scholarly journals Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder

2021 ◽  
Vol 12 ◽  
Author(s):  
Kristen D. Enriquez ◽  
Abha R. Gupta ◽  
Ellen J. Hoffman
Keyword(s):  
Regulation Of Gene Expression ◽  
Autism Spectrum ◽  
Biological Pathways ◽  
Estrogen Signaling ◽  
Male Predominance ◽  
Neuronal Communication ◽  
Whole Exome ◽  
Sequencing Studies ◽  
Female Protective Effect ◽  
Patterns Of Behavior

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders associated with deficits in social communication and restrictive, repetitive patterns of behavior, that affect up to 1 in 54 children. ASDs clearly demonstrate a male bias, occurring ~4 times more frequently in males than females, though the basis for this male predominance is not well-understood. In recent years, ASD risk gene discovery has accelerated, with many whole-exome sequencing studies identifying genes that converge on common pathways, such as neuronal communication and regulation of gene expression. ASD genetics studies have suggested that there may be a “female protective effect,” such that females may have a higher threshold for ASD risk, yet its etiology is not well-understood. Here, we review common biological pathways implicated by ASD genetics studies as well as recent analyses of sex differential processes in ASD using imaging genomics, transcriptomics, and animal models. Additionally, we discuss recent investigations of ASD risk genes that have suggested a potential role for estrogens as modulators of biological pathways in ASD, and highlight relevant molecular and cellular pathways downstream of estrogen signaling as potential avenues for further investigation.

scholarly journals Endocannabinoid System Dysregulation from Acetaminophen Use May Lead to Autism Spectrum Disorder: Could Cannabinoid Treatment Be Efficacious?

Molecules ◽  
2021 ◽  
Vol 26 (7) ◽  
pp. 1845
Author(s):  
Stephen Schultz ◽  
Georgianna G. Gould ◽  
Nicola Antonucci ◽  
Anna Lisa Brigida ◽  
Dario Siniscalco
Keyword(s):  
Autism Spectrum Disorder ◽  
Cannabinoid Receptors ◽  
Current Knowledge ◽  
Endocannabinoid System ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Blood Levels ◽  
Increased Risk ◽  
Patterns Of Behavior ◽  
Arachidonoyl Glycerol

Persistent deficits in social communication and interaction, and restricted, repetitive patterns of behavior, interests or activities, are the core items characterizing autism spectrum disorder (ASD). Strong inflammation states have been reported to be associated with ASD. The endocannabinoid system (ECS) may be involved in ASD pathophysiology. This complex network of lipid signaling pathways comprises arachidonic acid and 2-arachidonoyl glycerol-derived compounds, their G-protein-coupled receptors (cannabinoid receptors CB1 and CB2) and the associated enzymes. Alterations of the ECS have been reported in both the brain and the immune system of ASD subjects. ASD children show low EC tone as indicated by low blood levels of endocannabinoids. Acetaminophen use has been reported to be associated with an increased risk of ASD. This drug can act through the ECS to produce analgesia. It may be that acetaminophen use in children increases the risk for ASD by interfering with the ECS.This mini-review article summarizes the current knowledge on this topic.

scholarly journals Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Marta Codina-Solà ◽  
Benjamín Rodríguez-Santiago ◽  
Aïda Homs ◽  
Javier Santoyo ◽  
Maria Rigau ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Transcriptome Profiling ◽  
Autism Spectrum ◽  
Integrated Analysis ◽  
Whole Exome ◽  
Spectrum Disorders

Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature

2021 ◽  
pp. 109352662110511
Author(s):  
Mukul Vij ◽  
Srinivas Sankaranarayanan
Keyword(s):  
Liver Transplantation ◽  
Liver Disease ◽  
Liver Biopsy ◽  
Intrahepatic Cholestasis ◽  
Cholestatic Liver Disease ◽  
Review Of Literature ◽  
Biallelic Mutation ◽  
Whole Exome ◽  
Sequencing Studies ◽  
Biallelic Mutations

Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 ( USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease.

scholarly journals Rare variants in axonogenesis genes connect three families with sound–color synesthesia

2018 ◽  
Vol 115 (12) ◽  
pp. 3168-3173 ◽  
Author(s):  
Amanda K. Tilot ◽  
Katerina S. Kucera ◽  
Arianna Vino ◽  
Julian E. Asher ◽  
Simon Baron-Cohen ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Rare Variants ◽  
Autism Spectrum ◽  
Sensory Experiences ◽  
Limited Success ◽  
Whole Exome ◽  
Rare Genetic Variants ◽  
Sound Color ◽  
Stimulation Of

