23,358 results match your criteria Autistic Spectrum Disorders


Sh3rf2 Haploinsufficiency Leads to Unilateral Neuronal Development Deficits and Autistic-Like Behaviors in Mice.

Cell Rep 2018 Dec;25(11):2963-2971.e6

State Key Laboratory of Molecular Developmental Biology, CAS Center for Excellence in Brain Science and Intelligence Technology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China; Parkinson's Disease Center, Beijing Institute for Brain Disorders, Beijing 100101, China. Electronic address:

Autism spectrum disorders (ASDs) include a variety of developmental brain disorders with clinical findings implicating the dysfunction of the left hemisphere. Here, we generate mice lacking one copy of Sh3rf2, which was detected in ASD patients, to determine whether Sh3rf2 is involved in brain development and whether mutation of SH3RF2 is causative for ASD and the mechanisms linking it to ASD traits. We find that mice with Sh3rf2 haploinsufficiency display significant deficits in social interaction and communication, as well as stereotyped or repetitive behaviors and hyperactivity and seizures. Read More

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December 2018

Autism and Religious Beliefs: Clues from Kafka Research.

Authors:
Jerry Stuger

J Autism Dev Disord 2018 Dec 11. Epub 2018 Dec 11.

Independent Researcher, Overvoorde 19, 1082GA, Amsterdam, The Netherlands.

Religious beliefs and faith in high-functioning autistic persons are analyzed by discussing the work and biography of Franz Kafka. It enables researchers to differentiate between how autistic and non-autistic persons experience and express religious beliefs and spiritual issues because Kafka as an autistic person also wrote about these topics in his philosophical-religious writings. This Franz Kafka case study provides additional inner (cognitive) state input to better understand high-functioning autism. Read More

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December 2018

Brief Report: A Novel System to Evaluate Autism Spectrum Disorders Using Two Humanoid Robots.

J Autism Dev Disord 2018 Dec 11. Epub 2018 Dec 11.

Research Center for Child Mental Development, Kanazawa University, 13-1, Takaramachi, Kanazawa, Ishikawa, 920-8640, Japan.

We investigated the feasibility of our novel evaluation system for use with children with autism spectrum disorders (ASD). We prepared the experimental setting with two humanoid robots in reference to the birthday party scene in the Autism Diagnostic Observational Schedule (ADOS). We assessed the relationship between social communication ability measured in the ADOS condition (i. Read More

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December 2018

An International Survey of Parental Attitudes to Technology Use by Their Autistic Children at Home.

J Autism Dev Disord 2018 Dec 11. Epub 2018 Dec 11.

Patrick Wild Centre, University of Edinburgh, Edinburgh, UK.

Capturing variability in use of commercial technologies by autistic children can inform future learning and support technology design. Survey data were collected from parents (n = 388) in the UK, Spain, and Belgium, and includes information about individuals with a range of ages and ability levels. We found a comparable pattern of access and usage across age groups, though higher reading and language ability was linked to use of more devices and interfaces. Read More

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December 2018
1 Read

Oxytocin Modulates the Intrinsic Dynamics Between Attention-Related Large-Scale Networks.

Cereb Cortex 2018 Dec 7. Epub 2018 Dec 7.

The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Laboratory for Neuroinformation, University of Electronic Science and Technology of China, Chengdu, China.

Attention And Salience Processing Have Been Linked To The Intrinsic Between- And Within-network Dynamics Of Large-scale Networks Engaged In Internal (default Network [dn]) And External Attention Allocation (dorsal Attention Network [dan] And Salience Network [sn]). The Central Oxytocin (oxt) System Appears Ideally Organized To Modulate Widely Distributed Neural Systems And To Regulate The Switch Between Internal Attention And Salient Stimuli In The Environment. The Current Randomized Placebo (plc)-controlled Between-subject Pharmacological Resting-state Fmri Study In N = 187 (oxt, N = 94; Plc, N = 93; Single-dose Intranasal Administration) Healthy Male And Female Participants Employed An Independent Component Analysis Approach To Determine The Modulatory Effects Of Oxt On The Within- And Between-network Dynamics Of The Dan–sn–dn Triple Network System. Read More

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December 2018

Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking.

