45,536 results match your criteria Autism


Man and the Microbiome: A New Theory of Everything?

Annu Rev Clin Psychol 2019 Feb 20. Epub 2019 Feb 20.

Departments of Psychiatry and Neurobehavioural Science, University College Cork, Cork T12 K8AF, Ireland; email:

The gut microbiome is implicated in the pathophysiology of a wide range of psychological disorders. Preclinical studies have provided us with key insights into the mechanisms by which the microbiome influences bidirectional gut-brain communication. There are many signaling pathways involved, including the hypothalamic-pituitary-adrenal axis, immune modulation, tryptophan and serotonin metabolism, bile acid transformation, microbial production of neuroactive compounds, and regulation of the endocannabinoid system. Read More

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http://dx.doi.org/10.1146/annurev-clinpsy-050718-095432DOI Listing
February 2019
1 Read

Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism.

IUBMB Life 2019 Feb 20. Epub 2019 Feb 20.

Human Molecular Genetics Laboratory, Rajiv Gandhi Centre for Biotechnology, Trivandrum, Kerala, India.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Read More

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http://dx.doi.org/10.1002/iub.2021DOI Listing
February 2019

[Autism: Language, body and writing].

Vertex 2018 Sep;XXIX(141):330-333

This work aims to convey to health professionals, an exhaustive clinical approach of children and adolescents, diagnosed in the category of Autism Spectrum Disorder (ASD), performed during the last twenty years, in public hospitals and therapeutic educational centers in the city of Buenos Aires, Argentina. Here are presented tools to overcome the sameness behavior and loneliness originally defined in said clinical picture. Read More

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September 2018

Preliminary results of identification and quantification of paclitaxel and its metabolites in human meconium from newborns with gestational chemotherapeutic exposure.

PLoS One 2019 20;14(2):e0211821. Epub 2019 Feb 20.

AJ Drexel Autism Institute, Drexel University, Philadelphia, Pennsylvania, United States of America.

Objective: Cancer diagnosis during pregnancy occurs in 1 out of 1000 pregnancies with common malignancies including breast and hematological cancers. Fetal exposure to currently utilized agents is poorly described. We directly assessed fetal exposure by screening meconium from 23 newborns whose mothers had undergone treatment for cancer during pregnancy. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211821PLOS
February 2019

Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition.

Cell Rep 2019 Feb;26(8):2037-2051.e6

Department of Neuroscience, Physiology and Pharmacology, University College London, Gower Street, London WC1E 6BT, UK. Electronic address:

Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains poorly understood. Copy number variations in CYFIP1 are associated with autism, schizophrenia, and intellectual disability, but its role in regulating synaptic inhibition or E/I balance remains unclear. We show that CYFIP1, and the paralog CYFIP2, are enriched at inhibitory postsynaptic sites. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.01.092DOI Listing
February 2019

Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy.

J Autism Dev Disord 2019 Feb 19. Epub 2019 Feb 19.

Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, V Uvalu 84, 15006, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s10803-019-03935-zDOI Listing
February 2019

Language Performance in Preschool-Aged Boys with Nonsyndromic Autism Spectrum Disorder or Fragile X Syndrome.

J Autism Dev Disord 2019 Feb 19. Epub 2019 Feb 19.

MIND Institute, University of California Davis, Sacramento, USA.

In the present study, language performance on standardized assessments (e.g., overall verbal performance, receptive and expressive vocabulary) and spontaneous language produced in play was compared between preschool-aged boys with autism spectrum disorder (ASD, n = 25) and boys with fragile X syndrome (FXS, n = 16). Read More

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http://dx.doi.org/10.1007/s10803-019-03919-zDOI Listing
February 2019

Family Sexuality Communication for Adolescent Girls on the Autism Spectrum.

J Autism Dev Disord 2019 Feb 19. Epub 2019 Feb 19.

Department of Psychology, University of Utah, 380 South 1530 East BEHS 502, Salt Lake City, UT, 84112, USA.

