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28 results on '"Kerri P. Nowell"'

1. Corrigendum: Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders

Author

Shuting Zheng, Aaron Kaat, Cristan Farmer, Audrey Thurm, Catherine A. Burrows, Stephen Kanne, Stelios Georgiades, Amy Esler, Catherine Lord, Nicole Takahashi, Kerri P. Nowell, Elizabeth Will, Jane Roberts, and Somer L. Bishop

Subjects
autism symptoms, measurement invariance, language level, non-verbal mental age, ADOS, Psychology, BF1-990
Published
2022
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2. Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders

Author

Shuting Zheng, Aaron Kaat, Cristan Farmer, Audrey Thurm, Catherine A. Burrows, Stephen Kanne, Stelios Georgiades, Amy Esler, Catherine Lord, Nicole Takahashi, Kerri P. Nowell, Elizabeth Will, Jane Roberts, and Somer L. Bishop

Subjects
autism symptoms, measurement invariance, language level, non-verbal mental age, ADOS, Psychology, BF1-990
Abstract

Increasing numbers of children with known genetic conditions and/or intellectual disability are referred for evaluation of autism spectrum disorder (ASD), highlighting the need to refine autism symptom measures to facilitate differential diagnoses in children with cognitive and language impairments. Previous studies have reported decreased specificity of ASD screening and diagnostic measures in children with intellectual disability. However, little is known about how cognitive and language abilities impact the measurement of specific ASD symptoms in this group. We aggregated a large sample of young children (N = 1196; aged 31–119 months) to examine measurement invariance of ASD symptoms among minimally verbal children within the context of the Autism Diagnostic Observation Schedule (ADOS) Module 1. Using confirmatory factor analysis (CFA) and moderated non-linear factor analysis (MNLFA), we examined how discrete behaviors were differentially associated with the latent symptom domains of social communication impairments (SCI) and restricted and repetitive behaviors (RRB) across spoken language levels and non-verbal mental age groupings. While the two-factor structure of SCI and RRB held consistently across language and cognitive levels, only partial invariance was observed for both ASD symptom domains of SCI and RRB. Specifically, four out of the 15 SCI items and one out of the three RRB items examined showed differential item functioning between children with “Few to No Words” and those with “Some Words”; and one SCI item and one RRB item showed differential item functioning across non-verbal mental age groups. Moreover, even after adjusting for the differential item functioning to reduce measurement bias across groups, there were still differences in ASD symptom domain scores across spoken language levels. These findings further underscore the influence of spoken language level on measurement of ASD symptoms and the importance of measuring ASD symptoms within refined spoken language levels, even among those with minimal verbal abilities.

Published
2022
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3. Intellectual Functioning and Autism Spectrum Disorder: Can Profiles Inform Identification of Subpopulations?

Author

Kerri P. Nowell, Robin Goin-Kochel, Samuel McQuillin, and Sarah S. Mire

Abstract

Profiles of scores on measures of intellectual functioning may aid in understanding etiology and developing targeted intervention in autism spectrum disorder (ASD) by providing details about specific phenotypes or subpopulations of ASD. Research investigating the relationship between ASD symptoms and intellectual functioning suggests that scores on the factors comprising global measures of intellectual functioning may be related to ASD symptoms (e.g., Joseph et al. J Child Psychol Psychiatry 43:807-821, 2002). Research has been limited by methodological problems, such as defining samples using unreliable subtypes of ASD and an overreliance on variable-centered methodological strategies. In the current paper, the authors provide a summary of existing research related to ASD symptoms and measures of intellectual functioning, review recent research identifying subpopulations in ASD, and provide goals for future areas of research in this area.

Published
2017
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4. The network structure of the Special Interests Survey

Author

Cynthia E. Brown, Marshall T. Beauchamp, Kerri P. Nowell, Courtney J. Bernardin, and Stephen M. Kanne

Subjects
General Neuroscience, Neurology (clinical), Genetics (clinical)
Abstract

Despite the prevalence of special interests (SIs) in autistic youth, research on SIs and how they are characterized is limited. Indeed, a significant challenge in identifying and classifying SIs lies in capturing the vast and diverse scope of potential interests in this population. The recently developed Special Interest Survey (SIS) is a caregiver-report measure to improve SI characterization by capturing a broad range of past and current SIs. In the present study, we performed a network analysis of the SIS to examine relations between SIs and identify distinct interest clusters. We analyzed data from 1992 caregivers of autistic youths who completed the SIS. The network of SIs was densely interconnected, characterized by six communities of interests: Fact-seeking, Engineering, Order-seeking, Object Attachment, Entertainment, and Scholarly Pursuits. Findings suggest that the structure of the observed network is likely to generalize to similar samples. Of all the SIs and their respective communities, behaviors related to Fact-seeking were identified as the most central, meaning that endorsement of these interests was most strongly related to co-endorsement of other SIs. These findings lay the groundwork for future work on SIs, such as improved assessment techniques and linkage of SIs to a broad range of demographic variables, youth characteristics, and autism symptoms.

