Dissecting the Genetics of Fetal Alcohol Spectrum Disorders
Condition: Fetal Alcohol Spectrum Disorders
MeSH terms: Fetal Alcohol Spectrum Disorders
Study type: Observational

Summary: 
      The purpose of this study is to help scientists understand why some people who were exposed
      to alcohol in the womb have special facial features but other people do not. This study will
      test if genetics (or DNA) explains these differences. We hope this will help improve
      treatments and interventions for people with fetal alcohol spectrum disorders (FASD).

      Participants in this study (or their parents or legal guardians) will be asked to:

        -  Answer some questions about themselves. These questions ask about their demographic
           background (such as gender, race, ethnicity, income, and education), their health
           history, and their mother's health during her pregnancy with them (if that information
           is known).

        -  Speak with study staff briefly by phone or video chat to confirm enrollment in the study
           and ask any questions they have.

        -  Take photographs of their face.

        -  Provide a saliva sample for genetic research.

      Participants can complete the study at home from anywhere in the world. The questions can be
      answered online, over the phone, or on paper. Adopted families are welcome to enroll. The
      study pays for all shipping costs.
    

Detailed description: 
      Fetal Alcohol Syndrome (FAS) typically involves poor growth for age, particular facial
      characteristics, and cognitive deficiencies. Although FAS was first described in the
      literature over 40 years ago, significant challenges remain in the development of rapid and
      efficient approaches to identify individuals who were prenatally exposed to alcohol. Further,
      no widely available effective interventions or treatments to improve the long term outcomes
      of individuals with FAS and related disorders (collectively known as Fetal Alcohol Spectrum
      Disorders or FASD) exist, despite the high prevalence (as high as 33.5 per 1,000 in some
      communities) of FASD across the United States.

      The Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD) seeks to address
      critical issues related to earlier and improved recognition of FASD, identify biomarkers of
      exposure, and elucidate the genetic risk factors contributing to FASD risk and resilience by
      conducting multidisciplinary projects and maintaining cooperative resources. This project is
      part of CIFASD's ongoing efforts and will specifically address the elucidation of genetic
      factors that contribute to risk and resilience in FASD.

      Prior work with animal models of FASD have identified genetic variants that contribute to
      alterations in facial morphology after exposure to alcohol during embryonic development
      (McCarthy et al., 2013). Prenatal alcohol exposure also activates immune pathway genes in
      animal models. The identification of these genetic factors suggest that genetic variation may
      similarly contribute to differences in response to prenatal alcohol exposure in humans. The
      goal of this project is to identify genetic variants that protect against or increase the
      effects of prenatal alcohol exposure in humans.
    

Intervention name(s): No intervention
Intervention type(s): Other
Intervention description(s): This study does not involve any interventions.
Observational model: Cohort
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        Individuals with FASD or prenatal alcohol exposure will be recruited throughout the world.
      
Biospecimen description: 
      saliva whole blood
    
Keywords: Fetal Alcohol Syndrome; Alcohol Related Neurodevelopmental Disorder; Alcohol-Related Birth Defects; FAE (Fetal Alcohol Effects); FASD; Partial Fetal Alcohol Syndrome; ND-PAE; Prenatal Alcohol Exposure; fetal exposure to ethanol during pregnancy; FAS