Articles

Autistic traits in adults who have attempted suicide

An emerging literature suggests that autistic adults are at increased risk of experiencing suicidal thoughts, making suicidal plans and attempts, and dying by suicide. However, few studies have investigated wh...

Authors: Gareth Richards, Rebecca Kenny, Sarah Griffiths, Carrie Allison, David Mosse, Rosemary Holt, Rory C. O’Connor, Sarah Cassidy and Simon Baron-Cohen

CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes

CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been r...

Authors: Catherine Fricano-Kugler, Aaron Gordon, Grace Shin, Kun Gao, Jade Nguyen, Jamee Berg, Mary Starks and Daniel H. Geschwind

The distribution of autistic traits across the autism spectrum: evidence for discontinuous dimensional subpopulations underlying the autism continuum

A considerable amount of research has discussed whether autism and psychiatric/neurodevelopmental conditions in general are best described categorically or dimensionally. In recent years, finite mixture models...

Authors: Ahmad Abu-Akel, Carrie Allison, Simon Baron-Cohen and Dietmar Heinke

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which rea...

Authors: Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden and Ype Elgersma

Persistence of dysfunctional natural killer cells in adults with high-functioning autism spectrum disorders: stigma/consequence of unresolved early infectious events?

Autism spectrum disorders (ASD) are characterized by abnormal neurodevelopment, genetic, and environmental risk factors, as well as immune dysfunctions. Several lines of evidence suggest alterations in innate ...

Authors: Meriem Bennabi, Nadine Tarantino, Alexandru Gaman, Isabelle Scheid, Rajagopal Krishnamoorthy, Patrice Debré, Arthur Bouleau, Mireille Caralp, Sonia Gueguen, Myriam Ly Le-Moal, Manuel Bouvard, Anouck Amestoy, Richard Delorme, Marion Leboyer, Ryad Tamouza and Vincent Vieillard

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, includi...

Authors: Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria…

Autistic traits, resting-state connectivity, and absolute pitch in professional musicians: shared and distinct neural features

Recent studies indicate increased autistic traits in musicians with absolute pitch and a higher proportion of absolute pitch in people with autism. Theoretical accounts connect both of these with shared neural...

Authors: T. Wenhart, R. A. I. Bethlehem, S. Baron-Cohen and E. Altenmüller

Retinal alterations in a pre-clinical model of an autism spectrum disorder

Autism spectrum disorders (ASD) affect around 1.5% of people worldwide. Symptoms start around age 2, when children fail to maintain eye contact and to develop speech and other forms of communication. Disturban...

Authors: Elisa Maria Guimarães-Souza, Christina Joselevitch, Luiz Roberto G. Britto and Silvana Chiavegatto

A ‘choice’, an ‘addiction’, a way ‘out of the lost’: exploring self-injury in autistic people without intellectual disability

Non-suicidal self-injury (NSSI) describes a phenomenon where individuals inflict deliberate pain and tissue damage to their bodies. Self-injurious behaviour is especially prevalent across the autism spectrum, ...

Authors: R. L. Moseley, N. J. Gregory, P. Smith, C. Allison and S. Baron-Cohen

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also be...

Authors: Jaume Forés-Martos, Ferrán Catalá-López, Jon Sánchez-Valle, Kristina Ibáñez, Héctor Tejero, Helena Palma-Gudiel, Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia and Rafael Tabarés-Seisdedos

The role of gender in the perception of autism symptom severity and future behavioral development

Increasing attention is being paid to the higher prevalence of boys with Autism Spectrum Disorder (ASD) and to the implications of this ratio discrepancy on our understanding of autism in girls. One recent ave...

Authors: Philippine Geelhand, Philippe Bernard, Olivier Klein, Bob van Tiel and Mikhail Kissine

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

Mutations of the SCN2A gene encoding a voltage-gated sodium channel alpha-II subunit Nav1.2 are associated with neurological disorders such as epilepsy, autism spectrum disorders, intellectual disability, and sch...

Authors: Tetsuya Tatsukawa, Matthieu Raveau, Ikuo Ogiwara, Satoko Hattori, Hiroyuki Miyamoto, Emi Mazaki, Shigeyoshi Itohara, Tsuyoshi Miyakawa, Mauricio Montal and Kazuhiro Yamakawa

Linguistic markers of autism in girls: evidence of a “blended phenotype” during storytelling

Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in soc...

Authors: Jaclin Boorse, Meredith Cola, Samantha Plate, Lisa Yankowitz, Juhi Pandey, Robert T. Schultz and Julia Parish-Morris

Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder

Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early dev...

Authors: Giorgia Bussu, Emily J. H. Jones, Tony Charman, Mark H. Johnson and Jan K. Buitelaar

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism

Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin rece...

Authors: Florina Uzefovsky, Richard A. I. Bethlehem, Simone Shamay-Tsoory, Amber Ruigrok, Rosemary Holt, Michael Spencer, Lindsay Chura, Varun Warrier, Bhismadev Chakrabarti, Ed Bullmore, John Suckling, Dorothea Floris and Simon Baron-Cohen

A multifaceted approach for analyzing complex phenotypic data in rodent models of autism

Autism (MIM 209850) is a multifactorial disorder with a broad clinical presentation. A number of high-confidence ASD risk genes are known; however, the contribution of non-genetic environmental factors towards...

Authors: Ishita Das, Marcel A. Estevez, Anjali A. Sarkar and Sharmila Banerjee-Basu

Atypical event-related potentials revealed during the passive parts of a Go-NoGo task in autism spectrum disorder: a case-control study

The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, a...

Authors: Anne L. Høyland, Terje Nærland, Morten Engstrøm, Tonje Torske, Stian Lydersen and Ole A. Andreassen

Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis

Current global estimates suggest the proportion of the population with autism spectrum disorder (ASD) who have intellectual disability (ID) is approximately 50%. Our objective was to ascertain the existence of...

Authors: Ginny Russell, William Mandy, Daisy Elliott, Rhianna White, Tom Pittwood and Tamsin Ford

The within-subject application of diffusion tensor MRI and CLARITY reveals brain structural changes in Nrxn2 deletion mice

Of the many genetic mutations known to increase the risk of autism spectrum disorder, a large proportion cluster upon synaptic proteins. One such family of presynaptic proteins are the neurexins (NRXN), and re...

Authors: Eleftheria Pervolaraki, Adam L. Tyson, Francesca Pibiri, Steven L. Poulter, Amy C. Reichelt, R. John Rodgers, Steven J. Clapcote, Colin Lever, Laura C. Andreae and James Dachtler

Autism prevalence in China is comparable to Western prevalence

Autism prevalence in the West is approximately 1% of school age children. Autism prevalence in China has been reported to be lower than in the West. This is likely due to at least two reasons: (1) most studies...

Authors: Xiang Sun, Carrie Allison, Liping Wei, Fiona E. Matthews, Bonnie Auyeung, Yu Yu Wu, Sian Griffiths, Jie Zhang, Simon Baron-Cohen and Carol Brayne

Rigor in science and science reporting: updated guidelines for submissions to Molecular Autism

Authors: Joseph D. Buxbaum, Simon Baron-Cohen, Evdokia Anagnostou, Chris Ashwin, Catalina Betancur, Bhismadev Chakrabarti, Jacqueline N. Crawley, Rosa A. Hoekstra, Patrick R. Hof, Meng-Chuan Lai, Michael V. Lombardo and Cynthia M. Schumann

Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice

Autism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, ...

Authors: Tzyy-Nan Huang, Tzu-Li Yen, Lily R. Qiu, Hsiu-Chun Chuang, Jason P. Lerch and Yi-Ping Hsueh

Sensory over-responsivity: parent report, direct assessment measures, and neural architecture

Sensory processing difficulties are common across neurodevelopmental disorders. Thus, reliable measures are needed to understand the biological underpinnings of these differences. This study aimed to define a ...

Authors: Teresa Tavassoli, Anne Brandes-Aitken, Robyn Chu, Lisa Porter, Sarah Schoen, Lucy Jane Miller, Molly Rae Gerdes, Julia Owen, Pratik Mukherjee and Elysa J. Marco

Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism

Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occur...

Authors: David M. James, Robert A. Kozol, Yuji Kajiwara, Adam L. Wahl, Emily C. Storrs, Joseph D. Buxbaum, Mason Klein, Baharak Moshiree and Julia E. Dallman

Lower circulating endocannabinoid levels in children with autism spectrum disorder

The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In so...

Authors: Adi Aran, Maya Eylon, Moria Harel, Lola Polianski, Alina Nemirovski, Sigal Tepper, Aviad Schnapp, Hanoch Cassuto, Nadia Wattad and Joseph Tam

Autism spectrum disorders, endocrine disrupting compounds, and heavy metals in amniotic fluid: a case-control study

Evidence has indicated that some non-inherited factors such as exposure to environmental pollutants are associated with neurodevelopment disorders like autism spectrum disorder (ASD). Studies report that endoc...

Authors: Manhai Long, Mandana Ghisari, Lisbeth Kjeldsen, Maria Wielsøe, Bent Nørgaard-Pedersen, Erik Lykke Mortensen, Morsi W. Abdallah and Eva C. Bonefeld-Jørgensen

Functional MRI connectivity of children with autism and low verbal and cognitive performance

Functional neuroimaging research in autism spectrum disorder has reported patterns of decreased long-range, within-network, and interhemispheric connectivity. Research has also reported increased corticostriat...

Authors: Terisa P. Gabrielsen, Jeff S. Anderson, Kevin G. Stephenson, Jonathan Beck, Jace B. King, Ryan Kellems, David N. Top Jr, Nicholas C. C. Russell, Emily Anderberg, Rebecca A. Lundwall, Blake Hansen and Mikle South

Neuroglia in the autistic brain: evidence from a preclinical model

Neuroglial cells that provide homeostatic support and form defence of the nervous system contribute to all neurological disorders. We analyzed three major types of neuroglia, astrocytes, oligodendrocytes, and ...

Authors: Maria Rosanna Bronzuoli, Roberta Facchinetti, Davide Ingrassia, Michela Sarvadio, Sara Schiavi, Luca Steardo, Alexei Verkhratsky, Viviana Trezza and Caterina Scuderi

Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons

Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a tra...

Authors: Qiong Xu, Yuan-yuan Liu, Xiaoming Wang, Guo-he Tan, Hui-ping Li, Samuel W. Hulbert, Chun-yang Li, Chun-chun Hu, Zhi-qi Xiong, Xiu Xu and Yong-hui Jiang

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patien...

Authors: Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang…

Modeling the quantitative nature of neurodevelopmental disorders using Collaborative Cross mice

Animal models for neurodevelopmental disorders (NDD) generally rely on a single genetic mutation on a fixed genetic background. Recent human genetic studies however indicate that a clinical diagnosis with Auti...

Authors: Remco T. Molenhuis, Hilgo Bruining, Myrna J. V. Brandt, Petra E. van Soldt, Hanifa J. Abu-Toamih Atamni, J. Peter H. Burbach, Fuad A. Iraqi, Richard F. Mott and Martien J. H. Kas

Diffusional kurtosis imaging of the corpus callosum in autism

The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). However, specific structural deficits and underlying mechanisms are yet to be well defined.

Authors: Yu Veronica Sui, Jeffrey Donaldson, Laura Miles, James S. Babb, Francisco Xavier Castellanos and Mariana Lazar

The valproic acid rat model of autism presents with gut bacterial dysbiosis similar to that in human autism

Gut microbiota has the capacity to impact the regular function of the brain, which can in turn affect the composition of microbiota. Autism spectrum disorder (ASD) patients suffer from gastrointestinal problem...

Authors: Fang Liu, Kayla Horton-Sparks, Vanessa Hull, Robert W. Li and Verónica Martínez-Cerdeño

Brain hyperserotonemia causes autism-relevant social deficits in mice

Hyperserotonemia in the brain is suspected to be an endophenotype of autism spectrum disorder (ASD). Reducing serotonin levels in the brain through modulation of serotonin transporter function may improve ASD ...

Authors: Miho Tanaka, Atsushi Sato, Shinya Kasai, Yoko Hagino, Hiroko Kotajima-Murakami, Hirofumi Kashii, Yukio Takamatsu, Yasumasa Nishito, Masumi Inagaki, Masashi Mizuguchi, F. Scott Hall, George R. Uhl, Dennis Murphy, Ichiro Sora and Kazutaka Ikeda

A pilot dose finding study of pioglitazone in autistic children

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

Authors: Lucia Capano, Annie Dupuis, Jessica Brian, Deepali Mankad, Lisa Genore, Rianne Hastie Adams, Sharon Smile, Toni Lui, Dina Odrobina, Jane A. Foster and Evdokia Anagnostou

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

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 psycho...

Authors: Sarah L. Barrett, Mirko Uljarević, Catherine R. G. Jones and Susan R. Leekam

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

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by three core symptoms that include social interaction deficits, cognitive inflexibility, and communication disorders. They have b...

Authors: Nisim Perets, Stav Hertz, Michael London and Daniel Offen

Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. ...