Published
2022

5. The Influence of Demographic Factors on the Identification of Autism Spectrum Disorder: A Review and Call for Research

Author

Kerri P. Nowell, Christie M. Brewton, Elizabeth Allain, and Sarah S. Mire

Abstract

Autism spectrum disorder (ASD) diagnoses are made based on a pattern of behavioral symptoms, yet a growing body of research indicates that when, and indeed whether, an individual receives a diagnosis of ASD is influenced by myriad demographic factors including race, ethnicity, socioeconomic status (SES), and parental education level. The current manuscript provides a focused review of a subset of existing literature chosen to demonstrate how demographic factors may be related to the identification of individuals with ASD within the United States. Several possible explanations for existing disparities are discussed, along with clinical implications for professionals working with children from diverse backgrounds who are suspected of having ASD. Additional research in this area is needed to facilitate development of effective means to eliminate the diagnostic disparities.

Published
2015
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7. Characterization of Special Interests in Autism Spectrum Disorder: A Brief Review and Pilot Study Using the Special Interests Survey

Author

Stephen M. Kanne, Cynthia E. Brown, Courtney J. Bernardin, and Kerri P. Nowell

Subjects
Television viewing, 05 social sciences, Mean age, Special Interest Group, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Autism spectrum disorder, Clinical diagnosis, Developmental and Educational Psychology, medicine, Autism, 0501 psychology and cognitive sciences, Age of onset, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology
Abstract

Special interests (SIs) are part of the diagnostic criteria for autism spectrum disorder (ASD). Though they can have both positive and negative effects on functioning and long-term outcomes, research on SIs is limited. This pilot study used a newly developed parent-report measure, the Special Interest Survey, to characterize SIs in 1992 children with ASD. The mean number of current special interests reported was 9, with television, objects, and music being most commonly endorsed interests. The mean age of onset reported across all categories was 5.24 years, with duration of past interests most often exceeding 2 years. Age of onset, interference, and relative unusualness of the SI was varied across categories. Interference was significantly correlated with the unusualness of the SIs.

Published
2020

8. Equipping Community Based Psychologists to Deliver Best Practice ASD Diagnoses Using The ECHO Autism Model

Author

Kristin Sohl, Kourtney Christopher, and Kerri P. Nowell

Subjects
medicine.medical_specialty, genetic structures, Echo (communications protocol), Best practice, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Intervention (counseling), mental disorders, Developmental and Educational Psychology, Medicine, 0501 psychology and cognitive sciences, Medical diagnosis, Psychiatry, Receipt, Community based, business.industry, 05 social sciences, medicine.disease, Clinical Psychology, Autism spectrum disorder, Pediatrics, Perinatology and Child Health, Autism, business, 050104 developmental & child psychology
Abstract

Timely diagnosis of autism spectrum disorder (ASD) is paramount to ensuring access to evidence-based intervention for individuals with ASD and their families, but the receipt of ASD diagnoses conti...

Published
2020

9. Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients

Author

Julie E. Muckerman, Nicole Takahashi, Judith H. Miles, Muaid Ithman, and Kerri P. Nowell

Subjects
Pediatrics, medicine.medical_specialty, education.field_of_study, Down syndrome, Catatonia, business.industry, medicine.medical_treatment, Population, Lorazepam, medicine.disease, Dextromethorphan/Quinidine, 030227 psychiatry, 03 medical and health sciences, 0302 clinical medicine, Electroconvulsive therapy, mental disorders, Cohort, medicine, Young adult, business, education, 030217 neurology & neurosurgery, medicine.drug
Abstract

Objective The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient's treatment responses. Longitudinal assessment of each patient's response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy. Study design Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients' longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose. Results Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7-6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports. Conclusion Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.

Published
2019

10. Influences on Parent Perceptions of Autism Severity

Author

Kristen Dovgan, Juliana Aguilar, and Kerri P. Nowell

Subjects
050103 clinical psychology, Cognitive Neuroscience, 05 social sciences, 050301 education, medicine.disease, Psychiatry and Mental health, Neurology, Autism spectrum disorder, Pediatrics, Perinatology and Child Health, medicine, Autism, 0501 psychology and cognitive sciences, Neurology (clinical), Parental perception, Psychology, 0503 education, Clinical psychology
Abstract

Research in autism spectrum disorder (ASD) often relies on parent report for describing behavior and symptoms. Psychometric studies in assessment have supported the utility of parent report; however, cultural and external factors may influence ratings of severity. The purpose of this study was to investigate if parent characteristics influence the severity rating of ASD over and above child characteristics. Using the 2009–2010 National Survey of Children With Special Health Care Needs (NS-CSHCN), we examined 3,037 parents who answered questions about their child’s ASD symptoms. We used hierarchical multiple regression to assess child-level variables (age, developmental delay, intellectual disability, and number of co-occurring emotional or behavioral conditions) and family-level variables (education, income, and language). We also performed mediation analyses to examine the relationship between language and severity ratings. Parents rated their child’s ASD as mild (52.3%), moderate (36%), or severe (11.8%). Parent-level variables explained a significant amount of variance over and above child-level variables. Several different stressors and challenges for English Language Learner parents mediated the relationship between language and severe ASD ratings. When asking parents to evaluate a child’s ASD symptoms, clinicians and researchers must consider the influence of sociocultural factors on ratings. In addition, because parent perception can drive help-seeking behaviors, professionals need to understand that there may be differences across sociocultural groups. Future research should investigate which sociocultural perceptions or expectations may be affecting parent ratings of ASD severity.

Published
2018

11. Brief report: The impact of the broad autism phenotype on parent perception of autism symptoms in their children with and without autism spectrum disorder compared to teachers

Author

Kristen Dovgan, Kerri P. Nowell, and Theresa Hecmanczuk

Subjects
Clinical Psychology, Phenotype, Autism Spectrum Disorder, Siblings, Developmental and Educational Psychology, Humans, Perception, Autistic Disorder
Abstract

Evaluation of children with autism spectrum disorder (ASD) includes caregiver-reported rating scales of symptom presentation. The extent to which a broad autism phenotype (BAP) in parents of children with ASD might impact their endorsement of autism symptoms in their children with and without ASD has not been well evaluated.This study analyzed whether varying degrees of parental BAP were associated with reported autism symptoms in offspring with and without ASD.We used the Broad Autism Phenotype Questionnaire as a measure of BAP in parents and parent- and teacher-report on the Social Responsiveness Scale (SRS) to assess autism symptoms in children with ASD and their typically developing (TD) siblings (N = 5714). We assessed the relationship between parental BAP and parent-teacher discordance. We compared teacher reports of autism symptoms in children with varying degrees of BAP exposure.Mothers with higher levels of BAP over-reported autism symptoms in their children (compared to teachers) than mothers with lower BAP. TD children from parents with greater BAP displayed more autism symptoms than children from households with less BAP.BAP is associated with parent report of autism symptoms when compared to teacher report. For children with ASD, it is possible that differences in ratings reflect parent perception and not autism symptomatology; whereas, TD children from households with higher levels of BAP exposure showed more phenotypic autism symptom presentation on teacher-completed measures. Researchers and clinicians should consider BAP when interpreting caregiver and teacher reports.

Published
2021

12. Characterization of Special Interests in Autism Spectrum Disorder: A Brief Review and Pilot Study Using the Special Interests Survey

Author

Kerri P, Nowell, Courtney J, Bernardin, Cynthia, Brown, and Stephen, Kanne

Subjects
Male, Adolescent, Autism Spectrum Disorder, Child, Preschool, Surveys and Questionnaires, Humans, Female, Pilot Projects, Child
Abstract

Special interests (SIs) are part of the diagnostic criteria for autism spectrum disorder (ASD). Though they can have both positive and negative effects on functioning and long-term outcomes, research on SIs is limited. This pilot study used a newly developed parent-report measure, the Special Interest Survey, to characterize SIs in 1992 children with ASD. The mean number of current special interests reported was 9, with television, objects, and music being most commonly endorsed interests. The mean age of onset reported across all categories was 5.24 years, with duration of past interests most often exceeding 2 years. Age of onset, interference, and relative unusualness of the SI was varied across categories. Interference was significantly correlated with the unusualness of the SIs.

Published
2020

13. Investigating health-related knowledge and independence for physical and mental health conditions in young adults with autism spectrum disorder

Author

Andrew Tait, Kerri P. Nowell, Emily Helterbrand, and Nancy Cheak-Zamora

Subjects
030506 rehabilitation, Multivariate analysis, business.industry, 05 social sciences, Psychological intervention, Regression analysis, medicine.disease, behavioral disciplines and activities, Mental health, 03 medical and health sciences, Psychiatry and Mental health, Clinical Psychology, Autism spectrum disorder, mental disorders, Intellectual disability, Health care, Developmental and Educational Psychology, medicine, 0501 psychology and cognitive sciences, Young adult, 0305 other medical science, Psychology, business, 050104 developmental & child psychology, Clinical psychology
Abstract

Background Young adults with autism spectrum disorder’s (YA-ASD) ability to manage their healthcare needs is imperative as they transition to adult care. Method This study evaluated YA-ASD’s knowledge and care-seeking behavior for Physical and Mental Health (PH/MH) conditions. Caregivers (n = 501), of YA-ASD 16–25 years completed surveys. This study examined the extent to which YA-ASD could describe and seek care for their physical and mental health conditions (i.e. describing and care-seeking behaviors). Multivariate analyses further evaluated YA-ASD’s ability to and predictors of describing and care-seeking behaviors. Results YA-ASD had high rates of PH and MH conditions. Describing and careseeking behavior was significantly higher for PH versus MH conditions (p Regression analysis showed similar predictors for describing and care-seeking behaviors regardless of condition type. Intellectual disability and ASD-symptom severity were strong predictors (p Conclusions Results reveal a need for interventions focusing on empowering YAASD to manage MH conditions.

Published
2021

14. Intellectual Functioning and Autism Spectrum Disorder: Can Profiles Inform Identification of Subpopulations?

Author

Robin P. Goin-Kochel, Sarah S. Mire, Samuel D. McQuillin, and Kerri P. Nowell

Subjects
Rehabilitation, genetic structures, Cognitive Neuroscience, medicine.medical_treatment, 05 social sciences, medicine.disease, behavioral disciplines and activities, Developmental psychology, 03 medical and health sciences, Behavioral Neuroscience, Psychiatry and Mental health, 0302 clinical medicine, Borderline intellectual functioning, Developmental Neuroscience, Autism spectrum disorder, Intervention (counseling), mental disorders, medicine, 0501 psychology and cognitive sciences, Identification (biology), Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology
Abstract

Profiles of scores on measures of intellectual functioning may aid in understanding etiology and developing targeted intervention in autism spectrum disorder (ASD) by providing details about specific phenotypes or subpopulations of ASD. Research investigating the relationship between ASD symptoms and intellectual functioning suggests that scores on the factors comprising global measures of intellectual functioning may be related to ASD symptoms (e.g., Joseph et al. J Child Psychol Psychiatry 43:807–821, 2002). Research has been limited by methodological problems, such as defining samples using unreliable subtypes of ASD and an overreliance on variable-centered methodological strategies. In the current paper, the authors provide a summary of existing research related to ASD symptoms and measures of intellectual functioning, review recent research identifying subpopulations in ASD, and provide goals for future areas of research in this area.

Published
2017

15. Role of the School-Based Professional in Linking Systems of Care

Author

Milena A. Keller-Margulis, Kerri P. Nowell, Sarah Ochs, and Sarah S. Mire

Subjects
Medical education, education, School based, Psychology, humanities
Abstract

School-based providers serve an important role in connecting the various systems of care with which children with chronic health conditions and their families interact. The systems include schools and medical care organizations. This chapter presents a theoretical framework and reviews models of system collaboration to guide the professional in this role. Additionally, it presents information to facilitate optimal collaboration with medical care providers, families, and schools through communication and management of information dissemination. Guidelines for sharing health-related information in schools are outlined. Finally, the chapter concludes with a review of the strengths and challenges of school-based integrated care clinics. Information in this chapter will allow the school-based professional to establish a system of collaboration with key stakeholders within and outside the school system to meet the needs of children with chronic health conditions in schools.

Published
2019

16. Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients

Author

Judith H, Miles, Nicole, Takahashi, Julie, Muckerman, Kerri P, Nowell, and Muaid, Ithman

Subjects
Trisomy 21, dextromethorphan/quinidine, mental disorders, Bush-Francis Catatonia Rating Scale, Case Series, benzodiazepines, lorazepam, electroconvulsive therapy
Abstract

Objective The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient’s treatment responses. Longitudinal assessment of each patient’s response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy. Study design Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients’ longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose. Results Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7–6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports. Conclusion Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.

Published
2019

18. Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study

Author

Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne M. Maillard, Aurélie Pain, Sonia Richetin, Aia E. Jønch, Abid Y. Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, Jacques S. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie-Claude Addor, Joris Andrieux, Benoît Arveiler, Geneviève Baujat, Frédérique Sloan-Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean-Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie-Pierre Cordier, Albert David, François-Guillaume Debray, Marie-Ange Delrue, Martine Doco-Fenzy, Ulrike Dunkhase-Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Genevieve, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, Marie-Pierre Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina Pilekær Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck-Thambo, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth-Bolard, Marianne Till, Mieke Van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey L. Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina Cerban, Yishin Chang, Maxwell Cheong, Vivian Chow, Zili Chu, Darina Chudnovskaya, Lauren Cornew, Corby Dale, John Dell, Allison G. Dempsey, Trent Deschamps, Rachel Earl, James Edgar, Jenna Elgin, Jennifer Endre Olson, Yolanda L. Evans, Anne Findlay, Gerald D. Fischbach, Charlie Fisk, Brieana Fregeau, Bill Gaetz, Leah Gaetz, Silvia Garza, Jennifer Gerdts, Orit Glenn, Sarah E. Gobuty, Rachel Golembski, Marion Greenup, Kory Heiken, Katherine Hines, Leighton Hinkley, Frank I. Jackson, Julian Jenkins, Rita J. Jeremy, Kelly Johnson, Stephen M. Kanne, Sudha Kessler, Sarah Y. Khan, Matthew Ku, Emily Kuschner, Anna L. Laakman, Peter Lam, Morgan W. Lasala, Hana Lee, Kevin LaGuerre, Susan Levy, Alyss Lian Cavanagh, Ashlie V. Llorens, Katherine Loftus Campe, Tracy L. Luks, Elysa J. Marco, Stephen Martin, Alastair J. Martin, Gabriela Marzano, Christina Masson, Kathleen E. McGovern, Rebecca McNally Keehn, David T. Miller, Fiona K. Miller, Timothy J. Moss, Rebecca Murray, Srikantan S. Nagarajan, Kerri P. Nowell, Julia Owen, Andrea M. Paal, Alan Packer, Patricia Z. Page, Brianna M. Paul, Alana Peters, Danica Peterson, Annapurna Poduri, Nicholas J. Pojman, Ken Porche, Monica B. Proud, Saba Qasmieh, Melissa B. Ramocki, Beau Reilly, Timothy P.L. Roberts, Dennis Shaw, Tuhin Sinha, Bethanny Smith-Packard, Anne Snow Gallagher, Vivek Swarnakar, Tony Thieu, Christina Triantafallou, Roger Vaughan, Mari Wakahiro, Arianne Wallace, Tracey Ward, Julia Wenegrat, Anne Wolken, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, CSIR-Institute of Microbial Technology [Chandigarh] (IMTech), Council of Scientific and Industrial Research [India] (CSIR), Service Hospitalier Frédéric Joliot (SHFJ), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Human Genetics, Gillberg Neuropsychiatry Centre [Göteborg, Sueden], Institute of Neuroscience and Physiology [Göteborg]-University of Gothenburg (GU), The Wellcome Trust Sanger Institute [Cambridge], Department of Psychiatry [Boston], Massachusetts General Hospital [Boston], Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Génétique Humaine, Développement et Cancer, Université Bordeaux Segalen - Bordeaux 2, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Guglielmo Marconi University [Roma], Laboratoire de biomécanique (LBM), Centre National de la Recherche Scientifique (CNRS)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13), Systèmes de Référence Temps Espace (SYRTE), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Medical Sciences, Università degli studi di Torino (UNITO), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Liège (CHU-Liège), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Department of Clinical Genetics, Vejle Hospital, Institute of Child Health, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne, CHU Bordeaux [Bordeaux], Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Department of Genomics of Common Disease, Imperial College London, Regional Hospital, Department of Psychiatry and Behavioral Sciences! (UW psychiatry), University of Washington [Seattle], University of California, San Francisco (UCSF), UCSF, Unité de Recherches Zootechniques (URZ), Institut National de la Recherche Agronomique (INRA), University of California [San Francisco] (UCSF), University of California, UCL Institute of Neurology, Biomagnetic Imaging Laboratory - University of California, SFARI219193, Simons Foundation, 31003A160203, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Roger De Spoelberch, Partridge Foundations, Jeanne et Jean Louis Levesque Foundation, 604102, Seventh Framework Programme, Canada Research Chairs, CRSII33-133044, SNSF Sinergia, 32003B_159780, SNSF National Centre of Competence in Research Synapsy, Foundation Parkinson Switzerland, Foundation Synapsis, Université de Lausanne = University of Lausanne (UNIL), CHU Sainte Justine [Montréal], Harvard University [Cambridge], Odense University Hospital (OUH), Department of radiology (Massachusetts General Hospital), Department of Psychiatry Massachusetts General Hospital (MGH), Columbia University [New York], Simons Foundation, University of California [San Francisco] (UC San Francisco), University of California (UC), University of Gothenburg (GU), Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Torino = University of Turin (UNITO), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vejle Hospital [Danemark], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Harvard University, Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), University of Lausanne (UNIL), Centre de recherche du CHU Sainte-Justine [Montreal], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human genetics, Institute of Microbial Technology (IMTECH), Intitute of Microbial Technology, Gillberg Neuropsychiatry Centre, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], PSL Research University (PSL)-PSL Research University (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique-Hôpital Chubert, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière [APHP], Centre de recherche Jean-Pierre Aubert-Neurosciences et Cancer, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., McNally Keehn, R., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., and Wolken, A.

Subjects
Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], Autism Spectrum Disorder/diagnostic imaging, Autism Spectrum Disorder/genetics, Brain/pathology, Child, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 16/genetics, Cognitive Dysfunction/diagnostic imaging, Cognitive Dysfunction/genetics, Female, Humans, Intellectual Disability/diagnostic imaging, Intellectual Disability/genetics, Language, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders/diagnostic imaging, Neurodevelopmental Disorders/genetics, Schizophrenia/diagnostic imaging, Schizophrenia/genetics, Young Adult, 16p11.2, Autism spectrum disorder, Copy number variant, Genetics, Imaging, Neurodevelopmental disorders, Biology, Biological Psychiatry, 03 medical and health sciences, 0302 clinical medicine, Transverse temporal gyrus, Neuroimaging, Intellectual Disability, medicine, Cognitive Dysfunction, Copy-number variation, ComputingMilieux_MISCELLANEOUS, Brain morphometry, Brain, medicine.disease, 16p112, 030104 developmental biology, Schizophrenia, Williams syndrome, Neuroscience, Insula, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
Abstract

BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure.METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV.RESULTS: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results.CONCLUSIONS: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.

Published
2018

19. Ensemble validation paradigm for intelligent data analysis in autism spectrum disorders

Author

Thy Nguyen, Tayo Obafemi-Ajayi, Kerri P. Nowell, and Kimberly E. Bodner

Subjects
Computer science, media_common.quotation_subject, Sample (statistics), 02 engineering and technology, Machine learning, computer.software_genre, Spectrum (topology), 03 medical and health sciences, 0302 clinical medicine, 0202 electrical engineering, electronic engineering, information engineering, medicine, Cluster analysis, media_common, Creative visualization, business.industry, medicine.disease, Behavioral analysis, Range (mathematics), ComputingMethodologies_PATTERNRECOGNITION, Autism spectrum disorder, Autism, 020201 artificial intelligence & image processing, Artificial intelligence, business, computer, 030217 neurology & neurosurgery
Abstract

Cluster analysis is an important exploratory tool for a broad range of applications including data analysis of biomedical datasets to uncover meaningful subgroups such as in autism spectrum disorder (ASD). For a given clustering algorithm, multiple results can be obtained on the same dataset by varying the algorithm parameters. In biomedical applications, discovering meaningful subgroups, not just the optimal number of clusters, is expedient. It is imperative to develop quality measures capable of identifying optimal partitions for a given dataset. In this paper, we apply varied clustering methods to subgroup an ASD simplex sample based on relevant phenotype features that may uncover meaningful subtypes. We present a detailed cluster validation analysis using an ensemble validation paradigm and visualization techniques. We present a rigorous clinical/behavioral analysis of the top highly ranked results. The evaluation demonstrated that both configurations yielded similar clinical significance results: 2-subgroups configuration with distinct clinical profile.

