Publications by authors named "Maeri Yamamoto"

Article Synopsis
  • The study aimed to explore the genetic basis and pathogenic variants associated with autism spectrum disorder (ASD) by performing whole-genome sequencing on 57 Japanese ASD patients and their parents.
  • Researchers identified potentially pathogenic variants in about 31.6% of the patients, with a higher rate (43.5%) among those with comorbid intellectual developmental disorder (IDD), highlighting specific genes like PTEN and CHD7 linked to recognized ASD phenotypes.
  • The findings emphasize the importance of understanding the genetic underpinnings of ASD to aid in clinical diagnosis and treatment, though no significant results were found regarding short tandem repeats or polygenic risk scores.
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Article Synopsis
  • - The study investigates the link between rare copy number variations (CNVs) in synaptic genes and bipolar disorder (BD) in a Japanese population, using genome hybridization techniques on nearly 2,000 BD patients and 2,760 controls.
  • - Results indicate a strong association between the RNF216 gene and BD, with significant findings also related to postsynaptic membrane components, suggesting these genetic factors contribute to BD risk.
  • - The findings enhance understanding of BD's genetic underpinnings, highlighting the importance of CNVs in gene regions that may influence the disorder's development.
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Aim: Depressive disorder is often evaluated using established rating scales. However, consistent data collection with these scales requires trained professionals. In the present study, the "rater & estimation-system" reliability was assessed between consensus evaluation by trained psychiatrists and the estimation by 2 models of the AI-MADRS (Montgomery-Asberg Depression Rating Scale) estimation system, a machine learning algorithm-based model developed to assess the severity of depression.

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Aim: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case-control sample.

Method: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD.

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According to the operational diagnostic criteria, psychiatric disorders such as schizophrenia (SZ), bipolar disorder (BD), major depressive disorder (MDD), and autism spectrum disorder (ASD) are classified based on symptoms. While its cluster of symptoms defines each of these psychiatric disorders, there is also an overlap in symptoms between the disorders. We hypothesized that there are also similarities and differences in cortical structural neuroimaging features among these psychiatric disorders.

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Differential diagnosis is sometimes difficult in practical psychiatric settings, in terms of using the current diagnostic system based on presenting symptoms and signs. The creation of a novel diagnostic system using objective biomarkers is expected to take place. Neuroimaging studies and others reported that subcortical brain structures are the hubs for various psycho-behavioral functions, while there are so far no neuroimaging data-driven clinical criteria overcoming limitations of the current diagnostic system, which would reflect cognitive/social functioning.

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Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention, motor hyperactivity, impulsivity, and psychosocial as well as cognitive dysfunction. Although characteristic clinical manifestations have been described, no definitive biomarkers to diagnose ADHD have been established. In this review article, we summarize positron emission tomography (PET) studies conducted in adult patients with ADHD.

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Background: Schizophrenia is considered a brain connectivity disorder in which functional integration within the brain fails. Central to the brain's integrative function are connector hubs, brain regions characterized by strong connections with multiple networks. Given their critical role in functional integration, we hypothesized that connector hubs, including those located in the cerebellum and subcortical regions, are severely impaired in patients with schizophrenia.

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Article Synopsis
  • The study investigates the differences and similarities in copy number variations (CNVs) related to bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD) using data from 8708 Japanese individuals.
  • It reveals that BD has a greater burden of smaller exonic deletions, while SCZ and ASD show a prevalence of larger exonic CNVs, with notable differences in the effect sizes and distributions of these CNVs across disorders.
  • Despite these differences, some shared molecular mechanisms, particularly in chromatin biology, were identified, and certain synaptic genes were linked to BD risk, suggesting potential pathways for further research into its causes.
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Background: Cognitive impairment is common in people with mental disorders, leading to transdiagnostic classification based on cognitive characteristics. However, few studies have used this approach for intellectual abilities and functional outcomes.

Aims: The present study aimed to classify people with mental disorders based on intellectual abilities and functional outcomes in a data-driven manner.

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Structural brain alterations have been repeatedly reported in schizophrenia; however, the pathophysiology of its alterations remains unclear. Multivariate pattern recognition analysis such as support vector machines can classify patients and healthy controls by detecting subtle and spatially distributed patterns of structural alterations. We aimed to use a support vector machine to distinguish patients with schizophrenia from control participants on the basis of structural magnetic resonance imaging data and delineate the patterns of structural alterations that significantly contributed to the classification performance.

