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
Fumiyo Oshima, Toru Takahashi, Masaki Tamura, Siqing Guan, Mikuko Seto, Laura Hull, William Mandy, Kenji Tsuchiya, Eiji Shimizu
BACKGROUND: 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. METHODS: 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 of the Camouflaging Autistic Traits Questionnaire and mental health scales, including depression and anxiety, were assessed...
January 4, 2024: Molecular Autism
Doha Bemmouna, Amine Lagzouli, Luisa Weiner
BACKGROUND: 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 its treatment. Our study investigates ED, its behavioural correlates (e...
December 18, 2023: Molecular Autism
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
BACKGROUND: 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). METHOD: 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 Parents Project (CUSP) cohort. In both cohorts, maternal autistic traits were assessed using the short form of the Autism Spectrum Quotient, and information about maternal height and weight before pregnancy was obtained by questionnaire...
December 8, 2023: Molecular Autism
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
BACKGROUND: 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 the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]...
November 27, 2023: Molecular Autism
Simon Maier, Kathrin Nickel, Thomas Lange, Georg Oeltzschner, Michael Dacko, Dominique Endres, Kimon Runge, Anke Schumann, Katharina Domschke, Michalis Rousos, Ludger Tebartz van Elst
INTRODUCTION: 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. This study aimed to examine cerebral lactate (Lac+) levels in high-functioning adults with ASD, hypothesizing elevated mean Lac+ concentrations in contrast to neurotypical controls (NTCs)...
November 17, 2023: Molecular Autism
Ana Belen Lopez-Rodriguez, Carol L Murray, John Kealy, Clodagh Towns, Andrew Roche, Arshed Nazmi, Michelle Doran, John P Lowry, Colm Cunningham
BACKGROUND: 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 of ASD. METHODS: We used a 4 h whole-body hyperthermia (WBH) protocol and, separately, systemic inflammation induced by bacterial endotoxin (LPS) at 250 µg/kg, to dissociate temperature and inflammatory elements of fever in two ASD animal models: C58/J and Shank3B- mice...
November 15, 2023: Molecular Autism
Shanshan Zhao, Xiangyu Jiang, Linkun Han, Yiru Jiang, Yong Wang, Jian Meng, Xiang Zhu, Xian Zhang, Hong Luo, Yun-Wu Zhang
BACKGROUND: 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 in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown...
November 7, 2023: Molecular Autism
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
OBJECTIVE: 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 delineate atypical WM microstructure throughout early childhood while taking developmental considerations into account...
October 30, 2023: Molecular Autism
Daria Kostanian, Anna Rebreikina, Victoria Voinova, Olga Sysoeva
BACKGROUND: 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 peers. Neurophysiological correlates of auditory processing have been also found to be distorted in RS, but sound presentation rates were relatively quick in these studies (stimulus onset asynchrony, SOA < 1000 ms)...
October 26, 2023: Molecular Autism
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
BACKGROUND: 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 of rapamycin complex 1 (mTORC1) signaling. Loss of TSC1 or TSC2 activates mTORC1 that, among several targets, controls protein synthesis by inhibiting translational repressor eIF4E-binding proteins...
October 25, 2023: Molecular Autism
Melis E Cakar, Kaitlin K Cummings, Susan Y Bookheimer, Mirella Dapretto, Shulamite A Green
BACKGROUND: 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. METHODS: Here, we used functional magnetic resonance imaging (fMRI) to investigate the association between age and neural activity linearly and nonlinearly in response to mildly aversive sensory stimulation as well as how SOR severity moderates this association...
October 11, 2023: Molecular Autism
Christian O'Reilly, Scott Huberty, Stefon van Noordt, James Desjardins, Nicky Wright, Julie Scorah, Sara Jane Webb, Mayada Elsabbagh
BACKGROUND: 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. METHODS: We used a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years of life. EEG was recorded at 6 and 12 months of age in infants at typical (N = 92) or elevated likelihood for ASD (N = 90), determined by the presence of an older sibling with ASD...
October 7, 2023: Molecular Autism
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
BACKGROUND: 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 attention-deficit/hyperactivity disorder (ADHD). This study aimed to (1) investigate between-group differences in autistic individuals with and without co-occurring ADHD, and to (2) link these variances to putative genomic underpinnings...
October 4, 2023: Molecular Autism
John H Ward, Elizabeth Weir, Carrie Allison, Simon Baron-Cohen
BACKGROUND: 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 healthcare interactions. This study aims to determine, first, whether autistic people experience greater levels of non-communicable health conditions and second, whether these are explained by differences in demographics (i...
September 20, 2023: Molecular Autism
Xue Li, Shishuai Hao, Shimin Zou, Xiaomeng Tu, Weixi Kong, Tian Jiang, Jie-Guang Chen
BACKGROUND: 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 to the primary somatosensory cortex. The neurobiology behind tactile sensory abnormalities, however, is not fully understood...
September 11, 2023: Molecular Autism
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