Families are critical for supporting healthy sexuality and relationship development for youth with autism. The objective of this study was to describe family sexuality communication for adolescent girls with autism. Participants were 141 parents of autistic daughters who completed an online survey about sexuality development. Read More

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http://dx.doi.org/10.1007/s10803-019-03904-6DOI Listing
February 2019

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.

J Autism Dev Disord 2019 Feb 19. Epub 2019 Feb 19.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, Mailstop E-87, Atlanta, GA, 30341, USA.

The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. Read More

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http://dx.doi.org/10.1007/s10803-019-03899-0DOI Listing
February 2019

Early Diagnosis and Intervention for Autism Spectrum Disorder: Need for Pediatrician-Child Psychiatrist Liaison.

Indian J Psychol Med 2019 Jan-Feb;41(1):87-90

Department of Psychiatry, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Background: Early interventions in children with autism spectrum disorder (ASD) reduce progressive symptom development. Delay in diagnosis and initiation of ASD-specific interventions is observed across settings. This study aimed to assess the trends in time to diagnosis and treatment initiation in a tertiary care pediatric setting. Read More

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http://dx.doi.org/10.4103/IJPSYM.IJPSYM_154_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337936PMC
February 2019

Ameliorative effect of probiotics (Lactobacillus paracaseii and Protexin®) and prebiotics (propolis and bee pollen) on clindamycin and propionic acid-induced oxidative stress and altered gut microbiota in a rodent model of autism.

Cell Mol Biol (Noisy-le-grand) 2019 Jan 31;65(1):1-7. Epub 2019 Jan 31.

Central Laboratory, Female Center for Scientific and Medical Studies, King Saud University, Riyadh, Saudi Arabia.

Colonization by toxin-producing bacteria in the gut plays a major role in bowel problems in autistic patients. Prebiotics can inhibit the growth of these pathogenic microbes by nourishing beneficial bacteria, while probiotics--live microorganisms--can balance the gut bacteria; thus, both together can maintain healthy bacteria in the gut. The present study was conducted to find the effect of probiotics and prebiotics in balancing the gut flora in a rodent model of autism linked with a clindamycin-induced altered gut. Read More

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January 2019
3 Reads

A Machine Learning Approach to Reveal the NeuroPhenotypes of Autisms.

Int J Neural Syst 2018 Dec 13:1850058. Epub 2018 Dec 13.

5 Department of Psychiatry, University of Cambridge, Cambridge, CB2 0SZ, UK.

Although much research has been undertaken, the spatial patterns, developmental course, and sexual dimorphism of brain structure associated with autism remains enigmatic. One of the difficulties in investigating differences between the sexes in autism is the small sample sizes of available imaging datasets with mixed sex. Thus, the majority of the investigations have involved male samples, with females somewhat overlooked. Read More

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https://www.worldscientific.com/doi/abs/10.1142/S01290657185
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http://dx.doi.org/10.1142/S0129065718500582DOI Listing
December 2018
3 Reads

The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons.

Neurosci Lett 2019 Feb 16. Epub 2019 Feb 16.

Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, 60611 IL, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, 60611 IL, USA; Northwestern University Center for Autism and Neurodevelopment, Chicago IL 60611, USA. Electronic address:

GABAergic interneurons are emerging as prominent substrates in the pathophysiology of multiple neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and epilepsy. Interneuron excitatory activity is influenced by 2-amino-3-(3-hydroxy-5-methyl-isoxazol-4-yl) propanoic acid receptors (AMPARs), which in turn affects excitatory transmission in the central nervous system. Yet how dysregulation of interneuronal AMPARs distinctly contributes to the molecular underpinning of neurobiological disease is drastically underexplored. Read More

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http://dx.doi.org/10.1016/j.neulet.2019.02.025DOI Listing
February 2019

The nanoeconomics of concurrent choice behavior.

J Exp Anal Behav 2019 Feb 19. Epub 2019 Feb 19.

The University of Auckland.

We introduce to behavior analysis a way of analyzing choice behavior that exploits recent developments in nanoeconomics, financial economics, and econometrics. A response return, modeled on an economic return, is the log differenced count of responses allocated to each of two alternatives during a short time window, compared with that in the immediately preceding window. The response return is a new dependent variable which offers a novel and useful way of looking at operant behavior, especially at the molecular level of analysis. Read More

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http://dx.doi.org/10.1002/jeab.508DOI Listing
February 2019

Iron Deficiency, Cognitive Functions, and Neurobehavioral Disorders in Children.

J Mol Neurosci 2019 Feb 18. Epub 2019 Feb 18.

Council for Nutritional and Environmental Medicine (CONEM), Toften 24, 8610, Mo i Rana, Norway.

More than 25% of the world's population is affected by anemia, of which more than 50% suffers from iron deficiency anemia (IDA). Children below 7 years of age are the population group that is most vulnerable to iron deficiency. Iron is an essential element in brain metabolism. Read More

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http://dx.doi.org/10.1007/s12031-019-01276-1DOI Listing
February 2019
2.343 Impact Factor

Network Analysis of Behaviors in the Depression and Autism Realms: Inter-Relationships and Clinical Implications.

J Autism Dev Disord 2019 Feb 18. Epub 2019 Feb 18.

Child Study Center, Yale University School of Medicine, 230 S. Frontage Rd, New Haven, CT, 06519, USA.

Depression-, anxiety-, OCD- and autism-related behaviors were assessed in 118 high-functioning individuals with autism spectrum disorders (ASD) and in 2016 controls. The ASD group had a higher rate of clinical depression and markedly higher "insomnia" and "restlessness" scores. Network analysis and hierarchical cluster analysis in the ASD group revealed that depression and anxiety items clustered together, but separately from autism-related items. Read More

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http://dx.doi.org/10.1007/s10803-019-03914-4DOI Listing
February 2019

Visual Search Performance Does Not Relate to Autistic Traits in the General Population.

J Autism Dev Disord 2019 Feb 16. Epub 2019 Feb 16.

Uppsala Child & Babylab, Department of Psychology, Uppsala University, Box 256, 751 05, Uppsala, Sweden.

Autism spectrum disorder (ASD) is commonly conceived as the extreme end of a continuum. Research suggests that autistic individuals outperform typically developing controls in visual search. Thus, enhanced visual search may represent an adaptive trait associated with ASD. Read More

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http://dx.doi.org/10.1007/s10803-019-03907-3DOI Listing
February 2019

Sex Differences in Body Ownership in Adults With Autism Spectrum Disorder.

Front Psychol 2019 4;10:168. Epub 2019 Feb 4.

Neuroscience Area, International School for Advanced Studies, Trieste, Italy.

A strong male prevalence has been observed in autism spectrum disorder (ASD) since its definition, but the behavioral manifestations of sex disparity have yet to be clarified. Here, we investigate sex differences in the perception of the Numbness Illusion (NI), a procedure based on a tactile conflict, in adults with ASD and with typical development. We aim to assess if women and men with ASD perceive NI-dependent body ownership differently and whether sex differences emerge in individuals with typical development. Read More

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http://dx.doi.org/10.3389/fpsyg.2019.00168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369199PMC
February 2019

[Thrombodynamic parameters of hypercoagulation of blood in children with childhood autism and schizophrenia].

Zh Nevrol Psikhiatr Im S S Korsakova 2019 ;119(1):59-63

Mental Health Research Center of Russian Academy of Sciences, Moscow, Russia.

Aim: To detect blood plasma coagulability in children with mental diseases using a thrombodynamics test.

Material And Methods: The study included two groups of children. Group 1 included 11 patients with infantile psychosis in autism (F84. Read More

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http://dx.doi.org/10.17116/jnevro201911901159DOI Listing
January 2019

Beyond protein-coding genes.

