49 results on '"Somer L"'
Search Results
2. Commentary: Best practices and processes for assessment of autism spectrum disorder – the intended role of standardized diagnostic instruments
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Bishop, Somer L., primary and Lord, Catherine, additional
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- 2023
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3. Job loss predicts worsening depressive symptoms for young adults with autism: A <scp>COVID</scp> ‐19 natural experiment
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Ryan Adams, Florencia Pezzimenti, Julie Lounds Taylor, Somer L. Bishop, and Shuting Zheng
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Autism Spectrum Disorder ,Autism ,Intellectual and Developmental Disabilities (IDD) ,media_common.quotation_subject ,Clinical Sciences ,Population ,Developmental & Child Psychology ,Young Adult ,Clinical Research ,2.3 Psychological ,Decent Work and Economic Growth ,COVID‐19 ,Behavioral and Social Science ,adults ,medicine ,Psychology ,Humans ,Aetiology ,Autistic Disorder ,Young adult ,education ,Research Articles ,Genetics (clinical) ,Depression (differential diagnoses) ,media_common ,Pediatric ,education.field_of_study ,Depression ,SARS-CoV-2 ,business.industry ,General Neuroscience ,Social distance ,Neurosciences ,COVID-19 ,medicine.disease ,Mental health ,United States ,Brain Disorders ,Mental Health ,Good Health and Well Being ,Autism spectrum disorder ,employment ,Unemployment ,Neurology (clinical) ,social and economic factors ,business ,Research Article ,Clinical psychology - Abstract
Adults with autism spectrum disorder (ASD) experience high rates of both unemployment and depression. Though job loss predicts increased risk of depression in the general population, studies have yet to directly examine this relationship among individuals with ASD. With the backdrop of rising unemployment due to COVID-19, we used a longitudinal design to examine whether employment changes predicted increasing depressive symptoms among young adults with ASD. Online surveys were collected from young adults with ASD at two times: just before widespread social distancing measures were adopted in the United States, and again 10 weeks later. Both time points included measurement of depressive symptoms (Beck Depression Inventory-2). At Time 2, COVID-related employment changes and the perceived impact of those changes on well-being were collected. Of the young adults who were employed at Time 1 (n=144), over one-third (37.5%) reported employment changes during the first 2 months of COVID-19. Most of this change was job loss or reductions in hours or pay ("job loss/reduction"). Controlling for Time 1 depressive symptoms, young adults who experienced job loss/reduction had significantly higher depressive symptoms at Time 2 than those without an employment change. Individuals' perceived impact of employment change also predicted depressive symptoms. These findings suggest that losing a job or experiencing reductions in hours or pay leads to worsening depressive symptoms among adults with ASD. Better supporting autistic adults in the workplace may not only decrease the likelihood of job loss, but also combat the exceedingly high rates of depression in this group. LAY SUMMARY: Though unemployment has been linked to mental health problems in the general population, this relationship is seldom considered among adults with autism. In this study, we found that adults on the autism spectrum who lost their jobs or experienced reductions in pay or hours during the first 2 months of COVID-19 had worsening depression compared to adults who did not have job changes. Our findings suggest that increasing access to employment may help alleviate poor mental health among autistic adults.
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- 2021
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4. Patterns of sleep disturbances and associations with depressive symptoms in autistic young adults
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Lampinen, Linnea A., primary, Zheng, Shuting, additional, Taylor, Julie Lounds, additional, Adams, Ryan E., additional, Pezzimenti, Florencia, additional, Asarnow, Lauren D., additional, and Bishop, Somer L., additional
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- 2022
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5. Insufficient evidence for inclusion of motor deficits in the ASD diagnostic criteria: A response to Bhat (2021)
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Bishop, Somer L., primary, Wickstrom, Jordan, additional, and Thurm, Audrey, additional
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- 2022
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6. Spontaneous Expressive Language Profiles in a Clinically Ascertained Sample of Children With Autism Spectrum Disorder
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Catherine Lord, Somer L. Bishop, Hannah R. Thomas, Morgan Cohen, Tara Rooney, and So Hyun Kim
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Psychometrics ,Autism Spectrum Disorder ,Standardized test ,behavioral disciplines and activities ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,mental disorders ,medicine ,Humans ,Language Development Disorders ,0501 psychology and cognitive sciences ,Toddler ,Child ,Genetics (clinical) ,Language ,business.industry ,General Neuroscience ,05 social sciences ,medicine.disease ,Syntax ,Semantics ,Cross-Sectional Studies ,Convergent validity ,Autism spectrum disorder ,Child, Preschool ,Autism ,Neurology (clinical) ,Psychology ,business ,030217 neurology & neurosurgery ,050104 developmental & child psychology ,Meaning (linguistics) - Abstract
Children with autism spectrum disorder (ASD) have varying degrees of language impairment across multiple domains, which may include deficits in syntactic, pragmatic, and/or semantic skills. The heterogeneity of language profiles within ASD, coupled with the limited scope of existing standardized language measures, makes a comprehensive assessment of language impairments in ASD challenging. The Observation of Spontaneous Expressive Language (OSEL) is a new measure developed to capture children's spontaneous use of language in a naturalistic setting. The current study used the OSEL to examine the patterns of spontaneous expressive language abilities of 87 clinically ascertained children with ASD from 2 to 12 years. As expected, children with ASD were significantly more impaired in their spontaneous use of language compared to typically developing peers. Syntax and narrative skills continued to increase with age from toddler to elementary school years in cross-sectional comparisons. Pragmatic skills improved form toddler to preschool years but remained stable from preschool to elementary school years. Preliminary data also demonstrated significant improvements in OSEL syntax scores over time for a subset of children followed longitudinally (n = 8). Children with ASD consistently showed more impairments in spontaneous expressive language captured on the OSEL compared to language skills measured by other more structured standardized assessments, despite moderate convergent validity among those measures. Results suggest that impairments in the spontaneous and functional use of expressive language persist into middle childhood for many children with ASD, and a comprehensive assessment approach can lead to more precisely targeted treatment addressing specific language profiles. LAY SUMMARY: This study aimed to examine the variable language profiles in children with ASD. Children with ASD were shown to have impairments in the structure, meaning, and social use of language. These challenges were captured best by a measure that was created to assess the spontaneous use of language in a naturalistic environment. The results of this study emphasize the importance of a comprehensive assessment of language in ASD to inform treatment. Autism Res 2021, 14: 720-732. © 2020 International Society for Autism Research and Wiley Periodicals LLC.
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- 2020
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7. Sex Differences in Social Participation of High School Students with Autism Spectrum Disorder
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Julie Lounds Taylor, Kara Hume, Somer L. Bishop, Jessica Dykstra Steinbrenner, Leann Smith DaWalt, Samuel L. Odom, Laura J. Hall, and Bonnie R. Kraemer
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sex differences ,Male ,Autism Spectrum Disorder ,Autism ,Special education ,0302 clinical medicine ,Psychology ,Raw score ,Aetiology ,Genetics (clinical) ,Pediatric ,Sex Characteristics ,education.field_of_study ,Schools ,General Neuroscience ,05 social sciences ,Social Participation ,Social engagement ,Mental Health ,Autism spectrum disorder ,social interactions ,Life course approach ,Female ,social and economic factors ,050104 developmental & child psychology ,Clinical psychology ,Adolescent ,Intellectual and Developmental Disabilities (IDD) ,Clinical Sciences ,education ,Population ,Developmental & Child Psychology ,behavioral disciplines and activities ,Article ,03 medical and health sciences ,Sex Factors ,Clinical Research ,2.3 Psychological ,Behavioral and Social Science ,mental disorders ,medicine ,Humans ,0501 psychology and cognitive sciences ,Students ,Neurosciences ,medicine.disease ,Mental health ,Brain Disorders ,adolescence ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
There is lack of consensus in the literature regarding sex differences in social outcomes for individuals on the autism spectrum. Furthermore, little research has focused on the social experiences of high school students with autism spectrum disorder (ASD) during the school day. Using a large racially/ethnically diverse sample of high school students with ASD receiving special education services (n = 547; 76 females, 471 males), we examined sex differences in social interactions of youth both during and after school. We also tested for sex differences in background and phenotypic characteristics including autism severity, IQ, adaptive behavior, and mental health. Results indicated few statistically significant differences between males and females in social interactions and phenotypic characteristics (including raw scores of autism symptom severity). However, analysis of standardized scores of autism symptoms suggested that symptom scores for females with ASD diverged more from same-sex peers in the normed sample than scores of males with ASD. Lack of sex difference in social participation for youth with ASD in this study stands in contrast to patterns of sex differences in the general population. Findings suggest that few differences between males and females with ASD, both in social participation and autism symptom severity, might result in females with ASD being more dissimilar to their same-sex peers than males with ASD. Implications of findings for understanding sex differences in ASD across the life course are discussed. LAY SUMMARY: The present study examined sex differences in social participation in a large, diverse sample of high school students with autism spectrum disorder (ASD). Males and females were very similar in their social interactions both at school and outside of school, based on reports by teachers and parents. Level of autism symptoms was also similar for males and females. However, standardized scores of autism symptoms, which take into account age and sex specific norms, suggested that females with ASD may have behaviors that are more divergent from their same-sex peers than males with ASD.
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- 2020
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8. Editorial Perspective: The autism waitlist crisis and remembering what families need
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Stephen M. Kanne and Somer L. Bishop
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Medical education ,Waiting Lists ,Quality assessment ,Process (engineering) ,Best practice ,05 social sciences ,Perspective (graphical) ,MEDLINE ,medicine.disease ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,Mental Recall ,Pediatrics, Perinatology and Child Health ,Prevalence ,Developmental and Educational Psychology ,medicine ,Humans ,Autism ,0501 psychology and cognitive sciences ,Autistic Disorder ,Psychology ,030217 neurology & neurosurgery ,050104 developmental & child psychology - Abstract
Differential diagnosis of autism is very complex. Best practice guidelines in the US encourage the use of specialized tools by a highly trained provider. The need for this comprehensive evaluation, coupled with the increase in autism prevalence and awareness, has led to alarmingly long wait times for diagnostic evaluations. Several solutions are currently being researched to remedy this problem and relieve the pressure, including testing new devices or procedures that can speed up the diagnostic process. Creative solutions are welcomed; however, we urge caution in the use of new devices and methods without being fully vetted. Moreover, a quality assessment provides much more than just a designation of whether or not autism is present. Thus, even in cases when alternative means could be used to more quickly arrive at a diagnosis, a comprehensive assessment with a trained clinician is needed to guide recommendations and ongoing care.
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- 2020
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9. Job loss predicts worsening depressive symptoms for young adults with autism: A COVID‐19 natural experiment
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Taylor, Julie Lounds, primary, Adams, Ryan E., additional, Pezzimenti, Florencia, additional, Zheng, Shuting, additional, and Bishop, Somer L., additional
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- 2021
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10. Perceived helpfulness of depression treatments among young adults with autism
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Zheng, Shuting, primary, Taylor, Julie Lounds, additional, Adams, Ryan, additional, Pezzimenti, Florencia, additional, and Bishop, Somer L., additional
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- 2021
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11. Spontaneous Expressive Language Profiles in a Clinically Ascertained Sample of Children With Autism Spectrum Disorder
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Thomas, Hannah R., primary, Rooney, Tara, additional, Cohen, Morgan, additional, Bishop, Somer L., additional, Lord, Catherine, additional, and Kim, So Hyun, additional
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- 2020
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12. Editorial Perspective: The autism waitlist crisis and remembering what families need
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Kanne, Stephen M., primary and Bishop, Somer L., additional
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- 2020
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13. Sex differences in scores on standardized measures of autism symptoms: a multisite integrative data analysis
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Kaat, Aaron J., primary, Shui, Amy M., additional, Ghods, Sheila S., additional, Farmer, Cristan A., additional, Esler, Amy N., additional, Thurm, Audrey, additional, Georgiades, Stelios, additional, Kanne, Stephen M., additional, Lord, Catherine, additional, Kim, Young Shin, additional, and Bishop, Somer L., additional
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- 2020
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14. The influence of parental concern on the utility of autism diagnostic instruments
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Michaeline Bresnahan, Karoline Alexandra Havdahl, Mady Hornig, Camilla Stoltenberg, W. Ian Lipkin, Andrew Pickles, Ezra Susser, Nina Stenberg, Catherine Lord, Per Magnus, Pål Surén, Anne Siri Øyen, Nina Gunnes, Somer L. Bishop, Stephen von Tetzchner, Ted Reichborn-Kjennerud, and Synnve Schjølberg
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General Neuroscience ,05 social sciences ,Norwegian ,medicine.disease ,behavioral disciplines and activities ,language.human_language ,Autism Diagnostic Observation Schedule ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,Autism spectrum disorder ,mental disorders ,Cohort ,medicine ,language ,Autism ,0501 psychology and cognitive sciences ,Neurology (clinical) ,Toddler ,Medical diagnosis ,Psychology ,030217 neurology & neurosurgery ,Genetics (clinical) ,050104 developmental & child psychology ,Clinical psychology - Abstract
The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnostic agreement of the ADOS-2 and ADI-R toddler algorithms in a more broadly based sample of 679 toddlers (age 35–47 months) from the Norwegian Mother and Child Cohort. We also examined whether parental concern about ASD influenced instrument performance, comparing toddlers identified based on parental ASD concern (n = 48) and parent-reported signs of developmental problems (screening) without a specific concern about ASD (n = 400). The ADOS cutoffs showed consistently well-balanced sensitivity and specificity. The ADI-R cutoffs demonstrated good specificity, but reduced sensitivity, missing 43% of toddlers whose parents were not specifically concerned about ASD. The ADI-R and ADOS dimensional scores agreed well with clinical diagnoses (area under the curve ≥ 0.85), contributing additively to their prediction. On the ADI-R, different cutoffs were needed according to presence or absence of parental ASD concern, in order to achieve comparable balance of sensitivity and specificity. These results highlight the importance of taking parental concern about ASD into account when interpreting scores from parental report-based instruments such as the ADI-R. While the ADOS cutoffs performed consistently well, the additive contributions of ADI-R and ADOS scores to the prediction of ASD diagnosis underscore the value of combining instruments based on parent accounts and clinician observation in evaluation of ASD. Autism Res 2017, 10: 1672–1686. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2017
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15. Discrepancy in perception of bullying experiences and later internalizing and externalizing behavior: A prospective study
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Yun Joo Koh, Bennett L. Leventhal, Soonjo Hwang, Young Shin Kim, and Somer L. Bishop
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Male ,Adolescent ,media_common.quotation_subject ,education ,Poison control ,050109 social psychology ,Suicide prevention ,Peer Group ,Occupational safety and health ,Developmental psychology ,Arts and Humanities (miscellaneous) ,Risk Factors ,Intervention (counseling) ,Perception ,Dental Anxiety ,Injury prevention ,Developmental and Educational Psychology ,Humans ,0501 psychology and cognitive sciences ,Prospective Studies ,Child ,Child Behavior Checklist ,Crime Victims ,General Psychology ,Defense Mechanisms ,media_common ,Depression ,05 social sciences ,Bullying ,Human factors and ergonomics ,Aggression ,Female ,Self Report ,Psychology ,Follow-Up Studies ,050104 developmental & child psychology ,Clinical psychology - Abstract
Discrepancy in perception of bullying experiences may lead to later internalizing or externalizing behavior in adolescents. A 1,663 South Korean 7th and 8th graders (mean age: 13.1 and 14.1 years old), were seen for a follow-up study to examine the relationships between the discrepancy in perception of their bullying experiences (defined as discrepancy between self- and peer-reports of bullying experiences) and internalizing or externalizing behavior at follow-up. Bullying was assessed by self- and peer-report. The discrepancy in perception of bullying experiences was defined by the concordance or discordance between self- and peer-reports. Internalizing and externalizing behavior was evaluated using the Youth Self Report and Child Behavior Checklist, at baseline and follow-up. Two by two ANCOVA was performed with a factorial design, categorizing discrepancy in perception of bullying experiences based on the agreement between self-report and peer-report. Internalizing/externalizing behavior-at-follow-up was used as an outcome, adjusting for other known risk factors for internalizing/externalizing behavior, including baseline internalizing/externalizing behavior, and bullying experiences. Adolescents with perceptions of bullying experiences discrepant from peer-reports showed increased internalizing/externalizing behavior at follow-up. Bullying also stands out as an independent risk factor for the development of future externalizing behavior even among adolescents with accurate perceptions of bullying experiences. These specific groups of youth warrant more focused assessment and intervention.
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- 2017
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16. Perceived social support in adults with autism spectrum disorder and attention-deficit/hyperactivity disorder
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Adriana Di Martino, Catherine Lord, Somer L. Bishop, Jessica A. Raithel, Sonia Alvarez-Fernandez, Sarah B. Kern, Yihong Zhao, Hallie R. Brown, and Eva Petkova
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General Neuroscience ,05 social sciences ,Impulsivity ,medicine.disease ,behavioral disciplines and activities ,Developmental psychology ,03 medical and health sciences ,Social support ,0302 clinical medicine ,Social cognition ,Autism spectrum disorder ,mental disorders ,medicine ,Autism ,Attention deficit hyperactivity disorder ,Anxiety ,0501 psychology and cognitive sciences ,Neurology (clinical) ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Genetics (clinical) ,Neurotypical ,050104 developmental & child psychology ,Clinical psychology - Abstract
Perceived social support (PSS) has been related to physical and mental well-being in typically developing individuals, but systematic characterizations of PSS in autism spectrum disorder (ASD) are limited. We compared self-report ratings of the multidimensional scale of PSS (MSPSS) among age- and IQ-matched groups of adults (18-58 years) with cognitively high-functioning ASD (N = 41), or attention-deficit/hyperactivity disorder (ADHD; N = 69), and neurotypical controls (NC; N = 69). Accompanying group comparisons, we used machine learning random forest (RF) analyses to explore predictors among a range of psychopathological and socio-emotional variables. Relative to both ADHD and NC, adults with ASD showed lower MSPSS ratings, specifically for the friends subscale (MSPSS-f). Across ASD and ADHD, interindividual differences in autism severity, affective empathy, symptoms of anxiety related to social interactions, hyperactivity/impulsivity, and somatization best predicted MSPSS-f. These relationships did not differ between clinical groups. While group comparisons demonstrated greater impairment in individuals with ASD, analyzing individuals' characteristics revealed cross-diagnoses similarities in regard to their MSPSS-f relationships. This is consistent with the Research Domain Criteria framework, supporting a trans-diagnostic approach as on the path toward "precision medicine." Autism Res 2017, 10: 866-877. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2017
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17. Social participation and its relation to internalizing symptoms among youth with autism spectrum disorder as they transition from high school
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Somer L. Bishop, Julie Lounds Taylor, and Ryan Adams
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Data collection ,General Neuroscience ,Transition (fiction) ,education ,05 social sciences ,medicine.disease ,Social engagement ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,Autism spectrum disorder ,medicine ,Autism ,0501 psychology and cognitive sciences ,Neurology (clinical) ,Social isolation ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Genetics (clinical) ,050104 developmental & child psychology ,Clinical psychology - Abstract
