How to Cite this Article: Abdelmalik N, van Haelst M, Mancini G, Schrander-Stumpel C, Marcus-Soekarman D, Hennekam R, Cobben JM. 2013. Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders. Am J Med Genet Part A 161A:254–260.
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders†
Article first published online: 9 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 2, pages 254–260, February 2013
How to Cite
Abdelmalik, N., van Haelst, M., Mancini, G., Schrander-Stumpel, C., Marcus-Soekarman, D., Hennekam, R. and Cobben, J. M. (2013), Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders. Am. J. Med. Genet., 161: 254–260. doi: 10.1002/ajmg.a.35672
- Issue published online: 24 JAN 2013
- Article first published online: 9 JAN 2013
- Manuscript Accepted: 23 AUG 2012
- Manuscript Received: 28 AUG 2011
- fetal alcohol spectrum disorders;
- fetal alcohol syndrome;
- DNA micro array
The characteristics of fetal acohol spectrum disorders (FASD) constitute a specific facial phenotype, growth failure and neurodevelopmental defects. Reported FASD prevalences vary widely from 0.08 per 1,000 up to 68.0–89.2 per 1,000. We aimed to evaluate to which extent children referred with a suspicion of FASD, indeed have FASD. We included all 27 children referred to our genetic department with a suspicion of FASD between 2005 and 2010. Nineteen children (70.3%) were of non-Dutch ancestry, and 24 (88.9%) had been adopted. We used both the 4-Digit Code and the Revised Institute of Medicine criteria. More than half of the children did not meet either criteria for the diagnosis of FASD. Of note, after evaluation 8/27 children appeared not to have confirmed prenatal alcohol exposure. Two children referred for suspicion of FASD (neither of which were exposed to alcohol or met the criteria for FASD) had a pathogenic microstructural chromosomal rearrangement (del16p11.2 of 542 KB and dup1q44 of 915 KB). In 22/24 children (91.7%) there were other factors that may have affected their intellectual abilities, such as familial intellectual disability and social deprivation. We recommend a critical approach towards the diagnosis FASD, and to investigate all patients suspected to have FASD for other causative factors including genetic abnormalities. © 2013 Wiley Periodicals, Inc.