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Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study
Author(s) -
Howley Meredith M.,
KepplerNoreuil Kim M.,
Cunniff Christopher M.,
Browne Marilyn L.
Publication year - 2018
Publication title -
birth defects research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.845
H-Index - 17
ISSN - 2472-1727
DOI - 10.1002/bdr2.1388
Subject(s) - cerebellar hypoplasia (non human) , odds ratio , epidemiology , hypoplasia , medicine , etiology , pediatrics , population , cerebellum , pregnancy , case control study , confidence interval , biology , environmental health , genetics
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.