Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England. CNV pathogenicity was assessed using standard clinical diagnostic methods and participants underwent comprehensive medical and psychiatric phenotyping. We found an 11% yield of likely pathogenic CNVs (22/202). CNVs at recurrent loci, including the 15q11-q13 and 16p11.2-p13.11 regions were most frequently observed. We observed an increased frequency of 16p11.2 duplications compared with those reported in single-disorder cohorts. CNVs were also identified in genes known to effect neurodevelopment, namely NRXN1 and GRIN2B. Furthermore deletions at 2q13, 12q21.2-21.31 and 19q13.32, and duplications at 4p16.3, 13q32.3-33.3 and Xq24-25 were observed. Routine CMA in ID psychiatry could uncover ~11% new genetic diagnoses with potential implications for patient management. We advocate greater consideration of CMA in the assessment of adults with idiopathic ID presenting to psychiatry services

Keep wetlands wet: the myth of sustainable development of tropical peatlands - implications for policies and management.

Pristine tropical peat swamp forests (PSFs) represent a unique wetland ecosystem of distinctive hydrology which support unique biodiversity and globally significant stores of soil carbon. Yet in Indonesia and Malaysia, home to 56% of the world's tropical peatland, they are subject to considerable developmental pressures, including widespread drainage to support agricultural needs. In this article, we review the ecology behind the functioning and ecosystem services provided by PSFs, with a particular focus on hydrological processes as well as the role of the forest itself in maintaining those services. Drawing on this, we review the suitability of current policy frameworks and consider the efficacy of their implementation. We suggest that policies in Malaysia and Indonesia are often based around the narrative of oil palm and other major monocrops as drivers of prosperity and development. However, we also argue that this narrative is also being supported by a priori claims concerning the possibility of sustainability of peat swamp exploitation via drainage-based agriculture through the adherence to best management practices. We discuss how this limits their efficacy, uptake and the political will towards enforcement. Further, we consider how both narratives (prosperity and sustainability) clearly exclude important considerations concerning the ecosystem value of tropical PSFs which are dependent on their unimpacted hydrology. Current research clearly shows that the actual debate should be focused not on how to develop drainage-based plantations sustainably, but on whether the sustainable conversion to drainage-based systems is possible at all

Nineteenth-century population structure of Ireland and of the Irish in England and Wales: An analysis by isonymy

This article uses isonymy to test predictions about the genetic structure of Irish populations made on the basis of geography and population history, and compares the mid-nineteenth century population of Ireland with the late nineteenth century Irish-born population resident in England and Wales. Surname data were derived from (1) the householders named in the index to Griffith's valuation of Ireland, a survey undertaken between 1846 and 1864, and (2) of Irish-born residents named in 1881 census of England and Wales. Visual representation of the Griffith's valuation isonymy matrix by multidimensional scaling (MDS) gives a result very close to the geographical distribution of Irish counties, and Mantel matrix correlation shows random isonymy between counties to be negatively associated with geographical distance, generally decaying according to a pattern of isolation-by-distance, with exceptions that can be explained in terms of Irish population history. Some 141,360 Irish-born residents in England and Wales at the 1881 census were assigned to an Irish county of origin, and random isonymy by county of birth for this group also shows a close correspondence to Irish geography. The Mantel matrix correlation between the Irish in Ireland and the Irish in England is 0.855, R2 = 0.7306, indicating that the emigrant Irish in England were representative of the populations of the Irish counties from which they were derived. This result, together with the strong geographical patterning of surnames in Ireland, suggests that isonymy can be used to investigate the population structure and origin of Irish emigrant groups in Britain and potentially throughout the Irish diaspora. Am. J. Hum. Biol. 2009. © 2008 Wiley-Liss, Inc