Hum Mol Genet 2018 Dec 7. Epub 2018 Dec 7.

Interdepartmental Program "Autism 0-90", "Gaetano Martino" University Hospital, University of Messina, Italy.

Elevated serotonin (5-HT) blood levels, the first biomarker identified in autism research, has been consistently found in 20-30% of patients with Autism Spectrum Disorder (ASD). Hyperserotonemia is mainly due to greater 5-HT uptake into platelets, mediated by the 5-HT transporter (SERT) located at the platelet plasma membrane. The protein complex involved in platelet SERT trafficking and externalization includes integrin β3, the beta subunit of the platelet membrane adhesive GP IIb/IIIa. Read More

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December 2018

Oxidative and inflammatory mediators are upregulated in neutrophils of autistic children: Role of IL-17A receptor signaling.

Prog Neuropsychopharmacol Biol Psychiatry 2018 Dec 6. Epub 2018 Dec 6.

Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.

Autism spectrum disorder (ASD) is characterized by repetitive behaviors, impaired social communication and stereotyped interests, and often associated with dysregulations in innate/adaptive immune cells. IL-17A has been linked with abnormal behavioral patterns observed in autistic children and animal models of autism. However, it is yet to be investigated if IL-17A and its receptors are implicated in regulation of oxidative and inflammatory mediators in neutrophils of ASD patients. Read More

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December 2018

Altered Global mRNA Expressions of Pain and Aggression Related Genes in the Blood of Children with Autism Spectrum Disorders.

J Mol Neurosci 2018 Dec 5. Epub 2018 Dec 5.

Department of Medical Genetics, Erciyes University Medical Faculty, 38039, Kayseri, Turkey.

Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Read More

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December 2018
5 Reads

Prevalence of autism traits and attention-deficit hyperactivity disorder symptoms in a clinical sample of children and adolescents with chronic pain.

J Pain Res 2018 8;11:2827-2836. Epub 2018 Nov 8.

Functional Area Medical Psychology/Functional Unit Behavior Medicine, Karolinska University Hospital, Stockholm, Sweden,

Purpose: Recent research has suggested that autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) may be comorbid to pediatric chronic pain, but the empirical support is yet scarce. Therefore, the current study aimed to investigate the occurrence of traits and symptoms consistent with clinically significant ASD and ADHD in a group of children and adolescents with chronic debilitating pain and examine potential differences in pain and demographic variables between children with and without clinically significant traits and symptoms of ASD and ADHD.

Patients And Methods: This cross-sectional study included 146 parent-child dyads (102 girls, 111 mothers, children 8-17 years) consecutively referred to a tertiary pain clinic. Read More

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November 2018
1 Read

Treatment of catatonia in autism spectrum disorders.

Authors:
L E Wachtel

Acta Psychiatr Scand 2018 Dec 2. Epub 2018 Dec 2.

Kennedy Krieger Institute, Baltimore, MD, USA.

Objective: To review the treatment courses of 22 autistic patients diagnosed with catatonia over a 12-year period, including treatment with benzodiazepines and electroconvulsive therapy.

Method: Retrospective review of inpatient and outpatient records of 22 autistic youth presenting to a neurobehavioral service who were treated for catatonia.

Results: Six girls and 16 boys ranging from ages 8 to 26 years old presenting for neurobehavioral assessment were found to meet criteria for catatonia according to the DSM5 and were treated for such. Read More

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December 2018

Assessing subtypes of restricted and repetitive behaviour using the Adult Repetitive Behaviour Questionnaire-2 in autistic adults.

Mol Autism 2018 26;9:58. Epub 2018 Nov 26.

1Wales Autism Research Centre, School of Psychology, Cardiff University, Cardiff, UK.

Background: The majority of previous research into restricted and repetitive behaviours (RRBs) has focussed on children, partly due to a lack of suitable measures for RRBs in adults. This study aimed to explore the psychometric properties of the Adult Repetitive Behaviour Questionnaire-2 (RBQ-2A) in a large sample of autistic adults using a self-report questionnaire method.

Methods: The RBQ-2A and Autism-Spectrum Quotient (AQ) were administered online. Read More

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November 2018

Glutamate, Glutamine and GABA Levels in Rat Brain Measured Using MRS, HPLC and NMR Methods in Study of Two Models of Autism.

Front Mol Neurosci 2018 16;11:418. Epub 2018 Nov 16.

Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

The disorders of the glutamatergic neurotransmission have been associated with pathogenesis of autism. In this study we evaluated the impact of the and test methodology on measurements of levels of neurotransmitter amino acids in hippocampus of rats for valproic acid- (VPA) and thalidomide- (THAL) induced models of autism. The main goal was to compare the changes in concentrations of glutamate (Glu), glutamine (Gln) and GABA between both autistic groups and the control, measured and in homogenates. Read More

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November 2018
2 Reads

EEG entropy analysis in autistic children.

J Clin Neurosci 2018 Nov 28. Epub 2018 Nov 28.

State Key Laboratory of Cognitive Neuroscience and Learning and IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China. Electronic address:

Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder, which is characterized by impairments of social interaction and communication, and by stereotyped and repetitive behaviors. Extensive evidences demonstrated that the core neurobiological mechanism of autism spectrum disorder is aberrant neural connectivity, so the entropy of EEG can be applied to quantify this aberrant neural connectivity. In this study, we investigated four entropy methods to analyse the resting-state EEG of the autistic children and the typical development (TD) children. Read More

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November 2018

Autistic Man Falling Through The Cracks. Advanced patient transport and the "pop-up" recovery ward.

Prehosp Emerg Care 2018 Dec 3:1-4. Epub 2018 Dec 3.

b University of Sydney, Faculty of Medicine and Health, School of Rural Health (Dubbo/Orange) , Dubbo , 2830 Australia.

The Royal Flying Doctor Service was tasked to relocate a 19 year-old autistic patient with severe social anxiety, agoraphobia and morbid obesity from one residential location to another. The retrieval team was confronted with two main challenges: 1. Continuous risk elevation in an elective patient transportation as distinct from other urgent prehospital transfers of mental health patients. Read More

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December 2018

Instruments for augmentative and alternative communication for children with autism spectrum disorder: a systematic review.

Clinics (Sao Paulo) 2018 Nov 29;73:e497. Epub 2018 Nov 29.

Laboratorio de Delineamento de Estudos e Escrita Cientifica, Faculdade de Medicina do ABC (FMABC), Santo Andre, SP, BR.

New technologies designed to improve the communication of autistic children can also help to promote interaction processes and cognitive and social development. The aim of this study was to analyze the instruments used to improve the communication skills of children with autism spectrum disorder. We searched the PubMed and Web of Science databases using the descriptors "autism", "Asperger", "education", "children" and "assistive technology" and selected articles that met the following inclusion criteria: (i) original research; (ii) written in English; (iii) based on participants with a primary diagnosis of autism spectrum disorder; and (iv) tested an instrument designed to promote communication in children with autism spectrum disorder. Read More

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November 2018
1 Read

A Nationwide Study in Denmark of the Association Between Treated Infections and the Subsequent Risk of Treated Mental Disorders in Children and Adolescents.

JAMA Psychiatry 2018 Dec 5. Epub 2018 Dec 5.

Mental Health Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark.

Importance: Infections have been associated with increased risks for mental disorders, such as schizophrenia and depression. However, the association between all infections requiring treatment and the wide range of mental disorders is unknown to date.

