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
S De Felice, A Hatilova, F Trojan, I Tsui, Antonia F de C Hamilton
BACKGROUND: Autistic people show poor processing of social signals (i.e. about the social world). But how do they learn via social interaction? METHODS: 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 via analysis of variance and multi-level regression models...
September 6, 2023: Molecular Autism
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 resting state functional), behavioural and clinical data from the EU AIMS Longitudinal European Autism Project (LEAP) from autistic (n = 206) and non-autistic (n = 196) participants...
August 31, 2023: Molecular Autism
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, Stewart H Mostofsky, Nicolaas A J Puts, Caroline E Robertson, Natalie Russo, Nicole Shea, John Sideris, James S Sutcliffe, Teresa Tavassoli, Mark T Wallace, Ericka L Wodka, Tiffany G Woynaroski
BACKGROUND: 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. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities...
August 28, 2023: Molecular Autism
Deborah A Bilder, Whitney Worsham, Scott Sullivan, M Sean Esplin, Paul Burghardt, Alison Fraser, Amanda V Bakian
BACKGROUND: 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. OBJECTIVE: This study examines the link between autism among offspring and early second trimester maternal steroid-related serum biomarkers from pregnancies enriched for prenatal metabolic syndrome (PNMS) exposure...
August 12, 2023: Molecular Autism
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 have been inconclusive regarding the specific role of endogenous carnitine. We developed a mouse knockout model with constitutive TMLD enzyme inactivation that exhibited a significant decrease in the carnitine by more than 90% compared to wild-type (WT) mice...
August 8, 2023: Molecular Autism
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
BACKGROUND: 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 hypothesize that SHANK3 haploinsufficiency may lead to alterations in the inhibitory system, which could be linked to the excitatory/inhibitory imbalance observed in models of autism spectrum disorder (ASD)...
August 1, 2023: Molecular Autism
Yingying Xie, Jie Sun, Weiqi Man, Zhang Zhang, Ningnannan Zhang
BACKGROUND: 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. METHODS: We selected brain structural MRI data in 600 ASDs and 729 normal controls (NCs) from Autism Brain Imaging Data Exchange (ABIDE)...
July 28, 2023: Molecular Autism
Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R Kapoor
BACKGROUND: 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 aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions...
July 25, 2023: Molecular Autism
Joseph P Garner, Catherine F Talbot, Laura A Del Rosso, Brenda McCowan, Sreetharan Kanthaswamy, David Haig, John P Capitanio, Karen J Parker
BACKGROUND: 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 one, but not both, parents and each individual belongs to a unique combination of paternal and maternal half-siblings...
July 21, 2023: Molecular Autism
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
No abstract text is available yet for this article.
July 5, 2023: Molecular Autism
Kyriacos Kareklas, Magda C Teles, Elena Dreosti, Rui F Oliveira
BACKGROUND: 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 state. Thus, it is a form of social communication, which constitutes the most common developmental impairment across autism spectrum disorders (ASD)...
June 30, 2023: Molecular Autism
Giovanni Spirito, Michele Filosi, Enrico Domenici, Damiano Mangoni, Stefano Gustincich, Remo Sanges
BACKGROUND: 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 in pathways previously associated with ASD etiology. In addition to protein-coding transcripts, the human transcriptome is composed by a large set of non-coding RNAs and transposable elements (TEs)...
June 28, 2023: Molecular Autism
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
BACKGROUND: 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. METHODS: We have used a Shank2-/- mouse model, which displays a set of phenotypes reminiscent of ASD, and performed behavioural and microscopic analysis to investigate the role of dorsal horn circuitry in nociceptive processing of ASD...
June 14, 2023: Molecular Autism
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
BACKGROUND: 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. METHODS: We investigated in vitro neural stem cells as well as the brain of the Setd5 haploinsufficiency mouse model interrogating its transcriptome, analyzing mitochondrial structure, biochemical composition, and dynamics, as well as mitochondrial functionality...
June 1, 2023: Molecular Autism
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
BACKGROUND: 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 disorders (ND-GCs) who could benefit from further support would be of considerable value...
May 23, 2023: Molecular Autism
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
BACKGROUND: 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 are related to neuroanatomical features, in line with the Research Domain Criteria approach, might be more relevant...
May 15, 2023: Molecular Autism
Pei-Yin Pan, Mark J Taylor, Henrik Larsson, Catarina Almqvist, Paul Lichtenstein, Sebastian Lundström, Sven Bölte
BACKGROUND: 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. METHODS: In this nationwide Child and Adolescent Twin Study in Sweden, we analyzed data from 10,347 twin pairs aged 9 and 12. Clinical diagnoses of autism, ADHD, and physical health conditions were identified through the Swedish National Patient Register...
April 21, 2023: Molecular Autism
Nicky Daniels, Matthijs Moerkerke, Jean Steyaert, Annelies Bamps, Edward Debbaut, Jellina Prinsen, Tiffany Tang, Stephanie Van der Donck, Bart Boets, Kaat Alaerts
BACKGROUND: 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. METHODS: A double-blind, randomized, placebo-controlled trial with parallel design explored the effects of a 4-week intranasal oxytocin administration (12 IU, twice daily) on parent-rated social responsiveness (Social Responsiveness Scale: SRS-2) in pre-pubertal school-aged children (aged 8-12 years, 61 boys, 16 girls)...
April 20, 2023: Molecular Autism
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