Defining language impairments in a subgroup of children with autism spectrum disorder

Autism spectrum disorder (ASD) is diagnosed on the basis of core impairments in pragmatic language skills, which are found across all ages and subtypes. In contrast, there is significant heterogeneity in language phenotypes, ranging from nonverbal to superior linguistic abilities, as defined on standardized tests of vocabulary and grammatical knowledge. The majority of children are verbal but impaired in language, relative to age-matched peers. One hypothesis is that this subgroup has ASD and co-morbid specific language impairment (SLI). An experiment was conducted comparing children with ASD to children with SLI and typically developing controls on aspects of language processing that have been shown to be impaired in children with SLI: repetition of nonsense words. Patterns of performance among the children with ASD and language impairment were similar to those with SLI, and contrasted with the children with ASD and no language impairment and typical controls, providing further evidence for the hypothesis that a subgroup of children with ASD has co-morbid SLI. The findings are discussed in the context of brain imaging studies that have explored the neural bases of language impairment in ASD and SLI, and overlap in the genes associated with elevated risk for these disorders.M01 RR00533 - NCRR NIH HHS; R01 DC10290 - NIDCD NIH HHS; U19 DC03610 - NIDCD NIH HH

Temporal changes in key maternal and fetal factors affecting birth outcomes: A 32-year population-based study in an industrial city

<p>Abstract</p> <p>Background</p> <p>The link between maternal factors and birth outcomes is well established. Substantial changes in society and medical care over time have influenced women's reproductive choices and health, subsequently affecting birth outcomes. The objective of this study was to describe temporal changes in key maternal and fetal factors affecting birth outcomes in Newcastle upon Tyne over three decades, 1961–1992.</p> <p>Methods</p> <p>For these descriptive analyses we used data from a population-based birth record database constructed for the historical cohort <b>Pa</b>rticulate <b>M</b>atter and <b>P</b>erinatal <b>E</b>vents <b>R</b>esearch (PAMPER) study. The PAMPER database was created using details from paper-based hospital delivery and neonatal records for all births during 1961–1992 to mothers resident in Newcastle (out of a total of 109,086 singleton births, 97,809 hospital births with relevant information). In addition to hospital records, we used other sources for data collection on births not included in the delivery and neonatal records, for death and stillbirth registrations and for validation.</p> <p>Results</p> <p>The average family size decreased mainly due to a decline in the proportion of families with 3 or more children. The distribution of mean maternal ages in all and in primiparous women was lowest in the mid 1970s, corresponding to a peak in the proportion of teenage mothers. The proportion of older mothers declined until the late 1970s (from 16.5% to 3.4%) followed by a steady increase. Mean birthweight in all and term babies gradually increased from the mid 1970s. The increase in the percentage of preterm birth paralleled a two-fold increase in the percentage of caesarean section among preterm births during the last two decades. The gap between the most affluent and the most deprived groups of the population widened over the three decades.</p> <p>Conclusion</p> <p>Key maternal and fetal factors affecting birth outcomes, such as maternal age, parity, socioeconomic status, birthweight and gestational age, changed substantially during the 32-year period, from 1961 to 1992. The availability of accurate gestational age is extremely important for correct interpretation of trends in birthweight.</p

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis

The lysine demethylase Kdm3a (Jhdm2a, Jmjd1a) is required for male fertility, sex determination, and metabolic homeostasis through its nuclear role in chromatin remodeling. Many histone-modifying enzymes have additional nonhistone substrates, as well as nonenzymatic functions, contributing to the full spectrum of events underlying their biological roles. We present two Kdm3a mouse models that exhibit cytoplasmic defects that may account in part for the globozoospermia phenotype reported previously. Electron microscopy revealed abnormal acrosome and manchette and the absence of implantation fossa at the caudal end of the nucleus in mice without Kdm3a demethylase activity, which affected cytoplasmic structures required to elongate the sperm head. We describe an enzymatically active new Kdm3a isoform and show that subcellular distribution, protein levels, and lysine demethylation activity of Kdm3a depended on Hsp90. We show that Kdm3a localizes to cytoplasmic structures of maturing spermatids affected in Kdm3a mutant mice, which in turn display altered fractionation of beta-actin and gamma-tubulin. Kdm3a is therefore a multifunctional Hsp90 client protein that participates directly in the regulation of cytoskeletal components.Publisher PDFPeer reviewe

