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3. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Author

Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, Warren, Stephen T, Owen, Michael J, Chopra, Pankaj, Cutler, David J, Duncan, Richard, Kotlar, Alex V, Mulle, Jennifer G, Voss, Anna J, Zwick, Michael E, Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T Blaine, McGinn, Daniel E, Moss, Edward M, Sharkus, Robert J, Unolt, Marta, Zackai, Elaine H, Calkins, Monica E, Gallagher, Robert S, Gur, Ruben C, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M, Breetvelt, Elemi, Duijff, Sasja N, Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C, Prasad, Sarah E, Daly, Eileen M, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, and Schneider, Maude

Subjects
International 22q11.2DS Brain and Behavior Consortium, Prevention, Serious Mental Illness, Genetics, Human Genome, Schizophrenia, Neurosciences, Mental Health, Clinical Research, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Mental health, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10-6). Novel reciprocal case-control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.

Published
2021

4. Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.

Author

Weisman, Omri, Guri, Yael, Gur, Raquel E, McDonald-McGinn, Donna M, Calkins, Monica E, Tang, Sunny X, Emanuel, Beverly, Zackai, Elaine H, Eliez, Stephan, Schneider, Maude, Schaer, Marie, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, Shashi, Vandana, Hooper, Stephen R, Armando, Marco, Vicari, Stefano, Pontillo, Maria, Kushan, Leila, Jalbrzikowski, Maria, Bearden, Carrie E, Cubells, Joseph F, Ousley, Opal Y, Walker, Elaine F, Simon, Tony J, Stoddard, Joel, Niendam, Tara A, van den Bree, Marianne BM, and Gothelf, Doron

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Behavioral and Social Science, Mental Health, Serious Mental Illness, Brain Disorders, Neurosciences, Clinical Research, Pediatric, Clinical Trials and Supportive Activities, Mental health, Adolescent, Adult, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Child, Cognitive Dysfunction, Comorbidity, DiGeorge Syndrome, Humans, Middle Aged, Prodromal Symptoms, Psychotic Disorders, Young Adult, velocardiofacial syndrome, subthreshold psychotic symptoms, structured interview for prodromal syndromes, anxiety disorder, global assessment of functioning, attention deficit, hyperactivity disorder, IQ, DiGeorge syndrome, International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, attention deficit/hyperactivity disorder, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences
Abstract

Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown psychotic episode is usually preceded by subthreshold symptoms. In the current study, 760 participants (aged 6-55 years) with a confirmed hemizygous 22q11.2 microdeletion have been recruited through 10 medical sites worldwide, as part of an international research consortium. Of them, 692 were nonpsychotic and with complete measurement data. Subthreshold psychotic symptoms were assessed using the Structured Interview for Prodromal Syndromes (SIPS). Nearly one-third of participants met criteria for positive subthreshold psychotic symptoms (32.8%), less than 1% qualified for acute positive subthreshold symptoms, and almost a quarter met criteria for negative/disorganized subthreshold symptoms (21.7%). Adolescents and young adults (13-25 years) showed the highest rates of subthreshold psychotic symptoms. Additionally, higher rates of anxiety disorders and attention deficit/hyperactivity disorder (ADHD) were found among the study participants with subthreshold psychotic symptoms compared to those without. Full-scale IQ, verbal IQ, and global functioning (GAF) scores were negatively associated with participants' subthreshold psychotic symptoms. This study represents the most comprehensive analysis reported to date on subthreshold psychosis in 22q11.2DS. Novel findings include age-related changes in subthreshold psychotic symptoms and evidence that cognitive deficits are associated with subthreshold psychosis in this population. Future studies should longitudinally follow these symptoms to detect whether and how early identification and treatment of these manifestations can improve long-term outcomes in those that eventually develop a psychotic disorder.

Published
2017

5. Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

Author

Vorstman, Jacob AS, Breetvelt, Elemi J, Duijff, Sasja N, Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R, Chow, Eva WC, Fung, Wai Lun Alan, Butcher, Nancy J, Young, Donald A, McDonald-McGinn, Donna M, Vogels, Annick, van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra WJ, Koops, Sanne, Kates, Wendy R, Antshel, Kevin M, Simon, Tony J, Ousley, Opal Y, Swillen, Ann, Gur, Raquel E, Bearden, Carrie E, Kahn, René S, and Bassett, Anne S

Subjects
Mental Health, Prevention, Brain Disorders, Schizophrenia, Serious Mental Illness, Pediatric, Clinical Research, Mental health, Adolescent, Age Factors, Child, Chromosomes, Human, Pair 22, Cognition Disorders, DiGeorge Syndrome, Female, Humans, Intelligence Tests, Male, Neuropsychological Tests, Prospective Studies, Psychotic Disorders, Risk Factors, Young Adult, International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Other Medical and Health Sciences, Psychology, Cognitive Sciences
Abstract

