Advances in our understanding of the genetics of childhood neurodevelopmental disorders

Doherty, Joanne L.; Cooper, Miriam; Thapar, Anita

doi:10.1136/ebmental-2018-300067

Cited by 8 publications

(4 citation statements)

References 31 publications

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“…Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by difficulties in socialcommunication, repetitive behaviors and atypical response to sensory information (APA 2013). While the etiology in most cases is unknown, both genetic and environmental factors are believed to contribute to the ASD phenotype through modulation of synaptic connectivity and regulation of neurotransmitters and their transcription factors (Autism Genome Project 2007; Chaste and Leboyer 2012;Yu et al 2015;Doherty et al 2018;An et al 2018;Grove et al 2019;Sanders et al 2015). There are presently no biomarkers for ASD (McPartland 2016).…”

mentioning

confidence: 99%

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

Constable

Ritvo

et al. 2020

J Autism Dev Disord

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Light-adapted (LA) electroretinograms (ERGs) from 90 individuals with autism spectrum disorder (ASD), mean age (13.0 ± 4.2), were compared to 87 control subjects, mean age (13.8 ± 4.8). LA-ERGs were produced by a random series of nine different Troland based, full-field flash strengths and the ISCEV standard flash at 2/s on a 30 cd.m -2 white background. A random effects mixed model analysis showed the ASD group had smaller b-and a-wave amplitudes at high flash strengths (p<0.001) and slower b-wave peak times (p<0.001). Photopic hill models showed the peaks of the component Gaussian (p=0.035) and logistic functions (p=0.014) differed significantly between groups. Retinal neurophysiology assessed by LA-ERG provides insight into neural function in ASD and represents a candidate biomarker worthy of additional study.

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confidence: 99%

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

Constable

Ritvo

et al. 2020

J Autism Dev Disord

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“…Childhood disorders such as Attention Deficit Hyperactivity Disorder (ADHD), Autism spectrum disorder (ASD), and Intellectual disability (ID) are typically complex, heterogeneous conditions that show considerable clinical overlap. There are both genetic and environmental contributions to their etiology, which are not yet fully elucidated 15 . Neurodevelopmental disorders are characterized by childhood delays in developmental domains, such as cognition, motor activities, executive functioning, language/ communication, social functioning and adaptive behavior.…”

Section: Neuro-developmental Disorders (Ndds)mentioning

confidence: 99%

Untitled

2022

IJPSR

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The scope for patients suffering from Autism Spectrum Disorder today is far brighter than what it was a century ago. A few of these individuals, after great efforts, can read, write and communicate reasonably well while living in their homes rather than support institutions. Nevertheless, a large segment of adults suffering from Autism cannot work full-time to earn their livelihood. To add to the misery, marriage and long-term relationships are out of reach for such patients. Autism Spectrum Disorder is now redefined as a constellation of symptoms manifested by defective social skills, impaired communication, stereotypical behavior and repetitive motor movements observed during early childhood. Although research in the area of childhood disorders has undergone an enormous development over the past 100 years, the etiology, pathogenesis, and biomarkers of Autism are still a matter of speculation. Autism research has witnessed blazing debates in recent years about the missed diagnosis and overlap of similar childhood disorders, which sometimes turned into academic rather than scientific face-offs. The Risk factors responsible for causing Autism, Classical Symptoms, the latest Diagnostic Criteria, and the Management Strategies have all been illustrated in this Review article with the help of selfexplanatory flow-Charts. Furthermore, this interesting article is a humble compilation of the events that led to the unification of pervasive developmental disorders into a single disorder and unfolded how the concept of Autism spectrum disorder was sequentially evolved. INTRODUCTION:Preamble: Autistic behavior has existed since ancient times, though diagnostic criteria underwent continual modifications over the last century.

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“…Neurodevelopmental disorders are most often heritable and multifactorial, implying that both genes and non-heritable factors contribute to the disorders (Doherty et al, 2018 ). The overlap between different disorders and their constituent symptoms is high (Gillberg, 2010 ).…”

Section: Introductionmentioning

confidence: 99%

The Unfolded Protein Response and Autophagy as Drug Targets in Neuropsychiatric Disorders

Srinivasan

Korhonen

Lindholm

2020

Front. Cell. Neurosci.

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Neurons are polarized in structure with a cytoplasmic compartment extending into dendrites and a long axon that terminates at the synapse. The high level of compartmentalization imposes specific challenges for protein quality control in neurons making them vulnerable to disturbances that may lead to neurological dysfunctions including neuropsychiatric diseases. Synapse and dendrites undergo structural modulations regulated by neuronal activity involve key proteins requiring strict control of their turnover rates and degradation pathways. Recent advances in the study of the unfolded protein response (UPR) and autophagy processes have brought novel insights into the specific roles of these processes in neuronal physiology and synaptic signaling. In this review, we highlight recent data and concepts about UPR and autophagy in neuropsychiatric disorders and synaptic plasticity including a brief outline of possible therapeutic approaches to influence UPR and autophagy signaling in these diseases.

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Advances in our understanding of the genetics of childhood neurodevelopmental disorders

Cited by 8 publications

References 31 publications

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

Untitled

The Unfolded Protein Response and Autophagy as Drug Targets in Neuropsychiatric Disorders

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