In the present study, we examined how unstructured (e.g., spending time with friends or co-workers) and structured (e.g., attending social events at a place of workshop, sports teams) social participation changed from before to after high school for youth with autism spectrum disorders (ASD), as well as the longitudinal and concurrent relations between social participation and internalizing symptoms. Participants included 36 families of youth with ASD who were all in their last year of high school at the first time point of data collection, and who were out of high school for an average of 9 months at the second time point. Social participation and internalizing symptoms were determined using parental report. There was no average change in the amount of unstructured social participation after high school exit, although substantial individual variability was observed. Participation in structured social activities significantly declined after high school exit. Youth who had more structured social participation while in high school were significantly more likely to have gains in their unstructured social participation after high school exit. Turning to relationships between internalizing and social activities, more internalizing symptoms while youth with ASD were in high school significantly predicted increasing social isolation after high school exit (both in terms of structured and unstructured activities). Results point to the likely need for additional supports during the transition to adulthood for youth with ASD who have internalizing problems. Autism Res 2016. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 663-672. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2016
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18. Development and validation of a streamlined autism case confirmation approach for use in epidemiologic risk factor research in prospective cohorts
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Craig J. Newschaffer, Sarah Paterson, Wendy L. Stone, Somer L. Bishop, Lindsay Berrigan, Anne L. Golden, Zachary Warren, Lisa V. Ibañez, Alice Kuo, Kimberly D. Lakes, Diane Burkom, Emily Schriver, Rebecca Landa, and Daniel S. Messinger
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medicine.medical_specialty ,business.industry ,General Neuroscience ,05 social sciences ,Context (language use) ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,mental disorders ,Epidemiology ,Criterion validity ,Medicine ,Autism ,0501 psychology and cognitive sciences ,Observational study ,Neurology (clinical) ,Risk factor ,business ,Prospective cohort study ,Psychiatry ,030217 neurology & neurosurgery ,Genetics (clinical) ,050104 developmental & child psychology ,Cohort study - Abstract
The cost associated with incorporating standardized observational assessments and diagnostic interviews in large-scale epidemiologic studies of autism spectrum disorders (ASD) risk factors can be substantial. Streamlined approaches for confirming ASD case status would benefit these studies. We conducted a multi-site, cross-sectional criterion validity study in a convenience sample of 382 three-year olds scheduled for neurodevelopmental evaluation. ASD case classification as determined by three novel assessment instruments (the Early Video-guided Autism Screener E-VAS; the Autism Symptom Interview, ASI; the Screening Tool for Autism in Toddlers Expanded, STAT-E) each designed to be administered in less than 30 minutes by lay staff, was compared to ADOS scores and DSM-based diagnostic assessment from a qualified clinician. Sensitivity and specificity of each instrument alone and in combination were estimated. Alternative cutpoints were identified under different criteria and two-stage cross validation was used to avoid overfitting. Findings were interpreted in the context of a large, prospective pregnancy cohort study utilizing a two-stage approach to case identification. Under initial cutpoints, sensitivity ranged from 0.63 to 0.92 and specificity from 0.35 to 0.70. Cutpoints giving equal weight to sensitivity and specificity resulted in sensitivity estimates ranging from 0.45 to 0.83 and specificity ranging from 0.49 to 0.86. Several strategies were well-suited for application as a second-stage case-confirmation. These included the STAT-E alone and the parallel administration of both the E-VAS and the ASI. Use of more streamlined methods of case-confirmation in large-scale prospective cohort epidemiologic investigations of ASD risk factors appears feasible. Autism Res 2017, 10: 485-501. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2016
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19. The autism symptom interview, school-age: A brief telephone interview to identify autism spectrum disorders in 5-to-12-year-old children
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Lisa A. Croen, Marisela Huerta, Andrew Pickles, Somer L. Bishop, Vanessa H. Bal, Karoline Alexandra Havdahl, Amie Duncan, Catherine Lord, and Katherine Gotham
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medicine.medical_specialty ,General Neuroscience ,05 social sciences ,medicine.disease ,behavioral disciplines and activities ,Autism Diagnostic Observation Schedule ,03 medical and health sciences ,Nonverbal communication ,0302 clinical medicine ,Neurodevelopmental disorder ,Telephone interview ,Autism spectrum disorder ,mental disorders ,Intellectual disability ,medicine ,Autism ,0501 psychology and cognitive sciences ,Language disorder ,Neurology (clinical) ,Psychology ,Psychiatry ,030217 neurology & neurosurgery ,Genetics (clinical) ,050104 developmental & child psychology ,Clinical psychology - Abstract
This study reports on the initial validation of the Autism Symptom Interview (ASI), School-Age, a brief (15-20 min) phone interview derived from questions from the Autism Diagnostic Interview-Revised (ADI-R). The ASI, School-Age was administered by interviewers with minimal training to parents of children ages 5 to 12 who had all been previously identified with (or referred for assessment of) ASD or another neurodevelopmental disorder. Children then underwent a comprehensive assessment to determine a best-estimate clinical diagnosis of ASD (n = 159) or non-ASD (e.g. language disorder, intellectual disability, ADHD; n = 130). Clinicians who conducted the assessments were blind to ASI results. ROC analyses compared ASI scores to clinical diagnosis. Due to the small number of participants with non-ASD diagnoses who were classified as nonverbal (i.e. not yet using phrases on a daily basis), it was not possible to assess sensitivity and specificity of the nonverbal algorithm in this sample. The verbal algorithm yielded a sensitivity of 0.87 (95% CI = 0.81-0.92) and a specificity of 0.62 (95% CI = 0.53-0.70). When used in conjunction with the Autism Diagnostic Observation Schedule (ADOS), sensitivity and specificity were 0.82 (95% CI = 0.74-0.88) and 0.92 (95% CI = 0.86-0.96), respectively. Internal consistency and test-retest reliability were both excellent. Particularly for verbal school age children, the ASI may serve as a useful tool to more quickly ascertain or classify children with ASD for research or clinical triaging purposes. Additional data collection is underway to determine the utility of the ASI in children who are younger and/or nonverbal. Autism Res 2017, 10: 78-88. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2016
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20. Editorial Perspective: Longitudinal research in autism - introducing the concept of ‘chronogeneity’
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Somer L. Bishop, Stelios Georgiades, and Thomas W. Frazier
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Time Factors ,Autism Spectrum Disorder ,behavioral disciplines and activities ,03 medical and health sciences ,0302 clinical medicine ,Neurodevelopmental disorder ,mental disorders ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Cognitive science ,business.industry ,05 social sciences ,Disease progression ,Perspective (graphical) ,Variance (accounting) ,medicine.disease ,Psychiatry and Mental health ,Knowledge base ,Autism spectrum disorder ,Pediatrics, Perinatology and Child Health ,Disease Progression ,Autism ,business ,Psychology ,030217 neurology & neurosurgery ,050104 developmental & child psychology - Abstract
Autism Spectrum Disorder (ASD or autism) is a heterogeneous neurodevelopmental disorder. We are now at a critical juncture in autism research where we have the knowledge base and expertise to begin to think about studies that view heterogeneity, not as 'statistical noise' that can be 'accounted for' using data-reduction techniques (such as group trajectories), but rather as 'informative variance' that can help form a more precise and dynamic picture of autism. In this Editorial we coin a new term and introduce the concept of 'chronogeneity' for the study of autism heterogeneity in relation to the dimension of time (chrono). Using examples of ongoing research and analytical advances we build the case for the potential utility of the concept of 'chronogeneity' and argue that a refined approach to the longitudinal investigation of autism (and other neurodevelopmental disorders) may move us closer to more precise and adaptive models of care for the children and youth affected by these disorders.
