Articles

IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism

Research evidence accumulated in the past years in both rodent and human models for autism spectrum disorders (ASD) have established insulin-like growth factor 1 (IGF-1) as one of the most promising ASD therap...

Authors: Sara B. Linker, Ana P. D. Mendes and Maria C. Marchetto

Advanced paternal age as a risk factor for neurodevelopmental disorders: a translational study

Advanced paternal age (APA) is a risk factor for several neurodevelopmental disorders, including autism and schizophrenia. The potential mechanisms conferring this risk are poorly understood. Here, we show tha...

Authors: Axel Krug, Markus Wöhr, Dominik Seffer, Henrike Rippberger, A. Özge Sungur, Bruno Dietsche, Frederike Stein, Sugirthan Sivalingam, Andreas J. Forstner, Stephanie H. Witt, Helene Dukal, Fabian Streit, Anna Maaser, Stefanie Heilmann-Heimbach, Till F. M. Andlauer, Stefan Herms…

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHAN...

Authors: Michael S. Breen, Andrew Browne, Gabriel E. Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D. Buxbaum and Elodie Drapeau

Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns

Fragile X syndrome (FXS), a neurodevelopmental disorder, is a leading monogenetic cause of intellectual disability and autism spectrum disorder. Notwithstanding the extensive studies using rodent and other pre...

Authors: Shreya Das Sharma, Rakhi Pal, Bharath Kumar Reddy, Bhuvaneish T. Selvaraj, Nisha Raj, Krishna Kumar Samaga, Durga J. Srinivasan, Loren Ornelas, Dhruv Sareen, Matthew R. Livesey, Gary J. Bassell, Clive N. Svendsen, Peter C. Kind, Siddharthan Chandran, Sumantra Chattarji and David J. A. Wyllie

Evidence against the “normalization” prediction of the early brain overgrowth hypothesis of autism

The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growt...

Authors: Lisa D. Yankowitz, John D. Herrington, Benjamin E. Yerys, Joseph A. Pereira, Juhi Pandey and Robert T. Schultz

Sex differences in the first impressions made by girls and boys with autism

Individuals with autism spectrum disorder (ASD) are characterized by social communication challenges and repetitive behaviors that may be quickly detected by experts (Autism Res 10:653–62, 2017; American Psych...

Authors: Meredith L. Cola, Samantha Plate, Lisa Yankowitz, Victoria Petrulla, Leila Bateman, Casey J. Zampella, Ashley de Marchena, Juhi Pandey, Robert T. Schultz and Julia Parish-Morris

Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses

Autistic individuals exhibit atypical patterns of sensory processing that are known to be related to quality of life, but which are also highly heterogeneous. Previous investigations of this heterogeneity have...

Authors: Patrick Dwyer, Xiaodong Wang, Rosanna De Meo-Monteil, Fushing Hsieh, Clifford D. Saron and Susan M. Rivera

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

In fast firing, parvalbumin (PV)-expressing (Pvalb) interneurons, PV acts as an intracellular Ca²⁺ signal modulator with slow-onset kinetics. In Purkinje cells of PV^−/− mice, adaptive/homeostatic mechanisms lead ...

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

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion

A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion synd...

Authors: Maria Gudbrandsen, Anke Bletsch, Caroline Mann, Eileen Daly, Clodagh M. Murphy, Vladimira Stoencheva, Charlotte E. Blackmore, Maria Rogdaki, Leila Kushan, Carrie E. Bearden, Declan G. M. Murphy, Michael C. Craig and Christine Ecker

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome seq...

Authors: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski and James F. Gusella

Electronic communication in autism spectrum conditions

Authors: Lucy Anne Livingston, Chris Ashwin and Punit Shah

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation

PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we conti...

Authors: Shin Chung Kang, Ritika Jaini, Masahiro Hitomi, Hyunpil Lee, Nick Sarn, Stetson Thacker and Charis Eng

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype...

Authors: Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M. Heine, Samuel J. R. A. Chawner, Antonio Rodriguez-Moreno, Marianne B. M. van den Bree, Giuseppe Testa, Spyros Petrakis and Adrian J. Harwood

Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number o...

Authors: Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jing Eugene Kwa, Ulla-Kaisa Peteri, Maija L. Castrén and Mahmoud A. Pouladi

Dysregulation of protein synthesis and dendritic spine morphogenesis in ASD: studies in human pluripotent stem cells

Autism spectrum disorder (ASD) is a brain disorder that involves changes in neuronal connections. Abnormal morphology of dendritic spines on postsynaptic neurons has been observed in ASD patients and transgeni...

