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

NCT03718910 | Completed

• 1 other identifier: GCO 98-436 - B
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

DDX3X; Autism Spectrum Disorder; Mental Retardation, X-linked 102

Keywords

DDX3X; Intellectual Disability; Global Developmental Delay; Neurodevelopmental Deficits; Developmental Disability

Outcome Measures

Primary Outcomes (1)

• Autism Diagnostic Observation Schedule (ADOS)

  The ADOS is a structured, play-based assessment of communication, social interaction and behavior in individuals (children and adults) suspected of having a diagnosis of Autism Spectrum Disorder. The examiner will select 1 of 4 different ADOS modules, which differ based on chronological age and verbal fluency, to use for the individual being assessed. An Overall Total score \>= 16, if the individual meets for the "few to no words" algorithm, or 12, if the individual meets for the "some words" algorithm, suggests autism in the individual. An Overall Total score of 11 to 15, if the individual meets for the "few to no words" algorithm, or 8 to 11, if the individual meets for the "some words" algorithm, suggests the individual is on the autism spectrum. An Overall Total score equal to or lower than 10, if the individual meets for "few to no words" algorithm, or 7, if the individual meets for the "some words" algorithm, classifies the individual as "non-spectrum" or not on the spectrum.

  Day 1

Secondary Outcomes (4)

• Autism Diagnostic Interview - Revised (ADI-R)

  Day 1

• Stanford-Binet Intelligence Scales

  Day 1

• Differential Ability Scales (DAS)

  Day 1

• Mullen Scales of Early Learning

  Day 1

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals for this cohort study will be selected from any population, provided that they have a variant in the DDX3X gene and meet eligibility requirements.

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead

Study Sites (1)

The Seaver Autism Center for Research and Treatment

New York, New York, 10029, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood and/or saliva samples from research participants who consent to giving biological specimens for research genetics may be retained with potential for extraction of DNA. Blood samples may be used to create Induced Pluripotent Stem Cells (iPSCs).

MeSH Terms

Conditions

Intellectual Disability; Autism Spectrum Disorder; Learning Disabilities; Developmental Disabilities

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders; Child Development Disorders, Pervasive; Communication Disorders

Study Officials

• Dorothy Grice, M.D.

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Silvia De Rubeis, Ph. D.

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Alexander Kolevzon, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: October 23, 2018
• First Posted: October 25, 2018
• Study Start: May 23, 2018
• Primary Completion: June 1, 2020
• Study Completion: June 1, 2020
• Last Updated: April 9, 2026

Record last verified: 2026-04

Locations

US (1)