Prior studies show that neurofeedback training (NFT) of mu rhythms improves behavior and EEG mu rhythm suppression during action observation in children with autism spectrum disorder (ASD). However, intellectually impaired persons were excluded because of their behavioral challenges. We aimed to determine if intellectually impaired children with ASD, who were behaviorally prepared to take part in a mu-NFT study using conditioned auditory reinforcers, would show improvements in symptoms and mu suppression following mu-NFT. Seven children with ASD (ages 6-8; mean IQ 70.6 ± 7.5) successfully took part in mu-NFT. Four cases demonstrated positive learning trends (hit rates) during mu-NFT (learners), and three cases did not (non-learners). Artifact-creating behaviors were present during tests of mu suppression for all cases, but were more frequent in non-learners. Following NFT, learners showed behavioral improvements and were more likely to show evidence of a short-term increase in mu suppression relative to non-learners who showed little to no EEG or behavior improvements. Results support mu-NFT's application in some children who otherwise may not have been able to take part without enhanced behavioral preparations. Children who have more limitations in demonstrating learning during NFT, or in providing data with relatively low artifact during task-dependent EEG tests, may have less chance of benefiting from mu-NFT. Improving the identification of ideal mu-NFT candidates, mu-NFT learning rates, source analyses, EEG outcome task performance, population-specific artifact-rejection methods, and the theoretical bases of NFT protocols, could aid future BCI-based, neurorehabilitation efforts.
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Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address:
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.
View Article and Find Full Text PDFCureus
January 2025
Department of Research, Department of Regenerative Medicine, Rinaldi Fontani Foundation, Florence, ITA.
An 88-year-old woman presented with a longstanding history of dizziness, tremors, and progressive mental and physical decline, significantly impairing her mobility and autonomy. Recently discharged from an ICU, the patient required extensive support for daily activities. Diagnostic evaluations, including EEG and analysis, revealed irregular frequency peaks and altered cortical activity, particularly in the frontal and prefrontal regions.
View Article and Find Full Text PDFBMJ Open
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IRCCS Mondino Foundation, Pavia, Italy
Introduction: Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm.
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Child Development Unit, Children's Hospital at Westmead, Westmead, Australia.
Background: Children and adolescents with cerebral palsy (CP) commonly have behaviour problems. The present study aimed to determine which of the most common clinical features experienced by children and adolescents with CP and intellectual disability are associated with behaviour problems.
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Z Evid Fortbild Qual Gesundhwes
January 2025
Institut für Medizinmanagement und Gesundheitswissenschaften (IMG) der Universität Bayreuth, Bayreuth, Deutschland.
Introduction: Unmet health care needs are seen as a key indicator of equity in access to health care. With younger people, they can lead to poorer health outcomes in adulthood, and in older people they can be associated with an increased risk of mortality. The presence of a disability is considered a risk factor for unmet needs.
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