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Rett Syndrome Real World Data Observational Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with t…
A Multinational, Multicenter Study With an Open-Label Phase 1b and a Randomized, Double-Blind, Placebo-Controlled Phase 3 Followed by an Open-Label Extension to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Radiprodil in Participants With GRIN-Related Neurodevelopmental Disorder
The Phase 3 portion of Study RAD-GRIN-101 is a multinational, multicenter, randomized, double-blind, placebo-controlled trial followed by an open-label extensi…
Diagnosis of Childhood-onset Behavioral Disorders, Neuropsychiatric Disorders and Neurodevelopmental Disorders
Background: \- Many psychiatric, behavioral, and developmental disorders are genetic. This means that they tend to run in families. Some begin in childhood, w…
Reciprocal Innovation to Optimize Low-Tech Augmentative and Alternative Communication (AAC) for Individuals With Complex Communication Needs and Their Caregivers
Many people with autism and other developmental conditions have difficulty speaking or do not use speech and need other ways to communicate. Augmentative and a…
Electrophysiologic Sleep Phenotyping and Sleep-Dependent Neuro-maturation in Clinical and Healthy Pediatric Populations
Background: During the first few decades of life, the brain changes dramatically in shape and function. Sleep lets researchers measure these changes. Research…
Online Evaluation of the Diagnostic Accuracy of BlinkLab's Digital Assessments for Autism
This observational study aims to evaluate how patterns of behavioral and sensorimotor responses measured using the BlinkLab Dx1 smartphone application relate t…
Autism Word Learning and Infant Directed-Speech
The overall objective of this research is to determine whether parentese delivered in the video format (Aim 1) and in live interaction (Aim 2) facilitates nove…
Automated Assessment of Neurodevelopment in Infants at Risk for Motor Disability
Early childhood detection of motor delays or impairments provides the opportunity for early treatment which improves health outcomes. This study will use state…
Spontaneous Motor-voice Assessment in Infants Using Video and Audio Recordings.
The goal of this observational study is to discover features of normal and disordered motor-voice profiles that are biobehavioral markers of physical disabilit…
Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medi…
Impact of the Hospital to Home: Optimizing Preterm Infant Environment (H-HOPE) Intervention on Infants With Congenital Defects Requiring Neonatal Surgery and Their Parents.
Infants born with congenital defects may require major surgery in the neonatal period. These infants are at risk for neurodevelopmental impairments. Additional…
Virtual Platforms for Genetics Evaluation in the Medically Underserved
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagen…