Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors

The precise regulation of synaptic dopamine (DA) content by the DA transporter (DAT) ensures the phasic nature of the DA signal, which underlies the ability of DA to encode reward prediction error, thereby driving motivation, attention, and behavioral learning. Disruptions to the DA system are implicated in a number of neuropsychiatric disorders, including attention deficit hyperactivity disorder (ADHD) and, more recently, autism spectrum disorder (ASD). An ASD-associated de novo mutation in the SLC6A3 gene resulting in a threonine-to-methionine substitution at site 356 (DAT T356M) was recently identified and has been shown to drive persistent reverse transport of DA (i.e., anomalous DA efflux) in transfected cells and to drive hyperlocomotion in Drosophila melanogaster. A corresponding mutation in the leucine transporter, a DAT-homologous transporter, promotes an outward-facing transporter conformation upon substrate binding, a conformation possibly underlying anomalous DA efflux. Here, we investigated in vivo the impact of this ASD-associated mutation on DA signaling and ASD-associated behaviors. We found that mice homozygous for this mutation displayed impaired striatal DA neurotransmission and altered DA-dependent behaviors that correspond with some of the behavioral phenotypes observed in ASD.
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research

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Conclusion: the heterogeneity of auditory training techniques diversified the results. However, it seems there is a potential for recommending auditory training in the reviewed population.RESUMO Objetivo: identificar as abordagens de treinamento auditivo utilizadas na popula ção infantil com diagnósticos psiquiátricos, caracterizar os contextos de intervenção, protocolos e discernimento dos desfechos. Métodos: busca realizada em quatro bases de dados, utilizando as expressões fixas “ auditory training ” OR “ auditory rehabilitation ” e, quanto ...
Source: Revista CEFAC - Category: Speech-Language Pathology Source Type: research
Abstract Internet addiction (IA) has been reported as prevalent in adolescents with autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD). However, the course of IA in this population has not been elucidated. The authors performed a 2-year follow-up study including 89 out of 132 adolescents with ASD and/or ADHD in a psychiatric clinical setting who participated in the original cross-sectional study assessing IA prevalence. Within this sample of participants from both the original and the follow-up study, results showed a 2-year IA remission and incidence rate of 60% and 5%, respective...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Publication date: Available online 10 August 2019Source: SeizureAuthor(s): Colin Reilly, Patricia Atkinson, Ayesha Memon, Chloe Jones, Lyvia Dabydeen, J. Helen Cross, Krishna B. Das, Christopher Gillberg, Brian G.R. Neville, Rod C. ScottAbstractPurposeTo provide data on the prevalence of Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and parent reported behaviour difficulties in young children with epilepsy, and to compare results with children with neurodisability (neurodevelopmental/neurological difficulties) without epilepsy.MethodChildren with epilepsy (1-7 years, n = 48)...
Source: Seizure - Category: Neurology Source Type: research
(Natural News) Experts say there are over 600 disorders of the nervous system. These include epilepsy, brain tumors, cerebral palsy, attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD), among others. Many of these emerge during childhood, and some can be diagnosed at birth. Oriental herbal medicine has been widely used in treating neurological disorders...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
Publication date: Available online 5 August 2019Source: The Lancet PsychiatryAuthor(s): Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van AmelsvoortSummary22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial ...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
Source: Neuropsychiatric Disease and Treatment - Category: Psychiatry Tags: Neuropsychiatric Disease and Treatment Source Type: research
FINDINGSAn international study led by researchers from the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA has found that people who are born with a genetic disease that greatly increases the risk of developing schizophrenia  have distinctive defects and deficiencies in the white matter of their brains. Researchers compared the brains of people with the genetic disorder, 22q11.2 deletion syndrome, to the brains of healthy people and to the brains of people with the disease who do not have schizophrenia.The brain ’s white matter connects different regions of the brain and...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
CONCLUSIONS: In this study of maternal urinary DAP metabolite concentrations during pregnancy, we did not observe associations with ADHD and autistic traits in children. These are important null observations because of the relatively high background DAP concentrations across pregnancy, the relatively large sample size, and the 10-year follow-up of the offspring. Given the measurement error inherent in our OP pesticide exposure biomarkers, future studies using more urine samples are needed to accurately measure OP pesticide exposure over pregnancy in relation to ADHD and autistic traits. PMID: 31369979 [PubMed - as supplied by publisher]
Source: Environment International - Category: Environmental Health Authors: Tags: Environ Int Source Type: research
Abstract Neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable and influenced by many single nucleotide polymorphisms (SNPs). SNPs can be used to calculate individual polygenic risk scores (PRS) for a disorder. We aim to explore the association between the PRS for ADHD, ASD and for Schizophrenia (SCZ), and ADHD and ASD diagnoses in a clinical child and adolescent population. Based on the most recent genome wide association studies of ADHD, ASD and SCZ, PRS of each disorder were calculated for individuals of a clinical child and ...
Source: Behavior Genetics - Category: Genetics & Stem Cells Authors: Tags: Behav Genet Source Type: research
Abstract The Tower of London (TOL) is probably the most often used assessment tool for planning ability in healthy and clinical samples. Various versions, including our proposed standard problem set, have proven to be feasible and reliable in adults. In contrast, reliability information for typically developing (TD) children and neurodevelopmental disorders during childhood are largely missing. Also, it would be highly desirable to attain a problem set that can be used across the whole lifespan. Therefore, here we examine reliability of our proposed standard problem set using a computerized TOL version in 178 TD c...
Source: Child Neuropsychology - Category: Child Development Authors: Tags: Child Neuropsychol Source Type: research
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