DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Phase

N/A

Condition

Asperger's Disorder

Sjögren-larsson Syndrome

Learning Disorders

Treatment

N/A

Clinical Study ID

NCT03718910

GCO 98-436 - B

Ages > 2
All Genders

Study Summary

DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in females, making it one of the more common causes of intellectual disability.This study seeks to characterize DDX3X-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.

Eligibility Criteria

Inclusion

Inclusion Criteria:

Eligible participants must have a documented variant affecting the DDX3X gene that theresearch team determines to be likely or definitely pathogenic.
Eligible participants must be at least 2 years of age.

Exclusion

Exclusion Criteria:

None

Study Design

May 22, 2018

May 31, 2026

Study Description

Subjects with a variant in the DDX3X 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.

Connect with a study center

The Seaver Autism Center for Research and Treatment
New York, New York 10029
United States
Active - Recruiting

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