This study aims to identify novel biomarkers for epilepsy development in children with autism and to evaluate the effects of physical exercise on these biomarkers and clinical outcomes. Very little is known about epilepsy biomarkers in children with autism, and the risk of developing epilepsy in this population ranges from 5% to 47%. The project focuses on potential signaling pathways, including immunological factors, synaptic proteins, circadian rhythm genes, sleep architecture, and cognitive function. Children with autism, with or without epilepsy, as well as children with epilepsy, will undergo genetic analyses (exome sequencing) of synaptic and circadian rhythm-related genes, immunological protein profiling, EEG or polysomnography, actigraphy, neuropsychological testing, and physical assessments including coordination, balance, and body awareness. Participants will also engage in a three-month structured physical exercise program. Follow-up assessments will examine the effects of exercise on seizure frequency, biomarker expression, sleep, cognition, and physical abilities. The study addresses two key research questions: 1) whether biomarkers and physiological measures correlate with seizure occurrence in children with autism, and 2) whether regular physical activity can modulate seizure frequency, biomarker expression, circadian rhythm, sleep, cognitive performance, and physical skills. The findings are expected to improve understanding of the mechanisms underlying epilepsy in autism and inform potential interventions.
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Blood sample collection for genetic and protein analyses
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Actigraphy to evaluate sleep-wake patterns: Sleep latency (minutes)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Actigraphy to evaluate sleep-wake patterns: Assumed sleep (hours)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Actigraphy to evaluate sleep-wake patterns: Fragmentation Index (index units)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Actigraphy to evaluate sleep-wake patterns: Wake Bouts (seconds)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Actigraphy to evaluate sleep-wake patterns: Total Activity Score (score units)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Autism Spectrum Screening Questionnaire (ASSQ)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Behavior Rating Inventory of Executive Function , Second Edition (BRIEF-2)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Child Sensory Profile (CSP)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Social Responsiveness Scale (SRS)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Strengths and Difficulties Questionnaire (SDQ)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline
Swanson, Nolan, and Pelham 26-item Rating Scale (SNAP-IV)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Cognitive testing with CANTAB: Intra-Extra Dimensional Set Shift (IED)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Cognitive testing with CANTAB: Paired Association Learning (PAL)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Cognitive testing with CANTAB: Reaction Time (RTI)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Cognitive testing with CANTAB: Stockings of Cambridge (SOC)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Cognitive testing with CANTAB: Spatial Working Memory (SWM)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Evaluation of the intervention
Timeframe: After completion of the intervention, within 6 months from baseline.
Sleep Electroencephalogram (EEG): Posterior Dominant Rhythm (Hz)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Sleep Electroencephalogram (EEG): Interictal epileptiform activity (IEA)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.
Sleep Electroencephalogram (EEG): Sleep Spindles (counts)
Timeframe: Will be conducted at baseline (time of enrollment) and again 1-3 months after completion of the physical exercise intervention, within 6 months from baseline.