Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes

Area of Science:

• Neurodevelopmental disorders
• Genetics and rare diseases
• Cognitive psychology

Background:

• Tatton-Brown-Rahman syndrome (TBRS) is a rare genetic disorder.
• Limited research exists on the cognitive and behavioral characteristics of individuals with TBRS.
• Understanding these characteristics is crucial for targeted support and interventions.

Observation:

• A case series of 18 individuals diagnosed with TBRS was evaluated.
• Participants underwent assessments for cognitive abilities, autistic traits, and adaptive behavior.
• Standardized tools included the British Ability Scales, ADOS-2, SRS-2, and Vineland Adaptive Behaviour Scales.

Findings:

• The majority of participants (15/18) exhibited intellectual disability, with General Conceptual Ability scores ranging from 39 to 76.
• A cognitive profile emerged with stronger verbal abilities compared to non-verbal reasoning and spatial skills.
• Autistic traits were prevalent, with 8 participants exceeding the ADOS-2 cutoff, though less pronounced in older individuals. Impaired adaptive functioning was observed, correlating with intellectual ability.

Implications:

• TBRS is characterized by an uneven cognitive profile and a high prevalence of autistic traits.
• Findings highlight the need for tailored educational and therapeutic services for individuals with TBRS.
• Lower intellectual ability and adaptive functioning are associated with increased severity of autistic traits in TBRS.