Literature DB >> 18564888

Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes.

Joanna F Moss1, Chris Oliver, Katy Berg, Gurmeash Kaur, Lesley Jephcott, Kim Cornish.   

Abstract

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation Schedule compared to 9 with Cri du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.

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Year:  2008        PMID: 18564888     DOI: 10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2

Source DB:  PubMed          Journal:  Am J Ment Retard        ISSN: 0895-8017


  24 in total

1.  Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology.

Authors:  Jane Waite; Joanna Moss; Sarah R Beck; Caroline Richards; Lisa Nelson; Kate Arron; Cheryl Burbidge; Katy Berg; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2015-05

2.  Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.

Authors:  Donna Reid; Jo Moss; Lisa Nelson; Laura Groves; Chris Oliver
Journal:  J Neurodev Disord       Date:  2017-08-15       Impact factor: 4.025

3.  Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

Authors:  Mariko Nakanishi; Matthew A Deardorff; Dinah Clark; Susan E Levy; Ian Krantz; Mary Pipan
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

Review 4.  Epilepsy and Autism.

Authors:  Ashura W Buckley; Gregory L Holmes
Journal:  Cold Spring Harb Perspect Med       Date:  2016-04-01       Impact factor: 6.915

Review 5.  The genome in three dimensions: a new frontier in human brain research.

Authors:  Amanda C Mitchell; Rahul Bharadwaj; Catheryne Whittle; Winfried Krueger; Karoly Mirnics; Yasmin Hurd; Theodore Rasmussen; Schahram Akbarian
Journal:  Biol Psychiatry       Date:  2013-08-16       Impact factor: 13.382

6.  Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

Authors:  Chris Oliver; Katy Berg; Jo Moss; Kate Arron; Cheryl Burbidge
Journal:  J Autism Dev Disord       Date:  2011-08

7.  A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Authors:  Hayley Crawford; Joanna Moss; Laura Groves; Robyn Dowlen; Lisa Nelson; Donna Reid; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2020-01

8.  Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.

Authors:  Siddharth Srivastava; Bennett Clark; Colleen Landy-Schmitt; Elizabeth A Offermann; Antonie D Kline; Samuel T Wilkinson; Marco A Grados
Journal:  J Autism Dev Disord       Date:  2021-05

9.  An experimental study of executive function and social impairment in Cornelia de Lange syndrome.

Authors:  Lisa Nelson; Hayley Crawford; Donna Reid; Joanna Moss; Chris Oliver
Journal:  J Neurodev Disord       Date:  2017-09-11       Impact factor: 4.025

10.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

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