Accuracy of the Diagnosis of Fetal Alcohol Syndrome by Pediatricians after Specialized Training Kenneth Lyons Jones, MD Luther K. Robinson, MD Ludmila N. Bakhireva, MD, MPH Galina Marintcheva, MD Sarah N. Mattson, PhD Edward P. Riley, PhD Christina D. Chambers, PhD, MPH

Methods intensive 2 day training of four local pediatricians was conducted by two U.S. dysmorphologists (KLJ and LKR) over a two-day period two three-physician teams (one dysmorphologist and two Russian pediatricians) worked in parallel over two days

Methods children previously diagnosed with FAS as well as those who did not have that diagnosis were examined simultaneously by the Russian pediatricians and the dysmorphologists in each of the two teams after completion of the training, local pediatricians independently examined children in a total of 41 institutions in Moscow over a several-month period of time

Methods Based on their physical examinations, the pediatricians assigned each child one of the three preliminary diagnoses: FAS, Deferred, No FAS. An identical standardized physical examination was subsequently performed by the dysmorphologist on children with the diagnosis of FAS or Deferred.

Methods To evaluate the ability of these specially trained pediatricians to correctly classify children as FAS or Deferred we compared the frequency distribution of these diagnostic categories of FAS between the two groups of examiners To evaluate the ability of pediatricians to recognize specific alcohol-related features, we compared the inter-rater agreement between the pediatricians and the dysmorphologists on the following: height ≤ 10th centile, head circumference ≤ 10th centile, palpebral fissure length ≤10th centile, philtral length ≥ 90th centile, smooth philtrum, thin upper lip, and presence or absence of a “hockey stick” palmar crease

Agreement in the diagnosis of FAS or Deferred made by pediatricians and dysmorphologists among 110 children Pediatrician Dysmorphologist Diagnosis N N (%)* FAS 66 (83.5%) 79 Deferred 10 (12.7%) No FAS 3 (3.8%) 13 (41.9%) 31 8 (25.8%) 10 (32.3%) *Number and proportion of children in each diagnostic category assigned by the pediatrician as reclassified by the dysmorphologist

Agreement in recognizing selected individual features of FAS Structural feature Kappa statistic 95% CI Direction of disagreement between pediatrician and dysmorphologist Height ≤10th centile 0.80 0.68; 0.92 Both directions Head circumference ≤10th centile 0.68 0.53; 0.84 Pediatrician underestimate Smooth philtrum 0.42 0.25; 0.59 Hockey stick crease 0.41 0.23; 0.58 Pediatrician overestimate Philtrum ≥ 90th centile 0.36 0.17; 0.54 PFL* ≤ 10th centile 0.35 0.10; 0.61 Thin upper lip 0.14 0.01; 0.28

Conclusions Analysis of the results in terms of accuracy of the pediatricians’ diagnoses documents the effectiveness of a training program Careful demonstration of subtle features characteristic of FAS followed by observation and correction of technique is necessary

Conclusions Pediatricians have functioned primarily as intermediaries in evaluating children prenatally exposed to alcohol Following a short interactive training program, pediatricians can contribute in a more definitive way to the accurate diagnosis of FAS thus enhancing potential access to early intervention and treatment for affected children.