Objective: To investigate the association between all treated infections since birth and the subsequent risk of development of any treated mental disorder during childhood and adolescence. Read More

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December 2018

Recent Advances and New Directions in Measuring Theory of Mind in Autistic Adults.

J Autism Dev Disord 2018 Dec 4. Epub 2018 Dec 4.

Department of Psychology, University of Bath, Bath, BA2 7AY, UK.

'Theory of Mind' (ToM) is the ability to attribute mental states to others to make sense of their behaviour. ToM research has informed understanding of (a)typical social behaviour, including the symptoms of autism spectrum disorder (ASD). This began with research on ToM in autistic children and there has been a noticeable increase in the study of ToM in autistic adults. Read More

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December 2018
4 Reads

A pilot dose finding study of pioglitazone in autistic children.

Mol Autism 2018 26;9:59. Epub 2018 Nov 26.

1Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, 150 Kilgour Road, Toronto, ON M4G 1R8 Canada.

Background: Pioglitazone is a promising compound for treatment of core autism spectrum disorder (ASD) symptoms as it targets multiple relevant pathways, including immune system alterations.

Objective: This pilot study aimed to elucidate the maximum tolerated dose, safety, preliminary evidence of efficacy, and appropriate outcome measures in autistic children ages 5-12 years old.

Methods: We conducted a 16-week prospective cohort, single blind, single arm, 2-week placebo run-in, dose-finding study of pioglitazone. Read More

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November 2018
3 Reads

Empathizing and systemizing are differentially related to dimensions of autistic traits in the general population.

Int J Clin Health Psychol 2018 Jan-Apr;18(1):35-42. Epub 2017 Nov 28.

University of Helsinki, Finland.

Empathizing-Systemizing Theory suggests that low empathizing and high systemizing are linked to autistic traits in the general population. Evidence from autistic individuals is convincing, but more research in the normal population is needed. We conducted two surveys ( = 3,345) investigating the relationships between empathizing, systemizing and autistic traits in the general population, using a large variety of self-report instruments and direct performance tests. Read More

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November 2017
1 Read

Understanding and awareness of autism among Somali parents living in the United Kingdom.

Autism 2018 Nov 29:1362361318813996. Epub 2018 Nov 29.

1 University College London, UK.

Using vignettes and interviews, this study examined understanding and awareness of autism, and (a)typical development more broadly, among 32 Somali parents living in the United Kingdom. Results demonstrated that parents of both autistic (n = 16) and non-autistic (n = 16) children were just as likely to identify vignettes of typically developing children, yet parents of autistic children appeared more astute to signs of atypical development. Across the whole sample, parents commonly identified and labelled vignettes of autistic children, but experienced more difficulty labelling vignettes that described children with other forms of atypical development, sometimes mislabeling these children as autistic. Read More

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November 2018
3 Reads

[Epidemiological aspects of autism in mental health care structures in the district of Bamako, Mali].

Mali Med 2018 ;33(2):1-4

Service de psychiatrie CHU du Point G.

Aims: Autism is a global and early developmental disorder that appears before the age 3 years old. It is characterized by a triad of symptoms affecting the following domains: social interaction, verbal and non-verbal communication, imagination and behaviors. This work aimed to determine the frequency of autism and to identify its risk factors in Malians aged 0-17 years old. Read More

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January 2018
1 Read

Intranasal administration of exosomes derived from mesenchymal stem cells ameliorates autistic-like behaviors of BTBR mice.

Mol Autism 2018 21;9:57. Epub 2018 Nov 21.

1Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by three core symptoms that include social interaction deficits, cognitive inflexibility, and communication disorders. They have been steadily increasing in children over the past several years, with no effective treatment. BTBR T+tf/J (BTBR) mice are an accepted model of evaluating autistic-like behaviors as they present all core symptoms of ASD. Read More

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November 2018
2 Reads

A rare human CEP290 variant disrupts the molecular integrity of the primary cilium and impairs Sonic Hedgehog machinery.

