ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Autism Spectrum Disorder Clinical Trial

Official title: The Seaver Autism Center for Research and Treatment - Assessment Core

Status Recruiting

Clinical Trial Summary

ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP syndrome is characterized by intellectual disability and global developmental delay. This study seeks to characterize ADNP-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.

Clinical Trial Description

Subjects with a variant in the ADNP gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics. ;

Related Conditions & MeSH terms

• ADNP
• Autism Spectrum Disorder
• Autistic Disorder
• Helsmoortel-Van Der Aa Syndrome
• Syndrome

• NCT number: NCT03718936
• Study type: Observational
• Source: Icahn School of Medicine at Mount Sinai
• Contact: Tess Levy
• Phone: 212-241-5290
• Email: tess.levy@mssm.edu
• Status: Recruiting
• Start date: November 14, 2017
• Completion date: March 2026