Developmental profiles of infants with an FMR1 premutation

Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known. Methods This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study. In this study, families whose newborn screened positive for an FMR1 premutation were invited to participate in a longitudinal study of early development. Twenty-six infants with the premutation and 21 matched, screen-negative comparison babies were assessed using validated standardized measures at 6-month intervals starting as young as 3 months of age. The babies were assessed up to seven times over a 4-year period. Results The premutation group was not statistically different from the comparison group on measures of cognitive development, adaptive behavior, temperament, or overall communication. However, the babies with the premutation had a significantly different developmental trajectory on measures of nonverbal communication and hyperresponsivity to sensory experiences. They also were significantly more hyporesponsive at all ages than the comparison group. Cytosine-guanine-guanine repeat length was linearly associated with overall cognitive development. Conclusions These results suggest that infants with a premutation may present with subtle developmental differences as young as 12 months of age that may be early markers of later anxiety, social deficits, or other challenges thought to be experienced by a subset of carriers

Spatial patterns of soil nitrification and nitrate export from forested headwaters in the northeastern United States

Nitrogen export from small forested watersheds is known to be affected by N deposition but with high regional variability. We studied 10 headwater catchments in the northeastern United States across a gradient of N deposition (5.4 - 9.4 kg ha-1 yr-1) to determine if soil nitrification rates could explain differences in stream water NO 3- export. Average annual export of two years (October 2002 through September 2004) varied from 0.1 kg NO3--N ha-1 yr-1 at Cone Pond watershed in New Hampshire to 5.1 kg ha-1 yr-1 at Buck Creek South in the western Adirondack Mountains of New York. Potential net nitrification rates and relative nitrification (fraction of inorganic N as NO3-) were measured in Oa or A soil horizons at 21-130 sampling points throughout each watershed. Stream NO3- export was positively related to nitrification rates (r2 = 0.34, p = 0.04) and the relative nitrification (r2 = 0.37, p = 0.04). These relationships were much improved by restricting consideration to the 6 watersheds with a higher number of rate measurements (59-130) taken in transects parallel to the streams (r 2 of 0.84 and 0.70 for the nitrification rate and relative nitrification, respectively). Potential nitrification rates were also a better predictor of NO3- export when data were limited to either the 6 sampling points closest to the watershed outlet (r2 = 0.75) or sampling points \u3c250 m from the watershed outlet (r2 = 0.68). The basal area of conifer species at the sampling plots was negatively related to NO3- export. These spatial relationships found here suggest a strong influence of near-stream and near-watershed-outlet soils on measured stream NO3- export. Copyright 2012 by the American Geophysical Union

A place for genetic uncertainty: Parents valuing an unknown in the meaning of disease

Klinefelter, Turner, and fragile X syndromes are conditions defined by a genetic or chromosomal variant. The timing of diagnosis, tests employed, specialists involved, symptoms evident, and prognoses available vary considerably within and across these syndromes, but all three share in common a diagnosis verified through a molecular or cytogenetic test. The genetic or chromosomal variant identified designates a syndrome, even when symptoms associated with the particular syndrome are absent. This article analyzes interviews conducted with parents and grandparents of children with these syndromes from across the US to explore how they interpret a confirmed genetic diagnosis that is associated with a range of possible symptoms that may never be exhibited. Parents’ responses indicate that they see the genetic aspects of the syndrome as stable, permanent and authoritative. But they allow, and even embrace, uncertainty about the condition by focusing on variation between diagnosed siblings, the individuality of their diagnosed child, his or her accomplishments, and other positive aspects that go beyond the genetic diagnosis. Some families counter the genetic diagnosis by arguing that in the absence of symptoms, the syndrome does not exist. They use their own expertise to question the perceived certainty of the genetic diagnosis and to employ the diagnosis strategically. These multiple and often conflicting evaluations of the diagnostic label reveal the rich ways families make meaning of the authority attributed to genetic diagnosis

Reading and Phonological Skills in Boys with Fragile X Syndrome

Reading skills are critical for the success of individuals with intellectual disabilities. Literacy has received little attention in fragile X syndrome (FXS), the most common inherited cause of intellectual impairment. This study examined the literacy profile of FXS and tested phonological awareness and autism spectrum disorder (ASD) symptoms as predictors of literacy

Chemical diffusion of fluorine in melts in the system Na2OAl2O3SiO2

The volatilization of fluorine from three melts in the system Na2OAl2O3SiO2 has been investigated at 1 atm pressure and 1200–1400°C. The melts chosen have base compositions corresponding to albite, jadeite and a peraluminous melt with 75 mole % SiO2. Melt spheres were suspended from platinum loops in a vertical tube furnace in a flow of oxygen gas, then quenched, sectioned and analysed by electron microprobe. The microprobe scans indicate that transport of fluorine to the melt-vapor interface is by binary, concentration-independent interdiffusion of fluorine and oxygen. FO interdiffusivity increases in the order albite < peraluminous < jadeite. There is no simple reciprocal relationship between FO interdiffusivity and melt viscosity. Comparison with data on high-pressure interdiffusivity of fluorine and oxygen in jadeite melt indicates that FO interdiffusivity increases with pressure from 0.001 to 10 kbar while the activation energy remains unchanged. Fluorine chemical diffusivity in albite melt is substantially lower than H2O chemical diffusivity in obsidian melts suggesting that different diffusive mechanisms are responsible for the transport of F and H2O in igneous melts. Fluorine diffuses in albite melt via an anionic exchange with oxygen whereas water probably diffuses in obsidian melt via an alkali exchange mechanism

Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid

Advances in genomic sequencing technology have raised fundamental challenges to the traditional ways genomic information is communicated. These challenges will become increasingly complex and will affect a much larger population in the future if genomics is incorporated into standard newborn screening practice. Clinicians, public health officials, and other stakeholders will need to agree on the types of information that they should seek and communicate to parents. Currently, few evidence-based and validated tools are available to support parental informed decision-making. These tools will be necessary as genomics is integrated into clinical practice and public health systems. In this article we describe how the North Carolina Newborn Exome Sequencing for Universal Screening study is addressing the need to support parents in making informed decisions about the use of genomic testing in newborn screening. We outline the context for newborn screening and justify the need for parental decision support. We also describe the process of decision aid development and the data sources, processes, and best practices being used in development. By the end of the study, we will have an evidenced-based process and validated tools to support parental informed decision-making about the use of genomic sequencing in newborn screening. Data from the study will help answer important questions about which genomic information ought to be sought and communicated when testing newborns