Environmental Exposure to Dioxins, Dibenzofurans, Bisphenol A, and Phthalates in Children with and without Autism Spectrum Disorder Living near the Gulf of Mexico.

Environmental exposure to organic endocrine disrupting chemicals, including dioxins, dibenzofurans, bisphenol A (BPA), and phthalates has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD). We conducted a pilot monitoring study of 30 ASD cases and 10 typically developing (TD) controls ages 2-8 years from communities along the Gulf of Mexico near Alabama, which houses 14 Superfund sites, to assess the concentrations of dioxins and dibenzofurans in serum, and BPA and phthalate ester metabolites in urine. Based on General Linear Models, the lipid- or creatinine-adjusted geometric mean concentrations of the aforementioned chemicals did not differ between the ASD case and TD control groups (all p ≥ 0.27). We compared our findings to the adjusted means as reported by the National Health and Nutrition Examination Survey, survey years 2011-2012, and found that TD controls in our study had lower BPA (59%) and MEHHP (26%) concentrations, higher MBP (50%) concentration, and comparable (<20% difference) MEP, MBZP, MEOHP, and MCPP concentrations. We also conducted a preliminary investigation of dietary exposures and found that the consumption of certain types of fish may be associated with higher OCDD concentrations, and the consumption of soft drinks and juices may be associated with lower BPA and MEOHP concentrations, respectively.

Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.

OBJECTIVE: Microarray comparative genomic hybridization is an extremely sensitive technology that increasingly identifies deletions and duplications of unknown significance. Our objective was to determine whether children with autism and other developmental delays who have genomic imbalances manifest more craniofacial dysmorphism and have lower cognitive scores than children from the same clinic population who have normal microarrays. METHOD: A clinical geneticist, blinded to the history, reviewed photographs for craniofacial dysmorphism. Forty-five (24%) of 187 children who had a microarray had a deletion or duplication >200 kb. Thirty-six of those with abnormal microarrays (11 microdeletions and 25 duplications) had completed their evaluation, which included 3 deletions and 10 duplications of unknown significance. Subjects with and without microarray anomalies did not differ in age, sex, growth parameters, parental age or education level, insurance status, or cognitive scores. RESULTS: Twenty-eight (78%) of the 36 children with microarray anomalies had craniofacial dysmorphism as compared with 45% of those with normal microarrays (p = .0005). Among the 13 children with microarray abnormalities of unknown significance, 10 (77%) were dysmorphic, similar to 18 (78%) of 23 who had a genomic imbalance known to affect development. Among the 10 children with dysmorphism and a microarray anomaly of unknown significance, 7 also had an IQ ≤70 and/or a diagnosis of autism. CONCLUSION: Microdeletions and duplications not previously known to be associated with human disease were strongly associated with craniofacial dysmorphism, cognitive scores ≤70, and a diagnosis of autism in this clinic population, providing presumptive evidence that these genomic imbalances are clinically significant.

Abortion and the risk of subsequent preterm birth: a systematic review with meta-analyses.

OBJECTIVE: To conduct a systematic review and meta-analyses of studies that test the association between induced or spontaneous abortion and subsequent preterm birth. STUDY DESIGN: International databases were reviewed (1995-2007) using the terms preterm, premature, birth, labor, delivery, abortion, induced abortion, miscarriage and spontaneous abortion. Only studies that met prespecified objective criteria for methodologic design and reporting were included in the meta-analyses. RESULTS: Twelve induced and 9 spontaneous abortion studies met inclusion criteria. Common adjusted odds ratios (ORs) for preterm birth following 1 and > or = 2 induced abortions were 1.25 (95% confidence interval [95% CI] 1.03-1.48) and 1.51 (95% CI 1.21-1.75), respectively. Four studies provided a common adjusted OR for < or = 32 weeks' births of 1.64 (95% CI 1.38-1.91). Meta-regression analysis revealed a previously unrecognized inverse relationship between the In OR and the control population preterm birth rate, explaining in part the observed heterogeneity among studies. Analysis of spontaneous abortion and subsequent preterm birth revealed a similar common adjusted OR and inverse meta-regression on the control preterm birth rates. CONCLUSION: Induced and spontaneous abortion are associated with similarly increased ORs for preterm birth in subsequent pregnancies, and they vary inversely with the baseline preterm birth rate, explaining some of the variability among studies.

Barriers to children having a medical home in Johnson County, Iowa: notes from the field.

BACKGROUND: In Iowa 70.7% of children who qualify for Title XIX and/or Title V services have a medical home, but in Johnson County, Iowa only 54.0% of such children have one. Objectives Identify barriers to access to a medical home for children who use Johnson County Public Health (JCPH) services and recommend strategies to overcome these barriers. METHODS: Families with children attending JCPH well-child and WIC clinics were randomly selected to be interviewed using a semi-structured, 38-item questionnaire. Data analysis used qualitative and quantitative methodologies. RESULTS: Among 71 families interviewed, 41 had children without a medical home and 85% of these families cited financial barriers. Lack of U.S. citizenship accounted for 59% without health insurance. A recent move contributed to 29% not having medical homes. Nine different languages were spoken among the 41 families without a medical home. Forty-one percent of all parents interviewed had never had a medical home themselves. Many parents perceived emergency departments as more convenient than doctors' offices. CONCLUSIONS: Lack of health insurance, due primarily to citizenship status, is the greatest barrier to access to a medical home in this population. The migratory nature of the U.S. population, marked cultural diversity, and parental attitudes were additional barriers to children's access to a medical home. Strategies to overcome these barriers are discussed.

Long-term neurodevelopmental outcome and brain volume after treatment for hydrops fetalis by in utero intravascular transfusion.

OBJECTIVE: We tested the hypothesis that long-term neurodevelopmental outcomes of successfully treated fetuses with immune hydrops are similar to their unaffected siblings according to a protocol that addresses the underlying pathophysiologic condition. STUDY DESIGN: Sixteen of 18 consecutive hydropic fetuses (89%) who were treated in a dedicated fetal medicine unit between July 1985 and October 1995 survived. The transfusion protocol used a 2-step correction over a 2 to 4 day interval, combined with umbilical venous pressure measurements to avoid over transfusion and bicarbonate administration to assure a posttransfusion UV pH of >7.30. Survivors were evaluated at a mean age of 10 years. Statistical analyses included t-test, Wilcoxon rank-sum test, Fisher's exact test, and Pearson coefficients. RESULTS: Overall, death or major neurologic morbidity occurred in 4 of 18 of the fetuses (22%) who were treated (2/16 of survivors [12.5%]). Among the survivors, the children with immune hydrops had physical, neurologic, and cognitive outcomes statistically similar to their siblings, except for a measure of visual attention. Two of the children (12%) had major neurologic sequelae. Brain volumes were statistically smaller than unrelated control subjects by 8.8%, but these control subjects were not matched for height at testing or gestational age at birth. Both groups had brain volumes within the normal range. CONCLUSION: Intravascular transfusion of fetuses with profoundly anemic immune hydrops results in high survival rates and favorable long-term neuropsychological outcomes.

Behavioral management of a long-term survivor with tetrasomy 18p.

We report on a 41-year-old male with dysmorphic features, marked obesity, profound mental retardation, and aggressive behavior who was recently diagnosed with tetrasomy of the short arm of chromosome 18, [47, XY, i(18)(p10)]. His initial diagnosis, based upon chromosomal analysis at 6 years of age in 1969, was "trisomy F syndrome." Approximately 60 cases of tetrasomy 18p are reported in the literature, with little information regarding their long-term behavioral profiles or outcomes from therapy. We describe the behavioral management as well as the medical and genetic evaluation for this older patient with tetrasomy. With improved preventive care and intervention, patients with rare chromosomal abnormalities are living longer and, therefore, provide insight into the natural history of their disorders. Efforts need to be directed toward behavior management, social skills training, and augmentation of communication if the quality of life of these individuals is to continue to improve.