Synesthesia is a rare nonpathological phenomenon where stimulation of one sense automatically provokes a secondary perception in another. Hypothesized to result from differences in cortical wiring during development, synesthetes show atypical structural and functional neural connectivity, but the underlying molecular mechanisms are unknown. The trait also appears to be more common among people with autism spectrum disorder and savant abilities. Previous linkage studies searching for shared loci of large effect size across multiple families have had limited success. To address the critical lack of candidate genes, we applied whole-exome sequencing to three families with sound–color (auditory–visual) synesthesia affecting multiple relatives across three or more generations. We identified rare genetic variants that fully cosegregate with synesthesia in each family, uncovering 37 genes of interest. Consistent with reports indicating genetic heterogeneity, no variants were shared across families. Gene ontology analyses highlighted six genes—COL4A1, ITGA2, MYO10, ROBO3, SLC9A6, and SLIT2—associated with axonogenesis and expressed during early childhood when synesthetic associations are formed. These results are consistent with neuroimaging-based hypotheses about the role of hyperconnectivity in the etiology of synesthesia and offer a potential entry point into the neurobiology that organizes our sensory experiences.

scholarly journals Construction of an exome-wide risk score for schizophrenia based on a weighted burden test

2017 ◽  
Author(s):  
David Curtis
Keyword(s):  
Risk Score ◽  
Rare Variants ◽  
Risk Scores ◽  
Individual Risk ◽  
Data Sets ◽  
Weighted Sum ◽  
Polygenic Risk ◽  
Whole Exome ◽  
Sequencing Studies ◽  
Burden Test

SummaryPolygenic risk scores obtained as a weighted sum of associated variants can be used to explore association in additional data sets and to assign risk scores to individuals. The methods used to derive polygenic risk scores from common SNPs are not suitable for variants detected in whole exome sequencing studies. Rare variants which may have major effects are seen too infrequently to judge whether they are associated and may not be shared between training and test subjects. A method is proposed whereby variants are weighted according to their frequency, their annotations and to the genes they affect. A weighted sum across all variants provides an individual risk score. Scores constructed in this way are used in a weighted burden test and are shown to be significantly different between schizophrenia cases and controls using a five-way cross validation procedure. This approach represents a first attempt to summarise exome sequence variation into a summary risk score, which could be combined with risk scores from common variants and from environmental factors. It is hoped that the method could be developed further.

scholarly journals Certain Inclusion Problems in Autism Spectrum Disorders

2020 ◽  
Vol 18 (1) ◽  
pp. 51-61
Author(s):  
S.A. Morozov ◽  
S.S. Morozova ◽  
T.I. Morozova
Keyword(s):  
Autism Spectrum Disorders ◽  
Inclusive Education ◽  
Autism Spectrum ◽  
Ceteris Paribus ◽  
Inclusion Process ◽  
Great Achievement ◽  
Patterns Of Behavior ◽  
Spectrum Disorders ◽  
The Stability ◽  
Autistic Disorders

The term “Inclusion” is not identical to the concepts of “Inclusive education”, which is much wider. The educational system of children with autism spectrum disorders (ASD) in Russia is only developing and the focus on inclusion is a great achievement. Inclusive education in autistic disorders is a special case. The most difficulties in organizing of inclusion of children with ASD caused by main symptoms — communication and social interaction disorders, repeated stereotypical patterns of behavior, interests and activities. After all, these symptoms create a special development situation that makes necessary to solve the following problems: improving the organization of the inclusive process, feasibility and possibility of inclusion process. Typical difficulties faced by domestic and foreign experts reviewed, for example: increased social anxiety in children, lack of trained personnel, and lack of diagnostic in children. Emphasized that the success of inclusion process depends on several things: the readiness for inclusion of the child with autism, the readiness of the environment where inclusion carried out, the level of its tolerance and, finally, the competence of psychological and pedagogical staff. The age of the child and the environment plays a large role: ceteris paribus, the early onset of inclusion contributes to the stability of inclusive readiness of the environment.

scholarly journals PENERAPAN DIR FLOORTIME PADA ANAK DENGAN AUTISM SPECTRUM DISORDER UNTUK MENINGKATKAN KEMAMPUAN SOSIAL

Psibernetika ◽  
2019 ◽  
Vol 11 (2) ◽  
Author(s):  
Elita Kirana ◽  
Ediasri T Atmodiwirjo ◽  
Debora Basaria
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Skills ◽  
Individual Differences ◽  
Middle Childhood ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Post Test ◽  
Patterns Of Behavior

