37 results on '"Baird G."'
Search Results
2. The biochemistry of muscle relaxation
- Author
-
Baird, G. D.
- Subjects
612.7 - Published
- 1961
3. The economic viability of suppressive crop rotations for the control of verticillium wilt in organic strawberry production
- Author
-
Michuda, A, Michuda, A, Goodhue, R, Klonsky, K, Baird, G, Toyama, L, Zavatta, M, Muramoto, J, Shennan, C, Michuda, A, Michuda, A, Goodhue, R, Klonsky, K, Baird, G, Toyama, L, Zavatta, M, Muramoto, J, and Shennan, C
- Abstract
Soil-borne diseases and nitrogen availability are important limits on organic strawberry production. A trial using suppressive crop rotations to combat Verticillium wilt was conducted to see its effects on strawberry yields and net returns using a split-split-plot design. An ANOVA analysis was run to understand determinants of net returns. Results show that the suppression of wilt through the planting of non-host crops such as broccoli before the planting of strawberries can have significant effects on yield and net returns, and that suppressive crop rotations are potentially commercially viable.
- Published
- 2019
4. European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment
- Author
-
Roessner, V, Plessen, K, Rothenberger, A, Ludolph, A, Rizzo, R, Skov, L, Strand, G, Stern, J, Termine, C, Hoekstra, P, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hartmann, A, Hauser, E, Heyman, I, Hedderly, T, Korsgaard, A, Jackson, G, Larsson, L, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Murphy, T, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Porta, M, Rickards, H, Robertson, M, Servello, D, Tarnok, Z, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Roessner V, Plessen KJ, Rothenberger A, Ludolph AG, Rizzo R, Skov L, Strand G, Stern JS, Termine C, Hoekstra PJ, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hartmann A, Hauser E, Heyman I, Hedderly T, Korsgaard A, Jackson GM, Larsson L, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Murphy T, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Porta M, Rickards H, Robertson MM, Servello D, Tarnok Z, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Roessner, V, Plessen, K, Rothenberger, A, Ludolph, A, Rizzo, R, Skov, L, Strand, G, Stern, J, Termine, C, Hoekstra, P, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hartmann, A, Hauser, E, Heyman, I, Hedderly, T, Korsgaard, A, Jackson, G, Larsson, L, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Murphy, T, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Porta, M, Rickards, H, Robertson, M, Servello, D, Tarnok, Z, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Roessner V, Plessen KJ, Rothenberger A, Ludolph AG, Rizzo R, Skov L, Strand G, Stern JS, Termine C, Hoekstra PJ, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hartmann A, Hauser E, Heyman I, Hedderly T, Korsgaard A, Jackson GM, Larsson L, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Murphy T, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Porta M, Rickards H, Robertson MM, Servello D, Tarnok Z, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, and Wolanczyck T
- Abstract
To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment options, only a limited number of studies meets rigorous quality criteria. Therefore, we have devised a two-stage approach. First, we present the highest level of evidence by reporting the findings of existing Cochrane reviews in this field. Subsequently, we provide the first comprehensive overview of all reports on pharmacological treatment options for TS through a MEDLINE, PubMed, and EMBASE search for all studies that document the effect of pharmacological treatment of TS and other tic disorders between 1970 and November 2010. We present a summary of the current consensus on pharmacological treatment options for TS in Europe to guide the clinician in daily practice. This summary is, however, rather a status quo of a clinically helpful but merely low evidence guideline, mainly driven by expert experience and opinion, since rigorous experimental studies are scarce.
- Published
- 2011
5. European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment
- Author
-
Cath, D, Hedderly, T, Ludolph, A, Stern, J, Murphy, T, Hartmann, A, Czernecki, V, Robertson, M, Martino, D, Munchau, A, Rizzo, R, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cavanna, A, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Strand, G, Tarnok, Z, Termine, C, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, Czernecki V, Robertson MM, Martino D, Munchau A, Rizzo R, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cavanna A, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Roessner V, Rothenberger A, Servello D, Skov L, Strand G, Tarnok Z, Termine C, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Cath, D, Hedderly, T, Ludolph, A, Stern, J, Murphy, T, Hartmann, A, Czernecki, V, Robertson, M, Martino, D, Munchau, A, Rizzo, R, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cavanna, A, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Strand, G, Tarnok, Z, Termine, C, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, Czernecki V, Robertson MM, Martino D, Munchau A, Rizzo R, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cavanna A, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Roessner V, Rothenberger A, Servello D, Skov L, Strand G, Tarnok Z, Termine C, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, and Wolanczyck T
- Abstract
A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS members. Detailed clinical assessment guidelines of tic disorders and their comorbidities in both children and adults are presented. Screening methods that might be helpful and necessary for specialists' differential diagnosis process are suggested in order to further analyse cognitive abilities, emotional functions and motor skills. Besides clinical interviews and physical examination, additional specific tools (questionnaires, checklists and neuropsychological tests) are recommended.
- Published
- 2011
6. European clinical guidelines for Tourette syndrome and other tic disorders. Part III: Behavioural and psychosocial interventions
- Author
-
Verdellen, C, Van De Griendt, J, Hartmann, A, Murphy, T, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hedderly, T, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Ludolph, A, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Rizzo, R, Robertson, M, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Stern, J, Strand, G, Tarnok, Z, Termine, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Verdellen C, Van De Griendt J, Hartmann A, Murphy T, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hedderly T, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Ludolph AG, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Rizzo R, Robertson MM, Roessner V, Rothenberger A, Servello D, Skov L, Stern JS, Strand G, Tarnok Z, Termine C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Verdellen, C, Van De Griendt, J, Hartmann, A, Murphy, T, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hedderly, T, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Ludolph, A, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Rizzo, R, Robertson, M, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Stern, J, Strand, G, Tarnok, Z, Termine, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Verdellen C, Van De Griendt J, Hartmann A, Murphy T, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hedderly T, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Ludolph AG, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Rizzo R, Robertson MM, Roessner V, Rothenberger A, Servello D, Skov L, Stern JS, Strand G, Tarnok Z, Termine C, Visser-Vandewalle V, Wannag E, and Wolanczyck T
- Abstract
https://www.scopus.com/record/display.uri?eid=2-s2.0-79953671767&origin=inward&txGid=f0b1b36d5709f6e790c8e38d3bd219bb#:~:text=This clinical guideline,with drug treatment.