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- 2017
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21. Exploring Developmental and Behavioral Heterogeneity among Preschoolers with ASD: A Cluster Analysis on Principal Components
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Zheng, Shuting, primary, Hume, Kara A., additional, Able, Harriet, additional, Bishop, Somer L., additional, and Boyd, Brian A., additional
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- 2020
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22. Utility of the Child Behavior Checklist as a Screener for Autism Spectrum Disorder
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Marisela Huerta, Stephen von Tetzchner, Somer L. Bishop, Catherine Lord, and K. Alexandra Havdahl
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medicine.medical_specialty ,General Neuroscience ,05 social sciences ,CBCL ,medicine.disease ,behavioral disciplines and activities ,Cognitive test ,03 medical and health sciences ,0302 clinical medicine ,Mood ,Autism spectrum disorder ,mental disorders ,Intellectual disability ,medicine ,False positive paradox ,Autism ,0501 psychology and cognitive sciences ,Neurology (clinical) ,Psychiatry ,Psychology ,Child Behavior Checklist ,030217 neurology & neurosurgery ,Genetics (clinical) ,050104 developmental & child psychology ,Clinical psychology - Abstract
The Child Behavior Checklist (CBCL) has been proposed for screening of autism spectrum disorders (ASD) in clinical settings. Given the already widespread use of the CBCL, this could have great implications for clinical practice. This study examined the utility of CBCL profiles in differentiating children with ASD from children with other clinical disorders. Participants were 226 children with ASD and 163 children with attention-deficit/hyperactivity disorder, intellectual disability, language disorders, or emotional disorders, aged 2-13 years. Diagnosis was based on comprehensive clinical evaluation including well-validated diagnostic instruments for ASD and cognitive testing. Discriminative validity of CBCL profiles proposed for ASD screening was examined with area under the curve (AUC) scores, sensitivity, and specificity. The CBCL profiles showed low discriminative accuracy for ASD (AUC 0.59-0.70). Meeting cutoffs proposed for ASD was associated with general emotional/behavioral problems (EBP; mood problems/aggressive behavior), both in children with and without ASD. Cutoff adjustment depending on EBP-level was associated with improved discriminative accuracy for school-age children. However, the rate of false positives remained high in children with clinical levels of EBP. The results indicate that use of the CBCL profiles for ASD-specific screening would likely result in a large number of misclassifications. Although taking EBP-level into account was associated with improved discriminative accuracy for ASD, acceptable specificity could only be achieved for school-age children with below clinical levels of EBP. Further research should explore the potential of using the EBP adjustment strategy to improve the screening efficiency of other more ASD-specific instruments.
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- 2015
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23. Rumination and Perceived Impairment Associated With Depressive Symptoms in a Verbal Adolescent-Adult ASD Sample
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Steven M. Brunwasser, Somer L. Bishop, Catherine Lord, and Katherine Gotham
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medicine.medical_specialty ,General Neuroscience ,Beck Depression Inventory ,medicine.disease ,behavioral disciplines and activities ,Social relation ,Social support ,Interpersonal relationship ,mental disorders ,Rumination ,medicine ,Autism ,Verbal fluency test ,Neurology (clinical) ,medicine.symptom ,Psychology ,Psychiatry ,Psychosocial ,Genetics (clinical) ,Clinical psychology - Abstract
The aim of this study was to examine the association between depressive symptoms and several psychosocial constructs (insight into autism symptoms, rumination, desire for social interaction, and satisfaction with social support) that may play a role in the development or maintenance of depression in verbally fluent adolescents and adults with ASD. Participants included 50 individuals with ASD and verbal IQ ≥ 70, aged 16–35 (sample size varied by measure). Elevated depressive symptoms on the Beck Depression Inventory, 2nd edition (BDI-II), were associated with greater self-perceived, autism-related impairments (n = 48), greater rumination (n = 21), and lower perceived social support (n = 37). Rumination tended to moderate the association between self-perceived autism symptoms and BDI-II scores (n = 21), and was significantly associated with ASD-related insistence on sameness behaviors (n = 18). An unexpected relationship between depressive features and social participation and motivation will need to be clarified by longitudinal research. These and similar findings contribute to our understanding of the phenomenology of depression in ASD, which is critical to the development of practical prevention and treatment. Autism Res 2014, 7: 381–391. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2014
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24. Classification of Children With Autism Spectrum Disorder by Sensory Subtype: A Case for Sensory-Based Phenotypes
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Alison E. Lane, Cynthia A. Molloy, and Somer L. Bishop
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Vestibular system ,medicine.medical_specialty ,Intelligence quotient ,Proprioception ,General Neuroscience ,Sensory system ,Audiology ,medicine.disease ,Developmental psychology ,Nonverbal communication ,Institutional repository ,Autism spectrum disorder ,mental disorders ,medicine ,Autism ,Neurology (clinical) ,Psychology ,Genetics (clinical) - Abstract
This study examines whether sensory differences can be used to classify meaningful subgroups of children with autism spectrum disorder (ASD). Caregivers of children with ASD aged 2–10 years (n = 228) completed the Short Sensory Profile. Model-based cluster analysis was used to extract sensory subtypes. The relationship of these subtypes to age, gender, autism symptom severity, and nonverbal intelligence quotient (IQ) was further explored. Four distinct sensory subtypes were identified: (a) sensory adaptive; (b) taste smell sensitive; (c) postural inattentive; and (d) generalized sensory difference. The sensory subtypes differ from each other on two dimensions: (a) the severity of reported sensory differences; and (b) the focus of differences across auditory, taste, smell, vestibular and proprioceptive domains. Examination of the clinical features of each subtype reveals two possible mechanisms of sensory disturbance in autism: (a) sensory hyperreactivity; and (b) difficulties with multisensory processing. Further, the sensory subtypes are not well explained by other variables such as age, gender, IQ, and autism symptom severity. We conclude that classification of children using sensory differences offers a promising method by which to identify phenotypes in ASD. Sensory-based phenotypes may be useful in identifying behavioral features responsive to specific interventions thereby improving intervention effectiveness. Further validation of the sensory-based phenotypes by establishing neural and physiological correlates is recommended. Autism Res 2014, 7: 322–333. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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- 2014
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25. Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders
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Somer L. Bishop, Marisela Huerta, Vanessa Hus, Andreas Buja, Abba M. Krieger, Sabata C. Lund, Katherine Gotham, and Catherine Lord
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Aggression ,General Neuroscience ,Cognition ,Irritability ,medicine.disease ,behavioral disciplines and activities ,Developmental psychology ,mental disorders ,medicine ,Anxiety ,Autism ,Neurology (clinical) ,medicine.symptom ,Child Behavior Checklist ,Psychology ,Association (psychology) ,Genetics (clinical) ,Clinical psychology ,Psychopathology - Abstract
Elevated anxiety symptoms are one of the most common forms of psychopathology to co-occur with autism spectrum disorders (ASDs). The purpose of this study was to explore the association between anxiety and ASD symptoms, particularly the degree to which the relationship is explained by insistence on sameness (IS) behaviors and/or cognitive ability. The sample included 1429 individuals aged 5:8-18:0 years who participated in the Simons Simplex Collection, a genetic consortium study of ASD. Child Behavior Checklist Anxiety Problems T-scores and Autism Diagnostic Interview-Revised "IS" item raw totals were treated as both categorical and continuous measures of anxiety and IS, respectively. Chronological age, verbal intelligence quotient (IQ), and a variety of ASD phenotype-related and other behavioral variables were assessed for potential association with anxiety and IS. Anxiety and IS continuous variables were minimally, although significantly, associated with each other and with chronological age and verbal IQ. Neither anxiety nor IS was associated with other core autism diagnostic scores. Anxiety was associated with a variety of other psychiatric and behavioral symptoms in ASD, including irritability, attention problems, and aggression, while IS was not. Anxiety and IS appear to function as distinct constructs, each with a wide range of expression in children with ASD across age and IQ levels. Thus, both variables could be of use in ASD behavioral research or in dimensional approaches to genetic exploration. Unlike IS, however, anxiety is related to non-ASD-specific behavioral symptoms.