ImportancePatients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.ObjectiveTo determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS.Design, setting, and participantsProspective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with ≥1 assessment at age 8-24 years).Main outcomes and measuresDiagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test.ResultsAmong 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P

Published
2015

6. Brief Report: Relationship Between ADOS-2, Module 4 Calibrated Severity Scores (CSS) and Social and Non-Social Standardized Assessment Measures in Adult Males with Autism Spectrum Disorder (ASD)

Author

Morrier, Michael J., Ousley, Opal Y., Caceres-Gamundi, Gabriella A., Segall, Matthew J., Cubells, Joseph F., Young, Larry J., and Andari, Elissar

Abstract

The ADOS-2 Modules 1-3 now include a standardized calibrated severity score (CSS) from 1 to 10 based on the overall total raw score. Subsequent research published CSS for Module 4 (Hus, Lord, "Journal of Autism and Developmental Disorders" 44(8):1996-2012, 2014); however more research is needed to examine the psychometric properties of this CSS. Forty males with ASD completed an assessment battery consisting of ADOS-2 Module 4 and other clinical measures assessing core ASD symptomology and comorbidity. Pearson correlation analyses found that CSS did not correlate with measures that assessed core social deficits of ASD or general psychiatric co-morbidity, but CSS did correlate negatively with intellectual quotient. These findings provide information on the limitations and relevance of CSS to be taken into account in future clinical evaluations of ASD.

Published
2017
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7. Brief Report: Relationship Between ADOS-2, Module 4 Calibrated Severity Scores (CSS) and Social and Non-Social Standardized Assessment Measures in Adult Males with Autism Spectrum Disorder (ASD)

Author

Morrier, Michael J., Ousley, Opal Y., Caceres-Gamundi, Gabriella A., Segall, Matthew J., Cubells, Joseph F., Young, Larry J., and Andari, Elissar

Subjects
Interpersonal relations -- Analysis, Pervasive developmental disorders -- Diagnosis -- Care and treatment, Anxiety -- Analysis, Health
Abstract

The ADOS-2 Modules 1-3 now include a standardized calibrated severity score (CSS) from 1 to 10 based on the overall total raw score. Subsequent research published CSS for Module 4 (Hus, Lord, Journal of Autism and Developmental Disorders 44(8):1996-2012, 2014 (See CR13)); however more research is needed to examine the psychometric properties of this CSS. Forty males with ASD completed an assessment battery consisting of ADOS-2 Module 4 and other clinical measures assessing core ASD symptomology and comorbidity. Pearson correlation analyses found that CSS did not correlate with measures that assessed core social deficits of ASD or general psychiatric co-morbidity, but CSS did correlate negatively with intellectual quotient. These findings provide information on the limitations and relevance of CSS to be taken into account in future clinical evaluations of ASD., Author(s): Michael J. Morrier [sup.1] [sup.2] , Opal Y. Ousley [sup.1] [sup.2] , Gabriella A. Caceres-Gamundi [sup.2] , Matthew J. Segall [sup.1] [sup.2] , Joseph F. Cubells [sup.1] [sup.2] [sup.4] [...]

Published
2017
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9. Autism

Author

Stone, Wendy L., primary and Ousley, Opal Y., additional

Published
2017
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11. Brief Report: Screening Tool for Autism in Two-Year-Olds (STAT): Development and Preliminary Data.

Author

Stone, Wendy L., Coonrod, Elaine E., and Ousley, Opal Y.

Abstract

A study examined the validity of the Screening Tool for Autism in Two-Year-Olds (STAT) as a stage 2 screening instrument in a clinic-based sample of two-year-olds with autism (n=12) and with nonautistic developmental disorders (n=21). Results provide preliminary support for the utility of the STAT as an early screening of autism. (Contains references.) (Author/CR)

Published
2000

12. Patterns of Adaptive Behavior in Very Young Children with Autism.

Author

Stone, Wendy L., Ousley, Opal Y., Hepburn, Susan L., Hogan, Kerry L., and Brown, Christia S.

Abstract

A study used the Vineland Adaptive Behavior Scales to investigate patterns of adaptive behavior in 30 children with autism who were under 3 years. Relative to controls, participants demonstrated weaker socialization and communication skills and greater discrepancies between adaptive behavior and mental age. The utility of the scales is discussed. (Author/CR)

Published
1999

13. Nonverbal Communication in Two- and Three-Year-Old Children with Autism.

Author

Stone, Wendy L., Ousley, Opal Y., and Yoder, Paul J.

Abstract

The forms, functions, and complexity of nonverbal communication used by 14 young (ages 2-3) children with autism were investigated. Comparison with children with developmental delays and/or language impairments on a structured assessment found that autistic children directly manipulated the examiner's hand and requested more often but were less likely to comment, point, show objects, or use eye gaze to communicate. (Author/DB)

Published
1997

15. Sexual Attitudes and Knowledge of High-Functioning Adolescents and Adults with Autism.

Author

Ousley, Opal Y. and Mesibov, Gary B.

