Genetics and Developmental Pediatrics

Research Highlights:

Autism Spectrum Disorder Surveillance 2014 

Researchers from the UA participated in the U.S. Centers for Disease Control and Prevention study that now estimates that 1 in 68 children in the United States has been identified as having an autism spectrum disorder (ASD), based on tracking across multiple areas of the nation.

In Arizona, the findings were slightly higher, with 1 in 64 children in Maricopa County identified with ASD.

The report, “Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010,” provides autism prevalence estimates from 11 areas. It was published yesterday in the Morbidity and Mortality Weekly Report.

The UA team reviewed the records of more than 33,000 8-year-old children in Maricopa County to determine the prevalence of Autism Spectrum Disorders and intellectual disabilities in that region.  

Highlights from the Arizona-specific study (Arizona findings available at ) Researcher: Sydney Rice, MD

Environmental arsenic exposure, selenium and sputum alpha-1 antitrypsin

Exposure to arsenic in drinking water is associated with increased respiratory disease. Alpha-1 antitrypsin (AAT) protects the lung against tissue destruction. The objective of this study was to determine whether arsenic exposure is associated with changes in airway AAT concentration and whether this relationship is modified by selenium.  Researcher: Margaret Kurzius-Spencer, PhD

Contribution of diet to aggregate arsenic exposures-an analysis across populations

The relative contribution of dietary arsenic (As) to aggregate daily exposure has not been well-characterized, especially in relation to the current EPA maximum contaminant level (MCL) of 10 p.p.b. for As in drinking water. Our objectives were to: (1) model exposure to inorganic and total As among non-seafood eaters using subject-specific data, (2) compare the contribution of food, drinking and cooking water to estimated aggregate exposure in households with variable background tap water As levels, and (3) describe the upper distribution of potential dose at different thresholds of tap water As. Dietary As intake was modeled in regional study populations and NHANES 2003-2004 using dietary records in conjunction with published food As residue data. Water As was measured in the regional studies. Researcher: Margaret Kurzius-Spencer, PhD

Correlates of Care for Young Men with duchenned and Becker Muscular Dystrophy

In progressive conditions, such as Duchenne and Becker muscular dystrophy (DBMD), the need for care may outpace care use. We examined correlates that contribute to utilization of needed care. Methods: Structured interviews were conducted on use of care among 34 young men with DBMD who were born before 1982. Results: Disease severity, per capita income, and presence of other relatives with DBMD predicted greater use of services. Race/ethnicity, acculturation, and level of caregiver education did not significantly predict service utilization. Conclusions: We identified disparities in receipt of healthcare and related services in adult men with DBMD that can affect quality of life. Despite the high disease severity identified in this population, these men utilized only half of the services available to individuals with significant progressive conditions. Providers should be aware of low service utilization and focus on awareness and assistance to ensure access to available care. Researcher: F. John Meaney, PhD

Exploring the Feasibility of Using Electronic Health Records in the Surveillance of Fetal Alcohol Syndrome

BACKGROUND: Explore the use of electronic health records (EHRs) in fetal alcohol syndrome (FAS) surveillance systems. METHODS: Using EHRs we identified diagnoses and anthropometric measurements related to the FAS criteria developed by the Fetal Alcohol Syndrome Surveillance Network (FASSNet) among children aged 0 to 12 years. RESULTS: There were 143,393 distinct children aged between 0 and 12 years enrolled in Kaiser Permanente, Georgia, during the study period. Based on diagnoses and anthropometric measurements, 20,101 children met at least one criterion of interest, and when grouped into combinations of different criteria there were 2285 who met GROWTH1CNS criteria, 76 children who met GROWTH1FACE criteria, 107 children who met CNS1FACE criteria, and 93 children who met GROWTH1CNS1FACE criteria. The prevalence of FAS as defined by FASSNet is 1.92 per 1000 children. We linked 17,084 (85.0%) children to their mothers in the health plan; only 3% of mothers of children in the GROWTH1CNS1 FACE group had an indication of alcohol or drugs use, but they had the highest rate of depression (39%). CONCLUSION: Data of utility in identification of FAS are readily available in EHRs and may serve as a basis for intervention with at-risk children and in planning of future FAS surveillance programs. Researcher: F. John Meaney, PhD