- Published
- 2011
7. Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology
- Author
-
Bishop, DVM, Snowling, MJ, Thompson, PA, Greenhalgh, T, Adams, C, Archibald, L, Baird, G, Bauer, A, Bellair, J, Boyle, C, Brownlie, E, Carter, G, Clark, B, Clegg, J, Cohen, N, Conti-Ramsden, G, Dockrell, J, Dunn, J, Ebbels, S, Gallagher, A, Gibbs, S, Gore-Langton, E, Grist, M, Hartshorne, M, Huneke, A, Joanisse, M, Kedge, S, Klee, T, Krishnan, S, Lascelles, L, Law, J, Leonard, L, Lynham, S, Arnold, EM, Mathura, N, McCartney, E, McKean, C, McNeill, B, Morgan, A, Murphy, C-A, Norbury, C, O'Hare, A, Cardy, JO, O'Toole, C, Paul, R, Purdy, S, Redmond, S, Restrepo, L, Rice, M, Slonims, V, Snow, P, Speake, J, Spencer, S, Stringer, H, Tager-Flusberg, H, Tannock, R, Taylor, C, Tomblin, B, Volden, J, Westerveld, M, Whitehouse, A, Bishop, DVM, Snowling, MJ, Thompson, PA, Greenhalgh, T, Adams, C, Archibald, L, Baird, G, Bauer, A, Bellair, J, Boyle, C, Brownlie, E, Carter, G, Clark, B, Clegg, J, Cohen, N, Conti-Ramsden, G, Dockrell, J, Dunn, J, Ebbels, S, Gallagher, A, Gibbs, S, Gore-Langton, E, Grist, M, Hartshorne, M, Huneke, A, Joanisse, M, Kedge, S, Klee, T, Krishnan, S, Lascelles, L, Law, J, Leonard, L, Lynham, S, Arnold, EM, Mathura, N, McCartney, E, McKean, C, McNeill, B, Morgan, A, Murphy, C-A, Norbury, C, O'Hare, A, Cardy, JO, O'Toole, C, Paul, R, Purdy, S, Redmond, S, Restrepo, L, Rice, M, Slonims, V, Snow, P, Speake, J, Spencer, S, Stringer, H, Tager-Flusberg, H, Tannock, R, Taylor, C, Tomblin, B, Volden, J, Westerveld, M, and Whitehouse, A
- Abstract
BACKGROUND: Lack of agreement about criteria and terminology for children's language problems affects access to services as well as hindering research and practice. We report the second phase of a study using an online Delphi method to address these issues. In the first phase, we focused on criteria for language disorder. Here we consider terminology. METHODS: The Delphi method is an iterative process in which an initial set of statements is rated by a panel of experts, who then have the opportunity to view anonymised ratings from other panel members. On this basis they can either revise their views or make a case for their position. The statements are then revised based on panel feedback, and again rated by and commented on by the panel. In this study, feedback from a second round was used to prepare a final set of statements in narrative form. The panel included 57 individuals representing a range of professions and nationalities. RESULTS: We achieved at least 78% agreement for 19 of 21 statements within two rounds of ratings. These were collapsed into 12 statements for the final consensus reported here. The term 'Language Disorder' is recommended to refer to a profile of difficulties that causes functional impairment in everyday life and is associated with poor prognosis. The term, 'Developmental Language Disorder' (DLD) was endorsed for use when the language disorder was not associated with a known biomedical aetiology. It was also agreed that (a) presence of risk factors (neurobiological or environmental) does not preclude a diagnosis of DLD, (b) DLD can co-occur with other neurodevelopmental disorders (e.g. ADHD) and (c) DLD does not require a mismatch between verbal and nonverbal ability. CONCLUSIONS: This Delphi exercise highlights reasons for disagreements about terminology for language disorders and proposes standard definitions and nomenclature.
- Published
- 2017
8. CAL-collaborative organic research and extension network: on-farm research to improve strawberry/vegetable rotation systems in coastal California
- Author
-
Shennan, C, Shennan, C, Muramoto, T, Baird, G, Zavatta, M, Toyama, L, Nieto, D, Bryer, J, Gershenson, A, Huertos, M Los, Kortman, S, Klonsky, K, Gaskell, M, Koike, ST, Smith, R, Bolda, M, Shennan, C, Shennan, C, Muramoto, T, Baird, G, Zavatta, M, Toyama, L, Nieto, D, Bryer, J, Gershenson, A, Huertos, M Los, Kortman, S, Klonsky, K, Gaskell, M, Koike, ST, Smith, R, and Bolda, M
- Published
- 2016
9. Anaerobic soil disinfestation (ASD): a strategy for control of soil borne diseases in strawberry production
- Author
-
Shennan, C, Shennan, C, Muramoto, J, Baird, G, Zavatta, M, Toyama, L, Mazzola, M, Koike, ST, Shennan, C, Shennan, C, Muramoto, J, Baird, G, Zavatta, M, Toyama, L, Mazzola, M, and Koike, ST
- Published
- 2016
10. CATALISE: A Multinational and Multidisciplinary Delphi Consensus Study. Identifying Language Impairments in Children
- Author
-
Schiller, NO, Bishop, DVM, Snowling, MJ, Thompson, PA, Greenhalgh, T, Adams, C, Archibald, L, Baird, G, Bauer, A, Bellair, J, Boyle, C, Brownlie, E, Carter, G, Clark, B, Clegg, J, Cohen, N, Conti-Ramsden, G, Dockrell, J, Dunn, J, Ebbels, S, Gallagher, A, Gibbs, S, Langton, EG, Grist, M, Hartshorne, M, Huneke, A, Joanisse, M, Kedge, S, Klee, T, Krishnan, S, Lascelles, L, Law, J, Leonard, L, Lynham, S, Arnold, EM, Mathura, N, McCartney, E, McKean, C, McNeill, B, Morgan, A, Murphy, C-A, Norbury, C, O'Hare, A, Cardy, JO, O'Toole, C, Paul, R, Purdy, S, Redmond, S, Reilly, S, Restrepo, L, Rice, M, Slonims, V, Snow, P, Soppitt, R, Speake, J, Spencer, S, Stringer, H, Tager-Flusberg, H, Tannock, R, Taylor, C, Tomblin, B, Volden, J, Westerveld, M, Whitehouse, A, Schiller, NO, Bishop, DVM, Snowling, MJ, Thompson, PA, Greenhalgh, T, Adams, C, Archibald, L, Baird, G, Bauer, A, Bellair, J, Boyle, C, Brownlie, E, Carter, G, Clark, B, Clegg, J, Cohen, N, Conti-Ramsden, G, Dockrell, J, Dunn, J, Ebbels, S, Gallagher, A, Gibbs, S, Langton, EG, Grist, M, Hartshorne, M, Huneke, A, Joanisse, M, Kedge, S, Klee, T, Krishnan, S, Lascelles, L, Law, J, Leonard, L, Lynham, S, Arnold, EM, Mathura, N, McCartney, E, McKean, C, McNeill, B, Morgan, A, Murphy, C-A, Norbury, C, O'Hare, A, Cardy, JO, O'Toole, C, Paul, R, Purdy, S, Redmond, S, Reilly, S, Restrepo, L, Rice, M, Slonims, V, Snow, P, Soppitt, R, Speake, J, Spencer, S, Stringer, H, Tager-Flusberg, H, Tannock, R, Taylor, C, Tomblin, B, Volden, J, Westerveld, M, and Whitehouse, A
- Abstract
Delayed or impaired language development is a common developmental concern, yet there is little agreement about the criteria used to identify and classify language impairments in children. Children's language difficulties are at the interface between education, medicine and the allied professions, who may all adopt different approaches to conceptualising them. Our goal in this study was to use an online Delphi technique to see whether it was possible to achieve consensus among professionals on appropriate criteria for identifying children who might benefit from specialist services. We recruited a panel of 59 experts representing ten disciplines (including education, psychology, speech-language therapy/pathology, paediatrics and child psychiatry) from English-speaking countries (Australia, Canada, Ireland, New Zealand, United Kingdom and USA). The starting point for round 1 was a set of 46 statements based on articles and commentaries in a special issue of a journal focusing on this topic. Panel members rated each statement for both relevance and validity on a seven-point scale, and added free text comments. These responses were synthesised by the first two authors, who then removed, combined or modified items with a view to improving consensus. The resulting set of statements was returned to the panel for a second evaluation (round 2). Consensus (percentage reporting 'agree' or 'strongly agree') was at least 80 percent for 24 of 27 round 2 statements, though many respondents qualified their response with written comments. These were again synthesised by the first two authors. The resulting consensus statement is reported here, with additional summary of relevant evidence, and a concluding commentary on residual disagreements and gaps in the evidence base.
- Published
- 2016
11. Brief Report : DSM-5 Sensory Behaviours in Children With and Without an Autism Spectrum Disorder
- Author
-
Green, Dido, Chandler, S., Charman, T., Simonoff, E., Baird, G., Green, Dido, Chandler, S., Charman, T., Simonoff, E., and Baird, G.
- Abstract
Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual sensory interests) in children aged 10–14 years with (N = 116) or without an ASD but with special educational needs (SEN; N = 72). Atypical sensory behaviour was reported in 92 % of ASD and 67 % of SEN children. Greater sensory dysfunction was associated with increased autism severity (specifically restricted and repetitive behaviours) and behaviour problems (specifically emotional subscore) on teacher and parent Strengths and Difficulties Questionnaires but not with IQ.
