Brief report: using individualized orienting cues to facilitate first-word acquisition in non-responders with autism. J Autism Dev Disord. 2009 Nov;39(11):1587-92. [PMID: 19488847]
Koegel RL, Vernon TW, Koegel LK. Improving social initiations in young children with autism using reinforcers with embedded social interactions. J Autism Dev Disord. 2009 Sep;39(9):1240-51. [PMID: 19357942]
Laugeson EA, Frankel F, Mogil C, Dillon AR. Parent-assisted social skills training to improve friendships in teens with autism spectrum disorders. J Autism Dev Disord. 2009 Apr;39(4):596-606. [PMID: 19015968]
Mantis JG, Fritz CL, Marsh J, Heinrichs SC, Seyfried TN. Improvement in motor and exploratory behavior in Rett syndrome mice with restricted ketogenic and standard diets. Epilepsy Behav. 2009 Jun;15(2):133-41. [PMID: 19249385]
Meechan DW, Tucker ES, Maynard TM, LaMantia AS. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA. 2009 Sep 22;106(38):16434-45. [PMID: 19805316]
Moy SS, Nadler JJ, Young NB, Nonneman RJ, Grossman AW, Murphy DL, D'Ercole AJ, Crawley JN, Magnuson TR, Lauder JM. Social approach in genetically engineered mouse lines relevant to autism. Genes Brain Behav. 2009 Mar;8(2):129-42. [PMID: 19016890]
Moy SS, Nonneman RJ, Young NB, Demyanenko GP, Maness PF. Impaired sociability and cognitive function in Nrcam-null mice. Behav Brain Res. 2009 Dec 14;205(1):123-31. [PMID: 19540269]
Murawski NJ, Brown KL, Stanton ME. Interstimulus interval (ISI) discrimination of the conditioned eyeblink response in a rodent model of autism. Behav Brain Res. 2009 Jan 23;196(2):297-303. [PMID: 18940202]
Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, Tomonaga S, Watanabe Y, Chung YJ, Banerjee R, Iwamoto K, Kato T, Okazawa M, Yamauchi K, Tanda K, Takao K, Miyakawa T, Bradley A, Takumi T. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell. 2009 Jun 26;137(7):1235-46. [PMID: 19563756]
Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, Carson WH, Findling RL. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics. 2009 Dec;124(6):1533-40. [PMID: 19948625]
Penzner JB, Dudas M, Saito E, Olshanskiy V, Parikh UH, Kapoor S, Chekuri R, Gadaleta D, Avedon J, Sheridan EM, Randell J, Malhotra AK, Kane JM, Correll CU. Lack of effect of stimulant combination with second-generation antipsychotics on weight gain, metabolic changes, prolactin levels, and sedation in youth with clinically relevant aggression or oppositionality. J Child Adolesc Psychopharmacol. 2009 Oct;19(5):563-73. [PMID: 19877981]
Price MG, Yoo JW, Burgess DL, Deng F, Hrachovy RA, Frost JD Jr, Noebels JL. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci. 2009 Jul 8;29(27):8752-63. [PMID: 19587282]
Reed HE, McGrew SG, Artibee K, Surdkya K, Goldman SE, Frank K, Wang L, Malow BA. Parent-based sleep education workshops in autism. J Child Neurol. 2009 Aug;24(8):936-45. [PMID: 19491110]
Rossignol DA, Rossignol LW, Smith S, Schneider C, Logerquist S, Usman A, Neubrander J, Madren EM, Hintz G, Grushkin B, Mumper EA. Hyperbaric treatment for children with autism: a multicenter, randomized, double-blind, controlled trial. BMC Pediatr. 2009 Mar 13;9:21. [PMID: 19284641]
Samaha AL, Vollmer TR, Borrero C, Sloman K, Pipkin CS, Bourret J. Analyses of response-stimulus sequences in descriptive observations. J Appl Behav Anal. 2009 Summer;42(2):447-68. [PMID: 19949537]
Schreibman L, Stahmer AC, Barlett VC, Dufek S. Brief Report: Toward Refinement of a Predictive Behavioral Profile for Treatment Outcome in Children with Autism. Res Autism Spectr Disord. 2009 Jan;3(1):163-172. [PMID: 20046210]
Shanahan NA, Holick Pierz KA, Masten VL, Waeber C, Ansorge M, Gingrich JA, Geyer MA, Hen R, Dulawa SC. Chronic reductions in serotonin transporter function prevent 5-HT1B-induced behavioral effects in mice. Biol Psychiatry. 2009 Mar 1;65(5):401-8. [PMID: 19013555]
Solomon M, Hessl D, Chiu S, Olsen E, Hendren RL. Towards a neurodevelopmental model of clinical case formulation. Psychiatr Clin North Am. 2009 Mar;32(1):199-211. [PMID: 19248925]
Stigler KA, Diener JT, Kohn AE, Li L, Erickson CA, Posey DJ, McDougle CJ. Aripiprazole in pervasive developmental disorder not otherwise specified and Asperger's disorder: a 14-week, prospective, open-label study. J Child Adolesc Psychopharmacol. 2009 Jun;19(3):265-74. [PMID: 19519261]
Suzuki G, Harper KM, Hiramoto T, Funke B, Lee M, Kang G, Buell M, Geyer MA, Kucherlapati R, Morrow B, Männistö PT, Agatsuma S, Hiroi N. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Hum Mol Genet. 2009 Oct 15;18(20):3914-25. [PMID: 19617637]
Suzuki G, Harper KM, Hiramoto T, Sawamura T, Lee M, Kang G, Tanigaki K, Buell M, Geyer MA, Trimble WS, Agatsuma S, Hiroi N. Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice. Hum Mol Genet. 2009 May 1;18(9):1652-60. [PMID: 19240081]
Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, Flannery R, Jaenisch R, Sur M. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA. 2009 Feb 10;106(6):2029-34. [PMID: 19208815]
Veenstra-Vanderweele J, Jessen TN, Thompson BJ, Carter M, Prasad HC, Steiner JA, Sutcliffe JS, Blakely RD. Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse. J Neurodev Disord. 2009 Jun;1(2):158-171. [PMID: 19960097]
Volkmar FR. Citalopram treatment in children with autism spectrum disorders and high levels of repetitive behavior. Arch Gen Psychiatry. 2009 Jun;66(6):581-2. [PMID: 19487622]
Wang L, Simpson HB, Dulawa SC. Assessing the validity of current mouse genetic models of obsessive-compulsive disorder. Behav Pharmacol. 2009 Mar;20(2):119-33. [PMID: 19339874]
Way SW, McKenna J 3rd, Mietzsch U, Reith RM, Wu HC, Gambello MJ. Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. Hum Mol Genet. 2009 Apr 1;18(7):1252-65. [PMID: 19150975]
Wilkinson KM, Rosenquist C, McIlvane WJ. Exclusion learning and emergent symbolic category formation in individuals with severe language impairments and intellectual disabilities. Psychol Rec. 2009 Apr 1;59(2):187. [PMID: 20148195]
Wirojanan J, Jacquemont S, Diaz R, Bacalman S, Anders TF, Hagerman RJ, Goodlin-Jones BL. The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. J Clin Sleep Med. 2009 Apr 15;5(2):145-50. [PMID: 19968048]
Wood JJ, Drahota A, Sze K, Har K, Chiu A, Langer DA. Cognitive behavioral therapy for anxiety in children with autism spectrum disorders: a randomized, controlled trial. J Child Psychol Psychiatry. 2009 Mar;50(3):224-34. [PMID: 19309326]
Wood JJ, Drahota A, Sze K, Van Dyke M, Decker K, Fujii C, Bahng C, Renno P, Hwang WC, Spiker M. Brief report: effects of cognitive behavioral therapy on parent-reported autism symptoms in school-age children with high-functioning autism. J Autism Dev Disord. 2009 Nov;39(11):1608-12. [PMID: 19562475]
Yang M, Clarke AM, Crawley JN. Postnatal lesion evidence against a primary role for the corpus callosum in mouse sociability. Eur J Neurosci. 2009 Apr;29(8):1663-77. [PMID: 19419429]
Yashiro K, Riday TT, Condon KH, Roberts AC, Bernardo DR, Prakash R, Weinberg RJ, Ehlers MD, Philpot BD. Ube3a is required for experience-dependent maturation of the neocortex. Nat Neurosci. 2009 Jun;12(6):777-83. [PMID: 19430469]
Yoshida M, Takayanagi Y, Inoue K, Kimura T, Young LJ, Onaka T, Nishimori K. Evidence that oxytocin exerts anxiolytic effects via oxytocin receptor expressed in serotonergic neurons in mice. J Neurosci. 2009 Feb 18;29(7):2259-71. [PMID: 19228979]
Zang JB, Nosyreva ED, Spencer CM, Volk LJ, Musunuru K, Zhong R, Stone EF, Yuva-Paylor LA, Huber KM, Paylor R, Darnell JC, Darnell RB. A mouse model of the human Fragile X syndrome I304N mutation. PLoS Genet. 2009 Dec;5(12):e1000758. [PMID: 20011099]
Zhang J, Hou L, Klann E, Nelson DL. Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol. 2009 May;101(5):2572-80. [PMID: 19244359]
Zhou J, Blundell J, Ogawa S, Kwon CH, Zhang W, Sinton C, Powell CM, Parada LF. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. J Neurosci. 2009 Feb 11;29(6):1773-83. [PMID: 19211884]
Question 5: Where Can I Turn for Services?
Bouder JN, Spielman S, Mandell DS. Brief report: Quantifying the impact of autism coverage on private insurance premiums. J Autism Dev Disord. 2009 Jun;39(6):953-7. [PMID: 19214727]
Boulet SL, Boyle CA, Schieve LA. Health care use and health and functional impact of developmental disabilities among US children, 1997-2005. Arch Pediatr Adolesc Med. 2009 Jan;163(1):19-26. [PMID: 19124699]
Brookman-Frazee L, Baker-Ericzén M, Stahmer A, Mandell D, Haine RA, Hough RL. Involvement of youths with autism spectrum disorders or intellectual disabilities in multiple public service systems. J Ment Health Res Intellect Disabil. 2009 Jul 1;2(3):201-219. [PMID: 19809531]
Brookman-Frazee L, Garland AF, Taylor R, Zoffness R. Therapists' attitudes towards psychotherapeutic strategies in community-based psychotherapy with children with disruptive behavior problems. Adm Policy Ment Health. 2009 Jan;36(1):1-12. [PMID: 19016320]
Brownlow C, O'Dell L. Representations of autism: implications for community healthcare practice. Community Pract. 2009 Jul;82(7):18-21. [PMID: 19626749]
Golnik A, Ireland M, Borowsky IW. Medical homes for children with autism: a physician survey. Pediatrics. 2009 Mar;123(3):966-71. [PMID: 19255027]
Maenner MJ, Arneson CL, Durkin MS. Socioeconomic disparity in the prevalence of autism spectrum disorder in Wisconsin. WMJ. 2009 Aug;108(5):253-5. [PMID: 19743757]
Montes G, Halterman JS, Magyar CI. Access to and satisfaction with school and community health services for US children with ASD. Pediatrics. 2009 Dec;124 Suppl 4:S407-13. [PMID: 19948606]
Rubin DM, Feudtner C, Localio R, Mandell DS. State variation in psychotropic medication use by foster care children with autism spectrum disorder. Pediatrics. 2009 Aug;124(2):e305-12. [PMID: 19620187]
Stahmer AC, Aarons G. Attitudes toward adoption of evidence-based practices: A comparison of autism early intervention providers and children's mental health providers. Psychol Serv. 2009 Aug;6(3):223-234. [PMID: 21796262]
Question 6: What Does the Future Hold?
Esbensen AJ, Greenberg JS, Seltzer MM, Aman MG. A longitudinal investigation of psychotropic and non-psychotropic medication use among adolescents and adults with autism spectrum disorders. J Autism Dev Disord. 2009 Sep;39(9):1339-49. [PMID: 19434487]
Faja S, Webb SJ, Merkle K, Aylward E, Dawson G. Brief report: face configuration accuracy and processing speed among adults with high-functioning autism spectrum disorders. J Autism Dev Disord. 2009 Mar;39(3):532-8. [PMID: 18751880]
Farley MA, McMahon WM, Fombonne E, Jenson WR, Miller J, Gardner M, Block H, Pingree CB, Ritvo ER, Ritvo RA, Coon H. Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Res. 2009 Apr;2(2):109-18. [PMID: 19455645]
Question 7: Other: Not specific to Strategic Plan questions
Carter AS, Martínez-Pedraza Fde L, Gray SA. Stability and individual change in depressive symptoms among mothers raising young children with ASD: maternal and child correlates.J Clin Psychol. 2009 Dec;65(12):1270-80. [PMID: 19816954]
Ekas NV, Whitman TL, Shivers C. Religiosity, spirituality, and socioemotional functioning in mothers of children with autism spectrum disorder. J Autism Dev Disord. 2009 May;39(5):706-19. [PMID: 19082877]
Estes A, Munson J, Dawson G, Koehler E, Zhou XH, Abbott R. Parenting stress and psychological functioning among mothers of preschool children with autism and developmental delay. Autism. 2009 Jul;13(4):375-87. [PMID: 19535467]
Kao B, Plante W, Lobato D. The use of the Impact on Sibling scale with families of children with chronic illness and developmental disability. Child Care Health Dev. 2009 Jul;35(4):505-9. [PMID: 19250252]
Orsmond GI, Kuo HY, Seltzer MM. Siblings of individuals with an autism spectrum disorder: sibling relationships and wellbeing in adolescence and adulthood. Autism. 2009 Jan;13(1):59-80. [PMID: 19176577]
Orsmond GI, Seltzer MM. Adolescent siblings of individuals with an autism spectrum disorder: testing a diathesis-stress model of sibling well-being. J Autism Dev Disord. 2009 Jul;39(7):1053-65. [PMID: 19291379]
Singh J, Illes J, Lazzeroni L, Hallmayer J. Trends in US autism research funding. J Autism Dev Disord. 2009 May;39(5):788-95. [PMID: 19148735]
About the IACC
The Interagency Autism Coordinating Committee (IACC) was established by Congress under the Combating Autism Act of 2006 (CAA) to provide advice to the Secretary of Health and Human Services (HHS) and coordinate all efforts within HHS concerning autism spectrum disorders (ASD).
As mandated by law, the IACC has a membership composed of federal officials from agencies involved in autism research and services and public members, including people with ASD, parents of children and adults with ASD, and members of the autism advocacy and research community. The diversity of the committee ensures that a broad range of views and opinions is reflected and discussed in a public forum.
Under the CAA, the IACC is required to: (1) Develop and annually update a strategic plan for ASD research, (2) develop and annually update a summary of advances in ASD research, and (3) monitor federal activities related to ASD.
In completing the first IACC Strategic Plan for Autism Spectrum Disorder Research in 2009 and releasing the first update of the plan in 2010, the IACC has laid out a framework for the pursuit of critical biomedical and services research. Through activities such as public meetings and workshops, publication of an annual Summary of Advances in ASD Research, dissemination of information regarding ASD research and IACC activities, gathering of public input and coordination of federal activities related to autism, the IACC continues in its effort to provide guidance to the Department of Health and Human Services and to reach out to the broader autism community to find ways to work together to help people with autism and their families.
IACC Member Roster
Thomas R. Insel, M.D.
National Institute of Mental Health
National Institutes of Health
James F. Battey, M.D., Ph.D.
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
- Linda Birnbaum, Ph.D.
National Institute of Environmental HealthSciences
National Institutes of Health
Research Triangle Park, North Carolina
- Ellen W. Blackwell, M.S.W.
Division of Community and Institutional Services Disabled and Elderly Health Programs Group
Center for Medicaid and State Operations
Centers for Medicare and Medicaid Services
- Henry Claypool
Office on Disability
U.S. Department of Health and Human Services
- Francis S. Collins, M.D., Ph.D.
National Institutes of Health
- Alan E. Guttmacher, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health
- Gail R. Houle, Ph.D.
Associate Division Director Research-to-Practice
Division Early Childhood Programs
Office of Special Education Programs
U.S. Department of Education
- Larke N. Huang, Ph.D.
Senior Advisor on Children Office of the Administrator
Substance Abuse and Mental Health Services
- Jennifer G. Johnson, Ed.D.
Administration on Developmental Disabilities
Administration for Children and Families
- Walter J. Koroshetz, M.D.
National Institute of Neurological
Disorder and Stroke National Institutes of Health
- Edwin Trevathan, M.D., M.P.H.
National Center on Birth Defects and Developmental Disabilities
Centers for Disease Control and Prevention
- Peter van Dyck, M.D., M.P.H.
Associate Administrator Maternal and Child Health
Health Resources and Services Administration
- Lee Grossman
President and CEO
Autism Society of America
- Yvette M. Janvier, M.D.
Children’s Specialized Hospital
Toms River, New Jersey
- Christine M. McKee, J.D.
- Lyn Redwood, R.N., M.S.N.
Co-Founder and Vice President
Coalition for Safe Minds
- Stephen M. Shore, Ed.D.
Autism Spectrum Consulting
- Alison Tepper Singer, M.B.A.
Autism Science Foundation
New York, New York
Office of Autism Research Coordination (OARC) Staff List
- Della M. Hann, Ph.D.
- Susan A. Daniels, Ph.D.
- Erin H. Bryant, M.J.
- David Cabrera, M.S.
NIH Management Intern
- Nicole Jones
- Monica P. Mallampalli, Ph.D.
Science Policy Analyst
- Miguelina Perez
NIH Medical Arts Branch
All material appearing in this report is in the public domain and may be reproduced or copied. A suggested citation follows.
Interagency Autism Coordinating Committee (IACC). 2013 IACC Summary of Advances in Autism Spectrum Disorder Research. April 2014. Retrieved from the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee website: http://iacc.hhs.gov/publications/summary-of-advances/2013/.