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Background: Despite the prevalence of fetal alcohol spectrum disorders (FASD) and the importance of accurate identification of patients, clinical diagnosis may not be consistent across sites due to the heterogeneous nature of FASD and the characteristics of different diagnostic systems used. Here, we compare 5 systems designed to operationalize criteria recommended for the diagnosis of effects of prenatal alcohol exposure (PAE). We determined the extent of consistency among them as well as factors that may reduce intersystem reliability. Compared are: Emory Clinic, Seattle 4-Digit System (Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code, Seattle, WA, University Publication Services, 2004), Centers for Disease Control and Prevention (Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis, Department of Health and Human Services, Centers for Disease Control and Prevention, Atlanta, GA, 2004), Canadian Guidelines (CMAJ, 172, 2005, S1), and the Hoyme Modifications (Pediatrics, 115, 2005, 39)., Methods: Subjects were 1,581 consecutively registered patients applying for evaluation at a university-based clinic treating alcohol and drug-exposed children. Records of the multidisciplinary evaluation (pediatric, social, psychological) were abstracted. Diagnostic criteria for all 5 systems were applied, and patients were diagnosed according to each of the systems. We compared results using Cohen's Kappa to evaluate the extent of agreement., Results: Percent of individuals diagnosed with FASD ranged from 4.74% (CDC) to 59.58% (Hoyme). Examination using Cohen's Kappa found modest agreement among systems, particularly when individual diagnoses, Fetal Alcohol Syndrome (FAS), partial FAS (pFAS), and Alcohol-Related Neurodevelopmental Disorder (ARND) were used. Examination of diagnostic criteria found almost perfect agreement on growth (weight; height), with limited overlap for physical features (palpebral fissures, hypoplastic philtrum, upper vermillion) and for neurobehavioral outcomes. Child's race and age influenced agreement among systems, with African American and older children more frequently diagnosed., Conclusions: Results suggest problems in convergent validity among these systems, as demonstrated by a lack of reliability in diagnosis. Absence of an external standard makes it impossible to determine whether any system is more accurate, but outcomes do suggest areas for future research that may refine diagnosis., (Copyright © 2016 by the Research Society on Alcoholism.)

Objectives: Fetal alcohol spectrum disorders are more common in disadvantaged populations. Environmental factors, like suboptimal nutrition, may potentiate the developmental effects of prenatal alcohol exposure. To evaluate the impact of micronutrients, including choline, on reduction of effects of exposure, we examined timing and dose of alcohol and effects of nutritional supplementation at two OMNI-Net sites in Western Ukraine that included high and low risk individuals., Methods: Alcohol-using and nondrinking women were randomized to one of three multivitamin/mineral supplement groups: none, multivitamins/minerals (MVM), and multivitamin/minerals plus choline. Children (N = 367) were tested at 6 months with the Bayley Scales of Infant Development (2nd ED) yielding standard scores for Mental Development Index (MDI), Psychomotor Development Index (PDI) and Behavior., Results: Generalized linear modeling was used: (1) for factorial analysis of effects of alcohol group, multivitamin/minerals, and choline supplementation; and (2) to examine the relationship between amount and timing of alcohol (ounces of absolute alcohol/day [ozAA/day] peri-conception and on average in the second trimester) and MVM supplementation on developmental outcomes while controlling sex, social class, and smoking. MDI was significantly impacted by peri-conceptual alcohol dose (X2(1), p < .001) with more alcohol associated with lower scores and males more negatively affected than females (X2(1), p < .002). Micronutrient supplementation had a protective effect; those receiving supplements performed better ([Formula: see text], p < .005). The PDI motor scores did not differ by group but were affected by peri-conceptual alcohol dose (X2(1), p < .04)., Conclusions for Practice: Multivitamin/mineral supplementation can reduce the negative impact of alcohol use during pregnancy on specific developmental outcomes.

Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessments and parent-response surveys to collect information regarding cognition, communication, socio-emotional, adaptive behavior, and physical development for each child. Despite the small sample size, our data demonstrated some notable differences between cases and controls in socio-emotional development, in delayed recall, and in auditory processing speed. These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.

This study evaluated the effectiveness of an internet accessed training program that included Theory of Mind-based guidance, video models, visual supports, and virtual reality practice sessions in teaching appropriate job interview skills to individuals with high functioning Autism Spectrum Disorders. In a randomized study, twenty-two youth, ages 16-19, were evaluated during two employment interviews. Half received a training intervention following the initial interview and the half who served as a contrast group did not. Their performance pre and post intervention was assessed by four independent raters using a scale that included evaluation of both Content and Delivery. Results suggest that youth who completed the JobTIPS employment program demonstrated significantly more effective verbal content skills than those who did not.

Different formats for delivering parent education designed to improve the functioning of children with FASD were evaluated. Participants were randomly assigned to a treatment condition: (1) Community Standard/Informational Packet, (2) Group Workshops, and (3) Internet Training. Overall satisfaction was high for all formats but the Workshop group received higher ratings on usefulness, understandability, amount, overall satisfaction, and willingness to recommend than did the Community group and higher ratings than did the Internet group on amount of information and overall satisfaction. All three groups improved in their knowledge of behavioral learning principles but only the Internet and Workshop groups made significant gains in knowledge of FAS and advocacy. Improved behavior was only found in the Workshop and Community conditions. The results suggest all forms of parent education have some benefits but the child's degree of alcohol-related impairment, severity of behavioral symptoms, and overall goals of the intervention may influence optimal choice.