Published
2018

20. The Influence of Demographic Factors on the Identification of Autism Spectrum Disorder: A Review and Call for Research

Author

Elizabeth Allain, Kerri P. Nowell, Christie M. Brewton, and Sarah S. Mire

Subjects
Rehabilitation, Social work, Cognitive Neuroscience, medicine.medical_treatment, Ethnic group, medicine.disease, Developmental psychology, Behavioral Neuroscience, Psychiatry and Mental health, Race (biology), Developmental Neuroscience, Autism spectrum disorder, mental disorders, medicine, Identification (biology), Medical diagnosis, Psychology, Socioeconomic status, Clinical psychology
Abstract

Autism spectrum disorder (ASD) diagnoses are made based on a pattern of behavioral symptoms, yet a growing body of research indicates that when, and indeed whether, an individual receives a diagnosis of ASD is influenced by myriad demographic factors including race, ethnicity, socioeconomic status (SES), and parental education level. The current manuscript provides a focused review of a subset of existing literature chosen to demonstrate how demographic factors may be related to the identification of individuals with ASD within the United States. Several possible explanations for existing disparities are discussed, along with clinical implications for professionals working with children from diverse backgrounds who are suspected of having ASD. Additional research in this area is needed to facilitate development of effective means to eliminate the diagnostic disparities.

Published
2015

21. Cognitive Profiles in Youth with Autism Spectrum Disorder: An Investigation of Base Rate Discrepancies using the Differential Ability Scales—Second Edition

Author

Robin P. Goin-Kochel, G. Thomas Schanding, Stephen M. Kanne, and Kerri P. Nowell

Subjects
Intelligence Tests, Male, School age child, Adolescent, Autism Spectrum Disorder, Intelligence, Aptitude, Cognition, medicine.disease, Developmental psychology, Borderline intellectual functioning, Extant taxon, Autism spectrum disorder, Differential Ability Scales, Case-Control Studies, Child, Preschool, Developmental and Educational Psychology, medicine, Humans, Autism, Female, Psychology, Normative sample, Clinical psychology
Abstract

Extant data suggest that the cognitive profiles of individuals with ASD may be characterized by variability, particularly in terms of verbal intellectual functioning (VIQ) and non-verbal intellectual functioning (NVIQ) discrepancies. The Differential Ability Scales, Second Edition (DAS-II) has limited data available on its use with youth with ASD. The current study examined data from 2,110 youth with ASD in order to characterize performance on the DAS-II and to investigate potential discrepancies between VIQ and NVIQ. A larger proportion of individuals in the ASD sample had significant discrepancies between VIQ and NVIQ when compared to the normative sample [early years sample χ2 (2) = 38.36; p < .001; school age sample χ2 (2) = 13.48; p < .01]. Clinical and research implications are discussed.

Published
2015

22. A Multi-Rater Study on Being Teased Among Children/Adolescents With Autism Spectrum Disorder (ASD) and Their Typically Developing Siblings

Author

Kerri P. Nowell, Christie M. Brewton, and Robin P. Goin-Kochel

Subjects
Age differences, Intelligence quotient, Cognitive Neuroscience, medicine.disease, Special education, behavioral disciplines and activities, Developmental psychology, Psychiatry and Mental health, Typically developing, Neurology, Autism spectrum disorder, mental disorders, Pediatrics, Perinatology and Child Health, medicine, Autism, Early adolescents, Neurology (clinical), Psychology, Clinical psychology
Abstract

The study examined teasing experiences among 74 individuals with autism spectrum disorder (ASD; M age = 115.7 months [9.6 years]; 83.8% male). Experiences were examined from parent, teacher, and child’s own perspectives. Factors potentially associated with being teased were investigated. Comparison data were ascertained on typically developing siblings ( n = 68; M age = 116.5 months [9.7 years]; 52.9% male). Select items on the Child Behavior Checklist 6–18 and the Teacher Report Form 6–18 were utilized to calculate the prevalence of being teased; qualitative data from a subgroup of verbally fluent children with ASD ( n = 50) were analyzed to provide child self-report teasing data. Children with ASD were more likely to be teased than their typically developing siblings. Characteristics that were significantly associated with being teased included higher cognitive functioning, less severe ASD symptomatology, and more time spent in inclusive educational settings. Clinical implications are discussed.

Published
2014

23. Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related?

Author

Thomas Kubiszyn, Robin P. Goin-Kochel, Sarah S. Mire, and Kerri P. Nowell

Subjects
Male, medicine.medical_specialty, Adolescent, Logistic regression, Severity of Illness Index, Autism Diagnostic Observation Schedule, Age Distribution, Developmental and Educational Psychology, medicine, Humans, Attention deficit hyperactivity disorder, Cognitive skill, Child, Psychiatry, Psychiatric Status Rating Scales, Psychotropic Drugs, Incidence (epidemiology), Cognition, medicine.disease, Child Development Disorders, Pervasive, Autism spectrum disorder, Child, Preschool, Autism, Female, Psychology, Clinical psychology
Abstract

Psychotropic medication use and its relationship to autism spectrum core features were examined in a well-characterized but nonstratified North American sample ( N = 1605) of children/adolescents diagnosed with autism spectrum disorders utilizing the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview–Revised, from the multisite Simons Simplex Collection. Analyses included (a) prevalence of psychotropic use (overall, and by classes), (b) correlations between prevalence of use and autism spectrum core features, age, and cognitive functioning, and (c) logistic regression to identify whether these factors were predictive of psychotropic use. Results indicated 41.7% ever used one or more classes of psychotropic medications, with attention deficit hyperactivity disorder medications used most. Small but significant correlations between psychotropic medication use and (a) social impairment ( p < .001) and (b) repetitive behaviors ( p < .001) were found. Overall, however, autism spectrum disorder core features are weakly related to medication use. Older children used more psychotropics ( p < .001), and higher cognitive functioning was associated with less overall psychotropic use ( p < .001). Logistic regression indicated that use of psychotropics was predicted by repetitive behaviors (both clinician-observed and parent-reported), age, and cognitive ability level. Limitations inherent to the Simons Simplex Collection sample, methodology, and the correlational analyses are discussed. Directions for future research include investigation of factors more influential than core symptoms on psychotropic treatment (e.g. parent perceptions, comorbid symptoms).

Published
2013

24. Universal Screening for Emotional and Behavioral Problems: Fitting a Population-Based Model

Author

G. Thomas Schanding and Kerri P. Nowell

Subjects
education.field_of_study, Response to intervention, Service delivery framework, education, Population, Population based, Emotional functioning, Education, Psychiatry and Mental health, Goodness of fit, Intervention (counseling), Developmental and Educational Psychology, Psychology, Empirical evidence, Applied Psychology, Clinical psychology
Abstract

Schools have begun to adopt a population-based method to conceptualizing assessment and intervention of students; however, little empirical evidence has been gathered to support this shift in service delivery. The present study examined the fit of a population-based model in identifying students’ behavioral and emotional functioning using a district screening of first- through fifth-grade students (n = 2,706) in a diverse suburban school district. Teacher ratings of students’ emotional and behavior difficulties appeared to fit a population-based model well. Parent ratings of students’ difficulties (n = 1468) did not fit the model but indicated students having fewer difficulties. There was significant agreement between parent and teacher ratings for those students rated by both informants. These findings further support the use of population-based models in conceptualizing service delivery for students in schools. Limitations of the study, as well as implications for school screenings, are discussed.

Published
2013

25. Relationship between the social functioning of children with autism spectrum disorders and their siblings’ competencies/problem behaviors

Author

Christie M. Brewton, Morgan W. Lasala, Kerri P. Nowell, and Robin P. Goin-Kochel

Subjects
CBCL, medicine.disease, behavioral disciplines and activities, Social relation, Autism Diagnostic Observation Schedule, Developmental psychology, Psychiatry and Mental health, Clinical Psychology, Social skills, Autism spectrum disorder, mental disorders, Developmental and Educational Psychology, medicine, Autism, Sibling, Child Behavior Checklist, Psychology
Abstract

There is very little known about how sibling characteristics may influence the social functioning of a child with an autism spectrum disorder (ASD). The current study utilized data from the Simons Simplex Collection (SSC; n = 1355 children with ASD and 1351 siblings) to investigate this relationship. Phenotypic measures included (a) the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS), and the Vineland Adaptive Behavior Scales-II (VABS-II) for the probands with ASD and (b) the Social Communication Questionnaire (SCQ), the Social Responsiveness Scale (SRS), the Child Behavior Checklist (CBCL), and the VABS-II for siblings. Sibling data were first analyzed collectively, then analyzed by “older” and “younger” groups, relative to the age of the proband with ASD. Significant correlations were observed between probands’ and siblings’ VABS-II socialization domain scores; additional associations were noted between (a) probands’ VABS-II socialization domain scores and siblings’ CBCL internalizing subscale scores when only younger siblings were analyzed, and (b) probands’ ADOS Reciprocal Social Interaction (RSI) domain scores and the sibling SCQ scores when only older siblings were analyzed. These findings suggest that typically developing children may have a small yet meaningful influence on the prosocial development of their siblings with ASD. Limitations and future directions are discussed.

Published
2012

26. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Author

Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee, Simons VIP Consortium, 16p11.2 European Consortium, Addor, MC., Arveiler, B., Belfiore, M., Bena, F., Bernardini, L., Blanchet, P., Bonneau, D., Boute, O., Callier, P., Campion, D., Chiesa, J., Cordier, MP., Cuisset, JM., David, A., de Leeuw, N., de Vries, B., Didelot, G., Doco-Fenzy, M., Bedu, BD., Dubourg, C., Dupuis-Girod, S., Fagerberg, CR., Faivre, L., Fellmann, F., Fernandez, BA., Fisher, R., Flori, E., Goldenberg, A., Heron, D., Holder, M., Hoyer, J., Isidor, B., Jaillard, S., Jonveaux, P., Joriot, S., Journel, H., Kooy, F., le Caignec, C., Leheup, B., Lemaitre, MP., Lewis, S., Malan, V., Mathieu-Dramard, M., Metspalu, A., Morice-Picard, F., Mucciolo, M., Oiglane-Shlik, E., Ounap, K., Pasquier, L., Petit, F., Philippe, A., Plessis, G., Prieur, F., Puechberty, J., Rajcan-Separovic, E., Rauch, A., Renieri, A., Rieubland, C., Rooryck, C., Rötzer, KM., Ruiter, M., Sanlaville, D., Selmoni, S., Shen, Y., Siffredi, V., Thonney, J., Vallée, L., van Binsbergen, E., Van der Aa, N., van Haelst MM., Vigneron, J., Vincent-Delorme, C., Vittoria, D., Vulto-van Silfhout AT., Witwicki, RM., Zwolinski, SA., Bowe, A., Beaudet, AL., Brewton, CM., Chu, Z., Dempsey, AG., Evans, YL., Garza, S., Kanne, SM., Laakman, AL., Lasala, MW., Llorens, AV., Marzano, G., Moss, TJ., Nowell, KP., Proud, MB., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K., Kessler, S., Khan, SY., Qasmieh, S., Bibb, AL., Paal, AM., Page, PZ., Smith-Packard, B., Buckner, R., Burko, J., Cavanagh, AL., Cerban, B., Snow, AV., Snyder, LG., Keehn, RM., Miller, DT., Miller, FK., Olson, JE., Triantafallou, C., Visyak, N., Atwell, C., Benedetti, M., Fischbach, GD., Greenup, M., Packer, A., Bukshpun, P., Cheong, M., Dale, C., Gobuty, SE., Hinkley, L., Jeremy, RJ., Lee, H., Luks, TL., Marco, EJ., Martin, AJ., McGovern, KE., Nagarajan, SS., Owen, J., Paul, BM., Pojman, NJ., Sinha, T., Swarnakar, V., Wakahiro, M., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Elgin, J., Gerdts, J., Johnson, K., Reilly, B., Shaw, D., Stevens, A., Ward, T., Wenegrat, J., Other departments, Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), CHU Pontchaillou [Rennes], Department of Medical Genetics, Université de Lausanne (UNIL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Texas Children's Hospital [Houston, USA], Department of pediatrics, Primary palliative Care Research Group, Community Health Sciences, General Practice Section, University of Edinburgh, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Developmental Brain and Behaviour Unit, University of Southampton, Institute of Molecular and Cell Biology, University of Tartu, Department of Human Genetics, UCLA, University of California [Los Angeles] (UCLA), University of California-University of California-Semel Institute, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Lausanne = University of Lausanne (UNIL), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), University of California (UC)-University of California (UC)-Semel Institute, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], and Kooy, Frank

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Adolescent, [SDV]Life Sciences [q-bio], Developmental Disabilities, Biology, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Order, Genetics, medicine, Humans, Copy-number variation, Clinical genetics, Obesity, Young adult, Child, Genetics (clinical), 030304 developmental biology, Child Development Disorders, Pervasive/diagnosis, Child Development Disorders, Pervasive/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Intelligence Tests, Phenotype, Syndrome, 2. Zero hunger, Psychiatry, 0303 health sciences, Intelligence quotient, Neuropsychology, Complex traits, medicine.disease, Comorbidity, 3. Good health, Autism spectrum disorder, Child Development Disorders, Pervasive, Autism, Medical genetics, Human medicine, Copy-Number Variation, 030217 neurology & neurosurgery
Abstract

Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. Methods We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. Results When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations. Conclusions The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases.

Published
2012

27. Utility of the Social Communication Questionnaire-Current and Social Responsiveness Scale as Teacher-Report Screening Tools for Autism Spectrum Disorders

Author

G. Thomas Schanding, Robin P. Goin-Kochel, and Kerri P. Nowell

Subjects
Male, Adolescent, Psychometrics, education, MEDLINE, Sensitivity and Specificity, Developmental psychology, Social Responsiveness Scale, Interpersonal relationship, Surveys and Questionnaires, mental disorders, Developmental and Educational Psychology, medicine, Humans, Cutoff, Interpersonal Relations, Child, Social Behavior, Psychiatric Status Rating Scales, Social communication, Communication, Teacher report, medicine.disease, Faculty, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, Psychology, Clinical psychology
Abstract

Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.

Published
2011

28. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Author

Jill V. Hunter, Kirk Aleck, Robin P. Goin-Kochel, Marwan Shinawi, Ankita Patel, Christian P. Schaaf, Kerri P. Nowell, Carlos A. Bacino, and Sarah Cox

Subjects
Male, Adolescent, Microarray, Language delay, Developmental Disabilities, Biology, Bioinformatics, Article, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Language Development Disorders, Autistic Disorder, Child, Genetics (clinical), Chiari malformation, Pervasive developmental disorder not otherwise specified, Chromosome Aberrations, medicine.disease, Syringomyelia, Phenotype, Attention Deficit Disorder with Hyperactivity, Autism spectrum disorder, Autism, Chromosome Deletion, Chromosomes, Human, Pair 16
Abstract

16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.

Published
2010

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