Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study

for the National Birth Defects Prevention Study

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Background: Cerebellar hypoplasia is a rare disorder of cerebellar formation in which the cerebellum is not completely developed, smaller than it should be, or completely absent. The prevalence of cerebellar hypoplasia at birth is unknown, and little is known about epidemiological risk factors. Using data from the National Birth Defects Prevention Study (NBDPS), a population-based, case–control study, we analyzed clinical features and potential risk factors for nonsyndromic cerebellar hypoplasia. Methods: The NBDPS included pregnancies with estimated delivery dates from 1997–2011. We described clinical features of cerebellar hypoplasia cases from the study area. We explored risk factors for cerebellar hypoplasia (case characteristics, demographics, pregnancy characteristics, maternal health conditions, maternal medication use, and maternal behavioral exposures) by comparing cases to non-malformed live born control infants. We calculated crude odds ratios (ORs) and 95% confidence intervals using logistic regression models. Results: We identified 87 eligible cerebellar hypoplasia cases and 55 mothers who participated in the NBDPS. There were no differences in clinical features between interviewed and non-interviewed cases. Cerebellar hypoplasia cases were more likely than controls to be from a multiple pregnancy, be born preterm, and have low birth weight. Cerebellar hypoplasia cases were more likely to be born in or after 2005, as opposed to earlier in NBDPS. We found elevated ORs that were not statistically significant for maternal use of vasoactive medications, non-Hispanic black mothers, and mothers with a history of hypertension. Conclusions: Although unadjusted, our findings from a large, population-based study can contribute to new hypotheses regarding the etiology of cerebellar hypoplasia.

Original languageEnglish (US)
Pages (from-to)1419-1432
Number of pages14
JournalBirth Defects Research
Issue number19
StatePublished - Nov 15 2018


  • birth defects
  • cerebellar hypoplasia
  • epidemiology
  • risk factors

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis


Dive into the research topics of 'Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study'. Together they form a unique fingerprint.

Cite this