Genetic counseling of adults with Williams syndrome: a first study.

We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants' attitudes toward socio-cultural topics. Forty-nine percent indicated that they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated that they did not plan to have children. During the post-counseling session participants were questioned to determine if they recalled the facts previously presented. Eighty-one percent correctly gave the odds that their child would have WS. Fifty-three percent considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught and 88% indicated that they would want to test their baby for WS before birth. Ninety-eight percent would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS-a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory-are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions.

Differences in saliva collection location and disparities in baseline and diurnal rhythms of alpha-amylase: a preliminary note of caution.

Identified in the early 1980s as a surrogate marker of the sympathetic nervous system component of the stress response, there has been renewed interest in measuring salivary alpha-amylase (sAA) to test biosocial models of stress vulnerability. This brief report presents studies that document that oral fluids from the parotid and submandibular gland areas had higher sAA values than did whole saliva specimens, and sAA values in whole saliva were higher than levels measured in oral fluids from the sublingual gland area. sAA in oral fluids from the parotid and submandibular gland areas showed the highest and more pronounced diurnal variation than levels in whole saliva, and sAA in sublingual saliva showed the lowest and shallowest diurnal variation. When this source of inherent variability in sAA activity levels is not controlled for by collecting oral fluids consistently from specific gland areas, the detection of individual differences, associations between sAA and "behavioral" variables, and intra-individual change in sAA levels may be compromised. Awareness, and management, of this ubiquitous source of measurement error in sAA are essential to ensure the success of future research on the correlates and concomitants of sAA levels, stress-related reactivity and recovery, and diurnal variation.

Integration of salivary biomarkers into developmental and behaviorally-oriented research: problems and solutions for collecting specimens.

Saliva has been championed as a diagnostic fluid of the future. Much of the attention that saliva receives as a biological specimen is due to the perception that the nature of sample collection is quick, uncomplicated, and non-invasive. In most cases, this perception matches reality; however, in some special circumstances and populations collecting saliva can be unexpectedly difficult, time consuming, and may not yield sufficient sample volume for assay. In this report, we review the nature and circumstances surrounding some of these problems in the context of developmental science and then present alternatives that can be used by investigators to improve the next generation of studies. We expect our findings will ease the burden on research participants and assistants, reduce the rate of missing values in salivary data sets, and increase the probability that salivary biomarkers will continue to be successfully integrated into developmental and behaviorally-oriented research.

Measuring salivary cortisol in studies of child development: watch out--what goes in may not come out of saliva collection devices.

Technical advances that enable the noninvasive measurement of biomarkers in saliva have spawned a generation of investigations that integrate biological variables into behavioral and developmental research. This study examines whether the collection of saliva, using common absorbent devices compromises the measurement of cortisol when saliva specimens have low sample volume. Within subjects (n = 20), saliva samples were prepared to experimentally represent a gradient of lower to higher sample volumes. One aliquot was immediately frozen (no treatment control) and the remaining aliquots were absorbed ("collected") using one of three collection techniques employed in studies of child development (e.g., braided cotton dental rope, Salivette cotton pledget, or hydrocellulose microsponge). The sample volume recovered from each device relative to the initial volume available to be absorbed, and cortisol level recovered from each device relative to the untreated-control condition were measured. Results reveal that for certain collection devices (1) the percent volume recovered is related to the initial volume available to be absorbed, (2) a substantial percentage of cortisol in saliva specimens can remain in absorbent material, and (3) the percent of cortisol recovered can be associated with the initial sample volume available to be absorbed. When research participants, such as young children, produce low volume saliva specimens, some absorbent devices may have the potential to introduce error variance in the measurement of salivary cortisol.