Research Topics
Genomes and Genes | Lonnie ZwaigenbaumSummaryAffiliation: McMaster University Country: Canada Publications
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Publications
Pregnancy and birth complications in autism and liability to the broader autism phenotypeLonnie Zwaigenbaum
Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada
J Am Acad Child Adolesc Psychiatry 41:572-9. 2002..To understand better the relationship between pregnancy and birth complications and genetic factors in autism...
Behavioral manifestations of autism in the first year of lifeLonnie Zwaigenbaum
Department of Paediatrics, McMaster Children s Hospital, McMaster University, PO Box 2000, Hamilton, Ont, Canada L8N 3Z5
Int J Dev Neurosci 23:143-52. 2005....
Studying the emergence of autism spectrum disorders in high-risk infants: methodological and practical issuesLonnie Zwaigenbaum
Department of Paediatrics, McMaster Children s Hospital at McMaster University, Hamilton, Ontario, Canada
J Autism Dev Disord 37:466-80. 2007..We suggest possible design and implementation strategies to address these various challenges, based on current research efforts in the field and previous studies involving high-risk populations...
Two children with muscular dystrophies ascertained due to referral for diagnosis of autismLonnie Zwaigenbaum
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
J Autism Dev Disord 33:193-9. 2003..These cases highlight the importance of a thorough neuromotor examination for all children with suspected autism spectrum disorders...
Decomposing the autism phenotype into familial dimensionsPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 147:3-9. 2008..These findings suggest that non-verbal IQ and language in PDD may arise from independent genetic mechanisms. The implications of this finding for linkage analysis and for identifying genetically informative phenotypes are discussed...
Structure of the autism symptom phenotype: A proposed multidimensional modelStelios Georgiades
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
J Am Acad Child Adolesc Psychiatry 46:188-96. 2007....
Differentiating autism and Asperger syndrome on the basis of language delay or impairmentTerry Bennett
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
J Autism Dev Disord 38:616-25. 2008..Diagnostic implications are discussed...
Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescencePeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Canada
J Child Psychol Psychiatry 50:1459-67. 2009....
Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liabilityPeter Szatmari
Offord Centre for Child Studies, Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 159:5-12. 2012..These data also support the dissociation of the different phenotypic dimensions of ASD in terms of its genetic architecture. The implications of these results for linkage and association studies are discussed...
Brief Report: Relationship between non-verbal IQ and gender in autismRyan Banach
Department of Family Medicine, McMaster University, Hamilton, ON, Canada
J Autism Dev Disord 39:188-93. 2009..Similarly, the affected brothers of girls with autism were no different from affected brothers of male probands. These data suggest that MPX and SPX families differ with respect to the relationship between gender and IQ...
Alexithymia in parents of children with autism spectrum disorderPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada
J Autism Dev Disord 38:1859-65. 2008..The alexithymia trait appears to be one of the many building blocks that make up the BAP...
A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorderStelios Georgiades
Offord Centre for Child Studies and McMaster Children s Hospital, McMaster University, Ontario, Canada
JAMA Psychiatry 70:42-8. 2013..The presence of autistic-like traits in relatives of individuals with autism spectrum disorder (ASD) is well recognized, but, to our knowledge, the emergence of these traits early in development has not been studied...
Influence of reporting effects on the association between maternal depression and child autism spectrum disorder behaviorsTeresa Bennett
Offord Center for Child Studies, Mc Master University, Hamilton, ON, Canada
J Child Psychol Psychiatry 53:89-96. 2012..Using structural equation modeling, we disaggregated shared from unique variation in the association between latent variable measures of maternal depression and ASD behaviors...
Phenotypic overlap between core diagnostic features and emotional/behavioral problems in preschool children with autism spectrum disorderStelios Georgiades
Offord Centre for Child Studies, McMaster University, 1200 Main St W, Hamilton, Ontario, Canada
J Autism Dev Disord 41:1321-9. 2011..This exploratory study contributes to our understanding of the ASD phenotype and provides further support for including emotional/behavioral problems as part of the clinical characterization of children with ASD...
Early language and communication development of infants later diagnosed with autism spectrum disorderShelley Mitchell
Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada
J Dev Behav Pediatr 27:S69-78. 2006....
Investigating the structure of the restricted, repetitive behaviours and interests domain of autismPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Canada
J Child Psychol Psychiatry 47:582-90. 2006..Although this conceptualisation is well accepted in the field, the grouping of symptoms is based primarily on clinical judgment rather than on empirical evidence...
Cortical serotonin type-2 receptor density in parents of children with autism spectrum disordersJeremy Goldberg
Department of Psychiatry and Behavioral Neurosciences, McMaster University, Hamilton, ON, Canada
J Autism Dev Disord 39:97-104. 2009..Further research should examine the relationship of reduced 5-HT2 receptor expression to underlying causation and to clinical and neurochemical correlates of autistic behavior...
Sex differences in children with autism spectrum disorder identified within a high-risk infant cohortLonnie Zwaigenbaum
Department of Pediatrics, University of Alberta, Edmonton, AB, Canada
J Autism Dev Disord 42:2585-96. 2012..The lower than expected male-to-female ratio, and the relatively high cognitive level among diagnosed children, suggest that we have identified an unanticipated number of higher-functioning girls with ASD...
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:879-87. 2012..The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1...
Genome-wide linkage analyses of quantitative and categorical autism subphenotypesXiao Qing Liu
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Biol Psychiatry 64:561-70. 2008..Another strategy is to analyze subsets of families that meet certain clinical criteria to reduce genetic heterogeneity...
Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infantsLonnie Zwaigenbaum
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
Pediatrics 123:1383-91. 2009..It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group...
Mapping autism risk loci using genetic linkage and chromosomal rearrangementsPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
Nat Genet 39:319-28. 2007..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
Advances in the early detection of autismLonnie Zwaigenbaum
Department of Pediatrics, University of Alberta, Glenrose Rehabilitation Hospital, Edmonton, Alberta, Canada
Curr Opin Neurol 23:97-102. 2010..Early detection and diagnosis of autism spectrum disorders (ASDs) allows opportunities for children and their families to benefit more fully from early supports and interventions...
Contribution of SHANK3 mutations to autism spectrum disorderRainald Moessner
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
Am J Hum Genet 81:1289-97. 2007..The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing...
Conducting genetic epidemiology studies of autism spectrum disorders: issues in matchingPeter Szatmari
Department of Psychiatry and Behavioral Neurosciences, McMaster University, Hamilton, Ontario, Canada
J Autism Dev Disord 34:49-57. 2004..Matching continues to be an important issue in the planning and conduct of family-genetic studies of the autism spectrum disorders, particularly as the search for autism susceptibility genes enters the next generation of studies...
Specifying PDD-NOS: a comparison of PDD-NOS, Asperger syndrome, and autismDarlene R Walker
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
J Am Acad Child Adolesc Psychiatry 43:172-80. 2004..This differentiation may lead to better reliability in diagnosis and to further progress in studies of etiology...
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Sci Transl Med 2:49ra68. 2010..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability...
Rare deletions at the neurexin 3 locus in autism spectrum disorderAndrea K Vaags
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:133-41. 2012..Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses...
The NeuroDevNet Autism Spectrum Disorders Demonstration ProjectLonnie Zwaigenbaum
Department of Pediatrics, University of Alberta, Alberta, Canada
Semin Pediatr Neurol 18:40-8. 2011..We believe that this research has the potential to transform assessment and care for individuals with ASD...
Informative phenotypes for genetic studies of psychiatric disordersPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 144:581-8. 2007..This is a conceptual review with a focus on methodological issues that may arise in psychiatric genetics and examples are taken from the literature on autism, schizophrenia, bipolar disorder, and alcoholism...
Differentiating autism spectrum disorder from other developmental delays in the first two years of lifeShelley Mitchell
Department of Speech Language Pathology, University of Toronto, Ontario, Canada
Dev Disabil Res Rev 17:130-40. 2011..This constellation of features coupled with a flat or declining trajectory in specific aspects of social and communication development, may assist clinicians in targeting early interventions to at-risk infants...
Five-year neurocognitive and health outcomes after the neonatal arterial switch operationRuth E Neufeld
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
J Thorac Cardiovasc Surg 136:1413-21, 1421.e1-1421.e2. 2008..We sought to assess the 5-year neurocognition and health of an interprovincial inception cohort undergoing the arterial switch operation for transposition of the great arteries...
Stability and change among high-functioning children with pervasive developmental disorders: a 2-year outcome studyElizabeth Starr
Faculty of Education, University of Windsor, Windsor, Canada
J Autism Dev Disord 33:15-22. 2003..Results suggest that the two PDD subtypes represent similar developmental trajectories, although the Asperger syndrome group maintains its advantage. Educational and clinical implications of the results are discussed...
Modifier effects in autism at the MAO-A and DBH lociMarshall B Jones
Department of Behavioral Science, The Pennsylvania State University College of Medicine, Hershey, PA, USA
Am J Med Genet B Neuropsychiatr Genet 126:58-65. 2004..Susceptibility effects were also found but not without qualification. We conclude that maternal genotypes at the MAO-A locus, and possibly at the DBH one, may modify IQ in children with autism through the intrauterine environment...
A prospective case series of high-risk infants who developed autismSusan E Bryson
Autism Research Centre, IWK Health Centre, Dalhousie University, 5850 University Avenue, Halifax, NS, Canada, B3K 6R8
J Autism Dev Disord 37:12-24. 2007..Discussion focuses on issues raised by the pattern of findings...
Stereotyped motor behaviors associated with autism in high-risk infants: a pilot videotape analysis of a sibling sampleAlvin Loh
The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
J Autism Dev Disord 37:25-36. 2007..Overall, the siblings subsequently diagnosed with ASD and the comparison groups had considerable overlap in their repertoires of stereotyped behaviors...
Brief report: data on the Stanford-Binet Intelligence Scales (5th ed.) in children with autism spectrum disorderJamesie Coolican
Department of Psychology, Dalhousie University, Halifax, NS, Canada
J Autism Dev Disord 38:190-7. 2008..However, caution is warranted when using the abbreviated battery, as it misrepresents actual ability in a small percentage of cases...
The Autism Observation Scale for Infants: scale development and reliability dataSusan E Bryson
Departments of Pediatrics and Psychology, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada
J Autism Dev Disord 38:731-8. 2008..Evidence that the AOSI provides reliable data is the first critical step towards evaluating its efficacy in distinguishing high-risk infants who develop ASD...
The developmental neurobiology of autism spectrum disorderEmanuel DiCicco-Bloom
Department of Neuroscience, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey 08854, USA
J Neurosci 26:6897-906. 2006
Immunization uptake in siblings of children with autismGhassan Kuwaik
Pediatrics 122:684-5; author reply 685-6. 2008
Structural variation of chromosomes in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
Am J Hum Genet 82:477-88. 2008..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
