Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism.

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Insights into Dyslexia Genetics Research from the Last Two Decades

Brain Sciences ◽

10.3390/brainsci12010027 ◽

2021 ◽

Vol 12 (1) ◽

pp. 27

Author(s):

Florina Erbeli ◽

Marianne Rice ◽

Silvia Paracchini

Keyword(s):

Language Disorder ◽

Association Studies ◽

Neurodevelopmental Disorder ◽

Molecular Genetic ◽

Genetic Research ◽

Twin Studies ◽

Genome Wide Association Studies ◽

Genetics Research ◽

Genome Wide ◽

Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

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Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

Translational Psychiatry ◽

10.1038/s41398-019-0599-y ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 12

Author(s):

Olafur O. Gudmundsson ◽

G. Bragi Walters ◽

Andres Ingason ◽

Stefan Johansson ◽

Tetyana Zayats ◽

...

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Neurodevelopmental Disorders ◽

Copy Number ◽

Neurodevelopmental Disorder ◽

Copy Number Variant ◽

Pleiotropic Effect ◽

Autism Spectrum ◽

Copy Number Variations ◽

Hyperactivity Disorder

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5–BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10−21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

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Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress

Case Reports in Psychiatry ◽

10.1155/2017/4254152 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Paulo André Pera Grabowski ◽

Alexandre Ferreira Bello ◽

Diogo Lima Rodrigues ◽

Murilo José Forbeci ◽

Vinicius Motter ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Gene Locus ◽

Association Studies ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Genome Wide Association Studies ◽

Genome Wide ◽

Language Communication ◽

And Behavior

Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.

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Emotion Regulation in Autism Spectrum Disorder

Emotion Regulation and Psychopathology in Children and Adolescents ◽

10.1093/med:psych/9780198765844.003.0012 ◽

2017 ◽

pp. 235-258

Author(s):

Jonathan A. Weiss ◽

Priscilla Burnham Riosa ◽

Carla A. Mazefsky ◽

Renae Beaumont

Keyword(s):

Autism Spectrum Disorder ◽

Emotion Regulation ◽

Emotion Dysregulation ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Expressive Suppression ◽

Children With Asd ◽

Regulatory Strategies ◽

Patterns Of Behavior

Chapter 12 discusses childhood and adolescent autism spectrum disorder (ASD), a pervasive neurodevelopmental disorder characterized by deficits in social communication, and by restricted, repetitive patterns of behavior, interests, or activities. Emotion regulation difficulty, particularly understanding emotion, is common in ASD, as is the use of maladaptive regulatory strategies (i.e., avoidance, expressive suppression). In terms of treatment, robust empirical evidence supports using mindfulness and cognitive behavioral approaches in treating anxiety, a frequent outcome of emotion dysregulation in youth ASD. In addition, two psychopharmacologic medications, risperidone and ariprazole, have well-established evidence supporting their utility in this population. Understanding the underlying dynamics of emotion regulation through ASD from a developmental perspective, whilst considering the stressors unique to this population, is imperative in order to improve treatment outcomes and optimize individualized skill development. The chapter concludes with a description of a novel intervention designed to specifically address emotion regulation difficulties in children with ASD.

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SOCIAL INCLUSION OF CHILDREN DIAGNOSED WITHAUTISM SPECTRUM DISORDER IN INDIA: A LITERATURE REVIEW

European Journal of Special Education Research ◽

10.46827/ejse.v7i4.4024 ◽

2021 ◽

Vol 7 (4) ◽

Author(s):

Malvika Samnani ◽

Sujata Shahi ◽

Manish Samnani ◽

Kanika Nanda ◽

Mansi Srivastava ◽

...

Keyword(s):

Social Inclusion ◽

Empirical Studies ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Future Research ◽

Patterns Of Behavior ◽

Data Source ◽

Social Interaction Skills

Autism Spectrum Disorder is a neurodevelopmental disorder defined by insufficiency in social communication and social interaction skills and restricted and repetitive patterns of behavior. The aim of this research was to analyze empirical studies on inclusion of children with Autism in India over the past 20 years and then propose recommendations for future research. A systematic process was used to conduct the review which included identifying the data source, assessing the quality of our studies, and drawing analysis of our findings. The result included different stakeholder’s perspectives which were parents and teachers. Article visualizations:<img src="/-counters-/edu_01/0986/a.php" alt="Hit counter" />

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De novo variants in Chinese ASD trios reveal distinct genetic basis underlying autism with and without developmental delay

10.21203/rs.3.rs-1133175/v1 ◽

2021 ◽

Author(s):

Jincheng Wang ◽

Juehua Yu ◽

Mengdi Wang ◽

Lingli Zhang ◽

Kan Yang ◽

...

