Accuracy of the diagnosis of physical features of fetal alcohol syndrome by pediatricians after specialized training

Department of Psychology, San Diego State University, San Diego, California, United States
PEDIATRICS (Impact Factor: 5.3). 01/2007; 118(6):e1734-8. DOI: 10.1542/peds.2006-1037
Source: PubMed

ABSTRACT Accurate and early diagnosis of the fetal alcohol syndrome is important for secondary prevention, intervention, and treatment, yet many pediatricians lack expertise in recognition of the characteristic features of this disorder. After a structured training program for pediatricians, we examined the ability to accurately diagnose fetal alcohol syndrome.
Two dysmorphologists conducted a 2-day training program in the diagnosis of the physical features of fetal alcohol syndrome for 4 pediatricians in Moscow. Dysmorphologists and pediatricians worked in teams to examine children, demonstrate techniques, and validate that pediatricians could identify physical features of this disorder under direct observation. Subsequently, pediatricians independently evaluated children in 41 boarding schools and orphanages. Those children diagnosed with fetal alcohol syndrome or deferred (possible fetal alcohol syndrome) by the pediatricians were then evaluated by the dysmorphologists. Accuracy of the diagnosis of fetal alcohol syndrome or deferred was assessed, as well as the interrater agreement for specific selected features of the disorder.
A total of 110 children were examined by both the pediatricians and the dysmorphologists. Of these, 79 were identified with fetal alcohol syndrome by the pediatricians; in 66 (83.5%) of these children, the diagnosis was confirmed by the dysmorphologists. Among 31 children who were classified as deferred by the pediatricians, 21 (67.7%) were confirmed with either fetal alcohol syndrome or deferred by the dysmorphologists. With respect to selected structural features characteristic of fetal alcohol syndrome, good interrater agreement was noted for height and head circumference < or = 10th centile, whereas moderate-to-fair agreement was noted for smooth philtrum, long philtrum, presence of "hockey-stick" palmar crease, and palpebral fissure length < or = 10th centile. Poor agreement was noted for thin upper lip.
After a relatively short training session, pediatricians were reasonably accurate in diagnosing fetal alcohol syndrome on the basis of physical features and in recognizing most of the selected specific features associated with the disorder.

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Available from: Christina D Chambers, Jul 21, 2015
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    • "Full Scale IQ (FSIQ) was measured using the Wechsler Intelligence Scale for Children—Fourth Edition (Wechsler, 2004). All children were evaluated using a standardized dysmorphology examination conducted by a member of the CIFASD Dysmorphology Core (for details, see Jones et al., 2006; Mattson et al., 2010). Diagnosis of FAS was based on the presence of 2 or more key facial features (short palpebral fissures, smooth philtrum , thin vermillion) and either microcephaly (head circumfer- ence 10th percentile) or growth deficiency ( 10th percentile for height or weight). "
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    • "Standardized methodology was used to obtain facial dysmorphology scores on both FASD and nonexposed subjects by a trained member of the CIFASD (Hoyme et al. 2005; Jones et al. 2006; Roussotte et al. 2011). In brief, PFL was measured using a rigid ruler marked in millimeters held against the lower eyelid (Hoyme et al. 2005). "
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