Association Testing Of Copy Number Variants in Schizophrenia and Autism Spectrum Disorders

Background: Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copynumber variant loci, but the nature and degree of overlap in copy number variants (deletions compared toduplications) between these two disorders remains unclear.Methods: We systematically evaluated three lines of evidence: (1) the statistical bases for associations of autismspectrum disorders and schizophrenia with a set of the primary CNVs thus far investigated, from previous studies;(2) data from case series studies on the occurrence of these CNVs in autism spectrum disorders, especially amongchildren, and (3) data on the extent to which the CNVs were associated with intellectual disability anddevelopmental, speech, or language delays. We also conducted new analyses of existing data on these CNVs inautism by pooling data from seven case control studies.Results: Four of the CNVs considered, dup 1q21.1, dup 15q11-q13, del 16p11.2, and dup 22q11.21, showed clearstatistical evidence as autism risk factors, whereas eight CNVs, del 1q21.1, del 3q29, del 15q11.2, del 15q13.3, dup16p11.2, dup 16p13.1, del 17p12, and del 22q11.21, were strongly statistically supported as risk factors forschizophrenia. Three of the CNVs, dup 1q21.1, dup 16p11.2, and dup 16p13.1, exhibited statistical support as riskfactors for both autism and schizophrenia, although for each of these CNVs statistical significance was nominal fortests involving one of the two disorders. For the CNVs that were statistically associated with schizophrenia but werenot statistically associated with autism, a notable number of children with the CNVs have been diagnosed withautism or ASD; children with these CNVs also demonstrate a high incidence of intellectual disability anddevelopmental, speech, or language delays.Conclusions: These findings suggest that although CNV loci notably overlap between autism and schizophrenia,the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited. These analysesalso suggest that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes bediagnosed as autism spectrum disorder

Trends and connections across the Antarctic cryosphere

Satellite observations have transformed our understanding of the Antarctic cryosphere. The continent holds the vast majority of Earth’s fresh water, and blankets swathes of the Southern Hemisphere in ice. Reductions in the thickness and extent of floating ice shelves have disturbed inland ice, triggering retreat, acceleration and drawdown of marine-terminating glaciers. The waxing and waning of Antarctic sea ice is one of Earth’s greatest seasonal habitat changes, and although the maximum extent of the sea ice has increased modestly since the 1970s, inter-annual variability is high, and there is evidence of longer-term decline in its extent

A digital correlator upgrade for the Arcminute MicroKelvin Imager

The Arcminute Microkelvin Imager (AMI) telescopes located at the Mullard Radio Astronomy Observatory near Cambridge have been significantly enhanced by the implementation of a new digital correlator with 1.2 MHz spectral resolution. This system has replaced a 750-MHz resolution analogue lag-based correlator, and was designed to mitigate the effects of radio frequency interference, particularly from geostationary satellites that contaminate observations at low declinations. The upgraded instrument consists of 18 ROACH2 Field Programmable Gate Array platforms used to implement a pair of real-time FX correlators -- one for each of AMI's two arrays. The new system separates the down-converted RF baseband signal from each AMI receiver into two 2.3 GHz-wide sub-bands which are each digitized at 5-Gsps with 8 bits of precision. These digital data streams are filtered into 2048 frequency channels and cross-correlated using FPGA hardware, with a commercial 10 Gb Ethernet switch providing high-speed data interconnect. Images formed using data from the new digital correlator show over an order of magnitude improvement in dynamic range over the previous system. The ability to observe at low declinations has also been significantly improved

Infections in families with small children: Use of social insurance and healthcare

Objective. To examine infectious symptoms on a daily basis in families with small children and how often these infections cause people to stay at home or seek healthcare. Design. A population-based prospective study. Setting. Child health clinics in seven municipalities in Sweden. Subjects and main outcome measures. All family members of 835 families who came with an 18-month-old child to a child health clinic were asked to register all infectious symptoms in a diary for a month. They were also asked to indicate whether they had stayed at home from day-care or school, whether social insurance had been used, and whether they had contacted healthcare facilities or seen a physician. Results. In total, 7% of the 18-month-old children and 34% of the parents had no symptoms during the winter month. The most common symptom was a runny nose. The 18-month-old children had 1.6 symptom episodes with an average duration of 5.6 days. Of the symptom episodes 13% led to contact with healthcare facilities and 6% to an antibiotic prescription. Of the symptom days 27% required staying at home and in 10% social insurance was claimed. Conclusion. Symptoms of infection among families with small children were common, with a runny nose being the most common. Physician consultations and antibiotic prescriptions were used in a small proportion of the symptom episodes. Social insurance was claimed in about one-third of the days with absence from day-care