Dataset Information

BOLD signal variability and complexity in children and adolescents with and without autism spectrum disorder.

ABSTRACT: Variability of neural signaling is an important index of healthy brain functioning, as is signal complexity, which relates to information processing capacity. Alterations in variability and complexity may underlie certain brain dysfunctions. Here, resting-state fMRI was used to examine variability and complexity in children and adolescents with and without autism spectrum disorder (ASD). Variability was measured using the mean square successive difference (MSSD) of the time series, and complexity was assessed using sample entropy. A categorical approach was implemented to determine if the brain measures differed between diagnostic groups (ASD and controls). A dimensional approach was used to examine the continuum of relationships between each brain measure and behavioral severity, age, IQ, and the global efficiency (GE) of each participant's structural connectome, which reflects the structural capacity for information processing. Using the categorical approach, no significant group differences were found for neither MSSD nor entropy. The dimensional approach revealed significant positive correlations between each brain measure, GE, and age. Negative correlations were observed between each brain measure and the severity of ASD behaviors across all participants. These results reveal the nature of variability and complexity of BOLD signals in children and adolescents with and without ASD.

SUBMITTER: Easson AK

PROVIDER: S-EPMC6969202 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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BOLD signal variability and complexity in children and adolescents with and without autism spectrum disorder.

Easson Amanda K AK McIntosh Anthony R AR

Developmental cognitive neuroscience 20190305

Variability of neural signaling is an important index of healthy brain functioning, as is signal complexity, which relates to information processing capacity. Alterations in variability and complexity may underlie certain brain dysfunctions. Here, resting-state fMRI was used to examine variability and complexity in children and adolescents with and without autism spectrum disorder (ASD). Variability was measured using the mean square successive difference (MSSD) of the time series, and complexit ...[more]

PMID: 30878549

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Project description:Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism. The objective of the study was to test the hypothesis that genetic variability in creatine metabolism genes is associated with autism. We sequenced GATM, GAMT and SLC6A8 genes in 166 patients with autism (coding sequence, introns and adjacent untranslated regions). A total of 29, 16 and 25 variants were identified in each gene, respectively. Four variants were novel in GATM, and 5 in SLC6A8 (not present in the 1000 Genomes, Exome Sequencing Project (ESP) or Exome Aggregation Consortium (ExAC) databases). A single variant in each gene was identified as non-synonymous, and computationally predicted to be potentially damaging. Nine variants in GATM were shown to have a lower minor allele frequency (MAF) in the autism population than in the 1000 Genomes database, specifically in the East Asian population (Fisher's exact test). Two variants also had lower MAFs in the European population. In summary, there were no apparent associations of variants in GAMT and SLC6A8 genes with autism. The data implying there could be a lower association of some specific GATM gene variants with autism is an observation that would need to be corroborated in a larger group of autism patients, and with sub-populations of Asian ethnicities. Overall, our findings suggest that the genetic variability of creatine synthesis/transport is unlikely to play a part in the pathogenesis of autism spectrum disorder (ASD) in children.

Dataset Information

BOLD signal variability and complexity in children and adolescents with and without autism spectrum disorder.

Publications

BOLD signal variability and complexity in children and adolescents with and without autism spectrum disorder.

Similar Datasets

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