Authors: Louisa Hoi-Ying Lo and Kwok-On Lai

Identification of amygdala-expressed genes associated with autism spectrum disorder

Studies of individuals with autism spectrum disorder (ASD) have revealed a strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD is characterized by social deficits and a...

Authors: Maria Jesus Herrero, Dmitry Velmeshev, David Hernandez-Pineda, Saarthak Sethi, Shawn Sorrells, Payal Banerjee, Catherine Sullivan, Abha R. Gupta, Arnold R. Kriegstein and Joshua G. Corbin

Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors

Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding met...

Authors: Suzy Varderidou-Minasian, Lisa Hinz, Dominique Hagemans, Danielle Posthuma, Maarten Altelaar and Vivi M. Heine

Cell therapy approaches to autism: a review of clinical trial data

A number of clinical trials of cell therapies for autism spectrum disorder have been conducted, and some have published their outcomes. This review considers the data that have emerged from this small set of p...

Authors: Jack Price

Age-related differences in white matter diffusion measures in autism spectrum condition

Autism spectrum condition (ASC) is accompanied by developmental differences in brain anatomy and connectivity. White matter differences in ASC have been widely studied with diffusion imaging but results are he...

Authors: Abigail Thompson, Asal Shahidiani, Anne Fritz, Jonathan O’Muircheartaigh, Lindsay Walker, Vera D’Almeida, Clodagh Murphy, Eileen Daly, Declan Murphy, Steve Williams, Sean Deoni and Christine Ecker

Prevalence and cumulative incidence of autism spectrum disorders and the patterns of co-occurring neurodevelopmental disorders in a total population sample of 5-year-old children

Whether there is a true increase in autism spectrum disorder (ASD) frequency or not remains unclear. Additionally, the rates of co-existing neurodevelopmental disorders (NDD) in a total population sample has n...

Authors: Manabu Saito, Tomoya Hirota, Yui Sakamoto, Masaki Adachi, Michio Takahashi, Ayako Osato-Kaneda, Young Shin Kim, Bennett Leventhal, Amy Shui, Sumi Kato and Kazuhiko Nakamura

Effectiveness of a modified group cognitive behavioral therapy program for anxiety in children with ASD delivered in a community context

Youth with autism spectrum disorder (ASD) experience high rates (approximately 50–79%) of comorbid anxiety problems. Given the significant interference and distress that excessive anxiety can cause, evidence-b...

Authors: Abbie Solish, Nora Klemencic, Anne Ritzema, Vicki Nolan, Martha Pilkington, Evdokia Anagnostou and Jessica Brian

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells

Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of t...

Authors: P. Joel Ross, Rebecca S. F. Mok, Brandon S. Smith, Deivid C. Rodrigues, Marat Mufteev, Stephen W. Scherer and James Ellis

Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex ge...

Authors: Lorenza Culotta and Peter Penzes

Automated recognition of spontaneous facial expression in individuals with autism spectrum disorder: parsing response variability

Reduction or differences in facial expression are a core diagnostic feature of autism spectrum disorder (ASD), yet evidence regarding the extent of this discrepancy is limited and inconsistent. Use of automate...

Authors: Abigail Bangerter, Meenakshi Chatterjee, Joseph Manfredonia, Nikolay V. Manyakov, Seth Ness, Matthew A. Boice, Andrew Skalkin, Matthew S. Goodwin, Geraldine Dawson, Robert Hendren, Bennett Leventhal, Frederick Shic and Gahan Pandina

Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study

Tuberous sclerosis complex (TSC) is an autosomal dominant disease that affects multiple organs including the brain. TSC is strongly associated with broad neurodevelopmental disorders, including autism spectrum...

Authors: Dorinde M. van Andel, Jan J. Sprengers, Bob Oranje, Floortje E. Scheepers, Floor E. Jansen and Hilgo Bruining

Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice

Mutations in TSC1 or TSC2 genes cause tuberous sclerosis complex (TSC), a disorder associated with epilepsy, autism, and intellectual disability. TSC1 and TSC2 are repressors of the mechanistic target of rapamyci...

Authors: Nabila Haji, Ilse Riebe, Argel Aguilar-Valles, Julien Artinian, Isabel Laplante and Jean-Claude Lacaille

Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample

Although there is high co-occurrence between ASD and ADHD, the nature of this co-occurrence remains unclear. Our study aimed to examine the underlying relationship between ASD and ADHD symptoms in a combined s...

Authors: Aneta D. Krakowski, Katherine Tombeau Cost, Evdokia Anagnostou, Meng-Chuan Lai, Jennifer Crosbie, Russell Schachar, Stelios Georgiades, Eric Duku and Peter Szatmari

Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders

Proteomics is the large-scale study of the total protein content and their overall function within a cell through multiple facets of research. Advancements in proteomic methods have moved past the simple quant...

Authors: Nadeem Murtaza, Jarryll Uy and Karun K. Singh

Human in vitro models for understanding mechanisms of autism spectrum disorder

Early brain development is a critical epoch for the development of autism spectrum disorder (ASD). In vivo animal models have, until recently, been the principal tool used to study early brain development and ...

Authors: Aaron Gordon and Daniel H. Geschwind

The relationship of autistic traits to taste and olfactory processing in anorexia nervosa

There is a heightened prevalence of autism in anorexia nervosa (AN) compared to the general population. Autistic people with AN experience a longer illness duration and poorer treatment outcomes. Whether senso...

Authors: Emma Kinnaird, Catherine Stewart and Kate Tchanturia

Developmental changes in attention to social information from childhood to adolescence in autism spectrum disorders: a comparative study

Elucidating developmental changes in the symptoms of autism spectrum disorder (ASD) is important to support individuals with ASD. However, no report has clarified the developmental changes in attention to soci...

Authors: Toru Fujioka, Kenji J. Tsuchiya, Manabu Saito, Yoshiyuki Hirano, Muneaki Matsuo, Mitsuru Kikuchi, Yoshihiro Maegaki, Damee Choi, Sumi Kato, Tokiko Yoshida, Yuko Yoshimura, Sawako Ooba, Yoshifumi Mizuno, Shinichiro Takiguchi, Hideo Matsuzaki, Akemi Tomoda…

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attemp...

Authors: Karina A. Kruth, Tierney M. Grisolano, Christopher A. Ahern and Aislinn J. Williams

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits

Formation and maintenance of appropriate neural networks require tight regulation of neural stem cell proliferation, differentiation, and neurogenesis. microRNAs (miRNAs) play an important role in brain develo...

Authors: Julien Fregeac, Stéphanie Moriceau, Antoine Poli, Lam Son Nguyen, Franck Oury and Laurence Colleaux

Using human pluripotent stem cell models to study autism in the era of big data

Advances in human pluripotent stem cell (hPSC) biology coupled with protocols to generate diverse brain cell types in vitro have provided neuroscientists with opportunities to dissect basic and disease mechani...

Authors: Ralda Nehme and Lindy E. Barrett

Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women

Oxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones. However, to date, the effects of ...

Authors: Tanya L. Procyshyn, Michael V. Lombardo, Meng-Chuan Lai, Bonnie Auyeung, Sarah K. Crockford, J Deakin, S. Soubramanian, A Sule, Simon Baron-Cohen and Richard A. I. Bethlehem

A DLG2 deficiency in mice leads to reduced sociability and increased repetitive behavior accompanied by aberrant synaptic transmission in the dorsal striatum

DLG2, also known as postsynaptic density protein-93 (PSD-93) or chapsyn-110, is an excitatory postsynaptic scaffolding protein that interacts with synaptic surface receptors and signaling molecules. A recent s...

Authors: Taesun Yoo, Sun-Gyun Kim, Soo Hyun Yang, Hyun Kim, Eunjoon Kim and Soo Young Kim

Revised scored Sensory Perception Quotient reveals sensory hypersensitivity in women with autism

Previous research using the Sensory Perception Quotient (SPQ) has reported greater sensory hypersensitivity in people with autism spectrum condition (ASC) compared to controls, consistent with other research. ...

Authors: Emily Taylor, Rosemary Holt, Teresa Tavassoli, Chris Ashwin and Simon Baron-Cohen

Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project

Autism spectrum disorder (ASD) is a neurodevelopmental condition with key deficits in social functioning. It is widely assumed that the biological underpinnings of social impairment are neurofunctional alterat...

Authors: Carolin Moessnang, Sarah Baumeister, Julian Tillmann, David Goyard, Tony Charman, Sara Ambrosino, Simon Baron-Cohen, Christian Beckmann, Sven Bölte, Carsten Bours, Daisy Crawley, Flavio Dell’Acqua, Sarah Durston, Christine Ecker, Vincent Frouin, Hannah Hayward…

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to...

Authors: Wardiya Afshar Saber and Mustafa Sahin

Quantifying compensatory strategies in adults with and without diagnosed autism

There is growing recognition that some autistic people engage in ‘compensation’, showing few behavioural symptoms (e.g. neurotypical social skills), despite continuing to experience autism-related cognitive di...

Authors: Lucy Anne Livingston, Punit Shah, Victoria Milner and Francesca Happé

Links between self-injury and suicidality in autism

Autistic individuals without intellectual disability are at heightened risk of self-injury, and appear to engage in it for similar reasons as non-autistic people. A wide divergence of autistic perspectives on ...

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

Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy

Autism spectrum disorder (ASD) is a neuronal developmental disorder with impaired social interaction and communication, often with abnormal intelligence and comorbidity with epilepsy. Disturbances in synaptic ...

Authors: Cuixia Fan, Yue Gao, Guanmei Liang, Lang Huang, Jing Wang, Xiaoxue Yang, Yiwu Shi, Ursula C. Dräger, Mei Zhong, Tian-Ming Gao and Xinping Yang

Serotonergic innervation of the amygdala is increased in autism spectrum disorder and decreased in Williams syndrome

Williams syndrome (WS) and autism spectrum disorder (ASD) are neurodevelopmental disorders that demonstrate overlapping genetic associations, dichotomous sociobehavioral phenotypes, and dichotomous pathologica...

Authors: C. H. Lew, K. M. Groeniger, K. L. Hanson, D. Cuevas, D. M. Z. Greiner, B. Hrvoj-Mihic, U. Bellugi, C. M. Schumann and K. Semendeferi

Reduced nonverbal interpersonal synchrony in autism spectrum disorder independent of partner diagnosis: a motion energy study

One of the main diagnostic features of individuals with autism spectrum disorders is nonverbal behaviour difficulties during naturalistic social interactions. The ‘Interactional Heterogeneity Hypothesis’ of AS...

Authors: A. L. Georgescu, S. Koeroglu, A. F de C Hamilton, K. Vogeley, C. M. Falter-Wagner and W. Tschacher

Profiling parvalbumin interneurons using iPSC: challenges and perspectives for Autism Spectrum Disorder (ASD)

Autism spectrum disorders (ASD) are persistent conditions resulting from disrupted/altered neurodevelopment. ASD multifactorial etiology—and its numerous comorbid conditions—heightens the difficulty in identif...

Authors: Federica Filice, Beat Schwaller, Tanja M. Michel and Edna Grünblatt

Age-variant and age-invariant features of functional brain organization in middle-aged and older autistic adults

The majority of research effort into autism has been dedicated to understanding mechanisms during early development. As a consequence, research on the broader life course of an autism spectrum condition (ASC) ...

Authors: Joe Bathelt, P. Cédric Koolschijn and Hilde M. Geurts

Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study

Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to ...

Authors: Catherine Laverty, Chris Oliver, Jo Moss, Lisa Nelson and Caroline Richards

Maternal blood folate status during early pregnancy and occurrence of autism spectrum disorder in offspring: a study of 62 serum biomarkers

Autism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development. Since identifying maternal biomarkers associated with ASD risk in offspring durin...

Authors: Olga Egorova, Robin Myte, Jörn Schneede, Bruno Hägglöf, Sven Bölte, Erik Domellöf, Barbro Ivars A’roch, Fredrik Elgh, Per Magne Ueland and Sven-Arne Silfverdal

Behavioral effects of multiple-dose oxytocin treatment in autism: a randomized, placebo-controlled trial with long-term follow-up

Intranasal administration of the “prosocial” neuropeptide oxytocin is increasingly explored as a potential treatment for targeting the core characteristics of autism spectrum disorder (ASD). However, long-term...

Authors: Sylvie Bernaerts, Bart Boets, Guy Bosmans, Jean Steyaert and Kaat Alaerts

Children with autism spectrum disorder produce more ambiguous and less socially meaningful facial expressions: an experimental study using random forest classifiers

Computer vision combined with human annotation could offer a novel method for exploring facial expression (FE) dynamics in children with autism spectrum disorder (ASD).

Authors: Charline Grossard, Arnaud Dapogny, David Cohen, Sacha Bernheim, Estelle Juillet, Fanny Hamel, Stéphanie Hun, Jérémy Bourgeois, Hugues Pellerin, Sylvie Serret, Kevin Bailly and Laurence Chaby