- Published
- 2016
- Full Text
- View/download PDF
12. Reply to pembrey et al: 'Znf277 microdeletions, specific language impairment and the meiotic mismatch methylation (3m) hypothesis'
- Author
-
Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P, Bentley, D.R., Martin, H., Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E., Newbury, D.F., Imgsac, ., Consrtium, S.L.I., Consortium, W.G.S., Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P, Bentley, D.R., Martin, H., Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E., Newbury, D.F., Imgsac, ., Consrtium, S.L.I., and Consortium, W.G.S.
- Abstract
Item does not contain fulltext
- Published
- 2015
13. Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment
- Author
-
Villanueva, P., Nudel, R., Hoischen, A., Fernandez, M.A., Simpson, N.H., Gilissen, C., Reader, R.H., Jara, L., Echeverry, M.M., Francks, C., Baird, G., Conti-Ramsden, G., O'Hare, A., Bolton, P.F., Hennessy, E.R., Palomino, H., Carvajal-Carmona, L., Veltman, J.A., Cazier, J.B., Barbieri, Z. De, Fisher, S.E., Newbury, D.F., Villanueva, P., Nudel, R., Hoischen, A., Fernandez, M.A., Simpson, N.H., Gilissen, C., Reader, R.H., Jara, L., Echeverry, M.M., Francks, C., Baird, G., Conti-Ramsden, G., O'Hare, A., Bolton, P.F., Hennessy, E.R., Palomino, H., Carvajal-Carmona, L., Veltman, J.A., Cazier, J.B., Barbieri, Z. De, Fisher, S.E., and Newbury, D.F.
- Abstract
Contains fulltext : 144496.pdf (publisher's version ) (Open Access), Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 x 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.
- Published
- 2015
14. Genome-wide analysis identifies a role for common copy number variants in specific language impairment
- Author
-
Simpson, N.H., Ceroni, F., Reader, R.H., Covill, L.E., Knight, J.C., Hennessy, E.R., Bolton, P.F., Conti-Ramsden, G., O'Hare, A., Baird, G., Fisher, S.E., Newbury, D.F., Consortium, S.L.I., Simpson, N.H., Ceroni, F., Reader, R.H., Covill, L.E., Knight, J.C., Hennessy, E.R., Bolton, P.F., Conti-Ramsden, G., O'Hare, A., Baird, G., Fisher, S.E., Newbury, D.F., and Consortium, S.L.I.
- Abstract
Item does not contain fulltext
- Published
- 2015
15. New interview and observation measures of the broader autism phenotype: Description of strategy and reliability findings for the interview measures
- Author
-
Parr, J., De Jonge, M., Wallace, S., Pickles, A., Rutter, M., Le Couteur, A., van Engeland, H., Wittemeyer, K., Mcconachie, H., Roge, B., Mantoulan, C., Pedersen, L., Isager, T., Poustka, F., Bolte, Sven, Bolton, P., Weisblatt, E., Green, J., Papanikolaou, K., Baird, G., Bailey, A., Parr, J., De Jonge, M., Wallace, S., Pickles, A., Rutter, M., Le Couteur, A., van Engeland, H., Wittemeyer, K., Mcconachie, H., Roge, B., Mantoulan, C., Pedersen, L., Isager, T., Poustka, F., Bolte, Sven, Bolton, P., Weisblatt, E., Green, J., Papanikolaou, K., Baird, G., and Bailey, A.
- Abstract
© 2015 International Society for Autism Research, Wiley Periodicals, Inc. Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and describe the development strategy and findings from the interviews. International Molecular Genetic Study of Autism Consortium data were collected from families containing at least two individuals with autism. Comparison of the informant and self-report interviews was restricted to samples in which the interviews were undertaken by different researchers from that site (251 UK informants, 119 from the Netherlands). Researchers produced vignettes that were rated blind by others. Retest reliability was assessed in 45 participants. Agreement between live scoring and vignette ratings was very high. Retest stability for the interviews was high. Factor analysis indicated a first factor comprising social-communication items and rigidity (but not other repetitive domain items), and a second factor comprised mainly of reading and spelling impairments. Whole scale Cronbach's alphas were high for both interviews. The correlation between interviews for factor 1 was moderate (adult items 0.50; childhood items 0.43); Kappa values for between-interview agreement on individual items were mainly low. The correlations between individual items and total score were moderate. The inclusion of several factor 2 items lowered the overall Cronbach's alpha for the total set. Both interview measures showed good reliability and substantial stability over time, but the findings were better for factor 1 than factor 2. We recommend factor 1 scores be used for characterising the BAP.
- Published
- 2015
16. Integrated rotation systems for soilborne disease, weed and fertility management in strawberry/vegetable production
- Author
-
Zavatta, M, Zavatta, M, Shennan, C, Muramoto, J, Baird, G, Bolda, MP, Koike, ST, Klonsky, K, Zavatta, M, Zavatta, M, Shennan, C, Muramoto, J, Baird, G, Bolda, MP, Koike, ST, and Klonsky, K
- Abstract
Organic strawberry/vegetable producers in coastal California face soilborne disease, nutrient, and weed management challenges. In conventional systems, stringent regulations and air quality concerns make the sustainability of fumigantdependent systems uncertain. To evaluate efficacy of anaerobic soil disinfestation (ASD), mustard cake (MC) application and broccoli residue incorporation, we initiated trials at an organic farm (Org) and a conventional farm (Conv) with crop rotation (broccoli (Brassica oleracea L. italica) - strawberries (Fragaria ananassa), cauliflower (Brassica oleracea L. botrytis) - strawberries, or fallow - strawberries) as main plot in June 2011. Sub plots (ASD, MC, ASD+MC, untreated control (UTC), and fumigant (Pic-Clor 60. Conv only)) were applied prior to strawberry in October 2011. Cover crop and lettuce (Lactuca sativa) were grown after strawberries at Org only. Marketable fruit yield, weed density, and disease level were monitored during the strawberry season and soil inorganic N dynamics for the entire period. ASD+MC and ASD produced similar fruit yields as fumigant at the Conv site. ASD+MC produced greater fruit yield than UTC and MC at both sites and ASD at the Org site. ASD and ASD+MC produced high inorganic N in the soil 2 to 3 months after application at both sites. This caused salt damage on strawberry during early growth especially at Conv which may have reduced fruit yields in both treatments. Verticillium dahliae population in soil at strawberry transplanting was less than 1 microsclerotia/g soil at both sites. However, V. dahliae infection on strawberry plants at the end of the harvest season in Org was reduced by ASD and ASD+MC suggesting that the mechanisms of yield increase by ASD involved disease suppression. Weed suppression by ASD and MC was limited. The effect of broccoli rotation in V. dahliae and weed suppression was also limited and no synergistic effect of broccoli rotation with ASD and MC was observed.
- Published
- 2014
17. Homozygous microdeletion of exon 5 in znf277 in a girl with specific language impairment
- Author
-
Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P, Bentley, D.R., Martin, H., Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E., Newbury, D.F., Imgsac, ., Consortium, S.L.I., Consortium, W.G.S., Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P, Bentley, D.R., Martin, H., Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E., Newbury, D.F., Imgsac, ., Consortium, S.L.I., and Consortium, W.G.S.