Elife 2019 Feb 19;8. Epub 2019 Feb 19.

Department of Cell Biology, University of Valencia, Valencia, Spain.

A long non-coding RNA called regulates several neuronal genes, including some involved in autism and intellectual disabilities. Read More

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https://elifesciences.org/articles/45123
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http://dx.doi.org/10.7554/eLife.45123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380835PMC
February 2019
4 Reads

Functional Connectivity of Frontoparietal and Salience/Ventral Attention Networks Have Independent Associations With Co-occurring Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Autism.

Biol Psychiatry Cogn Neurosci Neuroimaging 2019 Jan 9. Epub 2019 Jan 9.

Center for Autism Research and Department of Child and Adolescent Psychiatry and Behavioral Sciences, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Children with autism spectrum disorder (ASD) and co-occurring attention-deficit/hyperactivity disorder (ADHD) symptoms have worse functional outcomes and treatment response than those without ADHD symptoms. There is limited knowledge of the neurobiology of ADHD symptoms in ASD. Here, we test the hypothesis that aberrant functional connectivity of two large-scale executive brain networks implicated in ADHD-the frontoparietal and salience/ventral attention networks-also play a role in ADHD symptoms in ASD. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24519022193000
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http://dx.doi.org/10.1016/j.bpsc.2018.12.012DOI Listing
January 2019
3 Reads

Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.

Curr Genet Med Rep 2017 Mar 11;5(1):1-7. Epub 2017 Feb 11.

Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.

Purpose Of Review: Pitt Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from mutations of the clinically pleiotropic Transcription Factor 4 (TCF4) gene. Mutations in the genomic locus of TCF4 on chromosome 18 have been linked to multiple disorders including 18q syndrome, schizophrenia, Fuch's corneal dystrophy, and sclerosing cholangitis. For PTHS, TCF4 mutation or deletion leads to the production of a dominant negative TCF4 protein and/or haploinsufficiency that results in abnormal brain development. Read More

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http://link.springer.com/10.1007/s40142-017-0110-0
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http://dx.doi.org/10.1007/s40142-017-0110-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376960PMC
March 2017
1 Read

Autistic traits impact on olfactory processing in adolescent girls with Anorexia Nervosa restricting type.

Psychiatry Res 2019 Feb 11;274:20-26. Epub 2019 Feb 11.

IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

The correct functioning of the chemosensory pathway is pivotal for the attitude towards feeding. In some neuropsychiatric disorders, abnormalities of the sensory processing dramatically affect feeding behavior; however, evidences for an olfactory involvement in Anorexia Nervosa (AN) are still controversial. We administered a complete olfactory testing battery, the Sniffin' Sticks Extended Test, to a cohort of 19 girls with Restrictive Anorexia Nervosa (AN-R) and 19 healthy controls. Read More

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http://dx.doi.org/10.1016/j.psychres.2019.02.026DOI Listing
February 2019
1 Read

Trends in concept and nosology of autism spectrum disorder: A review.

Asian J Psychiatr 2019 Feb 10;40:92-99. Epub 2019 Feb 10.

Department of Psychiatry and National Drug Dependence Treatment Centre, All India Institute of Medical Sciences, New Delhi, India.

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by persistent deficits in social communication, social interaction and restricted, repetitive patterns of behavior, interests or activities. The concept of autism has changed since its inception, from childhood schizophrenia to neuro-variation. These changes in concept have been accompanied by changes in the diagnostic threshold through which the 'case' of autism is identified. Read More

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http://dx.doi.org/10.1016/j.ajp.2019.01.021DOI Listing
February 2019

Relationships between implicit and explicit uncertainty monitoring and mindreading: Evidence from autism spectrum disorder.

Conscious Cogn 2019 Feb 15;70:11-24. Epub 2019 Feb 15.

Department of Philosophy, University of Maryland, USA.

We examined performance on implicit (non-verbal) and explicit (verbal) uncertainty-monitoring tasks among neurotypical participants and participants with autism, while also testing mindreading abilities in both groups. We found that: (i) performance of autistic participants was unimpaired on the implicit uncertainty-monitoring task, while being significantly impaired on the explicit task; (ii) performance on the explicit task was correlated with performance on mindreading tasks in both groups, whereas performance on the implicit uncertainty-monitoring task was not; and (iii) performance on implicit and explicit uncertainty-monitoring tasks was not correlated. The results support the view that (a) explicit uncertainty-monitoring draws on the same cognitive faculty as mindreading whereas (b) implicit uncertainty-monitoring only test first-order decision making. Read More

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http://dx.doi.org/10.1016/j.concog.2019.01.013DOI Listing
February 2019

[Use of virtual reality for neurodevelopmental disorders. A review of the state of the art and future agenda].

Medicina (B Aires) 2019 ;79 Suppl 1:77-81

Centro de Desarrollo Cognitivo Red Cenit, Valencia, España.

To date, the diagnostic tools for autism spectrum disorder (ASD) have been mostly based on qualitative criteria from observational information in contexts with low ecological validity. We are witnessing a growing scientific activity that proposes the use of implicit measures for the evaluation and diagnosis of ASD. These measures are based on processes of a biological and unconscious nature, underlying the capacity of human cognition, and are obtained through the acquisition and treatment of brain, physiological and behavioral responses in order to obtain the behavioral structure of the ASD patient facing a stimulus. Read More

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January 2019

[The sleep in children with neurodevelopmental disorders].

Medicina (B Aires) 2019 ;79 Suppl 1:44-50

Unidad de Pediatría Integral y Sueño, Hospital Quirónsalud, Valencia, Grupo de Sueño de la Sociedad Española de Pediatría Extrahospitalaria y Atención Primaria (SEPEAP), España. E-mail:

Adequate sleep is of critical need for a typical synaptic development and brain maturation, a poor quality sleep can have detrimental effects on children's' cognitive attention, memory, mood regulation, and behavior functions. Great concern has been voiced out regarding the high prevalence of poor sleep in children worldwide, the effects of poor sleep may be even more pronounced in children with neurodevelopmental disorders; these children often have difficulties with falling and staying asleep and with night awakenings, this has a strong association with daytime behavior problems. The purpose of this article is to provide an overview of the state of the science of sleep in children with a neurodevelopmental disorder. Read More

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January 2019

[Reduction of dysfunctional self-injurious and self-stimulatory behaviors in autism disorders spectrum through occupational therapy].

Medicina (B Aires) 2019 ;79 Suppl 1:38-43

RED CENIT, Centros de Desarrollo Cognitivo (CEDECO), Centros de Integración Sensorial (CIS), Valencia, España.

Self-stimulatory and self-injurious behaviors are very frequent in neurodevelopmental disorders, being a source of anxiety and suffering for persons who have that behavior and their families. Sometimes these behaviors are so intense and frequent that it becomes a selfintegrity risk. A bibliographic review was conducted on the different approaches that have been developed until today; in addition, this article explains the methodology applied in our clinic, with a data collection on the effect of therapy on self-injurious and self-stimulatory behaviors in 20 cases, as a starting point for future research. Read More

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January 2019

[Neurobiological bases of autism and cellular models for its experimental study].

Medicina (B Aires) 2019 ;79 Suppl 1:27-32

Intituto de Neurociencias UMH-CSIC. San Joan d'Alacant. Alicante. España. E-mail:

Autism Spectrum Disorders (ASD) are a functional alteration of the cerebral cortex, which presents structural neurodevelopmental anomalies that affect synaptic function and the pattern of connections within and between cortical columns. From its etiological aspect, ASD has an important genetic load, considering a polygenic disorder, derived from a combination of "de novo" genetic mutations, associated to a predisposition derived from common inherited variations. The main genetic anomalies associated with ASD involve genes that encode proteins of the synapse. Read More

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January 2019

[Family context of children with autism. Implications for emotional and social development].

