Autism Research Program
Autism Research Program
News Article | April 17, 2017
COLUMBIA, Mo. - More than 3 million people in the United States are estimated to have an autism spectrum disorder diagnosis and annual diagnosis rates continue to rise. Researchers from the University of Missouri have found when teenagers and young adults with autism enter adulthood and age out of many of the services designed to help them, they often are anxious about how to handle new adult responsibilities such as paying bills and filing taxes. These findings highlight the importance of incorporating financial management into early education to empower young adults with autism. Nancy Cheak-Zamora, assistant professor in the School of Health Professions, led a research team that conducted interviews with individuals with autism between 16 and 25 years old. Through the interviews, the researchers identified common themes regarding adulthood and financial skills. "Most of the participants saw a definite association between adulthood and handling money," Cheak-Zamora said. "Participants agreed that independence required managing finances and all expressed frustration in their own abilities when it came to knowing how to handle and use money. According to the participants, the lack of financial skills has serious consequences on their ability to assume adult responsibilities." This new research highlights the importance of implementing financial management programs early and tailoring them to the specific needs of people on the autism spectrum. Researchers suggest that financial management and literacy need to become an integral part of social services and education. "Despite the importance of financial autonomy and the increased independence that comes from understanding money, financial management and decision-making often are seen as outside the purview of professionals working with young people with autism," said Clark Peters, co-author of the study and associate professor in the MU School of Social Work. "Educational programs that include financial literacy in both schools and independent living programs could increase autonomy and quality of life for people with autism." Cheak-Zamora and Peters suggest that parents and caregivers can help by providing skills and encouragement. They say helping children with autism pay for items at a store and setting up bank accounts can provide the confidence needed to understand financial matters. They also suggest that financial institutions should play a role in helping customers with special needs, such as providing dedicated phone lines to assist consumers. "Financial capabilities among youth with autism spectrum disorder," recently was published in the Journal of Child and Family Studies. Michelle Teti, associate professor of health sciences, and Anna Maurer-Batjer, a graduate student in the School of Social Work also co-authored the study. Research was supported by the U.S. Army Medical Research Acquisition Activity and the Assistant Secretary of Defense for Health Affairs through the Autism Research Program. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.
Noor A.,Center for Addiction and Mental Health |
Whibley A.,University of Cambridge |
Whibley A.,French Natural History Museum |
Marshall C.R.,Applied Genomics |
And 64 more authors.
Science Translational Medicine | Year: 2010
Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found in two brothers, one with ASD and the other with a learning disability and ASD features; a 90-kilobase microdeletion spanning the entire gene was found in three males with intellectual disability in a second family. In 900 probands with ASD and 208 male probands with intellectual disability, we identified seven different missense changes (in eight male probands) that were inherited from unaffected mothers and not found in controls. Two of the ASD individuals with missense changes also carried a de novo deletion at another ASD susceptibility locus (DPYD and DPP6), suggesting complex genetic contributions. In additional males with ASD, we identified deletions in the 5′ flanking region of PTCHD1 that disrupted a complex noncoding RNA and potential regulatory elements; equivalent changes were not found in male control individuals. Thus, our systematic screen of PTCHD1 and its 5′ flanking regions suggests that this locus is involved in ∼1% of individuals with ASD and intellectual disability.
News Article | November 15, 2016
OAKLAND, Calif., Nov. 15, 2016 - Kaiser Permanente researchers have received a major new grant from the National Institutes of Health to study how exposures to environmental chemicals during pregnancy may influence the risk of obesity and neurodevelopmental disorders in children. Twenty percent of U.S. children are now considered obese and 15 percent have developmental impairments in physical, learning, language, or behavior areas, according to the Centers for Disease Control and Prevention. "This research will explore how in-womb exposure to chemicals in the environment affects normal growth and development by changing the metabolism of glucose and thyroid hormones, both of which regulate infant growth and neurodevelopment," said Assiamira Ferrara, MD, PhD, principal investigator of the new study and associate director of women's and children's health at the Kaiser Permanente Northern California Division of Research. The new Kaiser Permanente study is part of the Environmental Influences on Child Health Outcomes research program, known as ECHO. It will use existing research study cohort populations around the nation to investigate how exposure to a range of environmental factors in early development -- from conception through early childhood -- influences the health of children and adolescents. The proposed seven-year study will launch with $3.25 million in initial NIH funding over the first two years, with an estimated total cost of $24 million. The ECHO program encompasses a total of $144 million in NIH grants. "Every baby should have the best opportunity to remain healthy and thrive throughout childhood," said NIH Director Francis S. Collins, MD, PhD. "ECHO will help us better understand the factors that contribute to optimal health in children." Kaiser Permanente investigators will focus on in utero exposures to endocrine-disrupting chemicals -- including perfluoroalkyl substances (or PFAs), polybrominated ethers (PBDEs), and organophosphate flame retardants (OPFRs) -- which are found in many common household and personal products, plastics and furniture. "Several of these types of chemicals are persistent in the environment and can be measured in human tissue such as blood and urine," said Lisa A. Croen, PhD, co-principal investigator and director of Kaiser Permanente's