Keyword(s):

Developmental Delay ◽

Neural Progenitor Cells ◽

De Novo ◽

Neurodevelopmental Disorder ◽

East Asian ◽

Asian Population ◽

Autism Spectrum ◽

Expression Of Genes ◽

Genome Wide ◽

Human Neural Progenitor Cells

Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder causing impairments in social communication and stereotypical behaviors, often with developmental delay or intellectual disabilities (DD/ID). Accruing evidence indicates that ASD is highly heritable and genome-wide studies on ASD cohorts have defined numerous genetic contributors. Notably, since most of these studies have been performed with individuals of European and Hispanic ancestries, thus there is a paucity of genetic analyses of ASD in the East Asian population. Here, we performed whole-exome sequencing on 772 Chinese ASD trios, combining with a previous 369 ASD trios, to identify de novo variants in 1141 ASD trios. We found that ASD without DD/ID carried less disruptive de novo variants than ASD with DD/ID. Surprisingly, we found that expression of genes with de novo variants in ASD without DD/ID were enriched in a subtype of human neural progenitor cells. Importantly, some ASD risk genes identified in this study are not present in the current ASD gene database, suggesting that there may be unique genetic contributors to ASD with the East Asian ancestry. We validated one such novel ASD candidate gene – SLC35G1 by showing that mice harboring heterozygous deletion of Slc35g1 exhibited defects in social interaction behaviors. Together, this work nominates novel ASD candidate genes and suggests that genome-wide genetic studies in ASD cohorts of different ancestries are essential to reveal the comprehensive genetic architecture of ASD.

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Neuroinflammation in Autism and Supplementation Based on Omega-3 Polyunsaturated Fatty Acids: A Narrative Review

Medicina ◽

10.3390/medicina57090893 ◽

2021 ◽

Vol 57 (9) ◽

pp. 893

Author(s):

Aleksandra Veselinović ◽

Snježana Petrović ◽

Vladica Žikić ◽

Miško Subotić ◽

Vladimir Jakovljević ◽

...

Keyword(s):

Fatty Acids ◽

Polyunsaturated Fatty Acids ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Added Value ◽

Omega 3 ◽

Behavioral Deficits ◽

Pufa Supplementation ◽

Children With Asd ◽

Patterns Of Behavior

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction across multiple contexts and restricted, repetitive patterns of behavior, interests and activities. The maternal status of polyunsaturated fatty acids (PUFA) regulates microglial activity and neuroinflammatory pathways during a child’s brain development. In children with ASD, the metabolism of PUFA is thought to be deficient or abnormal, leading to increased production of proinflammatory cytokines, increased oxidative stress and an imbalance in the formation and action of neurotransmitters. In addition, nutritional deficits in omega-3 PUFA may affect gut microbiota and contribute to ASD by the gut–brain axis. The aim of this study was to review the possible role of neuroinflammation in ASD development and the effect of omega-3 PUFA supplementation in children with ASD. Due to a wide heterogeneity across RCTs, no definitive conclusion about omega-3 PUFA effects in ASD can be drawn. Supplementation with PUFA could be considered as one of the aspects in regulating the biological status of the organism and could provide added value to standard medical and psychological interventions for reducing behavioral deficits.

