Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the North Carolina Cleft Outcomes Study.

BACKGROUND: Epidemiologic studies involving birth defects are extremely sensitive to phenotype accuracy and precision. We devised a case review and classification protocol for a project to study school achievement in children with idiopathic, nonsyndromic orofacial clefts to improve the reliability of phenotypic classification from the statewide birth defects registry. METHODS: Surveillance-program abstraction data and medical records at the birth or treating hospitals were used when available. Exclusion criteria included: median cleft lip; Tessier cleft; premaxillary agenesis; presence of a recognizable syndrome, phenotype, association, or sequence (other than Robin sequence); clefts with other malformations not considered to be normal or common variants in the newborn; and cases with documented or suspected genetic or teratogenic causes. RESULTS: Of 712 children identified with orofacial clefts, 153 were excluded, leaving 559 nonsyndromic orofacial cleft cases of unknown cause in the final study. These cases were grouped into the following clinically meaningful types: cleft lip with or without cleft alveolus; cleft lip and cleft palate; and cleft palate only. This review and classification process resulted in the elimination of 21.5% of the original cohort of identified cases, with most exclusions being due to suspected syndromic associations. CONCLUSION: Verbatim descriptions of the clinical findings are critical for accurate classification of diagnoses. This review process improved the precision of orofacial cleft phenotype classification for our study. Precision would have been further improved if all of the cases had verbatim descriptions of diagnoses and all medical records could have been reviewed by the classification team.

The Effect of altering ADL thresholds on active life expectancy estimates for older persons.

OBJECTIVES: Research on disability and active life expectancy (ALE) has often criticized the measurement of disability but has rarely empirically investigated the effect of changing measurement. The purpose of this study was to determine whether altering the number of activities of daily living (ADLs) required to consider an individual "disabled" affects population-based ALE estimates after considering parametric uncertainty and sampling error. METHODS: The authors develop a Bayesian approach to estimating multistate life tables for a three-dimensional state space, using data on community-dwelling older adults from the 1989 and 1994 National Long Term Care Survey analytic files. Empirical confidence intervals for ALE are compared across 6 models using successively higher ADL cutoffs for defining individuals as being disabled. RESULTS: After considering sampling and other errors in the estimation of transition probabilities, the authors found that altering the threshold for measuring disability has relatively little effect on ALE estimates, especially with higher ADL-level thresholds and at older ages. DISCUSSION: The implications of the results include that disability measurement, including altering the definition of being disabled and possibly expanding the state space of a model, may not affect population-based estimates of ALE.