Abstract
15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We assessed the ability of the EEG analysis algorithm Brain Network Analysis (BNA) to measure cognitive function in 15q13.3 deletion patients, and to differentiate between patient and control groups. EEG data was collected from 10 individuals with 15q13.3 microdeletion syndrome (14–18 years of age), as well as 30 age-matched healthy controls, as the subjects responded to Auditory Oddball (AOB) and Go/NoGo cognitive tasks. It was determined that BNA can be used to evaluate cognitive function in 15q13.3 microdeletion patients. This analysis also significantly differentiates between patient and control groups using 5 scores, all of which are produced from ERP peaks related to late cortical components that represent higher cognitive functions of attention allocation and response inhibition (P < 0.05).
Highlights
15q13.3 microdeletion syndrome represents one of many genetic disorders, resulting in a variable neuropsychiatric phenotype, with diagnoses including developmental disability/intellectual disability (DD/ID) (56–58%), epilepsy/seizures (28%), autism spectrum disorder (ASD) (11–44%), schizophrenia (10%), and attention deficit hyperactivity disorder (ADHD) (7%) (Lowther et al, 2015; Ziats et al, 2016)
The mean intra-individual event-related potentials (ERPs) variability (ERPv) scores were higher in 15q13.3 deletion patients for all stimuli in both the Auditory Oddball (AOB) and the Go/NoGo tasks, reflecting perturbation in the patients’ electrophysiological activity (Table 4)
Based on the data presented, we conclude that Brain Network Analysis (BNA) analysis of EEG data collected from individuals with 15q13.3 microdeletion syndrome during the performance of AOB and Go/NoGo tasks provides an objective assessment of cognitive functions
Summary
15q13.3 microdeletion syndrome represents one of many genetic disorders, resulting in a variable neuropsychiatric phenotype, with diagnoses including developmental disability/intellectual disability (DD/ID) (56–58%), epilepsy/seizures (28%), autism spectrum disorder (ASD) (11–44%), schizophrenia (10%), and attention deficit hyperactivity disorder (ADHD) (7%) (Lowther et al, 2015; Ziats et al, 2016). Aberrations in CHRNA7 have been shown to result in an early sensory auditory (P50) inhibitory deficit, with no repetition suppression observed, representing the loss of normal inhibition of an auditory evoked potential (Freedman et al, 1997; Martin et al, 2007; Ross et al, 2013; Sinkus et al, 2015) This deficit reflects a reduced ability of the brain to filter sensory stimuli and inhibit neural responses to insignificant or repetitive stimuli, likely contributing to the neuropsychiatric phenotype observed in 15q13.3 microdeletion patients. The reference-group database covers the age-range 12–85
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