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Autism etiology

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https://www.readbyqxmd.com/read/28335463/dysfunctional-mtorc1-signaling-a-convergent-mechanism-between-syndromic-and-nonsyndromic-forms-of-autism-spectrum-disorder
#1
REVIEW
Juliana Magdalon, Sandra M Sánchez-Sánchez, Karina Griesi-Oliveira, Andréa L Sertié
Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway has been identified as a molecular feature common to several well-characterized syndromes with high prevalence of ASD. Additionally, recent findings have also implicated mTORC1 signaling abnormalities in a subset of nonsyndromic ASD, suggesting that defective mTORC1 pathway may be a potential converging mechanism in ASD pathology across different etiologies...
March 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#2
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28322981/imaging-genetics-in-autism-spectrum-disorders-linking-genetics-and-brain-imaging-in-the-pursuit-of-the-underlying-neurobiological-mechanisms
#3
REVIEW
Marc Fakhoury
Autism spectrum disorders (ASD) include a wide range of heterogeneous neurodevelopmental conditions that affect an individual in several aspects of social communication and behavior. Recent advances in molecular genetic technologies have dramatically increased our understanding of ASD etiology through the identification of several autism risk genes, most of which serve important functions in synaptic plasticity and protein synthesis. However, despite significant progress in this field of research, the characterization of the neurobiological mechanisms by which common genetic risk variants might operate to give rise to ASD symptomatology has proven to be far more difficult than expected...
March 16, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28322275/oxidative-stress-driven-parvalbumin-interneuron-impairment-as-a-common-mechanism-in-models-of-schizophrenia
#4
P Steullet, J-H Cabungcal, J Coyle, M Didriksen, K Gill, A A Grace, T K Hensch, A-S LaMantia, L Lindemann, T M Maynard, U Meyer, H Morishita, P O'Donnell, M Puhl, M Cuenod, K Q Do
Parvalbumin inhibitory interneurons (PVIs) are crucial for maintaining proper excitatory/inhibitory balance and high-frequency neuronal synchronization. Their activity supports critical developmental trajectories, sensory and cognitive processing, and social behavior. Despite heterogeneity in the etiology across schizophrenia and autism spectrum disorder, PVI circuits are altered in these psychiatric disorders. Identifying mechanism(s) underlying PVI deficits is essential to establish treatments targeting in particular cognition...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28316774/glutathione-metabolism-in-the-prefrontal-brain-of-adults-with-high-functioning-autism-spectrum-disorder-an-mrs-study
#5
Dominique Endres, Ludger Tebartz van Elst, Simon A Meyer, Bernd Feige, Kathrin Nickel, Anna Bubl, Andreas Riedel, Dieter Ebert, Thomas Lange, Volkmar Glauche, Monica Biscaldi, Alexandra Philipsen, Simon J Maier, Evgeniy Perlov
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by difficulties in social communication, unusually restricted, repetitive behavior and interests, and specific abnormalities in language and perception. The precise etiology of ASD is still unknown and probably heterogeneous. In a subgroup of patients, toxic environmental exposure might lead to an imbalance between oxidative stress and anti-oxidant systems. Previous serum and postmortem studies measuring levels of glutathione (GSH), the main cellular free radical scavenger in the brain, have supported the hypothesis that this compound might play a role in the pathophysiology of autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316770/exaggerated-cph-methylation-in-the-autism-affected-brain
#6
Shannon E Ellis, Simone Gupta, Anna Moes, Andrew B West, Dan E Arking
BACKGROUND: The etiology of autism, a complex, heritable, neurodevelopmental disorder, remains largely unexplained. Given the unexplained risk and recent evidence supporting a role for epigenetic mechanisms in the development of autism, we explored the role of CpG and CpH (H = A, C, or T) methylation within the autism-affected cortical brain tissue. METHODS: Reduced representation bisulfite sequencing (RRBS) was completed, and analysis was carried out in 63 post-mortem cortical brain samples (Brodmann area 19) from 29 autism-affected and 34 control individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316769/etiological-influences-on-the-stability-of-autistic-traits-from-childhood-to-early-adulthood-evidence-from-a-twin-study
#7
Mark J Taylor, Christopher Gillberg, Paul Lichtenstein, Sebastian Lundström
BACKGROUND: Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors. METHODS: Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28299627/analysis-of-estrogen-receptor-%C3%AE-gene-methylation-in-autistic-males-in-a-chinese-han-population
#8
Xuelai Wang, Shuang Liang, Yi Sun, Haixin Li, Fumio Endo, Mitsuyoshi Nakao, Noriko Saitoh, Lijie Wu
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients...
March 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28298276/early-life-nutritional-programming-of-cognition-the-fundamental-role-of-epigenetic-mechanisms-in-mediating-the-relation-between-early-life-environment-and-learning-and-memory-process
#9
REVIEW
Laura Moody, Hong Chen, Yuan-Xiang Pan
The perinatal period is a window of heightened plasticity that lays the groundwork for future anatomic, physiologic, and behavioral outcomes. During this time, maternal diet plays a pivotal role in the maturation of vital organs and the establishment of neuronal connections. However, when perinatal nutrition is either lacking in specific micro- and macronutrients or overloaded with excess calories, the consequences can be devastating and long lasting. The brain is particularly sensitive to perinatal insults, with several neurologic and psychiatric disorders having been linked to a poor in utero environment...
March 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28296371/-autism-spectrum-disorder-etiological-diagnostic-and-therapeutic-aspects
#10
César Reynoso, María José Rangel, Virgilio Melgar
Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#11
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28288805/humoral-immunity-and-autism-spectrum-disorders
#12
Keith Fluegge
Abnormal immune activation, particularly of a humoral nature, has consistently been described in the etiopathogenesis of autism spectrum disorders (ASD). In this journal, Mead and Ashwood (2015) reviewed immune abnormalities in autism and linked them to severity of classic autistic symptoms. However, there remains a lack of clarity as to how environmental risk factors in ASD may contribute to such immunophenotypes. The evidence presented herein highlights these immune deficits of a humoral nature in ASD. Moreover, aligned with prior research showing a link between chronic air pollution and suppression of humoral immunity, the author of this commentary has proposed that environmental exposure to pervasive air pollutants, particularly nitrous oxide (N2O), may target several anti-inflammatory biomarkers, including alpha 7 nicotinic acetylcholine receptor (α7nAChR) inhibition and stimulation of kappa opioid receptor (KOR) activity...
March 10, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#13
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28284582/the-association-of-cntnap2-rs7794745-gene-polymorphism-and-autism-in-iranian-population
#14
Sahar Zare, Farhad Mashayekhi, Elham Bidabadi
Autism is a heterogeneous and multifactorial disease that results from the interaction between genetic vulnerability and environmental factors. Several studies showed that many of genes that play role in autism are component of signaling networks that regulate growth and synaptic plasticity, play an important role in the etiology of autism. Contactin associated-like 2 (CNTNAP2) gene is a member of the superfamily of synaptic adhesion proteins and encodes a scaffold protein called CASPR2 that is involved in the interaction of neuron-glia and clusters K(+) channels in myelinated axons...
March 8, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28283809/genes-related-to-oxytocin-and-arginine-vasopressin-pathways-associations-with-autism-spectrum-disorders
#15
REVIEW
Rong Zhang, Hong-Feng Zhang, Ji-Sheng Han, Song-Ping Han
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorders characterized by impaired social interactions, communication deficits, and repetitive behavior. Although the mechanisms underlying its etiology and manifestations are poorly understood, several lines of evidence from rodent and human studies suggest involvement of the evolutionarily highly-conserved oxytocin (OXT) and arginine-vasopressin (AVP), as these neuropeptides modulate various aspects of mammalian social behavior. As far as we know, there is no comprehensive review of the roles of the OXT and AVP systems in the development of ASD from the genetic aspect...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28269016/ensemble-statistical-and-subspace-clustering-model-for-analysis-of-autism-spectrum-disorder-phenotypes
#16
Khalid Al-Jabery, Tayo Obafemi-Ajayi, Gayla R Olbricht, T Nicole Takahashi, Stephen Kanne, Donald Wunsch
Heterogeneity in Autism Spectrum Disorder (ASD) is complex including variability in behavioral phenotype as well as clinical, physiologic, and pathologic parameters. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now diagnoses ASD using a 2-dimensional model based social communication deficits and fixated interests and repetitive behaviors. Sorting out heterogeneity is crucial for study of etiology, diagnosis, treatment and prognosis. In this paper, we present an ensemble model for analyzing ASD phenotypes using several machine learning techniques and a k-dimensional subspace clustering algorithm...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28266806/a-pilot-study-of-serotonergic-modulation-after-long-term-administration-of-oxytocin-in-autism-spectrum-disorder
#17
Tetsu Hirosawa, Mitsuru Kikuchi, Yasuomi Ouchi, Tetsuya Takahashi, Yuko Yoshimura, Hirotaka Kosaka, Naoki Furutani, Hirotoshi Hiraishi, Mina Fukai, Masamichi Yokokura, Etsuji Yoshikawa, Tomoyasu Bunai, Yoshio Minabe
Oxytocin (OT) and the serotonergic system putatively play important roles in autism spectrum disorder (ASD) etiology and symptoms, but no direct neurobiological evidence exists for long-term OT administration effects on the brain's serotonergic system. This pilot study examined 10 male participants with ASD who were administered OT intranasally for 8-10 weeks in an open-label, single-arm, nonrandomized, and uncontrolled manner. Positron emission tomography (PET) with a radiotracer ((11) C)-3-amino-4-(2-[(dimethylamino)methyl]phenylthio)benzonitrile ((11) C-DASB) was used before and after OT treatment...
March 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28266791/autism-spectrum-disorder-in-sub-saharan-africa-a-comprehensive-scoping-review
#18
REVIEW
Lauren Franz, Nola Chambers, Megan von Isenburg, Petrus J de Vries
Autism spectrum disorder (ASD) is recognized as a global public health concern, yet almost everything we know about ASD comes from high-income countries. Here we performed a scoping review of all research on ASD ever published in sub-Saharan Africa (SSA) in order to identify ASD knowledge gaps in this part of the world. Fifty-three publications met inclusion criteria. Themes included the phenotype, genetics and risk factors for ASD in SSA, screening and diagnosis, professional knowledge, interventions for ASD, parental perceptions, and social-cognitive neuroscience...
March 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28264500/geneanalytics-pathway-analysis-and-genetic-overlap-among-autism-spectrum-disorder-bipolar-disorder-and-schizophrenia
#19
Naveen S Khanzada, Merlin G Butler, Ann M Manzardo
Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28262759/role-of-a-circadian-relevant-gene-nr1d1-in-brain-development-possible-involvement-in-the-pathophysiology-of-autism-spectrum-disorders
#20
Masahide Goto, Makoto Mizuno, Ayumi Matsumoto, Zhiliang Yang, Eriko F Jimbo, Hidenori Tabata, Takanori Yamagata, Koh-Ichi Nagata
In our previous study, we screened autism spectrum disorder (ASD) patients with and without sleep disorders for mutations in the coding regions of circadian-relevant genes, and detected mutations in several clock genes including NR1D1. Here, we further screened ASD patients for NR1D1 mutations and identified three novel mutations including a de novo heterozygous one c.1499 G > A (p.R500H). We then analyzed the role of Nr1d1 in the development of the cerebral cortex in mice. Acute knockdown of mouse Nr1d1 with in utero electroporation caused abnormal positioning of cortical neurons during corticogenesis...
March 6, 2017: Scientific Reports
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