☆ 4.6 Review

Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022

GENES (2022)

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Article Psychology, Developmental

Shining a Light on a Hidden Population: Social Functioning and Mental Health in Women Reporting Autistic Traits But Lacking Diagnosis

Hannah L. Belcher et al.

Summary: Female Phenotype Theory suggests that autistic women often have less obvious social impairments. Two nationwide online surveys compared self-reported social functioning and mental health between diagnosed autistic women and undiagnosed but probably autistic women. The findings showed that probably autistic women had higher empathy and general social functioning, and were more likely to be diagnosed with Borderline Personality Disorder. Autistic women had received more mental health diagnoses prior to their ASC diagnosis than autistic men.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2023)

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Article Psychology, Developmental

Understanding the Contributions of Trait Autism and Anxiety to Extreme Demand Avoidance in the Adult General Population

Rhianna White et al.

Summary: This study found that both autistic traits and anxiety were equally important predictors of demand avoidance, suggesting a link between extreme demand avoidance and autism, and supporting the theory that demand avoidance behaviors may be anxiety-driven in adults.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2023)

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Review Psychology, Developmental

Autism Spectrum Disorder and Gender Dysphoria/Incongruence. A systematic Literature Review and Meta-Analysis

Aimilia Kallitsounaki et al.

Summary: This study revealed a significant relationship between autism spectrum disorder (ASD) and gender dysphoria/incongruence (GD/GI). The prevalence of ASD diagnoses in GD/GI individuals was found to be 11%, while there was a significant difference in ASD traits between GD/GI individuals and control individuals.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2023)

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Article Psychology, Developmental

Autism Through the Ages: A Mixed Methods Approach to Understanding How Age and Age of Diagnosis Affect Quality of Life

Gray Atherton et al.

Summary: Many autistic adults are diagnosed later in life, affecting their mental health. Research shows lower quality of life and higher autistic traits in autistic adults, with a need for specialized support despite empowerment from diagnosis.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2022)

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Article Genetics & Heredity

Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

Beatrice De Maria et al.

Summary: The CHD2 gene encodes a crucial enzyme associated with various early onset phenotypes, including epilepsy and neurodevelopmental disorders. Studies have shown a wide range of CHD2 pathogenic variants in patients, leading to diverse phenotypes such as developmental delay, intellectual disability, and epilepsy.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

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Review Behavioral Sciences

Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates

Gabriella E. DiCarlo et al.

Summary: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and restricted interests/repetitive behaviors. Over 1000 genes and 2000 copy number variants have been implicated in ASD. It is believed that there is not a single genetic cause or neurobiological basis for ASD, but rather multiple subtypes with different genetic and neurobiological perturbations. Dopamine dysfunction may be one potential subtype associated with ASD. This research provides a framework for subcategorizing ASD based on genetic changes, neurobiological differences, and behavioral features.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2022)

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Article Environmental Sciences

The Diagnosis and Management of Autism Spectrum Disorder (ASD) in Adult Females in the Presence or Absence of an Intellectual Disability

Tanzil Rujeedawa et al.

Summary: This article reviews the reasons for the higher proportion of males diagnosed with autism spectrum disorder in the non-intellectually disabled population and compares it to autism diagnosed in intellectually disabled individuals. Accurate and timely diagnosis is crucial for reducing health inequalities. Females often receive a diagnosis later. The differences lie in core features such as social interaction and repetitive behaviors, which are less noticeable in females and can be explained by biological differences and/or differences in presentation between the two sexes. Females are more likely to present with internalizing co-occurring conditions. The article also reviews methods to potentially improve diagnosis in females and current and future management strategies.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2022)

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Review Clinical Neurology

Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery

Elisa Cali et al.

Summary: SNAREs are a heterogeneous family of proteins involved in synaptic vesicle exocytosis and transmission, with mutations in associated genes leading to a spectrum of neurological conditions known as SNAREopathies. These conditions range from simple febrile seizures to severe early-onset epileptic encephalopathies. Research focuses on the core SNARE proteins and related regulators in delineating epileptic phenotypes.

FRONTIERS IN NEUROLOGY (2022)

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Review Psychiatry

Influence of Prenatal Drug Exposure, Maternal Inflammation, and Parental Aging on the Development of Autism Spectrum Disorder

Atsushi Sato et al.

Summary: Autism spectrum disorder (ASD) affects social interaction and behavior. The causes of ASD include genetic alterations and environmental risks. Environmental risks include medication exposure, maternal complications during pregnancy, and advanced parental age. Evidence suggests that exposure to valproic acid (VPA) and maternal inflammation are related to the development of ASD. The mechanisms by which environmental factors contribute to ASD are not fully understood.

FRONTIERS IN PSYCHIATRY (2022)

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Review Behavioral Sciences

Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future

Jill L. Silverman et al.

Summary: Neurodevelopmental disorders (NDDs) are prevalent and lifelong disorders without evidence-based interventions. Optimal utilization of preclinical animal models is crucial. A workshop in the field of behavioral neuroscience reviewed current studies and proposed solutions, including re-evaluating animal model links to NDDs.

GENES BRAIN AND BEHAVIOR (2022)

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Review Neurosciences

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

Helen Rankin Willsey et al.

Summary: This article explores the genes associated with autism spectrum disorder (ASD) and discusses the use of convergent neuroscience approaches to understand the pathobiology of ASD.

NATURE REVIEWS NEUROSCIENCE (2022)

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Review Psychiatry

Sex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features

Antonio Napolitano et al.

Summary: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a prevalence of about 1%, characterized by impairments in social interaction, communication, repetitive behaviors, and sensory reactivity. It is more common in males and can be associated with anxiety, depression, hyperactivity, and attention problems.

FRONTIERS IN PSYCHIATRY (2022)

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Article Psychology, Clinical

Fostering socio-emotional competencies in children on the autism spectrum using a parent-assisted serious game: A multicenter randomized controlled trial

Simone Kirst et al.

Summary: Serious games are a promising means of fostering socio-emotional skills in children on the autism spectrum. This study found that a six-week training with a parent-assisted serious game had moderate effects on emotional awareness, emotion regulation, and autism social symptomatology. However, it failed to induce lasting changes in empathy and emotion recognition.

BEHAVIOUR RESEARCH AND THERAPY (2022)

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Article Neurosciences

Accounting for motion in resting-state fMRI: What part of the spectrum are we characterizing in autism spectrum disorder?

Mary Beth Nebel et al.

Summary: Excluding high-motion participants can reduce the impact of motion in fMRI data, but it may introduce biases in the sample. This study aims to document the biases introduced by motion exclusion practices and propose a framework to address these biases. The results show that excluding high-motion autistic children leads to a sample with older age and less severe clinical profiles, and these children also exhibit differences in functional connectivity strength.

NEUROIMAGE (2022)

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Article Multidisciplinary Sciences

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Ralda Nehme et al.

Summary: The mechanism by which the 22q11.2 deletion predisposes to psychiatric disease is not well understood. In this study, the authors investigated human neuronal cells and found that the deletion regulates the expression of genes associated with autism, schizophrenia, and synaptic biology. Using induced pluripotent stem cells and CRISPR/Cas9 technology, the researchers found that the deletion alters the abundance of transcripts associated with neurodevelopmental disorders during differentiation into neural progenitor cells. Furthermore, the altered transcripts in excitatory neurons were found to encode presynaptic factors and were associated with genetic risk for schizophrenia.

NATURE COMMUNICATIONS (2022)

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Review Immunology

Role of Gut Microbiome in Autism Spectrum Disorder and Its Therapeutic Regulation

Masuma Afrin Taniya et al.

Summary: Autism spectrum disorder (ASD) is a neurological disorder that affects brain development. The recent discovery of the microbiota-gut-brain axis reveals the connection between gut microbiota and neurological disorders such as autism. Factors like early colonization, mode of delivery, and antibiotic usage significantly impact the gut microbiome and the onset of autism. The fermentation of plant-based fiber produces short-chain fatty acids (SCFA) that can have either positive or negative effects on the gut and neurological development of autistic patients. Comprehensive studies on the gut microbiome and microbiota-gut-brain axis aid in understanding the mechanisms underlying neurological disorders and identifying potential treatments for autism.

FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY (2022)

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Review Psychiatry

Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

Shuang Qiu et al.

Summary: This article presents an umbrella review of genetic studies on autism spectrum disorder (ASD) and provides a comprehensive overview of the risk genes associated with ASD. The study identifies significant single nucleotide polymorphisms (SNPs) in genes such as CNTNAP2, MTHFR, OXTR, SLC25A12, and VDR that may confer ASD risks. The findings offer evidence-based information for clinicians and healthcare decision-makers, guiding future treatment, prevention, and research.

TRANSLATIONAL PSYCHIATRY (2022)

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Review Neurosciences

mTOR-Dependent Spine Dynamics in Autism

Shabani Chaudry et al.

Summary: Autism Spectrum Conditions (ASC) are neurodevelopmental disorders characterized by deficits in social communication and interaction, as well as repetitive behaviors and restricted range of interests. This review explores the relevance of changes in dendritic spines in ASC using data gathered from rodent models. It identifies 20 genes linked to dendritic spine pruning or development in rodents that are also strongly implicated in ASC in humans, and proposes the mTOR pathway regulating spine dynamics as a potential mechanism underlying the ASC signaling pathway. Additionally, it suggests that aberrant spine dynamics resulting from mutations in these genes may contribute to the altered social behavior observed in rodent models of ASC.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2022)

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Review Biochemistry & Molecular Biology

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

Chen-Chen Jiang et al.

Summary: Autism spectrum disorder (ASD) is a common and complex neurodevelopmental disorder with a strong genetic basis. Despite the limited understanding of its etiology, risk factors, and disease progression, significant progress has been made in genetics, identifying hundreds of genes associated with a high risk for autism. The involvement of signal transduction molecular events in pathological processes has important implications for precise molecular targeting in autism. This review provides insights into the mechanisms and clinical implications of signal transduction in autism, as well as future challenges and perspectives.

SIGNAL TRANSDUCTION AND TARGETED THERAPY (2022)

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Review Psychology, Multidisciplinary

From the Cradle to the Web: The Growth of Sharenting-A Scientometric Perspective

Ilaria Cataldo et al.

Summary: Sharenting is a popular trend in which parents share detailed information and content about their children on social media. This research analyzes existing literature to understand the implications of sharenting, uncover gaps in the research, and suggests future directions such as investigating the psychological mechanisms behind sharenting behaviors.

HUMAN BEHAVIOR AND EMERGING TECHNOLOGIES (2022)

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Article Biochemistry & Molecular Biology

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

K. Griesi-Oliveira et al.

Summary: Evaluation of expression profile in ASD patients using iPSC-derived neuronal models revealed dysregulated gene modules related to protein synthesis, synapse/neurotransmission, and translation. The comparison of findings showed that the synapse-related module is consistently upregulated in iPSC-derived neurons-more similar to fetal brain, while downregulated in postmortem brain tissue, indicating a reliable association to ASD and suggesting developmental dysregulation in ASD individuals. This network's expression pattern could potentially serve as a biomarker for ASD and a therapeutic target.

MOLECULAR PSYCHIATRY (2021)

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Review Psychology, Multidisciplinary

Interpersonal Synchrony in the Context of Caregiver-Child Interactions: A Document Co-citation Analysis

Alessandro Carollo et al.

Summary: The study utilized a scientometric approach to examine synchrony, coordination, and attunement in social processes, identifying major clusters of interest in studying attunement at various levels of analysis. New hyperscanning paradigms offer opportunities for researchers to explore the role of biobehavioral synchrony in social processes. Future potential pathways of research in this area were also discussed.

FRONTIERS IN PSYCHOLOGY (2021)

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Article Neurosciences

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant

Nicole A. Hawkins et al.

Summary: Developmental and epileptic encephalopathies (DEE) are severe epilepsies with intractable seizures and developmental delay. Mutations in KCNB1 may disrupt the distribution of the K(V)2.1 channel at endoplasmic reticulum-plasma membrane junctions, leading to epilepsy and neurobehavioral abnormalities in a mouse model.

NEUROBIOLOGY OF DISEASE (2021)

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Review Clinical Neurology

Endocrine Insights into the Pathophysiology of Autism Spectrum Disorder

Hayley A. Wilson et al.

Summary: Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders that affects males more frequently than females. Genetic and environmental risk factors may contribute to its development, with hormones like gonadal, thyroid, and glucocorticoids potentially playing a role. Environmental factors may influence ASD etiology by affecting neuroendocrine and neuroimmune system development, with the placenta likely serving as a key mediator of these effects on the developing brain, particularly in males. Understanding how various risk factors interact to impact neural development could lead to a better understanding of the causes of ASD.

NEUROSCIENTIST (2021)

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Article Neurosciences

Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum

Zhiyu Yang et al.

Summary: The study investigates the shared genetic basis across TS, ADHD, ASD, and OCD, revealing a common unifying factor connecting TS, ADHD, and ASD, while showing the highest genetic correlation between TS and OCD. Through a systematic meta-analysis, multiple novel hits and regions have been identified, indicating pleiotropic roles for specific disorders analyzed here. The study underlines the importance of redefining the framework for research across traditional diagnostic categories.

BIOLOGICAL PSYCHIATRY (2021)

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Article Neurosciences

High spatial frequency filtered primes hastens happy faces categorization in autistic adults

Adeline Lacroix et al.

BRAIN AND COGNITION (2021)

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Review Biochemistry & Molecular Biology

The Gut-Brain Axis in Autism Spectrum Disorder: A Focus on the Metalloproteases ADAM10 and ADAM17

Yuanpeng Zheng et al.

Summary: Autism Spectrum Disorder (ASD) is characterized by social interaction problems and repetitive behavior, possibly arising from changes in brain development. Individuals with ASD may also experience intestinal issues. Metalloproteases ADAM10 and ADAM17 play significant roles in ASD pathogenesis and gut inflammation.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Genetics & Heredity

Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk

Christopher Y. Park et al.

Summary: The research revealed the crucial role of RNA-binding proteins (RBPs) in psychiatric disorder risk, with the pathogenic contribution of noncoding variants impacting RBP target sites being a key factor. RBP dysregulation explains a significant amount of heritability not captured by large-scale studies and has a stronger impact.

NATURE GENETICS (2021)

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Review Neurosciences

Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders

Tanya Gandhi et al.

Summary: Autism spectrum disorder (ASD) is characterized by alterations in social interaction, communication, and repetitive behaviors. Rodent models exhibiting ASD-like phenotypes are useful for studying neural mechanisms and therapeutic strategies for repetitive behaviors in ASD and related neuropsychiatric disorders. Understanding the mechanisms and circuit alterations in rodent models can inform translational research in this area.

FRONTIERS IN CELLULAR NEUROSCIENCE (2021)

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Article Gastroenterology & Hepatology

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines

Zhi Liu et al.

Summary: The study systematically explored the interplay between host genetic variation and gut microbiota in ASD children, finding that ASD SNVs were significantly enriched in specific genes and correlated with microbial composition and metabolism. The abundance of metabolites involved in the metabolic network of neurotransmitters was inferred to be causally related to specific SNVs and microbes, suggesting a crucial role of host genetics and gut microbes in immune and metabolism homeostasis in ASD.

GUT MICROBES (2021)

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Review Health Care Sciences & Services

Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift

Cristina Panisi et al.