Sci Rep 2018 Nov 26;8(1):17335. Epub 2018 Nov 26.

Program in Neuroscience, Hussman Institute for Autism, Baltimore, MD, 21201, USA.

The primary cilium is a microtubule-enriched cell-communication organelle that participates in mechanisms controlling tissue development and maintenance, including cerebellar architecture. Centrosomal protein of 290 kDa (CEP290) is a protein important for centrosomal function and ciliogenesis. Mutations in CEP290 have been linked to a group of multi-organ disorders - termed ciliopathies. Read More

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November 2018

Stability of core language skill from infancy to adolescence in typical and atypical development.

Sci Adv 2018 Nov 21;4(11):eaat7422. Epub 2018 Nov 21.

School of Social and Community Medicine, University of Bristol, Bristol, UK.

Command of language is a fundamental life skill, a cornerstone of cognitive and socioemotional development, and a necessary ingredient for successful functioning in society. We used 15-year prospective longitudinal data from the Avon Longitudinal Study of Parents and Children to evaluate two types of stability of core language skill in 5036 typically developing and 1056 atypically developing (preterm, dyslexic, autistic, and hearing impaired) children in a multiage, multidomain, multimeasure, multireporter framework. A single core language skill was extracted from multiple measures at multiple ages, and this skill proved stable from infancy to adolescence in all groups, even accounting for child nonverbal intelligence and sociability and maternal age and education. Read More

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November 2018
1 Read

[Identifying and treating autism spectrum disorders in perinatal care].

Soins Psychiatr 2018 Nov - Dec;39(319):33-39

Unité petite Enfance et parentalité, service de psychiatrie de l'enfant et de l'adolescent, Hôpital universitaire de la Pitié-Salpêtrière, 28, allée Vivaldi, 75012 Paris, France.

Severe forms of autism may be spotted by families in the first year of life, but are still rarely treated before the age of 3. Screening and early treatment are recommended to improve the children's functional prognosis. However, there is still little knowledge among perinatal and early childhood professionals of the symptomatology of autistic disorders. Read More

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November 2018
1 Read

Psychometric properties of the French Version of the Social Responsiveness Scale in autism spectrum disorder with or without attention deficit hyperactivity disorder.

Encephale 2018 Nov 20. Epub 2018 Nov 20.

Child and adolescent psychiatry department, Robert-Debré hospital, Assistance publique-Hôpitaux de Paris, 75019 Paris, France.

Objectives: The Social Responsiveness Scale (SRS) is an instrument that is commonly used to screen for Autism Spectrum Disorder (ASD). Attention Deficit Hyperactive Disorder (ADHD) frequently occurs with ASD and both disorders share some phenotypic similarities. In the present study, we aimed to determine the psychometric properties of the French version of the Social Responsiveness Scale (SRS) and its 5 subscales (social awareness, social cognition, social communication, social motivation, and autistic mannerisms) to discriminate between children with ADHD and those with ASD (differential diagnosis) and children with ADHD from those with a dual diagnosis of ADHD and ASD (comorbid diagnosis). Read More

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November 2018
2 Reads

Foot massage evokes oxytocin release and activation of orbitofrontal cortex and superior temporal sulcus.

Psychoneuroendocrinology 2018 Nov 14;101:193-203. Epub 2018 Nov 14.

The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Laboratory for NeuroInformation of Ministry of Education, Center for Information in Medicine, University of Electronic Science and Technology of China, Chengdu, China. Electronic address:

Massage may be an important method for increasing endogenous oxytocin concentrations and of potential therapeutic benefit in disorders with social dysfunction such as autism where basal oxytocin levels are typically reduced. Here we investigated oxytocin release and associated neural responses using functional near infrared spectroscopy (fNIRS) during hand- or machine-administered massage. 40 adult male subjects received 10 min of light foot massage either by hand or machine in a counterbalanced order and then rated pleasure, intensity, arousal and how much they would pay for the massage. Read More

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November 2018
14 Reads

Reduced connectivity between mentalizing and mirror systems in autism spectrum condition.

Neuropsychologia 2018 Nov 20. Epub 2018 Nov 20.

Department of Psychology, University of York, York, YO10 5DD, United Kingdom.

The mentalizing system and mirror system are thought to play important roles in inferring the internal mental states of others - a process known as mentalizing. Autism spectrum condition (ASC) is associated with difficulties in mentalizing. The aim of this study was to determine whether the behavioural difficulties in mentalizing associated with ASC can be explained by changes in functional connectivity between the mentalizing and mirror system. Read More

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November 2018
3 Reads

Autism in the Gulf States: a regional overview.

Front Biosci (Landmark Ed) 2019 01 1;24:334-346. Epub 2019 Jan 1.

Department of Behavioral Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

In this review, we provide a Gulf region-centric view on autism with special focus on Qatar and Oman, including a review of seminal Qatari/Omani work from the literature. In addition, we offer a summary from the World Innovation Summit for Health and World Innovation Summit for Education autism reports as well as outline some of the main challenges, best practices and a path forward for the Gulf region from a healthcare perspective. Finally, we highlight the role of public outreach and awareness to lay the groundwork for enlightened policy for intervention and resource allocation to care for autistic individuals. Read More

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January 2019
3 Reads

Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 Mice.

Biol Psychiatry 2018 Oct 9. Epub 2018 Oct 9.

Department of Biological Sciences, Seoul, South Korea; Center for Synaptic Brain Dysfunctions, Institute for Basic Science, Seoul, South Korea. Electronic address:

Background: Autism spectrum disorder involves neurodevelopmental dysregulations that lead to visible symptoms at early stages of life. Many autism spectrum disorder-related mechanisms suggested by animal studies are supported by demonstrated improvement in autistic-like phenotypes in adult animals following experimental reversal of dysregulated mechanisms. However, whether such mechanisms also act at earlier stages to cause autistic-like phenotypes is unclear. Read More

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October 2018

No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children.

Clin Psychopharmacol Neurosci 2018 Nov;16(4):415-421

Department of Child and Adolescent Psychiatry, School of Medicine, Mersin University, Mersin, Turkey.

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Read More

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November 2018
6 Reads

Parents' impaired emotion recognition abilities are related to children's autistic symptoms in autism spectrum disorder.

Neuropsychiatr Dis Treat 2018 5;14:2973-2980. Epub 2018 Nov 5.

Department of Psychiatry, Mental Health Center, West China Hospital of Sichuan University, Chengdu 610041, Sichuan, China,

Objective: We aimed to explore whether parents of children with autism spectrum disorder (ASD) had impaired emotion recognition abilities and whether this deficit was related to their children's autistic symptoms.

Methods: The autistic symptoms of 31 ASD children were assessed using the Autism Diagnostic Interview-Revised (ADI-R). Fifty parents of ASD children and 34 parents of typically developing (TD) children completed an emotion recognition task (ERT). Read More

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November 2018
7 Reads

The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.

BMC Psychiatry 2018 Nov 21;18(1):369. Epub 2018 Nov 21.

Centre for Integrative Biology, University of Trento, Trento, Italy.

Background: A substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy. Read More

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November 2018
2 Reads

Understanding, attitudes and dehumanisation towards autistic people.

Autism 2018 Nov 21:1362361318811290. Epub 2018 Nov 21.

Royal Holloway, University of London, UK.

Research suggests that while individuals may self-report positive attitudes towards autism, dehumanising attitudes (seeing another as less than human) may still prevail. This study investigated knowledge, openness and dehumanising attitudes of non-autistic people towards autistic people. A total of 361 participants completed a survey measuring autism openness, knowledge and experience, along with a measure of dehumanisation. Read More

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November 2018
1 Read

Florid Scurvy in an Autistic Child on a Ketogenic Diet.

Pediatr Emerg Care 2018 Nov 19. Epub 2018 Nov 19.

From the Department of Emergency Medicine (Pediatric Unit), College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.

Ketogenic diets used for treating various neurological disorders can have potentially serious adverse effects. Among these is scurvy, a rarely reported, yet potentially fatal adverse effect of the ketogenic diet caused by vitamin C deficiency. We report a case of a 5-year-old patient with autism, who presented with scurvy secondary to the dietary restrictions of a ketogenic diet. Read More

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November 2018
11 Reads

Regional and sex-dependent alterations in Purkinje cell density in the valproate mouse model of autism.

Neuroreport 2018 Nov 19. Epub 2018 Nov 19.

Physiology of Neuronal Networks.

Neuropathological and neuroimaging studies indicate a decrease in Purkinje cell (PC) density in the cerebellum of autistic patients and rodent models of autism. Autism is far more prevalent in males than females, and sex-specific properties of PCs have been reported recently. We investigated the differential sensitivity of PCs in the valproate acid (VPA) mouse model of autism by estimating the linear density of PCs immununolabelled with calbindin in the cerebellum of males and females. Read More

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November 2018
9 Reads

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.

Nat Neurosci 2018 Dec 21;21(12):1-13. Epub 2018 Nov 21.

Department of Neuroscience, Scripps Florida, Jupiter, FL, USA.

In addition to cognitive impairments, neurodevelopmental disorders often result in sensory processing deficits. However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental disorder defined by cognitive impairment, autistic features, and epilepsy, also leads to deficits in tactile-related sensory processing. Read More

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December 2018
8 Reads

Concomitant Fecal Impaction and Perforated Appendicitis in an Autistic Patient.

Am Surg 2017 Dec;83(12):e471-e473

Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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December 2017

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism.

Eur Psychiatry 2018 Nov 15;55:116-121. Epub 2018 Nov 15.

The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Israel; Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:

Background: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD. Read More

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November 2018
8 Reads

Effects of spatial consistency and individual difference on touch-induced visual suppression effect.

Sci Rep 2018 Nov 19;8(1):17018. Epub 2018 Nov 19.

Developmental Disorders Section, Department of Rehabilitation for Brain Functions, Research Institute of National Rehabilitation Center for Persons with Disabilities, 4-1, Namiki, Tokorozawa-shi, Saitama, 359-8555, Japan.

Crossmodal studies have reported not only facilitatory but also inhibitory perceptual interactions. For instance, tactile stimulation to the index finger of a hand leads to the degradation of visual discrimination performance (touch-induced visual suppression, TIVS). It has been suggested that the magnitude of TIVS depends on the spatial congruency of visuo-tactile stimuli and on individual differences in task performance. Read More

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November 2018
3 Reads

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Epilepsia 2018 Dec 19;59(12):2260-2271. Epub 2018 Nov 19.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors.

Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. Read More

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December 2018
9 Reads
4.571 Impact Factor

Neuropsychiatric profile and psychotropic medication use in adults with autism spectrum disorder: results from the Australian Longitudinal Study of Adults with Autism.

BJPsych Open 2018 Nov 13;4(6):461-466. Epub 2018 Nov 13.

Chair, Intellectual Disability Mental Health and Head of Department, Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW Sydney and Cooperative Research Centre for Living with Autism (Autism CRC), Australia.

Background: Children and adolescents with autism spectrum disorder (ASD) are a highly medicated group. Few studies have examined the neuropsychiatric profile and patterns of psychotropic medication use among adults with ASD.

Aims: To describe and compare the neuropsychiatric profile and psychotropic medication use in a cohort of adults with ASD and non-autistic controls. Read More

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November 2018
1 Read

Developmental changes of cortical white-gray contrast as predictors of autism diagnosis and severity.

Transl Psychiatry 2018 Nov 16;8(1):249. Epub 2018 Nov 16.

Montreal Neurological Institute, McGill University, Montreal, Canada.