Abstract

Interviews with 21 high-functioning adults with autism and 20 mildly to moderately mentally retarded adults without autism indicated that the mentally retarded group had more sexual experiences, with no intergroup differences in sexual knowledge or interest. Intelligence quotient was positively correlated with knowledge scores and males had greater interest in sexuality than females. (Author/JDD)

Published
1991

18. Development of an interactive tool of early social responsiveness to track autism risk in infants and toddlers.

Author

Factor, Reina S, Arriaga, Rosa I, Morrier, Michael J, Mathys, Jennifer B, Dirienzo, Monica, Miller, Chanel A, Southerland, Audrey M, Abowd, Gregory D, and Ousley, Opal Y

Subjects
INFANTS, TODDLERS, AUTISM spectrum disorders, EYE contact, AUTISM
Abstract

Aim: To evaluate the psychometric properties of a 4‐minute assessment designed to identify early autism spectrum disorder (ASD) status through evaluation of early social responsiveness (ESR). Method: This retrospective, preliminary study included children between 13 and 24 months (78 males, 79 females mean age 19.4mo, SD 3.1) from two independent data sets (an experimental/training sample [n=120] and a validation/test sample [n=37]). The ESR assessment examined social behaviors (e.g. eye contact, smiling, ease‐of‐social‐engagement) across five common play activities (e.g. rolling a ball, looking at a book). Data analyses examined reliability and accuracy of the assessment in identifying ESR abilities and in discriminating children with and without ASD. Results: Results indicated adequate internal consistency and test–retest reliability of the ESR assessment. Receiver operator curve analysis identified a cutoff score that discriminated infants with ASD‐risk from peers in the training sample. This score yielded moderate sensitivity and high specificity for best‐estimate ASD diagnosis in the validation sample. Interpretation: Preliminary findings indicated that brief, systematic observation of ESR may assist in discriminating infants with and without ASD, providing concrete evidence to validate or supplement parents', pediatricians', or clinicians' concerns. Future studies could examine the utility of ESR 'growth curves'. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Beliefs in vaccine as causes of autism among SPARK cohort caregivers

