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- Hollestein, V, et al.
(författare)
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Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure
- 2023
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 13:1, s. 18-
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Tidskriftsartikel (refereegranskat)abstract
- The excitatory/inhibitory (E/I) imbalance hypothesis posits that imbalance between excitatory (glutamatergic) and inhibitory (GABAergic) mechanisms underlies the behavioral characteristics of autism. However, how E/I imbalance arises and how it may differ across autism symptomatology and brain regions is not well understood. We used innovative analysis methods—combining competitive gene-set analysis and gene-expression profiles in relation to cortical thickness (CT) to investigate relationships between genetic variance, brain structure and autism symptomatology of participants from the AIMS-2-TRIALS LEAP cohort (autism = 359, male/female = 258/101; neurotypical control participants = 279, male/female = 178/101) aged 6–30 years. Using competitive gene-set analyses, we investigated whether aggregated genetic variation in glutamate and GABA gene-sets could be associated with behavioral measures of autism symptoms and brain structural variation. Further, using the same gene-sets, we corelated expression profiles throughout the cortex with differences in CT between autistic and neurotypical control participants, as well as in separate sensory subgroups. The glutamate gene-set was associated with all autism symptom severity scores on the Autism Diagnostic Observation Schedule-2 (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R) within the autistic group. In adolescents and adults, brain regions with greater gene-expression of glutamate and GABA genes showed greater differences in CT between autistic and neurotypical control participants although in opposing directions. Additionally, the gene expression profiles were associated with CT profiles in separate sensory subgroups. Our results suggest complex relationships between E/I related genetics and autism symptom profiles as well as brain structure alterations, where there may be differential roles for glutamate and GABA.
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- Pinto, Dalila, et al.
(författare)
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Functional impact of global rare copy number variation in autism spectrum disorders.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372
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Tidskriftsartikel (refereegranskat)abstract
- The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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- Bartl-Pokorny, K. D., et al.
(författare)
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Eye Tracking in Basic Research and Clinical Practice
- 2013
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Ingår i: Klinische Neurophysiologie. - : Georg Thieme Verlag KG. - 1434-0275 .- 1439-4081. ; 44:3, s. 193-198
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Tidskriftsartikel (refereegranskat)abstract
- Eye tracking is a non-invasive technique based on infrared video technology that is used to analyse eye movements. Such analyses might provide insights into perceptual and cognitive capacities. It is a method widely used in various disciplines, such as ophthalmology, neurology, psychiatry and neuropsychology for basic science, but also clinical practice. For example, recent studies on children who were later diagnosed with autism spectrum disorders revealed early abnormal eye movement patterns in socio-communicative settings; children with dyslexia appeared also to have peculiar eye movement patterns, expressed in longer fixation durations and smaller saccades while reading. Current research using eye tracking systems in combination with neurophysiological and brain imaging techniques will add to a better understanding of cognitive, linguistic and socio-communicative development and in the near future possibly also lead to a broader clinical application of this method.
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- Black, Melissa H., et al.
(författare)
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The use of wearable technology to measure and support abilities, disabilities and functional skills in autistic youth: a scoping review
- 2020
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Ingår i: Scandinavian Journal of Child and Adolescent Psychiatry and Psychology. - : EXELEY INC. - 2245-8875. ; 8, s. 48-69
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Forskningsöversikt (refereegranskat)abstract
- Background: Wearable technology (WT) to measure and support social and non-social functioning in Autism Spectrum Disorder (ASD) has been a growing interest of researchers over the past decade. There is however limited understanding of the WTs currently available for autistic individuals, and how they measure functioning in this population. Objective: This scoping review explored the use of WTs for measuring and supporting abilities, disabilities and functional skills in autistic youth. Method: Four electronic databases were searched to identify literature investigating the use of WT in autistic youth, resulting in a total of 33 studies being reviewed. Descriptive and content analysis was conducted, with studies subsequently mapped to the ASD International Classification of Functioning, Disability and Health Core-sets and the ICF Child and Youth Version (ICF-CY). Results: Studies were predominately pilot studies for novel devices. WTs measured a range of physiological and behavioural functions to objectively measure stereotypical motor movements, social function, communication, and emotion regulation in autistic youth in the context of a range of environments and activities. Conclusions: While this review raises promising prospects for the use of WTs for autistic youth, the current evidence is limited and requires further investigation.
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