Taxonomy and evolution of the protomonaxonid sponge family Piraniidae

The protomonaxonid sponge Pirania is an iconic member of the Burgess Shale community, but recent discoveries show that piraniids are morphologically diverse and also occur in Ordovician strata. Here we establish three new piraniid genera on the basis of Ordovician material from China, Wales, Scotland and Morocco: Auraeopirania gen. nov., Cannapirania gen. nov. and Pellipirania gen. nov. We also establish eight new species: Pirania? peregrinata sp. nov. (Lower Ordovician Ningkuo Formation, China); P.? ericia sp. nov. (Lower Ordovician Afon Gam Biota, Wales); Auraeopirania pinwyddeni gen. et sp. nov. (Middle Ordovician Llanfallteg Biota, Wales); A. pykitia gen. et sp. nov. (Upper Ordovician, Scotland); A. sciurucauda gen. et sp. nov. (Early Ordovician, China); Cannapirania canna gen. et sp. nov. (Middle Ordovician Llanfawr Mudstones, Wales); C. vermiformis gen. et sp. nov. (Upper Ordovician Anji Biota, China); and Pellipirania gloria gen. et sp. nov. (Lower Ordovician Fezouata Biota, Morocco). Piraniids have now been widely reported (South China, Avalonia, Laurentia and Gondwana) from Ordovician strata, but in Cambrian strata have been documented only from the Burgess Shale. The Burgess Shale species Pirania muricata appears to be among the most derived members of the Piraniidae, implying a substantial hidden Cambrian diversity of piraniids. Over the family's history there is a tendency for species to become smaller and inhabit deeper-water environments

Taxonomy and evolution of the protomonaxonid sponge family Piraniidae

The protomonaxonid sponge Pirania is an iconic member of the Burgess Shale community, but recent discoveries show that piraniids are morphologically diverse and also occur in Ordovician strata. Here we establish three new piraniid genera on the basis of Ordovician material from China, Wales, Scotland and Morocco: Auraeopirania gen. nov., Cannapirania gen. nov. and Pellipirania gen. nov. We also establish eight new species: Pirania? peregrinata sp. nov. (Lower Ordovician Ningkuo Formation, China); P.? ericia sp. nov. (Lower Ordovician Afon Gam Biota, Wales); Auraeopirania pinwyddeni gen. et sp. nov. (Middle Ordovician Llanfallteg Biota, Wales); A. pykitia gen. et sp. nov. (Upper Ordovician, Scotland); A. sciurucauda gen. et sp. nov. (Early Ordovician, China); Cannapirania canna gen. et sp. nov. (Middle Ordovician Llanfawr Mudstones, Wales); C. vermiformis gen. et sp. nov. (Upper Ordovician Anji Biota, China); and Pellipirania gloria gen. et sp. nov. (Lower Ordovician Fezouata Biota, Morocco). Piraniids have now been widely reported (South China, Avalonia, Laurentia and Gondwana) from Ordovician strata, but in Cambrian strata have been documented only from the Burgess Shale. The Burgess Shale species Pirania muricata appears to be among the most derived members of the Piraniidae, implying a substantial hidden Cambrian diversity of piraniids. Over the family's history there is a tendency for species to become smaller and inhabit deeper-water environments

A new hexactinellid sponge from the Silurian of the Pentland Hills (Scotland) with similarities to extant rossellids

The Pentland Hills sponge fauna (Llandovery, Telychian) consists of an unusual, aberrant assemblage, but of low diversity. A new specimen of a unique sponge, Eoghanospongia carlinslowpensis gen. et sp. nov., is described from the classic locality of R82. The mushroom-shaped, probably stalked body (peduncle attachment to body not exposed) resembles that of some living rossellids, especially Caulophacus. The sponge also shows prominent projecting pentactins and monaxon derivatives – a spicule type diagnostic of the Rossellidae among living taxa, albeit in a robust form not described from extant sponges, including Caulophacus or other pedunculate lyssacinosidans. Certain attribution to the Rossellidae is not possible from the single specimen, largely because of weak preservation of the primary spicule skeleton, but no other fossil or modern sponges show any significant similarity to it. Although similarly early relatives of the Rossellidae have recently been described from elsewhere, the new sponge is even more unexpected in being from a shallow-water environment, making the absence of rossellids through the rest of the Palaeozoic much more problematic

Ordovician opabiniid-like animals and the role of the proboscis in euarthropod head evolution

A crucial step in the evolution of Euarthropoda (chelicerates, myriapods, pancrustaceans) was the transition between fossil groups that possessed frontal appendages innervated by the first segment of the brain (protocerebrum), and living groups with a protocerebral labrum and paired appendages innervated by the second brain segment (deutocerebrum). Appendage homologies between the groups are controversial. Here we describe two specimens of opabiniid-like euarthropods, each bearing an anterior proboscis (a fused protocerebral appendage), from the Middle Ordovician Castle Bank Biota, Wales, UK. Phylogenetic analyses support a paraphyletic grade of stem group euarthropods with fused protocerebral appendages and a posterior-facing mouth, as in the iconic Cambrian panarthropod Opabinia. These results suggest that the labrum may have reduced from an already-fused proboscis, rather than a pair of arthropodized appendages. If some shared features between the Castle Bank specimens and radiodonts are considered convergent rather than homologous, phylogenetic analyses retrieve them as opabiniids, substantially extending the geographic and temporal range of Opabiniidae.Herchel Smith Postdoctoral Fellowshi