Clinical utility of chromosomal microarray analysis.

OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results. METHODS: A total of 46,298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental delay, congenital anomalies, dysmorphic features, and neurobehavioral problems. The frequency of detection of abnormalities associated with actionable clinical features was tallied, and the rate of physician response to a subset of abnormal tests results was monitored. RESULTS: A total of 2088 diagnoses were made of more than 100 different disorders that have specific clinical features that warrant follow-up. The detection rate for these conditions using high-resolution whole-genome microarrays was 5.4%, which translates to 35% of all clinically significant abnormal test results identified in our laboratory. In a subset of cases monitored for physician response, appropriate clinical action was taken more than 90% of the time as a direct result of the microarray finding. CONCLUSIONS: The disorders diagnosed by chromosomal microarray analysis frequently have clinical features that need medical attention, and physicians respond to the diagnoses with specific clinical actions, thus arguing that microarray testing provides clinical utility for a significant number of patients tested.

Within-day drinking water consumption patterns: results from a drinking water consumption survey.

Data currently available on drinking water intakes do not support dietary exposure estimates for contaminants that have acute effects lasting less than 24 h. Realistic exposure estimates for these types of contaminants in drinking water require detailed information on amounts and time of consumption for each drinking occasion during a day. A nationwide water consumption survey was conducted to address how often, when, and how much water is consumed at specific times during the day. The survey was conducted in two waves, to represent two seasons, and the survey instrument consisted of 7-day water consumption diaries. Data on total daily amounts consumed, number of drinking occasions per day, amounts consumed per drinking occasion, and intervals between drinking occasions show larger between-subjects variation than within-subject variation. Statistically significant associations were also observed between drinking water consumption patterns and participants' ages and sex and geographical regions in which these participants live. The number of drinking occasions on a given day varied from 0 to 19, with the majority of respondents reporting 6 or less drinking occasions per day. The average interval between drinking occasions varied from 1 to 17 h, with 57% of the person-days reporting average intervals at least 3 h apart. The mean amount consumed per drinking occasion showed little association with the number of drinking occasions and fluctuated between 8 and 10 oz. To our knowledge, this survey is the only source of information on within-day patterns (i.e., when and how much) of drinking water consumption for a nationally representative sample of the US population. The detailed water consumption data from this survey can be used to support less than 24-h dietary exposure estimates for contaminants in drinking water.

Comprehension of idioms in adolescents with language-based learning disabilities compared to their typically developing peers.

UNLABELLED: Adolescents with language-based learning disabilities (LBLD) often interpret idioms literally. When idioms are provided in an enriched context, comprehension is compromised further because of the LBLD student's inability to assign multiple meanings to words, assemble and integrate information, and go beyond a local referent to derive a global, coherent meaning. This study tested the effects of context and familiarity on comprehension of 24 idioms in 22 adolescents with LBLD. The students completed the Idiom Comprehension Test (ICT) [Language, Speech, and Hearing Services in Schools 30 (1999) 141; LSHSS 34 (2003) 69] in one of two conditions: in a story or during a verification task. Within each condition were three familiarity levels: high, moderate, and low. The LBLD adolescents' data were then compared to previously collected data from 21 age-, gender-, and reading ability-matched typically developing (TD) peers. The relations between reading and language literacy and idiom comprehension were also examined in the LBLD adolescents. Results showed that: (a) the LBLD adolescents generally performed poorly relative to their TD counterparts; however, the groups performed comparably on the high and moderate familiarity idioms in the verification condition; (b) the LBLD adolescents performed significantly better in the verification condition than in the story condition; and (c) reading ability was associated with comprehension of the low familiarity idioms in the story condition only. Findings are discussed relative to implications for speech-language pathologists (SLPs) and educators working with adolescents with LBLD. LEARNING OUTCOMES: As a result of this activity, the participant will be able to (1) describe the importance of metalinguistic maturity for comprehension of idioms and other figures of speech; (2) understand the roles of context and familiarity when assessing idiom comprehension in adolescents with LBLD; and (3) critically evaluate assessments of idiom comprehension and determine their appropriateness for use with adolescents with LBLD.