Medicina (B Aires) 2019 ;79 Suppl 1:22-26

Facultad de Psicología, Universidad de Valencia, España. E-mail:

Families of children with autism spectrum disorder (ASD) can be differentiated according to sociodemographics and environmental risk factors characterized by stress parental, the use of coping strategies and social support. The aim of this study was to analyze the behavioral, emotional and social manifestations of children with ASD, related to different types of families characterized according risk factors as families with "high risk", with "moderated risk" and with "low risk". Participants were 52 mothers and their children between 7 and 11 years old with ASD without intellectual disability. Read More

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January 2019

[Autism. Genetic and biological aspects].

Medicina (B Aires) 2019 ;79 Suppl 1:16-21

Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. Read More

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January 2019

[Functional adaptation and disorders of the autistic spectrum].

Medicina (B Aires) 2019 ;79 Suppl 1:10-15

IGAIN, Instituto Global de Atención Integral al Neurodesarrollo, Barcelona, España.

Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment. Read More

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January 2019

[Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies].

Medicina (B Aires) 2019 ;79 Suppl 1:4-9

Unidad de Neurología Infantil, Hospital Universitario Central de Asturias, Oviedo, España.

Autism spectrum disorders are a heterogeneous group of disorders that share the presence of two core symptoms: problems in social interaction / communication and the tendency to present restricted interests and repetitive behavior. Over the last years, several epidemiologic studies have been published by different authors in diverse countries, having all of them shown two common characteristics: a global increase in the prevalence rates of autism spectrum disorders, and the existence of a great geographical variability no only between geographical areas, but also within the same geographical areas. At the present manuscript, we analyze some of the most recent prevalence data published in USA and some European countries (including Spain). Read More

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January 2019

[Editorial. Neurodevelopment and autism].

Authors:
Roberto Tuchman

Medicina (B Aires) 2019 ;79 Suppl 1:2-3

Department of Neurology. Nicklaus Children's Hospital. Miami Children's Health System. Florida. USA. E-mail:

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January 2019

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.

Clin Endocrinol (Oxf) 2019 Feb 18. Epub 2019 Feb 18.

Endocrinology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. Read More

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http://dx.doi.org/10.1111/cen.13951DOI Listing
February 2019

Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

J Pediatr Genet 2019 Mar 14;8(1):1-9. Epub 2018 Dec 14.

Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey.

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. Read More

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http://dx.doi.org/10.1055/s-0038-1676583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375720PMC

Atypical Flexibility in Dynamic Functional Connectivity Quantifies the Severity in Autism Spectrum Disorder.

Front Hum Neurosci 2019 1;13. Epub 2019 Feb 1.

Cognitive Brain Dynamics Lab, National Brain Research Centre, Manesar, India.

Resting-state functional connectivity (FC) analyses have shown atypical connectivity in autism spectrum disorder (ASD) as compared to typically developing (TD). However, this view emerges from investigating static FC overlooking the whole brain transient connectivity patterns. In our study, we investigated how age and disease influence the dynamic changes in functional connectivity of TD and ASD. Read More

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http://dx.doi.org/10.3389/fnhum.2019.00006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367662PMC
February 2019

Asperger's Children: The Origins of Autism in Nazi Vienna By Edith Sheffer. W.W. Norton and Company. 2018. 320 pp. £18.99 (hb). ISBN 9780393609646.

Br J Psychiatry 2019 Mar;214(3):176

Consultant in Old Age Psychiatry,Cambridgeshire and Peterborough NHS Foundation Trust,Elizabeth House,Fulbourn Hospital,Fulbourn,Cambridge CB21 5EF,UK;and Associate Lecturer,University of Cambridge,UK.

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http://dx.doi.org/10.1192/bjp.2019.15DOI Listing

Demographics and Risk Factors for Non-Accidental Orthopedic Trauma.

Clin Pediatr (Phila) 2019 Feb 16:9922819829045. Epub 2019 Feb 16.

