Mouse Model of Autism Offers Insights to Human Patients, Potential Drug Targets

Contact: Samiha Khanna Phone: 919-419-5069 Email: samiha.khanna@duke.edu https://www.dukehealth.org EMBARGOED FOR RELEASE until 5 a.m. (ET) on TUESDAY, MAY 10, 2016 DURHAM, N.C. -- A new mouse model of a genetically-linked type of autism reveals more about the role of genes in the disorder and the underlying brain changes associated with autism’s social and learning problems. Scientists at Duke Health who developed the new model also discovered that targeting a brain receptor in mice with this type of autism could ease repetitive behaviors and improve learning in some animals. Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror autism caused by mutations to the SHANK3 gene, Duke researchers are the first to create a mouse in which that gene has been completely eliminated. The total “knockout” of the gene makes the model more effective for studying SHANK3-related autism and Phelan-McDermid syndrome in humans, many of whom are missing the gene completely, said senior author Yong-hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology “This is an important first step in understanding the process of the disorder in humans,” Jiang said. “For many families affected by autism, this is something that could provide hope and potentially lead to a treatment.” SHANK3 is essential to the function of synapses in ...
Source: DukeHealth.org: Duke Health Features - Category: Pediatrics Tags: Duke Medicine Source Type: news

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An experienced trust chief executive has been chosen to lead a national taskforce group charged with improving inpatient mental health, learning disability and autism services for young people.
Source: HSJ - Category: UK Health Source Type: news
DiscussionThe primary outcomes of this study will be evidenced in the anticipated achievement of adolescents ’ personally meaningful social goals following participation in KONTAKT© as compared to the active control group. This design will enable rigorous evaluation of the efficacy of KONTAKT©, exercising control over the possibly confounding effect of exposure to a social context of peers with a diagn osis of ASD.Trial registrationAustralian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12617001117303. Registered on 31 July 2017. anzctr.org.auClinicalTrials.gov,NCT03294668. Registered on 22 September...
Source: Trials - Category: Research Source Type: clinical trials
This week’s Psychology Around the Net takes a look at what to do if you think your child is at risk for mental illness, why self-regulation is so important for people with ADHD, the symptoms of problematic smartphone use, and the mental and physical fatigue that often accompanies chronic illness, and more.     Does Mental Illness Run in Families?: What should you do if you suspect your child is at risk of developing a mental disorder — especially when mental illness runs in your family? According to psychologist Scott Bea PsyD, an important first step is helping your child build resilience, a persona...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: ADHD and ADD Anxiety and Panic Autism Children and Teens Depression Disorders Family General Health-related Mental Health and Wellness Parenting Psychiatry Psychology Psychology Around the Net Research Asd Bipolar Disorder Source Type: blogs
AbstractMajor psychiatric traits are genetically inter-correlated with one another, but it not well known which genes play pleiotropic effects across different traits. We curated and compared genes identified from large-scale genome-wide association studies for seven psychiatric traits, including depression, bipolar disorder, schizophrenia, autism spectrum disorder, attention-deficit/hyperactivity disorder, anxiety and neuroticism. We then explored biological functions of the top pleiotropic genes. A total of 243 cross-trait genes were identified for the seven traits. Except for autism spectrum disorder, there was signific...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 5 December 2019Source: Brain, Behavior, and ImmunityAuthor(s): Alexandra Ramirez-Celis, Elizabeth Edmiston, Joseph Schauer, Tam Vu, Judy Van de WaterAbstractAutism spectrum disorder (ASD) is an important health issue and affects 1 in 59 children in the US. Prior studies determined that maternal autoantibody related (MAR) autism is thought to be associated with ∼23% of ASD cases. We previously identified seven MAR-specific autoantigens including CRMP1, CRMP2, GDA, LDHA, LDHB, STIP1, and YBX1. We subsequently described the epitope peptide sequences recognized by maternal autoantibodies ...
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: Available online 5 December 2019Source: NeuronAuthor(s): Sehyoun Yoon, Euan Parnell, Maria Kasherman, Marc P. Forrest, Kristoffer Myczek, Susitha Premarathne, Michelle C. Sanchez Vega, Michael Piper, Thomas H.J. Burne, Lachlan A. Jolly, Stephen A. Wood, Peter PenzesSummaryVariants in the ANK3 gene encoding ankyrin-G are associated with neurodevelopmental disorders, including intellectual disability, autism, schizophrenia, and bipolar disorder. However, no upstream regulators of ankyrin-G at synapses are known. Here, we show that ankyrin-G interacts with Usp9X, a neurodevelopmental-disorder-assoc...
Source: Neuron - Category: Neuroscience Source Type: research
We examined whole-brain brain functional correlations (FC) and behavioral regulation through connectome predictive modelling (CPM). CPM is a data-driven protocol for developing predictive models of brain–behavior relationships and assessing their potential as ‘neuromarkers’ using cross-validation. The data stems from the ABIDE II and comprises 276 children with and without ASD (8-13 years).We identified networks whose FC predicted individual differences in behavioral regulation. These network models predicted novel individuals’ inhibition and shifting from FC data in both a leave-one-out, and split ...
Source: Developmental Cognitive Neuroscience - Category: Neuroscience Source Type: research
The objective of this study was to compare the reported frequency of physical activity and covariates in a large sample of children with ASD with children of similar age from the general population. The sample with ASD was derived from the Autism Treatment Network Registry Call Back Assessment (n = 611), and the general population data were derived from the National Survey of Children’s Health (NSCH) (n = 71,811). In addition, demographic, child, and family (parent) factors were examined in relation to frequency of recent physical activity in children with ASD. Among males in the 6−11 year-old age group, those ...
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
Authors: Washington P, Paskov KM, Kalantarian H, Stockham N, Voss C, Kline A, Patnaik R, Chrisman B, Varma M, Tariq Q, Dunlap K, Schwartz J, Haber N, Wall DP Abstract Autism Spectrum Disorder (ASD) is a complex neuropsychiatric condition with a highly heterogeneous phenotype. Following the work of Duda et al., which uses a reduced feature set from the Social Responsiveness Scale, Second Edition (SRS) to distinguish ASD from ADHD, we performed item-level question selection on answers to the SRS to determine whether ASD can be distinguished from non-ASD using a similarly small subset of questions. To explore feature ...
Source: Pacific Symposium on Biocomputing - Category: Bioinformatics Tags: Pac Symp Biocomput Source Type: research
(University of Maryland School of Medicine) The University of Maryland School of Medicine (UMSOM), University of Maryland Medical Center (UMMC), and the Tuberous Sclerosis Alliance (TS Alliance) have joined together to launch first-of-a-kind centers in Maryland to treat adults with neurodevelopmental disabilities, such as autism.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
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