518 results match your criteria occur autistic

Examining the association between childhood autistic traits and adolescent hypomania: a longitudinal twin study.

Psychol Med 2021 Apr 8:1-10. Epub 2021 Apr 8.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Background: There is evidence that autism spectrum disorders (ASDs) co-occur with bipolar disorder (BD) relatively frequently. Individuals with BD often report symptoms of mania and hypomania during adolescence, prior to the age of onset for BD. It is unknown whether these symptoms are associated with ASDs. Read More

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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

Am J Hum Genet 2021 04 5;108(4):597-607. Epub 2021 Mar 5.

Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA; Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA. Electronic address:

Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. Whereas the rate and patterns of point mutations in the human germline are now well understood, far less is known about the frequency and features that impact de novo structural variants (dnSVs). Read More

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Feeding and eating problems in children and adolescents with autism: A scoping review.

Autism 2021 Mar 2:1362361321995631. Epub 2021 Mar 2.

University of Calgary, Canada.

Lay Abstract: Feeding problems, such as picky eating and food avoidance, are common in youth with autism. Other, broader difficulties with feeding and eating (eating disorder symptoms such as restricting food intake or preoccupation with body shape or weight and insistence on specific food presentation) are also common in autistic individuals. Here, we describe the nature and extent of feeding and eating problems in youth with autism. Read More

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What is the relationship between Aphantasia, Synaesthesia and Autism?

Conscious Cogn 2021 Mar 3;89:103087. Epub 2021 Feb 3.

School of Psychology, University of Sussex, BN1 9QJ, UK.

For people with aphantasia, visual imagery is absent or markedly impaired. Here, we investigated the relationship between aphantasia and two other neurodevelopmental conditions also linked to imagery differences: synaesthesia, and autism. In Experiment 1a and 1b, we asked whether aphantasia and synaesthesia can co-occur, an important question given that synaesthesia is linked to strong imagery. Read More

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Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability.

Neurobiol Dis 2021 01 1;148:105213. Epub 2020 Dec 1.

Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20814, United States of America. Electronic address:

SHANK3 is a postsynaptic scaffolding protein that plays a critical role in synaptic development and brain function. Mutations in SHANK3 are implicated in Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder characterized by autistic-like behavior, delayed speech, hypotonia, and intellectual disability (ID). Moreover, mutations in SHANK3 occur in 1-2% of cases of idiopathic autism spectrum disorder (ASD). Read More

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January 2021

Development and evaluation of a novel caregiver-report tool to assess barriers to physical healthcare for people on the autism spectrum.

Res Autism Spectr Disord 2020 Nov 14;79:101680. Epub 2020 Oct 14.

Department of General Practice, School of Medicine, National University of Ireland Galway, Ireland.

Introduction: People on the autism spectrum often experience poorer health than the general population despite higher engagement with the health services. This suggests a disparity in the accessibility of appropriate healthcare for autistic individuals. To improve access, barriers the autism community experience in healthcare first need to be identified. Read More

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November 2020

Family History of Eating Disorder and the Broad Autism Phenotype in Autism.

Autism Res 2020 09 5;13(9):1573-1581. Epub 2020 Sep 5.

University of Miami Miller School of Medicine, Miami, FL, USA.

Autism features occur frequently among individuals with eating disorders (ED). This co-occurrence is not well understood but there is speculation that select traits (e.g. Read More

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September 2020

Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children.

Int J Mol Sci 2020 Aug 27;21(17). Epub 2020 Aug 27.

Department of Biomedical and Biotechnological Sciences, Section of Biology and Genetics G. Sichel, University of Catania, 95123 Catania, Italy.

Recent evidence has demonstrated that salivary molecules, as well as bacterial populations, can be perturbed by several pathological conditions, including neuro-psychiatric diseases. This relationship between brain functionality and saliva composition could be exploited to unveil new pathological mechanisms of elusive diseases, such as Autistic Spectrum Disorder (ASD). We performed a combined approach of miRNA expression profiling by NanoString technology, followed by validation experiments in qPCR, and 16S rRNA microbiome analysis on saliva from 53 ASD and 27 neurologically unaffected control (NUC) children. Read More

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Molecular and Therapeutic Aspects of Hyperbaric Oxygen Therapy in Neurological Conditions.

Biomolecules 2020 08 27;10(9). Epub 2020 Aug 27.

The Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel.

In hyperbaric oxygen therapy (HBOT), the subject is placed in a chamber containing 100% oxygen gas at a pressure of more than one atmosphere absolute. This treatment is used to hasten tissue recovery and improve its physiological aspects, by providing an increased supply of oxygen to the damaged tissue. In this review, we discuss the consequences of hypoxia, as well as the molecular and physiological processes that occur in subjects exposed to HBOT. Read More

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Synaesthesia and autism: Different developmental outcomes from overlapping mechanisms?

Cogn Neuropsychol 2020 Oct - Dec;37(7-8):433-449. Epub 2020 Aug 26.

School of Psychology, University of Sussex, Brighton, UK.

Synaesthesia, a mixing of the senses, is more common in individuals with autism. Here, we review the evidence for the association between synaesthesia and autism with regard to their genetic background, brain connectivity, perception, cognitive mechanisms and their contribution to exceptional talents. Currently, the overlap between synaesthesia and autism is established most convincingly at the level of alterations in sensory sensitivity and perception, with synaesthetes showing autism-like profiles of sensory sensitivity and a bias towards details in perception. Read More

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February 2021

Brief Report: Facial Asymmetry and Autistic-Like Traits in the General Population.

J Autism Dev Disord 2021 Jun;51(6):2115-2123

Telethon Kids Institute, University of Western Australia, 100 Roberts Rd, Subiaco, WA, 6008, Australia.

Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). Many cognitive, behavioural and biological features associated with ASC also occur on a continuum in the general population. The aim of the present study was to examine subthreshold levels of autistic traits and facial morphology in non-autistic individuals. Read More

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Autism treatment with stem cells: a case report.

Eur Rev Med Pharmacol Sci 2020 08;24(15):8075-8080

Clinic Orto MD-Global Care Surgery Hospital, Novi Sad, Serbia.

Objective: Autism Spectrum Disorder is a complex brain disorder and has multiple causes that occur in diverse combinations. There is a need to classify children with ASD at a very young age so that they can access evidence-based intervention that can significantly improve their outcomes.

Case Report: In this report we present a case of autism, which underwent intrathecal autologous bone marrow mononuclear cells transplantation along with neurorehabilitation. Read More

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Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women.

Elife 2020 08 4;9. Epub 2020 Aug 4.

Laboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy.

Excitation-inhibition (E:I) imbalance is theorized as an important pathophysiological mechanism in autism. Autism affects males more frequently than females and sex-related mechanisms (e.g. Read More

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Development of Neural Structure and Function in Autism Spectrum Disorder: Potential Implications for Learning Language.

Am J Speech Lang Pathol 2020 11 22;29(4):1783-1797. Epub 2020 Jul 22.

Department of Communication Sciences and Disorders, Pennsylvania State University, University Park.

Purpose Neurodevelopmental processes that begin during gestation and continue throughout childhood typically support language development. Understanding these processes can help us to understand the disruptions to language that occur in neurodevelopmental conditions, such as autism spectrum disorder (ASD). Method For this tutorial, we conducted a focused literature review on typical postnatal brain development and structural and functional magnetic resonance imaging, diffusion tensor imaging, magnetoencephalography, and electroencephalography studies of the neurodevelopmental differences that occur in ASD. Read More

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November 2020

Increased repetitive self-grooming occurs in Pax2 mutant mice generated using CRISPR/Cas9.

Behav Brain Res 2020 09 9;393:112803. Epub 2020 Jul 9.

