Victoria Newell, Lucy Phillips, Chris Jones, Ellen Townsend, Caroline Richards, Sarah Cassidy
BACKGROUND: 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. AIMS: To (1) calculate pooled prevalence estimates of suicidality in autistic people and possibly autistic people without co-occurring intellectual disability; (2) evaluate the influence of participant and study level characteristics on heterogeneity; and (3) determine the quality of evidence...
March 15, 2023: Molecular Autism
Yaqiong Xiao, Teresa H Wen, Lauren Kupis, Lisa T Eyler, Vani Taluja, Jaden Troxel, Disha Goel, Michael V Lombardo, Karen Pierce, Eric Courchesne
BACKGROUND: 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 connectivity that accompanies this deviance remains unknown. METHODS: We collected clinical, eye tracking, and resting-state fMRI data from 86 ASD and non-ASD subjects (mean age 2...
March 10, 2023: Molecular Autism
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 in language-based markers of social and emotional insight in girls and boys with autism and non-autistic peers during semi-structured clinical interviews...
March 4, 2023: Molecular Autism
Natalie Libster, Azia Knox, Selin Engin, Daniel Geschwind, Julia Parish-Morris, Connie Kasari
BACKGROUND: 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" with their peers, but they often have difficulty recognizing reciprocal friendships during middle childhood...
February 24, 2023: Molecular Autism
Lucia F Cardo, Daniel C de la Fuente, Meng Li
BACKGROUND: 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. METHODS: Using CRISPR/Cas9 genome editing technology, we generated a SETBP1 deletion model in human embryonic stem cells (hESCs) and examined the effects of SETBP1-deficiency in neural progenitors (NPCs) and neurons derived from these stem cells using a battery of cellular assays, genome-wide transcriptomic profiling and drug-based phenotypic rescue...
February 20, 2023: Molecular Autism
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 Fujino, Alessandra Gabellone, Cristiane T Geyer, Tomoya Hirota, Stephen Kanne, Makiko Kawashima, Elizabeth Kelley, Hosanna Kim, Young Shin Kim, So Hyun Kim, Daphne J Korczak, Meng-Chuan Lai, Lucia Margari, Lucia Marzulli, Gabriele Masi, Luigi Mazzone, Jane McGrath, Suneeta Monga, Paola Morosini, Shinichiro Nakajima, Antonio Narzisi, Rob Nicolson, Aki Nikolaidis, Yoshihiro Noda, Kerri Nowell, Miriam Polizzi, Joana Portolese, Maria Pia Riccio, Manabu Saito, Ida Schwartz, Anish K Simhal, Martina Siracusano, Stefano Sotgiu, Jacob Stroud, Fernando Sumiya, Yoshiyuki Tachibana, Nicole Takahashi, Riina Takahashi, Hiroki Tamon, Raffaella Tancredi, Benedetto Vitiello, Alessandro Zuddas, Bennett Leventhal, Kathleen Merikangas, Michael P Milham, Adriana Di Martino
BACKGROUND: 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 access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR)...
February 14, 2023: Molecular Autism
T H Sharp, M Elsabbagh, A Pickles, R Bedford
BACKGROUND: 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 associations may be confounded by co-occurring psychopathology. To address these questions, we utilised neuroimaging data from the Adolescent Brain Cognitive Development Study to assess whether a measure of autistic traits was associated with differences in child subcortical morphology, and if any observed differences persisted after adjustment for child internalising and externalising symptoms...
February 11, 2023: Molecular Autism
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
BACKGROUND: 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 diverging social attention in ASD. METHODS: We analyzed the baseline eye-tracking data of the EU-AIMS Longitudinal European Autism Project (LEAP) for subgroups of autistic participants (n = 166, age = 6-30 years, IQ = 61-138, gender [female/male] = 41/125) or neurotypical development (TD; n = 166, age = 6-30 years, IQ = 63-138, gender [female/male] = 49/117) that were matched for demographic variables and data quality...
February 9, 2023: Molecular Autism
Zachary A Schaaf, Lyvin Tat, Noemi Cannizzaro, Alexios A Panoutsopoulos, Ralph Green, Thomas Rülicke, Simon Hippenmeyer, Konstantinos S Zarbalis
No abstract text is available yet for this article.
January 31, 2023: Molecular Autism
Natali Bozhilova, Alice Welham, Dawn Adams, Stacey Bissell, Hilgo Bruining, Hayley Crawford, Kate Eden, Lisa Nelson, Christopher Oliver, Laurie Powis, Caroline Richards, Jane Waite, Peter Watson, Hefin Rhys, Lucy Wilde, Kate Woodcock, Joanna Moss
BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of > 1500 individuals with rare genetic syndromes...
January 13, 2023: Molecular Autism
Pierre Desaunay, Bérengère Guillery, Edgar Moussaoui, Francis Eustache, Dermot M Bowler, Fabian Guénolé
The long-described atypicalities of memory functioning experienced by people with autism have major implications for daily living, academic learning, as well as cognitive remediation. Though behavioral studies have identified a robust profile of memory strengths and weaknesses in autism spectrum disorder (ASD), few works have attempted to establish a synthesis concerning their neural bases. In this systematic review of functional neuroimaging studies, we highlight functional brain asymmetries in three anatomical planes during memory processing between individuals with ASD and typical development...
January 10, 2023: Molecular Autism
Ekaterina Atanasova, Andrea Pérez Arévalo, Ines Graf, Rong Zhang, Juergen Bockmann, Anne-Kathrin Lutz, Tobias M Boeckers
BACKGROUND: Autism spectrum disorder (ASD) is mainly characterized by deficits in social interaction and communication and repetitive behaviors. Known causes of ASD are mutations of certain risk genes like the postsynaptic protein SHANK3 and environmental factors including prenatal infections. METHODS: To analyze the gene-environment interplay in ASD, we combined the Shank3Δ11-/- ASD mouse model with maternal immune activation (MIA) via an intraperitoneal injection of polyinosinic/polycytidylic acid (Poly I:C) on gestational day 12...
January 5, 2023: Molecular Autism
Tristan Looden, Dorothea L Floris, Alberto Llera, Roselyne J Chauvin, Tony Charman, Tobias Banaschewski, Declan Murphy, Andre F Marquand, Jan K Buitelaar, Christian F Beckmann
BACKGROUND: Autism spectrum disorder (autism) is a complex neurodevelopmental condition with pronounced behavioral, cognitive, and neural heterogeneities across individuals. Here, our goal was to characterize heterogeneity in autism by identifying patterns of neural diversity as reflected in BOLD fMRI in the way individuals with autism engage with a varied array of cognitive tasks. METHODS: All analyses were based on the EU-AIMS/AIMS-2-TRIALS multisite Longitudinal European Autism Project (LEAP) with participants with autism (n = 282) and typically developing (TD) controls (n = 221) between 6 and 30 years of age...
December 27, 2022: Molecular Autism
Xiaonan Guo, Guangjin Zhai, Junfeng Liu, Yabo Cao, Xia Zhang, Dong Cui, Le Gao
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical heterogeneity. This study aimed to explore the heterogeneity of ASD based on inter-individual heterogeneity of functional brain networks. METHODS: Resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange database were used in this study for 105 children with ASD and 102 demographically matched typical controls (TC) children...
December 26, 2022: Molecular Autism
Natalie Libster, Azia Knox, Selin Engin, Daniel Geschwind, Julia Parish-Morris, Connie Kasari
BACKGROUND: Autistic children report higher levels of bullying victimization than their non-autistic peers. However, autistic children with fewer social difficulties, as measured on the Autism Diagnostic Observation Schedule (ADOS), are more likely to report being bullied. Autistic children with stronger social skills may not only be more likely to identify and report incidents of bullying, but they may also be more likely to interact with their non-autistic peers, increasing their likelihood of being victimized...
December 24, 2022: Molecular Autism
Rebecca M Pollak, Jordan E Pincus, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Celine A Saulnier, Elaine F Walker, Stormi Pulver White, Jennifer G Mulle
BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R)...
December 24, 2022: Molecular Autism
Antonis Asiminas, Sam A Booker, Owen R Dando, Zrinko Kozic, Daisy Arkell, Felicity H Inkpen, Anna Sumera, Irem Akyel, Peter C Kind, Emma R Wood
BACKGROUND: Fragile X syndrome (FXS) is a common single gene cause of intellectual disability and autism spectrum disorder. Cognitive inflexibility is one of the hallmarks of FXS with affected individuals showing extreme difficulty adapting to novel or complex situations. To explore the neural correlates of this cognitive inflexibility, we used a rat model of FXS (Fmr1-/y ). METHODS: We recorded from the CA1 in Fmr1-/y and WT littermates over six 10-min exploration sessions in a novel environment-three sessions per day (ITI 10 min)...
December 20, 2022: Molecular Autism
Olivia Surgent, Ali Riaz, Karla K Ausderau, Nagesh Adluru, Gregory R Kirk, Jose Guerrero-Gonzalez, Emily C Skaletski, Steven R Kecskemeti, Douglas C Dean Iii, Susan Ellis Weismer, Andrew L Alexander, Brittany G Travers
BACKGROUND: Elevated or reduced responses to sensory stimuli, known as sensory features, are common in autistic individuals and often impact quality of life. Little is known about the neurobiological basis of sensory features in autistic children. However, the brainstem may offer critical insights as it has been associated with both basic sensory processing and core features of autism. METHODS: Diffusion-weighted imaging (DWI) and parent-report of sensory features were acquired from 133 children (61 autistic children with and 72 non-autistic children, 6-11 years-old)...
December 19, 2022: Molecular Autism
Lauren M Schmitt, Joy Li, Rui Liu, Paul S Horn, John A Sweeney, Craig A Erickson, Ernest V Pedapati
BACKGROUND: Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and autism spectrum disorder. Executive function (EF), necessary for adaptive goal-oriented behavior and dependent on frontal lobe function, is impaired in individuals with FXS. Yet, little is known how alterations in frontal lobe neural activity is related to EF deficits in FXS. METHODS: Sixty-one participants with FXS (54% males) and 71 age- and sex-matched typically-developing controls (TDC; 58% males) completed a five-minute resting state electroencephalography (EEG) protocol and a computerized battery of tests of EF, the Test of Attentional Performance for Children (KiTAP)...
December 9, 2022: Molecular Autism
Virginia Carter Leno, Jannath Begum-Ali, Amy Goodwin, Luke Mason, Greg Pasco, Andrew Pickles, Shruti Garg, Jonathan Green, Tony Charman, Mark H Johnson, Emily J H Jones
BACKGROUND: Autism is proposed to be characterised by an atypical balance of cortical excitation and inhibition (E/I). However, most studies have examined E/I alterations in older autistic individuals, meaning that findings could in part reflect homeostatic compensation. To assess the directionality of effects, it is necessary to examine alterations in E/I balance early in the lifespan before symptom emergence. Recent explanatory frameworks have argued that it is also necessary to consider how early risk features interact with later developing modifier factors to predict autism outcomes...
December 8, 2022: Molecular Autism
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