307. The Relationship Between Neuropsychiatric Symptoms and Language Ability in Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. PMS is associated with autism, intellectual disability, neuropsychiatric symptoms, regression, and medical comorbidities. Here, we present a cohort of PMS individuals ascertained for psychiatric illness, comparing the prevalence of neuropsychiatric features across baseline verbal ability. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Kate Friedman, Tess Levy, Siddharth Srivastava, Teresa M. Kohlenberg, Alexander Kolevzon Source Type: research
96. Executive Function Mediates the Association Between Thalamo-Cortical Connectivity and Social Deficits in ASD
In this study, we explored the associations among thalamo-cortical connectivity, social deficits, and executive function in an ASD cohort. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Jasmine Chuah, Aisleen M.A. Manahan, Shi Yu Chan, Pei Huang, Lizhu Luo, Zhen Ming Ngoh, Michael J. Meaney, Ai Peng Tan Source Type: research
95. Along-Tract Mapping of Commissural Tract Microstructure Alterations in Autism Using Diffusion MRI
Autism is associated with subtle alterations in gray and white matter. While previous diffusion tensor imaging (DTI) studies in autism reported anatomical differences in the corpus callosum (CC), such work did not complete detailed regional microstructural mapping. To address this, we used the advanced tractography-based approach, BUndle ANalytics (BUAN), to analyze white matter microstructure in autism at a finer anatomical scale. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Gaon S. Kim, Sebastian M. Benavidez, Bramsh Q. Chandio, Katherine E. Lawrence, Paul M. Thompson Source Type: research
94. Patterns of Social Attention in Autistic Children: Influence of Co-Occurring ADHD Diagnosis
Atypical social attention measured via eye-tracking (ET) has been identified as a key characteristic of autism spectrum disorder (ASD). However, few of these ET studies have examined the role of Attention Deficit/Hyperactivity Disorder (ADHD), which is highly prevalent in ASD populations and is itself associated with attention. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Kimberly Carpenter, Samantha Major, Jordan Grapel, Elias Peters, Hannah Fung, Harshitha Akkineni, Lauren Franz, Naomi Davis, Scott Compton, Marina Spanos, Geraldine Dawson Source Type: research
93. Intrinsic Gene Expression Correlates of the Biophysically Modeled Diffusion MRI Signal in Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder reliant on subjective clinical diagnosis, precluding stratification based on neurobiology. Herein, we explored gene expression correlates between rat genetic models of ASD and the intraneuronal (NDI) and extracellular (ODI) signals from neurite orientation dispersion and density imaging (NODDI), an advanced diffusion MRI technique. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Ajay Singh, Michael Fromandi, Daniel Pimentel-Alarc ón, Donna Werling, Audrey Gasch, John-Paul Yu Source Type: research
92. Mechanisms Underlying Agonist-Induced Desensitization of Oxytocin Receptor in Neurons
Oxytocin serves a critical role in the brain as a neuromodulator regulating social and other affective behavior. Disturbance in oxytocin signaling has been implicated in autism spectrum disorder and clinical trials are ongoing to test the efficacy of administered oxytocin in relieving social deficits. However, the signaling and regulatory mechanisms that are evoked following activation of oxytocin receptor (OXTR) in neurons remain largely unexplored. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Kiran George, Hanh Hoang, Taryn Tibbs, Raghavendra Nagaraja, Eva Troyano-Rodriguez, Mohiuddin Ahmad Source Type: research
91. Investigating the Relationship Between Alpha-Band Power and Subcortical Structure Volumes in Autism
Sensory symptoms are a core feature of autism spectrum disorder (ASD). Sensory information is known to be gated by subcortical structures and modulated by cortical signals such as alpha-band oscillations. Here we investigated the potential relationship between volumetric measures of subcortical nuclei and alpha power, and their association with sensory measures. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Daniela L. Seczon, Mark W. Pettet, Hannah M. Rea, Kristin M. Woodard, Tamar Kolodny, Sara J. Webb, Scott O. Murray Source Type: research
90. Social and Joint Attention During Shared Book Reading in Young Autistic Children: A Potential Marker for Social Development and Response to Oxytocin Social Interventions
Atypical patterns of social engagement and joint attention behaviors are diagnostic criteria for autism. Experimental tasks using eye tracking methodologies have, however, shown inconsistent results. The development of tasks with greater ecological validity with relevance for developmentally appropriate social milestones have been identified as important for the field and to be trialed for detecting response in intervention trials. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Kelsie Boulton, Zahava Ambarchi, Rinku Thapa, Joanne Arciuli, Marilena DeMayo, Emma Thomas, Ian Hickie, Adam Guastella Source Type: research
89. Shared Disruptions in Neural Circuits of Eye Gaze Processing in Autism Spectrum Disorder and Schizophrenia
Impairment in social cognition, particularly eye gaze processing, is a shared feature common to autism spectrum disorder (ASD) and schizophrenia. However, it is unclear if a convergent neural mechanism also underlies gaze dysfunction in these conditions. The present study examined whether this shared eye gaze phenotype is reflected in a profile of convergent neurobiological dysfunction in ASD and schizophrenia. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Karim Ibrahim, Iciar Iturmendi-Sabater, Maya Vasishth, Daniel S. Barron, MariaRose Guardavaccaro, Avram Holmes, Gregory McCarthy, Simon B. Eickhoff, Denis G. Sukhodolsky Source Type: research
88. Atypical Resting-State Electroencephalogram Theta-Beta Ratio in Autistic Adults: Preliminary Results
Resting-state electroencephalogram (EEG) theta/beta spectral power ratio (TBR) is a proposed neurophysiological biomarker of cognitive processing in neurodevelopmental and neurodegenerative conditions. Among neurodevelopmental conditions, an elevated resting-state TBR has been associated with attention-deficit hyperactivity disorder (ADHD) with likely prognostic significance. Autism is a common neurodevelopmental condition that frequently co-occurs with ADHD and is associated with atypical cognitive processing. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Shohreh Kariminezhad, Reza Zomorrodi, Stephanie H. Ameis, Hsiang-Yuan Lin, Meng-Chuan Lai, Sanjeev Kumar, Tarek Rajji, Daniel M. Blumberger, Yona Lunsky, Pushpal Desarkar Source Type: research
86. Low Frequency Genetic Variants Orchestrate Genetic Vulnerability for Autism Spectrum Disorders and Schizophrenia in Concert With Rare and Common Variants
We found that a regional excess of genetic variants with minor allele frequencies (MAF) 1% and (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Elemi Breetvelt, Nickie Safarian, Worrawat Engchuan, Brett Trost, Marla Mendes de Aquino, Louise Gallagher, Stephen W. Scherer, Jacob Vorstman Source Type: research
77. A Visualization Tool for High-Dimentional Resting State fMRI Data Using Variational Autoencoder
Deep learning models have been instrumental in extracting low-dimensional latent representations of functional connectivity, addressing the complex nonlinear structure of rs-fMRI. However, interpreting those latent representations remains a challenge. This paper aims to address this gap by creating explainable variational autoencoders (VAE) models and testing their utility using rs-fMRI data in autism spectrum disorder (ASD). (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Xi Zhu, Young-gun Kim, Orren Ravid, Xinyuan Zhang, Yoojean Kim, Yuval Neria, Seonjoo Lee, Xiaofu He Source Type: research
494. Reciprocal 22q10.2 CNV Carriers Exhibit Distinct Autism Symptom Profiles
Identifying links between autism spectrum disorder (ASD)-related behavioral traits and brain function is key in understanding the disorder ’s development. 22q11.2 deletions (22qDel) and duplications (22qDup) are copy number variants (CNVs) associated with significantly increased risk of ASD; studying these individuals offers insight into disease mechanisms. Here, we investigated gene dosage effects on dimensional ASD-relevant traits in reciprocal 22q11.2 CNVs. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Sarah Fatkin, Kathleen O'Hora, Charlie Schleifer, Leila Kushan, Carrie Bearden Source Type: research
Developing a pathway to clinical trials for < em > CACNA1A < /em > -related epilepsies: A patient organization perspective
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.ABSTRACTCACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentati...
Source: Adv Data - April 29, 2024 Category: Epidemiology Authors: Pangkong M Fox Sunitha Malepati Lisa Manaster Elsa Rossignol Jeffrey L Noebels Source Type: research
Exploring the Perspectives of Parents of Individuals with Autism from Low-Resourced Communities to Inform Family Navigator Programs
In this study, we extend the extent literature by exploring the lived experiences of 12 parents of autistic children from low-resourced communities to inform the development of a family navigator program. Findings demonstrated that navigator programs need to prepare navigators to address barriers such as limited knowledge and difficulty accepting an autism diagnosis. Navigator programs should teach navigators to use strategies with families including educating families about services and connecting families with peer support. Program content should reflect direct services, government services, and advocacy strategies. Nota...
Source: Health Physics - April 29, 2024 Category: Physics Authors: Meghan M Burke Amanda N Johnston W Catherine Cheung Chak Li Edwin Mon árrez Janeth Aleman-Tovar Source Type: research
