The Seaver Autism Center for Research and Treatment - Assessment Core
概览
- 阶段
- 不适用
- 干预措施
- 未指定
- 疾病 / 适应症
- DDX3X
- 发起方
- Icahn School of Medicine at Mount Sinai
- 入组人数
- 15
- 试验地点
- 2
- 主要终点
- Autism Diagnostic Observation Schedule (ADOS)
- 状态
- 已完成
- 最后更新
- 23天前
概览
简要总结
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.
详细描述
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.
研究者
Alexander Kolevzon
Professor
Icahn School of Medicine at Mount Sinai
入排标准
入选标准
- •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.
排除标准
- 未提供
结局指标
主要结局
Autism Diagnostic Observation Schedule (ADOS)
时间窗: 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.
次要结局
- Mullen Scales of Early Learning(Day 1)
- Autism Diagnostic Interview - Revised (ADI-R)(Day 1)
- Stanford-Binet Intelligence Scales(Day 1)
- Differential Ability Scales (DAS)(Day 1)