Autism Research Program. Researchers will ask women who participated in two existing Kaiser Permanente pregnancy cohorts -- the Pregnancy and Environment Lifestyle Study (funded by the National Institute of Environmental Health Sciences and led by Dr. Ferrara) and the Kaiser Permanente Research Bank Pregnancy Cohort (funded by Kaiser Permanente and led by Croen) -- to join the study, along with their young children. "The new study would not have been possible without years of previous groundwork at the Division of Research and the resources of the Kaiser Permanente Research Bank, as well as the support of clinicians throughout Kaiser Permanente in Northern California," said Tracy A. Lieu, MD, MPH, director of the Division of Research. Dr. Ferrara noted that this research could lead to policy changes to protect children from environmental exposures in the future. "Since the use of environmental chemicals is potentially modifiable, results from the study may help to inform national environmental and public health agencies regarding policies to further regulate the production of these chemicals and inform the public regarding the restriction of their use," she said. Concerned about increasing levels of potentially harmful chemicals in the environment, Kaiser Permanente earlier this year advanced its longstanding environmental-stewardship commitment by announcing new and ambitious goals for the year 2025 that include, among other things, aiming to increase its purchase of products and materials that meet environmental standards to 50 percent. Co-investigators of the study include Stacey Alexeeff, PhD, Lyndsay Ammon Avalos, PhD, MPH, Monique M. Hedderson, PhD, Lawrence H. Kushi, ScD, and Charles P. Quesenberry, PhD, of the Kaiser Permanente Division of Research. About the Kaiser Permanente Division of Research The Kaiser Permanente Division of Research conducts, publishes and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and society at large. It seeks to understand the determinants of illness and well-being, and to improve the quality and cost-effectiveness of health care. Currently, DOR's 550-plus staff is working on more than 250 epidemiological and health services research projects. For more information, visit http://www. or follow us @KPDOR. The Kaiser Permanente Research Bank is a core resource within Kaiser Permanente that collects and stores high-quality biospecimens and data from the electronic health record to enable translational research in genomics and related areas with the end goal of advancing knowledge for the prevention, diagnosis, treatment and management of disease that benefits its members. The KP Research Bank's goal is to advance research innovation and contribute to personalized medicine. Using this resource, Kaiser Permanente investigators and external collaborators are conducting research on factors that influence health and disease. Enrollment of Kaiser Permanente members into the KP Research Bank involves providing informed consent, filling out a survey and donating a small sample of blood. Participation is completely voluntary and doesn't affect one's health coverage. Learn more at kp.org/researchbank. Kaiser Permanente is committed to helping shape the future of health care. We are recognized as one of America's leading health care providers and not-for-profit health plans. Founded in 1945, Kaiser Permanente has a mission to provide high-quality, affordable health care services and to improve the health of our members and the communities we serve. We currently serve more than 10.6 million members in eight states and the District of Columbia. Care for members and patients is focused on their total health and guided by their personal physicians, specialists and team of caregivers. Our expert and caring medical teams are empowered and supported by industry-leading technology advances and tools for health promotion, disease prevention, state-of-the-art care delivery and world-class chronic disease management. Kaiser Permanente is dedicated to care innovations, clinical research, health education and the support of community health. For more information, go to: kp.org/share.
Liu X.,Queen's University |
Liu X.,Autism Research Program |
Liu X.,Autism Spectrum Disorders Canadian American Research Consortium |
Malenfant P.,Autism Research Program |
And 28 more authors.
European Journal of Human Genetics | Year: 2011
Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder - Canadian American Research Consortium (ASD-CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Societ Italiana per la Ricerca e la Formazione sullAutismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P FDR)1.29 × 10 5), the AGRE cohort (P FDR 0.0011) and the combined families (P FDR 2.34 × 10 9). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P FDR 8.65 × 10 7 and 6.07 × 10 5, respectively), AGRE cohort (P FDR 0.0034 and 0.015, respectively) and the combined families (P FDR 2.34 × 10 9 and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (P FDR 2.63 × 10 11) was found for the rs2018650G-rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values 0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region. © 2011 Macmillan Publishers Limited All rights reserved.
Kloosterman P.H.,Trent University |
Summerfeldt L.J.,Trent University |
Parker J.D.A.,Trent University |
Holden J.J.A.,Queen's University |
Holden J.J.A.,Autism Research Program
Journal of Obsessive-Compulsive and Related Disorders | Year: 2013
The obsessive-compulsive behaviors central to Obsessive-Compulsive Disorder (OCD) are not uncommon in Autism Spectrum Disorders (ASD), however the association between these disorders is not yet clear. One construct which may be useful in delineating their overlapping characteristics is "Incompleteness" or a sense of things feeling "not just right". Incompleteness has been related to a constellation of symptoms in OCD, but its association with ASD has not yet been examined. In this study parents with two or more children with ASD (P-MC) (n=115) were compared to an independent sample of parents having a single child with an ASD (P-SC), matched by age and gender, on level of Incompleteness. Results indicate that P-MC parents scored significantly higher in Incompleteness than P-SC parents. Incompleteness scores were also associated with a profile of behaviors in their children with ASD (n=357) characterized by high scores on the empirically derived repetitive sensory motor actions and resistance to change domains of the Autism Diagnostic Interview-Revised (Cuccaro et al., 2003). We discuss the implications of Incompleteness found in parents of children with an ASD, as well as its utility as a possible endophenotype for both ASD and OCD. © 2013 Elsevier Ltd.