Fetal Alcohol Spectrum Disorder (FASD): Clinical Description and Search for Epigenetic Biomarkers for Diagnostic Purposes.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 188
- 试验地点
- 2
- 主要终点
- Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)
研究概览
简要总结
The goal of this clinical trial is to carry out a clinical description of a Reunionese series of patients (aged 0 to 18 inclusive) with Fetal Alcohol Spectrum Disorders followed up in the Genetics Department of the University Hospital in Reunion Island The aim is also to identify a specific "epigenetic signature" for Fetal Alcohol Spectrum Disorder, in order to provide early diagnostic markers, determine the origin of the microRNAs identified and study the phenotypic-epigenetic relationship (microRNAs).
This research is descriptive and monocentric.
- retrospective on the clinical description of 182 Fetal Alcohol Spectrum Disorderpatients
- prospective on the microRNAs part, with 18 patients in the Fetal Alcohol Spectrum Disorder group and 18 in the control group (participants without Fetal Alcohol Spectrum Disorder).
For the 18 patients in the Fetal Alcohol Spectrum Disorder group, the doctor will take a blood sample (for genetic testing) during a scheduled consultation. A remaining 4 ml of blood will be collected for research purposes (Fetal Alcohol Spectrum Disorder group only). A buccal smear will also be taken for research.
For the 18 participants in the control group (healthy participants of the same age and sex as the Fetal Alcohol Spectrum Disorder group), only a buccal smear will be taken for research purposes during a consultation.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Fetal Alcohol Spectrum Disorder group :
- •born in Reunion
- •aged between 0 and 18 years old
- •Having been exposed to alcohol during the prenatal period
- •Have a diagnosis of Fetal Alcohol Spectrum Disorder by a referring physician
- •Control group :
- •born in Réunion
- •aged between 0 and 18 years old
- •Be matched on the age and sex of the Fetal Alcohol Spectrum Disorder children sampled (n=18)
- •Not having been exposed to alcohol during the prenatal period
- •Not having been diagnosed with FASD
- •Not have congenital malformations
- •Not have neurodevelopmental disorders
排除标准
- •Fetal Alcohol Spectrum Disorder group :
- •patients with Fetal Alcohol Spectrum Disorder who also present another genetic syndrome.
- •Control group :
- •people who are not matched on the age and sex of the Fetal Alcohol Spectrum Disorder patients sampled
结局指标
主要结局
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)
时间窗: 6 months
Description of : * maternal alcohol consumption in the prenatal period and paternal alcohol consumption in the preconception period : * duration (in month) * type (Beer, wine, strong alcohol, Multiple) * frequency (DAILY/ WEEK/ WEEKEND/ FESTIVAL-OCCASIONAL/ SINGLE EPISODE ) * stage of exposure (Trimester : 1/2/ ≤ 2 /3/≤ 3) * other associated toxicants : tobacco, cannabis, medications (Yes/ no/ suspicion) * the course of the pregnancy and childbirth : * age of the mother (in years) * term of delivery (FULL-TERM/ MEDIUM PREMATURITY/ HIGH PREMATURITY/ VERY HIGH PREMATURITY) * trimester of discovery of the pregnancy (trimester : 1, 2, 3) * socio-family data * family situation (ADOPTION/ MOTHER/ PARENTS/ FATHER) * type of placement (FOSTER FAMILY/ HOME/ ADOPTIVE FAMILY/ THIRD PARTY/ NURSERY) * age of placement (in years)
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part2)
时间窗: 6 months
Description of : * data from the medical and genetic assessment * congenital malformations (Yes/ No) * hearing assessment (Normal/ abnormal), * Chromosome analysis on a DNA chip (Normal/ abnormal), * fragile X (Normal/ abnormal) * data from the neuropsychological and psychomotor assessment * psychomotor delay (Yes/ No) * motor impairments (Yes/ No) * intellectual disability (Yes/ No) (IQ Value) * cognitive impairments (VERY WEAK/ LIMITED/ MEDIUM WEAK/ MEDIUM/ MEDIUM STRONG/ SUPERIOR/ VERY SUPERIOR) * oral language, executive functions, behavioral abnormalities (alter/preserve), * data from paraclinical examinations : * kidney ultrasound, cardiac ultrasound, Magnetic Resonance Imaging (Nomal/ Abnormal)
次要结局
未报告次要终点