Author

Fombonne, Eric, primary, Goin-Kochel, Robin P., additional, O'Roak, Brian J., additional, Abbeduto, Leonard, additional, Aberbach, Gabriella, additional, Acampado, John, additional, Ace, Andrea J., additional, Albright, Charles, additional, Alessandri, Michael, additional, Amaral, David G., additional, Amatya, Alpha, additional, Anglo, Claudine, additional, Annett, Robert D., additional, Arriaga, Ivette, additional, Ashley, Raven, additional, Astrovskaya, Irina, additional, Baalman, Kelly, additional, Baer, Melissa, additional, Bahl, Ethan, additional, Balasubramanian, Adithya, additional, Baraghoshi, Gabrielle, additional, Bardett, Nicole, additional, Barnard, Rebecca A., additional, Bashar, Asif, additional, Beaudet, Arthur, additional, Beckwith, Malia, additional, Beeson, Landon, additional, Bentley, Dawn, additional, Bernier, Raphael A., additional, Berry-Kravis, Elizabeth, additional, Boland, Sarah, additional, Booker, Stephanie, additional, Bradley, Catherine, additional, Brewster, Stephanie J., additional, Brooks, Elizabeth, additional, Brown, Melissa, additional, Brueggeman, Leo, additional, Butler, Martin E., additional, Butter, Eric M., additional, Callahan, Kristen, additional, Camba, Alexies, additional, Carbone, Paul, additional, Carpenter, Laura, additional, Carpenter, Sarah, additional, Carriero, Nicholas, additional, Cartner, Lindsey A., additional, Casten, Lucas, additional, Chatha, Ahmad S., additional, Chin, Wubin, additional, Chintalapalli, Sharmista, additional, Cho, Daniel, additional, Chung, Wendy K., additional, Clark, Renee D., additional, Cohen, Cheryl, additional, Coleman, Kendra, additional, Columbi, Costanza, additional, Coppola, Leigh, additional, Courchesne, Eric, additional, Cubells, Joseph F., additional, Hannah Currin, Mary, additional, Daniels, Amy M., additional, David, Giancarla, additional, DeMarco, Lindsey, additional, Dennis, Megan Y., additional, Dent, Kate, additional, Dichter, Gabriel S., additional, Ding, Yan, additional, Dinh, Huyen, additional, Doan, Ryan, additional, Doddapaneni, HarshaVardhan, additional, Eichler, Evan E., additional, Eldred, Sara, additional, Eng, Christine, additional, Erickson, Craig A., additional, Esler, Amy, additional, Fatemi, Ali, additional, Feliciano, Pamela, additional, Fischer, Gregory, additional, Fish, Angela, additional, Fisk, Ian, additional, Fombonne, Eric J., additional, Foster, Margaret, additional, Fox, Emily A., additional, Francis, Sunday, additional, Friedman, Sandra L., additional, Ganesan, Swami, additional, Garrett, Michael, additional, Gazestani, Vahid, additional, Geisheker, Madeleine R., additional, Gerdts, Jennifer A., additional, Geschwind, Daniel H., additional, Ghaziuddin, Mohammad, additional, Gibbs, Richard A., additional, Gonzalez, Natalia, additional, Goudreau, Lindsey, additional, Griswold, Anthony J., additional, Grosvenor, Luke P., additional, Gruber, Angela J., additional, Gulsrud, Amanda C., additional, Gunderson, Jaclyn, additional, Gunter, Chris, additional, Gupta, Abha, additional, Gutierrez, Anibal, additional, Hale, Melissa N., additional, Haley, Monica, additional, Hall, Jacob B., additional, Hamer, Kira E., additional, Han, Bing, additional, Hanna, Nathan, additional, Hardan, Antonio, additional, Harkins, Christina, additional, Harrington, Gloria, additional, Harris, Jill, additional, Harris, Nina, additional, Hauf, Brenda, additional, Hayes, Caitlin, additional, Heerwagen, Kathryn, additional, Hepburn, Susan L., additional, Herbert, Lynette M., additional, Heyman, Michelle, additional, Higgins, Lorrin, additional, Hilscher, Brittani A., additional, Hofammann, Eugenia, additional, Hojlo, Margaret, additional, Horner, Susannah, additional, Hsieh, Alexander, additional, Hu, Jianhong, additional, Huang-Storms, Lark Y., additional, Hunter, Samantha, additional, Hutter, Hanna, additional, Istephanous, Dalia, additional, Jacob, Suma, additional, Jaramillo, Nancy, additional, Jelinek, Anna, additional, Jensen, William, additional, Jones, Mark, additional, Jordy, Michelle, additional, Jorgenson, Alissa, additional, Jou, Roger, additional, Pablo Juarez, A., additional, Judge, Jessyca, additional, Jurayj, Jane, additional, Kalmus, Taylor, additional, Kanne, Stephen, additional, Kaplan, Hannah E., additional, Kasparson, Lauren, additional, Kent, Matt, additional, Hyun Kim, So, additional, Kitaygorodsky, Alex, additional, Koene, Hope, additional, Koomar, Tanner, additional, Korchina, Viktoriya, additional, Krentz, Anthony D., additional, Lam Schneider, Hoa, additional, Lamarche, Elena, additional, Lampert, Erica, additional, Landa, Rebecca J., additional, Lash, Alex E., additional, Kiely Law, J., additional, Lawson, Noah, additional, Layman, Kevin, additional, Lechniak, Holly, additional, Lee, Sandra, additional, Lee, Soo J., additional, Lee Coury, Daniel, additional, Lese Martin, Christa, additional, Lesher, Laurie, additional, Li, Hai, additional, Li, Deana, additional, Lillie, Natasha, additional, Liu, Xiuping, additional, Lopez, Marilyn, additional, Lord, Catherine, additional, Lowe, Kathryn, additional, Mallardi, Malcolm D., additional, Manning, Patricia, additional, Manoharan, Julie, additional, Marini, Richard, additional, Martin, Christa, additional, Marzano, Gabriela, additional, Mason, Andrew, additional, Mastel, Sarah, additional, Matthews, Emily T., additional, McCracken, James T., additional, McKenzie, Alexander P., additional, Miceli, Alexandra, additional, Michaelson, Jacob J., additional, Milliken, Anna, additional, Mohiuddin, Sarah, additional, Momin, Zeineen, additional, Morrier, Michael J., additional, Mostofsky, Stewart, additional, Murali, Shwetha, additional, Muzny, Donna, additional, Myers, Vincent J., additional, Neely, Jason, additional, Nessner, Caitlin, additional, Nicholson, Amy, additional, Niederhouser, Melanie, additional, O'Brien, Kaela, additional, O'Connor, Eirene, additional, O'Neil, Molly, additional, Ochoa-Lubinoff, Cesar, additional, Orobio, Jessica, additional, Orrick, Libby, additional, Ortiz, Crissy, additional, Ousley, Opal Y., additional, Pacheco, Lillian D., additional, Palmer, Samiza, additional, Pandey, Juhi, additional, Marie Paolicelli, Anna, additional, Pawlowski, Katherine G., additional, Pierce, Karen L., additional, Piven, Joseph, additional, Plate, Samantha, additional, Polanco, Jose, additional, Popp, Marc, additional, Pottschmidt, Natalie, additional, Pramparo, Tiziano, additional, Prock, Lisa M., additional, Qi, Hongjian, additional, Qiu, Shanping, additional, Rachubinski, Angela L., additional, Rajbhandari, Kshitij, additional, Rana, Rishiraj, additional, Ranganathan, Vai, additional, Raymond, Laurie, additional, Remington, Rick, additional, Rice, Catherine E., additional, Rigby, Chris, additional, Robertson, Beverly E., additional, Rodriguez, Nicki, additional, Rodriguez, Barbara, additional, Roeder, Katherine, additional, Rosenberg, Cordelia R., additional, Russo-Ponsaran, Nicole, additional, Ruzzo, Elizabeth, additional, Sabo, Aniko, additional, Sahin, Mustafa, additional, Salomatov, Andrei, additional, Sandhu, Sophia, additional, Santangelo, Susan, additional, Sarver, Dustin E., additional, Scherr, Jessica, additional, Schultz, Robert T., additional, Schweers, Kathryn A., additional, Shaffer, Rebecca, additional, Shah, Swapnil, additional, Shaikh, Tamim, additional, Shen, Yufeng, additional, Shocklee, Amanda D., additional, Shulman, Lisa, additional, Siegel, Matthew, additional, Simon, Andrea R., additional, Simon, Laura, additional, Singh, Vini, additional, Skinner, Steve, additional, Smith, Christopher J., additional, Smith, Kaitlin, additional, Snyder, LeeAnne G., additional, Soorya, Latha V., additional, Soucy, Aubrie, additional, Stamps, Danielle, additional, Steele, Morgan, additional, Stephens, Alexandra N., additional, Stock, Colleen M., additional, Sullivan, Catherine, additional, Sutcliffe, James S., additional, Swanson, Amy, additional, Tafolla, Maira, additional, Takahashi, Nicole, additional, Taylor, Cora, additional, Thomas, Carrie, additional, Thomas, Taylor, additional, Thompson, Samantha, additional, Tjernagel, Jennifer, additional, Turner, Tychele N., additional, Valicenti-McDermott, Maria, additional, Van Metre, Bonnie, additional, Van Wade, Candace, additional, Veenstra-Vanderweele, Jeremy, additional, Verdi, Mary, additional, Vernoia, Brianna M., additional, Volfovsky, Natalia, additional, Wallace, Jermel, additional, Walston, Corrie H., additional, Wang, Jiayao, additional, Wang, Tianyun, additional, Warren, Zachary, additional, Wasserburg, Lucy, additional, White, Sabrina, additional, Casey White-Lehman, L., additional, Wodka, Ericka L., additional, Xu, Simon, additional, Yang, Wha S., additional, Yinger, Meredith, additional, Youngkin, Sarah, additional, Yu, Timothy, additional, Zang, Lan, additional, Zaydens, Hana, additional, Zhang, Haicang, additional, Zhao, Haoquan, additional, Zhou, Xueya, additional, and Zick, Allyson, additional

Published
2020
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25. Early recognition of autism: parental reports vs clinical observation

Author

Stone, Wendy L., Hoffman, Edward L., Lewis, Susan E., and Ousley, Opal Y.

Subjects
Autism -- Diagnosis, Behavior disorders in children -- Causes of, Health
Abstract

Objective: To determine which behavioral characteristics of autism are apparent in early childhood and to examine the relative contributions of clinical observation and parental reports to early identification of autism. Design: Blinded comparison of behavioral data obtained through parental reports and clinical observation. Setting: Child development referral center. Patients: Twenty-six children (23 boys and three girls) younger than age 48 months with a clinical diagnosis of autism. Selection Procedures: Consecutive sample. Interventions: None. Measurements and Results: Social interaction, communication, and activities and interests were evaluated using standard diagnostic criteria for autism. Results suggested that deficits in the areas of social interaction, imitation, play, and non-verbal communication are more prominent than insistence on sameness and routines in young children with autism. Also, parental reports and clinical observation appear to detect different aspects of abnormal behavior patterns in this sample. Conclusions: Improved awareness of the early signs of autism should help physicians recognize this disorder in a timely manner. Further research may identify how observation of play and parental reports might be incorporated efficiently into a physician's repertoire of developmental and behavioral screening tools., Behavioral characteristics commonly exhibited by young autistic children may include a lack of awareness of others, impaired imitation, abnormal social play, abnormal nonverbal communication, and absence of imaginative play. Researchers studied 26 children under age 4 who were diagnosed with autism. Behavioral data were collected through clinical observations of the children and parental reports. Clinical observations revealed that 96% of children displayed abnormal social play. Lack of awareness of others and impaired imitation were additional social deficits. Communication deficits included a lack of communication and little imaginative play. Abnormal nonverbal communication was apparent in 92% of children. Parental reports identified impaired imitation and abnormal social play in over 75% of children. Abnormal non-verbal communication was reported in 73% of children while a lack of imaginative play was identified in 80.8%.

Published
1994

26. School-age social behavior and pragmatic language ability in children with prenatal serotonin reuptake inhibitor exposure.

Author

Smearman, Erica L., Hendrix, Cassandra L., Winiarski, Dominika A., Johnson, Katrina C., Smith, Alicia K., Ousley, Opal Y., Stowe, Zachary N., Newport, D. Jeffrey, and Brennan, Patricia A.

Subjects
PRENATAL depression, SEROTONIN uptake inhibitors, LANGUAGE ability, CHILDREN with autism spectrum disorders, VERBAL behavior, CHILDREN'S language
Abstract

Studies examining associations between fetal serotonin reuptake inhibitor (SRI) exposure and child autism spectrum disorder (ASD) diagnoses or delayed language remain mixed and rarely prospectively follow children or employ gold-standard assessments. We prospectively followed a cohort of mother–child dyads from pregnancy through early elementary school (N = 178), and obtained maternal and alternate–caregiver ratings of behaviors related to ASD (N = 137), as well as direct, gold-standard assessments of child ASD symptoms and pragmatic language among dyads who experienced prenatal depression and either took SRIs or were medication free during pregnancy (N = 44). Prenatal SRI exposure was related to maternal ratings of ASD-related behaviors (β = 0.24 95% confidence interval; CI [0.07, 0.48]), and, among boys, alternative caregiver ratings (males-only β = 0.28 95% CI [0.02, 0.55], females-only β = −0.21 95% CI [–0.63, 0.08]). However, results of our direct assessments suggest an association between SRI exposure and reduced pragmatic language scores (β = –0.27, 95% CI [–0.53, –0.01], but not ASD (Autism Diagnostic Observation Schedule β = 0.14 95% CI [–0.15, 0.41]; Social Responsiveness Scale β = 0.08 95% CI [–0.25, 0.40]). These discrepancies point to issues regarding how ASD is assessed, and the possibility that SRIs may be more strongly associated with language or other broader behaviors that coincide with ASD. Larger prospective studies that incorporate thorough, gold-standard assessments of ASD, language, and other ASD-related behaviors are needed. [ABSTRACT FROM AUTHOR]

Published
2020
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27. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Author

