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1. Relationship between maternal serotonin levels and autism-associated genetic variants

Author

Jutla, Amandeep, Shuffrey, Lauren C., Guter, Stephen J., O'Reilly, Kally C., Anderson, George M., Sutcliffe, James S., Cook, Edwin H., and Veenstra-VanderWeele, Jeremy

Abstract

To the Editor: The serotonin system is implicated in neurodevelopment. For example, maternal disruption of serotonin genes in rodents produces offspring neurodevelopmental changes (1). In humans, lower maternal whole blood [...]

Published
2024

3. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Author

Fu, Jack M., Satterstrom, F. Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L., Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P., Stevens, Christine R., Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B., Gauthier, Laura, Lee, Samuel K., Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N., Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian H. Y., Cook, Edwin H., Cuccaro, Michael L., Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J. Jay, Herman, Gail E., Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S., Passos-Bueno, Maria Rita, Persico, Antonio M., Renieri, Alessandra, Sutcliffe, James S., Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus C. Y., Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N., Schmidt, Rebecca J., Smith, Moyra, Costa, Claudia I. S., Trajkova, Slavica, Wang, Jaqueline Y. T., Yu, Mullin H. C., Cutler, David J., De Rubeis, Silvia, Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J., and Talkowski, Michael E.

Published
2022
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5. Long COVID-19 and Peripheral Serotonin: A Commentary and Reconsideration.

Author

Anderson, George M, Cook, Edwin H, Blakely, Randy D, Sutcliffe, James S, and Veenstra-VanderWeele, Jeremy

Subjects
POST-acute COVID-19 syndrome, SEROTONIN, SEROTONIN uptake inhibitors, BLOOD platelet aggregation, SEROTONIN transporters
Abstract

We believe there are serious problems with a recently published and highly publicized paper entitled "Serotonin reduction in post-acute sequelae of viral infection." The blood centrifugation procedure reportedly used by Wong et al would produce plasma that is substantially (over 95%) depleted of platelets. Given this, their published mean plasma serotonin values of 1.2 uM and 2.4 uM for the control/contrast groups appear to be at least 30 to 60 times too high and should be disregarded. The plasma serotonin values reported for the long COVID and viremia patients also should be disregarded, as should any comparisons to the control/contrast groups. We also note that the plasma serotonin means for the two control/contrast groups are not in good agreement. In the "Discussion" section, Wong et al state that their results tend to support the use of selective serotonin reuptake inhibitors (SSRIs) for the treatment of COVID-19, and they encourage further clinical trials of SSRIs. While they state that, "Our animal models demonstrate that serotonin levels can be restored and memory impairment reversed by precursor supplementation or SSRI treatment", it should be noted that no data are presented showing an increase or restoration in circulating serotonin with SSRI administration. In fact, one would expect a marked decline in platelet serotonin due to SSRIs' effective inhibition of the platelet serotonin transporter. Wong et al hypothesize that problems of long COVID arise from too little peripheral serotonin. However, given the frequent presence of a hyperaggregation state in long COVID, and the known augmenting effects of platelet serotonin on platelet aggregation, it is plausible to suggest that reductions in platelet serotonin might be associated with a lessening of the cardiovascular sequelae of COVID-19. [ABSTRACT FROM AUTHOR]

Published
2024
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10. CYP2A6 Longitudinal Effects in Young Smokers

Author

Cannon, Dale S., Medina, Tait R., Mermelstein, Robin J., Hedeker, Donald, Bakian, Amanda V., Coon, Hilary, Cook, Edwin H., Hamil, Cindy, and Weiss, Robert B.

Published
2016

11. Aggression in Children with Autism Spectrum Disorders and a Clinic-Referred Comparison Group

Author

Farmer, Cristan, Butter, Eric, Mazurek, Micah O., Cowan, Charles, Lainhart, Janet, Cook, Edwin H., DeWitt, Mary Beth, and Aman, Michael

Abstract

A gap exists in the literature regarding aggression in autism spectrum disorders and how this behavior compares to other groups. In this multisite study, the "Children's Scale for Hostility and Aggression: Reactive/Proactive" and the Aggression subscale of the "Child Behavior Checklist" were rated for 414 children with autism spectrum disorder (autistic disorder, 69%; pervasive developmental disorder not otherwise specified, 24%; Asperger's disorder, 7%) and 243 clinic-referred children without autism spectrum disorder, aged 1-21 years (mean age about 7 years). Participants were not selected for aggressive behavior. Relative to the comparison group, children with autism spectrum disorder were reported to have less aggression and were more likely to be rated as reactive rather than proactive. Among all subjects, sex was not associated with aggression; higher IQ/adaptive behavior and older age were associated with more sophisticated types of aggression, while lower scores on IQ, adaptive behavior, and communication measures were associated with more physical aggression. The interaction between demographic variables and diagnosis was significant only for age: younger but not older children with autism spectrum disorder showed less aggression than clinic-referred controls.

Published
2015
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12. Cognitive Set Shifting Deficits and Their Relationship to Repetitive Behaviors in Autism Spectrum Disorder

Author

Miller, Haylie L., Ragozzino, Michael E., and Cook, Edwin H.

Abstract

The neurocognitive impairments associated with restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD) are not yet clear. Prior studies indicate that individuals with ASD show reduced cognitive flexibility, which could reflect difficulty shifting from a previously learned response pattern or a failure to maintain a new response set. We examined different error types on a test of set-shifting completed by 60 individuals with ASD and 55 age- and nonverbal IQ-matched controls. Individuals with ASD were able to initially shift sets, but they exhibited difficulty maintaining new response sets. Difficulty with set maintenance was related to increased severity of RRBs. General difficulty maintaining new response sets and a heightened tendency to revert to old preferences may contribute to RRBs.

Published
2015
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13. Measuring Repetitive Behaviors as a Treatment Endpoint in Youth with Autism Spectrum Disorder

Author

Scahill, Lawrence, Aman, Michael G., Lecavalier, Luc, Halladay, Alycia K., Bishop, Somer L., Bodfish, James W., Grondhuis, Sabrina, Jones, Nancy, Horrigan, Joseph P., Cook, Edwin H., Handen, Benjamin L., King, Bryan H., Pearson, Deborah A., McCracken, James T., Sullivan, Katherine Anne, and Dawson, Geraldine

Abstract

Restricted interests and repetitive behaviors vary widely in type, frequency, and intensity among children and adolescents with autism spectrum disorder. They can be stigmatizing and interfere with more constructive activities. Accordingly, restricted interests and repetitive behaviors may be a target of intervention. Several standardized instruments have been developed to assess restricted interests and repetitive behaviors in the autism spectrum disorder population, but the rigor of psychometric assessment is variable. This article evaluated the readiness of available measures for use as outcome measures in clinical trials. The Autism Speaks Foundation assembled a panel of experts to examine available instruments used to measure restricted interests and repetitive behaviors in youth with autism spectrum disorder. The panel held monthly conference calls and two face-to-face meetings over 14 months to develop and apply evaluative criteria for available instruments. Twenty-four instruments were evaluated and five were considered "appropriate with conditions" for use as outcome measures in clinical trials. Ideally, primary outcome measures should be relevant to the clinical target, be reliable and valid, and cover the symptom domain without being burdensome to subjects. The goal of the report was to promote consensus across funding agencies, pharmaceutical companies, and clinical investigators about advantages and disadvantages of existing outcome measures.

Published
2015
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15. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

