title: Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
abstract: The characteristics of fetal alcohol 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.
authors.affiliation: Department of Pediatric Genetics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Nadia
authors.initials: N
authors.lastname: Abdelmalik
authors.forename: Mieke
authors.initials: M
authors.lastname: van Haelst
authors.forename: Grazia
authors.initials: G
authors.lastname: Mancini
authors.forename: Connie
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: Dominique
authors.initials: D
authors.lastname: Marcus-Soekarman
authors.forename: Raoul
authors.initials: R
authors.lastname: Hennekam
authors.forename: Jan Maarten
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques; D009426:Netherlands / Q000453:epidemiology; D011044:Poland / Q000208:ethnology; D011247:Pregnancy; D015995:Prevalence; D012017:Referral and Consultation; D012307:Risk Factors