- Abstract
Contains fulltext : 133117.pdf (publisher's version ) (Open Access)
- Published
- 2014
18. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
- Author
-
Casey, J.P. Magalhaes, T. Conroy, J.M. Regan, R. Shah, N. Anney, R. Shields, D.C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bolton, P.F. Bourgeron, T. Brennan, S. Cali, P. Correia, C. Corsello, C. Coutanche, M. Dawson, G. De Jonge, M. Delorme, R. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Foley, S. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Green, J. Guter, S.J. Hakonarson, H. Holt, R. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Lamb, J.A. Leboyer, M. Couteur, A.L. Leventhal, B.L. Lord, C. Lund, S.C. Maestrini, E. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Miller, J. Minopoli, F. Mirza, G.K. Munson, J. Nelson, S.F. Nygren, G. Oliveira, G. Pagnamenta, A.T. Papanikolaou, K. Parr, J.R. Parrini, B. Pickles, A. Pinto, D. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Ragoussis, J. Roge, B. Rutter, M.L. Sequeira, A.F. Soorya, L. Sousa, I. Sykes, N. Stoppioni, V. Tancredi, R. Tauber, M. Thompson, A.P. Thomson, S. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Vorstman, J.A.S. Wallace, S. Wang, K. Wassink, T.H. White, K. Wing, K. Wittemeyer, K. Yaspan, B.L. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Geschwind, D.H. Haines, J.L. Hallmayer, J. Monaco, A.P. Nurnberger Jr., J.I. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S. Szatmari, P. Vieland, V.J. Wijsman, E.M. Green, A. Gill, M. Gallagher, L. Vicente, A. Ennis, S. and Casey, J.P. Magalhaes, T. Conroy, J.M. Regan, R. Shah, N. Anney, R. Shields, D.C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bolton, P.F. Bourgeron, T. Brennan, S. Cali, P. Correia, C. Corsello, C. Coutanche, M. Dawson, G. De Jonge, M. Delorme, R. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Foley, S. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Green, J. Guter, S.J. Hakonarson, H. Holt, R. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Lamb, J.A. Leboyer, M. Couteur, A.L. Leventhal, B.L. Lord, C. Lund, S.C. Maestrini, E. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Miller, J. Minopoli, F. Mirza, G.K. Munson, J. Nelson, S.F. Nygren, G. Oliveira, G. Pagnamenta, A.T. Papanikolaou, K. Parr, J.R. Parrini, B. Pickles, A. Pinto, D. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Ragoussis, J. Roge, B. Rutter, M.L. Sequeira, A.F. Soorya, L. Sousa, I. Sykes, N. Stoppioni, V. Tancredi, R. Tauber, M. Thompson, A.P. Thomson, S. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Vorstman, J.A.S. Wallace, S. Wang, K. Wassink, T.H. White, K. Wing, K. Wittemeyer, K. Yaspan, B.L. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Geschwind, D.H. Haines, J.L. Hallmayer, J. Monaco, A.P. Nurnberger Jr., J.I. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S. Szatmari, P. Vieland, V.J. Wijsman, E.M. Green, A. Gill, M. Gallagher, L. Vicente, A. Ennis, S.
- Abstract
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data. © The Author(s) 2011.
- Published
- 2012
19. Individual common variants exert weak effects on the risk for autism spectrum disorders
- Author
-
Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, Sven, Bolton, P., Bourgeron, T., Brennan, S., Brian, J., Casey, J., Conroy, J., Correia, C., Corsello, C., Crawford, E., De jonge, M., Delorme, R., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B., Folstein, S., Fombonne, E., Gilbert, J., Gillberg, C., Glessner, J., Green, A., Green, J., Guter, S., Heron, E., Holt, R., Howe, J., Hughes, G., Hus, V., Igliozzi, R., Jacob, S., Kenny, G., Kim, C., Kolevzon, A., Kustanovich, V., Lajonchere, C., Lamb, J., Law-Smith, M., Leboyer, M., Le couteur, A., Leventhal, B., Liu, X., Lombard, F., Lord, C., Lotspeich, L., Lund, S., Magalhaes, T., Mantoulan, C., McDougle, C., Melhem, N., Merikangas, A., Minshew, N., Mirza, G., Munson, J., Noakes, C., Nygren, G., Papanikolaou, K., Pagnamenta, A., Parrini, B., Paton, T., Pickles, A., Posey, D., Poustka, F., Ragoussis, J., Regan, R., Roberts, W., Roeder, K., Roge, B., Rutter, M., Schlitt, S., Shah, N., Sheffield, V., Soorya, L., Sousa, I., Stoppioni, V., Sykes, N., Tancredi, R., Thompson, A., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J., Volkmar, F., Vorstman, J., Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, Sven, Bolton, P., Bourgeron, T., Brennan, S., Brian, J., Casey, J., Conroy, J., Correia, C., Corsello, C., Crawford, E., De jonge, M., Delorme, R., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B., Folstein, S., Fombonne, E., Gilbert, J., Gillberg, C., Glessner, J., Green, A., Green, J., Guter, S., Heron, E., Holt, R., Howe, J., Hughes, G., Hus, V., Igliozzi, R., Jacob, S., Kenny, G., Kim, C., Kolevzon, A., Kustanovich, V., Lajonchere, C., Lamb, J., Law-Smith, M., Leboyer, M., Le couteur, A., Leventhal, B., Liu, X., Lombard, F., Lord, C., Lotspeich, L., Lund, S., Magalhaes, T., Mantoulan, C., McDougle, C., Melhem, N., Merikangas, A., Minshew, N., Mirza, G., Munson, J., Noakes, C., Nygren, G., Papanikolaou, K., Pagnamenta, A., Parrini, B., Paton, T., Pickles, A., Posey, D., Poustka, F., Ragoussis, J., Regan, R., Roberts, W., Roeder, K., Roge, B., Rutter, M., Schlitt, S., Shah, N., Sheffield, V., Soorya, L., Sousa, I., Stoppioni, V., Sykes, N., Tancredi, R., Thompson, A., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J., Volkmar, F., and Vorstman, J.
