Articles

Initial action output and feedback-guided motor behaviors in autism spectrum disorder

Sensorimotor issues are common in autism spectrum disorder (ASD), related to core symptoms, and predictive of worse functional outcomes. Deficits in rapid behaviors supported primarily by feedforward mechanism...

Authors: Kathryn E. Unruh, Walker S. McKinney, Erin K. Bojanek, Kandace K. Fleming, John A. Sweeney and Matthew W. Mosconi

Maternal steroid levels and the autistic traits of the mother and infant

Prenatal sex steroids have been associated with autism in several clinical and epidemiological studies. It is unclear how this relates to the autistic traits of the mother and how early this can be detected du...

Authors: A. Tsompanidis, E. Aydin, E. Padaigaitė, G. Richards, C. Allison, G. Hackett, T. Austin, R. Holt and S. Baron-Cohen

Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys

Rhesus monkeys (Macaca mulatta) exhibit pronounced individual differences in social traits as measured by the macaque Social Responsiveness Scale-Revised. The macaque Social Responsiveness Scale was previously ad...

Authors: Ozge Oztan, Catherine F. Talbot, Emanuela Argilli, Alyssa C. Maness, Sierra M. Simmons, Noreen Mohsin, Laura A. Del Rosso, Joseph P. Garner, Elliott H. Sherr, John P. Capitanio and Karen J. Parker

Modulation of striatal functional connectivity differences in adults with and without autism spectrum disorder in a single-dose randomized trial of cannabidivarin

Autism spectrum disorder (ASD) has a high cost to affected individuals and society, but treatments for core symptoms are lacking. To expand intervention options, it is crucial to gain a better understanding of...

Authors: Charlotte M. Pretzsch, Dorothea L. Floris, Bogdan Voinescu, Malka Elsahib, Maria A. Mendez, Robert Wichers, Laura Ajram, Glynis Ivin, Martin Heasman, Elise Pretzsch, Steven Williams, Declan G. M. Murphy, Eileen Daly and Gráinne M. McAlonan

Neurite orientation dispersion and density imaging reveals white matter microstructural alterations in adults with autism

Evidences suggesting the association between behavioral anomalies in autism and white matter (WM) microstructural alterations are increasing. Diffusion tensor imaging (DTI) is widely used to infer tissue micro...

Authors: Christina Andica, Koji Kamagata, Eiji Kirino, Wataru Uchida, Ryusuke Irie, Syo Murata and Shigeki Aoki

Autism symptoms in anorexia nervosa: a comparative study with females with autism spectrum disorder

Recent research suggests a link between autism spectrum disorder (ASD) and anorexia nervosa (AN). Individuals with AN show high scores on measures of ASD symptoms, relative to individuals without AN, however, ...

Authors: Jess Kerr-Gaffney, Hannah Hayward, Emily J. H. Jones, Daniel Halls, Declan Murphy and Kate Tchanturia

Development and validation of the suicidal behaviours questionnaire - autism spectrum conditions in a community sample of autistic, possibly autistic and non-autistic adults

Autistic people and those with high autistic traits are at high risk of experiencing suicidality. Yet, there are no suicidality assessment tools developed or validated for these groups.

Authors: Sarah A. Cassidy, Louise Bradley, Heather Cogger-Ward and Jacqui Rodgers

Correction to: Hans Asperger, National Socialism, and “race hygiene” in Nazi-era Vienna

An amendment to this paper has been published and can be accessed via the original article.

Authors: Herwig Czech

Correction to: Randomized controlled trial of sulforaphane and metabolite discovery in children with Autism Spectrum Disorder

Authors: Andrew W. Zimmerman, Kanwaljit Singh, Susan L. Connors, Hua Liu, Anita A. Panjwani, Li‑Ching Lee, Eileen Diggins, Ann Foley, Stepan Melnyk, Indrapal N. Singh, S. Jill James, Richard E. Frye and Jed W. Fahey

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts

Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) display a strong male bias. Androgen exposure is profoundly increased in typical male development, but it also varies within the sexes...

