The Seaver Autism Center for Research and Treatment - Assessment Core Characterizing ADNP-Related Neurodevelopmental Disorders Using Genetic and Neuropsychological Measures

What this Trial Is About

ADNP syndrome, also known as Activity Dependent Neuroprotective Protein syndrome, is a rare neurodevelopmental disorder caused by mutations in the ADNP gene on chromosome 20. It is characterized by intellectual disability and global developmental delay. This observational study aims to better understand ADNP-related neurodevelopmental disorders by using various genetic, medical, and neuropsychological assessments to describe the condition comprehensively. Participants who have a confirmed variant in the ADNP gene will undergo multiple developmental, behavioral, and medical evaluations over a three-day period. Assessments include the Autism Diagnostic Observation Schedule (ADOS), parent interviews about developmental history and behavior, psychiatric and neurology evaluations, and a clinical genetic exam with physical and vital sign checks. Additionally, affected individuals and their biologically related siblings will complete sensory tests such as research EEG, visual evoked potential, and eyetracking assessments. Family members present may also be asked to provide blood or saliva samples for genetic research. During the study, participants will be involved in detailed testing including standardized intelligence scales and diagnostic interviews to measure cognitive and behavioral features. Researchers will collect data through interviews, clinical exams, and sensory tests to characterize the neurodevelopmental profile associated with ADNP variants. The primary outcome is the Autism Diagnostic Observation Schedule, with several secondary outcome measures assessing intellectual abilities. The study is led by the Icahn School of Medicine at Mount Sinai and has no maximum age limit for participation.

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