Articles

Objective measurement of head movement differences in children with and without autism spectrum disorder

Deficits in motor movement in children with autism spectrum disorder (ASD) have typically been characterized qualitatively by human observers. Although clinicians have noted the importance of atypical head pos...

Authors: Katherine B. Martin, Zakia Hammal, Gang Ren, Jeffrey F. Cohn, Justine Cassell, Mitsunori Ogihara, Jennifer C. Britton, Anibal Gutierrez and Daniel S. Messinger

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)

Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognitio...

Authors: Stavros Stivaros, Shruti Garg, Maria Tziraki, Ying Cai, Owen Thomas, Joseph Mellor, Andrew A. Morris, Carly Jim, Karolina Szumanska-Ryt, Laura M Parkes, Hamied A. Haroon, Daniela Montaldi, Nicholas Webb, John Keane, Francisco X. Castellanos, Alcino J. Silva…

Insulin receptor sensitization restores neocortical excitation/inhibition balance in a mouse model of autism

Met receptor tyrosine kinase regulates neurogenesis, differentiation, migration, connectivity, and synaptic plasticity. The human Met gene has been identified as a prominent risk factor for autism spectrum disord...

Authors: Fu-Sun Lo and Reha S. Erzurumlu

Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis

Clinical chemistry tests for autism spectrum disorder (ASD) are currently unavailable. The aim of this study was to explore the diagnostic utility of proteotoxic biomarkers in plasma and urine, plasma protein ...

Authors: Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J. Thornalley and Naila Rabbani

Impairment of social behaviors in Arhgef10 knockout mice

Impaired social interaction is one of the essential features of autism spectrum disorder (ASD). Our previous copy number variation (CNV) study discovered a novel deleted region associated with ASD. One of the ...

Authors: Dai-Hua Lu, Hsiao-Mei Liao, Chia-Hsiang Chen, Huang-Ju Tu, Houng-Chi Liou, Susan Shur-Fen Gau and Wen-Mei Fu

Alterations in the inferior longitudinal fasciculus in autism and associations with visual processing: a diffusion-weighted MRI study

One of the most reported neural features of autism spectrum disorder (ASD) is the alteration of multiple long-range white matter fiber tracts, as assessed by diffusion-weighted imaging and indexed by reduced f...

Authors: Bart Boets, Lien Van Eylen, Kevin Sitek, Pieter Moors, Ilse Noens, Jean Steyaert, Stefan Sunaert and Johan Wagemans

Altered reward system reactivity for personalized circumscribed interests in autism

Neurobiological research in autism spectrum disorders (ASD) has paid little attention on brain mechanisms that cause and maintain restricted and repetitive behaviors and interests (RRBIs). Evidence indicates a...

Authors: Gregor Kohls, Ligia Antezana, Maya G. Mosner, Robert T. Schultz and Benjamin E. Yerys

The bidirectional association between sleep problems and autism spectrum disorder: a population-based cohort study

Sleep difficulties are prevalent in children with autism spectrum disorder (ASD). The temporal nature of the association between sleep problems and ASD is unclear because longitudinal studies are lacking. Our ...

Authors: Maria E. Verhoeff, Laura M. E. Blanken, Desana Kocevska, Viara R. Mileva-Seitz, Vincent W. V. Jaddoe, Tonya White, Frank Verhulst, Maartje P. C. M. Luijk and Henning Tiemeier

Facial expression recognition as a candidate marker for autism spectrum disorder: how frequent and severe are deficits?

Impairments in social communication are a core feature of Autism Spectrum Disorder (ASD). Because the ability to infer other people’s emotions from their facial expressions is critical for many aspects of soci...

Authors: E. Loth, L. Garrido, J. Ahmad, E. Watson, A. Duff and B. Duchaine

Oscillatory rhythm of reward: anticipation and processing of rewards in children with and without autism

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, and multiple theories have emerged concerning core social deficits. While the social motivation hypothesis proposes that deficits in th...