Authors: Brooke G. McKenna, Yongchao Huang, Kévin Vervier, Dabney Hofammann, Mary Cafferata, Seima Al-Momani, Florencia Lowenthal, Angela Zhang, Jin-Young Koh, Savantha Thenuwara, Leo Brueggeman, Ethan Bahl, Tanner Koomar, Natalie Pottschmidt, Taylor Kalmus, Lucas Casten…

Psychometric validation and refinement of the Interoception Sensory Questionnaire (ISQ) in adolescents and adults on the autism spectrum

Individuals on the autism spectrum are reported to display alterations in interoception, the sense of the internal state of the body. The Interoception Sensory Questionnaire (ISQ) is a 20-item self-report meas...

Authors: Evan Suzman, Zachary J. Williams, Jacob I. Feldman, Michelle Failla, Carissa J. Cascio, Mark T. Wallace, Maria Niarchou, James S. Sutcliffe, Ericka Wodka and Tiffany G. Woynaroski

Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity

Autism spectrum disorder (ASD) has a strong genetic etiology. Germline mutation in the tumor suppressor gene PTEN is one of the best described monogenic risk cases for ASD. Animal modeling of cell-specific Pten l...

Authors: Nick Sarn, Stetson Thacker, Hyunpil Lee and Charis Eng

Retraction Note to: Improving the measurement of alexithymia in autistic adults: a psychometric investigation and refinement of the twenty-item Toronto Alexithymia Scale

This article has been retracted. Please see the Retraction Notice for more detail: https://doi.org/10.1186/s13229-021-00446-6

Authors: Zachary J. Williams and Katherine O. Gotham

Using the big data approach to clarify the structure of restricted and repetitive behaviors across the most commonly used autism spectrum disorder measures

Restricted and repetitive behaviors (RRB) in autism spectrum disorder (ASD) encompass several distinct domains. However, commonly used general ASD measures provide broad RRB scores rather than assessing separa...

Authors: Mirko Uljarević, Booil Jo, Thomas W. Frazier, Lawrence Scahill, Eric A. Youngstrom and Antonio Y. Hardan

Randomized controlled trial of sulforaphane and metabolite discovery in children with Autism Spectrum Disorder

Sulforaphane (SF), an isothiocyanate in broccoli, has potential benefits relevant to autism spectrum disorder (ASD) through its effects on several metabolic and immunologic pathways. Previous clinical trials o...

Authors: Andrew W. Zimmerman, Kanwaljit Singh, Susan L. Connors, Hua Liu, Anita A. Panjwani, Li-Ching Lee, Eileen Diggins, Ann Foley, Stepan Melnyk, Indrapal N. Singh, S. Jill James, Richard E. Frye and Jed W. Fahey

The Comprehensive Autistic Trait Inventory (CATI): development and validation of a new measure of autistic traits in the general population

Traits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use ...

Authors: Michael C. W. English, Gilles E. Gignac, Troy A. W. Visser, Andrew J. O. Whitehouse, James T. Enns and Murray T. Maybery

Prospective and detailed behavioral phenotyping in DDX3X syndrome

DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and lang...

Authors: Lara Tang, Tess Levy, Sylvia Guillory, Danielle Halpern, Jessica Zweifach, Ivy Giserman-Kiss, Jennifer H. Foss-Feig, Yitzchak Frank, Reymundo Lozano, Puneet Belani, Christina Layton, Bonnie Lerman, Emanuel Frowner, Michael S. Breen, Silvia De Rubeis, Ana Kostic…

Bayonet-shaped language development in autism with regression: a retrospective study

Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regre...

Authors: David Gagnon, Abderrahim Zeribi, Élise Douard, Valérie Courchesne, Borja Rodríguez-Herreros, Guillaume Huguet, Sébastien Jacquemont, Mor Absa Loum and Laurent Mottron

Single-participant structural similarity matrices lead to greater accuracy in classification of participants than function in autism in MRI

Autism has previously been characterized by both structural and functional differences in brain connectivity. However, while the literature on single-subject derivations of functional connectivity is extensive...

Authors: Matthew J. Leming, Simon Baron-Cohen and John Suckling

Correction to: Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life

An amendment to this paper has been published and can be accessed via the original article.

Authors: Jessica A. Jiménez, Travis S. Ptacek, Alex H. Tuttle, Ralf S. Schmid, Sheryl S. Moy, Jeremy M. Simon and Mark J. Zylka

Examining a stepped-care telehealth program for parents of young children with autism: a proof-of-concept trial

Intervention during the first years of life for children with autism spectrum disorder (ASD) may have the strongest impact on long-term brain development and functioning. Yet, barriers such as a shortage of tr...

Authors: Allison L. Wainer, Zachary E. Arnold, Caroline Leonczyk and Latha Valluripalli Soorya

An investigation of the diet, exercise, sleep, BMI, and health outcomes of autistic adults

Studies of autistic children suggest that restricted eating, reduced physical activity, and sleep disorders are common; however, no studies attempt to broadly describe the diet, exercise, and sleep patterns of...

Authors: Elizabeth Weir, Carrie Allison, Ken K. Ong and Simon Baron-Cohen

Extremely preterm birth and autistic traits in young adulthood: the EPICure study

A high prevalence of autism spectrum disorder is reported in children born extremely preterm (EP), but an even larger proportion of survivors are affected by subclinical difficulties than meet diagnostic crite...

Authors: Helen O’Reilly, Yanyan Ni, Samantha Johnson, Dieter Wolke and Neil Marlow

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neur...

Authors: Michael. G. Mariscal, Elizabeth Berry-Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip-Dhima, Jennifer H. Foss-Feig, Alexander Kolevzon, Meera. E. Modi, Matthew W. Mosconi, Charles A. Nelson, Craig M. Powell, Paige M. Siper, Latha Soorya, Andrew Thaliath, Audrey Thurm, Bo Zhang…

New guidance to seekers of autism biomarkers: an update from studies of identical twins

The autism spectrum disorders (ASD) are common neuropsychiatric conditions of childhood for which the vast proportion of population risk is attributable to inheritance, and for which there exist few if any rep...

Authors: John N. Constantino

Imitation and recognition of facial emotions in autism: a computer vision approach

Imitation of facial expressions plays an important role in social functioning. However, little is known about the quality of facial imitation in individuals with autism and its relationship with defining diffi...

Authors: Hanna Drimalla, Irina Baskow, Behnoush Behnia, Stefan Roepke and Isabel Dziobek

Tactile cortical responses and association with tactile reactivity in young children on the autism spectrum

Unusual behavioral reactions to sensory stimuli are frequently reported in individuals on the autism spectrum (AS). Despite the early emergence of sensory features (< age 3) and their potential impact on devel...

Authors: Svenja Espenhahn, Kate J. Godfrey, Sakshi Kaur, Maia Ross, Niloy Nath, Olesya Dmitrieva, Carly McMorris, Filomeno Cortese, Charlene Wright, Kara Murias, Deborah Dewey, Andrea B. Protzner, Adam McCrimmon, Signe Bray and Ashley D. Harris

Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development

One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive domain 1B (ARID1B), a chromatin modifier, has been ...

Authors: J. Ellegood, S. P. Petkova, A. Kinman, L. R. Qiu, A. Adhikari, A. A. Wade, D. Fernandes, Z. Lindenmaier, A. Creighton, L. M. J. Nutter, A. S. Nord, J. L. Silverman and J. P. Lerch

A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California

The Early Markers for Autism (EMA) study is a population-based case–control study designed to learn more about early biologic processes involved in ASD.

Authors: Kristen Lyall, Jennifer L. Ames, Michelle Pearl, Michela Traglia, Lauren A. Weiss, Gayle C. Windham, Martin Kharrazi, Cathleen K. Yoshida, Robert Yolken, Heather E. Volk, Paul Ashwood, Judy Van de Water and Lisa A. Croen

Hippocampal neurons isolated from rats subjected to the valproic acid model mimic in vivo synaptic pattern: evidence of neuronal priming during early development in autism spectrum disorders

Autism spectrum disorders (ASD) are synaptopathies characterized by area-specific synaptic alterations and neuroinflammation. Structural and adhesive features of hippocampal synapses have been described in the...

Authors: Marianela Evelyn Traetta, Martín Gabriel Codagnone, Nonthué Alejandra Uccelli, Alberto Javier Ramos, Sandra Zárate and Analía Reinés

Evaluating the latent structure of the non-social domain of autism in autistic adults

The social domain of autism has been studied in depth, but the relationship between the non-social traits of autism has received less attention. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5...

Authors: Rachel Grove, Sander Begeer, Anke M. Scheeren, Ricarda F. Weiland and Rosa A. Hoekstra

The psychological impact of the COVID-19 pandemic on adults with autism: a survey study across three countries

Previous studies have reported a negative psychological and mental health impact of the COVID-19 pandemic. This impact is likely to be stronger for people with autism as they are at heightened risk of mental h...

Authors: Danna Oomen, Annabel D. Nijhof and Jan R. Wiersema

RETRACTED ARTICLE: Improving the measurement of alexithymia in autistic adults: a psychometric investigation and refinement of the twenty-item Toronto Alexithymia Scale

Alexithymia, a personality trait characterized by difficulties interpreting one’s own emotional states, is commonly elevated in autistic adults, and a growing body of literature suggests that this trait underl...

Authors: Zachary J. Williams and Katherine O. Gotham

Towards robust and replicable sex differences in the intrinsic brain function of autism

Marked sex differences in autism prevalence accentuate the need to understand the role of biological sex-related factors in autism. Efforts to unravel sex differences in the brain organization of autism have, ...

Authors: Dorothea L. Floris, José O. A. Filho, Meng-Chuan Lai, Steve Giavasis, Marianne Oldehinkel, Maarten Mennes, Tony Charman, Julian Tillmann, Guillaume Dumas, Christine Ecker, Flavio Dell’Acqua, Tobias Banaschewski, Carolin Moessnang, Simon Baron-Cohen, Sarah Durston, Eva Loth…

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile

Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile...

Authors: Georgie Agar, Chloe Brown, Daniel Sutherland, Sean Coulborn, Chris Oliver and Caroline Richards

Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability

The lack of robust and reliable clinical biomarkers in Fragile X Syndrome (FXS), the most common inherited form of intellectual disability, has limited the successful translation of bench-to-bedside therapeuti...

Authors: Carol L. Wilkinson and Charles A. Nelson

Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development

CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the emb...

Authors: Shaun Hurley, Conor Mohan, Philipp Suetterlin, Robert Ellingford, Kimberley L. H. Riegman, Jacob Ellegood, Angela Caruso, Caterina Michetti, Olivier Brock, Romy Evans, Fabrizio Rudari, Alessio Delogu, Maria Luisa Scattoni, Jason P. Lerch, Cathy Fernandes and M. Albert Basson

Oxytocin-induced increase in N,N-dimethylglycine and time course of changes in oxytocin efficacy for autism social core symptoms

Oxytocin is expected as a novel therapeutic agent for autism spectrum disorder (ASD) core symptoms. However, previous results on the efficacy of repeated administrations of oxytocin are controversial. Recently...

Authors: Yasuhiko Kato, Hitoshi Kuwabara, Takashi Okada, Toshio Munesue, Seico Benner, Miho Kuroda, Masaki Kojima, Walid Yassin, Yosuke Eriguchi, Yosuke Kameno, Chihiro Murayama, Tomoko Nishimura, Kenji Tsuchiya, Kiyoto Kasai, Norio Ozaki, Hirotaka Kosaka…

Modulation of atypical brain activation during executive functioning in autism: a pharmacological MRI study of tianeptine

Autism spectrum disorder (ASD) is associated with deficits in executive functioning (EF), and these have been suggested to contribute to core as well as co-occurring psychiatric symptoms. The biological basis ...

Authors: Robert H. Wichers, James L. Findon, Auke Jelsma, Vincent Giampietro, Vladimira Stoencheva, Dene M. Robertson, Clodagh M. Murphy, Sarah Blainey, Grainne McAlonan, Christine Ecker, Katya Rubia, Declan G. M. Murphy and Eileen M. Daly

Is social camouflaging associated with anxiety and depression in autistic adults?

There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health.

Authors: Laura Hull, Lily Levy, Meng-Chuan Lai, K. V. Petrides, Simon Baron-Cohen, Carrie Allison, Paula Smith and Will Mandy

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre ...

Authors: Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski, Jian Zeng, Yuanhao Yang, Dominique Cleary, Rachel Grove, Claire Hafekost, Alexis Harun…

Modified CBT for social anxiety and social functioning in young adults with autism spectrum disorder

There is a strong research imperative to investigate effective treatment options for adolescents and adults with autism spectrum disorder (ASD). Elevated social anxiety, difficulties with social functioning an...

Authors: Emily R. Bemmer, Kelsie A. Boulton, Emma E. Thomas, Ben Larke, Suncica Lah, Ian B. Hickie and Adam J. Guastella

Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets

Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interactions as well as the presentation of restrictive and repetitive behaviors. ASD is highly...

Authors: Greta Pintacuda, Jacqueline M. Martín and Kevin C. Eggan

Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome

Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cau...

Authors: N. A. Copping and J. L. Silverman

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these diso...

Authors: Joana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, Vincent Junod, Aline Habegger, Aurélie Pain, Sonia Richetin, Paola Yu, Bertrand Isidor, Lionel Van Maldergem, Linda Pons, Sabine Manificat, Nadia Chabane, Marine Jequier Gygax and Anne Manuela Maillard

Correction to: Absence of parvalbumin increases mitochondria volume and branching of dendrites in inhibitory Pvalb neurons in vivo: a point of convergence of autism spectrum disorder (ASD) risk gene phenotypes

An amendment to this paper has been published and can be accessed via the original article.

Authors: Lucia Janickova, Karin Farah Rechberger, Lucas Wey and Beat Schwaller

Cannabinoid treatment for autism: a proof-of-concept randomized trial

Endocannabinoid dysfunction in animal models of autism spectrum disorder (ASD) and accumulating, albeit anecdotal, evidence for efficacy in humans motivated this placebo-controlled double-blind comparison of t...

Authors: Adi Aran, Moria Harel, Hanoch Cassuto, Lola Polyansky, Aviad Schnapp, Nadia Wattad, Dorit Shmueli, Daphna Golan and F. Xavier Castellanos

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers wi...

Authors: Thomas W. Frazier, Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin and Charis Eng

Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids

The inability to observe relevant biological processes in vivo significantly restricts human neurodevelopmental research. Advances in appropriate in vitro model systems, including patient-specific human brain ...

Authors: Dwaipayan Adhya, George Chennell, James A. Crowe, Eva P. Valencia-Alarcón, James Seyforth, Neveen A. Hosny, Marina V. Yasvoina, Robert Forster, Simon Baron-Cohen, Anthony C. Vernon and Deepak P. Srivastava

Autistic traits and individual brain differences: functional network efficiency reflects attentional and social impairments, structural nodal efficiencies index systemising and theory-of-mind skills

Autism is characterised not only by impaired social cognitive ‘empathising’ but also by superior rule-based ‘systemising’. These cognitive domains intertwine within the categorical diagnosis of autism, yet beh...

Authors: Subhadip Paul, Aditi Arora, Rashi Midha, Dinh Vu, Prasun K. Roy and Matthew K. Belmonte