Recent studies suggest that both cortical gray and white-matter microstructural characteristics are distinct for subjects with autism. There is a lack of evidence regarding how these characteristics change in a developmental context. We analysed a longitudinal/cross-sectional dataset of 402 magnetic resonance imaging (MRI) scans (171 subjects with autism and 231 with typical development) from the Autism Brain Imaging Data Exchange, cohorts I-II (ABIDE-I-II). Read More

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November 2018
1 Read

Parents' future visions for their autistic transition-age youth: Hopes and expectations.

Autism 2018 Nov 16:1362361318812141. Epub 2018 Nov 16.

Department of Occupational Therapy, Boston University, Boston, MA, USA.

Researchers have documented that young adults with autism spectrum disorder have poor outcomes in employment, post-secondary education, social participation, independent living, and community participation. There is a need to further explore contributing factors to such outcomes to better support successful transitions to adulthood. Parents play a critical role in transition planning, and parental expectations appear to impact young adult outcomes for autistic individuals. Read More

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November 2018
4 Reads

Gender Difference in the Association Between Executive Function and Autistic Traits in Typically Developing Children.

J Autism Dev Disord 2018 Nov 15. Epub 2018 Nov 15.

Faculty of Maternal and Child Health, School of Public Health, Sun Yat-sen University, 74 Zhong-shan Road 2, Guangzhou, 510080, China.

Autistic traits and executive function (EF) were assessed in 413 typically developing children aged 6-9 years. The children were divided into the high- autistic-trait (HAT) and low-autistic-trait (LAT) groups based on their total autistic traits. Results suggested that there were gender differences in specific autistic traits in children with LAT. Read More

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November 2018
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Knowledge, Awareness, and Perceptions Regarding Autism Among Parents in Karachi, Pakistan.

Cureus 2018 Sep 13;10(9):e3299. Epub 2018 Sep 13.

Department of Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.

Background The prevalence of autism is growing worldwide. Owing to parents being the primary caregivers in most situations, their ability to recognize the signs and symptoms of autism and respond appropriately is of paramount importance in aiming to provide the best healthcare to autistic individuals. This study was conducted with the aim of ascertaining the parent's knowledge and awareness of autism. Read More

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September 2018
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A Pilot Study of an Unobtrusive Bed-Based Sleep Quality Monitor for Severely Disabled Autistic Children.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:4343-4346

The link between daytime performance and sleep quality for severely disabled autistic children is not entirely understood. This paper presents nighttime data collected from a child with severe disabilities during a three-night pilot study conducted at Heartspring, Wichita, KS, using a bed-based system capable of unobtrusively tracking parameters for sleep quality assessment. The 'average sample correlation coefficient signal-to-noise ratio' is compared for ballistocardiograms acquired using four electromechanical film sensors versus four load cell sensors. Read More

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July 2018
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Deviations of acoustic low-level descriptors in speech features of a set of triplets, one with autism.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:3962-3966

Verbal speech of children diagnosed with ASD is explored in order to identify patterns autism has left in speech, and to model such patterns for implementing automatic diagnostic and screening frameworks. In this study, we identify the deviations of acoustic low-level descriptors (LLDs) in voice of an autistic adolescent from her typically developing triplet siblings. The goal is to identify the atypicality in voice introduced by autism under minimum gender, age, genetic, and language bias and use the gained insights to build a more generalized model by adding more subjects hierarchically. Read More

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July 2018
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Altered Connectivity in Autistic Adults during Complex Facial Emotion Recognition: A Study of EEG Imaginary Coherence.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:2752-2755

Difficulties in Facial Emotion Recognition (FER) are commonly associated with individuals diagnosed with Autism Spectrum Disorder (ASD). However, the mechanisms underlying these impairments remain inconclusive. While atypical cortical connectivity has been observed in autistic individuals, there is a paucity of investigation during cognitive tasks such as FER. Read More

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July 2018
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