DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Psychiatric, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology |
| Healthy: | No |
| Age Range: | 2 - Any |
| Updated: | 10/27/2018 |
| Start Date: | May 22, 2018 |
| End Date: | May 2020 |
| Contact: | Lara Tang, B.A. |
| Email: | lara.tang@mssm.edu |
| Phone: | 212-241-2993 |
The Seaver Autism Center for Research and Treatment - Assessment Core
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.
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.
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.
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.
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:
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