Congenital Malformations Registry - Summary Report, 2007

Section 7: Current Publications

  1. Browne ML, Hoyt AT, Feldkamp ML, Rasmussen SA, Marshall EG, Druschel CM, Romitti PA. Maternal caffeine intake and risk of selected birth defects in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2011; 91(2):93-101.

    Convincing evidence of an association between maternal caffeine intake and the birth defects included in this study (anotia/ microtia, esophageal atresia, small intestinal atresia, craniosynostosis, diaphragmatic hernia, omphalocele, and gastroschisis) was not observed. Small elevations were noted in odds ratios for total maternal dietary caffeine intake or specific types of caffeinated beverages and several types of defects; however, dose-response patterns were absent.

  2. Carter TC, Olney RS, Mitchell AA, Romitti PA, Bell EM, Druschel CM; National Birth Defects Prevention Study. Maternal self-reported genital tract infections during pregnancy and the risk of selected birth defects. Birth Defects Res A Clin Mol Teratol. 2011; 91(2):108-16.

    Of over 50 specific birth defect types examined, genital tract infections during the periconceptional period were associated with small to modest increases in the risk of bilateral renal agenesis/hypoplasia, cleft lip with or without cleft palate, and transverse limb deficiency and chlamydia/gonorrhea/pelvic inflammatory disease was associated with cleft lip only. Considering the number of birth defects studied, this study found little evidence of a causal association between genital tract infections and birth defects.

  3. Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C, and the MD STARnet group. Disparities in the Diagnosis of Duchenne and Becker Muscular Dystrophy. Genetics in Medicine. 2011; 13(11):942-7.

    Racial and ethnic disparities in the diagnostic process for Duchenne and Becker Muscular Dystrophy (DBMD) were found even after adjustment for family history of DBMD and changes in the diagnostic process over time. Black and Hispanic children were initially evaluated at older ages than White children, and the gap widened at later steps in the diagnostic process.

  4. Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, Mathews KD, Miller TM, Cunniff C, Meaney FJ, Druschel CM, Romitti P, Fox DJ, and the MD STARnet group. Use of corticosteroids in a population-based cohort of boys with Duchenne and Becker muscular dystrophy. J Child Neurol. 2010; 25(11):1319-24.

    The use of corticosteroids for treatment of Duchenne/Becker muscular dystrophy (DBMD) was examined. Corticosteroid use increased from 20% of individuals in 1991 to 44% in 2005. Average use varied by across 4 U.S. sites, ranging from 15% to 49%, with 6.9 years old as the median age of treatment. Median dose for prednisone was 0.729 mg/kg; for deflazacort was 0.831 mg/kg. The most common discontinuation reasons were weight gain, behavioral side effects and loss of ambulation resulting in full-time wheelchair use.

  5. Moxley RT 3rd, Pandya S, Ciafaloni E, Fox DJ, and Campbell K. Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: Implications for management. J Child Neurol. 2010; 25(9):1116-29.

    In 2005, the American Academy of Neurology published a practice parameter indicating that prednisone has a beneficial effect on muscle strength and function in patients with Duchenne muscular dystrophy (DMD). Recent reports emphasize that longer term treatment with corticosteroids (greater than 3 years) produces important sustained benefits without causing major side effects. This review indicates that long-term corticosteroid therapy (1) prolongs ambulation by 2 to 5 years, (2) reduces the need for spinal stabilization surgery, (3) improves cardiopulmonary function, (4) delays use of noninvasive nasal ventilation, and (5) increases survival and quality of life of DMD patients.

  6. Munsie JW, Lin S, Browne ML, Campbell KA, Caton AR, Bell EM, Rasmussen SA, Romitti PA, Druschel CM; National Birth Defects Prevention Study. Maternal bronchodilator use and the risk of orofacial clefts. Hum Reprod. 2011; 26(11):3147-54.

    Periconceptional maternal bronchodilator use was associated with a modest increase in the risk of cleft lip only and a nonsignificant increase in the risk of cleft palate only. No association was observed for maternal bronchodilator use and the risk of cleft lip with cleft palate. It is unclear whether the increased risk estimates observed in this study are due to bronchodilator use, the severity of asthma, or both, or to chance alone.

  7. Nabukera SK, Romitti PA, Campbell KA, Meaney FJ, Hockett Sherlock S, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews D, Ciafaloni E, Mathews K, and the MD STARnet group. Use of Complementary and Alternative Medicines in the Management of Duchenne/Becker Muscular Dystrophy in the MD STARnet Cohort. Accepted for publication at J Child Neurol. 2011.

    Use of complementary and alternative medicine for males with Duchenne/Becker muscular dystrophy (DBMD) was examined. Through caregiver interviews, 80% reported ''ever'' using complementary and alternative medicines for their affected children (mind-body medicine/ 61.5%; biologically-based practices/48.0%; manipulative and body-based practices/29.0%; whole medical systems/8.5%). Overall, complementary and alternative medicines use was high; disease duration, education, and income levels influenced use.

  8. Richardson S, Browne ML, Rasmussen SA, Druschel CM, Sun L, Jabs EW, Romitti PA; National Birth Defects Prevention Study. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2011; 91(7):623-30.

    Maternal periconceptional alcohol consumption and in particular binge drinking was associated with increases in the risk of omphalocele and gastroschisis. A decreased risk of craniosynostosis was observed following second and third trimester alcohol consumption.

  9. Wang Y , Hu J, Druschel CM, Kirby RS. 25-year Survival of Children with Birth Defects in New York State: A Population-based Study. Birth Defects Res A Clin Mol Teratol. 2011; 91(12):995-1003.

    Using the statewide, population-based birth defects surveillance data in New York State, the survival experience of the study cohort was examined across all survival time periods by individual birth defect of interest. Several risk factors that affect survival were identified.

  10. Wang Y, Caggana M, Sango-Jordan M, Sun M, Druschel CM. Long-term follow-up of children with confirmed newborn screening disorders using record linkage. Genet Med. 2011; 13:881-6.

    The mortality and survival experience of the children with birth defects during infancy and childhood period by individual birth defects of interest were examined using the state-wide, population-based birth defects surveillance data. As expected, children born with birth defects had a higher risk of mortality compared to children without birth defects. The magnitude of the risk varied by children's age, birth and maternal characteristics and the lethality of the specific birth defects involved.