This observational study aims to better understand ADNP syndrome, a rare genetic disorder affecting brain development. Researchers are studying individuals with a confirmed change (variant) in the ADNP gene to learn more about how it affects development and behavior. The study will involve various assessments, including developmental, behavioral, and medical evaluations, to characterize the features of ADNP-related neurodevelopmental disorders. You may be able to join if you are at least 2 years old and have a documented pathogenic ADNP gene variant. The main goal is to measure the severity of autism symptoms using a tool called the Autism Diagnostic Observation Schedule (ADOS) on the first day of assessments. The current recruitment status is unclear, and the study plans to enroll 30 participants.

Study design

This is an observational study, meaning it involves watching and collecting information without providing a specific treatment. It plans to enroll 30 participants.

What's involved

Participants will undergo a series of developmental, behavioral, and medical assessments over a three-day period. This includes interviews, psychiatric and neurology evaluations, a genetic evaluation, and sensory assessments like an EEG and eye-tracking. Family members will also provide blood or saliva samples.

Compensation

Not stated in the trial record.

Follow-up

The primary endpoint, the Autism Diagnostic Observation Schedule (ADOS), is measured at Day 1. Further follow-up is not specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.