Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
One in five kids with FASD also carries copy-number variants—add array-CGH or SNP-array to your FASD work-up.
01Research in Context
What this study did
Doctors on Reunion Island looked back at medical charts for 101 children and teens who already had a fetal alcohol spectrum disorder (FASD) diagnosis.
They ran a high-resolution genetic test called array-CGH on every child to hunt for extra or missing chunks of DNA called copy-number variants (CNVs).
What they found
Twenty-one of the 101 kids carried at least one CNV that could help explain their learning or behavior problems.
That is about one in five—similar to the hit rate seen in autism and intellectual-disability clinics.
How this fits with other research
The 20% yield matches Palka Bayard de Volo et al. (2021) in Italy, who found CNVs in 22% of 343 patients with ID/ASD using the same microarray tool.
It also lines up with Al-Mamari et al. (2015), where 27% of autism patients in a consanguineous population showed CNVs—supporting routine screening across neurodevelopmental groups.
Older work like Estécio et al. (2002) used lower-resolution karyotype tests and saw fewer findings, so the new data basically supersedes those earlier, less-sensitive numbers.
Why it matters
If you assess kids with prenatal alcohol exposure, add array-CGH or SNP-array to your referral list. Picking up a CNV can clarify prognosis, alert you to hidden medical issues, and give the family a concrete genetic answer. The test is now standard for autism and ID; this paper shows FASD deserves the same routine check.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Add "order microarray-CGH" to your FASD assessment checklist today.
02At a glance
03Original abstract
<h4>Background</h4>Fetal Alcohol Spectrum Disorders (FASD) are the most common cause of neurocognitive impairment and social inadaptation, affecting 1 birth in 100. Despite the existence of precise diagnostic criteria, the diagnosis remains difficult, often confounded with other genetic syndromes or neurodevelopmental disorders. Since 2016, Reunion Island has been a pilot region for the identification, diagnosis, and care of FASD in France.<h4>Objective</h4>To evaluate the prevalence and the types of Copy Number Variations (CNV) in FASD patients.<h4>Methods</h4>A retrospective chart review of 101 patients diagnosed with FASD in the Reference Center for developmental anomalies and in the FASD Diagnostic Center of the University Hospital was performed. Records of all patients were reviewed to obtain their medical history, family history, clinical phenotype, and investigations, including genetic testing (CGH- or SNP-array).<h4>Results</h4>A rate of 20.8% (n = 21) of CNVs was found including 57% (12/21) of pathogenic variants and 29% (6/21) of variants of uncertain signification (VUS).<h4>Conclusion</h4>A particularly high number of CNVs was found in children and adolescents with FASD. It reinforces the plea for a multidisciplinary approach for developmental disorders to explore both environmental factors, such as avoidable teratogens and intrinsic vulnerabilities, especially genetic determinants.
, 2023 · doi:10.3390/children10040694