Tatton-Brown-Rahman syndrome : cognitive and behavioural phenotypes

The aim of this case series was to assess and characterise cognitive abilities, autistic traits and adaptive behaviour in Tatton-Brown-Rahman syndrome. The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, seven females; mean age 17y 7mo, SD 9y 5mo, range 7y 2mo–33y 10mo). The British Ability Scales, Third Edition and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) were administered to all participants. The Social Responsiveness Scale, Second Edition and the Vineland Adaptive Behaviour Scales, Third Edition were completed by a parent/caregiver. The majority of participants (n=15) had intellectual disability and General Conceptual Ability scores ranged from 39 - 76 (mean 53.17, SD 12.13). Participants displayed a profile of better verbal ability compared with non-verbal reasoning ability and spatial ability. Autistic traits were prevalent and eight participants scored above the cut-off on the ADOS-2, though symptoms were less pronounced in older individuals. Adaptive functioning was impaired but commensurate with intellectual ability. Overall, TBRS is associated with an uneven cognitive profile and a high prevalence of autistic traits. This has implications for identifying appropriate services and support which may be beneficial for individuals with TBRS.