Profiling the behavioural phenotype of genetic syndromes

Background: Potocki-Lupski syndrome (PTLS) is caused by a duplication within 17p11.2. A deletion within this region is associated with Smith-Magenis syndrome (SMS). Autism spectrum disorder (ASD) is variably reported in the PTLS literature, and the extent to which these features of ASD are typical of those seen in idiopathic ASD is largely unknown. Method: An online survey of informant-based questionnaires measuring mood, challenging behaviour, repetitive behaviour, activity, social functioning, and a screening tool for ASD, was completed by caregivers of adults and children with PTLS (n = 38; M age = 10.20, SD = 7.48). This PTLS group was compared to an age and adaptive functioning matched SMS group and idiopathic ASD group. Results: Individuals with PTLS displayed less self-injury, less impulsivity, and more compulsive behaviours than the SMS group. However, attachment to particular people was high in both PTLS and SMS. On the ASD screening tool, the PTLS group showed relative strengths within the reciprocal social interaction domain and on non-verbal items, compared to individuals with idiopathic ASD. Discussion: Behavioural similarities and differences were found between individuals with PTLS and SMS. However, there is evidence to suggest features of ASD in PTLS are qualitatively different than in idiopathic ASD. Work from this thesis has been published as Bissell, S., Wilde, L., Richards, C. et al. The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. J Neurodevelop Disord 10, 2 (2018). https://doi.org/10.1186/s11689-017-9221-