Author

McGrath, Lauren M., Yu, Dongmei, Marshall, Christian, Davis, Lea K., Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina, Gerber, Gloria, Wolf, Aaron, Schroeder, Frederick A., Osiecki, Lisa, O'Dushlaine, Colm, Kirby, Andrew, Illmann, Cornelia, Haddad, Stephen, Gallagher, Patience, Fagerness, Jesen A., Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Bienvenu, O. Joseph, Black, Donald W., Bloch, Michael H., Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Cath, Danielle C., Cavallini, Maria C., Chouinard, Sylvain, Coric, Vladimir, Cullen, Bernadette, Delorme, Richard, Denys, Damiaan, Derks, Eske M., Dion, Yves, Rosário, Maria C., Eapen, Valsama, Evans, Patrick, Falkai, Peter, Fernandez, Thomas V., Garrido, Helena, Geller, Daniel, Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Grünblatt, Edna, Heiman, Gary A., Hemmings, Sian M.J., Herrera, Luis D., Hounie, Ana G., Jankovic, Joseph, Kennedy, James L., King, Robert A., Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Lochner, Christine, Lowe, Thomas L., Lyon, Gholson J., Macciardi, Fabio, Maier, Wolfgang, McCracken, James T., McMahon, William, Murphy, Dennis L., Naarden, Allan L., Neale, Benjamin M., Nurmi, Erika, Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Reus, Victor I., Richter, Margaret A., Riddle, Mark, Robertson, Mary M., Rosenberg, David, Rouleau, Guy A., Ruhrmann, Stephan, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Tischfield, Jay A., Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R., Shugart, Yin Yao, Miguel, Euripedes C., Nicolini, Humberto, Oostra, Ben A., Moessner, Rainald, Wagner, Michael, Ruiz-Linares, Andres, Heutink, Peter, Nestadt, Gerald, Freimer, Nelson, Petryshen, Tracey, Posthuma, Danielle, Jenike, Michael A., Cox, Nancy J., Hanna, Gregory L., Brentani, Helena, Scherer, Stephen W., Arnold, Paul D., Stewart, S. Evelyn, Mathews, Carol A., Knowles, James A., Cook, Edwin H., Pauls, David L., Wang, Kai, and Scharf, Jeremiah M.

Published
2014
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18. Between a ROC and a Hard Place: Decision Making and Making Decisions about Using the SCQ

Author

Corsello, Christina, Hus, Vanessa, Pickles, Andrew, Risi, Susan, Cook, Edwin H., Leventhal, Bennett L., and Lord, Catherine

Abstract

Background: The Social Communication Questionnaire (SCQ), formerly the Autism Screening Questionnaire (ASQ), is based on a well-validated parent interview, the Autism Diagnostic Interview (ADI). It has shown promise as a screening measure for autism spectrum disorders (ASDs) in a research-referred older sample, though recent studies with younger children reported lower sensitivities when using the suggested cutoff of greater than or equal to 15 to differentiate ASDs from children with nonspectrum disorders (NS). Methods: Diagnostic discrimination of the SCQ was evaluated alone and in combination with the ADOS (Autism Diagnostic Observation Schedule) in a clinical and research-referred sample of 590 children and adolescents (2 to 16 years), with best estimate consensus diagnoses of autism, pervasive developmental disorder, not otherwise specified (PDD-NOS) and non-ASD disorders. The SCQ was completed before the evaluation in most cases. Performance of the SCQ was also compared with the Autism Diagnostic Interview--Revised (ADI-R). Results: Absolute scores and sensitivity in the younger children and specificity for all groups were lower than reported in the original study. Using receiver operating curves (ROC) to examine the area under the curve (AUC), the SCQ was more similar to the ADI-R total score in differentiating ASD from NS disorders in the older (8-10, greater than 11) than younger age groups (less than 5, 5-7). Lowering the cutoff score in the 2 younger groups improved sensitivity, with specificity remaining relatively low in all groups. Using the SCQ in combination with the ADOS resulted in improved specificity. Diagnostic discrimination was best using the ADI-R and ADOS in combination. Conclusions: Those interested in using the SCQ should consider adjusting cutoff scores according to age and purpose, and using it in combination with another measure. Sensitivity or specificity may be prioritized for research or screening depending on goals.

Published
2007
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19. Combining Information from Multiple Sources in the Diagnosis of Autism Spectrum Disorders

Author

Risi, Susan, Lord, Catherine, Gotham, Katherine, Corsello, Christina, Chrysler, Christina, Szatmari, Peter, Cook, Edwin H., Leventhal, Bennett L., and Pickles, Andrew

Abstract

Background: Standard case criteria are proposed for combined use of the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule to diagnose autism and to define the broader category of autism spectrum disorders. Method: Single and combined Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule algorithms were compared to best estimate diagnoses in four samples: U.S. (n = 960) and Canadian (n = 232) participants 3 years and older, U.S. participants younger than 36 months (n = 270), and U.S. participants older than 36 months with profound mental retardation (n = 67). Results: Sensitivities and specificities of 80% and higher were obtained when strict criteria for an autism diagnosis using both instruments were applied in the U.S. samples, and 75% or greater in the Canadian sample. Single-instrument criteria resulted in significant loss of specificity. Specificity was poor in the sample with profound mental retardation. Lower sensitivity and specificity were also obtained when proposed criteria for broader spectrum disorders were applied. Conclusions: The Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule make independent, additive contributions to the judgment of clinicians that result in a more consistent and rigorous application of diagnostic criteria. (Contains 3 tables.)

