RecruitingNCT03718910

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

The Seaver Autism Center for Research and Treatment - Assessment Core


Sponsor

Icahn School of Medicine at Mount Sinai

Enrollment

10 participants

Start Date

May 22, 2018

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 2 Years

Inclusion Criteria2

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

Exclusion Criteria1

  • None

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Locations(1)

The Seaver Autism Center for Research and Treatment

New York, New York, United States

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NCT03718910


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