Nephrology Division, Shanxi Provincial People's Hospital, Affiliate of Shanxi Medical University, Taiyuan, China. Electronic address:

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive or restricted interest and behaviors. However, the specific pathogenesis of ASD is still unclear. It has been widely accepted that genetic and environmental risk factors are associated with the pathogenesis of ASD. Read More

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September 2020

A Whole-Brain Cell-Type-Specific Sparse Neuron Labeling Method and Its Application in a Autistic Mouse Model.

Front Cell Neurosci 2020 5;14:145. Epub 2020 Jun 5.

Department of Neurobiology, School of Basic Medicine, Fourth Military Medical University, Xi'an, China.

Single neurons, as the basic unit of the brain, consist of a cell body and processes, including dendrites and axons. Even neurons of the same type show various subtle process characteristics to fit into the diverse neural circuits. Different cell types of neurons form complicated circuits in the brain. Read More

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Dysregulation of Neurite Outgrowth and Cell Migration in Autism and Other Neurodevelopmental Disorders.

Adv Neurobiol 2020 ;25:109-153

Department of Neuroscience and Cell Biology/Pediatrics, Rutgers Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.

Despite decades of study, elucidation of the underlying etiology of complex developmental disorders such as autism spectrum disorder (ASD), schizophrenia (SCZ), intellectual disability (ID), and bipolar disorder (BPD) has been hampered by the inability to study human neurons, the heterogeneity of these disorders, and the relevance of animal model systems. Moreover, a majority of these developmental disorders have multifactorial or idiopathic (unknown) causes making them difficult to model using traditional methods of genetic alteration. Examination of the brains of individuals with ASD and other developmental disorders in both post-mortem and MRI studies shows defects that are suggestive of dysregulation of embryonic and early postnatal development. Read More

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November 2020

Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families.

J Autism Dev Disord 2021 Jan;51(1):276-285

Institute of Biological Psychiatry, Sct. Hans Hospital, Mental Health Center Capital Region of Denmark, Boserupvej 2, 4000, Roskilde, Denmark.

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. Read More

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January 2021

C reactive protein elevation among children or among mothers' of children with autism during pregnancy, a review and meta-analysis.

BMC Psychiatry 2020 05 24;20(1):251. Epub 2020 May 24.

McMaster University, Hamilton, Ontario, Canada.

Objective: To evaluate if children with ASD, or mothers of ASD children have elevated CRP during pregnancy.

Background: Autism spectrum disorder (ASD) is a neuro developmental disorder with incidence of 1 in 68 children occur in all racial, ethnic, and socioeconomic groups. Economic burden between $11. Read More

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Generalized Effects of Naturalistic Social Communication Intervention for Minimally Verbal Children with Autism.

J Autism Dev Disord 2021 Jan;51(1):75-87

Vanderbilt University, Nashville, TN, USA.

JASP-EMT, the combined Enhanced Milieu Teaching (EMT) and Joint Attention, Structured Play, and Emotion Regulation (JASPER) interventions, has been found to be effective for promoting social communication in young children with autism (Kasari et al. in J Am Acad Child Adolesc Psychiatry 53(6):635-646, https://doi.org/10. Read More

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January 2021

Vaccines for measles, mumps, rubella, and varicella in children.

Cochrane Database Syst Rev 2020 04 20;4:CD004407. Epub 2020 Apr 20.

Azienda Sanitaria Locale ASL AL, Servizio Regionale di Riferimento per l'Epidemiologia, SSEpi-SeREMI, Via Venezia 6, Alessandria, Italy, 15121.

Background: Measles, mumps, rubella, and varicella (chickenpox) are serious diseases that can lead to serious complications, disability, and death. However, public debate over the safety of the trivalent MMR vaccine and the resultant drop in vaccination coverage in several countries persists, despite its almost universal use and accepted effectiveness. This is an update of a review published in 2005 and updated in 2012. Read More

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Playful but Mindful: How to Best Use Positive Affect in Treating Toddlers With Autism.

J Am Acad Child Adolesc Psychiatry 2020 03;59(3):336-338

Center for Mental Health, University of Pennsylvania School of Medicine, Philadelphia. Electronic address:

The best-tested treatments for toddlers with autism spectrum disorder (ASD) are grounded in the principles of applied behavioral analysis (ABA) and blended with developmental science. Examples include Project ImPACT and Early Start Denver Model, among others. ABA-based behavioral interventions use conditioned reinforcement of target behaviors by giving the child access to desired objects and activities as a consequence of performing target behaviors. Read More

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Am J Hum Genet 2020 02 9;106(2):234-245. Epub 2020 Jan 9.

Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.

Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylation. Cytosine methylation (5-methylcytosine [5mC]) of DNA is the quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has yet been delineated. Read More

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February 2020

Multiorgan involvement and management in children with Down syndrome.

Acta Paediatr 2020 06 24;109(6):1096-1111. Epub 2020 Jan 24.

Paediatrics, Academic Centre, Tallaght Hospital, Trinity College, The University of Dublin, Ireland.

Aim: To review multiorgan involvement and management in children with Down syndrome (DS).

Methods: A literature review of articles from 1980 to 2019 using the MEDLINE interface of PubMed was performed using the following search terms- [Down syndrome] or [Trisomy 21] AND [Cardiology] or [Respiratory] or [neurodevelopment] or [epilepsy] or [musculoskeletal] or [immune system] or [haematological] or [endocrine] or [gastrointestinal] or [ophthalmological] or [Ear Nose Throat] or [dermatology] or [renal].

Results: Congenital heart disease particularly septal defects occur in over 60% of infants with DS and 5%-34% of infants develop persistent pulmonary hypertension of the newborn irrespective of a diagnosis of congenital heart disease. Read More

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Autism-like behaviors in male mice with a Pcdh19 deletion.

Mol Brain 2019 11 20;12(1):95. Epub 2019 Nov 20.

Department of Pharmacology, BK21 PLUS Project for Medical Science, Brain Research Institute, Yonsei University College of Medicine, Seoul, 03722, Korea.

Mutations in protocadherin 19 (PCDH19), which is on the X-chromosome, cause the brain disease Epilepsy in Females with Mental Retardation (EFMR). EFMR is also often associated with autism-like symptoms. In mice and humans, epilepsy occurs only in heterozygous females who have a mixture of PCDH19 wild-type (WT) and mutant cells caused by random X-inactivation; it does not occur in hemizygous PCDH19 mutant males. Read More

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November 2019

Autism and depression are connected: A report of two complimentary network studies.

Autism 2020 04 10;24(3):680-692. Epub 2019 Nov 10.

University of Amsterdam, The Netherlands.

Autism and depression often co-occur. Through network analysis, we seek to gain a better understanding of this co-occurrence by investigating whether (1) autism and depression share overlapping groups of symptoms and/or (2) are connected through a bridge of mastery or worry symptoms. This is addressed in two complimentary studies: (1) Study 1 focusing on depressed ( = 258) and non-depressed adults ( = 117), aged 60-90 years; (2) Study 2 focusing on autistic ( = 173) and non-autistic adults ( = 70), aged 31-89 years. Read More

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7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.

Epilepsy Res 2019 12 1;158:106223. Epub 2019 Nov 1.

Pediatrics and Pediatric Emergency Complex Unity, University-Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.

Introduction: Duplication of long arm of chromosome 7(q) is uncommon. It may occur as "pure", isolated anomaly or in association with other mutations involving the same or other chromosomes. "Pure" chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Read More

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December 2019

Autistic traits in synaesthesia: atypical sensory sensitivity and enhanced perception of details.

Philos Trans R Soc Lond B Biol Sci 2019 12 21;374(1787):20190024. Epub 2019 Oct 21.

Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.

In synaesthetes, specific sensory stimuli (e.g. black letters) elicit additional experiences (e. Read More

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December 2019