EEG endophenotypes in autism spectrum disorder

Capal, Jamie K.; Carosella, Christopher; Corbin, Elora; Horn, Paul S.; Caine, Rebecca; Manning-Courtney, Patricia

doi:10.1016/j.yebeh.2018.09.036

Cited by 30 publications

(21 citation statements)

References 31 publications

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“…Prior studies have linked neurophysiologic abnormalities to developmental outcomes such as in epileptic encephalopathies and autism spectrum disorders (ASDs) [16]. Capal et al recently suggested abnormal EEG patterns, even in the absence of epilepsy, were linked with worse developmental outcomes in children with ASD [22]. Similarly, abnormal EEG patterns have been linked to a number of other genetically defined intellectual and developmental disorders [23–25].…”

Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Jiménez-Gómez

Niu

Andujar-Perez

et al. 2019

J Neurodevelop Disord

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Background The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. Methods A retrospective clinical data analysis of individuals with SYNGAP1 mutations was conducted. Data included genetic diagnosis, clinical history and examinations, neurophysiologic data, neuroimaging, and serial neurodevelopmental/behavioral assessments. All patients were seen longitudinally within a 6-year period; data analysis was completed on June 30, 2018. Records for all individuals diagnosed with deleterious SYNGAP1 variants (by clinical sequencing or exome sequencing panels) were reviewed. Results Fifteen individuals (53% male) with seventeen unique SYNGAP1 mutations are reported. Mean age at genetic diagnosis was 65.9 months (28–174 months). All individuals had epilepsy, with atypical absence seizures being the most common semiology (60%). EEG abnormalities included intermittent rhythmic delta activity (60%), slow or absent posterior dominant rhythm (87%), and epileptiform activity (93%), with generalized discharges being more common than focal. Neuroimaging revealed nonspecific abnormalities (53%). Neurodevelopmental evaluation revealed impairment in all individuals, with gross motor function being the least affected. Autism spectrum disorder was diagnosed in 73% and aggression in 60% of cases. Analysis of biomarkers revealed a trend toward a moderate positive correlation between visual-perceptual/fine motor/adaptive skills and language development, with posterior dominant rhythm on electroencephalogram (EEG), independent of age. No other neurophysiology-development associations or correlations were identified. Conclusions A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1 . An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker. Electronic supplementary material The online version of this article (10.1186/s11689-019-9276-y) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Jiménez-Gómez

Niu

Andujar-Perez

et al. 2019

J Neurodevelop Disord

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“…The most reliable endophenotypes in ASD fall in following clinical subgroups: hormonal, biochemical, immunological, morphological, neurophysiological/neuroanatomical, neuropsychological, and behavioral [ 124 ]. Studies which have described endophenotypes of ASD are for hyperserotonemia [ 125 ], abnormalities of electroencepalography (EEG) [ 126 ], neuroimaging [ 127 ], head circumference [ 128 ], immunological [ 129 ], and language delay [ 130 ]. Moreover structural brain region pathophysiologies also constitute endophenotypes, for example, white matter [ 131 ], and grey matter [ 132 ].…”

Section: Endophenotypesmentioning

confidence: 99%

Molecular Dysregulation in Autism Spectrum Disorder

Gill

Clothier

Veerapandiyan

et al. 2021

JPM

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Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Moreover, studies show rare de novo variants, copy number variation and single nucleotide polymorphisms (SNPs) also impact neurodevelopment signaling. Exploration of rare and common variants involved in common dysregulated pathways can provide new diagnostic and therapeutic strategies for ASD. Contributions of current innovative molecular strategies to understand etiology of ASD will be explored which are focused on whole exome sequencing (WES), whole genome sequencing (WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models. Some promising areas of pharmacogenomic and endophenotype directed therapies as novel personalized treatment and prevention will be discussed.

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“…All the above studies, although with different percentages, seem to indicate that SEAs, even without clinical seizures, can cause permanent negative effects on the brain development, leading to more serious cognitive and/or behavioral deficits [ 37 , 48 ] and provoking severer forms of autism [ 39 ].…”

Section: Seas In Non-epileptic Patients With Asdmentioning

confidence: 99%

“…For instance, Capal et al in their retrospective study found evidence that patients with ASD and SEAs exhibited more impaired adaptive functioning (evaluated through Vineland Adaptive Behavior Scales) compared with normal EEG-ASD group ( p = 0.05) [ 37 ].…”

Section: Seas In Non-epileptic Patients With Asdmentioning

confidence: 99%

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

et al. 2020

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A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.

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EEG endophenotypes in autism spectrum disorder

Cited by 30 publications

References 31 publications

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Molecular Dysregulation in Autism Spectrum Disorder

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

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