Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Several genetic causes of ASD have been identified and this has enabled researchers to construct mouse models. Mouse behavioral tests reveal impaired social interaction and communication, as well as increased repetitive behavior and behavioral inflexibility in these mice, which correspond to core behavioral deficits observed in individuals with ASD. However, the connection between these behavioral abnormalities and the underlying dysregulation in neuronal circuits and synaptic function is poorly understood. Moreover, different components of the ASD phenotype may be linked to dysfunction in different brain regions, making it even more challenging to chart the pathophysiological mechanisms involved in ASD. Here we summarize the research on mouse models of ASD and their contribution to understanding pathophysiological mechanisms. Specifically, we emphasize abnormal serotonin production and regulation, as well as the disruption in circadian rhythms and sleep that are observed in a subset of ASD, and propose that spatiotemporal disturbances in brainstem development may be a primary cause of ASD that propagates towards the cerebral cortex.
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http://dx.doi.org/10.1016/j.neubiorev.2019.04.012 | DOI Listing |
Biochemistry
January 2025
Department of Chemistry, University of California, Berkeley, California 94720, United States.
In many bacteria, the location of the mRNA start codon is determined by a short ribosome binding site sequence that base pairs with the 3'-end of 16S rRNA (rRNA) in the 30S subunit. Many groups have changed these short sequences, termed the Shine-Dalgarno (SD) sequence in the mRNA and the anti-Shine-Dalgarno (ASD) sequence in 16S rRNA, to create "orthogonal" ribosomes to enable the synthesis of orthogonal polymers in the presence of the endogenous translation machinery. However, orthogonal ribosomes are prone to SD-independent translation.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Introduction: While cerebral amyloid angiopathy is likely responsible for intracerebral hemorrhage (ICH) occurring in superficial (grey matter, vermis) cerebellar locations, it is unclear whether hypertensive arteriopathy (HA), the other major cerebral small vessel disease (cSVD), is associated with cerebellar ICH (cICH) in deep (white matter, deep nuclei, cerebellar peduncle) regions. We tested the hypothesis that HA-associated neuroimaging markers are significantly associated with deep cICH compared to superficial cICH.
Patients And Methods: Brain MRI scans from consecutive non-traumatic cICH patients admitted to a referral center were analyzed for cSVD markers.
Eur Child Adolesc Psychiatry
January 2025
National Center for Magnetic Resonance in Wuhan, State Key Laboratory of Magnetic Resonance Spectroscopy and Imaging, Wuhan Institute of Physics and Mathematics, Innovation Academy for Precision Measurement Science and Technology, Chinese Academy of Sciences, Wuhan, 430071, China.
Emerging evidence suggests aberrant functional connectivity (FC) of brain networks in children, adolescents, and adults with autism spectrum disorder (ASD). However, little is known about alterations of dynamic FC in toddlers with ASD. The aim of this study was to investigate the characteristics of brain network dynamics in ASD toddlers.
View Article and Find Full Text PDFEur Spine J
January 2025
Department of Orthopaedic Surgery, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
Purpose: This study aimed to compare the incidence of radiological adjacent segment disease (R-ASD) at L3/4 between patients with L4/5 degenerative spondylolisthesis (DS) who underwent L4/5 posterior lumbar interbody fusion (PLIF) and those who underwent microscopic bilateral decompression via a unilateral approach (MBDU) at L4/5. Our ultimate goal was to distinguish the course of natural lumbar degeneration from fusion-related degeneration while eliminating L4/5 decompression as a confounder.
Methods: Ninety patients with L4/5 DS who underwent L4/5 PLIF (n = 53) or MBDU (n = 37) and were followed for at least 5 years were retrospectively analyzed.
Clin Linguist Phon
January 2025
The Third Clinical Medical and Rehabilitation Medical College, Zhejiang Chinese Medical University, Zhejiang, China.
Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder characterised by highly heterogeneous language abilities. These variations necessitate sensitive and comprehensive assessments, with narrative analysis being an effective method. This study aimed to examine the micro- and macrostructural aspects of narratives of Mandarin-speaking children with ASD.
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