- Published
- 2012
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26. Factors influencing scores on the social responsiveness scale
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Somer L. Bishop, Katherine Gotham, Marisela Huerta, Catherine Lord, and Vanessa Hus
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Cognition ,medicine.disease ,Affect (psychology) ,Developmental psychology ,Correlation ,Psychiatry and Mental health ,Autism spectrum disorder ,mental disorders ,parasitic diseases ,Pediatrics, Perinatology and Child Health ,Severity of illness ,Developmental and Educational Psychology ,medicine ,Autism ,Raw score ,Cognitive skill ,Psychology - Abstract
Background: The Social Responsiveness Scale (SRS) is a parent-completed screening questionnaire often used to measure autism spectrum disorders (ASD) severity. Although child characteristics are known to influence scores from other ASD-symptom measures, as well as parent-questionnaires more broadly, there has been limited consideration of how non-ASD-specific factors may affect interpretation of SRS scores. Previous studies have explored effects of behavior problems on SRS specificity, but have not addressed influences on the use of the SRS as a quantitative measure of ASD-symptoms. Method: Raw scores (SRS-Raw) from parent-completed SRS were analyzed for 2,368 probands with ASD and 1,913 unaffected siblings. Regression analyses were used to assess associations between SRS scores and demographic, language, cognitive, and behavior measures. Results: For probands, higher SRS-Raw were associated with greater non-ASD behavior problems, higher age, and more impaired language and cognitive skills, as well as scores from other parent report measures of social development and ASD-symptoms. For unaffected siblings, having more behavior problems predicted higher SRS-Raw; male gender, younger age, and poorer adaptive social and expressive communication skills also showed small, but significant effects. Conclusions: When using the SRS as a quantitative phenotype measure, the influence of behavior problems, age, and expressive language or cognitive level on scores must be considered. If effects of non-ASD-specific factors are not addressed, SRS scores are more appropriately interpreted as indicating general levels of impairment, than as severity of ASDspecific symptoms or social impairment. Additional research is needed to consider how these factors influence the SRS’ sensitivity and specificity in large, clinical samples including individuals with disorders other than ASD. Keywords: Social Responsiveness Scale, autism spectrum disorder, behavior problems, age, language level.
- Published
- 2012
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27. The autism diagnosis in translation: shared affect in children and mouse models of ASD
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Somer L. Bishop and Garet P. Lahvis
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media_common.quotation_subject ,Child Behavior ,Mice, Inbred Strains ,Empathy ,Diagnostic tools ,Affect (psychology) ,Article ,Developmental psychology ,Mice ,Nonverbal communication ,mental disorders ,medicine ,Animals ,Humans ,Autistic Disorder ,Nonverbal Communication ,Child ,Social Behavior ,Genetics (clinical) ,media_common ,Behavior, Animal ,General Neuroscience ,Direct observation ,Infant ,medicine.disease ,Affect ,Disease Models, Animal ,Child, Preschool ,Social function ,Autism ,Neurology (clinical) ,Vocalization, Animal ,Psychology ,Clinical skills ,Cognitive psychology - Abstract
In the absence of molecular biomarkers that can be used to diagnose ASD, current diagnostic tools depend upon clinical assessments of behavior. Research efforts with human subjects have successfully utilized standardized diagnostic instruments, which include clinician interviews with parents and direct observation of the children themselves [Risi et al., 2006]. However, because clinical instruments are semi-structured and rely heavily on dynamic social processes and clinical skill, scores from these measures do not necessarily lend themselves directly to experimental investigations into the causes of ASD. Studies of the neurobiology of autism require experimental animal models. Mice are particularly useful for elucidating genetic and toxicological contributions to impairments in social function [Halladay et al., 2009]. Behavioral tests have been developed that are relevant to autism [Crawley, 2004, 2007], including measures of repetitive behaviors [Lewis, Tanimura, Lee, & Bodfish, 2007; Moy et al., 2008], social behavior [Brodkin, 2007; Lijam et al., 1997; Moretti, Bouwknecht, Teague, Paylor, & Zoghbi, 2005], and vocal communication [D'Amato et al., 2005; Panksepp et al., 2007; Scattoni et al., 2008]. Advances also include development of high-throughput measures of mouse sociability that can be used to reliably compare inbred mouse strains [Moy et al., 2008; Nadler et al., 2004], as well as measures of social reward [Panksepp & Lahvis, 2007] and empathy [Chen, Panksepp, & Lahvis, 2009; Langford et al., 2006]. With continued generation of mouse gene-targeted mice that are directly relevant to genetic linkages in ASD, there remains an urgent need to utilize a full suite of mouse behavioral tests that allows for a comprehensive assessment of the spectrum of social difficulties relevant to ASD. Using impairments in shared affect as an example, this paper explores potential avenues for collaboration between clinical and basic scientists, within an amply considered translational framework.