Published
2006

20. An Open-Label Trial of Escitalopram in Pervasive Developmental Disorders.

Author

Owley, Thomas, Walton, Laura, Salt, Jeff, Guter, Stephen J., Winnega, Marrea, Leventhal, Bennett L., and Cook, Edwin H.

Abstract

Objective: To assess the effect of escitalopram in the treatment of pervasive developmental disorders (PDDs). Method: This 10-week study had a forced titration, open-label design. Twenty-eight subjects (mean age 125.1 [+ or -] 33.5 months) with a PDD received escitalopram at a dose that increased weekly to a maximum dose of 20 mg as tolerated. The Aberrant Behavior Checklist-Community Version (ABC-CV) and the Clinical Global Impression scale (CGI) were used to assess outcome. Results: There was significant improvement in ABC-CV Irritability Subscale Scores (baseline mean 20.5 [+ or -] 5.9 to final mean 10.9 [+ or -] 7.2; p [less than or equal to] .001) and in the other ABC-CV Subscales. Improvement on Clinical Global Improvement Scale severity rating was also significant (baseline mean 5.2 [+ or -] 1.0 to final mean 4.6 [+ or -] 1.2; p [less than or equal to] .001). Twenty-five percent of the subjects responded at a dose less than 10 mg and did not tolerate the 10-mg dose, and an additional 36% responded at a dose greater than or equal to 10 mg. Final dose was unrelated to weight and only weakly correlated with age. Conclusions: This open-label study found escitalopram to be useful in treating some difficulties common in PDDs. A wide variability in dose was found that could not be accounted for by weight and only partially by age. The study provides information useful for the design of double-blind, placebo-controlled studies of escitalopram in PDDs. J. Am. Acad. Child Adolesc. Psychiatry, 2005;44(4):343-348. Key Words: autistic disorder, escitalopram, drug treatment, open label.

Published
2005

21. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Author

Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook,, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., and Beaudet, Arthur L.

Published
2012

24. Measuring anxiety as a treatment endpoint in youth with autism spectrum disorder

Author

Lecavalier, Luc, Wood, Jeffrey J., Halladay, Alycia K., Jones, Nancy E., Aman, Michael G., Cook, Edwin H., Handen, Benjamin L., King, Bryan H., Pearson, Deborah A., Hallett, Victoria, Sullivan, Katherine Anne, Grondhuis, Sabrina, Bishop, Somer L., Horrigan, Joseph P., Dawson, Geraldine, and Scahill, Lawrence

Subjects
Pervasive developmental disorders -- Care and treatment -- Research, Anxiety -- Diagnosis -- Research, Health
Abstract

Despite the high rate of anxiety in individuals with autism spectrum disorder (ASD), measuring anxiety in ASD is fraught with uncertainty. This is due, in part, to incomplete consensus on the manifestations of anxiety in this population. Autism Speaks assembled a panel of experts to conduct a systematic review of available measures for anxiety in youth with ASD. To complete the review, the panel held monthly conference calls and two face-to-face meetings over a fourteen-month period. Thirty eight published studies were reviewed and ten assessment measures were examined: four were deemed appropriate for use in clinical trials, although with conditions; three were judged to be potentially appropriate, while three were considered not useful for clinical trials assessing anxiety. Despite recent advances, additional relevant, reliable and valid outcome measures are needed to evaluate treatments for anxiety in ASD. Keywords Autism spectrum disorder * Anxiety * Instrument * Measure * Assessment * Treatment * Intervention, Introduction Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairments in social communication coupled with repetitive patterns of behaviors and interests (American Psychiatric Association 2013). ASD may affect [...]

Published
2014
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25. Brief Report: Pathophysiology of Autism: Neurochemistry.

Author

Cook, Edwin H.

Abstract

This paper reviews what is known about the role of neurochemicals in controlling the development of the brain and in the pathophysiology of autism. Suggested approaches to further research involve using animal models, examining effects of drugs on neurochemicals, and using such technologies as positron emission tomography and magnetic resonance spectroscopy. (DB)

Published
1996

26. Receptor Inhibition by Immunoglobulins: Specific Inhibition by Autistic Children, Their Relatives, and Control Subjects.

Author

Cook, Edwin H.

Abstract

Forty-two parents of children with autistic disorder, 15 children with autistic disorder, 17 siblings of children with autistic disorder, and 12 unrelated normal controls were studied for binding characteristics of their immunoglobulins. Results did not support the hypothesis that two specific autoantibodies are characteristic of autism. (Author/DB)

Published
1993

28. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Author

Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Lamb, Janine A., Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Lund, Sabata C., Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L., Sequeira, Ana F., Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wallace, Simon, Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Haines, Jonathan L., Hallmayer, Joachim, Monaco, Anthony P., Nurnberger, Jr., John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, and Ennis, Sean

Published
2012
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30. Synaptic, transcriptional and chromatin genes disrupted in autism

Author

De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Cicek, Ercument A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Hill, Sean R., Ionita-Laza, Iuliana, Gonzalez, Patricia Jimenez, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Maʼayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Willsey, Jeremy A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., and Buxbaum, Joseph D.

Published
2014
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33. Common genetic variants on 5p14.1 associate with autism spectrum disorders

Author

Wang, Kai, Zhang, Haitao, Ma, Deqiong, Bucan, Maja, Glessner, Joseph T., Abrahams, Brett S., Salyakina, Daria, Imielinski, Marcin, Bradfield, Jonathan P., Sleiman, Patrick M.A., Kim, Cecilia E., Hou, Cuiping, Frackelton, Edward, Chiavacci, Rosetta, Takahashi, Nagahide, Sakurai, Takeshi, Rappaport, Eric, Lajonchere, Clara M., Munson, Jeffrey, Estes, Annette, Korvatska, Olena, Piven, Joseph, Sonnenblick, Lisa I., Retuerto, Ana I. Alvarez, Herman, Edward I., Hutman, Ted, Sigman, Marian, Ozonoff, Sally, Klin, Ami, Owley, Thomas, Sweeney, John A., Brune, Camille W., Cantor, Rita M., Bernier, Raphael, Gilbert, John R., Cuccaro, Michael L., McMahon, William M., Miller, Judith, State, Matthew W., Wassink, Thomas H., Coon, Hilary, Levy, Susan E., Schult, Robert T., Nurnberger, John I. Jr., Haines, Jonathan L., Sutcliffe, James S., Cook, Edwin H., Minshew, Nancy J., Buxbaums, Joseph D., Dawson, Geraldine, Grant, Struan F.A., Geschwind, Daniel H., Pericak-Vance, Margaret A., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Pervasive developmental disorders -- Genetic aspects -- Risk factors, Genetic research -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Risk factors
Abstract

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 X [10.sup.-8], odds ratio =1.19). These signals were replicated in two independent cohorts, with combined Pvalues ranging from 7.4 X [10.sup.-8] to 2.1 X [10.sup.-10]. Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs., ASDs encompass a range of clinically defined conditions, including autism and pervasive developmental disorder not otherwise specified, which are more common and severe, as well as Asperger's syndrome, which appears [...]

Published
2009

34. Interactions between integrin [alpha]IIb[beta]3 and the serotonin transporter regulate serotonin transport and platelet aggregation in mice and humans

Author

Carneiro, Ana Marin D., Cook, Edwin H., Murphy, Dennis L., and Blakely, Randy D.

Subjects
Integrins -- Physiological aspects, Integrins -- Research, Serotonin -- Physiological aspects, Serotonin -- Research, Blood platelets -- Physiological aspects, Blood platelets -- Research
Abstract

The essential contribution of the antidepressant-sensitive serotonin (5-HT) transporter SERT (which is encoded by the SLC6A4 gene) to platelet 5-HT stores suggests an important role of this transporter in platelet function. Here, using SERT-deficient mice, we have established a role for constitutive SERT expression in efficient ADP-and thrombin-triggered platelet aggregation. Additionally, using pharmacological blockers of SERT and the vesicular monoamine transporter (VMAT), we have identified a role for ongoing 5-HT release and SERT activity in efficient human platelet aggregation. We have also demonstrated that fibrinogen, an activator of integrin [alpha]IIb[beta]3, enhances SERT activity in human platelets and that integrin [alpha]IIb[beta]3 interacts directly with the C terminus of SERT. Consistent with these findings, knockout mice lacking integrin [beta]3 displayed diminished platelet SERT activity. Conversely, HEK293 cells engineered to express human SERT and an activated form of integrin [beta]3 exhibited enhanced SERT function that coincided with elevated SERT surface expression. Our results support an unsuspected role of [alpha]IIb[beta]3/SERT associations as well as [alpha]IIb[beta]3 activation in control of SERT activity in vivo that may have broad implications for hyperserotonemia, cardiovascular disorders, and autism., Introduction Before gaining attention as a neurotransmitter, serotonin (5-hydroxytryptamine [5-HT]) was first detected in the blood and initially studied for its ability to trigger vasoconstriction (1). Although platelets store large [...]

Published
2008

35. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

Author

Arking, Dan E., Cutler, David J., Brune, Camille W., Teslovich, Tanya M., West, Kristen, Ikeda, Morna, Rea, Alexis, Guy, Moltu, Shin Lin, Cook, Edwin H., Jr., and Chakravarti, Aravinda

Subjects
Autism -- Genetic aspects, Autism -- Risk factors, Genetic disorders -- Research, Genetic variation -- Research, Biological sciences
Abstract

A two-stage genetic study is performed in which genomewide linkage and family-based association mapping is followed up by association and replication studies in an independent sample. It is concluded that a common variant in contactin-associated protein-like 2 (CNTNAP2) is associated with increased risk for autism in two independent family-based samples and exhibits a parent-of-origin bias.

Published
2008

37. Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder

Author

Dickel, Diane E., Veenstra-VanderWeele, Jeremy, Cox, Nancy J., Wu, Xiaolin, Fischer, Daniel J., Van Etten-Lee, Michelle, Himle, Joseph A., Leventhal, Bennett L., Cook, Edwin H., Jr., and Hanna, Gregory L.

Subjects
Association tests -- Research, Obsessive-compulsive disorder -- Genetic aspects, Obsessive-compulsive disorder -- Development and progression, Glutamate -- Research, Genetic polymorphisms -- Research, Health, Psychology and mental health
Published
2006

38. New complexities in the genetics of stuttering: significant sex-specific linkage signals

Author

Suresh, Rathi, Ambrose, Nicoline, Roe, Cheryl, Pluzhnikov, Anna, Wittke-Thompson, Jacqueline K., Ng, Maggie C.-Y., Wu, Xiaolin, Cook, Edwin H., Lundstrom, Cecilia, Garsten, Marie, Ezrati, Ruth, Yairi, Ehud, and Cox, Nancy J.

Subjects
Stuttering -- Genetic aspects, Sex-linkage (Genetics) -- Research, Segregation -- Analysis, Biological sciences
Published
2006

39. Sex-specific genetic architecture of whole blood serotonin levels

Author

Weiss, Lauren A., Abney, Mark, Cook, Edwin H., Jr., and Ober, Carole

Subjects
Sex chromosomes -- Analysis, Sex chromosomes -- Influence, Serotonin -- Genetic aspects, Genetic disorders -- Causes of, Genetic disorders -- Analysis, Biological sciences
Published
2005

42. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L., de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Andrew, Green, Jonathan, Guter, Stephen J., Heron, Elizabeth A., Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P., Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Magalhaes, Tiago R., Mantoulan, Carine, McDougle, Christopher J., Melhem, Nadine M., Merikangas, Alison, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J., Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Schlitt, Sabine, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J., Battaglia, Agatino, Cantor, Rita M., Coon, Hilary, Cuccaro, Michael L., Dawson, Geraldine, Ennis, Sean, Freitag, Christine M., Geschwind, Daniel H., Haines, Jonathan L., Klauck, Sabine M., McMahon, William M., Maestrini, Elena, Miller, Judith, Monaco, Anthony P., Nelson, Stanley F., Nurnberger, John I., Jr., Oliveira, Guiomar, Parr, Jeremy R., Pericak-Vance, Margaret A., Piven, Joseph, Schellenberg, Gerard D., Scherer, Stephen W., Vicente, Astrid M., Wassink, Thomas H., Wijsman, Ellen M., Betancur, Catalina, Buxbaum, Joseph D., Cook, Edwin H., Gallagher, Louise, Gill, Michael, Hallmayer, Joachim, Paterson, Andrew D., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Hakonarson, Hakon, and Devlin, Bernie

Published
2012
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43. Patterns and rates of exonic de novo mutations in autism spectrum disorders

Author

Neale, Benjamin M., Kou, Yan, Liu, Li, Maʼayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Jr, Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., and Daly, Mark J.

Published
2012
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44. Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism

Author

Wegiel, Jerzy, Schanen, N. Carolyn, Cook, Edwin H., Sigman, Marian, Brown, W. Ted, Kuchna, Izabela, Nowicki, Krzysztof, Wegiel, Jarek, Imaki, Humi, Ma, Shuang Yong, Marchi, Elaine, Wierzba-Bobrowicz, Teresa, Chauhan, Abha, Chauhan, Ved, Cohen, Ira L., London, Eric, Flory, Michael, Lach, Boleslaw, and Wisniewski, Thomas

Published
2012
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45. A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders

Author

Lord, Catherine, Petkova, Eva, Hus, Vanessa, Gan, Weijin, Lu, Feihan, Martin, Donna M., Ousley, Opal, Guy, Lisa, Bernier, Raphael, Gerdts, Jennifer, Algermissen, Molly, Whitaker, Agnes, Sutcliffe, James S., Warren, Zachary, Klin, Ami, Saulnier, Celine, Hanson, Ellen, Hundley, Rachel, Piggot, Judith, Fombonne, Eric, Steiman, Mandy, Miles, Judith, Kanne, Stephen M., Goin-Kochel, Robin P., Peters, Sarika U., Cook, Edwin H., Guter, Stephen, Tjernagel, Jennifer, Green-Snyder, Lee Anne, Bishop, Somer, Esler, Amy, Gotham, Katherine, Luyster, Rhiannon, Miller, Fiona, Olson, Jennifer, Richler, Jennifer, and Risi, Susan

Published
2012
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46. Multisite, double-blind, placebo-controlled trial of porcine secretin in autism

Author

Owley, Thomas, McMahon, William, Cook, Edwin H., Laulhere, Tracy, South, Mikle, Mays, Lee Zellmer, Shernoff, Elisa S., Lainhart, Janet, Modahl, Charlotte B., Corsello, Christina, Ozonoff, Sally, Risi, Susan, Lord, Catherine, Leventhal, Bennett L., and Filipek, Pauline A.

Subjects
Adolescent psychiatry -- Research, Autism -- Drug therapy, Porcine somatotropin -- Health aspects, Psychopharmacology -- Research, Family and marriage, Psychology and mental health
Published
2001

47. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

Author

Celestino-Soper, Patricia B.S., Shaw, Chad A., Sanders, Stephan J., Li, Jian, Murtha, Michael T., Ercan-Sencicek, A. Gulhan, Davis, Lea, Thomson, Susanne, Gambin, Tomasz, Chinault, A. Craig, Ou, Zhishuo, German, Jennifer R., Milosavljevic, Aleksandar, Sutcliffe, James S., Cook, Edwin H., Jr., Stankiewicz, Pawel, State, Matthew W., and Beaudet, Arthur L.

Published
2011
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49. The Autism Diagnostic Observation Schedule--Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism

Author

Lord, Catherine, Risi, Susan, Lambrecht, Linda, Cook, Edwin H., Leventhal, Bennett L., DiLavore, Pamela C., Pickles, Andrew, and Rutter, Michael

Subjects
Autism -- Psychological aspects, Language skills -- Research, Social skills in children -- Research, Health
Abstract

Byline: Catherine Lord (1), Susan Risi (1), Linda Lambrecht (1), Edwin H. Cook (1), Bennett L. Leventhal (1), Pamela C. DiLavore (2), Andrew Pickles (3), Michael Rutter (4) Keywords: Autism Diagnostic Observation Schedule; PDDNOS; non-autistic-spectrum diagnoses; expressive language skill Abstract: The Autism Diagnostic Observation Schedule--Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test--retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS. Author Affiliation: (1) University of Chicago, Chicago, Illinois (2) University of North Carolina, Chapel Hill, North Carolina (3) University of Manchester, England (4) Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, London, England Article History: Registration Date: 09/10/2004

Published
2000

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