Authors: Katherine Kuhl-Meltzoff Stavropoulos and Leslie J. Carver

Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons

The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level.

Authors: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges and Lawrence T. Reiter

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic d...

Authors: Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal and Tjitske Kleefstra

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (...

Authors: Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid and Terje Nærland

Effect of epilepsy on autism symptoms in Angelman syndrome

Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topi...

Authors: Kristin A. Bakke, Patricia Howlin, Lars Retterstøl, Øivind J. Kanavin, Arvid Heiberg and Terje Nærland

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Alt...

Authors: Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang and Brian Hon-Yin Chung

Sparsifying machine learning models identify stable subsets of predictive features for behavioral detection of autism

Autism spectrum disorder (ASD) diagnosis can be delayed due in part to the time required for administration of standard exams, such as the Autism Diagnostic Observation Schedule (ADOS). Shorter and potentially...

Authors: Sebastien Levy, Marlena Duda, Nick Haber and Dennis P. Wall

No preliminary evidence of differences in astrocyte density within the white matter of the dorsolateral prefrontal cortex in autism

While evidence for white matter and astrocytic abnormalities exist in autism, a detailed investigation of astrocytes has not been conducted. Such an investigation is further warranted by an increasing role for...

Authors: Ting Ting Lee, Efstratios Skafidas, Mirella Dottori, Daniela Zantomio, Christos Pantelis, Ian Everall and Gursharan Chana

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding...

Authors: Anne Masi, Edmond J. Breen, Gail A. Alvares, Nicholas Glozier, Ian B. Hickie, Anna Hunt, Jennie Hui, John Beilby, David Ravine, John Wray, Andrew J. O. Whitehouse and Adam J. Guastella

Early development of infants with neurofibromatosis type 1: a case series

Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Comple...

Authors: Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman and Mark Henry Johnson

Initial evidence that non-clinical autistic traits are associated with lower income

Among non-clinical samples, autistic traits correlate with a range of educational and social outcomes. However, previous work has not investigated the relationship between autistic traits and income, a key det...

Authors: William J. Skylark and Simon Baron-Cohen

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a...

Authors: Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari and Stephen W. Scherer

Specificity of executive function and theory of mind performance in relation to attention-deficit/hyperactivity symptoms in autism spectrum disorders

Individuals with autism spectrum disorder (ASD) frequently demonstrate symptoms of attention-deficit/hyperactivity disorder (ADHD). Previous findings in children with ASD have suggested that these symptoms are...

Authors: Steve Lukito, Catherine R. G. Jones, Andrew Pickles, Gillian Baird, Francesca Happé, Tony Charman and Emily Simonoff

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small...

Authors: Caitlin C. Clements, Tara L. Wenger, Alisa R. Zoltowski, Jennifer R. Bertollo, Judith S. Miller, Ashley B. de Marchena, Lauren M. Mitteer, John C. Carey, Benjamin E. Yerys, Elaine H. Zackai, Beverly S. Emanuel, Donna M. McDonald-McGinn and Robert T. Schultz

Prospective investigation of FOXP1 syndrome

Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described t...

Authors: Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S. Wallace, Heather C. Mefford, Raphael A. Bernier, Alexander Kolevzon…

RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies wit...

Authors: Natasha L. Pacheco, Michael R. Heaven, Leanne M. Holt, David K. Crossman, Kristin J. Boggio, Scott A. Shaffer, Daniel L. Flint and Michelle L. Olsen

The GapMap project: a mobile surveillance system to map diagnosed autism cases and gaps in autism services globally

Although the number of autism diagnoses is on the rise, we have no evidence-based tracking of size and severity of gaps in access to autism-related resources, nor do we have methods to geographically triangula...

Authors: Jena Daniels, Jessey Schwartz, Nikhila Albert, Michael Du and Dennis P. Wall

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

DYRK1A is a gene recurrently disrupted in 0.1–0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including m...

Authors: Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler and Raphael A. Bernier

Development and evaluation of a speech-generating AAC mobile app for minimally verbal children with autism spectrum disorder in Mainland China

Mobile touchscreen devices are currently being used as speech-generating devices (SGDs) and have been shown to promote the communication skills, particularly the requesting skills of children with autism spect...

Authors: Sainan An, Xiaoping Feng, Yue Dai, Hongli Bo, Xiuqing Wang, Mu Li, John Zhuohao Woo, Xingmei Liang, Cheng Guo, Charles Xingchao Liu and Liping Wei

A novel system for tracking social preference dynamics in mice reveals sex- and strain-specific characteristics

Deciphering the biological mechanisms underlying social behavior in animal models requires standard behavioral paradigms that can be unbiasedly employed in an observer- and laboratory-independent manner. Durin...

Authors: Shai Netser, Shani Haskal, Hen Magalnik and Shlomo Wagner

The association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders in children: a meta-analysis

Previous reviews have been conducted to evaluate the association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders (ASD) in children, with no definitive conc...

Authors: Meiyun Wang, Kaiqin Li, Dongmei Zhao and Ling Li

Linguistic camouflage in girls with autism spectrum disorder

Autism spectrum disorder (ASD) is diagnosed more frequently in boys than girls, even when girls are equally symptomatic. Cutting-edge behavioral imaging has detected “camouflaging” in girls with ASD, wherein s...

Authors: Julia Parish-Morris, Mark Y. Liberman, Christopher Cieri, John D. Herrington, Benjamin E. Yerys, Leila Bateman, Joseph Donaher, Emily Ferguson, Juhi Pandey and Robert T. Schultz

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disabilit...

Authors: Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong-Soo Lee, Hyung-Goo Kim…

Neurocognitive and observational markers: prediction of autism spectrum disorder from infancy to mid-childhood

Prospective studies of infants at high familial risk for autism spectrum disorder (ASD) have identified a number of putative early markers that are associated with ASD outcome at 3 years of age. However, some ...

Authors: Rachael Bedford, Teodora Gliga, Elizabeth Shephard, Mayada Elsabbagh, Andrew Pickles, Tony Charman and Mark H. Johnson

Testing the excitation/inhibition imbalance hypothesis in a mouse model of the autism spectrum disorder: in vivo neurospectroscopy and molecular evidence for regional phenotypes

Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment o...

Authors: Joana Gonçalves, Inês R. Violante, José Sereno, Ricardo A. Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J. Silva and Miguel Castelo-Branco

Prenatal levonorgestrel exposure induces autism-like behavior in offspring through ERβ suppression in the amygdala

Autism spectrum disorder (ASD) is characterized by impairments in social communication and restricted or repetitive behaviors or interests. ASD is now diagnosed in more than one out of 100 children and is bias...

Authors: Yuanlin Zou, Qiaomei Lu, Dan Zheng, Zhigang Chu, Zhaoyu Liu, Haijia Chen, Qiongfang Ruan, Xiaohu Ge, Ziyun Zhang, Xiaoyan Wang, Wenting Lou, Yongjian Huang, Yifei Wang, Xiaodong Huang, Zhengxiang Liu, Weiguo Xie…

Attitudes toward risk and ambiguity in patients with autism spectrum disorder

Although the ability to make optimal decisions under uncertainty is an integral part of everyday life, individuals with autism spectrum disorder (ASD) frequently report that they experience difficulties with t...

Authors: Junya Fujino, Shisei Tei, Ryu-ichiro Hashimoto, Takashi Itahashi, Haruhisa Ohta, Chieko Kanai, Rieko Okada, Manabu Kubota, Motoaki Nakamura, Nobumasa Kato and Hidehiko Takahashi

Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population

Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identif...

Authors: So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park and Hee Jeong Yoo

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation

Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum ...

