Dataset Information

Savant syndrome has a distinct psychological profile in autism.

ABSTRACT: Background:Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills while others do not. Methods:We tested three groups of adults: autistic individuals who have savant skills, autistic individuals without savant skills, and typical controls without autism or savant syndrome. In experiment 1, we investigated the cognitive and behavioural profiles of these three groups by asking participants to complete a battery of self-report measures of sensory sensitivity, obsessional behaviours, cognitive styles, and broader autism-related traits including social communication and systemising. In experiment 2, we investigated how our three groups learned a novel savant skill-calendar calculation. Results:Heightened sensory sensitivity, obsessional behaviours, technical/spatial abilities, and systemising were all key aspects in defining the savant profile distinct from autism alone, along with a different approach to task learning. Conclusions:These results reveal a unique cognitive and behavioural profile in autistic adults with savant syndrome that is distinct from autistic adults without a savant skill.

SUBMITTER: Hughes JEA

PROVIDER: S-EPMC6186137 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Savant syndrome has a distinct psychological profile in autism.

Hughes James E A JEA Ward Jamie J Gruffydd Elin E Baron-Cohen Simon S Smith Paula P Allison Carrie C Simner Julia J

Molecular autism 20181012

<h4>Background</h4>Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills while others do not.<h4>Methods</h4>We tested three groups of adults: autistic individuals who have savant skills, autistic individuals without savant skills, and typical controls without autism or savant syndrome. In experiment 1, we investigated the cognitive and behav ...[more]

PMID: 30344992

Similar Datasets

Project description:Immunocompromised status, with and without stem cell transplant, confers a worse prognosis in pediatric acute respiratory distress syndrome. An improved understanding of the biochemical profile of immunocompromised children with acute respiratory distress syndrome would inform whether specific pathways are targetable, or merely bystanders, in order to improve outcomes in this high-risk subgroup.ObjectivesWe aimed to identify a biomarker profile of immunocompromised children, with and without stem cell transplant, independent of illness severity.Design settings and participantsThis was a secondary analysis of a prospective cohort study of intubated children with Berlin-defined acute respiratory distress syndrome with existing biomarker measurements conducted in a large academic PICU between 2014 and 2019.Main outcomes and measuresBiomarker levels were compared between immunocompetent and immunocompromised children, with and without stem cell transplant, both prior to and after adjusting for severity of illness.ResultsIn 333 children with acute respiratory distress syndrome, 84 were immunocompromised, of whom 39 had a stem cell transplant. Circulating neutrophil levels were strongly correlated with biomarkers, with 14 of 18 measured proteins differentially expressed in patients with versus without neutropenia. In order to identify biomarker levels independent of severity of illness, acute respiratory distress syndrome etiology, and neutrophil levels, we computed predicted (log-transformed) biomarker levels after adjusting for confounders using linear regression and then compared these severity-adjusted levels between immunocompetent and immunocompromised (with and without stem cell transplant) subjects using analyses of variance and post hoc Bonferroni. After multivariable adjustment, 11 biomarkers were higher in immunocompromised subjects without stem cell transplant, relative to immunocompetent, implicating endotheliopathy (angiopoietin-2), tissue damage (procollagen type III N-terminal peptide), and innate immunity. A single biomarker, C-C motif chemokine ligand 22, was lower in immunocompromised subjects with and without stem cell transplant.Conclusions and relevanceImmunocompromised children with acute respiratory distress syndrome were characterized by elevations in pro-inflammatory and endothelial damage biomarkers. Our study provides insight into mechanisms underlying the molecular heterogeneity of this population and potentially identifies targetable pathways to mitigate their increased mortality risk.

Project description:Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). Up to 10% of individuals with PTENMUT CS, CS-like syndrome, or BRRS have germline SDHx (succinate dehydrogenase, mitochondrial complex II) variants, which modify cancer risk. PTEN contributes to metabolic reprogramming; this is a well-established role in a cancer context. Relatedly, SDH sits at the crossroad of the electron transport chain and tricarboxylic acid (TCA) cycle, two central bioenergetic pathways. Intriguingly, PTENMUT and SDHMUT individuals have reduced SDH catalytic activity, resulting in succinate accumulation; this indicates a common genotype-independent biochemical alteration. Here, we conducted a TCA targeted metabolomics study on 511 individuals with CS, CS-like syndrome, or BRRS with various genotypes (PTEN or SDHx, mutant or wild type [WT]) and phenotypes (cancer or ASD) and a series of 187 population controls. We found consistent TCA cycle metabolite alterations in cases with various genotypes and phenotypes compared to controls, and we found unique correlations of individual metabolites with particular genotype-phenotype combinations. Notably, increased isocitrate (p = 1.2 × 10-3), but reduced citrate (p = 5.0 × 10-4), were found to be associated with breast cancer in individuals with PTENMUT/SDHxWT. Conversely, increased lactate was associated with neurodevelopmental disorders regardless of genotype (p = 9.7 × 10-3); this finding was replicated in an independent validation series (n = 171) enriched for idiopathic ASD (PTENWT, p = 5.6 × 10-4). Importantly, we identified fumarate (p = 1.9 × 10-2) as a pertinent metabolite, distinguishing individuals who develop ASD from those who develop cancer. Our observations suggest that TCA cycle metabolite alterations are germane to the pathobiology of PTEN-related CS and BRRS, as well as genotype-independent ASD, with implications for potential biomarker and/or therapeutic value.

Dataset Information

Savant syndrome has a distinct psychological profile in autism.

Publications

Savant syndrome has a distinct psychological profile in autism.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets