Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A () syndrome.

Introduction: , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups.

Exploring aperiodic activity in first episode schizophrenia spectrum psychosis: A resting-state EEG analysis.

Abnormalities in brain oscillatory patterns have long been observed in schizophrenia and psychotic disorders more broadly. However, far less is known about aperiodic neural activity in these disorders, which has been linked to excitation/inhibition balance and neuronal population spiking within the brain. Here, we analysed resting-state electroencephalographic (EEG) recordings from 43 first episode schizophrenia spectrum psychosis (FESSP) patients and 28 healthy controls to examine whether aperiodic activity is disrupted in FESSP.