Literature DB >> 19350377

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

Cédric Galéra1, Emmanuelle Taupiac, Sonia Fraisse, Sophie Naudion, Eva Toussaint, Caroline Rooryck-Thambo, Marie-Ange Delrue, Benoit Arveiler, Didier Lacombe, Manuel-Pierre Bouvard.   

Abstract

Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in CREBBP gene) and 39 children (mean age = 8.6 years) matched on developmental level, age and gender were administered the Child Behavior Checklist and the Children's Social Behavior Questionnaire. Children with RTS did not exhibit higher internalizing (affective and anxiety symptoms) or externalizing (disruptive symptoms) behavioral problems than expected for their age/developmental range. However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning.

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Year:  2009        PMID: 19350377     DOI: 10.1007/s10803-009-0733-4

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  22 in total

1.  Psychological and speech studies in Rubinstein-Taybi syndrome.

Authors:  R C Hennekam; A C Baselier; E Beyaert; A Bos; J B Blok; H B Jansma; V V Thorbecke-Nilsen; H Veerman
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2.  Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Authors:  D Lacombe; R Saura; L Taine; J Battin
Journal:  Am J Med Genet       Date:  1992-09-01

3.  Rubinstein-Taybi syndrome in The Netherlands.

Authors:  R C Hennekam; M J Van Den Boogaard; B J Sibbles; H G Van Spijker
Journal:  Am J Med Genet Suppl       Date:  1990

4.  Measuring problem behaviors in children with mental retardation: dimensions and predictors.

Authors:  S A Borthwick-Duffy; K L Lane; K F Widaman
Journal:  Res Dev Disabil       Date:  1997 Nov-Dec

5.  Emotional and behavioral problems in children and adolescents with and without intellectual disability.

Authors:  Marielle C Dekker; Hans M Koot; Jan van der Ende; Frank C Verhulst
Journal:  J Child Psychol Psychiatry       Date:  2002-11       Impact factor: 8.982

Review 6.  Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study.

Authors:  Jessica A Hellings; Shaheena Hossain; Judy K Martin; Ramil R Baratang
Journal:  Am J Med Genet       Date:  2002-03-08

7.  Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Authors:  Jeroen H Roelfsema; Stefan J White; Yavuz Ariyürek; Deborah Bartholdi; Dunja Niedrist; Francesco Papadia; Carlos A Bacino; Johan T den Dunnen; Gert-Jan B van Ommen; Martijn H Breuning; Raoul C Hennekam; Dorien J M Peters
Journal:  Am J Hum Genet       Date:  2005-02-10       Impact factor: 11.025

8.  The children's Social Behavior Questionnaire for milder variants of PDD problems: evaluation of the psychometric characteristics.

Authors:  E Luteijn; F Luteijn; S Jackson; F Volkmar; R Minderaa
Journal:  J Autism Dev Disord       Date:  2000-08

9.  Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

Authors:  Juan M Alarcón; Gaël Malleret; Khalid Touzani; Svetlana Vronskaya; Shunsuke Ishii; Eric R Kandel; Angel Barco
Journal:  Neuron       Date:  2004-06-24       Impact factor: 17.173

10.  [Dimensional approach of social behaviour deficits in children. Preliminary validation study of the French version of the Children's Social Behaviour Questionnaire (CSBQ)].

Authors:  E Excoffier; G Vila; E Taupiac; M-C Mouren-Simeoni; M-P Bouvard
Journal:  Encephale       Date:  2007-09       Impact factor: 1.291

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  17 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.  Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome.

Authors:  Jean René Cazalets; Emma Bestaven; Emilie Doat; Marie Pierre Baudier; Cécile Gallot; Anouck Amestoy; Manuel Bouvard; Etienne Guillaud; Isabelle Guillain; Emelyne Grech; Julien Van-Gils; Patricia Fergelot; Sonia Fraisse; Emmanuelle Taupiac; Benoit Arveiler; Didier Lacombe
Journal:  J Autism Dev Disord       Date:  2017-11

3.  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

4.  Rubinstein-taybi syndrome with psychosis.

Authors:  Raghavendra B Nayak; Ambika Lakshmappa; Nanasaheb M Patil; Sameeran S Chate; Lohit Somashekar
Journal:  Indian J Psychol Med       Date:  2012-04

Review 5.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638

6.  Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study.

Authors:  Hayley Crawford; Joanna Moss; Chris Oliver; Natasha Elliott; Giles M Anderson; Joseph P McCleery
Journal:  Mol Autism       Date:  2016-04-05       Impact factor: 7.509

7.  Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome.

Authors:  Jane Waite; Sarah R Beck; Mary Heald; Laurie Powis; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2016-06

8.  Autworks: a cross-disease network biology application for Autism and related disorders.

Authors:  Tristan H Nelson; Jae-Yoon Jung; Todd F Deluca; Byron K Hinebaugh; Kristian Che St Gabriel; Dennis P Wall
Journal:  BMC Med Genomics       Date:  2012-11-28       Impact factor: 3.063

9.  Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome.

Authors:  Hayley Crawford; Joanna Moss; Joseph P McCleery; Giles M Anderson; Chris Oliver
Journal:  J Neurodev Disord       Date:  2015-07-30       Impact factor: 4.025

10.  Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Authors:  Hee Jeong Yoo; Kyung Kim; In Hyang Kim; Seong-Hwan Rho; Jong-Eun Park; Ki Young Lee; Soon Ae Kim; Byung Yoon Choi; Namshin Kim
Journal:  Int J Mol Sci       Date:  2015-03-11       Impact factor: 5.923

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