scholarly journals Excitation/Inhibition Modulators in Autism Spectrum Disorder: Current Clinical Research

2021 ◽  
Vol 15 ◽  
Author(s):  
Roberto Canitano ◽  
Roberto Palumbi
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Clinical Approach ◽  
Gabaergic Neurotransmission ◽  
Targeted Interventions ◽  
The Core ◽  
Associated Symptoms

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social and communication abnormalities. Heterogeneity in the expression and severity of the core and associated symptoms poses difficulties in classification and the overall clinical approach. Synaptic abnormalities have been observed in preclinical ASD models. They are thought to play a major role in clinical functional abnormalities and might be modified by targeted interventions. An imbalance in excitatory to inhibitory neurotransmission (E/I imbalance), through altered glutamatergic and GABAergic neurotransmission, respectively, is thought to be implicated in the pathogenesis of ASD. Glutamatergic and GABAergic agents have been tested in clinical trials with encouraging results as to efficacy and tolerability. Further studies are needed to confirm the role of E/I modulators in the treatment of ASD and on the safety and efficacy of the current agents.

scholarly journals Role of Copy Number Variations in ADHD

2020 ◽  
Author(s):  
Danijela Krgović
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Genetic Diagnostics ◽  
Healthy Controls

Copy number variations (CNV) have an important role in etiology of neurodevelopmental disorders (NDD). Among them, individuals with attention-deficit and hyperactivity disorders (ADHD) have 1.33 times higher overall rate of CNVs larger than 100 kb compared to healthy controls. These CNVs are often shared with other NDDs and neuropsychiatric disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD), although duplications of 15q13.3 and 16p13.11 have been found enriched in ADHD cohorts. CNVs provide new opportunities for studying and management of psychiatric disorders including ADHD. Therefore this chapter provides a brief overview of the literature on this topic and presents the benefits of CNV genetic diagnostics in ADHD patients.

Recent Updates in Psychopharmacology for the Core and Associated Symptoms of Autism Spectrum Disorder

2021 ◽  
Vol 23 (12) ◽  
Author(s):  
Robyn P. Thom ◽  
Joseph A. Pereira ◽  
Danielle Sipsock ◽  
Christopher J. McDougle
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
The Core ◽  
Associated Symptoms

scholarly journals A systematic review and meta-analysis of studies on metaphor comprehension in individuals with autism spectrum disorder: Do task properties matter?

2019 ◽  
Vol 40 (6) ◽  
pp. 1421-1454 ◽  
Author(s):  
Tamar Kalandadze ◽  
Valentina Bambini ◽  
Kari-Anne B. Næss
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Syntactic Structure ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Response Format ◽  
Metaphor Comprehension ◽  
The Relationship

AbstractIndividuals with autism spectrum disorder (ASD) often experience difficulty in comprehending metaphors compared to individuals with typical development (TD). However, there is a large variation in the results across studies, possibly related to the properties of the metaphor tasks. This preregistered systematic review and meta-analysis (a) explored the properties of the metaphor tasks used in ASD research, and (b) investigated the group difference between individuals with ASD and TD on metaphor comprehension, as well as the relationship between the task properties and any between-study variation. A systematic search was undertaken in seven relevant databases. Fourteen studies fulfilled our predetermined inclusion criteria. Across tasks, we detected four types of response format and a great variety of metaphors in terms of familiarity, syntactic structure, and linguistic context. Individuals with TD outperformed individuals with ASD on metaphor comprehension (Hedges’ g = −0.63). Verbal explanation response format was utilized in the study showing the largest effect size in the group comparison. However, due to the sparse experimental manipulations, the role of task properties could not be established. Future studies should consider and report task properties to determine their role in metaphor comprehension, and to inform experimental paradigms as well as educational assessment.

scholarly journals Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1053
Author(s):  
Jasleen Dhaliwal ◽  
Ying Qiao ◽  
Kristina Calli ◽  
Sally Martell ◽  
Simone Race ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Rare Variants ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Compound Heterozygous ◽  
Variable Effect ◽  
Gabaergic Neurotransmission ◽  
High Heritability ◽  
Compound Heterozygous Variants

Autism Spectrum Disorder (ASD) is the most common neurodevelopmental disorder in children and shows high heritability. However, how inherited variants contribute to ASD in multiplex families remains unclear. Using whole-genome sequencing (WGS) in a family with three affected children, we identified multiple inherited DNA variants in ASD-associated genes and pathways (RELN, SHANK2, DLG1, SCN10A, KMT2C and ASH1L). All are shared among the three children, except ASH1L, which is only present in the most severely affected child. The compound heterozygous variants in RELN, and the maternally inherited variant in SHANK2, are considered to be major risk factors for ASD in this family. Both genes are involved in neuron activities, including synaptic functions and the GABAergic neurotransmission system, which are highly associated with ASD pathogenesis. DLG1 is also involved in synapse functions, and KMT2C and ASH1L are involved in chromatin organization. Our data suggest that multiple inherited rare variants, each with a subthreshold and/or variable effect, may converge to certain pathways and contribute quantitatively and additively, or alternatively act via a 2nd-hit or multiple-hits to render pathogenicity of ASD in this family. Additionally, this multiple-hits model further supports the quantitative trait hypothesis of a complex genetic, multifactorial etiology for the development of ASDs.

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