Feliciano, Pamela, primary, Daniels, Amy M., additional, Green Snyder, LeeAnne, additional, Beaumont, Amy, additional, Camba, Alexies, additional, Esler, Amy, additional, Gulsrud, Amanda G., additional, Mason, Andrew, additional, Gutierrez, Anibal, additional, Nicholson, Amy, additional, Paolicelli, Anna Marie, additional, McKenzie, Alexander P., additional, Rachubinski, Angela L., additional, Stephens, Alexandra N., additional, Simon, Andrea R., additional, Stedman, Amy, additional, Shocklee, Amanda D., additional, Swanson, Amy, additional, Finucane, Brenda, additional, Hilscher, Brittani A., additional, Hauf, Brenda, additional, O’Roak, Brian J., additional, McKenna, Brooke, additional, Robertson, Beverly E., additional, Rodriguez, Barbara, additional, Vernoia, Brianna M., additional, Van Metre, Bonnie, additional, Bradley, Catherine, additional, Cohen, Cheryl, additional, Erickson, Craig A., additional, Harkins, Christina, additional, Hayes, Caitlin, additional, Lord, Catherine, additional, Martin, Christa Lese, additional, Ortiz, Crissy, additional, Ochoa-Lubinoff, Cesar, additional, Peura, Christine, additional, Rice, Catherine E., additional, Rosenberg, Cordelia R., additional, Smith, Christopher J., additional, Thomas, Carrie, additional, Taylor, Cora M., additional, White, Loran Casey, additional, Walston, Corrie H., additional, Amaral, David G., additional, Coury, Daniel Lee, additional, Sarver, Dustin E., additional, Istephanous, Dalia, additional, Li, Deana, additional, Nugyen, Dzung Cong, additional, Fox, Emily A., additional, Butter, Eric M., additional, Berry-Kravis, Elizabeth, additional, Courchesne, Eric, additional, Fombonne, Eric J., additional, Hofammann, Eugenia, additional, Lamarche, Elena, additional, Wodka, Ericka L., additional, Matthews, Emily T., additional, O’Connor, Eirene, additional, Palen, Emily, additional, Miller, Fiona, additional, Dichter, Gabriel S., additional, Marzano, Gabriela, additional, Stein, Gail, additional, Hutter, Hanna, additional, Kaplan, Hannah E., additional, Li, Hai, additional, Lechniak, Holly, additional, Schneider, Hoa Lam, additional, Zaydens, Hana, additional, Arriaga, Ivette, additional, Gerdts, Jennifer A., additional, Cubells, Joseph F., additional, Cordova, Jeanette M., additional, Gunderson, Jaclyn, additional, Lillard, Joseph, additional, Manoharan, Julie, additional, McCracken, James T., additional, Michaelson, Jacob J., additional, Neely, Jason, additional, Orobio, Jessica, additional, Pandey, Juhi, additional, Piven, Joseph, additional, Scherr, Jessica, additional, Sutcliffe, James S., additional, Tjernagel, Jennifer, additional, Wallace, Jermel, additional, Callahan, Kristen, additional, Dent, Katherine, additional, Schweers, Kathryn A., additional, Hamer, Kira E., additional, Law, J. Kiely, additional, Lowe, Kathryn, additional, O’Brien, Kaela, additional, Smith, Kaitlin, additional, Pawlowski, Katherine G., additional, Pierce, Karen L., additional, Roeder, Katherine, additional, Abbeduto, Leonard J., additional, Berry, Leandra N., additional, Cartner, Lindsey A., additional, Coppola, Leigh A., additional, Carpenter, Laura, additional, Cordeiro, Lisa, additional, DeMarco, Lindsey, additional, Grosvenor, Luke P., additional, Higgins, Lorrin, additional, Huang-Storms, Lark Y., additional, Hosmer-Quint, Landon, additional, Herbert, Lynette M., additional, Kasparson, Lauren, additional, Prock, Lisa M., additional, Pacheco, Lillian D., additional, Raymond, Laurie, additional, Simon, Laura, additional, Soorya, Latha V., additional, Wasserburg, Lucy, additional, Lazar, Maya, additional, Alessandri, Michael, additional, Brown, Melissa, additional, Currin, Mary Hannah, additional, Gwynette, McLeod F., additional, Heyman, Michelle, additional, Hale, Melissa N., additional, Jones, Mark, additional, Jordy, Michelle, additional, Morrier, Michael J., additional, Sahin, Mustafa, additional, Siegel, Matthew S., additional, Verdi, Mary, additional, Parlade, Meaghan Venezia, additional, Yinger, Meredith, additional, Bardett, Nicole, additional, Hanna, Nathan, additional, Harris, Nina, additional, Pottschmidt, Natalie, additional, Russo-Ponsaran, Nicole, additional, Takahashi, Nicole, additional, Ousley, Opal Y., additional, Juarez, A. Pablo, additional, Manning, Patricia, additional, Annett, Robert D., additional, Bernier, Raphael A., additional, Clark, Renee D., additional, Landa, Rebecca J., additional, Goin-Kochel, Robin P., additional, Remington, Rick, additional, Schultz, Robert T., additional, Brewster, Stephanie J., additional, Booker, Stephanie, additional, Carpenter, Sarah, additional, Eldred, Sara, additional, Francis, Sunday, additional, Friedman, Sandra L., additional, Horner, Susannah, additional, Hepburn, Susan, additional, Jacob, Suma, additional, Kanne, Stephen, additional, Lee, Soo J., additional, Mastel, Sarah A., additional, Plate, Samantha, additional, Qiu, Shanping, additional, Sandhu, Sophia, additional, Thompson, Samantha, additional, White, Sabrina, additional, Myers, Vincent J., additional, Singh, Vini, additional, Yang, Wha S., additional, Warren, Zachary, additional, Amatya, Alpha, additional, Ace, Andrea J., additional, Chatha, Ahmad S., additional, Lash, Alex E., additional, Negron, Ben, additional, Rigby, Chris, additional, Ridenour, Curtis, additional, Stock, Colleen M., additional, Schmidt, Danielle, additional, Fisk, Ian, additional, Acampado, John, additional, Nestle, Jay L., additional, Nestle, Jay A., additional, Layman, Kevin, additional, Butler, Martin E., additional, Kent, Matt, additional, Mallardi, Malcolm D., additional, Carriero, Nicholas, additional, Lawson, Noah, additional, Volfovsky, Natalia, additional, Edgar, Ron, additional, Marini, Richard, additional, Rana, Rishiraj, additional, Ganesan, Swami, additional, Shah, Swapnil, additional, Ramsey, Tyler, additional, Chin, Wubin, additional, Jensen, William, additional, Krentz, Anthony D., additional, Gruber, Angela J., additional, Sabo, Aniko, additional, Salomatov, Andrei, additional, Eng, Christine, additional, Muzny, Donna, additional, Astrovskaya, Irina, additional, Gibbs, Richard A., additional, Han, Xinwei, additional, Shen, Yufeng, additional, Reichardt, Louis F., additional, and Chung, Wendy K., additional

Published
2018
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28. [In Process Citation]

Author

Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), and RS: MHeNs - R2 - Mental Health

Subjects
Male, Chromosomes, Human, Pair 22, Neuropsychological Tests, Pair 22 / genetics, ddc:616.89, 0302 clinical medicine, Risk Factors, Psychology, Prospective Studies, Cognitive decline, Child, Prospective cohort study, Pediatric, Intelligence Tests, Intelligence quotient, Psychiatric assessment, Age Factors, Serious Mental Illness, 3. Good health, Psychiatry and Mental health, Mental Health, Schizophrenia, Cognitive Sciences, Female, Human, Clinical psychology, Psychosis, Adolescent, International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Chromosomes, Article, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Arts and Humanities (miscellaneous), Clinical Research, Genetic model, medicine, DiGeorge Syndrome, Dementia, Humans, Other Medical and Health Sciences, Prevention, medicine.disease, Brain Disorders, 030227 psychiatry, Chromosomes, Human, Pair 22 / genetics, Psychotic Disorders, Pair 22, Cognition Disorders, 030217 neurology & neurosurgery
Abstract

© 2015 American Medical Association. All rights reserved. Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS.Design, Setting, And Participants: Prospective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with≥1 assessment at age 8-24 years).Main Outcomes And Measures: Diagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test.Results: Among 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P < .001). Those with a negative deviation from the average cognitive trajectory observed in 22q11DS were at significantly increased risk for the development of a psychotic disorder (odds ratio = 2.49; 95%CI, 1.24-5.00; P = .01). The divergence of verbal IQ trajectories between those who subsequently developed a psychotic disorder and those who did not was distinguishable from age 11 years onward.Conclusions And Relevance: In 22q11DS, early cognitive decline is a robust indicator of the risk of developing a psychotic illness. These findings mirror those observed in idiopathic schizophrenia. The results provide further support for investigations of 22q11DS as a genetic model for elucidating neurobiological mechanisms underlying the development of psychosis.

Published
2015

29. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

Author

Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., and Pontillo, Maria

Published
2015

30. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

Author

Cluster Ontwikkelingsgerichte zorg, Ontwikkelingsstoornissen Med., Brain, Psychosociale zorg patientenzorg, Child Health, Risico & Preventie Ond., Onderzoek, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Cluster Ontwikkelingsgerichte zorg, Ontwikkelingsstoornissen Med., Brain, Psychosociale zorg patientenzorg, Child Health, Risico & Preventie Ond., Onderzoek, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., and Pontillo, Maria

Published
2015

32. Decoding Children's Social Behavior

Author

Rehg, James M., primary, Abowd, Gregory D., additional, Rozga, Agata, additional, Romero, Mario, additional, Clements, Mark A., additional, Sclaroff, Stan, additional, Essa, Irfan, additional, Ousley, Opal Y., additional, Li, Yin, additional, Kim, Chanho, additional, Rao, Hrishikesh, additional, Kim, Jonathan C., additional, Presti, Liliana Lo, additional, Zhang, Jianming, additional, Lantsman, Denis, additional, Bidwell, Jonathan, additional, and Ye, Zhefan, additional

Published
2013
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37. A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome

Author

Shashi, Vandana, Antshel, Kevin M., Bearden, Carrie E., McDonald-McGinn, Donna M., Breetvelt, Elemi J., Vogels, Annick, Vorstman, Jacob A. S., Klaassen, Petra W. J., van Amelsvoort, Therese, Weinberger, Ronnie, Young, Donald A., Jalbrzikowski, Maria, Duijff, Sasja N., Simon, Tony J., Kates, Wendy R., Ousley, Opal Y., Schneider, Maude, Butcher, Nancy J., Vicari, Stefano, Gur, Raquel E., Hooper, Stephen R., Chow, Eva W. C., Weizman, Abraham, Kahn, René S., Bassett, Anne S., Armando, Marco, Fung, Wai Lun Alan, Eliez, Stephan, Swillen, Ann, Koops, Sanne, and Gothelf, Doron

Subjects
3. Good health
Abstract

Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk for developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities, starting at a young age.

38. Web-based training in early autism screening: results from a pilot study.

Author

Kobak KA, Stone WL, Ousley OY, and Swanson A

Subjects
Child, Preschool, Computer-Assisted Instruction methods, Education, Distance methods, Education, Distance organization & administration, Female, Georgia, Humans, Infant, Internet, Male, Mass Screening methods, Pilot Projects, Tennessee, Wisconsin, Autistic Disorder diagnosis, Computer-Assisted Instruction standards, Early Diagnosis, Health Personnel education
Abstract

Background: Lack of familiarity with early signs of autism by community service providers has resulted in significant delays in children receiving early intervention services necessary to improve long-term outcomes. The Screening Tool for Autism in Toddlers and Young Children (STAT) was specifically developed to identify early behavioral features of autism. Although STAT training has been available for years, access is limited because of few STAT trainers and geographic concerns. This study evaluated the efficacy and acceptability of Web-based training of the STAT as a means of increasing accessibility to this training., Materials and Methods: Thirty professionals from three geographic areas participated. Roughly 1 of 3 had little or no training on autism assessment. The tutorial contains a general overview, administration and scoring conventions, and item-specific content and concepts. Participants completed a pretest and then completed the STAT tutorial at their own pace, followed by a post-test and a user satisfaction questionnaire., Results: Mean scores on STAT concepts significantly improved after taking the tutorial (p<0.001). At pretest, only 1 person (3%) obtained correct scores on at least 80% of the items (a priori cutoff for a "pass"), compared with 22 (73%) at post-test (p<0.001). The majority of trainees enjoyed taking the tutorial, thought it was well organized, relevant, interesting, and useful, and felt it was easy to understand and operate., Discussion: Results support Web-based training as a promising method for promoting early identification of autism and may help overcome problems associated with the critical shortage of autism-screening professionals.

Published
2011
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