Authors: Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K. Lim, Meng-Miao Tsai, Boyan K. Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J. Guillemin, Simone Fulda, Christine M. Freitag and Andreas G. Chiocchetti

A cross-cultural study of autistic traits across India, Japan and the UK

There is a global need for brief screening instruments that can identify key indicators for autism to support frontline professionals in their referral decision-making. Although a universal set of conditions, ...

Authors: Sophie Carruthers, Emma Kinnaird, Alokananda Rudra, Paula Smith, Carrie Allison, Bonnie Auyeung, Bhismadev Chakrabarti, Akio Wakabayashi, Simon Baron-Cohen, Ioannis Bakolis and Rosa A Hoekstra

Does stereopsis account for the link between motor and social skills in adults?

Experimental and longitudinal evidence suggests that motor proficiency plays an important role in the development of social skills. However, stereopsis, or depth perception, may also play a fundamental role in...

Authors: Danielle Smith, Danielle Ropar and Harriet A Allen

Subcellular organization of UBE3A in human cerebral cortex

Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be lea...

Authors: Alain C. Burette, Matthew C. Judson, Alissa N. Li, Edward F. Chang, William W. Seeley, Benjamin D. Philpot and Richard J. Weinberg

Savant syndrome has a distinct psychological profile in autism

Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills...

Authors: James E A Hughes, Jamie Ward, Elin Gruffydd, Simon Baron-Cohen, Paula Smith, Carrie Allison and Julia Simner

Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism

Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits...

Authors: Kritika Nayar, Peter C Gordon, Gary E Martin, Abigail L Hogan, Chelsea La Valle, Walker McKinney, Michelle Lee, Elizabeth S Norton and Molly Losh

Alterations in electrophysiological indices of perceptual processing and discrimination are associated with co-occurring emotional and behavioural problems in adolescents with autism spectrum disorder

Many young people with autism spectrum disorder (ASD) experience emotional and behavioural problems. However, the causes of these co-occurring difficulties are not well understood. Perceptual processing atypic...

Authors: Virginia Carter Leno, Susie Chandler, Pippa White, Isabel Yorke, Tony Charman, Andrew Pickles and Emily Simonoff

The effect of age on vertex-based measures of the grey-white matter tissue contrast in autism spectrum disorder

Histological evidence suggests that autism spectrum disorder (ASD) is accompanied by a reduced integrity of the grey-white matter boundary. This has also recently been confirmed by a structural neuroimaging st...

Authors: Caroline Mann, Anke Bletsch, Derek Andrews, Eileen Daly, Clodagh Murphy, Declan Murphy and Christine Ecker

Clustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models

Autism spectrum disorders (ASDs) are a heterogeneous group of behaviorally defined disorders and are associated with hundreds of rare genetic mutations and several environmental risk factors. Mouse models of s...

Authors: Emily A. Brown, Jonathan D. Lautz, Tessa R. Davis, Edward P. Gniffke, Alison A. W. VanSchoiack, Steven C. Neier, Noah Tashbook, Chiara Nicolini, Margaret Fahnestock, Adam G. Schrum and Stephen E. P. Smith

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants

Angelman syndrome (AS) is a neurodevelopmental disorder caused by mutations affecting UBE3A function. AS is characterized by intellectual disability, impaired motor coordination, epilepsy, and behavioral abnor...

Authors: Monica Sonzogni, Ilse Wallaard, Sara Silva Santos, Jenina Kingma, Dorine du Mee, Geeske M. van Woerden and Ype Elgersma

The impact of robotic intervention on joint attention in children with autism spectrum disorders

A growing body of anecdotal evidence indicates that the use of robots may provide unique opportunities for assisting children with autism spectrum disorders (ASD). However, previous studies investigating the e...

Authors: Hirokazu Kumazaki, Yuichiro Yoshikawa, Yuko Yoshimura, Takashi Ikeda, Chiaki Hasegawa, Daisuke N. Saito, Sara Tomiyama, Kyung-min An, Jiro Shimaya, Hiroshi Ishiguro, Yoshio Matsumoto, Yoshio Minabe and Mitsuru Kikuchi

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome

Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A (UBE3A), which is genomically imprinted such that only the mat...

Authors: Hyeong-Min Lee, Ellen P. Clark, M. Bram Kuijer, Mark Cushman, Yves Pommier and Benjamin D. Philpot

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells

Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital ...

Authors: Jesse Barnes, Franklin Salas, Ryan Mokhtari, Hedwig Dolstra, Erika Pedrosa and Herbert M. Lachman