-
Additive interaction between birth asphyxia and febrile seizures on autism spectrum disorder: a population-based study Mol. Autism (IF 6.2) Pub Date : 2024-04-10 Yi Mao, Xindi Lin, Yuhan Wu, Jiayi Lu, Jiayao Shen, Shaogen Zhong, Xingming Jin, Jun Ma
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder that can significantly impact an individual’s ability to socially integrate and adapt. It’s crucial to identify key factors associated with ASD. Recent studies link both birth asphyxia (BA) and febrile seizures (FS) separately to higher ASD prevalence. However, investigations into the interplay of BA and FS and its relationship
-
Systematic review and meta-analysis: multimodal functional and anatomical neural alterations in autism spectrum disorder Mol. Autism (IF 6.2) Pub Date : 2024-04-04 Zixuan Guo, Xinyue Tang, Shu Xiao, Hong Yan, Shilin Sun, Zibin Yang, Li Huang, Zhuoming Chen, Ying Wang
This meta-analysis aimed to explore the most robust findings across numerous existing resting-state functional imaging and voxel-based morphometry (VBM) studies on the functional and structural brain alterations in individuals with autism spectrum disorder (ASD). A whole-brain voxel-wise meta-analysis was conducted to compare the differences in the intrinsic functional activity and gray matter volume
-
Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder Mol. Autism (IF 6.2) Pub Date : 2024-04-03 Eya-Mist Rødgaard, Borja Rodríguez-Herreros, Abderrahim Zeribi, Kristian Jensen, Valérie Courchesne, Elise Douard, David Gagnon, Guillaume Huguet, Sebastien Jacquemont, Laurent Mottron
Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians’ understanding of autism can be gained by
-
Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons Mol. Autism (IF 6.2) Pub Date : 2024-04-03 Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao He
SH3 and multiple ankyrin repeat domains protein 3 (SHANK3) monogenic mutations or deficiency leads to excessive stereotypic behavior and impaired sociability, which frequently occur in autism cases. To date, the underlying mechanisms by which Shank3 mutation or deletion causes autism and the part of the brain in which Shank3 mutation leads to the autistic phenotypes are understudied. The hypothalamus
-
Neuroligin-2 shapes individual slow waves during slow-wave sleep and the response to sleep deprivation in mice Mol. Autism (IF 6.2) Pub Date : 2024-04-03 Tanya Leduc, Hiba El Alami, Khadija Bougadir, Erika Bélanger-Nelson, Valérie Mongrain
Sleep disturbances are a common comorbidity to most neurodevelopmental disorders and tend to worsen disease symptomatology. It is thus crucial to understand mechanisms underlying sleep disturbances to improve patients’ quality of life. Neuroligin-2 (NLGN2) is a synaptic adhesion protein regulating GABAergic transmission. It has been linked to autism spectrum disorders and schizophrenia in humans, and
-
Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach Mol. Autism (IF 6.2) Pub Date : 2024-04-03 Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring
Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement
-
Fetal brain growth and infant autistic traits Mol. Autism (IF 6.2) Pub Date : 2024-02-28 Ezra Aydin, Alex Tsompanidis, Daren Chaplin, Rebecca Hawkes, Carrie Allison, Gerald Hackett, Topun Austin, Eglė Padaigaitė, Lidia V. Gabis, John Sucking, Rosemary Holt, Simon Baron-Cohen
Structural differences exist in the brains of autistic individuals. To date only a few studies have explored the relationship between fetal brain growth and later infant autistic traits, and some have used fetal head circumference (HC) as a proxy for brain development. These findings have been inconsistent. Here we investigate whether fetal subregional brain measurements correlate with autistic traits
-
Granulocyte macrophage colony-stimulating factor-induced macrophages of individuals with autism spectrum disorder adversely affect neuronal dendrites through the secretion of pro-inflammatory cytokines Mol. Autism (IF 6.2) Pub Date : 2024-02-21 Ryohei Takada, Michihiro Toritsuka, Takahira Yamauchi, Rio Ishida, Yoshinori Kayashima, Yuki Nishi, Mitsuru Ishikawa, Kazuhiko Yamamuro, Minobu Ikehara, Takashi Komori, Yuki Noriyama, Kohei Kamikawa, Yasuhiko Saito, Hideyuki Okano, Manabu Makinodan
A growing body of evidence suggests that immune dysfunction and inflammation in the peripheral tissues as well as the central nervous system are associated with the neurodevelopmental deficits observed in autism spectrum disorder (ASD). Elevated expression of pro-inflammatory cytokines in the plasma, serum, and peripheral blood mononuclear cells of ASD has been reported. These cytokine expression levels
-
Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs Mol. Autism (IF 6.2) Pub Date : 2024-01-31 Feipeng Zhu, Qi Shi, Yong-hui Jiang, Yong Q. Zhang, Hui Zhao
SHANK3 gene is a highly replicated causative gene for autism spectrum disorder and has been well characterized in multiple Shank3 mutant rodent models. When compared to rodents, domestic dogs are excellent animal models in which to study social cognition as they closely interact with humans and exhibit similar social behaviors. Using CRISPR/Cas9 editing, we recently generated a dog model carrying Shank3
-
Naturally occurring low sociality in female rhesus monkeys: A tractable model for autism or not? Mol. Autism (IF 6.2) Pub Date : 2024-01-31 Ozge Oztan, Laura A. Del Rosso, Sierra M. Simmons, Duyen K. K. Nguyen, Catherine F. Talbot, John P. Capitanio, Joseph P. Garner, Karen J. Parker
Autism spectrum disorder (ASD) is characterized by persistent social interaction impairments and is male-biased in prevalence. We have established naturally occurring low sociality in male rhesus monkeys as a model for the social features of ASD. Low-social male monkeys exhibit reduced social interactions and increased autistic-like trait burden, with both measures highly correlated and strongly linked
-
Pharmacological and non-pharmacological interventions for irritability in autism spectrum disorder: a systematic review and meta-analysis with the GRADE assessment Mol. Autism (IF 6.2) Pub Date : 2024-01-23 Hangnyoung Choi, Jae Han Kim, Hee Sang Yang, Jong Yeob Kim, Samuele Cortese, Lee Smith, Ai Koyanagi, Elena Dragioti, Joaquim Radua, Paolo Fusar-Poli, Jae Il Shin, Keun-Ah Cheon, Marco Solmi
Numerous interventions for irritability in autism spectrum disorder (ASD) have been investigated. We aimed to appraise the magnitude of pharmacological and non-pharmacological interventions for irritability in ASD without any restrictions in terms of eligible interventions. We systematically searched PubMed/MEDLINE, Scopus, and Web of Science until April 15, 2023. We included randomized controlled
-
Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder Mol. Autism (IF 6.2) Pub Date : 2024-01-23 Bradley J. Wilkes, Derek B. Archer, Anna L. Farmer, Carly Bass, Hannah Korah, David E. Vaillancourt, Mark H. Lewis
Restricted repetitive behavior (RRB) is one of two behavioral domains required for the diagnosis of autism spectrum disorder (ASD). Neuroimaging is widely used to study brain alterations associated with ASD and the domain of social and communication deficits, but there has been less work regarding brain alterations linked to RRB. We utilized neuroimaging data from the National Institute of Mental Health
-
Clinical impact and in vitro characterization of ADNP variants in pediatric patients Mol. Autism (IF 6.2) Pub Date : 2024-01-22 Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu
Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome. ADNP is a multitasking protein with the function as a transcription factor, playing a critical role in brain development. Furthermore, ADNP variants have been identified as one of the most common single-gene causes
-
The search for gastrointestinal inflammation in autism: a systematic review and meta-analysis of non-invasive gastrointestinal markers Mol. Autism (IF 6.2) Pub Date : 2024-01-17 Nisha E. Mathew, Delyse McCaffrey, Adam K. Walker, Kylie-Ann Mallitt, Anne Masi, Margaret J. Morris, Chee Y. Ooi
Gastrointestinal symptoms and inflammatory gastrointestinal diseases exist at higher rates in the autistic population. It is not clear however whether autism is associated with elevated gastrointestinal inflammation as studies examining non-invasive faecal biomarkers report conflicting findings. To understand the research landscape and identify gaps, we performed a systematic review and meta-analysis
-
Gray matter covariations in autism: out-of-sample replication using the ENIGMA autism cohort Mol. Autism (IF 6.2) Pub Date : 2024-01-17 Ting Mei, Alberto Llera, Natalie J. Forde, Daan van Rooij, Dorothea L. Floris, Christian F. Beckmann, Jan K. Buitelaar
Autism spectrum disorder (henceforth autism) is a complex neurodevelopmental condition associated with differences in gray matter (GM) volume covariations, as reported in our previous study of the Longitudinal European Autism Project (LEAP) data. To make progress on the identification of potential neural markers and to validate the robustness of our previous findings, we aimed to replicate our results
-
Autistic and non-autistic individuals show the same amygdala activity during emotional face processing Mol. Autism (IF 6.2) Pub Date : 2024-01-10 Benedikt P. Langenbach, Dominik Grotegerd, Peter C. R. Mulders, Indira Tendolkar, Jasper van Oort, Fleur Duyser, Philip van Eijndhoven, Janna N. Vrijsen, Udo Dannlowski, Zarah Kampmann, Katja Koelkebeck
Autistic and non-autistic individuals often differ in how they perceive and show emotions, especially in their ability and inclination to infer other people’s feelings from subtle cues like facial expressions. Prominent theories of autism have suggested that these differences stem from alterations in amygdala functioning and that amygdala hypoactivation causes problems with emotion recognition. Thus
-
The association between social camouflage and mental health among autistic people in Japan and the UK: a cross-cultural study Mol. Autism (IF 6.2) Pub Date : 2024-01-04 Fumiyo Oshima, Toru Takahashi, Masaki Tamura, Siqing Guan, Mikuko Seto, Laura Hull, William Mandy, Kenji Tsuchiya, Eiji Shimizu
To examine the relationship between social camouflage and mental health in Japanese autistic adults and make an international comparison with a sample from the UK. This study analysed secondary data of participants with a self-reported diagnosis of autism from Japan (N = 210; 123 men and 87 women) and the UK (N = 305; 181 women, 104, men, and 18 nonbinary). The relationships between the quadratic term
-
The biosocial correlates and predictors of emotion dysregulation in autistic adults compared to borderline personality disorder and nonclinical controls Mol. Autism (IF 6.2) Pub Date : 2023-12-18 Doha Bemmouna, Amine Lagzouli, Luisa Weiner
Emotion dysregulation (ED) is a core symptom of borderline personality disorder (BPD), whose aetiology has been attributed to biosocial factors. In autism spectrum condition (ASC), although ED is prevalent and is associated with decreased well-being (e.g. self-harm, suicidality), it has been understudied, especially in adults. It is therefore crucial to further understand ED in autistic adults to improve
-
Is the association between mothers’ autistic traits and childhood autistic traits moderated by maternal pre-pregnancy body mass index? Mol. Autism (IF 6.2) Pub Date : 2023-12-08 Novika Purnama Sari, Alexandros Tsompanidis, Rama J. Wahab, Romy Gaillard, Ezra Aydin, Rosemary Holt, Carrie Allison, Simon Baron-Cohen, Marinus H. van IJzendoorn, Pauline W. Jansen
Previous studies showed that there is a positive association between mothers’ and children’s autistic traits. We also tested if this association is more pronounced in mothers with a higher pre-pregnancy body mass index (BMI). The study was embedded in two cohorts with information available for 4,659 participants from the Generation R and for 179 participants from the Cambridge Ultrasound Siblings and
-
Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications Mol. Autism (IF 6.2) Pub Date : 2023-11-27 Aline Lefebvre, Nicolas Traut, Amandine Pedoux, Anna Maruani, Anita Beggiato, Monique Elmaleh, David Germanaud, Anouck Amestoy, Myriam Ly-Le Moal, Christopher Chatham, Lorraine Murtagh, Manuel Bouvard, Marianne Alisson, Marion Leboyer, Thomas Bourgeron, Roberto Toro, Guillaume Dumas, Clara Moreau, Richard Delorme
Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into ‘motor-driven’ and ‘cognitively driven’. RRBI symptomatology depends on the individual’s clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore
-
Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study Mol. Autism (IF 6.2) Pub Date : 2023-11-17 Simon Maier, Kathrin Nickel, Thomas Lange, Georg Oeltzschner, Michael Dacko, Dominique Endres, Kimon Runge, Anke Schumann, Katharina Domschke, Michalis Rousos, Ludger Tebartz van Elst
Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD. Lactate, an indicator of energy metabolic anomalies, may serve as a potential biomarker for this subgroup
-
Hyperthermia elevates brain temperature and improves behavioural signs in animal models of autism spectrum disorder Mol. Autism (IF 6.2) Pub Date : 2023-11-15 Ana Belen Lopez-Rodriguez, Carol L. Murray, John Kealy, Clodagh Towns, Andrew Roche, Arshed Nazmi, Michelle Doran, John P. Lowry, Colm Cunningham
Autism spectrum disorders (ASD) are predominantly neurodevelopmental and largely genetically determined. However, there are human data supporting the idea that fever can improve symptoms in some individuals, but those data are limited and there are almost no data to support this from animal models. We aimed to test the hypothesis that elevated body temperature would improve function in two animal models
-
Tau reduction attenuates autism-like features in Fmr1 knockout mice Mol. Autism (IF 6.2) Pub Date : 2023-11-07 Shanshan Zhao, Xiangyu Jiang, Linkun Han, Yiru Jiang, Yong Wang, Jian Meng, Xiang Zhu, Xian Zhang, Hong Luo, Yun-wu Zhang
Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased
-
Developmental prediction modeling based on diffusion tensor imaging uncovering age-dependent heterogeneity in early childhood autistic brain Mol. Autism (IF 6.2) Pub Date : 2023-10-30 Xinyue Huang, Yating Ming, Weixing Zhao, Rui Feng, Yuanyue Zhou, Lijie Wu, Jia Wang, Jinming Xiao, Lei Li, Xiaolong Shan, Jing Cao, Xiaodong Kang, Huafu Chen, Xujun Duan
There has been increasing evidence for atypical white matter (WM) microstructure in autistic people, but findings have been divergent. The development of autistic people in early childhood is clouded by the concurrently rapid brain growth, which might lead to the inconsistent findings of atypical WM microstructure in autism. Here, we aimed to reveal the developmental nature of autistic children and
-
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study Mol. Autism (IF 6.2) Pub Date : 2023-10-26 Daria Kostanian, Anna Rebreikina, Victoria Voinova, Olga Sysoeva
Rett syndrome (RS) is a rare neurodevelopmental disorder characterized by mutations in the MECP2 gene. Patients with RS have severe motor abnormalities and are often unable to walk, use hands and speak. The preservation of perceptual and cognitive functions is hard to assess, while clinicians and care-givers point out that these patients need more time to process information than typically developing
-
Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations Mol. Autism (IF 6.2) Pub Date : 2023-10-25 Inci S. Aksoylu, Pauline Martin, Francis Robert, Krzysztof J. Szkop, Nicholas E. Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L. Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Ramesh
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders (TAND) including autism spectrum disorder (ASD) and intellectual disability. Hamartin (TSC1) and tuberin (TSC2) proteins form a complex inhibiting mechanistic target
-
Age-related changes in neural responses to sensory stimulation in autism: a cross-sectional study Mol. Autism (IF 6.2) Pub Date : 2023-10-11 Melis E. Cakar, Kaitlin K. Cummings, Susan Y. Bookheimer, Mirella Dapretto, Shulamite A. Green
Sensory over-responsivity (SOR) is an impairing sensory processing challenge in autism spectrum disorder (ASD) which shows heterogenous developmental trajectories and appears to improve into adulthood in some but not all autistic individuals. However, the neural mechanisms underlying interindividual differences in these trajectories are currently unknown. Here, we used functional magnetic resonance
-
EEG functional connectivity in infants at elevated familial likelihood for autism spectrum disorder Mol. Autism (IF 6.2) Pub Date : 2023-10-07 Christian O’Reilly, Scott Huberty, Stefon van Noordt, James Desjardins, Nicky Wright, Julie Scorah, Sara Jane Webb, Mayada Elsabbagh
Many studies have reported that autism spectrum disorder (ASD) is associated with atypical structural and functional connectivity. However, we know relatively little about the development of these differences in infancy. We used a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years
-
The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings Mol. Autism (IF 6.2) Pub Date : 2023-10-04 Lisa M. Berg, Caroline Gurr, Johanna Leyhausen, Hanna Seelemeyer, Anke Bletsch, Tim Schaefer, Charlotte M. Pretzsch, Bethany Oakley, Eva Loth, Dorothea L. Floris, Jan K. Buitelaar, Christian F. Beckmann, Tobias Banaschewski, Tony Charman, Emily J. H. Jones, Julian Tillmann, Chris H. Chatham, Thomas Bourgeron, Declan G. Murphy, Christine Ecker
Autism spectrum disorders (ASD) are neurodevelopmental conditions accompanied by differences in brain development. Neuroanatomical differences in autism are variable across individuals and likely underpin distinct clinical phenotypes. To parse heterogeneity, it is essential to establish how the neurobiology of ASD is modulated by differences associated with co-occurring conditions, such as attenti
-
Increased rates of chronic physical health conditions across all organ systems in autistic adolescents and adults Mol. Autism (IF 6.2) Pub Date : 2023-09-20 John H. Ward, Elizabeth Weir, Carrie Allison, Simon Baron-Cohen
The poorer physical health of autistic adults compared to non-autistic adults has been highlighted by several epidemiological studies. However, research has so far been limited to specific geographical areas and has primarily focused on young autistic individuals (aged 35 years and younger). Recent studies indicate a higher rate of mortality in autistic people, as well as poorer quality of self-reported
-
Cortex-restricted deletion of Foxp1 impairs barrel formation and induces aberrant tactile responses in a mouse model of autism Mol. Autism (IF 6.2) Pub Date : 2023-09-11 Xue Li, Shishuai Hao, Shimin Zou, Xiaomeng Tu, Weixi Kong, Tian Jiang, Jie-Guang Chen
Many children and young people with autism spectrum disorder (ASD) display touch defensiveness or avoidance (hypersensitivity), or engage in sensory seeking by touching people or objects (hyposensitivity). Abnormal sensory responses have also been noticed in mice lacking ASD-associated genes. Tactile sensory information is normally processed by the somatosensory system that travels along the thalamus
-
Autistic adults benefit from and enjoy learning via social interaction as much as neurotypical adults do Mol. Autism (IF 6.2) Pub Date : 2023-09-06 S. De Felice, A. Hatilova, F. Trojan, I. Tsui, Antonia F. de C. Hamilton
Autistic people show poor processing of social signals (i.e. about the social world). But how do they learn via social interaction? 68 neurotypical adults and 60 autistic adults learned about obscure items (e.g. exotic animals) over Zoom (i) in a live video-call with the teacher, (ii) from a recorded learner-teacher interaction video and (iii) from a recorded teacher-alone video. Data were analysed
-
Linking functional and structural brain organisation with behaviour in autism: a multimodal EU-AIMS Longitudinal European Autism Project (LEAP) study Mol. Autism (IF 6.2) Pub Date : 2023-08-31 Lennart M. Oblong, Alberto Llera, Ting Mei, Koen Haak, Christina Isakoglou, Dorothea L. Floris, Sarah Durston, Carolin Moessnang, Tobias Banaschewski, Simon Baron-Cohen, Eva Loth, Flavio Dell’Acqua, Tony Charman, Declan G. M. Murphy, Christine Ecker, Jan K. Buitelaar, Christian F. Beckmann, Natalie J. Forde
Neuroimaging analyses of brain structure and function in autism have typically been conducted in isolation, missing the sensitivity gains of linking data across modalities. Here we focus on the integration of structural and functional organisational properties of brain regions. We aim to identify novel brain-organisation phenotypes of autism. We utilised multimodal MRI (T1-, diffusion-weighted and
-
Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium Mol. Autism (IF 6.2) Pub Date : 2023-08-28 Zachary J. Williams, Roseann Schaaf, Karla K. Ausderau, Grace T. Baranek, D. Jonah Barrett, Carissa J. Cascio, Rachel L. Dumont, Ekomobong E. Eyoh, Michelle D. Failla, Jacob I. Feldman, Jennifer H. Foss-Feig, Heather L. Green, Shulamite A. Green, Jason L. He, Elizabeth A. Kaplan-Kahn, Bahar Keçeli-Kaysılı, Keren MacLennan, Zoe Mailloux, Elysa J. Marco, Lisa E. Mash, Elizabeth P. McKernan, Sophie Molholm
Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these “supra-modal” traits in the autistic population. Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages
-
Sex-specific and sex-independent steroid-related biomarkers in early second trimester maternal serum associated with autism Mol. Autism (IF 6.2) Pub Date : 2023-08-12 Deborah A. Bilder, Whitney Worsham, Scott Sullivan, M. Sean Esplin, Paul Burghardt, Alison Fraser, Amanda V. Bakian
Prenatal exposure to maternal metabolic conditions associated with inflammation and steroid dysregulation has previously been linked to increased autism risk. Steroid-related maternal serum biomarkers have also provided insight into the in utero steroid environment for offspring who develop autism. This study examines the link between autism among offspring and early second trimester maternal steroid-related
-
Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels Mol. Autism (IF 6.2) Pub Date : 2023-08-08 Edgars Liepinsh, Baiba Svalbe, Gundega Stelfa, Solveiga Grinberga, Liga Zvejniece, Helgi B. Schiöth, Maija Dambrova
Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD). Researchers have suggested that carnitine depletion could be important for the development of ASD and cognitive, locomotor and social dysfunctions, but previous findings
-
Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling Mol. Autism (IF 6.2) Pub Date : 2023-08-01 Jessica Pagano, Silvia Landi, Alessia Stefanoni, Gabriele Nardi, Marica Albanesi, Helen F. Bauer, Enrico Pracucci, Michael Schön, Gian Michele Ratto, Tobias M. Boeckers, Carlo Sala, Chiara Verpelli
Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic-like behaviors and is primarily caused by haploinsufficiency of SHANK3 gene. Currently, there is no specific treatment for PMS, highlighting the need for a better understanding of SHANK3 functions and the underlying pathophysiological mechanisms in the brain. We
-
Personalized estimates of brain cortical structural variability in individuals with Autism spectrum disorder: the predictor of brain age and neurobiology relevance Mol. Autism (IF 6.2) Pub Date : 2023-07-28 Yingying Xie, Jie Sun, Weiqi Man, Zhang Zhang, Ningnannan Zhang
Autism spectrum disorder (ASD) is a heritable condition related to brain development that affects a person’s perception and socialization with others. Here, we examined variability in the brain morphology in ASD children and adolescent individuals at the level of brain cortical structural profiles and the level of each brain regional measure. We selected brain structural MRI data in 600 ASDs and 729
-
Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review Mol. Autism (IF 6.2) Pub Date : 2023-07-25 Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review
-
Rhesus macaque social functioning is paternally, but not maternally, inherited by sons: potential implications for autism Mol. Autism (IF 6.2) Pub Date : 2023-07-21 Joseph P. Garner, Catherine F. Talbot, Laura A. Del Rosso, Brenda McCowan, Sreetharan Kanthaswamy, David Haig, John P. Capitanio, Karen J. Parker
Quantitative autistic traits are common, heritable, and continuously distributed across the general human population. Patterns of autistic traits within families suggest that more complex mechanisms than simple Mendelian inheritance—in particular, parent of origin effects—may be involved. The ideal strategy for ascertaining parent of origin effects is by half-sibling analysis, where half-siblings share
-
Correction: Understanding the relationship between cerebellar structure and social abilities Mol. Autism (IF 6.2) Pub Date : 2023-07-05 Yannis Elandaloussi, Dorothea L. Floris, Pierrick Coupé, Edouard Duchesnay, Angeline Mihailov, Antoine Grigis, Indrit Bègue, Julie Victor, Vincent Frouin, Marion Leboyer, Josselin Houenou, Charles Laidi
Correction : Molecular Autism (2023) 14:18 https://doi.org/10.1186/s13229-023-00551-8 Following publication of the original article [1], the authors identified errors in the affiliation: Affiliation 2 was presented incorrectly and affiliation 14 was incorrectly captured as affiliation and should have been removed. This error is corrected in the affiliations list of this Correction article and the original
-
Autism-associated gene shank3 is necessary for social contagion in zebrafish Mol. Autism (IF 6.2) Pub Date : 2023-06-30 Kyriacos Kareklas, Magda C. Teles, Elena Dreosti, Rui F. Oliveira
Animal models enable targeting autism-associated genes, such as the shank3 gene, to assess their impact on behavioural phenotypes. However, this is often limited to simple behaviours relevant for social interaction. Social contagion is a complex phenotype forming the basis of human empathic behaviour and involves attention to the behaviour of others for recognizing and sharing their emotional or affective
-
Exploratory analysis of L1 retrotransposons expression in autism Mol. Autism (IF 6.2) Pub Date : 2023-06-28 Giovanni Spirito, Michele Filosi, Enrico Domenici, Damiano Mangoni, Stefano Gustincich, Remo Sanges
Autism spectrum disorder (ASD) is a set of highly heterogeneous neurodevelopmental diseases whose genetic etiology is not completely understood. Several investigations have relied on transcriptome analysis from peripheral tissues to dissect ASD into homogenous molecular phenotypes. Recently, analysis of changes in gene expression from postmortem brain tissues has identified sets of genes that are involved
-
Shank2 identifies a subset of glycinergic neurons involved in altered nociception in an autism model Mol. Autism (IF 6.2) Pub Date : 2023-06-14 Florian Olde Heuvel, Najwa Ouali Alami, Oumayma Aousji, Esther Pogatzki-Zahn, Peter K. Zahn, Hanna Wilhelm, Dhruva Deshpande, Elmira Khatamsaz, Alberto Catanese, Sarah Woelfle, Michael Schön, Sanjay Jain, Stefanie Grabrucker, Albert C. Ludolph, Chiara Verpelli, Jens Michaelis, Tobias M. Boeckers, Francesco Roselli
Autism Spectrum Disorders (ASD) patients experience disturbed nociception in the form of either hyposensitivity to pain or allodynia. A substantial amount of processing of somatosensory and nociceptive stimulus takes place in the dorsal spinal cord. However, many of these circuits are not very well understood in the context of nociceptive processing in ASD. We have used a Shank2−/− mouse model, which
-
SETD5 haploinsufficiency affects mitochondrial compartment in neural cells Mol. Autism (IF 6.2) Pub Date : 2023-06-01 Mattia Zaghi, Fabiana Longo, Luca Massimino, Alicia Rubio, Simone Bido, Pietro Giuseppe Mazzara, Edoardo Bellini, Federica Banfi, Paola Podini, Francesca Maltecca, Alessio Zippo, Vania Broccoli, Alessandro Sessa
Neurodevelopmental disorders (NDDs) are heterogeneous conditions due to alterations of a variety of molecular mechanisms and cell dysfunctions. SETD5 haploinsufficiency leads to NDDs due to chromatin defects. Epigenetic basis of NDDs has been reported in an increasing number of cases while mitochondrial dysfunctions are more common within NDD patients than in the general population. We investigated
-
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach Mol. Autism (IF 6.2) Pub Date : 2023-05-23 Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel Chawner, Jan Stochl, Tamsin Ford, F. Lucy Raymond, Valentina Escott-Price, Marianne B. M. van den Bree
