DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
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|ClinicalTrials.gov Identifier: NCT03718910|
Recruitment Status : Recruiting
First Posted : October 25, 2018
Last Update Posted : February 10, 2020
|Condition or disease|
|DDX3X Mental Retardation, X-linked 102 Autism Spectrum Disorder|
|Study Type :||Observational|
|Estimated Enrollment :||10 participants|
|Official Title:||The Seaver Autism Center for Research and Treatment - Assessment Core|
|Actual Study Start Date :||May 22, 2018|
|Estimated Primary Completion Date :||May 2020|
|Estimated Study Completion Date :||May 2020|
- Autism Diagnostic Observation Schedule (ADOS) [ Time Frame: Day 1 ]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.
- Autism Diagnostic Interview - Revised (ADI-R) [ Time Frame: Day 1 ]The ADI-R is a standardized, semi-structured clinical assessment used to diagnose Autism Spectrum Disorder (ASD) in children and adults. The ADI-R is a structured interview administered by an examiner to the primary caregiver of children and adults suspected of having ASD. The assessment contains 93 items, scored from 0 (behavior not present) to 279 (severe or frequent behavior), A higher assessment score indicates poorer outcomes.
- Stanford-Binet Intelligence Scales [ Time Frame: Day 1 ]The Stanford-Binet Intelligence Scales are a cognitive assessment measuring the five factors of fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing and working memory. The number of correct responses for the subtests is converted to a Standard Age Score, based on the chronological age of the individual being assessed. The Area Scores and Test Composite on the Stanford-Binet test have an average score of 100 and a standard deviation of 16. The converted score of the individual being assessed indicates where he/she is relative to the norm. A score exceeding 145 is classified as "Genius or near genius," and scores below 70 are classified as "Borderline deficiency."
- Differential Ability Scales (DAS) [ Time Frame: Day 1 ]The DAS is a battery of cognitive and achievement testing for children 2.5-18 years old that is divided into Early Years and School-Age versions. The 20 subtests of the DAS are broken up into 17 cognitive and 3 achievement subtests. The scores of the test are categorized into i) General Conceptual Ability (GCA) which is based on the ability of the individual being assessed to perform complex mental processing involving transformation of information ii) cluster scores that indicate verbal, spatial and nonverbal reasoning abilities and iii) subtest scores that represent specific abilities or processes. The tests yield t-scores and percentiles by age.
- Mullen Scales of Early Learning [ Time Frame: Day 1 ]The Mullen Scales of Early Learning are a clinical assessment used to measure cognitive ability and motor development in children ages 0-68 months on the five scales of Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. T-scores, percentile rankings, and age equivalents can be calculated for each of these five scales.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03718910
|Contact: Lara Tang, B.A.||firstname.lastname@example.org|
|Contact: Tess Levyemail@example.com|
|Principal Investigator:||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|