IMPACT-Ready Study

The ARIA IMPACT-Ready Study aims to better understand and measure how autism and related neurodevelopmental conditions develop and change over time. What we learn may help improve future research and treatments. Eligibility criteria is children ages 0-18 years who have a pathogenic or likely pathogenic variant in ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest AND children ages 2-18 years who have likely profound or profound autism with no known genetic cause and use few or no words to communicate (are minimally verbal or non-verbal), with significant cognitive impairments. Participation lasts up to 2 years, and depending on the child's age, it involves 1 to 5 study visits. Each visit will last between 5-8 hours and may be split over 2 to 3 days, if needed. During the study, participants will: * Provide a blood or cheek swab sample for whole genome sequencing (WGS). The blood or cheek sample is also required from biological parents, if available. * Complete physical and neurological exams * Participate in play-based activities and surveys to better understand cognitive (IQ), behavioral, and developmental skills. * Participate in studies to examine biomarkers of brain function, such as electroencephalography and eye tracking * Wear a smartwatch, an EEG headband, and have a thin mat placed under their mattress to monitor their sleep at home for 3 nights. * Parents will also be asked questions about their child's family and medical history. Families receive a detailed behavioral report, genetic testing results and $250 for each completed visit. Reasonable travel costs will be covered.