<p><strong><em>ABSTRACT</em></strong><strong><em>: </em></strong><em>Children with autism have deficit characteristics in social communication and social interaction, as well as restricted and repetitive patterns of behavior, and limited interests or activities. As children grow and engage in a wider environment, this is become a problem because of the lack of social skills on children with autism. The purpose of this research is to improve the social skills of children with autism. There are several methods that can be applied to children with autism to improve their social skills. One of them is the DIR </em>(<em>Developmental, Individual Differences, &amp; Relationship Based</em>) <em>Floortime method. DIR Floortime aims to help children reach the stage of their emotional development through play activities. This type of research is a clinical case study, involving two middle childhood boys that are diagnosed with a mild level of autism. The instruments used in this study are Autism Social Skills Profile and Functional Emotional Assessment Scale. This research involves 20 sessions, conducted in May until June 2018, consisting of 10 sensory sessions and 10  symbolic sessions for each subject. The results of this research show an improvement in social skills in both participants, marked by an increase in the post test scores, but not significantly. Qualitatively, both subject demonstrates an improvement on social skills in their daily behavior after they had participated in the intervention.</em><strong><em></em></strong></p><p><strong><em>Keywords</em></strong><strong>: </strong><em>autism spectrum disorder, middle childhood, </em>DIR <em>Floortime,social skills</em></p><p><strong> </strong></p><p><strong>ABSTRAK</strong><strong>: </strong>Anak autistik memiliki karakteristik kesulitan dalam komunikasi dan interaksi sosial serta adanya yang minat terbatas, perilaku berulang, atau keterikatan dalam minat dan aktivitas. Hal ini menjadi masalah saat anak tumbuh seiring usia dan terlibat dalam lingkungan yang lebih luas karena kurangnya kemampuan sosial pada anak autistik. Penelitian ini bertujuan untuk meningkatkan kemampuan sosial anak autistik. Ada beberapa metode yang dapat diterapkan pada anak autistik untuk meningkatkan kemampuan sosial. Salah satunya adalah metode DIR (<em>Developmental, Individual Differences, &amp; Relationship Based</em>) <em>Floortime</em>. DIR<em> Floortime</em>  bertujuan membantu anak mencapai tahap perkembangan emosionalnya melalui kegiatan bermain. Jenis penelitian ini adalah case study yang melibatkan dua orang partisipan, yaitu anak laki-laki berusia <em>middle childhood</em> dengan autisme <em>level Mild</em>. Instrumen dalam penelitian ini adalah <em>Autism Social Skills Profile dan Functional Emotional Assesment Scale</em>. Penelitian ini berlangsung selama 20 sesi intervensi yang dilaksanakan pada bulan Mei hingga Juni 2018. Sesi intervensi terdiri dari 10 sesi sensori auditori dan 10 sesi simbolik bagi masing-masing subjek. Hasil penelitian menunjukkan adanya peningkatan yang signifikan pada kapasitas emosi, tetapi kemampuan sosial kedua partisipan tidak meningkat secara signifikan. Secara kualitatif, kedua subjek menunjukkan kemampuan sosial yang lebih baik setelah mengikuti sesi intervensi, hal ini tampak dalam perilaku sehari-hari.<strong></strong></p><p><strong>Kata kunci</strong>: autisme<em>, middle childhood, </em>DIR <em>Floortime,</em> kemampuan sosial</p>

Talentos e Aptidões: Um olhar sobre o Autismo

2021 ◽  
Author(s):  
Jaime Lin
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Educational Environment ◽  
Clinical Heterogeneity ◽  
Economic Costs ◽  
The World ◽  
Medical Term ◽  
Patterns Of Behavior ◽  
The Media

Autism is a medical term that encompasses a broad spectrum of neurodevelopmental disorders characterized by impaired reciprocal socialization and communication, often accompanied by restricted or repetitive patterns of behavior and interests. Due to the enlargement in the clinical diagnostic boundaries and the increased awareness of autism spectrum disorder (ASD), the world has seen a dramatic increase in its prevalence during the last two decades. ASD is currently considered one of the most common neurodevelopmental disorders worldwide. Frequently reported in terms of comorbidities, disabilities, burden and economic costs, the talents, gifts and abilities of people within the autistic spectrum only reaches the media when it amazes the audience. In this review, we want show that the high clinical heterogeneity found in autism can also be applied to the gifts and abilities, and that it must be nurtured with appropriate developmental, educational environment and above all, support and hope.

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