Prevalence and profile of anxiety symptomology in CdLS

Background: Behaviours indicative of anxiety are reported in individuals with Cornelia de Lange syndrome (CdLS) with social situations, high demand situations, and separation from caregivers reported to be triggering events. However, more recent studies suggest the profile of anxiety symptomology may be broader with some people showing behaviour consistent with Generalised Anxiety, Panic Disorder and Agoraphobia.

To date, no study has assessed the profile of anxiety symptomology against clinical criteria or examined whether other anxiety types such as autism specific anxiety (e.g. Intolerance to Uncertainty, Arousal Anxiety) may be prevalent in individuals with CdLS. In this study, subthreshold DSM-5 and autism specific anxiety were investigated in individuals with CdLS. Participant characteristics and their associations with anxiety symptomology, including cognitive functioning, severity of autism phenomenology and chronological age were also examined to assess their utility as risk markers to aid early diagnoses and intervention. 

Methods: Informant measures of subthreshold DSM-5 anxiety and autism specific anxiety were conducted with caregivers of individuals with CdLS (n=49). Associations with cognitive functioning, chronological age and autism phenomenology were examined.

Results: Subthreshold DSM-5 anxiety symptomology was present in 91.8% of individuals with CdLS with 81.6% showing comorbidity of anxiety types. The most common subtheshold anxiety types were Specific Phobias (75.5%), Social Anxiety (53.1%), Agoraphobia (51.0%), Generalised Anxiety (44.9%) and Separation Anxiety (35.4%). High rates of co-occurrence between specific profiles of subthreshold anxiety were identified suggesting that in CdLS, presence of symptomology for one anxiety type places individuals at increased risk of displaying additional types. Autism specific anxiety was also shown to be prevalent (43.8% above cut off), with specific difficulties for Intolerance for Uncertainty identified. No associations with chronological age were found however repetitive behaviour was shown to be associated with specific anxiety types in CdLS including Restricted Preferences (Agoraphobia, p<.05), Compulsive Behaviour (Separation Anxiety, p<.05) and Repetitive Language (Specific Phobias, p<.05). Finally, poorer cognitive functioning, specifically difficulties with Attention Shifting and Emotional Control, were associated with higher levels of subthreshold anxiety symptomology (p<.05).

Conclusions: In individuals with CdLS both subthreshold DSM-5 and autism specific anxiety types are prevalent and remain persistent across the lifespan. Repetitive behaviour and cognitive functioning were associated with anxiety symptomology which may inform early diagnoses of these in clinical practice. In addition, understanding the association between repetitive behaviour and cognitive functioning with anxiety symptomology may inform theories of the causal mechanisms through which anxiety emerges in CdLS. Understanding these mechanisms may help to identify opportunities to adapt or create novel interventions which are appropriate and accessible for individuals with CdLS.

No conflicts of interest to declare.

1 Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK
2 Institute of Cognitive Neuroscience, University College London, London, UK
3 Coventry University, Coventry, UK

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Presenting author:  Laura Groves;
Authors: Laura Groves 1, Jo Moss 1 2, Hayley Crawford 1 3, Chris Oliver 1

Page history
Last modified by Gerritjan Koekkoek on 2023/03/29 10:11
Created by Gerritjan Koekkoek on 2019/07/09 13:48



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