Clinical trial NCT03718910: DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Official title: The Seaver Autism Center for Research and Treatment - Assessment Core
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: DDX3X
Mental Retardation, X-linked 102
Autism Spectrum Disorder
Keywords: DDX3X
Intellectual Disability
Global Developmental Delay
Neurodevelopmental Deficits
Developmental Disability
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
First posted: 2018-10-25
Enrollment: 10
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.

Detailed 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.

Eligibility criteria: Inclusion Criteria:

* 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 Criteria:

* None

Primary outcomes:
measure: Autism Diagnostic Observation Schedule (ADOS)
timeFrame: Day 1
Secondary outcomes:
measure: Autism Diagnostic Interview - Revised (ADI-R)
timeFrame: Day 1
measure: Stanford-Binet Intelligence Scales
timeFrame: Day 1
measure: Differential Ability Scales (DAS)
timeFrame: Day 1
measure: Mullen Scales of Early Learning
timeFrame: Day 1
Other outcomes:
Locations:
city: New York
country: United States
facility: The Seaver Autism Center for Research and Treatment
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Dorothy Grice, M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Silvia De Rubeis, Ph. D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Alexander Kolevzon, MD
role: PRINCIPAL_INVESTIGATOR
References: