Fetal Alcohol Spectrum Disorder : Clinical Description and Search for Epigenetic Biomarker (EPI-TSAF)

Centre Hospitalier Universitaire de la Réunion188 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

188

Conditions

Fetal Alcohol Spectrum Disorders

Interventions

Extraction of microRNAs extracted from plasma (4 ml recovered as part of treatment)DIAGNOSTIC_TEST

Comparison of these micro RNAs with the micro RNAs extracted from oral swabs (in Fetal Alcohol Spectrum Disorder group)

Extraction of microRNAs extracted from bucal swabs (act added for research).DIAGNOSTIC_TEST

Comparison of the microRNAs extracted from the oral swabs of the Fetal Alcohol Spectrum Disorder group with the microRNAs extracted from the oral swabs of the without Fetal Alcohol Spectrum Disorder group

Eligibility

Sex: ALLMin age: 1 YearMax age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: 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 Exclusion Criteria: 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

Outcomes

Primary Outcomes

Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)

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)

Time frame: 6 months

Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part2)

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)