Genomic conditions can be associated with developmental delay, intellectual disability, autism spectrum disorder, and physical and mental health symptoms. They are individually rare and highly variable in presentation, which limits the use of standard clinical guidelines for diagnosis and treatment. A simple screening tool to identify young people with genomic conditions associated with neurodevelopmental
-
Understanding the relationship between cerebellar structure and social abilities Mol. Autism (IF 6.2) Pub Date : 2023-05-15 Yannis Elandaloussi, Dorothea L. Floris, Pierrick Coupé, Edouard Duchesnay, Angeline Mihailov, Antoine Grigis, Indrit Bègue, Julie Victor, Vincent Frouin, Marion Leboyer, Josselin Houenou, Charles Laidi
The cerebellum contains more than 50% of all neurons in the brain and is involved in a broad range of cognitive functions, including social communication and social cognition. Inconsistent atypicalities in the cerebellum have been reported in individuals with autism compared to controls suggesting the limits of categorical case control comparisons. Alternatively, investigating how clinical dimensions
-
Genetic and environmental contributions to co-occurring physical health conditions in autism spectrum condition and attention-deficit/hyperactivity disorder Mol. Autism (IF 6.2) Pub Date : 2023-04-21 Pei-Yin Pan, Mark J. Taylor, Henrik Larsson, Catarina Almqvist, Paul Lichtenstein, Sebastian Lundström, Sven Bölte
Autism spectrum condition and attention-deficit/hyperactivity disorder (ADHD) are associated with a range of physical health conditions. The aim of this study was to examine the etiological components contributing to co-occurring physical health conditions in autism and ADHD. In this nationwide Child and Adolescent Twin Study in Sweden, we analyzed data from 10,347 twin pairs aged 9 and 12. Clinical
-
Effects of multiple-dose intranasal oxytocin administration on social responsiveness in children with autism: a randomized, placebo-controlled trial Mol. Autism (IF 6.2) Pub Date : 2023-04-20 Nicky Daniels, Matthijs Moerkerke, Jean Steyaert, Annelies Bamps, Edward Debbaut, Jellina Prinsen, Tiffany Tang, Stephanie Van der Donck, Bart Boets, Kaat Alaerts
Intranasal administration of oxytocin is increasingly explored as a new approach to facilitate social development and reduce disability associated with a diagnosis of autism spectrum disorder (ASD). The efficacy of multiple-dose oxytocin administration in children with ASD is, however, not well established. A double-blind, randomized, placebo-controlled trial with parallel design explored the effects
-
A working taxonomy for describing the sensory differences of autism Mol. Autism (IF 6.2) Pub Date : 2023-04-11 Jason L. He, Zachary J. Williams, Ashley Harris, Helen Powell, Roseann Schaaf, Teresa Tavassoli, Nicolaas A. J. Puts
Individuals on the autism spectrum have been long described to process sensory information differently than neurotypical individuals. While much effort has been leveraged towards characterizing and investigating the neurobiology underlying the sensory differences of autism, there has been a notable lack of consistency in the terms being used to describe the nature of those differences. We argue that
-
The activation of mGluR4 rescues parallel fiber synaptic transmission and LTP, motor learning and social behavior in a mouse model of Fragile X Syndrome Mol. Autism (IF 6.2) Pub Date : 2023-04-07 Ricardo Martín, Alberto Samuel Suárez-Pinilla, Nuria García-Font, M. Luisa Laguna-Luque, Juan C. López-Ramos, María Jesús Oset-Gasque, Agnes Gruart, José M. Delgado-García, Magdalena Torres, José Sánchez-Prieto
Fragile X syndrome (FXS), the most common inherited intellectual disability, is caused by the loss of expression of the Fragile X Messenger Ribonucleoprotein (FMRP). FMRP is an RNA-binding protein that negatively regulates the expression of many postsynaptic as well as presynaptic proteins involved in action potential properties, calcium homeostasis and neurotransmitter release. FXS patients and mice
-
Sex differences in the temporal dynamics of autistic children’s natural conversations Mol. Autism (IF 6.2) Pub Date : 2023-04-06 Sunghye Cho, Meredith Cola, Azia Knox, Maggie Rose Pelella, Alison Russell, Aili Hauptmann, Maxine Covello, Christopher Cieri, Mark Liberman, Robert T. Schultz, Julia Parish-Morris
Autistic girls are underdiagnosed compared to autistic boys, even when they experience similar clinical impact. Research suggests that girls present with distinct symptom profiles across a variety of domains, such as language, which may contribute to their underdiagnosis. In this study, we examine sex differences in the temporal dynamics of natural conversations between naïve adult confederates and
-
A systematic review and meta-analysis of suicidality in autistic and possibly autistic people without co-occurring intellectual disability Mol. Autism (IF 6.2) Pub Date : 2023-03-15 Victoria Newell, Lucy Phillips, Chris Jones, Ellen Townsend, Caroline Richards, Sarah Cassidy
Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted suicide. However, prevalence rates for both autistic and possibly autistic people have not been synthesised meta-analytically. To (1) calculate pooled prevalence estimates of suicidality in autistic people and possibly autistic people without
-
Atypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD Mol. Autism (IF 6.2) Pub Date : 2023-03-10 Yaqiong Xiao, Teresa H. Wen, Lauren Kupis, Lisa T. Eyler, Vani Taluja, Jaden Troxel, Disha Goel, Michael V. Lombardo, Karen Pierce, Eric Courchesne
Social and language abilities are closely intertwined during early typical development. In autism spectrum disorder (ASD), however, deficits in social and language development are early-age core symptoms. We previously reported that superior temporal cortex, a well-established social and language region, shows reduced activation to social affective speech in ASD toddlers; however, the atypical cortical
-
Sex differences in social and emotional insight in youth with and without autism Mol. Autism (IF 6.2) Pub Date : 2023-03-04 Hunter Mattern, Meredith Cola, Kimberly G. Tena, Azia Knox, Alison Russell, Maggie Rose Pelella, Aili Hauptmann, Maxine Covello, Julia Parish-Morris, Joseph P. McCleery
Autism was formally recognized by the medical community in the first half of the twentieth century. Almost 100 years later, a small but growing literature has reported sex differences in the behavioral expression of autism. Recent research has also begun to explore the internal experiences of individuals with autism, including social and emotional insight. The current study examines sex differences
-
Sex differences in friendships and loneliness in autistic and non-autistic children across development Mol. Autism (IF 6.2) Pub Date : 2023-02-24 Natalie Libster, Azia Knox, Selin Engin, Daniel Geschwind, Julia Parish-Morris, Connie Kasari
Autistic children have been shown to have less complete definitions of friendships and higher levels of loneliness than their non-autistic peers. However, no known studies have explored sex differences in autistic children’s understanding of friendships and reported loneliness across development. Autistic girls demonstrate higher levels of social motivation than autistic boys and appear to “fit in”
-
Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder Mol. Autism (IF 6.2) Pub Date : 2023-02-20 Lucia F. Cardo, Daniel C. de la Fuente, Meng Li
Disruptions of SETBP1 (SET binding protein 1) on 18q12.3 by heterozygous gene deletion or loss-of-function variants cause SETBP1 disorder. Clinical features are frequently associated with moderate to severe intellectual disability, autistic traits and speech and motor delays. Despite the association of SETBP1 with neurodevelopmental disorders, little is known about its role in brain development. Using
-
CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions Mol. Autism (IF 6.2) Pub Date : 2023-02-14 Bethany Vibert, Patricia Segura, Louise Gallagher, Stelios Georgiades, Panagiota Pervanidou, Audrey Thurm, Lindsay Alexander, Evdokia Anagnostou, Yuta Aoki, Catherine S. Birken, Somer L. Bishop, Jessica Boi, Carmela Bravaccio, Helena Brentani, Paola Canevini, Alessandra Carta, Alice Charach, Antonella Costantino, Katherine T. Cost, Elaine A Cravo, Jennifer Crosbie, Chiara Davico, Federica Donno, Junya
Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and
-
The subcortical correlates of autistic traits in school-age children: a population-based neuroimaging study Mol. Autism (IF 6.2) Pub Date : 2023-02-11 T. H. Sharp, M. Elsabbagh, A. Pickles, R. Bedford
There is emerging evidence that the neuroanatomy of autism forms a spectrum which extends into the general population. However, whilst several studies have identified cortical morphology correlates of autistic traits, it is not established whether morphological differences are present in the subcortical structures of the brain. Additionally, it is not clear to what extent previously reported structural
-
Sensory salience processing moderates attenuated gazes on faces in autism spectrum disorder: a case–control study Mol. Autism (IF 6.2) Pub Date : 2023-02-09 Nico Bast, Luke Mason, Christine Ecker, Sarah Baumeister, Tobias Banaschewski, Emily J. H. Jones, Declan G. M. Murphy, Jan K. Buitelaar, Eva Loth, Gahan Pandina, Christine M. Freitag
Attenuated social attention is a key marker of autism spectrum disorder (ASD). Recent neuroimaging findings also emphasize an altered processing of sensory salience in ASD. The locus coeruleus–norepinephrine system (LC-NE) has been established as a modulator of this sensory salience processing (SSP). We tested the hypothesis that altered LC-NE functioning contributes to different SSP and results in