1 Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.

Childhood non-accidental trauma (NAT) is the second most common cause of death in children. Despite its prevalence, NAT is frequently unreported due to provider misdiagnosis or unawareness. The purpose of this study was to determine current risk factors and injury patterns associated with NAT. Read More

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http://dx.doi.org/10.1177/0009922819829045DOI Listing
February 2019

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.

Background: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings.

Methods: Chromosomal microarray analysis was performed to identify the existence of copy number variation. Read More

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http://dx.doi.org/10.1111/jir.12592DOI Listing
February 2019

Early intervention for obsessive compulsive disorder: An expert consensus statement.

Eur Neuropsychopharmacol 2019 Feb 14. Epub 2019 Feb 14.

Sackler Medical School, Tel Aviv University, Chaim Sheba Medical Center, Tel Hashomer, Tel Aviv, Israel.

Obsessive-compulsive disorder (OCD) is common, emerges early in life and tends to run a chronic, impairing course. Despite the availability of effective treatments, the duration of untreated illness (DUI) is high (up to around 10 years in adults) and is associated with considerable suffering for the individual and their families. This consensus statement represents the views of an international group of expert clinicians, including child and adult psychiatrists, psychologists and neuroscientists, working both in high and low and middle income countries, as well as those with the experience of living with OCD. Read More

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http://dx.doi.org/10.1016/j.euroneuro.2019.02.002DOI Listing
February 2019

Tics and stereotypies: A comparative clinical review.

Parkinsonism Relat Disord 2019 Feb 4. Epub 2019 Feb 4.

Tic and Neurodevelopmental Movements Service (TANDeM), Children's Neurosciences Centre, Evelina London Children's Hospital, Guys and St Thomas' NHS Foundation Trust, London, UK.

Tics and stereotypies are the most common pathological repetitive complex motor behaviors occurring during the neurodevelopmental period. Although they may appear transiently during development without acquiring a pathological status, when they become chronic they may be distressing, socially impairing, or even, in the case of malignant tics, potentially physically harmful. Despite a certain similarity in their phenomenology, physicians should be able to distinguish them for their different variability over time, topographical distribution, association with sensory manifestations, and relationship with environmental triggers. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.02.005DOI Listing
February 2019

Using anxiolytics in a pediatric otolaryngology clinic to avoid the operating room.

Int J Pediatr Otorhinolaryngol 2019 Feb 5;120:73-77. Epub 2019 Feb 5.

Division of Otolaryngology, Head and Neck Surgery, University of Utah, Salt Lake City, UT, USA. Electronic address:

Introduction: There is increasing concern regarding the risks associated with the use of general anesthesia in pediatric patients. Many otolaryngologic procedures performed under general anesthesia can also be performed in clinic. We hypothesize that anxiolytics can aid in performing common procedures in clinic thus avoiding the need to undergo general anesthesia in the OR. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.02.014DOI Listing
February 2019

Pumping the brakes: suppression of synapse development by MDGA-neuroligin interactions.

Curr Opin Neurobiol 2019 Feb 13;57:71-80. Epub 2019 Feb 13.

Djavad Mowafaghian Centre for Brain Health and Department of Psychiatry, University of British Columbia, 2211 Wesbrook Mall, Vancouver, BC, V6T 2B5, Canada. Electronic address:

Synapse development depends on a dynamic balance between synapse promoters and suppressors. MDGAs, immunoglobulin superfamily proteins, negatively regulate synapse development through blocking neuroligin-neurexin interactions. Recent analyses of MDGA-neuroligin complexes revealed the structural basis of this activity and indicate that MDGAs interact with all neuroligins with differential affinities. Read More

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http://dx.doi.org/10.1016/j.conb.2019.01.002DOI Listing
February 2019
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Towards a fuller assessment of benefits to children's health of reducing air pollution and mitigating climate change due to fossil fuel combustion.

Environ Res 2018 Dec 12;172:55-72. Epub 2018 Dec 12.

Abt Associates, Boulder, CO, USA. Electronic address:

Background: Fossil fuel combustion by-products, including particulate matter (PM), polycyclic aromatic hydrocarbons (PAH), nitrogen dioxide (NO) and carbon dioxide (CO), are a significant threat to children's health and equality. Various policies to reduce emissions have been implemented to reduce air pollution and mitigate climate change, with sizeable estimated health and economic benefits. However, only a few adverse outcomes in children have been considered, resulting in an undercounting of the benefits to this vulnerable population. Read More

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http://dx.doi.org/10.1016/j.envres.2018.12.016DOI Listing
December 2018
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Clinical and genetic analysis of children with a dual diagnosis of Tourette syndrome and autism spectrum disorder.

J Psychiatr Res 2019 Feb 7;111:145-153. Epub 2019 Feb 7.

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. Electronic address:

Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder that causes children to make repeated, brief involuntary movements or sounds. TS can be co-morbid with other neurodevelopmental disorders, including autism spectrum disorder (ASD). Clusters of biologically related genes have been associated with neurodevelopmental disorders, suggesting shared pathologies. Read More

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http://dx.doi.org/10.1016/j.jpsychires.2019.01.023DOI Listing
February 2019
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A pilot investigation of neuroimaging predictors for the benefits from pivotal response treatment for children with autism.

J Psychiatr Res 2019 Feb 5;111:140-144. Epub 2019 Feb 5.

Department of Psychiatry and Behavioral Sciences, Stanford University, 401 Quarry Road, Stanford, CA, 94305, USA. Electronic address:

Children with autism spectrum disorder (ASD) frequently exhibit language delays and functional communication deficits. Pivotal response treatment (PRT) is an effective intervention for targeting these skills; however, similar to other behavioral interventions, response to PRT is variable across individuals. Thus, objective markers capable of predicting treatment response are critically-needed to identify which children are most likely to benefit from this intervention. Read More

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http://dx.doi.org/10.1016/j.jpsychires.2019.02.001DOI Listing
February 2019
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Fragile X mental retardation protein positively regulates PKA anchor Rugose and PKA activity to control actin assembly in learning/memory circuitry.

Neurobiol Dis 2019 Feb 13. Epub 2019 Feb 13.

Vanderbilt Brain Institute, Departments of Biological Sciences, Cell and Developmental Biology, and Pharmacology, Vanderbilt University and Medical Center, Nashville, TN 37235, USA. Electronic address:

Recent work shows Fragile X Mental Retardation Protein (FMRP) drives the translation of very large proteins (>2000 aa) mediating neurodevelopment. Loss of function results in Fragile X syndrome (FXS), the leading heritable cause of intellectual disability (ID) and autism spectrum disorder (ASD). Using the Drosophila FXS disease model, we discover FMRP positively regulates the translation of the very large A-Kinase Anchor Protein (AKAP) Rugose (>3000 aa), homolog of ASD-associated human Neurobeachin (NBEA). Read More

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http://dx.doi.org/10.1016/j.nbd.2019.02.004DOI Listing
February 2019
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Cumulative multiple early life hits- a potent threat leading to neurological disorders.

Brain Res Bull 2019 Feb 13;147:58-68. Epub 2019 Feb 13.

School of Studies in Neuroscience, Jiwaji University, Gwalior, India; School of Studies in Zoology, Jiwaji University, Gwalior, India. Electronic address:

Early life Stress is a worldwide concern linked with development of later life neurological disorders. Early developmental age is sensitive to many prominent environmental insults like malnourishment, immune inflammation, abuse, maternal separation, alcohol and drugs. Hence, an individual during an early age encounters more than one simultaneous stressor that leads to impairment of cognitive and behavioral abilities, a symptom common to most of the neurological disorders. Read More

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http://dx.doi.org/10.1016/j.brainresbull.2019.02.005DOI Listing
February 2019
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