Originally published by 2 Minute Medicine® (view original article). Reused on AccessMedicine with permission.

1. In this prospective cohort study, infants underwent developmental and dysmorphologic assessments at various times throughout early life. Researchers found that starting at 9 months of age, the total dysmorphology score was able to discriminate between children with and without a diagnosis of fetal alcohol spectrum disorders (FASD) at age 5.

2. Significant differences in developmental scores emerged between children with and without FASD between 18 and 42 months of age.

Evidence Rating Level: 2 (Good)

Study Rundown: Fetal alcohol spectrum disorders are the most common environmentally-induced category of intellectual disability in the world, and early identification and referral of at-risk children is crucial. Nonetheless, diagnosis of FASD is typically deferred until children are school-aged due to the challenges of evaluating phenotypes earlier in life. In this prospective cohort study, researchers used repeated longitudinal developmental and dysmorphology assessments of infants after birth at 6 weeks and 9, 18, 42, and 60 months of age and maternal interviews in order to identify infant features that predict a diagnosis of FASD at age 5. Starting at 9 months of age, the total dysmorphology score was able to discriminate between children with and without a diagnosis of FASD at age 5 to a significant degree. Several developmental differences became significant between 18 and 42 months of age.

The assessments were completed by expert dysmorphologists, of whom there are few, limiting the generalizability of the findings to resource-poor areas. Nonetheless, the study is strengthened by its prospective design and inclusion of both and unexposed children from the same community. For physicians, these findings highlight a promising tool to identify and aid in referring FASD at-risk infant at earlier ages than is currently possible.

In-Depth [prospective cohort]: Researchers recruited pregnant women from primary health care clinics and hospitals in two communities in South Africa with a high prevalence of FASD. All women who visited the clinic for antenatal care and agreed to participate were included, and their children had standardized dysmorphology and developmental assessments conducted by trained professionals after birth at 6 weeks and at 9, 18, 42, and 60 months of age. The Collaboration on Fetal Alcohol Spectrum Disorder Prevalence diagnostic guidelines were used for dysmorphology assessment, and the Brazelton Neonatal Behavioral Assessment Scale was used for developmental assessment. Structured maternal interview was used to assess maternal age, ethnicity, physical traits, drinking before and during pregnancy, and other characteristics. Analysis of variance was used to compare changes in developmental assessments across time points on the basis of diagnoses assigned.

Of the 155 children studied, 79 were diagnosed with FASD by 5 years of age and 76 were not. Children at age 5 who were diagnosed with FASD demonstrated significantly higher total dysmorphology scores than those without FASD. Starting at 9 months of age, the total dysmorphology score was able to discriminate between children with FASD and those without FASD with a significant degree of probability (area under the receiver operating characteristic curve = 0.777; P < .001; 95% confidence interval: 0.705-0.849). Significant differences in developmental scores emerged at 18 to 42 months of age between children with and without FASD. Mothers of children diagnosed with FASD at age 5 had significantly higher gravidity and self-reported drinking before and during pregnancy and significantly lower height and BMI than mothers of children without FASD.

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