Hannah E Laue, Kevin S Bonham, Modupe O Coker, Yuka Moroishi, Wimal Pathmasiri, Susan McRitchie, Susan Sumner, Anne G Hoen, Margaret R Karagas, Vanja Klepac-Ceraj, Juliette C Madan
BACKGROUND: Identifying modifiable risk factors of autism spectrum disorders (ASDs) may inform interventions to reduce financial burden. The infant/toddler gut microbiome is one such feature that has been associated with social behaviors, but results vary between cohorts. We aimed to identify consistent overall and sex-specific associations between the early-life gut microbiome and autism-related behaviors. METHODS: Utilizing the Environmental influences on Children Health Outcomes (ECHO) consortium of United States (U...
May 17, 2024: Molecular Autism
Yeshaya David M Greenberg, Rosemary Holt, Carrie Allison, Paula Smith, Robbie Newman, Theo Boardman-Pretty, Jonathan Haidt, Simon Baron-Cohen
BACKGROUND: Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing-systemizing (E-S) theory, to observe the nature of morality in autistic people and systemizers. METHODS: In dataset 1, we measured five foundations of moral judgements (Care, Fairness, Loyalty, Authority, and Sanctity) measured by the Moral Foundations Questionnaire (MFQ) in autistic (n = 307) and typical people (n = 415) along with their scores on the Empathy Quotient (EQ) and Systemizing Quotient (SQ)...
May 14, 2024: Molecular Autism
Vardan Arutiunian, Megha Santhosh, Emily Neuhaus, Heather Borland, Chris Tompkins, Raphael A Bernier, Susan Y Bookheimer, Mirella Dapretto, Abha R Gupta, Allison Jack, Shafali Jeste, James C McPartland, Adam Naples, John D Van Horn, Kevin A Pelphrey, Sara Jane Webb
BACKGROUND: Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. METHODS: We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD...
May 7, 2024: Molecular Autism
Blythe A Corbett, Rachael A Muscatello, Trey McGonigle, Simon Vandekar, Christina Burroughs, Sloane Sparks
BACKGROUND: Adolescence coincides with a dramatic rise in the onset of psychiatric conditions including depression. Depression symptoms may be particularly prevalent and impairing for youth with autism spectrum disorder (ASD). While prior research suggests adolescence is associated with worsening depression symptoms for typically developing (TD) and autistic youth, it is unclear if they follow a similar course. METHOD: The study examined the trajectory of depressive symptoms in autistic and neurotypical youth over a 4-year longitudinal study using linear and logistic mixed effects models...
May 2, 2024: Molecular Autism
Yi Mao, Xindi Lin, Yuhan Wu, Jiayi Lu, Jiayao Shen, Shaogen Zhong, Xingming Jin, Jun Ma
BACKGROUND: 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 with ASD are yet to be conducted. The present study mainly focuses on exploring the interactive effect between BA and FS in the context of ASD...
April 10, 2024: Molecular Autism
Zixuan Guo, Xinyue Tang, Shu Xiao, Hong Yan, Shilin Sun, Zibin Yang, Li Huang, Zhuoming Chen, Ying Wang
BACKGROUND: 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). METHODS: A whole-brain voxel-wise meta-analysis was conducted to compare the differences in the intrinsic functional activity and gray matter volume (GMV) between individuals with ASD and typically developing individuals (TDs) using Seed-based d Mapping software...
April 4, 2024: Molecular Autism
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
BACKGROUND: 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 is associated with stereotypic behavior and sociability. p38α, a mediator of inflammatory responses in the brain, has been postulated as a potential gene for certain cases of autism occurrence...
April 3, 2024: Molecular Autism
Tanya Leduc, Hiba El Alami, Khadija Bougadir, Erika Bélanger-Nelson, Valérie Mongrain
BACKGROUND: 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 deregulations of its expression were shown to cause epileptic-like hypersynchronized cerebral activity in rodents...
April 3, 2024: Molecular Autism
Eya-Mist Rødgaard, Borja Rodríguez-Herreros, Abderrahim Zeribi, Kristian Jensen, Valérie Courchesne, Elise Douard, David Gagnon, Guillaume Huguet, Sebastien Jacquemont, Laurent Mottron
BACKGROUND: 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 investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported...
April 3, 2024: Molecular Autism
Sadhna Rao, Anastasiia Sadybekov, David C DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E Herring
BACKGROUND: 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 of the TRIO-RAC1 pathway in ASD and ID. Furthermore, we identified a pathological de novo missense mutation hotspot in TRIO's GEF1 domain...
April 3, 2024: Molecular Autism
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
BACKGROUND: 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 in toddlers. METHODS: A total of 219 singleton pregnancies (104 males and 115 females) were recruited at the Rosie Hospital, Cambridge, UK...
February 28, 2024: Molecular Autism
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
BACKGROUND: 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 are associated with the severity of behavioral impairments and symptoms in ASD...
February 21, 2024: Molecular Autism
Feipeng Zhu, Qi Shi, Yong-Hui Jiang, Yong Q Zhang, Hui Zhao
BACKGROUND: 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 mutations, which displayed a spectrum of autism-like behaviors, such as social impairment and heightened anxiety...
January 31, 2024: Molecular Autism
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
BACKGROUND: 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 to low cerebrospinal fluid (CSF) arginine vasopressin (AVP) concentration...
January 31, 2024: Molecular Autism
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
BACKGROUND: 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. METHODS: We systematically searched PubMed/MEDLINE, Scopus, and Web of Science until April 15, 2023. We included randomized controlled trials (RCTs) with a parallel design that examined the efficacy of interventions for the treatment of irritability in patients of any age with ASD without any restrictions in terms of eligible interventions...
January 23, 2024: Molecular Autism
Bradley J Wilkes, Derek B Archer, Anna L Farmer, Carly Bass, Hannah Korah, David E Vaillancourt, Mark H Lewis
BACKGROUND: 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. METHODS: We utilized neuroimaging data from the National Institute of Mental Health Data Archive to assess basal ganglia and cerebellum structure in a cohort of children and adolescents with ASD compared to typically developing (TD) controls...
January 23, 2024: Molecular Autism
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
BACKGROUND: 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 of autism spectrum disorder (ASD) and intellectual disability. METHODS: We assembled a cohort of 15 Chinese pediatric patients, identified 13 variants in the coding region of ADNP gene, and evaluated their clinical phenotypes...
January 22, 2024: Molecular Autism
Nisha E Mathew, Delyse McCaffrey, Adam K Walker, Kylie-Ann Mallitt, Anne Masi, Margaret J Morris, Chee Y Ooi
BACKGROUND: 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 of studies measuring non-invasive markers of gastrointestinal inflammation in autistic and non-autistic samples...
January 17, 2024: Molecular Autism
Ting Mei, Alberto Llera, Natalie J Forde, Daan van Rooij, Dorothea L Floris, Christian F Beckmann, Jan K Buitelaar
BACKGROUND: 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 using data from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) autism working group...
January 17, 2024: Molecular Autism
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
BACKGROUND: 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 far, however, empirical investigations of this hypothesis have yielded mixed results and largely relied on relatively small samples...
January 10, 2024: Molecular Autism
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