Summary: The passage discusses the challenges posed by the wide spectrum of unique needs and strengths of Autism Spectrum Disorders (ASD) to the global healthcare system, emphasizing the importance of early intervention and control of the main effector molecular pathways for effective prevention of ASD.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Review Behavioral Sciences

The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders

Rana Fetit et al.

Summary: Post-mortem studies of individuals with autism have revealed consistent abnormalities in brain tissue, such as reduced minicolumn numbers and aberrant myelination. Transcriptomics consistently implicate abnormalities in synaptic, metabolic, proliferation, apoptosis, and immune pathways in autism pathogenesis. Larger studies are needed to further investigate these findings and potential treatments.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2021)

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Review Clinical Neurology

A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders

C. M. Diaz-Caneja et al.

Summary: In the field of neurodevelopmental disorders, multidisciplinary translational consortia developing basic and clinical research concurrently, especially incorporating a developmental perspective into the drug development process, may help overcome current challenges in identifying and testing new treatments.

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2021)

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Article Genetics & Heredity

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford et al.

Summary: Pathogenic variants in SCN2A lead to a range of neurodevelopmental phenotypes. By extracting and analyzing phenotypic data from literature using Human Phenotype Ontology terms, this study identified key associations between genetic variants, clinical features, and protein structure in SCN2A-related disorders. The findings highlight the importance of standardized language in enabling quantitative phenotype analysis and mapping the phenotypic landscape in detail to reveal genotype-phenotype correlations.

GENETICS IN MEDICINE (2021)

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Review Psychiatry

Surveying 80 Years of Psychodrama Research: A Scientometric Review

Mengyu Lim et al.

Summary: Research in psychodrama has flourished in various sub-fields, with increasing adoption of technology and integration with other psychotherapies. To improve research quality, greater transparency in reporting materials and data is recommended. Future research trends may involve more use of new technological methods, such as neuroimaging.

FRONTIERS IN PSYCHIATRY (2021)

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Article Genetics & Heredity

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Niamh Mullins et al.

Summary: A genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry revealed 64 associated genomic loci, enriched in genes related to synaptic signaling pathways and brain-expressed genes. The study also identified potential therapeutic leads and drug targets, highlighting the complex genetic correlations between bipolar disorder subtypes and providing insights into the disorder's etiology.

NATURE GENETICS (2021)

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Review Neurosciences

A Scientometric Approach to Review the Role of the Medial Preoptic Area (MPOA) in Parental Behavior

Alessandro Carollo et al.

Summary: Research on the neural substrates of parental behavior, particularly focusing on the hypothalamic medial preoptic area (MPOA), has gained momentum. A scientometric analysis of publications from 1972 to 2021 revealed a trend of initially studying MPOA's response to parental behavior and later exploring the brain network regulating such behavior, including reward circuits. The focus has expanded from maternal behavior to understanding paternal behaviors as well.

BRAIN SCIENCES (2021)

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Article Clinical Neurology

Drug development for Autism Spectrum Disorder (ASD): Progress, challenges, and future directions

James T. McCracken et al.

Summary: The ASD Working Group was established to address the lack of progress in targeted drug development for ASD and related neurodevelopmental disorders, identifying barriers and recommending research strategies. Challenges include heterogeneity, lack of biomarkers, and the need for improved endpoints, with recommendations focusing on overcoming these obstacles to advance translational clinical ASD therapeutic research.

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2021)

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Review Biochemistry & Molecular Biology

Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment

Katherine W. Eyring et al.

Summary: Recent methodological advances have significantly transformed our understanding of the genetic origins of neuropsychiatric disorders. Studies on autism spectrum disorders have identified over a hundred causal loci, highlighting a substantial role for polygenic inherited risk factors. Approaches rooted in systems biology and functional genomics have helped to place risk genes into biological context, particularly focusing on early stages of brain development.

HUMAN MOLECULAR GENETICS (2021)

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Article Biochemistry & Molecular Biology

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

Jorge Urresti et al.

Summary: Reciprocal deletion and duplication of the 16p11.2 region are associated with autism spectrum disorders and impact neurodevelopmental processes. CNV dosage affects neuronal maturation, proliferation, and the ratio of neurons to neural progenitors in organoids. Dysregulation of multiple pathways, including neuron migration and actin cytoskeleton, is observed in 16p11.2 CNV, with increased levels of active RhoA implicated in migration deficits.

MOLECULAR PSYCHIATRY (2021)

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Article Neurosciences

Genetic underpinnings of sociability in the general population

Janita Bralten et al.

Summary: Levels of sociability are continuously distributed in the general population, with decreased sociability possibly indicating early signs of various brain disorders. The sociability score was found to be heritable and negatively correlated with autism spectrum disorders, depression, and schizophrenia.

NEUROPSYCHOPHARMACOLOGY (2021)

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Article Multidisciplinary Sciences

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Job O. de Jong et al.

Summary: Mutations in CNTNAP2 have been linked to a specific form of Autism Spectrum Disorder. Using forebrain organoids derived from induced pluripotent stem cells of patients with this mutation, the study found that the increased volume and cell number were driven by abnormal cellular proliferation and neurogenesis, offering insights into potential therapeutic strategies for ASD.

NATURE COMMUNICATIONS (2021)

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Article Genetics & Heredity

Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis

Nora Strom et al.

Summary: The study found a high genetic correlation between obsessive-compulsive disorder (OCD) and other psychiatric disorders, with comorbidities such as major depressive disorder, attention-deficit hyperactivity disorder, and autism spectrum disorder showing significant genetic overlap. Polygenic risk scores (PRS) of various traits were associated with OCD across all subgroups, indicating both quantitative and qualitative polygenic heterogeneity among OCD comorbid subgroups.

FRONTIERS IN GENETICS (2021)

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Review Clinical Neurology

Efficacy and tolerability of antiseizure drugs

Tahir Hakami

Summary: Drug-resistant epilepsy affects 25-30% of patients, with 30-40% of individuals failing treatment with first-generation antiseizure drugs due to intolerable adverse effects. In recent years, 20 newer-generation ASDs have been introduced, expanding treatment options for epilepsy. Research has focused on defining the optimal ASD for different seizure types.

THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS (2021)

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Review Neurosciences

Neuropharmacology of Antiseizure Drugs

Tahir Hakami

Summary: The choice of antiseizure drugs depends on the type of seizures. Practical guidelines have been published for selecting ASDs in patients with new-onset and drug-resistant epilepsy. Newer-generation drugs are better tolerated but have similar efficacy compared with older drugs.

NEUROPSYCHOPHARMACOLOGY REPORTS (2021)

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Review Clinical Neurology

SCN8A Encephalopathy: Case Report and Literature Review

Hueng-Chuen Fan et al.

Summary: Epileptic encephalopathy is a disease caused by extreme forms of intractable childhood epilepsy, which can result in severe delays in cognitive, sensory, and motor function development and be life-threatening in some cases. Genetic sequencing should be considered to identify the underlying genetic causes of the disease.

NEUROLOGY INTERNATIONAL (2021)

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Review Cell Biology

Applications of brain organoids in neurodevelopment and neurological diseases

Nan Sun et al.

Summary: Brain organoids derived from human stem cells can mimic the structure and function of the human brain. They have the potential to model early brain development and various brain disorders. Combining immune-staining and single-cell sequencing technologies can enhance our understanding of brain organoids.

JOURNAL OF BIOMEDICAL SCIENCE (2021)

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Article Clinical Neurology

Antiepileptogenesis and disease modification: Progress, challenges, and the path forward-Report of the Preclinical Working Group of the 2018 NINDS-sponsored antiepileptogenesis and disease modification workshop

Aristea S. Galanopoulou et al.

Summary: Epilepsy is a common chronic brain disease with the need for therapies to prevent, ameliorate, or cure the condition and its comorbidities being a priority. A workshop in 2018 discussed accelerating the development of new therapies for epilepsy, bringing together experts to propose a roadmap for antiepileptogenic and disease-modifying treatments. Discussions focused on preclinical research initiatives, infrastructure improvements, and challenges in epilepsy research to optimize translation to clinical trials.

EPILEPSIA OPEN (2021)

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Article Clinical Neurology

Developmental and epileptic encephalopathies: recognition and approaches to care

Sharika Raga et al.

Summary: DEE encompasses cognitive functions affected by both seizures and interictal epileptiform activity, requiring precision therapies tailored to individual needs. DE and EE categorize different diseases with distinct cognitive states, with DE requiring attention to other treatment aspects and EE needing aggressive intervention to help patients revert to normal cognitive states.

EPILEPTIC DISORDERS (2021)

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Article Genetics & Heredity

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger et al.

Summary: NEXMIF encephalopathy is characterized by intellectual disability, epilepsy, with males having more severe developmental impairment and females being more prone to epilepsy. Pathogenic variants in NEXMIF result in loss-of-function, with most cases being de novo but some showing X-linked segregation.

GENETICS IN MEDICINE (2021)

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Article Psychology, Developmental

Sensory Processing in the Autism Spectrum: The Role of Attention to Detail and Somatic Trait Anxiety in the Olfactory Perception of the General Population

Filipa Barros et al.

Summary: The study found that women and participants with higher scores on the Attention to Detail subscale of AQ showed better odor discrimination abilities, while higher somatic TANX scores were associated with poorer odor discrimination abilities.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2021)

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Review Education & Educational Research

Exploring the frontiers of eye tracking research in language studies: a novel co-citation scientometric review

Vahid Aryadoust et al.

Summary: Eye tracking technology has become popular in language studies, as shown in a scientometric analysis of 341 research publications and 14,866 references from 1994 to 2018. Major research clusters, their key topics, connections, and citation surges were identified through document co-citation analysis, shedding light on the development of eye tracking research in language studies.

COMPUTER ASSISTED LANGUAGE LEARNING (2021)

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Article Biochemistry & Molecular Biology

Sex-specific impact of prenatal androgens on social brain default mode subsystems

Michael Lombardo et al.

MOLECULAR PSYCHIATRY (2020)

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Review Anatomy & Morphology

Modeling genetic epilepsies in a dish

Wei Niu et al.

DEVELOPMENTAL DYNAMICS (2020)

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Review Anatomy & Morphology

Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids: An outlook into future diagnostics and drug development

Guang Yang et al.

DEVELOPMENTAL DYNAMICS (2020)

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Article Behavioral Sciences

Characterizing vulnerable brain areas and circuits in mouse models of autism: Towards understanding pathogenesis and new therapeutic approaches

Kelvin Hui et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2020)

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Article Clinical Neurology

Evidence-based support for autistic people across the lifespan: maximising potential, minimising barriers, and optimising the person-environment fit

Meng-Chuan Lai et al.

LANCET NEUROLOGY (2020)

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Review Behavioral Sciences

What we can learn from a genetic rodent model about autism

Dorit Mohrle et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2020)

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Review Neurosciences

Toward Neurosubtypes in Autism

Seok-Jun Hong et al.

BIOLOGICAL PSYCHIATRY (2020)

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Review Cell Biology

Zebrafish as a tool to study schizophrenia-associated copy number variants

Philip D. Campbell et al.

DISEASE MODELS & MECHANISMS (2020)

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Article Medicine, General & Internal

Autism spectrum disorder

Catherine Lord et al.

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

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16P11.2 Copy Number Variations and Neurodevelopmental Disorders

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Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts

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Rational use of mesenchymal stem cells in the treatment of autism spectrum disorders

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The Gut-Immune-Brain Axis in Autism Spectrum Disorders; A Focus on Amino Acids

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Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice

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Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma

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Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

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Shank3 Exons 14-16 Deletion in Glutamatergic Neurons Leads to Social and Repetitive Behavioral Deficits Associated With Increased Cortical Layer 2/3 Neuronal Excitability

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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

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Increased Excitation-Inhibition Ratio Stabilizes Synapse and Circuit Excitability in Four Autism Mouse Models

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Prenatal vaiproate in rodents as a tool to understand the neural underpinnings of social dysfunctions in autism spectrum disorder

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Expressive Dominant Versus Receptive Dominant Language Patterns in Young Children: Findings from the Study to Explore Early Development

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Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder

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Psychiatry in a Dish: Stem Cells and Brain Organoids Modeling Autism Spectrum Disorders

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Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders

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Genome-Wide Changes in Protein Translation Efficiency Are Associated with Autism

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Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice

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Major Vault Protein, a Candidate Gene in 16p11.2 Microdeletion Syndrome, Is Required for the Homeostatic Regulation of Visual Cortical Plasticity

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Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review

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Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism

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SHANK genes in autism: Defining therapeutic targets

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Synaptopathology in autism spectrum disorders: Complex effects of synaptic genes on neural circuits

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Dendritic spine actin cytoskeleton in autism spectrum disorder

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JAMA PSYCHIATRY (2018)

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Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders

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A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder

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Common Defects of Spine Dynamics and Circuit Function in Neurodevelopmental Disorders: A Systematic Review of Findings From in Vivo Optical Imaging of Mouse Models

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FRONTIERS IN NEUROSCIENCE (2018)

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Review Clinical Neurology

Uncovering True Cellular Phenotypes: Using induced Pluripotent Stem Cell-Derived Neurons to Study early insults in Neurodevelopmental Disorders

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Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder

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APPLIED HEALTH ECONOMICS AND HEALTH POLICY (2018)

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Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective

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BEHAVIOURAL BRAIN RESEARCH (2018)

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Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

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De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis

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Review Biochemistry & Molecular Biology

Childhood-Onset Schizophrenia: Insights from Induced Pluripotent Stem Cells

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Brain Connectivity and Neuroimaging of Social Networks in Autism

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GABA Neuronal Deletion of Shank3 Exons 14-16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

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Synaptopathology Involved in Autism Spectrum Disorder

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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

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SHANK proteins: roles at the synapse and in autism spectrum disorder

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Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

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Science Mapping: A Systematic Review of the Literature

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Autism spectrum disorder: Presentation and prevalence in a nationally representative Australian sample

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From Mendel to epigenetics: History of genetics

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Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder

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Immune mediators in the brain and peripheral tissues in autism spectrum disorder

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Gastrointestinal microbiota in children with autism in Slovakia

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ILAE Official Report: A practical clinical definition of epilepsy

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CNVs conferring risk of autism or schizophrenia affect cognition in controls

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Synaptic, transcriptional and chromatin genes disrupted in autism

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Biological insights from 108 schizophrenia-associated genetic loci

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Copy-number variation in the pathogenesis of autism spectrum disorder

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The changing prevalence of autism in three regions of Canada

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Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

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Cytokine dysregulation in autism spectrum disorders (ASD): Possible role of the environment

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Autism Spectrum Disorders: Is Mesenchymal Stem Cell Personalized Therapy the Future?

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Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

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Prevalence of Autism Spectrum Disorders in a Total Population Sample

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Transcriptomic analysis of autistic brain reveals convergent molecular pathology

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The Structure and Dynamics of Cocitation Clusters: A Multiple-Perspective Cocitation Analysis

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Mapping knowledge structure by keyword co-occurrence: a first look at journal papers in Technology Foresight

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SCIENTOMETRICS (2010)

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h-Index: A review focused in its variants, computation and standardization for different scientific fields

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Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome

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Psychiatric disorders in children with autism spectrum disorders: Prevalence, comorbidity, and associated factors in a population-derived sample

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Association between microdeletion and microduplication at 16p11.2 and autism

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NEW ENGLAND JOURNAL OF MEDICINE (2008)

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Autism spectrum phenotype in males and females with fragile x full mutation and premutation

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Review Behavioral Sciences

Animal models relevant to schizophrenia and autism: Validity and limitations

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