An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes (original) (raw)
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Orphanet Journal of Rare Diseases
Background Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS, FXS and RTS was compared to that observed in typically developing (TD) and autistic (AUT) children. Methods Children with CdLS (N = 22), FXS (N = 19) and RTS (N = 18), completed the Early Social Cognition Scale (ESCogS). Extant data from AUT (N = 19) and TD (N = 86) children were used for comparison. Results Similar to AUT children, children with CdLS, FXS and RTS showed an overall delay in passing ESCogS tasks. Children with CdLS showed a similar degree of delay to AUT children and greater delay than children with FXS and RTS. The CdLS, FXS and RTS groups did not pass tasks in the same sequence observed in TD and AUT children. Children with CdLS (p = 0.04), FXS (p = 0.02) and RTS (p = 0.04) performed better on tasks requiring unde...
American Journal on Intellectual and Developmental Disabilities, 2013
We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n = 19; mean age = 10.35 years), Cornelia de Lange (CdLS; n = 15; mean age = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n = 19; mean age = 8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.
Social Approach and Autistic Behavior in Children with Fragile X Syndrome
Journal of Autism and Developmental Disorders, 2007
Social avoidance is a core phenotypic characteristic of fragile X syndrome (FXS) that has critical cognitive and social consequences. However, no study has examined modulation of multiple social avoidant behaviors in children with FXS. In the current study, we introduce the Social Approach Scale (SAS), an observation scale that includes physical movement, facial expression, and eye contact approach behaviors collected across multiple time points. Our findings suggested that social approach behaviors in children with FXS were affected by age, gender, setting, and time spent with an examiner. Selected social approach behaviors were related to autistic behavior. Increased eye contact over the course of a research assessment, in particular, was found to be a strong predictor of lower autistic behavior.
American journal of medical genetics. Part C, Seminars in medical genetics, 2015
Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS = 67, CdCS = 42, and FXS = 142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (≤ 15yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to becom...
American Journal of Medical Genetics, 2004
The present study extends our previous work on social behavior impairment in young males with fragile X syndrome (FraX). Specifically, we evaluated whether the autistic phenomenon in FraX is expressed as a range of behavioral impairments as in idiopathic autism (Aut). We also examined whether there are behaviors, identified as items of the Autism Diagnostic Interview-Revised (ADI-R), that in FraX predispose to or differentiate subjects with autism spectrum disorder (ASD) diagnosis. Finally, regression models were utilized to test the relative contribution of reduced communication and socialization skills to ADI-R scores and diagnoses. A cohort of 56 boys (3-8 years) with FraX was examined in terms of scores on measures of cognition (IQ was a co-variate in most analyses.), autistic behavior, problem/aberrant behavior, adaptive behavior, and language development. We found that, indeed, in terms of problem behavior and adaptive skills, there is a range of severity from FraX þ Aut to FraX þ PDD (Pervasive Developmental Disorder) to FraX þ none. ADI-R items representing ''Play'' types of interaction appear to be ''susceptibility'' factors since they were abnormal across the FraX cohort. Integrated regression models demonstrated that items reflecting complex social interaction differentiated the FraX þ ASD (Aut þ PDD) subgroup from the rest of the FraX cohort, while abnormalities in basic verbal and non-verbal communication distinguished the most severely affected boys with FraX þ Aut from the milder FraX þ PDD cohort. Models incorporating language, adaptive communication, and adaptive socialization skills revealed that socialization was not only the main influence on scores but also a predictor of ASD diagnosis. Altogether, our findings demonstrate that the diagnosis of ASD in FraX reflects, to a large extent, an impairment in social interaction that is expressed with variable severity in young males with FraX. ß 2004 Wiley-Liss, Inc.
Autism traits in children and adolescents with Cornelia de Lange syndrome
American Journal of Medical Genetics Part A, 2014
Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n ¼ 7; 17.1%), "mild autism" (n ¼ 17; 41.4%), and "severe autism" (n ¼ 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P ¼ 0.003), hyperactivity (P ¼ 0.01), and lethargy (P ¼ 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P ¼ 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers.
Mood and sociability in Cornelia de Lange syndrome
2010
Background: Recent literature on the behavioural phenotype of Cornelia de Lange syndrome suggests that the trajectory of a number of behaviours may be atypical in the syndrome, including mood and sociability however there is a lack of quantitative research to support these findings. Methods: Three empirical studies were conducted. The first study employed a questionnaire design to follow up mood, interest and pleasure over a two-year period in individuals with Cornelia de Lange syndrome. The second study involved the development of an informant-based questionnaire to examine the age-related pattern of sociability in Cornelia de Lange syndrome. The third study employed an experimental design to examine indicators of social anxiety in adolescents and adults with Cornelia de Lange syndrome. Results: Low mood and reduced initiation of social interactions with unfamiliar people is characteristic of older adolescents and adults with Cornelia de Lange syndrome. Reduced verbalisation is also evident in this group when demands involving the initiation of speech are placed upon these individuals and this is related to impairments in both planning and working memory. A high rate of selective mutism is also characteristic of Cornelia de Lange syndrome. Conclusion: The age-related pattern of both mood and sociability appears atypical in Cornelia de Lange syndrome. Cognitive impairments may underpin these behavioural differences in adolescents and adults with the syndrome. A hypothetical model of the pathway from genes to behaviour via cognition is proposed for older adolescents and adults with the syndrome. ACKNOWLEDGMENTS Firstly, I would like to thank all the participants and families who took part in this research. Without their participation this research would just not have been possible. I would also like to say a special thank you to the Cornelia de Lange syndrome Foundation, particularly Alan Peaford and Jacquie Griffin who were so helpful in the recruitment of participants for this research. I feel so privileged to have had the opportunity to work with such a truly inspiring charitable organisation. Secondly, I would like to thank my supervisor Chris Oliver whose commitment to this research is a true inspiration for anyone working in this area. Chris' knowledge and expertise has been incredibly helpful during my PhD. I would also like to thank the people involved in my research. I would like to thank Sarah Gorniak who helped arrange research visits during my final project and came on some marathon visits with me! I would like to thank Leah Bull who spent many hours coding during my final project and I would also like to thank Jo Moss for her involvement in this research. I would like to say a special thank you to Donna Reid who as well as working together, has been an incredible friend to me during this time. I would like to thank my friends in the office, in particular Kate, Penny and Louise who I have laughed and cried with throughout my PhD. I would also like to say a special thank you to my amazing friend Emma Perry whose friendship has meant so much to me during my PhD. I couldn't imagine what I would have done without Emma's support. Finally, I would like to say an extra special thank you to my husband, Kevin Nelson. Kevin's love and support has meant everything to me during my PhD. Kevin has always picked me up when I have lost confidence in myself and has helped me to keep going on this journey. Kevin has always known how to support me in the best possible way and his faith in me has meant so much. Kevin has made a lot of sacrifices along the way and for that I am truly grateful. Contribution to the Thesis CONTRIBUTION TO THE THESIS Each person that contributed to the studies in this thesis has worked for what is now the Cerebra Centre for Neurodevelopmental Disorders as Phd students, trainee clinical psychologists or research associates. The first stage of the MIPQ follow-up study was conducted by my supervisor, Chris Oliver. Chris undertook this study with Jo Moss, Kate Arron, Cheryl Burbidge and Katy Berg. I then took the lead on conducting the follow-up study and obtained ethics for this study with help from my supervisor (Chris Oliver) and Jo Moss. Caroline Richards, Laura O'Farrell and Kate Woodcock helped to input the data for the follow-up study. The SQID data was also collected during the follow-up study. I developed the SQID with help from my supervisor (Chris Oliver) and Jo Moss. I set up the final experimental study on sociability, developed the social tasks for the study and obtained ethics for this study with help from my supervisor (Chris Oliver) and Jo Moss. Sarah Gorniak arranged the research visits for the CdLS participants during this project. Sarah also came on research visits with me to administer the unfamiliar conditions of the social tasks and the VABS. Kristina Stockdale, Laurie Powis and Jane Appleby came on several research visits for the CdLS participants to administer the unfamiliar conditions of the social tasks and the VABS. Donna Reid conducted all the research visits for the Down syndrome participants and helped me to input the data into SPSS. Leah Bull and I conducted the inter-rater reliability for the social tasks. Leah then coded the rest of the social tasks during this project and inputted this data into SPSS.
Journal of Autism and Developmental Disorders, 1979
The prevalence, in children aged under 15, of severe impairments of social interaction, language abnormalities, and repetitive stereotyped behaviors was investigated in an area of London. A “socially impaired” group (more than half of whom were severely retarded) and a comparison group of “sociable severely mentally retarded” children were identified. Mutism or echolalia, and repetitive stereotyped behaviors were found in almost all the socially impaired children, but to a less marked extent in a minority of the sociable severely retarded. Certain organic conditions were found more often in the socially impaired group. A subgroup with a history of Kanner's early childhood autism could be identified reliably but shared many abnormalities with other socially impaired children. The relationships between mental retardation, typical autism, and other conditions involving social impairment were discussed, and a system of classification based on quality of social interaction was considered.
Social Approach and Emotion Recognition in Fragile X Syndrome
American journal on intellectual and developmental disabilities, 2014
Evidence is emerging that individuals with Fragile X syndrome (FXS) display emotion recognition deficits, which may contribute to their significant social difficulties. The current study investigated the emotion recognition abilities, and social approachability judgments, of FXS individuals when processing emotional stimuli. Relative to chronological age-(CA-) and mental age-(MA-) matched controls, the FXS group performed significantly more poorly on the emotion recognition tasks, and displayed a bias towards detecting negative emotions. Moreover, after controlling for emotion recognition deficits, the FXS group displayed significantly reduced ratings of social approachability. These findings suggest that a social anxiety pattern, rather than poor socioemotional processing, may best explain the social avoidance observed in FXS.