Authors: Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu

A brain proteomic investigation of rapamycin effects in the Tsc1 ^+/− mouse model

Tuberous sclerosis complex (TSC) is a rare monogenic disorder characterized by benign tumors in multiple organs as well as a high prevalence of epilepsy, intellectual disability and autism. TSC is caused by in...

Authors: Hendrik Wesseling, Ype Elgersma and Sabine Bahn

Developmental disruption of amygdala transcriptome and socioemotional behavior in rats exposed to valproic acid prenatally

The amygdala controls socioemotional behavior and has consistently been implicated in the etiology of autism spectrum disorder (ASD). Precocious amygdala development is commonly reported in ASD youth with the ...

Authors: Catherine E. Barrett, Thomas M. Hennessey, Katelyn M. Gordon, Steve J. Ryan, Morgan L. McNair, Kerry J. Ressler and Donald G. Rainnie

Balanced bifrontal transcranial direct current stimulation enhances working memory in adults with high-functioning autism: a sham-controlled crossover study

Working memory (WM) often is impaired in autism spectrum disorder (ASD). Such impairment may underlie core deficits in cognition and social functioning. Transcranial direct current stimulation (tDCS) has been ...

Authors: J. Jason van Steenburgh, Mark Varvaris, David J. Schretlen, Tracy D. Vannorsdall and Barry Gordon

Globally weaker and topologically different: resting-state connectivity in youth with autism

There is a lack of agreement about functional connectivity differences in individuals with autism spectrum disorder (ASD). Studies using absolute strength have found reduced connectivity, while those using rel...

Authors: Benjamin E. Yerys, John D. Herrington, Theodore D. Satterthwaite, Lisa Guy, Robert T. Schultz and Danielle S. Bassett

Erratum to: Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome

Authors: Lauren E. Ethridge, Stormi P. White, Matthew W. Mosconi, Jun Wang, Ernest V. Pedapati, Craig A. Erickson, Matthew J. Byerly and John A. Sweeney

ADHD-related symptoms and attention profiles in the unaffected siblings of probands with autism spectrum disorder: focus on the subtypes of autism and Asperger’s disorder

The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about a...

Authors: Yi-Ling Chien, Miao-Chun Chou, Yen-Nan Chiu, Wen-Jiun Chou, Yu-Yu Wu, Wen-Che Tsai and Susan Shur-Fen Gau

Typical versus delayed speech onset influences verbal reporting of autistic interests

The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associ...

Authors: Liliane Chiodo, Steve Majerus and Laurent Mottron

Interrelationship between insistence on sameness, effortful control and anxiety in adolescents and young adults with autism spectrum disorder (ASD)

Both self-regulation and insistence on sameness (IS) are related to anxiety, which is a common feature of individuals with autism spectrum disorder (ASD). Here, we aimed to characterise the IS-self-regulation-...

Authors: Mirko Uljarević, Amanda L. Richdale, David W. Evans, Ru Ying Cai and Susan R. Leekam

Bio-collections in autism research

Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding ...

Authors: Jamie Reilly, Louise Gallagher, June L. Chen, Geraldine Leader and Sanbing Shen

Prenatal exposure to valproic acid increases miR-132 levels in the mouse embryonic brain

MicroRNAs, small non-coding RNAs, are highly expressed in the mammalian brain, and the dysregulation of microRNA levels may be involved in neurodevelopmental disorders such as autism spectrum disorder (ASD). I...

Authors: Yuta Hara, Yukio Ago, Erika Takano, Shigeru Hasebe, Takanobu Nakazawa, Hitoshi Hashimoto, Toshio Matsuda and Kazuhiro Takuma

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly d...

Authors: Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee…

Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes

Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. The majority of RTT cases are caused by de novo mutations in methyl-CpG-binding protein 2 (MECP2), and several mouse model...

Authors: Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes, Julie Ruston, Monica Justice, Brian J. Nieman and Jason P. Lerch