- Abstract
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm < 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
- Published
- 2012
20. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
- Author
-
Anney, R.J.L. Kenny, E.M. O'Dushlaine, C. Yaspan, B.L. Parkhomenka, E. Buxbaum, J.D. Sutcliffe, J. Gill, M. Gallagher, L. Bailey, A.J. Fernandez, B.A. Szatmari, P. Scherer, S.W. Patterson, A. Marshall, C.R. Pinto, D. Vincent, J.B. Fombonne, E. Betancur, C. Delorme, R. Leboyer, M. Bourgeron, T. Mantoulan, C. Roge, B. Tauber, M. Freitag, C.M. Poustka, F. Duketis, E. Klauck, S.M. Poustka, A. Papanikolaou, K. Tsiantis, J. Bolshakova, N. Brennan, S. Hughes, G. McGrath, J. Merikangas, A. Ennis, S. Green, A. Casey, J.P. Conroy, J.M. Regan, R. Shah, N. Maestrini, E. Bacchelli, E. Minopoli, F. Stoppioni, V. Battaglia, A. Igliozzi, R. Parrini, B. Tancredi, R. Oliveira, G. Almeida, J. Duque, F. Vicente, A. Correia, C. Magalhaes, T.R. Gillberg, C. Nygren, G. De Jonge, M. Van Engeland, H. Vorstman, J.A.S. Wittemeyer, K. Baird, G. Bolton, P.F. Rutter, M.L. Green, J. Lamb, J.A. Pickles, A. Parr, J.R. Le Couteur, A. Berney, T. McConachie, H. Wallace, S. Coutanche, M. Foley, S. White, K. Monaco, A.P. Holt, R. Farrar, P. Pagnamenta, A.T. Mirza, G.K. Ragoussis, J. Sousa, I. Sykes, N. Wing, K. Hallmayer, J. Cantor, R.M. Nelson, S.F. Geschwind, D.H. Abrahams, B.S. Volkmar, F. Pericak-Vance, M.A. Cuccaro, M.L. Gilbert, J. Cook, E.H. Guter, S.J. Jacob, S. Nurnberger, J.I., Jr. McDougle, C.J. Posey, D.J. Lord, C. Corsello, C. Hus, V. Kolevzon, A. Soorya, L. Parkhomenko, E. Leventhal, B.L. Dawson, G. Vieland, V.J. Hakonarson, H. Glessner, J.T. Kim, C. Wang, K. Schellenberg, G.D. Devlin, B. Klei, L. Minshew, N. Sutcliffe, J.S. Haines, J.L. Lund, S.C. Thomson, S. Coon, H. Miller, J. McMahon, W.M. Munson, J. Estes, A. Wijsman, E.M. Autism Genome Project and Anney, R.J.L. Kenny, E.M. O'Dushlaine, C. Yaspan, B.L. Parkhomenka, E. Buxbaum, J.D. Sutcliffe, J. Gill, M. Gallagher, L. Bailey, A.J. Fernandez, B.A. Szatmari, P. Scherer, S.W. Patterson, A. Marshall, C.R. Pinto, D. Vincent, J.B. Fombonne, E. Betancur, C. Delorme, R. Leboyer, M. Bourgeron, T. Mantoulan, C. Roge, B. Tauber, M. Freitag, C.M. Poustka, F. Duketis, E. Klauck, S.M. Poustka, A. Papanikolaou, K. Tsiantis, J. Bolshakova, N. Brennan, S. Hughes, G. McGrath, J. Merikangas, A. Ennis, S. Green, A. Casey, J.P. Conroy, J.M. Regan, R. Shah, N. Maestrini, E. Bacchelli, E. Minopoli, F. Stoppioni, V. Battaglia, A. Igliozzi, R. Parrini, B. Tancredi, R. Oliveira, G. Almeida, J. Duque, F. Vicente, A. Correia, C. Magalhaes, T.R. Gillberg, C. Nygren, G. De Jonge, M. Van Engeland, H. Vorstman, J.A.S. Wittemeyer, K. Baird, G. Bolton, P.F. Rutter, M.L. Green, J. Lamb, J.A. Pickles, A. Parr, J.R. Le Couteur, A. Berney, T. McConachie, H. Wallace, S. Coutanche, M. Foley, S. White, K. Monaco, A.P. Holt, R. Farrar, P. Pagnamenta, A.T. Mirza, G.K. Ragoussis, J. Sousa, I. Sykes, N. Wing, K. Hallmayer, J. Cantor, R.M. Nelson, S.F. Geschwind, D.H. Abrahams, B.S. Volkmar, F. Pericak-Vance, M.A. Cuccaro, M.L. Gilbert, J. Cook, E.H. Guter, S.J. Jacob, S. Nurnberger, J.I., Jr. McDougle, C.J. Posey, D.J. Lord, C. Corsello, C. Hus, V. Kolevzon, A. Soorya, L. Parkhomenko, E. Leventhal, B.L. Dawson, G. Vieland, V.J. Hakonarson, H. Glessner, J.T. Kim, C. Wang, K. Schellenberg, G.D. Devlin, B. Klei, L. Minshew, N. Sutcliffe, J.S. Haines, J.L. Lund, S.C. Thomson, S. Coon, H. Miller, J. McMahon, W.M. Munson, J. Estes, A. Wijsman, E.M. Autism Genome Project
- Abstract
Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings. © 2011 Macmillan Publishers Limited All rights reserved.
- Published
- 2011
21. Early developmental regression in autism spectrum disorder: Evidence from an international multiplex sample
- Author
-
Parr, J., Le Couteur, A., Baird, G., Rutter, M., Pickles, A., Fombonne, E., Bailey, A., Wallace, S., Wittemeyer, K., Monaco, A., Barnby, G., Bolton, P., Moore, J., Murin, M., McConachie, H., Berney, T., Docherty, Z., Abbs, S., Ogilvie, C., Warburton, P., Lamb, J., Green, J., Bolton, B., Packer, R., Haracopos, D., Pedersen, L., Isager, T., Brondum-Nielsen, K., Roge, B., Tauber, M., Mantoulan, C., Poustka, F., Bölte, Sven, Feineis-Matthews, S., Rühl, D., Schmötzer, G., Poustka, A., Klauck, S., Tsiantis, J., Papanikolaou, K., Maestrini, E., Van Engeland, H., De Jonge, M., Lord, C., Corsello, C., Cook, E., Salt, J., Guter, S., Leventhal, B., Volkmar, F., Koenig, K., Parr, J., Le Couteur, A., Baird, G., Rutter, M., Pickles, A., Fombonne, E., Bailey, A., Wallace, S., Wittemeyer, K., Monaco, A., Barnby, G., Bolton, P., Moore, J., Murin, M., McConachie, H., Berney, T., Docherty, Z., Abbs, S., Ogilvie, C., Warburton, P., Lamb, J., Green, J., Bolton, B., Packer, R., Haracopos, D., Pedersen, L., Isager, T., Brondum-Nielsen, K., Roge, B., Tauber, M., Mantoulan, C., Poustka, F., Bölte, Sven, Feineis-Matthews, S., Rühl, D., Schmötzer, G., Poustka, A., Klauck, S., Tsiantis, J., Papanikolaou, K., Maestrini, E., Van Engeland, H., De Jonge, M., Lord, C., Corsello, C., Cook, E., Salt, J., Guter, S., Leventhal, B., Volkmar, F., and Koenig, K.
- Abstract
The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself. © Springer Science+Business Media, LLC 2010.
- Published
- 2011
22. A genome-wide scan for common alleles affecting risk for autism
- Author
-
Anney, R. Klei, L. Pinto, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Sykes, N. Pagnamenta, A.T. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Carson, A.R. Casallo, G. Casey, J. Chu, S.H. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Dawson, G. de Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Melhem, N.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Wing, K. Wittemeyer, K. Wood, S. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Gallagher, L. Geschwind, D.H. Gill, M. Haines, J.L. Miller, J. Monaco, A.P. Nurnberger Jr., J.I. Paterson, A.D. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S. and Anney, R. Klei, L. Pinto, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Sykes, N. Pagnamenta, A.T. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Carson, A.R. Casallo, G. Casey, J. Chu, S.H. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Dawson, G. de Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Melhem, N.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Wing, K. Wittemeyer, K. Wood, S. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Gallagher, L. Geschwind, D.H. Gill, M. Haines, J.L. Miller, J. Monaco, A.P. Nurnberger Jr., J.I. Paterson, A.D. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S.
- Abstract
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 3 10-28. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10-28 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. © The Author 2010. Published by Oxford University Press. All rights reserved.
- Published
- 2010
23. Functional impact of global rare copy number variation in autism spectrum disorders
- Author
-
Pinto, D. Pagnamenta, A.T. Klei, L. Anney, R. Merico, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bader, G.D. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Bryson, S.E. Carson, A.R. Casallo, G. Casey, J. Chung, B.H.Y. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Cytrynbaum, C. Dawson, G. De Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, A. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Pilorge, M. Piven, J. Ponting, C.P. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Sequeira, A.F. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stein, O. Sykes, N. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Webber, C. Weksberg, R. Wing, K. Wittemeyer, K. Wood, S. Wu, J. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Devlin, B. Ennis, S. Gallagher, L. Geschwind, D.H. Gill, M. and Pinto, D. Pagnamenta, A.T. Klei, L. Anney, R. Merico, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bader, G.D. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Bryson, S.E. Carson, A.R. Casallo, G. Casey, J. Chung, B.H.Y. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Cytrynbaum, C. Dawson, G. De Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, A. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Pilorge, M. Piven, J. Ponting, C.P. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Sequeira, A.F. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stein, O. Sykes, N. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Webber, C. Weksberg, R. Wing, K. Wittemeyer, K. Wood, S. Wu, J. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Devlin, B. Ennis, S. Gallagher, L. Geschwind, D.H. Gill, M.
- Abstract
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours 1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability2. Although ASDs are known to be highly heritable ( ∼90%)3, the underlying genetic determinants are still largely unknown.Hereweanalysed the genome-wide characteristics of rare (<1%frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASDand/or intellectual disability (1.69 fold, P=3.4×310-4). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways. © 2010 Macmillan Publishers Limited. All rights reserved.
