An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled.

Academic learning challenges and links to vocational outcomes in young autistic adults.

Finding a job can be hard for autistic adults. No studies have been completed that look into whether having difficulties learning and troubles finding a job are related in this population. The current study did so by evaluating the Learning Needs Screening Tool, a measure of learning challenges used in vocational rehabilitation settings, or places meant to help people find work.

Vocational Outcomes in ASD: An Examination of Work Readiness Skills as well as Barriers and Facilitators to Employment Identified by Autistic Adults.

Little is known about work readiness skills among autistic adults. This study sought to address this by examining work readiness skills and their relation to vocational outcomes among 281 autistic young adults. It also examined perceived barriers and facilitators to employment as articulated by a subset of autistic adults.

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder caused by deletion or sequence variation in the gene at terminal chromosome 22 that confers high likelihood of comorbid autism spectrum disorder (ASD). Whereas individuals with idiopathic ASD (iASD) can demonstrate diverse patterns of sensory differences, PMS is mainly characterized by sensory hyporesponsiveness. This study used electrophysiology and a passive auditory habituation paradigm to test for neural markers of hyporesponsiveness.

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.

Background: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli.

Methods: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26).

Oculomotor corollary discharge signaling is related to repetitive behavior in children with autism spectrum disorder.

Corollary discharge (CD) signals are "copies" of motor signals sent to sensory regions that allow animals to adjust sensory consequences of self-generated actions. Autism spectrum disorder (ASD) is characterized by sensory and motor deficits, which may be underpinned by altered CD signaling. We evaluated oculomotor CD using the blanking task, which measures the influence of saccades on visual perception, in 30 children with ASD and 35 typically developing (TD) children.

Investigating Motor Preparation in Autism Spectrum Disorder With and Without Attention Deficit/Hyperactivity Disorder.

This study investigated motor preparation and action-consequence prediction using the lateralized readiness potential (LRP). Motor impairments are common in autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), which commonly co-occur. Alterations in predictive processes may impact motor planning.

Reduced engagement of visual attention in children with autism spectrum disorder.

Limited eye contact and difficulty tracking where others are looking are common in people with autism spectrum disorder. It is unclear, however, whether these are specifically social differences; it is possible that they are a result of broader alterations in engaging and disengaging visual attention. We used eye-tracking technology with children with autism spectrum disorder ( = 35) and typical development ( = 32), showing them both social and nonsocial imaging to test their visual attention.

The Immersive Theater Experience for Individuals with Autism Spectrum Disorder.

Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance.