Cognition and Behaviour in Weaver and Tatton-Brown Rahman Syndromes
Research type
Research Study
Full title
Cognition and Behaviour in Weaver Syndrome and Tatton-Brown Rahman Syndrome
IRAS ID
234768
Contact name
Megan Freeth
Contact email
Sponsor organisation
University of Sheffield
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Research summary
Weaver syndrome and Tatton-Brown Rahman syndrome are rare genetic overgrowth conditions associated with intellectual disability. Recent evidence suggests increased prevalence of Autism Spectrum Disorder in these conditions, though current understanding of cognition and behaviour is poor. This research will provide a comprehensive overview of the cognitive strengths and difficulties, and behavioural profile of these conditions. This will be established via cognitive and behavioural assessments with children and adults with both Weaver syndrome and Tatton-Brown Rahman syndrome, and will be supplemented with questionnaires completed by parents/caregivers. A matched control group of individuals with non-syndromic Autism Spectrum Disorder will also participate in this research. Results will be made available to clinical geneticists, families and educators so that they know what outcomes to expect and can ensure that appropriate educational strategies are adopted.
Summary Results
The primary objective of this research was to investigate the cognitive and behavioural profiles associated with two rare overgrowth syndromes: Tatton-Brown Rahman syndrome (TBRS) and Weaver syndrome. In total, 18 participants with TBRS and 8 participants with Weaver syndrome completed the study. In relation to TBRS, the findings from this study identified that the majority of individuals with TBRS have moderate intellectual disability and impaired adaptive functioning. In addition, the syndrome is associated with an uneven cognitive profile, indicating that individuals with TBRS have specific cognitive strengths and weaknesses. Specifically, the cognitive profile was characterised by better verbal ability compared to non-verbal reasoning and spatial abilities. In terms of behaviour, 44% of our sample displayed clinically significant autistic traits and greater severity of these traits was associated with lower intellectual ability. Furthermore, there was a strong negative correlation between age and severity of autistic traits, indicating that these traits may be less pronounced in older individuals with TBRS. Of note, none of the adults in our sample scored above clinical cut-off on the autism spectrum disorder (ASD) measure. Overall, the findings have important implications for the management of TBRS and for identifying appropriate services and support which may be beneficial for this population. This study provides the first in-depth characterisation of the cognitive and behavioural characteristics associated with TBRS. In relation to Weaver syndrome, the findings from this study identified that the syndrome is associated with variable intellectual functioning. In our sample, intellectual ability ranged from average intellectual ability to moderate intellectual disability. Clinically significant autistic traits were observed in two participants but were not displayed by the remaining participants, indicating that Weaver syndrome is not associated with a high prevalence of autistic traits, instead this population is heterogeneous in this regard. It is important to note that the majority of the sample were reported as having emotional and behavioural difficulties but it was not possible to fully characterise these in the present study due to the limited sample size.
REC name
Wales REC 5
REC reference
17/WA/0426
Date of REC Opinion
29 Jan 2018
REC opinion
Further Information Favourable Opinion