- Published
- 2010
24. Institute of Languages, University of New South Wales, Sydney, NSW, Australia
- Author
-
Baird, G, Thomas, LE, Baird, G, and Thomas, LE
- Abstract
NA
- Published
- 2010
25. Torrent Research Centre, Ahmedabad, Gujarat, India
- Author
-
Baird, G, Thomas, LE, Baird, G, and Thomas, LE
- Abstract
The Torrent Research Centre building in Ahmedabad was completed and fully occupied in 1997 as the new research facilities for Torrent Pharmaceuticals Ltd (Figure 31,1). The building design has achieved national awards including the 2000 JIIA-ANCHOR Award for excellence in Public Architecture as weJl as the Indian Architect and Builder 'Designing for Corporate Culture' Award 2004 and has been widely reported for its energy-efficient and passive solar design (Baird, 2001;Majumdar, 2001). Originally designed for 150 staff, the bUilding now accommodates over 300, some working in shifts (Figure 31.2)
- Published
- 2010
26. A genome-wide linkage and association scan reveals novel loci for autism
- Author
-
Weiss, L.A. Arking, D.E. Daly, M.J. Chakravarti, A. Brune, C.W. West, K. O'Connor, A. Hilton, G. Tomlinson, R.L. West, A.B. Cook Jr., E.H. Green, T. Chang, S.-C. Gabriel, S. Gates, C. Hanson, E.M. Kirby, A. Korn, J. Kuruvilla, F. McCarroll, S. Morrow, E.M. Neale, B. Purcell, S. Sasanfar, R. Sougnez, C. Stevens, C. Altshuler, D. Gusella, J. Santangelo, S.L. Sklar, P. Tanzi, R. Anney, R. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Betancur, C. Bölte, S. Bolton, P.F. Brian, J. Bryson, S.E. Buxbaum, J.D. Cabrito, I. Cai, G. Cantor, R.M. Coon, H. Conroy, J. Correia, C. Corsello, C. Crawford, E.L. Cuccaro, M.L. Dawson, G. De Jonge, M. Devlin, B. Duketis, E. Ennis, S. Estes, A. Farrar, P. Fombonne, E. Freitag, C.M. Gallagher, L. Geschwind, D.H. Gilbert, J. Gill, M. Gillberg, C. Goldberg, J. Green, A. Green, J. Guter, S.J. Haines, J.L. Hallmayer, J.F. Hus, V. Klauck, S.M. Korvatska, O. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventha, B.L. Liu, X.-Q. Lord, C. Lotspeich, L.J. Maestrini, E. Magalhaes, T. Mahoney, W. Mantoulan, C. McConachie, H. McDougle, C.J. McMahon, W.M. Marshall, C.R. Miller, J. Minshew, N.J. Monaco, A.P. Munson, J. Nurnberger Jr., J.I. Oliveira, G. Pagnamenta, A. Papanikolaou, K. Parr, J.R. Paterson, A.D. Pericak-Vance, M.A. Pickles, A. Pinto, D. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Regan, R. Reichert, J. Renshaw, K. Roberts, W. Roge, B. Rutter, M.L. Salt, J. Schellenberg, G.D. Scherer, S.W. Sheffield, V. Sutcliffe, J.S. Szatmari, P. Tansey, K. Thompson, A.P. Tsiantis, J. Van Engeland, H. Vicente, A.M. Vieland, V.J. Volkmar, F. Wallace, S. Wassink, T.H. Wijsman, E.M. Wing, K. Wittemeyer, K. Yaspan, B.L. Zwaigenbaum, L. Yoo, S.-Y. Hill, R.S. Mukaddes, N.M. Balkhy, S. Gascon, G. Al-Saad, S. Hashmi, A. Ware, J. Joseph, R.M. LeClair, E. Partlow, J.N. Barry, B. Walsh, C.A. Pauls, D. Moilanen, I. Ebeling, H. Mattila, M.-L. Kuusikko, S. Jussila, K. Ignatius, J. Tolouei, A. Ghadami, M. Rostami, M. Hosseinipour, A. Valujerdi, M. Andre and Weiss, L.A. Arking, D.E. Daly, M.J. Chakravarti, A. Brune, C.W. West, K. O'Connor, A. Hilton, G. Tomlinson, R.L. West, A.B. Cook Jr., E.H. Green, T. Chang, S.-C. Gabriel, S. Gates, C. Hanson, E.M. Kirby, A. Korn, J. Kuruvilla, F. McCarroll, S. Morrow, E.M. Neale, B. Purcell, S. Sasanfar, R. Sougnez, C. Stevens, C. Altshuler, D. Gusella, J. Santangelo, S.L. Sklar, P. Tanzi, R. Anney, R. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Betancur, C. Bölte, S. Bolton, P.F. Brian, J. Bryson, S.E. Buxbaum, J.D. Cabrito, I. Cai, G. Cantor, R.M. Coon, H. Conroy, J. Correia, C. Corsello, C. Crawford, E.L. Cuccaro, M.L. Dawson, G. De Jonge, M. Devlin, B. Duketis, E. Ennis, S. Estes, A. Farrar, P. Fombonne, E. Freitag, C.M. Gallagher, L. Geschwind, D.H. Gilbert, J. Gill, M. Gillberg, C. Goldberg, J. Green, A. Green, J. Guter, S.J. Haines, J.L. Hallmayer, J.F. Hus, V. Klauck, S.M. Korvatska, O. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventha, B.L. Liu, X.-Q. Lord, C. Lotspeich, L.J. Maestrini, E. Magalhaes, T. Mahoney, W. Mantoulan, C. McConachie, H. McDougle, C.J. McMahon, W.M. Marshall, C.R. Miller, J. Minshew, N.J. Monaco, A.P. Munson, J. Nurnberger Jr., J.I. Oliveira, G. Pagnamenta, A. Papanikolaou, K. Parr, J.R. Paterson, A.D. Pericak-Vance, M.A. Pickles, A. Pinto, D. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Regan, R. Reichert, J. Renshaw, K. Roberts, W. Roge, B. Rutter, M.L. Salt, J. Schellenberg, G.D. Scherer, S.W. Sheffield, V. Sutcliffe, J.S. Szatmari, P. Tansey, K. Thompson, A.P. Tsiantis, J. Van Engeland, H. Vicente, A.M. Vieland, V.J. Volkmar, F. Wallace, S. Wassink, T.H. Wijsman, E.M. Wing, K. Wittemeyer, K. Yaspan, B.L. Zwaigenbaum, L. Yoo, S.-Y. Hill, R.S. Mukaddes, N.M. Balkhy, S. Gascon, G. Al-Saad, S. Hashmi, A. Ware, J. Joseph, R.M. LeClair, E. Partlow, J.N. Barry, B. Walsh, C.A. Pauls, D. Moilanen, I. Ebeling, H. Mattila, M.-L. Kuusikko, S. Jussila, K. Ignatius, J. Tolouei, A. Ghadami, M. Rostami, M. Hosseinipour, A. Valujerdi, M. Andre
- Abstract
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 × 10-7). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.
- Published
- 2009
27. Impairment in movement skills of children with autistic spectrum disorders
- Author
-
Green, Dido, Charman, T., Pickles, A., Chandler, S., Loucas, T., Simonoff, E., Baird, G., Green, Dido, Charman, T., Pickles, A., Chandler, S., Loucas, T., Simonoff, E., and Baird, G.
- Abstract
Aim: We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Methods: Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n = 101: 89 males, 12 females; mean age 11 y 4 mo, SD 10 mo; range 10 y-14 y 3 mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n = 97 with complete M-ABCs and DCDQs). Results: Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties. Interretation: Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.