- Published
- 2011
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28. Autism Spectrum Disorders and commentaries
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Catherine Lord and Somer L. Bishop
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medicine.medical_specialty ,medicine ,Autism ,Audiology ,medicine.disease ,Psychology ,Spectrum (topology) - Published
- 2010
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29. The influence of parental concern on the utility of autism diagnostic instruments
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Havdahl, Karoline Alexandra, primary, Bishop, Somer L., additional, Surén, Pål, additional, Øyen, Anne‐Siri, additional, Lord, Catherine, additional, Pickles, Andrew, additional, von Tetzchner, Stephen, additional, Schjølberg, Synnve, additional, Gunnes, Nina, additional, Hornig, Mady, additional, Lipkin, W. Ian, additional, Susser, Ezra, additional, Bresnahan, Michaeline, additional, Magnus, Per, additional, Stenberg, Nina, additional, Reichborn‐Kjennerud, Ted, additional, and Stoltenberg, Camilla, additional
- Published
- 2017
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30. Editorial Perspective: Longitudinal research in autism - introducing the concept of ‘chronogeneity’
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Georgiades, Stelios, primary, Bishop, Somer L., additional, and Frazier, Thomas, additional
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- 2017
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31. Perceived social support in adults with autism spectrum disorder and attention-deficit/hyperactivity disorder
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Alvarez-Fernandez, Sonia, primary, Brown, Hallie R., additional, Zhao, Yihong, additional, Raithel, Jessica A., additional, Bishop, Somer L., additional, Kern, Sarah B., additional, Lord, Catherine, additional, Petkova, Eva, additional, and Di Martino, Adriana, additional
- Published
- 2017
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32. Commentary: Advancing measurement of ASD severity and social competence: a reply to Constantino and Frazier (2013)
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Somer L. Bishop, Catherine Lord, Vanessa Hus, Katherine Gotham, and Marisela Huerta
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Psychiatry and Mental health ,Screening test ,Interpersonal competence ,Pediatrics, Perinatology and Child Health ,Developmental and Educational Psychology ,medicine ,Autism ,Social competence ,medicine.disease ,Psychology ,Clinical psychology ,Developmental psychology - Published
- 2013
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33. Social participation and its relation to internalizing symptoms among youth with autism spectrum disorder as they transition from high school
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Lounds Taylor, Julie, primary, Adams, Ryan E., additional, and Bishop, Somer L., additional
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- 2016
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34. Understanding definitions of minimally verbal across instruments: evidence for subgroups within minimally verbal children and adolescents with autism spectrum disorder
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Bal, Vanessa Hus, primary, Katz, Terry, additional, Bishop, Somer L., additional, and Krasileva, Kate, additional
- Published
- 2016
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35. The autism symptom interview, school‐age: A brief telephone interview to identify autism spectrum disorders in 5‐to‐12‐year‐old children
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Bishop, Somer L., primary, Huerta, Marisela, additional, Gotham, Katherine, additional, Alexandra Havdahl, Karoline, additional, Pickles, Andrew, additional, Duncan, Amie, additional, Hus Bal, Vanessa, additional, Croen, Lisa, additional, and Lord, Catherine, additional
- Published
- 2016
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36. Use of machine learning to improve autism screening and diagnostic instruments: effectiveness, efficiency, and multi‐instrument fusion
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Bone, Daniel, primary, Bishop, Somer L., additional, Black, Matthew P., additional, Goodwin, Matthew S., additional, Lord, Catherine, additional, and Narayanan, Shrikanth S., additional
- Published
- 2016
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37. Subdimensions of social-communication impairment in autism spectrum disorder
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Bishop, Somer L., primary, Havdahl, Karoline Alexandra, additional, Huerta, Marisela, additional, and Lord, Catherine, additional
- Published
- 2016
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38. Utility of the Child Behavior Checklist as a Screener for Autism Spectrum Disorder
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Havdahl, K. Alexandra, primary, von Tetzchner, Stephen, additional, Huerta, Marisela, additional, Lord, Catherine, additional, and Bishop, Somer L., additional
- Published
- 2015
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39. Rumination and Perceived Impairment Associated With Depressive Symptoms in a Verbal Adolescent–Adult ASD Sample
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Gotham, Katherine, primary, Bishop, Somer L., additional, Brunwasser, Steven, additional, and Lord, Catherine, additional
- Published
- 2014
- Full Text
- View/download PDF
40. Classification of Children With Autism Spectrum Disorder by Sensory Subtype: A Case for Sensory-Based Phenotypes
- Author
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Lane, Alison E., primary, Molloy, Cynthia A., additional, and Bishop, Somer L., additional
- Published
- 2014
- Full Text
- View/download PDF
41. Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders
- Author
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Gotham, Katherine, primary, Bishop, Somer L., additional, Hus, Vanessa, additional, Huerta, Marisela, additional, Lund, Sabata, additional, Buja, Andreas, additional, Krieger, Abba, additional, and Lord, Catherine, additional
- Published
- 2012
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- View/download PDF
42. The autism diagnosis in translation: shared affect in children and mouse models of ASD
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Bishop, Somer L., primary and Lahvis, Garet P., additional
- Published
- 2011
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- View/download PDF
43. Autism Spectrum Disorders and commentaries
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Lord, Catherine, primary and Bishop, Somer L., additional
- Published
- 2010
- Full Text
- View/download PDF
44. Can School Nurses Save Money by Treating School Employees as well as Students?
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Perrin, Karen M., primary, Goad, Somer L., additional, and Williams, Carol, additional
- Published
- 2002
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45. Disorders of Calcium Metabolism Investigated with Strontium
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De SOMER, L., primary, COENEGRACHT, J., additional, and DORLEYN, M., additional
- Published
- 1964
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46. Fast and furious: The neutrophil and its armamentarium in health and disease.
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Metzemaekers M, Malengier-Devlies B, Gouwy M, De Somer L, Cunha FQ, Opdenakker G, and Proost P
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- Humans, Neutrophils, Immunity, Innate, Adaptive Immunity, Inflammation, Neoplasms, Anti-Infective Agents
- Abstract
Neutrophils are powerful effector cells leading the first wave of acute host-protective responses. These innate leukocytes are endowed with oxidative and nonoxidative defence mechanisms, and play well-established roles in fighting invading pathogens. With microbicidal weaponry largely devoid of specificity and an all-too-well recognized toxicity potential, collateral damage may occur in neutrophil-rich diseases. However, emerging evidence suggests that neutrophils are more versatile, heterogeneous, and sophisticated cells than initially thought. At the crossroads of innate and adaptive immunity, neutrophils demonstrate their multifaceted functions in infectious and noninfectious pathologies including cancer, autoinflammation, and autoimmune diseases. Here, we discuss the kinetics of neutrophils and their products of activation from bench to bedside during health and disease, and provide an overview of the versatile functions of neutrophils as key modulators of immune responses and physiological processes. We focus specifically on those activities and concepts that have been validated with primary human cells., (© 2023 Wiley Periodicals LLC.)
- Published
- 2023
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47. Synovial Fluid Neutrophils From Patients With Juvenile Idiopathic Arthritis Display a Hyperactivated Phenotype.
