0 comments on “Identification of genes regulating GABAergic interneuron maturation.”

Identification of genes regulating GABAergic interneuron maturation.


During embryonic development, GABAergic interneurons, a main inhibitory component in the cerebral cortex, migrate tangentially from the ganglionic eminence (GE) to cerebral cortex. After reaching the cerebral cortex, they start to extend their neurites for constructing local neuronal circuits around the neonatal stage. Aberrations in migration or neurite outgrowth are implicated in neurological and psychiatric disorders such as epilepsy, schizophrenia and autism. Previous studies revealed that in the early phase of cortical development the neural population migrates tangentially from the GE in the telencephalon and several genes have been characterized as regulators of migration and specification of GABAergic interneurons. However, much less is known about the molecular mechanisms of GABAergic interneurons-specific maturation at later stages of development. Here, we performed genome-wide screening to identify genes related to the later stage by flow cytometry based-microarray (FACS-array) and identified 247 genes expressed in cortical GABAergic interneurons. Among them, Dgkg, a member of diacylglycerol kinase family, was further analyzed. Correlational analysis revealed that Dgkg is dominantly expressed in somatostatin (SST)-expressing GABAergic interneurons. The functional study of Dgkg using GE neurons indicated alteration in neurite outgrowth of GABAergic neurons. This study shows a new functional role for Dgkg in GABAergic interneurons as well as the identification of other candidate genes for their maturation.

0 comments on “Anxiety-related symptomatology in young children on the autism spectrum.”

Anxiety-related symptomatology in young children on the autism spectrum.


Anxiety symptomatology is frequently reported in autistic children, and the prevalence of anxiety disorder is estimated at around 40%. However, most studies have focused upon children of age 8 years or above, so little is known about early signs of anxiety in younger children with autism. This study sought to describe anxiety-related symptomatology in 95 5- to 6-year-old autistic children using the Anxiety Scale for Children with Autism Spectrum Disorder. Wide variability was found in levels of symptomatology with the most frequently reported items within the ‘uncertainty’ subscale and the least frequently reported items in the ‘anxious arousal’ subscale. Comparisons of those with scores less than or greater than 70 on adaptive behaviour suggests some influence of ability on presentation of anxiety-related symptomatology.

Interprofessional Collaboration of Dental Hygiene and Communication Sciences & Disorders Students to Meet Oral Health Needs of Children with Autism.



This pilot project was intended to introduce an authentic interprofessional education experience with students from Communication Sciences & Disorders (CSD) and Dental Hygiene (DH) to develop and apply strategies to assist children diagnosed with autism spectrum disorder (ASD) to decrease their anxiety and improve their ability to participate in an oral screening and prophylaxis appointment. The second purpose was for students to learn each other’s scope of practice.


Four children diagnosed with ASD were identified as having dental anxiety and unmet dental needs. The students collaborated to develop visual support strategies to support the implementation of an oral screening and prophylaxis.


Three participants were able to participate in the oral screening, instruction for brushing teeth, and prophylaxis. The students reported having a better understanding of each other’s roles and responsibilities and feeling more confident working with a child with ASD.


The DH students were better able to identify the characteristics associated with ASD and to develop and use visual supports to assist children with ASD control anxiety during dental prophylaxis procedures. The CSD students learned techniques that hygienists use and how to help parents prepare their children for dental hygiene treatments.

NS-Pten knockout mice show sex- and age-specific differences in ultrasonic vocalizations.



The goal of this study was to identify changes in quantitative and qualitative aspects of neonatal ultrasonic vocalizations USVs in neuron-subset specific (NS-Pten) knockout males and females when compared with wild-type male and female mice.


One signaling cascade that plays a crucial role in the development of an autistic-like phenotype is the PI3K/Akt/mTOR pathway. Mouse models that illustrate this connection include Fmr1, Tsc1, and NS-Pten-deficient mice. While numerous studies have investigated ultrasonic vocalizations in Fmr1 knockout and Tsc1 heterogenous mice, none have investigated USVs in NS-Pten knockout mice using a full spectrum recording system.