- Published
- 2009
- Full Text
- View/download PDF
28. Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- Author
-
Szatmari, P. Paterson, A.D. Zwaigenbaum, L. Roberts, W. Brian, J. Liu, X.-Q. Vincent, J.B. Skaug, J.L. Thompson, A.P. Senman, L. Feuk, L. Qian, C. Bryson, S.E. Jones, M.B. Marshall, C.R. Scherer, S.W. Vieland, V.J. Bartlett, C. Mangin, L.V. Goedken, R. Segre, A. Pericak-Vance, M.A. Cuccaro, M.L. Gilbert, J.R. Wright, H.H. Abramson, R.K. Betancur, C. Bourgeron, T. Gillberg, C. Leboyer, M. Buxbaum, J.D. Davis, K.L. Hollander, E. Silverman, J.M. Hallmayer, J. Lotspeich, L. Sutcliffe, J.S. Haines, J.L. Folstein, S.E. Piven, J. Wassink, T.H. Sheffield, V. Geschwind, D.H. Bucan, M. Brown, W.T. Cantor, R.M. Constantino, J.N. Gilliam, T.C. Herbert, M. LaJonchere, C. Ledbetter, D.H. Lese-Martin, C. Miller, J. Nelson, S. Samango-Sprouse, C.A. Spence, S. State, M. Tanzi, R.E. Coon, H. Dawson, G. Devlin, B. Estes, A. Flodman, P. Klei, L. McMahon, W.M. Minshew, N. Munson, J. Korvatska, E. Rodier, P.M. Schellenberg, G.D. Smith, M. Spence, M.A. Stodgell, C. Tepper, P.G. Wijsman, E.M. Yu, C.-E. Rogé, B. Mantoulan, C. Wittemeyer, K. Poustka, A. Felder, B. Klauck, S.M. Schuster, C. Poustka, F. Bölte, S. Feineis-Matthews, S. Herbrecht, E. Schmötzer, G. Tsiantis, J. Papanikolaou, K. Maestrini, E. Bacchelli, E. Blasi, F. Carone, S. Toma, C. Van Engeland, H. De Jonge, M. Kemner, C. Koop, F. Langemeijer, M. Hijimans, C. Staal, W.G. Baird, G. Bolton, P.F. Rutter, M.L. Weisblatt, E. Green, J. Aldred, C. Wilkinson, J.-A. Pickles, A. Le Couteur, A. Berney, T. McConachie, H. Bailey, A.J. Francis, K. Honeyman, G. Hutchinson, A. Parr, J.R. Wallace, S. Monaco, A.P. Barnby, G. Kobayashi, K. Lamb, J.A. Sousa, I. Sykes, N. Cook, E.H. Guter, S.J. Leventhal, B.L. Salt, J. Lord, C. Corsello, C. Hus, V. Weeks, D.E. Volkmar, F. Tauber, M. Fombonne, E. Shih, A. and Szatmari, P. Paterson, A.D. Zwaigenbaum, L. Roberts, W. Brian, J. Liu, X.-Q. Vincent, J.B. Skaug, J.L. Thompson, A.P. Senman, L. Feuk, L. Qian, C. Bryson, S.E. Jones, M.B. Marshall, C.R. Scherer, S.W. Vieland, V.J. Bartlett, C. Mangin, L.V. Goedken, R. Segre, A. Pericak-Vance, M.A. Cuccaro, M.L. Gilbert, J.R. Wright, H.H. Abramson, R.K. Betancur, C. Bourgeron, T. Gillberg, C. Leboyer, M. Buxbaum, J.D. Davis, K.L. Hollander, E. Silverman, J.M. Hallmayer, J. Lotspeich, L. Sutcliffe, J.S. Haines, J.L. Folstein, S.E. Piven, J. Wassink, T.H. Sheffield, V. Geschwind, D.H. Bucan, M. Brown, W.T. Cantor, R.M. Constantino, J.N. Gilliam, T.C. Herbert, M. LaJonchere, C. Ledbetter, D.H. Lese-Martin, C. Miller, J. Nelson, S. Samango-Sprouse, C.A. Spence, S. State, M. Tanzi, R.E. Coon, H. Dawson, G. Devlin, B. Estes, A. Flodman, P. Klei, L. McMahon, W.M. Minshew, N. Munson, J. Korvatska, E. Rodier, P.M. Schellenberg, G.D. Smith, M. Spence, M.A. Stodgell, C. Tepper, P.G. Wijsman, E.M. Yu, C.-E. Rogé, B. Mantoulan, C. Wittemeyer, K. Poustka, A. Felder, B. Klauck, S.M. Schuster, C. Poustka, F. Bölte, S. Feineis-Matthews, S. Herbrecht, E. Schmötzer, G. Tsiantis, J. Papanikolaou, K. Maestrini, E. Bacchelli, E. Blasi, F. Carone, S. Toma, C. Van Engeland, H. De Jonge, M. Kemner, C. Koop, F. Langemeijer, M. Hijimans, C. Staal, W.G. Baird, G. Bolton, P.F. Rutter, M.L. Weisblatt, E. Green, J. Aldred, C. Wilkinson, J.-A. Pickles, A. Le Couteur, A. Berney, T. McConachie, H. Bailey, A.J. Francis, K. Honeyman, G. Hutchinson, A. Parr, J.R. Wallace, S. Monaco, A.P. Barnby, G. Kobayashi, K. Lamb, J.A. Sousa, I. Sykes, N. Cook, E.H. Guter, S.J. Leventhal, B.L. Salt, J. Lord, C. Corsello, C. Hus, V. Weeks, D.E. Volkmar, F. Tauber, M. Fombonne, E. Shih, A.
- Abstract
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. © 2007 Nature Publishing Group.
- Published
- 2007
29. A pilot study of psychopathology in Developmental Coordination Disorder
- Author
-
Green, Dido, Baird, G., Sugden, D., Green, Dido, Baird, G., and Sugden, D.
- Abstract
Background: This paper explores the prevalence of emotional and behavioural disorders in children referred to a Community Paediatric Occupational Therapy service for assessment and treatment of problems with development of motor skills. Methods: Parents of 47 children from a clinical sample of children who had been identified with Developmental Coordination Disorder (DCD) returned the Strengths and Difficulties Questionnaire (SDQ) - a brief measure of the pro-social behaviour and psychopathology that can be completed by parents, teachers or youths. Results: Significant emotional and behavioural problems were reported by 29 parents (62%) with a further six (13%) reporting problems in the borderline range. Seven children (15%) were without significant problems in one or more area although only four of these (9%) were outside the borderline range for all of the sub-domains of the SDQ. Discussion: A significant proportion of children with DCD were reported by their parents to be at risk of psychopathology. Further research is needed to understand the relationship between motor difficulties and emotional and behavioural symptoms; however, it is recommended that interventions for children with DCD should support mental health and behavioural problems as well as motor development.
- Published
- 2006
- Full Text
- View/download PDF
30. Post-occupancy evaluation of passive downdraft evaporative cooling and air-conditioned buildings at Torrent Research Centre, Ahmedabad, India
- Author
-
Shannon, S, Soebarto, V, Williamson, T, Thomas, LE, Baird, G, Shannon, S, Soebarto, V, Williamson, T, Thomas, LE, and Baird, G
- Published
- 2006
31. Is questionnaire-based screening part of the solution to waiting lists for children with developmental coordination disorder?
- Author
-
Green, Dido, Bishop, T., Wilson, B. N., Crawford, S., Hooper, R., Kaplan, B., Baird, G., Green, Dido, Bishop, T., Wilson, B. N., Crawford, S., Hooper, R., Kaplan, B., and Baird, G.
- Abstract
This study was undertaken to determine whether questionnaire-based screening could be part of the solution to a long waiting list of referrals for occupational therapy assessment by identifying the requirement for clinical assessments. The performance of two questionnaires - the Developmental Coordination Disorder Questionnaire (DCDQ) completed by parents and the Checklist of the Movement Assessment Battery for Children (C-ABC) completed by teachers - was compared with a more traditional clinical assessment for the identification of DCD in children already referred to occupational therapy. It was found that the parent report was quite reliable in the identification of DCD if no other developmental problem was present. However, there was little benefit to using the teacher report to screen children. Several confounding variables, including an unequal proportion of children with DCD in the sample and the inclusion of children who were younger than the age range of the DCDQ, may have influenced how well the questionnaires performed. Although questionnaires cannot replace a full clinical assessment, the results showed that there may be some value in including the parent report in the identification of DCD.
- Published
- 2005
32. In situ stress measurement using acoustic emission from cored rock.
- Author
-
Villaescusa E, Proceedings, 150 years of mining, AusIMM 2002 conference Auckland, New Zealand 01-Sep-0204-Sep-02, Baird G., Seto M, Villaescusa E, Proceedings, 150 years of mining, AusIMM 2002 conference Auckland, New Zealand 01-Sep-0204-Sep-02, Baird G., and Seto M
- Abstract
Reliable evaluation of in situ stress is an important phase in the analysis and design of underground excavations, particularly for evaluating the stability of underground structures to prevent failure or collapse. Methods such as over-coring and hydraulic fracturing are usually expensive and time consuming; and are not suited to stress measurements at depth in remote regions. A number of mines in Western Australia are operating at increasing depth with resulting high stress, and several mines are experiencing relatively high horizontal in-situ stress fields at relatively shallow depths. A stress measurement technique based on acoustic emission, the Kaiser effect, is described which allows the estimation of stresses using oriented core that can be drilled from remote and undeveloped areas of a mine. Six small cylindrical samples of rock are under-cored from conventional oriented drill core recovered from the site for which stress data is sought. Each sample is instrumented with a pair of acoustic emission transducers. The samples are then loaded uniaxially with the acoustic emission transducers providing a record of the number of acoutic emission events with increasing load and hence stress. The acoustic emission information from the six samples is analysed to give six independent normal stresses from which the full stress tensors can be obtained. Case studies are presented for the Kundana and Mount Marion mines, and the results showed good agreement with those obtained using a conventional technique., Reliable evaluation of in situ stress is an important phase in the analysis and design of underground excavations, particularly for evaluating the stability of underground structures to prevent failure or collapse. Methods such as over-coring and hydraulic fracturing are usually expensive and time consuming; and are not suited to stress measurements at depth in remote regions. A number of mines in Western Australia are operating at increasing depth with resulting high stress, and several mines are experiencing relatively high horizontal in-situ stress fields at relatively shallow depths. A stress measurement technique based on acoustic emission, the Kaiser effect, is described which allows the estimation of stresses using oriented core that can be drilled from remote and undeveloped areas of a mine. Six small cylindrical samples of rock are under-cored from conventional oriented drill core recovered from the site for which stress data is sought. Each sample is instrumented with a pair of acoustic emission transducers. The samples are then loaded uniaxially with the acoustic emission transducers providing a record of the number of acoutic emission events with increasing load and hence stress. The acoustic emission information from the six samples is analysed to give six independent normal stresses from which the full stress tensors can be obtained. Case studies are presented for the Kundana and Mount Marion mines, and the results showed good agreement with those obtained using a conventional technique.
- Published
- 2002
33. The severity and nature of motor impairment in Asperger's syndrome : A comparison with Specific Developmental Disorder of Motor Function
- Author
-
Green, Dido, Baird, G., Barnett, A. L., Henderson, L., Huber, J., Henderson, S. E., Green, Dido, Baird, G., Barnett, A. L., Henderson, L., Huber, J., and Henderson, S. E.
- Abstract
Background: The aims of this study were to measure objectively the extent and severity of motor impairment in children with Asperger's syndrome and to determine whether the motor difficulties experienced by such children differed in any way from those classified as having a Specific Developmental Disorder of Motor Function (SDD-MF). Criteria derived from ICD 10-R were used to identify 11 children with Asperger's syndrome and a matched group of 9 children with a Specific Developmental Disorder of Motor Function. Children in both groups were required to have a verbal IQ of 80 or greater on the WISC IIIR. Method: The Autism Diagnostic Interview (Revised; Lord, Rutter, & LeCouteur, 1994) was used to identify features of AS in the first group and to exclude them in the latter. The Movement Assessment Battery for Children (Henderson & Sugden, 1992) provided a standardised test of motor impairment. A Gesture Test based on that by Cermak, Coster, and Drake (1980) was used to assess the child's ability to mime the use of familiar tools and to imitate meaningless sequences of movements. Results: All the children with Asperger's syndrome turned out to meet our criterion for a diagnosis of motor impairment, five of the six most severely motor impaired children in the whole study being from this group. Performance of the Asperger group was also slightly poorer on the Gesture Test. The profile of performance on each test was examined in detail but no evidence of group differences in the pattern of impairment was found. Conclusions: This study is consistent with others suggesting a high prevalence of clumsiness in Asperger's syndrome. Our findings also attest to the widespread prevalence of motor impairment in developmental disorders and the problems such co-morbidity poses for attempts to posit discrete and functionally coherent impairments underlying distinct syndromes.
- Published
- 2002
- Full Text
- View/download PDF
34. Letter from G. W. Baird to William Loeb (1907-09-14)
- Author
-
Baird, G. W., Baird, G. W., Baird, G. W., and Baird, G. W.
- Abstract
G. W. Baird informs William Loeb that he has papers supposedly pertaining to William McKinley's assassination. A Roman Catholic woman presented the papers to the Grand Master of the Freemasons in Washington, D.C., claiming that the Romans had assisted in assassinating McKinley. Baird has kept the matter confidential, but has not found anything one way or the other. He says he will do whatever President Roosevelt wants with the papers.
- Published
- 1907
35. The Bugle, 1895
- Author
-
Baird, G. T., Angell, Joseph, Baird, G. T., and Angell, Joseph
- Abstract
Yearbook for Virginia Agricultural and Mechanical College in Blacksburg, Virginia. The school would later become known as Virginia Tech. The yearbook includes information about the school as well as photographs and illustrations of the student body, teachers, organizations, and buildings.
- Published
- 1895
36. Shaft resistance: The effects of the cages
- Author
-
Baird, G and Baird, G
- Published
- 1963
37. Shaft resistance: The effects of the cages
- Author
-
Baird, G and Baird, G
- Abstract
A critical review of the literature is made in which attention is foot on the efforts of previous workers to produce theoretical analyses of cage related problems. Their results are briefly discussed. The model shaft and one stationary cage tests are than described. The accuracy of the airflow measurements was ascertained end the validity of using the Pressure Drop Coefficient (P.D.C.) was chocked. Interference effects between the cage and buntons had a profound influence on the vane of the cage P.D.C., this effect varying for different types of bunton arrangement. It was shown aloe, that the cage P.D.C. may be assumed constant) whatever its position in the (unlined) duct. In Section 41 the Pressure Drop Theory of Dr. Rynear in conjunction with whoa some of this work was carried out) is presented. Formulae are proposed which define the P.D.C. of both single cage and two cages in the side-by-side position at their passing place in the shaft. Both stationary and moving cages are considered. These equations defining the P.D.C.'s for stationary cages were verified using the results of three previous workers and a correlation coefficient of 0.94 was obtained for the 2 types of model cage considered. Section 50 after a description of the pressure recording equipment, deals with some model teats on moving cages. Recordings wore made which showed the effect of the bunton spacing on a test length pressure drop with a cage moving in it. Those indicated that the effect on the accuracy of the recording diminished in the cage speed to air velocity ratio increased. The reduction in airflow as the cages passed was shown to be more accurately detectable by moans of a centrally positioned pitot-static tube than by the flomoter itself, whose readings fluctuated greatly. An attempt was also made to evaluate the theoretically predicted increase in P.D.C. of the two cage passing, when they were in the side-by-side position, compared with the stationary value, but no detectable differenc
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.