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Schizophrenia (SCZ) is known to be a heritable disorder; however, its multifactorial nature has significantly hampered attempts to establish its pathogenesis. Therefore, in this study, we performed genome-wide copy-number variation (CNV) analysis of 2940 patients with SCZ and 2402 control subjects and identified a statistically significant association between SCZ and exonic CNVs in the ARHGAP10 gene. ARHGAP10 encodes a member of the RhoGAP superfamily of proteins that is involved in small GTPase signaling.

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Identifying both the commonalities and differences in brain structures among psychiatric disorders is important for understanding the pathophysiology. Recently, the ENIGMA-Schizophrenia DTI Working Group performed a large-scale meta-analysis and reported widespread white matter microstructural alterations in schizophrenia; however, no similar cross-disorder study has been carried out to date. Here, we conducted mega-analyses comparing white matter microstructural differences between healthy comparison subjects (HCS; N = 1506) and patients with schizophrenia (N = 696), bipolar disorder (N = 211), autism spectrum disorder (N = 126), or major depressive disorder (N = 398; total N = 2937 from 12 sites).

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Discrepancies in efficacy between single-dose and repeated administration of oxytocin for autism spectrum disorder have led researchers to hypothesize that time-course changes in efficacy are induced by repeated administrations of the peptide hormone. However, repeatable, objective, and quantitative measurement of autism spectrum disorder's core symptoms are lacking, making it difficult to examine potential time-course changes in efficacy. We tested this hypothesis using repeatable, objective, and quantitative measurement of the core symptoms of autism spectrum disorder.

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Studies of eye movement have become an essential tool of basic neuroscience research. Measures of eye movement have been applied to higher brain functions such as cognition, social behavior, and higher-level decision-making. With the development of eye trackers, a growing body of research has described eye movements in relation to mental disorders, reporting that the basic oculomotor properties of patients with mental disorders differ from those of healthy controls.

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Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls.

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Reelin protein (RELN), an extracellular matrix protein, plays multiple roles that range from embryonic neuronal migration to spine formation in the adult brain. Results from genetic studies have suggested that RELN is associated with the risk of psychiatric disorders, including schizophrenia (SCZ). We previously identified a novel exonic deletion of RELN in a patient with SCZ.

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Resting-state (rs) functional magnetic resonance imaging (fMRI) studies have revealed dysfunctional thalamocortical functional connectivity (FC) in schizophrenia. However, the relationship between thalamocortical FC and cognitive impairment has not been thoroughly investigated. We hypothesized that aberrant thalamocortical FC is related to attention deficits in schizophrenia.

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Although small-scale studies have described the effects of oxytocin on social deficits in autism spectrum disorder (ASD), no large-scale study has been conducted. In this randomized, parallel-group, multicenter, placebo-controlled, double-blind trial in Japan, 106 ASD individuals (18-48 y.o.

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Article Synopsis
  • The study analyzed the impact of illness duration and antipsychotic medication on brain structure volumes in individuals with schizophrenia, using data from 778 subjects in a large-scale meta-analysis.
  • Results showed that the daily dose of antipsychotics positively influenced the volume of the left globus pallidus, while it negatively affected the right hippocampus.
  • The research emphasizes that antipsychotic medication can influence subcortical brain volumes, highlighting the need for deeper discussions on its relationship with schizophrenia's pathophysiology.
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Introduction: Response conflict involves selectively attending to relevant information and suppressing distracting, irrelevant information. The medial frontal cortex (MFC) is considered to be involved in response conflict. However, it remains unclear which white matter connectivity is associated with response conflict.

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Rationale: Hypnotics are widely used to treat insomnia but adverse effects of different hypnotics, especially benzodiazepine receptor agonists, are getting more attention lately. The effects of novel hypnotics have not been fully examined.

Objective: This study aims to assess the effects of two hypnotics, ramelteon and triazolam, on driving performance, cognitive function, and equilibrium function.

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Objective: This study aimed to assess whether a lower initial dose of mirtazapine can lessen the harmful effect on driving performance or not in a double-blinded, placebo-controlled crossover trial.

Methods: Thirteen healthy men received 8 days of continuous nocturnal doses of mirtazapine at 7.5 mg or 15 mg, or placebo.

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Objective: This study aimed to evaluate the effects of repeated treatments with the sedative antidepressants mirtazapine and trazodone on driving performance and cognitive function.

Methods: Nineteen healthy men received continuous nocturnal doses of 15-mg mirtazapine , 25-mg trazodone, or placebo for 8 days in a double-blinded, three-way crossover trial. Subjects were asked to perform three driving tasks (road tracking, car following, and harsh braking) using a driving simulator and cognitive tasks (the Wisconsin Card Sorting Test, Continuous Performance Test, and N-back Test) at baseline and on Days 2 and 9.

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