We recorded ultrasonic vocalizations from NS-Pten wild-type and knockout male and female mice on postnatal days 8 and 11. On these days, we measured the number and quality of calls emitted from pups when they were removed from their mothers.


We found that knockout pups emitted fewer vocalizations for both sexes (< .05). Knockout males had calls of a shorter duration and lower peak amplitude on day 8, while showing a shorter duration, lower peak amplitude, and higher peak and fundamental frequency on day 11 (< .001). Knockout females vocalized at a lower peak amplitude and fundamental frequency, and a higher peak frequency on day 8, while showing a shorter duration and a higher peak and fundamental frequency on day 11 (< .001). Spectrographic analyses also revealed significant differences in call type for both genotypes and sexes (< .05).


These findings demonstrate that deletion of NS-Pten results in significant decreases in vocalizations across both sexes. Additionally, our findings indicate that the aberrant vocalizations and increased call duration seen in other mTOR models are also present in NS-Pten knockout mice. Our study provides evidence of a connection between hyperactive mTOR signaling and neonatal ultrasonic vocalizations.

Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress.


Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.

Graph theoretical approaches towards understanding differences in frontoparietal and default mode networks in Autism.


Autism Spectrum Disorder is a complex developmental disorder affecting 1 in 68 children in the United States. While the prevalence may be on the rise, we currently lack a firm understanding of the etiology of the disease, and diagnosis is made purely on behavioral observation and informant report. As one method to improve our understanding of the disease, the current study took a systems-level approach by assessing the causal interactions among the frontoparietal and default mode networks using structural covariance of a large Autism dataset. Although preliminary, we report diffuse yet subtle changes throughout these networks when comparing age and sex matched controls to ASD patients.

Brain Sexual Differentiation and Requirement of SRY: Why or Why Not?


Brain sexual differentiation is orchestrated by precise coordination of sex steroid hormones. In some species, programming of select male brain regions is dependent upon aromatization of testosterone to estrogen. In mammals, these hormones surge during the organizational and activational periods that occur during perinatal development and adulthood, respectively. In various fish and reptiles, incubation temperature during a critical embryonic period results in male or female sexual differentiation, but this can be overridden in males by early exposure to estrogenic chemicals. Testes development in mammals requires a Y chromosome and testis determining gene SRY (in humans)/Sry (all other therian mammals), although there are notable exceptions. Two species of spiny rats: Amami spiny rat (Tokudaia osimensis) and Tokunoshima spiny rat (Tokudaia tokunoshimensis) and two species of mole voles (Ellobius lutescens and Ellobius tancrei), lack a Y chromosome/Sry and possess an XO chromosome system in both sexes. Such rodent species, prototherians (monotremes, who also lack Sry), and fish and reptile species that demonstrate temperature sex determination (TSD) seemingly call into question the requirement of Sry for brain sexual differentiation. This review will consider brain regions expressing SRY/Sry in humans and rodents, respectively, and potential roles of SRY/Sry in the brain will be discussed. The evidence from various taxa disputing the requirement of Sry for brain sexual differentiation in mammals (therians and prototherians) and certain fish and reptilian species will be examined. A comparative approach to address this question may elucidate other genes, pathways, and epigenetic modifications stimulating brain sexual differentiation in vertebrate species, including humans.

0 comments on “NIEHS Autism and the Environment Research”

NIEHS Autism and the Environment Research

The National Institute of Environmental Health Sciences (NIEHS) hosted a virtual forum on autism and the environment. The panel of experts took questions during the live broadcast which lasted just under one hour.

Expert Panel Speakers:

Linda S. Birnbaum, Ph.D., became the Director of the National Institute of Environmental Health Sciences (NIEHS), one of the National Institutes of Health (NIH), and the National Toxicology Program (NTP) on January 18, 2009 . In these roles Birnbaum oversees federal funding for biomedical research to discover how the environment influences human health and disease. Several advisory boards and councils provide Birnbaum and NIEHS/ NTP staff with input to accomplish this large task.

Alan Brown, M.D., M.P.H. is a psychiatrist and epidemiologist at Columbia University who specializes in the epidemiology of neurodevelopmental risk factors for autism, schizophrenia and bipolar disorder. A key focus of his work is on biomarker-based in utero and early childhood exposures that are prospectively documented in large population-based birth cohorts. These include a Finnish national birth cohort of 1.5 million pregnancies, from which he developed the Finnish Prenatal Study of Autism (FiPS-A), which has yielded novel findings. They were the first to demonstrate that elevated maternal levels of the inflammatory biomarker C-reactive protein (CRP) during pregnancy was associated with autism in offspring. They’ve also demonstrated associations between autism and maternal persistent organic pollutants, smoking, several perinatal events, and elevated growth velocity of head circumference during infancy. In present and future work, he is examining relationships between other toxic and infectious/immune maternal biomarkers, quantified in maternal sera during pregnancy, and autism. They’ve also assessed the specificity of these risk factors by investigating their relationship to schizophrenia and bipolar disorder and their neuroanatomic and neuropsychological correlates.

Irva Hertz-Picciotto, Ph.D., is an epidemiology professor at UC Davis MIND Institute, and chief of the environmental and Occupational Health. She is an internationally renowned environmental epidemiologist with over 250 scientific publications addressing environmental exposures, including metals, pesticides, air pollutants and endocrine disruptors, their interactions with nutrition, and their influences on pregnancy, the newborn, and child development. In 2002, she turned her attention to autism, launching the CHARGE Study, the first large, comprehensive population-based study of how environmental exposures influence autism, which has led to key discoveries of both risk and protective factors. A few years later she launched MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), to search for early environmental and biologic predictors of autism, the first such study to begin in pregnancy. She also collaborates on the multi-site EARLI study, and was Director of the Northern California Center for the National Children’s Study.

Dr. Hertz-Picciotto sits on editorial boards for four major scientific journals in epidemiology, environmental health, and autism, has held appointments on state, national and international advisory panels to organizations such as the Food Safety in Europe Working Group, U.S. Environmental Protection Agency, National Toxicology Program, California Air Resources Board, and NIH Interagency Coordinating Committee on Autism Research, and served as President of two of the largest professional epidemiology societies. She chaired the Expert Panel on CDC’s Vaccine Safety Database for Studies of Autism and Thimerosal and two National Academy of Sciences/Institute of Medicine (IOM) Panels, including two on Agent Orange and Vietnam Veterans and in 2011, the IOM Committee on Breast Cancer and the Environment. Dr. Hertz-Picciotto has taught epidemiologic methods on four continents and mentored over 60 doctoral and postdoctoral scholars.

Cindy Lawler, Ph.D., is acting chief of the Cellular, Organs, and Systems Pathobiology Branch in the Division of Extramural Research and Training. She is the lead NIEHS representative for extramural autism activities. This includes responsibilities as a program official for the NIH-funded Early Autism Risk Longitudinal Investigation (EARLI) study, the Childhood Autism Risk from Genes and Environment (CHARGE) study, the Markers of Autism Risk in Babies-Learning Early Signs (MARBLES), and a multidisciplinary center that addresses environmental contributors to autism.

In addition to her programmatic role in autism activities, Lawler has primary responsibility for the NIEHS extramural portfolio of research in Parkinson’s disease research. She developed and manages the Centers for Neurodegeneration Science Program, which supports highly integrated teams of investigators studying genetic and environmental risks for Parkinson’s disease.

Lawler received her Ph.D. in experimental psychology at Northeastern University and received postdoctoral training in the Brain and Development Research Center at the University of North Carolina at Chapel Hill (UNC-CH).  Prior to joining NIEHS, Lawler was a faculty member in the UNC-CH Department of Psychiatry and the Program in Toxicology and held an adjunct appointment in the Department of Biostatistics. She served as a Principal Investigator on an NIH-supported research grant in behavioral neuroscience, with an emphasis on dopamine receptor pharmacology and development of novel pharmacologic agents to treat diseases and disorders related to altered dopamine neurotransmission.

Avi Reichenberg , Ph.D., is a neuropsychologist and epidemiologist. He is professor of Preventive Medicine and Psychiatry at the Ichan School of Medicine at Mount Sinai in New York, and a Senior Fellow of the Seaver Center for Autism Research and Treatment, New York. His research focuses on understanding how environmental and genetic factors contribute to the etiology of developmental disorders, particularly autism.

Heather E. Volk, Ph.D., M.P.H., is assistant professor of research in the Division of Environmental Health in the Department of Preventive Medicine at the Keck School of Medicine, and a Principal Investigator in the Saban Research Institute at Children’s Hospital Los Angeles.  Her research focuses on the genetic and environmental epidemiology of autism and other neurodevelopmental disorders, as well as more generally on the role of gene-environment interaction in complex disease. Dr. Volk is a graduate of the University Notre Dame and received a Masters in Public Health, concentrating in Epidemiology and Biostatistics, from Boston University, and a doctorate in Public Health Studies, concentrating in Epidemiology, from St. Louis University.  She completed a postdoctoral fellowship in environmental genomics at the University of Southern California.




0 comments on “Autism Research Looks For Autism Brains”

Autism Research Looks For Autism Brains

John Elder Robison, who is an adult with autism, introduces an initiative to study the brains of people on the autism spectrum. Mr. Robison called for those in the autism community who feel offended by attempts to “cure” autism to support autism research and this autism brain initiative. Autism Speaks, the Simons Foundation and the Autism Science Foundation created the initiative known as “It Takes Brains”.

1 comment on “The CDC Grand Rounds Public Session on Autism”

The CDC Grand Rounds Public Session on Autism

The April 2014 Centers for Disease Control and Prevention Grand Rounds Public Session. Autism spectrum disorder (ASD) is a group of developmental disabilities that can cause significant social, communication and behavioral challenges. Prevalence of autism, according to the CDC have increased twenty-to thirty-fold since studies forty-fifty years ago.

According to Dr. Tim Frieden, director the the CDC, we know far more today about autism spectrum disorder then we have in the past and the one important thing we (the CDC) have learned is the importance of early diagnoses and intervention. The tracking and diagnoses of ASD can be difficult since there is of yet no biological marker and due to the diagnostic criterion recently changing. Many people with an autism spectrum disorder do not get diagnosed until age four.

This approximately one hour video features guest speakers:

Julie Daniels, MPH, PHD who is an Associate Professor of Epidemiology & Maternal and Child Health.

Jon Baios, EdS who is a behavioral Scientist in the Developmental Disabilities Branch Division of Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention.

Susan L. Hyman, MD who is the Division Chief at the Neurodevelopmental and Behavioral Pediatrics Golisano Childrens Hospital.

Samuel L Odom, PHD who is the Director at Frank Porter Graham Child Development Institute at the University of North Carolina in Chapel Hill.

At 51:00 minutes into this video the four guest speakers take questions from participants of the CDC autism presentation.


0 comments on “Autism Behavior to Biology”

Autism Behavior to Biology

Dr. Robin Hansen is the Director of Clinical Programs at the UC Davis MIND Institute in California and in this lecture she explains the etiological heterogeneity of autism spectrum disorders and gives a review of contemporary autism research. She covers a variety of behaviors seen in autism and correlates them with the biology. Autism Spectrum Disorders are a group of disorders, overall exhibiting a complex and wide variability of symptoms that point to multiple etiologies that share similar core behavioral symptomatology.