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Metzemaekers M, Malengier-Devlies B, Yu K, Vandendriessche S, Yserbyt J, Matthys P, De Somer L, Wouters C, and Proost P
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- Adaptive Immunity immunology, Adolescent, Antigens, CD metabolism, Arthritis, Juvenile metabolism, CD11b Antigen metabolism, Cell Adhesion, Cell Adhesion Molecules metabolism, Child, Child, Preschool, Down-Regulation, Female, Flow Cytometry, GPI-Linked Proteins metabolism, HLA-DR Antigens immunology, Humans, Immunity, Innate immunology, Immunophenotyping, Intercellular Adhesion Molecule-1 metabolism, L-Selectin immunology, Lewis X Antigen metabolism, Male, Neutrophils metabolism, Pleural Effusion, Up-Regulation, Arthritis, Juvenile immunology, Neutrophil Activation immunology, Neutrophils immunology, Receptors, CXCR3 immunology, Receptors, Interleukin-8A immunology, Receptors, Interleukin-8B immunology, Synovial Fluid cytology
- Abstract
Objective: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. The predominant subtypes, oligoarticular and polyarticular JIA, are traditionally considered to be autoimmune diseases with a central role for T cells and autoantibodies. Mounting evidence suggests an important role for neutrophils in JIA pathogenesis. We undertook this study to investigate the phenotypic features of neutrophils present in the blood and inflamed joints of patients., Methods: JIA synovial fluid (SF) and parallel blood samples from JIA patients and healthy children were collected. SF-treated neutrophils from healthy donors and pleural neutrophils from patients with pleural effusion were investigated as controls for SF exposure and extravasation. Multicolor flow cytometry panels allowed for in-depth phenotypic analysis of neutrophils, focusing on the expression of adhesion molecules, activation, and maturation markers and chemoattractant receptors. Multiplex technology was used to quantify cytokines in plasma and SF., Results: SF neutrophils displayed an activated, hypersegmented phenotype with decreased CD62L expression, up-regulation of adhesion molecules CD66b, CD11b, and CD15, and down-regulation of CXCR1/2. An elevated percentage of CXCR4-positive neutrophils was detected in SF from patients. Pleural neutrophils showed less pronounced maturation differences. Strikingly, significant percentages of SF neutrophils showed a profound up-regulation of atypical neutrophil markers, including CXCR3, intercellular adhesion molecule 1, and HLA-DR., Conclusion: Our data show that neutrophils in inflamed joints of JIA patients have an activated phenotype. This detailed molecular analysis supports the notion that a complex intertwining between these innate immune cells and adaptive immune events drives JIA., (© 2020, American College of Rheumatology.)
- Published
- 2021
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48. Inflammatory Gene Expression Profile and Defective Interferon-γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients.
- Author
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Put K, Vandenhaute J, Avau A, van Nieuwenhuijze A, Brisse E, Dierckx T, Rutgeerts O, Garcia-Perez JE, Toelen J, Waer M, Leclercq G, Goris A, Van Weyenbergh J, Liston A, De Somer L, Wouters CH, and Matthys P
- Subjects
- Arthritis, Juvenile genetics, Cells, Cultured, Gene Expression, Humans, Phenotype, Arthritis, Juvenile immunology, Granzymes genetics, Interferon-gamma genetics, Killer Cells, Natural physiology
- Abstract
Objective: Systemic juvenile idiopathic arthritis (JIA) is an immunoinflammatory disease characterized by arthritis and systemic manifestations. The role of natural killer (NK) cells in the pathogenesis of systemic JIA remains unclear. The purpose of this study was to perform a comprehensive analysis of NK cell phenotype and functionality in patients with systemic JIA., Methods: Transcriptional alterations specific to NK cells were investigated by RNA sequencing of highly purified NK cells from 6 patients with active systemic JIA and 6 age-matched healthy controls. Cytokines (NK cell-stimulating and others) were quantified in plasma samples (n = 18). NK cell phenotype and cytotoxic activity against tumor cells were determined (n = 10), together with their interferon-γ (IFNγ)-producing function (n = 8)., Results: NK cells from the systemic JIA patients showed an altered gene expression profile compared to cells from the healthy controls, with enrichment of immunoinflammatory pathways, increased expression of innate genes including TLR4 and S100A9, and decreased expression of immune-regulating genes such as IL10RA and GZMK. In the patients' plasma, interleukin-18 (IL-18) levels were increased, and a decreased ratio of IFNγ to IL-18 was observed. NK cells from the patients exhibited specific alterations in the balance of inhibitory and activating receptors, with decreased killer cell lectin-like receptor G1 and increased NKp44 expression. Although NK cells from the patients showed increased granzyme B expression, consistent with intact cytotoxicity and degranulation against a tumor cell line, decreased granzyme K expression in CD56
bright NK cells and defective IL-18-induced IFNγ production and signaling were demonstrated., Conclusion: NK cells are active players in the inflammatory environment typical of systemic JIA. Although their cytotoxic function is globally intact, subtle defects in NK-related pathways, such as granzyme K expression and IL-18-driven IFNγ production, may contribute to the immunoinflammatory dysregulation in this disease., (© 2016, American College of Rheumatology.)- Published
- 2017
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49. Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.
- Author
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Van Eyck L, De Somer L, Pombal D, Bornschein S, Frans G, Humblet-Baron S, Moens L, de Zegher F, Bossuyt X, Wouters C, and Liston A
- Subjects
- Adolescent, Female, Humans, IgA Deficiency complications, Interferon-Induced Helicase, IFIH1, Lupus Erythematosus, Systemic complications, Sequence Analysis, DNA, DEAD-box RNA Helicases genetics, IgA Deficiency genetics, Lupus Erythematosus, Systemic genetics
- Abstract
Objective: To identify the underlying genetic defect in a 16-year-old girl with severe early-onset and refractory systemic lupus erythematosus (SLE), IgA deficiency, and mild lower limb spasticity without neuroradiologic manifestations., Methods: Whole-exome sequencing and extensive immunologic analysis were performed on samples from the index patient., Results: We identified a de novo p.R779H IFIH1 gain-of-function mutation in a patient with severe early-onset SLE, selective IgA deficiency, and mild lower limb spasticity. The same mutation in IFIH1 was recently identified in patients with Aicardi-Goutières syndrome, a rare neuroimmunologic disorder associated with elevated levels of type I interferon (IFN). IFN induced with helicase C domain 1 functions as an intracellular innate immune receptor that senses viral nucleic acids and leads to the induction of type I IFN and proinflammatory cytokines. Despite systemic immunosuppressive treatment, disease activity persisted in the patient and was associated with elevated serum levels of IFNα and up-regulation of IFIH1 itself., Conclusion: This finding adds a new genetic causation for Mendelian lupus and greatly extends the disease spectrum associated with mutations in IFIH1 (ranging from inflammatory encephalopathy to prototypic systemic autoimmune disease). This marked phenotypic heterogeneity, despite an identical mutation, demonstrates the importance of modifying factors in type I IFN-dependent pathologies caused by mutations in IFIH1., (© 2015, American College of Rheumatology.)
- Published
- 2015
- Full Text
- View/download PDF
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