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Endocannabinoid System Unlocks the Puzzle of Autism Treatment via Microglia

Frontiers in Psychiatry ◽

10.3389/fpsyt.2021.734837 ◽

2021 ◽

Vol 12 ◽

Author(s):

Tangfeng Su ◽

Yu Yan ◽

Qiang Li ◽

Jiacai Ye ◽

Lei Pei

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Neurodevelopmental Disorder ◽

Treatment Strategies ◽

Endocannabinoid System ◽

Autism Spectrum ◽

Autism Treatment ◽

Patterns Of Behavior ◽

The Central Nervous System ◽

New Treatment

Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder and characterized by early childhood-onset impairments in social interaction and communication, restricted and repetitive patterns of behavior or interests. So far there is no effective treatment for ASD, and the pathogenesis of ASD remains unclear. Genetic and epigenetic factors have been considered to be the main cause of ASD. It is known that endocannabinoid and its receptors are widely distributed in the central nervous system, and provide a positive and irreversible change toward a more physiological neurodevelopment. Recently, the endocannabinoid system (ECS) has been found to participate in the regulation of social reward behavior, which has attracted considerable attention from neuroscientists and neurologists. Both animal models and clinical studies have shown that the ECS is a potential target for the treatment of autism, but the mechanism is still unknown. In the brain, microglia express a complete ECS signaling system. Studies also have shown that modulating ECS signaling can regulate the functions of microglia. By comprehensively reviewing previous studies and combining with our recent work, this review addresses the effects of targeting ECS on microglia, and how this can contribute to maintain the positivity of the central nervous system, and thus improve the symptoms of autism. This will provide insights for revealing the mechanism and developing new treatment strategies for autism.

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MicroRNA-targeted signaling pathways in the Autism spectrum disorder: implications for early detection and targeted therapy

CNS & Neurological Disorders - Drug Targets ◽

10.2174/1871527319666200907123315 ◽

2020 ◽

Vol 19 ◽

Author(s):

Rasoul Alizadeh ◽

Zahra Bahmanpoor ◽

Shahabeddin Jalali-Qomi ◽

Mahdi Amiri ◽

Hamed Afkhami ◽

...

Keyword(s):

Signaling Pathway ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Diagnostic Tools ◽

Receptor Interaction ◽

In Silico Study ◽

Bioinformatics Databases ◽

Patterns Of Behavior ◽

Novel Biomarkers ◽

Communication Impairments

Background & Objective: Autism Spectrum Disorders (ASD) known as a neurodevelopmental disorder showing communication impairments and unusual patterns of behavior .It seems that ASD frequency is on the increase. Therefore, diagnostic tools that help detect the disease in the early stages can be very useful in better management of the disease. Recent studies represent that miRNAs as novel biomarkers can be used to find out the process and etiology of ASD by regulating various genes of multiple pathways. However, ASD associated pathway targeted by miRNA is still in infancy. Methods: In this in-silico study taking into consideration the importance of miRNAs, we reviewed bioinformatics databases for finding possible pathways and potential miRNAs related to selected pathways. Results: The results displayed some prominent pathways involved in ASD, as well as some experimental and predicted miRNAs that may regulate targets associated with these pathways such as neuroactive ligand-receptor interaction, serotonergic synapse, calcium signaling pathway, cAMP Signaling Pathway, PI3K-Akt signaling pathway. Conclusion: This study showed that the identified miRNAs may be involved in ASD-related pathways and may be considered as a new diagnostic tool and provide potential targets for the treatment of ASD.

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Insights into attention-deficit/hyperactivity disorder from recent genetic studies

Psychological Medicine ◽

10.1017/s0033291721000982 ◽

2021 ◽

pp. 1-13

Author(s):

Isabell Brikell ◽

Christie Burton ◽

Nina Roth Mota ◽

Joanna Martin

Keyword(s):

Risk Factors ◽

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Large Scale ◽

Neurodevelopmental Disorder ◽

Molecular Genetic ◽

Genetic Research ◽

Genetic Studies ◽

Hyperactivity Disorder ◽

Genetic Risks

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5–10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Studies are converging on a number of key insights. First, ADHD is a highly polygenic NDD with a complex genetic architecture encompassing risk variants across the spectrum of allelic frequencies, which are implicated in neurobiological processes. Second, genetic studies strongly suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, with shared genetic risks also seen across development and sex. Third, ADHD genetic risks are shared with those implicated in many other neurodevelopmental, psychiatric and somatic phenotypes. As sample sizes and the diversity of genetic studies continue to increase through international collaborative efforts, we anticipate further success with gene discovery, characterization of how the ADHD phenotype relates to other human traits and growing potential to use genomic risk factors for understanding clinical trajectories and for precision medicine approaches.

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